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  • Question 1 - Samantha is a 6-year-old girl who has been brought to your clinic by...

    Correct

    • Samantha is a 6-year-old girl who has been brought to your clinic by her father. He reports that Samantha has had a fever for 3 days and yesterday developed some mouth ulcers. Today, he noticed red spots on Samantha's hands and feet which are now worrying him.

      Which virus is most likely responsible for Samantha's symptoms?

      Your Answer: Coxsackievirus

      Explanation:

      Hand, foot, and mouth disease is a viral illness that causes mild systemic upset and oral ulcers, followed by vesicles on the palms and soles. It is typically caused by Coxsackie A16 virus, but other Coxsackie viruses and enterovirus 71 can also be responsible. Roseola, another viral infection, is caused by human herpesvirus 6 and is characterized by high fever followed by a distinctive rash. Croup, or laryngotracheobronchitis, is commonly caused by parainfluenza virus and produces a distinctive barking cough. Chickenpox, caused by varicella-zoster virus, is highly contagious and results in an itchy rash with small, fluid-filled blisters.

      Hand, Foot and Mouth Disease: A Contagious Condition in Children

      Hand, foot and mouth disease is a viral infection that commonly affects children. It is caused by intestinal viruses from the Picornaviridae family, particularly coxsackie A16 and enterovirus 71. This condition is highly contagious and often occurs in outbreaks in nurseries.

      The clinical features of hand, foot and mouth disease include mild systemic upset such as sore throat and fever, followed by the appearance of oral ulcers and vesicles on the palms and soles of the feet.

      Symptomatic treatment is the only management option available, which includes general advice on hydration and analgesia. It is important to note that there is no link between this disease and cattle, and children do not need to be excluded from school. However, the Health Protection Agency recommends that children who are unwell should stay home until they feel better. If there is a large outbreak, it is advisable to contact the agency for assistance.

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  • Question 2 - Samantha is a five-year-old caucasian girl who visits her GP due to her...

    Correct

    • Samantha is a five-year-old caucasian girl who visits her GP due to her mother's concern about her swollen tummy. She has no previous medical history and was born at full term. During the examination, she seems a little pale. A smooth mass is palpable in the right upper quadrant of her abdomen. There is no tenderness in her abdomen, and her cardiovascular and respiratory examinations are normal. There is no significant family history to note.

      What is the most appropriate course of action for managing this patient?

      Your Answer: Urgent paediatric review within 48 hours

      Explanation:

      A possible diagnosis for an unexplained enlarged abdominal mass in children is Wilms tumour, which is the most common renal malignancy in this age group. It typically presents as a unilateral mass in the abdomen. Therefore, it is crucial to arrange an urgent paediatric review within 48 hours for assessment and imaging, in accordance with NICE guidelines.

      Delaying diagnosis by opting for an ultrasound scan within 2 weeks or a routine referral to paediatrics is not recommended. While a renal function test will be performed in secondary care, it will not alter the management of the patient.

      It is worth noting that sickle cell disease can be diagnosed using haemoglobin electrophoresis, and it may present with splenomegaly (a left-sided mass). However, in the case of an unexplained enlarged abdominal mass in children, Wilms tumour should be considered as a potential diagnosis and prompt action should be taken.

      Wilms’ Tumour: A Common Childhood Malignancy

      Wilms’ tumour, also known as nephroblastoma, is a prevalent type of cancer in children, with a median age of diagnosis at 3 years old. It is often associated with Beckwith-Wiedemann syndrome, hemihypertrophy, and a loss-of-function mutation in the WT1 gene on chromosome 11. The most common presenting feature is an abdominal mass, which is usually painless, but other symptoms such as haematuria, flank pain, anorexia, and fever may also occur. In 95% of cases, the tumour is unilateral, and metastases are found in 20% of patients, most commonly in the lungs.

      If a child presents with an unexplained enlarged abdominal mass, it is crucial to arrange a paediatric review within 48 hours to rule out Wilms’ tumour. The management of this cancer typically involves nephrectomy, chemotherapy, and radiotherapy if the disease is advanced. Fortunately, the prognosis for Wilms’ tumour is good, with an 80% cure rate.

      Histologically, Wilms’ tumour is characterized by epithelial tubules, areas of necrosis, immature glomerular structures, stroma with spindle cells, and small cell blastomatous tissues resembling the metanephric blastema. Overall, early detection and prompt treatment are essential for a successful outcome in children with Wilms’ tumour.

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  • Question 3 - Which one of the following statements regarding benign rolandic epilepsy is incorrect? ...

    Incorrect

    • Which one of the following statements regarding benign rolandic epilepsy is incorrect?

      Your Answer: Seizures are usually partial in nature

      Correct Answer: Typically occurs between the age of 1 and 3 years

      Explanation:

      Understanding Benign Rolandic Epilepsy

      Benign rolandic epilepsy is a type of epilepsy that commonly affects children between the ages of 4 and 12 years. This condition is characterized by seizures that usually occur at night and are typically partial, affecting only certain parts of the body such as the face. However, in some cases, the seizures may progress to involve the entire body. Despite these symptoms, children with benign rolandic epilepsy are otherwise healthy and normal.

      One of the key diagnostic features of benign rolandic epilepsy is the presence of centrotemporal spikes on an electroencephalogram (EEG). This test measures the electrical activity in the brain and can help doctors identify the specific type of epilepsy a child may have.

      Fortunately, the prognosis for children with benign rolandic epilepsy is excellent. Most children will outgrow their seizures by the time they reach adolescence. While the condition can be concerning for parents, it is important to remember that it is a relatively mild form of epilepsy and doesn’t typically cause any long-term complications.

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  • Question 4 - A 10-year-old boy is brought in by his father. He has been complaining...

    Incorrect

    • A 10-year-old boy is brought in by his father. He has been complaining of hip pain and he is concerned because he has started to limp over the past five weeks. He is otherwise fit and well. Although he regularly plays football with his friends, there is no history of trauma.

      On examination, he is limping a little but is able to weight bear. He appears plump but there is no anaemia or lymphadenopathy. There is no fever. Examination of the knee is normal but you think that the affected leg is shortened and externally rotated a little.

      What is the most likely diagnosis?

      Your Answer:

      Correct Answer: Perthes disease

      Explanation:

      Slipped Upper Epiphysis: Symptoms, Diagnosis, and Treatment

      Slipped upper epiphysis is a condition that commonly affects overweight boys aged 10-15 and is associated with obesity and hypothyroidism. Patients often present with pain, which may be referred to the knee, and a thorough examination of the hips is necessary. Reduced range of movement of abduction and internal rotation, leg shortening, and external rotation with hip flexion are key findings that support the diagnosis.

      Slipped epiphysis can be classified as acute, chronic, or acute on chronic, and as unstable or stable. Unstable cases require urgent surgical repair due to the risk of avascular necrosis, while stable cases are usually treated with in situ screw fixation. Prophylactic fixation of the contralateral hip may also be considered.

      If the slipped epiphysis is chronic and stable, an x-ray is the first line investigation, but U&Es, serum TFTs, and serum growth hormone may also be considered. Perthes disease, trochanteric bursitis, and osteomyelitis are differential diagnoses that should be considered. Perthes disease typically affects a younger age group, while trochanteric bursitis is more common in older adults. Osteomyelitis may present with pain, fever, inflammation, and acute tenderness, but a bone scan or MRI may be necessary for diagnosis.

      In summary, slipped upper epiphysis is a condition that requires careful examination and diagnosis. Treatment depends on the classification of the condition and may involve surgical repair or in situ screw fixation. Differential diagnoses should also be considered to ensure accurate diagnosis and appropriate treatment.

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  • Question 5 - A 30-year-old woman who is 36 weeks pregnant visits her doctor and asks...

    Incorrect

    • A 30-year-old woman who is 36 weeks pregnant visits her doctor and asks if there are any medical conditions in her history that would prevent her from breastfeeding.
      What maternal condition would make breastfeeding not recommended?

      Your Answer:

      Correct Answer: Human immunodeficiency virus (HIV) infection

      Explanation:

      Breastfeeding and Maternal Health: Considerations and Recommendations

      Breastfeeding is a crucial aspect of maternal and infant health, providing numerous benefits for both parties. However, certain health conditions may impact the safety and efficacy of breastfeeding. Here are some considerations and recommendations for breastfeeding mothers:

      Human immunodeficiency virus (HIV) infection: HIV can be transmitted through breast milk, so it is recommended that HIV-positive mothers exclusively formula-feed their infants from birth.

      Hepatitis B: The benefits of breastfeeding outweigh the risk of infection for infants born to mothers with hepatitis B. Infants should receive hepatitis B-specific immunoglobulin and be vaccinated from birth.

      Hepatitis C: Breastfeeding is safe for infants born to mothers with hepatitis C, as there is no evidence of mother-to-infant transmission. However, if the mother’s nipples are cracked and bleeding, it is recommended to abstain from breastfeeding until they are healed.

      Mastitis: Mastitis is a common condition that causes breast pain, swelling, and redness. It is usually caused by Staphylococcus aureus entering through a cracked nipple. Antibiotics may be necessary, but it is recommended to continue breastfeeding or pumping to improve milk flow.

      Vitamin D deficiency: Vitamin D deficiency is prevalent in the UK, and breastfeeding mothers and infants are at risk of developing rickets. It is recommended that both take a daily supplement of vitamin D to prevent this condition.

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  • Question 6 - You see a 9-year-old boy with his mother. She reports that her son...

    Incorrect

    • You see a 9-year-old boy with his mother. She reports that her son initially had a temperature of 37.8 °C along with a sore mouth. She then noticed some new skin lesions on his palms and soles.

      On examination, you note some healing ulcers in the mouth. You note several grey vesicles on the child's palms and soles. He has a reduced appetite but is still drinking plenty of fluids. No amber/red flags are noted.

      What is the SINGLE MOST appropriate NEXT management step?

      Your Answer:

      Correct Answer: Reassure but complete a notification form 'to the proper officer'

      Explanation:

      Managing Hand, Foot and Mouth Disease

      Hand, foot and mouth disease (HFMD) is a common viral illness that affects children. It is important to note that it is unrelated to foot and mouth disease in animals. HFMD is generally managed conservatively, with a focus on encouraging the child to have a good fluid intake. It is not a notifiable illness, so there is no need to complete a notification form.

      If there are any signs of significant dehydration or neurological symptoms, such as persistent headaches or myoclonic jerks, referral to paediatrics should be considered. However, viral swabs are often not used in clinical practice for HFMD, as appropriate and cost-effective management is prioritized.

      It is important for parents to be reassured that HFMD is a common and manageable illness. This guidance applies to the UK, but it may not apply to other countries.

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  • Question 7 - You receive a phone call from the father of a 4-year-old girl who...

    Incorrect

    • You receive a phone call from the father of a 4-year-old girl who you saw earlier in the day and diagnosed with strep throat, starting amoxicillin. At home she has been feverish and sweaty, and Dad describes an episode of her 'going rigid' followed by shaking of all of her limbs for about 1 minute. She is currently sleeping but can be awakened. Other than that, Dad reports no other concerning symptoms. She has never experienced a similar episode before. What would be the best course of action to take next?

      Your Answer:

      Correct Answer: Arrange admission to paediatrics

      Explanation:

      Although febrile seizures are frequent, it is crucial to have a pediatrician confirm the diagnosis and exclude any serious underlying condition. Therefore, according to NICE clinical knowledge summaries, if a child experiences their initial febrile seizure, they must be promptly hospitalized and assessed by a pediatrician.

      It would be inappropriate to merely reassure the mother or postpone the evaluation until the following day. An antibiotic allergy would not typically trigger a seizure.

      Febrile convulsions are seizures that occur in otherwise healthy children when they have a fever. They are most common in children between the ages of 6 months and 5 years, affecting around 3% of children. Febrile convulsions usually occur at the onset of a viral infection when the child’s temperature rises rapidly. The seizures are typically brief, lasting less than 5 minutes, and are usually tonic-clonic in nature.

      There are three types of febrile convulsions: simple, complex, and febrile status epilepticus. Simple febrile convulsions last less than 15 minutes and are generalised seizures. Complex febrile convulsions last between 15 and 30 minutes and may be focal seizures. Febrile status epilepticus lasts for more than 30 minutes. Children who have had their first seizure or any features of a complex seizure should be admitted to paediatrics.

      Following a seizure, parents should be advised to call an ambulance if the seizure lasts longer than 5 minutes. Regular antipyretics have not been shown to reduce the chance of a febrile seizure occurring. If recurrent febrile convulsions occur, benzodiazepine rescue medication may be considered, but this should only be started on the advice of a specialist, such as a paediatrician. Rectal diazepam or buccal midazolam may be used.

      The overall risk of further febrile convulsions is 1 in 3, but this varies depending on risk factors for further seizure. These risk factors include age of onset under 18 months, fever below 39ºC, shorter duration of fever before the seizure, and a family history of febrile convulsions. Children with no risk factors have a 2.5% risk of developing epilepsy, while those with all three risk factors have a much higher risk of developing epilepsy, up to 50%.

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  • Question 8 - A 4-year-old boy has been unwell, looks pale, is anorexic and has lost...

    Incorrect

    • A 4-year-old boy has been unwell, looks pale, is anorexic and has lost weight. He has abdominal pain and a pain in his leg and a limp. You are concerned about his appearance and worry he may have a malignancy.
      Which is the feature that will MOST LIKELY be present if he has a neuroblastoma?

      Your Answer:

      Correct Answer: Abdominal mass

      Explanation:

      Neuroblastoma: Symptoms and Presenting Features

      Neuroblastoma is a solid neoplasm that commonly affects children and arises from sympathetic nervous tissue. The most common symptom is an abdominal mass, which is caused by the tumor location in the adrenal gland. Other symptoms may include bone pain, limping, and anemia due to marrow infiltration. Hypertension is a rare finding, but it can occur due to renal artery compression. Tumors that arise from the thoracic sympathetic chain can produce Horner syndrome, which is characterized by meiosis, ptosis, and absence of sweating of the face. Limb weakness and bladder and bowel problems can occur if the tumor grows through the spinal foramina into the spinal canal, compressing the spinal cord. Periorbital bruising may also be a presenting feature if there is metastatic disease in the orbit. It is important to be aware of these symptoms and to seek medical attention if they occur, as early detection and treatment can improve outcomes.

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  • Question 9 - A 10-month-old baby girl comes to the emergency department with a 2 day...

    Incorrect

    • A 10-month-old baby girl comes to the emergency department with a 2 day history of high fevers and sensitivity to light. During the examination, her temperature is recorded as 40.2ºC. She has a rash that doesn't disappear when pressed and appears lethargic.

      What is the immediate medication that should be administered?

      Your Answer:

      Correct Answer: Benzylpenicillin

      Explanation:

      In case of suspected bacterial meningococcal septicaemia, benzylpenicillin should be administered to the patient without delaying their transfer to the hospital, unless there is a history of anaphylaxis. Ceftriaxone is the preferred treatment in secondary care, while cefotaxime can be used as an alternative if calcium-containing infusions are being given. Ampicillin can also be used in secondary care along with ceftriaxone. If the organism isolated is Listeria monocytogenes, gentamicin should be added to the treatment regimen.

      Understanding Meningococcal Septicaemia

      Meningococcal septicaemia is a serious condition that can cause high morbidity and mortality if not treated early. It is the leading infectious cause of death in early childhood, making it crucial to have a high index of suspicion. According to the 2010 NICE guidelines, meningococcal disease can present as meningitis, septicaemia, or a combination of both.

      NICE divides the symptoms of meningococcal septicaemia into three categories: common nonspecific symptoms/signs, less common nonspecific symptoms/signs, and more specific symptoms/signs. Common nonspecific symptoms/signs include fever, vomiting, and lethargy, while less common nonspecific symptoms/signs include chills and shivering. More specific symptoms/signs include a non-blanching rash, altered mental state, capillary refill time more than 2 seconds, unusual skin colour, shock, hypotension, leg pain, and cold hands/feet.

      If meningococcal septicaemia is suspected, it is important to give intramuscular or intravenous benzylpenicillin unless there is a history of anaphylaxis. However, if giving benzylpenicillin will delay hospital transfer, it should not be given. NICE recommends phoning 999 in case of suspected meningococcal septicaemia.

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  • Question 10 - A 6-year-old boy is brought in by his parents. He has had 3...

    Incorrect

    • A 6-year-old boy is brought in by his parents. He has had 3 episodes of acute otitis media in the past year and his teachers have noticed that he seems to be having difficulty hearing. His medical history includes a diagnosis of ADHD. During the examination, you observe a dull left-sided tympanic membrane and diagnose otitis media with effusion. What would be the most suitable course of action?

      Your Answer:

      Correct Answer: Refer urgently for specialist ear, nose and throat assessment

      Explanation:

      The patient’s Down’s syndrome is the key factor in determining the answer to this question. According to the NICE guidelines on otitis media, most children can be actively observed for 6-12 weeks as the condition often resolves on its own. However, if the patient has a history of cleft palate or Trisomy 21, urgent specialist assessment is recommended. Antibiotics and decongestants are not necessary in this case. Referral for audiology may also cause a delay in treatment.

      Vision and Hearing Issues in Down’s Syndrome

      Individuals with Down’s syndrome are at a higher risk of experiencing vision and hearing problems. When it comes to vision, they are more likely to have refractive errors, which can cause blurred vision. Strabismus, a condition where the eyes do not align properly, is also common in 20-40% of individuals with Down’s syndrome. Cataracts, which can cause cloudiness in the eye lens, are more prevalent in those with Down’s syndrome, both congenital and acquired. Recurrent blepharitis, an inflammation of the eyelids, and glaucoma, a condition that damages the optic nerve, are also potential issues.

      In terms of hearing, otitis media and glue ear are very common in individuals with Down’s syndrome. These conditions can lead to hearing problems, which can affect speech and language development. It is important for individuals with Down’s syndrome to receive regular vision and hearing screenings to detect and address any issues early on.

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  • Question 11 - You see a 3-month old baby girl with her mother. She is worried...

    Incorrect

    • You see a 3-month old baby girl with her mother. She is worried about her daughter's weight gain as she seems to be struggling. The baby is formula fed and frequently vomits after feeds. She also has loose stools which have been blood stained today. Her mother has noticed that she develops a raised red rash around her mouth after feeds. The baby seems to experience abdominal pain after feeds and draws her knees up to her stomach.

      You suspect that the baby has cows milk protein allergy and discuss this with her mother before referring her for acute admission under the paediatric team for urgent assessment.

      Which statement below regarding cows' milk protein allergy is correct?

      Your Answer:

      Correct Answer: Typically presents in the first 3 months of life in formula-fed infants

      Explanation:

      To confirm the suspected IgE mediated allergy diagnosis, an atopy patch test is utilized.

      Cow’s milk protein intolerance/allergy (CMPI/CMPA) is a condition that affects approximately 3-6% of children and typically presents in formula-fed infants within the first 3 months of life. However, it can also occur in exclusively breastfed infants, although this is rare. Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions can occur, with CMPA usually used to describe immediate reactions and CMPI for mild-moderate delayed reactions. Symptoms of CMPI/CMPA include regurgitation and vomiting, diarrhea, urticaria, atopic eczema, colic symptoms such as irritability and crying, wheezing, chronic cough, and rarely, angioedema and anaphylaxis.

      Diagnosis of CMPI/CMPA is often based on clinical presentation, such as improvement with cow’s milk protein elimination. However, investigations such as skin prick/patch testing and total IgE and specific IgE (RAST) for cow’s milk protein may also be performed. If symptoms are severe, such as failure to thrive, referral to a pediatrician is necessary.

      Management of CMPI/CMPA depends on whether the child is formula-fed or breastfed. For formula-fed infants with mild-moderate symptoms, extensive hydrolyzed formula (eHF) milk is the first-line replacement formula, while amino acid-based formula (AAF) is used for infants with severe CMPA or if there is no response to eHF. Around 10% of infants with CMPI/CMPA are also intolerant to soy milk. For breastfed infants, mothers should continue breastfeeding while eliminating cow’s milk protein from their diet. Calcium supplements may be prescribed to prevent deficiency while excluding dairy from the diet. When breastfeeding stops, eHF milk should be used until the child is at least 12 months old and for at least 6 months.

      The prognosis for CMPI/CMPA is generally good, with most children eventually becoming milk tolerant. In children with IgE-mediated intolerance, around 55% will be milk tolerant by the age of 5 years, while in children with non-IgE mediated intolerance, most will be milk tolerant by the age of 3 years. However, a challenge is often performed in a hospital setting as anaphylaxis can occur.

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  • Question 12 - A father contacts the clinic regarding his 3-year-old daughter who was recently diagnosed...

    Incorrect

    • A father contacts the clinic regarding his 3-year-old daughter who was recently diagnosed with strep throat and prescribed antibiotics. He neglected to inquire about the duration of time she should stay home from preschool. What guidance should be provided?

      Your Answer:

      Correct Answer: 48 hours after commencing antibiotics

      Explanation:

      After starting antibiotics, children with whooping cough can go back to school or nursery within 48 hours, typically with a macrolide.

      A vaccination programme for pregnant women was introduced in 2012 to combat an outbreak of whooping cough that resulted in the death of 14 newborn children. The vaccine is over 90% effective in preventing newborns from developing whooping cough. The programme was extended in 2014 due to uncertainty about future outbreaks. Pregnant women between 16-32 weeks are offered the vaccine.

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  • Question 13 - A 6-month-old is brought to your clinic with suspected reflux. The parents report...

    Incorrect

    • A 6-month-old is brought to your clinic with suspected reflux. The parents report that the baby has been experiencing regurgitation after feeds and becomes very distressed. The baby is fully formula-fed and has been difficult to feed. However, the baby is gaining weight well and is otherwise healthy. There is a family history of reflux, with the baby's older sibling having had reflux in infancy. Upon examination, the baby doesn't have tongue-tie, has a normal suck-reflex, and the abdominal examination is reassuring. What steps should be taken to address the suspected reflux?

      Your Answer:

      Correct Answer: Trial of alginate added to the formula

      Explanation:

      While positional management of gastro-oesophageal reflux may seem logical, it is important to note that infants should always sleep on their backs to minimize the risk of cot death. Although there are no concerning symptoms, it is advisable to provide treatment for the child’s distress. It is not recommended to increase the volume of feeds as this may exacerbate reflux. Instead, smaller and more frequent feeds could be considered. Diluting the feeds will not improve symptoms and may actually increase the volume in the stomach.

      Gastro-oesophageal reflux is a common cause of vomiting in infants, with around 40% of babies experiencing some degree of regurgitation. However, certain risk factors such as preterm delivery and neurological disorders can increase the likelihood of developing this condition. Symptoms typically appear before 8 weeks of age and include vomiting or regurgitation, milky vomits after feeds, and excessive crying during feeding. Diagnosis is usually made based on clinical observation.

      Management of gastro-oesophageal reflux in infants involves advising parents on proper feeding positions, ensuring the infant is not overfed, and considering a trial of thickened formula or alginate therapy. However, proton pump inhibitors (PPIs) are not recommended as a first-line treatment for isolated symptoms of regurgitation. PPIs may be considered if the infant experiences unexplained feeding difficulties, distressed behavior, or faltering growth. Metoclopramide, a prokinetic agent, should only be used with specialist advice.

      Complications of gastro-oesophageal reflux can include distress, failure to thrive, aspiration, frequent otitis media, and dental erosion in older children. If medical treatment is ineffective and severe complications arise, fundoplication may be considered. It is important for healthcare professionals to be aware of the risk factors, symptoms, and management options for gastro-oesophageal reflux in infants.

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  • Question 14 - In clinic, two male patients with Marfan syndrome are being evaluated. Both individuals...

    Incorrect

    • In clinic, two male patients with Marfan syndrome are being evaluated. Both individuals have confirmed mutations in the FBN1 gene on chromosome 15. Despite being close in age, one patient displays severe skeletal abnormalities such as marked thoracic lordosis and pectus excavatum, while the other has a nearly normal skeletal examination. What genetic concept can best explain the variation in phenotype between these two patients?

      Your Answer:

      Correct Answer: Expressivity

      Explanation:

      Expressivity is a term used in genetics to describe how much a genotype is expressed in an individual’s phenotype. This can vary greatly, even among individuals with the same gene. Neurofibromatosis type 1 is an example of a condition with high phenotypic variability due to expressivity. Penetrance is a similar concept, but it looks at the statistical variability of a genotype in a population. Incomplete penetrance occurs when the genotype is present but the phenotype is not observed, which can explain why some monogenic disorders do not follow predictable inheritance patterns. Hemingway’s cats in Florida showed high penetrance but variable expression of polydactyly, where the gene always caused extra toes but the number varied. Aneuploidy is when there is an abnormal number of chromosomes in a cell, such as in Down syndrome. Anticipation refers to the increasing severity of an inherited disorder in subsequent generations, as seen in Huntington’s disease.

      Understanding Penetrance and Expressivity in Genetic Disorders

      Penetrance and expressivity are two important concepts in genetics that help explain why individuals with the same gene mutation may exhibit different degrees of observable characteristics. Penetrance refers to the proportion of individuals in a population who carry a disease-causing allele and express the related disease phenotype. In contrast, expressivity describes the extent to which a genotype shows its phenotypic expression in an individual.

      There are several factors that can influence penetrance and expressivity, including modifier genes, environmental factors, and allelic variation. For example, some genetic disorders, such as retinoblastoma and Huntington’s disease, exhibit incomplete penetrance, meaning that not all individuals with the disease-causing allele will develop the condition. On the other hand, achondroplasia shows complete penetrance, meaning that all individuals with the disease-causing allele will develop the condition.

      Expressivity, on the other hand, describes the severity of the phenotype. Some genetic disorders, such as neurofibromatosis, exhibit a high level of expressivity, meaning that the phenotype is more severe in affected individuals. Understanding penetrance and expressivity is important in genetic counseling and can help predict the likelihood and severity of a genetic disorder in individuals and their families.

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  • Question 15 - A 9-month-old boy has a temperature of 38.5°C. You first saw the child...

    Incorrect

    • A 9-month-old boy has a temperature of 38.5°C. You first saw the child two days ago and the child has been febrile since then. He now has a faint erythematous macular rash that blanches on pressure. The parents are anxious.
      Which option would be MOST IMPORTANT in making the decision to admit the child to hospital?

      Your Answer:

      Correct Answer: Increasing family anxiety

      Explanation:

      Identifying Red Flags in Febrile Children

      Febrile illness in children can be a cause of concern for parents and healthcare providers. While most cases are self-limiting and resolve without complications, some may require urgent medical attention. It is important to identify red flags that indicate a potentially serious underlying condition.

      Factors that may increase family anxiety include a history of serious illness or death due to feverish illness, other illnesses affecting the child or family members, and parental instinct. Parents should not ignore their intuition and seek medical advice if they are concerned.

      While there are no set rules about how long a fever should last, parents should seek further advice if their child has been febrile for five days without resolution. In infants aged 0-3 months, a temperature of >38°C is a red flag, while a temperature of >39°C in infants aged 3-6 months is an amber flag. After six months of age, the temperature alone is no longer an indicator of intermediate or high risk.

      Reduced fluid intake, dry mucous membranes, reduced urine output, and reduced skin turgor are amber warning signs that require medical attention. A blanching erythematous rash is likely to indicate a viral infection and is not a cause for concern. However, non-blanching petechiae and patches in a sick child suggest meningococcal disease and require urgent medical attention.

      In conclusion, identifying red flags in febrile children is crucial for timely diagnosis and management of potentially serious conditions. Parents should seek medical advice if they are concerned about their child’s health.

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  • Question 16 - A 16-year-old student presents with a three week history of a flu-like illness,...

    Incorrect

    • A 16-year-old student presents with a three week history of a flu-like illness, which progressed after a week to paroxysms of coughing.

      He was previously healthy and believes he received all the recommended childhood vaccinations.

      Upon examination, he has no fever and his chest sounds clear. You suspect he may have pertussis.

      What is the most suitable test to confirm the diagnosis?

      Your Answer:

      Correct Answer: Serology for anti-pertussis IgG antibodies

      Explanation:

      Diagnostic Tests for Pertussis

      In diagnosing pertussis, the appropriate test depends on the age of the patient and the timing of their symptoms. For children under 12 months old who are hospitalized, PCR testing is recommended. For those who are not hospitalized, a culture of a pernasal swab is preferred.

      For patients over 12 months old and adults, a culture of a pernasal swab is recommended within two weeks of symptom onset or 48 hours of antibiotic therapy. However, if the patient presents more than two weeks after symptom onset or has been on antibiotics for more than 48 hours, serology testing for anti-pertussis IgG antibodies is the most appropriate diagnostic test.

      It is important to note that culture testing for Bordetella pertussis is unlikely to be positive beyond two weeks from symptom onset, and a negative result doesn’t exclude pertussis infection. CXR and FBC testing are not specific or diagnostic for pertussis. PCR testing is useful for young infants or late in the disease after antibiotics have been administered, but it is not the recommended test in this scenario.

      Overall, understanding and implementing national guidelines for respiratory problems is crucial for accurate diagnosis and treatment of pertussis.

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  • Question 17 - A 5-year-old girl presents with a three-day history of ‘puffiness’ around her eyes....

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    • A 5-year-old girl presents with a three-day history of ‘puffiness’ around her eyes. She seems well in herself and her mother is concerned that she may have hay fever. On examination, she has some pitting oedema around her ankles where her socks have been, but is otherwise well. Dipstick testing of her urine reveals protein 4+ and blood 1+.
      What is the most likely diagnosis?

      Your Answer:

      Correct Answer: Nephrotic syndrome

      Explanation:

      Nephrotic syndrome is a condition characterized by proteinuria, oedema, hyperlipidaemia, and hypoalbuminaemia. Children typically present with periorbital oedema, while adults usually present with ankle oedema. Proteinuria can be measured using an early-morning urinary protein: creatinine ratio, with a ratio greater than 300-350 mg/mmol being suggestive. Microscopic haematuria may also be present. Urgent referral is necessary.

      Idiopathic primary nephrotic syndrome, which includes minimal-change glomerular disease or focal segmental glomerulosclerosis, accounts for over 75% of cases in children. Kidney biopsy is not always necessary, and treatment usually begins with a trial of corticosteroids. Approximately 90% of children with minimal-change disease achieve remission after the initial course of treatment, while relapses are common and may continue into adulthood.

      Angioedema, haemolytic-uraemic syndrome, urinary tract infection, and Wilms’ tumour are not associated with nephrotic syndrome. Angioedema is characterized by abrupt and transient swelling of deep dermis, subcutaneous, or submucosal tissue due to vascular leakage, while haemolytic-uraemic syndrome is associated with progressive renal failure, haemolytic anaemia, and thrombocytopaenia. Urinary tract infection typically presents with specific symptoms such as frequency, dysuria, and pain, while Wilms’ tumour presents as an asymptomatic abdominal mass.

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  • Question 18 - What medical condition in a child would require circumcision? ...

    Incorrect

    • What medical condition in a child would require circumcision?

      Your Answer:

      Correct Answer: Recurrent balanitis

      Explanation:

      Patients who suffer from chronic balanitis or recurrent episodes of the condition should be referred to a specialist for further evaluation and treatment. Recurrent balanitis can lead to phimosis, a condition where the foreskin becomes tight and difficult to retract, and in some cases, circumcision may be necessary to prevent further complications.

      • Ambiguous Genitalia:
        • Description: Ambiguous genitalia is a condition where a newborn’s external genitals do not appear to be clearly male or female. It can be part of a disorder of sex development (DSD).
        • Circumcision Consideration: Circumcision is generally not performed as part of initial management for ambiguous genitalia. The condition requires careful evaluation, diagnosis, and sometimes gender assignment surgery, which may include or exclude circumcision.
      • Cryptorchidism:
        • Description: Cryptorchidism refers to undescended testes, where one or both testicles fail to descend into the scrotum.
        • Circumcision Consideration: Circumcision is not indicated for cryptorchidism. The standard treatment is orchidopexy, a surgical procedure to move the undescended testicle into the scrotum.
      • Recurrent Balanitis:
        • Description: Balanitis is inflammation of the glans penis, often associated with infection. Recurrent episodes can lead to discomfort, infection, and difficulty in hygiene.
        • Circumcision Consideration: Circumcision is often recommended for recurrent balanitis to prevent further episodes. Removal of the foreskin reduces the risk of infection and improves hygiene.
      • Hypospadias:
        • Description: Hypospadias is a congenital condition where the urethral opening is located on the underside of the penis rather than at the tip.
        • Circumcision Consideration: Circumcision is not performed in infants with hypospadias as the foreskin may be needed for surgical repair of the urethra (urethroplasty). Surgery to correct hypospadias is typically done between 6-18 months of age.
      • Non-retractile Foreskin in a 4-year-old Child:
        • Description: Non-retractile foreskin (physiological phimosis) is normal in young children and usually resolves by age 5-7 as the foreskin becomes more retractable.
        • Circumcision Consideration: Circumcision is not recommended for physiological phimosis in young children unless there are complications such as recurrent infections or significant ballooning during urination.

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  • Question 19 - Sophie is a 2-year-old girl who is brought in by her father. She...

    Incorrect

    • Sophie is a 2-year-old girl who is brought in by her father. She has had a fever overnight, along with a sore throat and cough. Her father is worried that she seems more tired than usual today. During the examination, you note the following:

      Temperature 38.5 degrees
      Heart rate 160 bpm
      Respiratory rate 40 / min
      Oxygen saturation 95%

      The lungs are clear, but there is inflammation and redness in the throat, and there are swollen lymph nodes in the neck.

      According to the NICE traffic light system for assessing fever in children, which of the following is considered 'amber'?

      Your Answer:

      Correct Answer: Heart rate 155 bpm

      Explanation:

      The NICE Feverish illness in children guidelines were introduced in 2007 and updated in 2013 to provide a ‘traffic light’ system for assessing the risk of febrile illness in children under 5 years old. The guidelines recommend recording the child’s temperature, heart rate, respiratory rate, and capillary refill time, as well as looking for signs of dehydration. Measuring temperature should be done with an electronic thermometer in the axilla for children under 4 weeks or with an electronic/chemical dot thermometer in the axilla or an infra-red tympanic thermometer. The risk stratification table categorizes children as green (low risk), amber (intermediate risk), or red (high risk) based on their symptoms. Management recommendations vary depending on the risk level, with green children managed at home, amber children provided with a safety net or referred to a specialist, and red children urgently referred to a specialist. The guidelines also advise against prescribing oral antibiotics without an apparent source of fever and note that a chest x-ray is not necessary if a child with suspected pneumonia is not being referred to the hospital.

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  • Question 20 - A mother brings her 4-year-old child for a routine check-up and mentions her...

    Incorrect

    • A mother brings her 4-year-old child for a routine check-up and mentions her 6-year-old son. She expresses concern about meningitis B due to a friend's experience with the disease. When is the meningitis B vaccine typically administered?

      Your Answer:

      Correct Answer: 2 months + 4 months + 12-13 months

      Explanation:

      Meningitis B Vaccine Now Part of Routine NHS Immunisation

      Children in the UK have been receiving immunisation against meningococcus serotypes A and C for many years. However, this led to meningococcal B becoming the most common cause of bacterial meningitis in the country. To address this, a vaccine against meningococcal B called Bexsero was developed and introduced to the UK market.

      Initially, the Joint Committee on Vaccination and Immunisation (JCVI) rejected the use of Bexsero after conducting a cost-benefit analysis. However, this decision was eventually reversed, and meningitis B has now been added to the routine NHS immunisation. Children will receive three doses of the vaccine at 2 months, 4 months, and 12-13 months.

      Moreover, Bexsero will also be available on the NHS for patients at high risk of meningococcal disease, such as those with asplenia, splenic dysfunction, or complement disorder. With the inclusion of meningitis B vaccine in the routine NHS immunisation, the UK hopes to reduce the incidence of bacterial meningitis and protect more children and high-risk patients from the disease.

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  • Question 21 - A mother has noticed that her 2-year-old daughter takes little interest in other...

    Incorrect

    • A mother has noticed that her 2-year-old daughter takes little interest in other children. She comes to clinic concerned the child may have autism.
      Which of the following features is most suggestive of a diagnosis of autistic spectrum disorder in a child of this age?

      Your Answer:

      Correct Answer: Lack of gestures (eg pointing, waving goodbye)

      Explanation:

      Identifying Early Signs of Autism Spectrum Disorder

      Autism spectrum disorder is a complex developmental condition that affects social interactions and restricts interests. Early identification is crucial for effective intervention. Here are some important indicators that should lead to further evaluation in a young child:

      – Lack of gestures (e.g. pointing, waving goodbye) by 12 months
      – No use of single words by 16 months
      – No use of two-word phrases by 24 months
      – Regression of language or social skills at any time
      – Reduced or missing ‘make-believe’ play

      It’s important to note that not all children with autism will display these signs, and some may develop typically before showing symptoms. However, if you have concerns about your child’s development, it’s always best to seek professional advice.

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  • Question 22 - You are reviewing a 4-year-old boy who is under the paediatric cardiologists with...

    Incorrect

    • You are reviewing a 4-year-old boy who is under the paediatric cardiologists with a congenital heart condition. He is prescribed propranolol.

      The latest hospital letter following a recent appointment has advised an increase in his dosage from 0.25 mg/kg three times daily to a dose of 0.5 mg/kg three times daily.

      His current weight is 15 kg. Propranolol oral solution is dispensed at a concentration of 5 mg/5 ml.

      What is the correct dosage in millilitres to prescribe?

      Your Answer:

      Correct Answer: 6 ml TDS

      Explanation:

      Calculation of Propranolol Dose

      When calculating the dose of propranolol, it is important to consider the patient’s weight and the daily dose required. For example, if the patient weighs 12 kg and requires a daily dose of 0.5 mg/kg, the total daily dose would be 6 mg TDS.

      To determine the amount of propranolol needed, it is important to know the concentration of the medication. In this case, the concentration is 5 mg/5 ml, which can be simplified to 1 mg/1 ml. Therefore, the total daily dose of 6 mg would be equivalent to 6 ml TDS.

      It is important to accurately calculate the dose of propranolol to ensure the patient receives the appropriate amount of medication for their condition. By considering the patient’s weight and the medication concentration, healthcare professionals can determine the correct dosage for their patients.

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  • Question 23 - You are treating a group of teenagers for head lice after a live...

    Incorrect

    • You are treating a group of teenagers for head lice after a live head louse is found in one of them. You are giving some general advice. Which of the following is appropriate advice to give?

      Your Answer:

      Correct Answer: Children who are being treated for head lice can still attend school

      Explanation:

      Understanding Head Lice: Causes, Symptoms, and Management

      Head lice, also known as pediculosis capitis or ‘nits’, is a common condition in children caused by a parasitic insect called Pediculus capitis. These small insects live only on humans and feed on our blood. The eggs, which are grey or brown and about the size of a pinhead, are glued to the hair close to the scalp and hatch in 7 to 10 days. Nits, on the other hand, are the empty egg shells and are white and shiny. They are found further along the hair shaft as they grow out.

      Head lice are spread by direct head-to-head contact and tend to be more common in children who play closely together. It is important to note that head lice cannot jump, fly, or swim. When newly infected, cases have no symptoms, but itching and scratching on the scalp occur 2 to 3 weeks after infection. There is no incubation period.

      To diagnose head lice, fine-toothed combing of wet or dry hair is necessary. Treatment is only indicated if living lice are found. A choice of treatments should be offered, including malathion, wet combing, dimeticone, isopropyl myristate, and cyclomethicone. Household contacts of patients with head lice do not need to be treated unless they are also affected. It is important to note that school exclusion is not advised for children with head lice.

      In conclusion, understanding the causes, symptoms, and management of head lice is crucial in preventing its spread. By taking the necessary precautions and seeking appropriate treatment, we can effectively manage this common condition.

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  • Question 24 - A 7-month-old girl presents with diarrhoea and vomiting. She has vomited twice and...

    Incorrect

    • A 7-month-old girl presents with diarrhoea and vomiting. She has vomited twice and had about four diarrhoea stools in the previous 24 h. There is no obvious sign of dehydration. She was born at 37 weeks’ gestation with a low birthweight but has gained weight adequately since then.
      What is the most appropriate next management choice?

      Your Answer:

      Correct Answer: Oral rehydration salt solution should be given

      Explanation:

      Managing Gastroenteritis in Children: Importance of Oral Rehydration Salt Solution

      Gastroenteritis is a common condition in children, which can lead to dehydration if not managed properly. While most children do not show signs of dehydration, those at increased risk should be given oral rehydration salt solution as supplemental fluid. According to the National Institute for Health and Care Excellence (NICE), children at increased risk include infants younger than one year, those who have passed more than five loose stools or vomited more than twice in the previous 24 hours, and those with signs of malnutrition.

      It is important to note that feeding with formula or breast milk should continue if the child can tolerate it. Solid food should not be given, and fruit juices or carbonated drinks should be avoided due to their high osmolarity. While extra fluid intake should generally be encouraged, it may not be enough for children with multiple risk factors for dehydration. Therefore, oral rehydration salt solution should be given as recommended by healthcare professionals.

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  • Question 25 - A father brings his 2-year-old son to your GP clinic. The child has...

    Incorrect

    • A father brings his 2-year-old son to your GP clinic. The child has been experiencing symptoms of a cold for the past 2 days. Last night, he developed a barking cough and a slight fever of 37.8º.

      During the examination, you notice mild stridor when the child moves around, but there are no visible recessions. The chest sounds clear, and there is good air entry on both sides. The temperature remains at 37.8º, but all other vital signs are normal.

      What is the most appropriate course of action for management?

      Your Answer:

      Correct Answer: Give a stat dose of dexamethasone 150 micrograms/kg PO

      Explanation:

      For a child with croup, a single dose of oral dexamethasone (0.15 mg/kg) should be taken immediately regardless of the severity of the illness. Croup typically begins with cold-like symptoms and progresses to a barking cough with a seal-like sound. The severity of croup can be determined by the presence of symptoms such as stridor, recessions, and distress. In this case, the child has mild croup and hospital admission is not necessary. Nebulized adrenaline is only recommended for children with severe symptoms, while a salbutamol inhaler is not effective for croup. Antibiotics are not useful for treating croup as it is a viral illness. Steroids, such as dexamethasone, have been shown to alleviate symptoms and reduce the need for hospitalization.

      Croup is a respiratory infection that affects young children, typically those between 6 months and 3 years old. It is most common in the autumn and is caused by parainfluenza viruses. The main symptom is stridor, which is caused by swelling and secretions in the larynx. Other symptoms include a barking cough, fever, and cold-like symptoms. The severity of croup can be graded based on the child’s symptoms, with mild cases having occasional coughing and no audible stridor at rest, and severe cases having frequent coughing, prominent stridor, and significant distress or lethargy. Children with moderate or severe croup should be admitted to the hospital, especially if they are under 6 months old or have other airway abnormalities. Diagnosis is usually made based on clinical symptoms, but a chest x-ray can show subglottic narrowing. Treatment typically involves a single dose of oral dexamethasone or prednisolone, and emergency treatment may include high-flow oxygen or nebulized adrenaline.

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  • Question 26 - A father brings in his 10 month old daughter who has been experiencing...

    Incorrect

    • A father brings in his 10 month old daughter who has been experiencing a persistent nappy rash despite his best efforts to care for her skin. The baby seems uncomfortable but is otherwise healthy. Upon examination, the nappy area shows patches of red, oozing skin with a few scattered pustules. The baby doesn't have a fever.

      What could be the reason for this skin reaction?

      Your Answer:

      Correct Answer: Bacterial infection

      Explanation:

      Nappy rash is a common condition that affects infants who wear nappies. It is most prevalent between the ages of 9 and 12 months, but can also affect older children and adults who are incontinent.

      The rash typically appears as red patches and bumps in the nappy area, with the skin folds being spared. Infants may appear uncomfortable and distressed. It is important to look out for signs of secondary infection, especially if the rash persists despite initial treatment. Secondary bacterial infections can cause marked redness, exudate, pustules, papules or blisters. If a bacterial infection is suspected or confirmed, NICE recommends a seven-day course of flucloxacillin (or clarithromycin if the patient is allergic to penicillin).

      Understanding Napkin Rashes and How to Manage Them

      Napkin rashes, also known as nappy rashes, are common skin irritations that affect babies and young children. The most common cause of napkin rash is irritant dermatitis, which is caused by the irritant effect of urinary ammonia and faeces. This type of rash typically spares the creases. Other causes of napkin rash include candida dermatitis, seborrhoeic dermatitis, psoriasis, and atopic eczema.

      To manage napkin rash, it is recommended to use disposable nappies instead of towel nappies and to expose the napkin area to air when possible. Applying a barrier cream, such as Zinc and castor oil, can also help. In severe cases, a mild steroid cream like 1% hydrocortisone may be necessary. If the rash is suspected to be candidal nappy rash, a topical imidazole should be used instead of a barrier cream until the candida has settled.

      It is important to note that napkin rash can be uncomfortable for babies and young children, so it is essential to manage it promptly. By following these general management points, parents and caregivers can help prevent and manage napkin rashes effectively.

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  • Question 27 - A 4-year-old boy is brought in for a routine check-up. His parents express...

    Incorrect

    • A 4-year-old boy is brought in for a routine check-up. His parents express concern about his decreased appetite and increased fatigue over the past few weeks. They note that he has not lost weight, but he has not grown out of any of his clothes in the last 6 months. During the examination, the boy appears pale, weighs 14kg, and has a non-tender mass on the right side of his abdomen. He also has a low-grade fever, and a urinalysis shows microscopic hematuria. What is the most likely diagnosis?

      Your Answer:

      Correct Answer: Nephroblastoma

      Explanation:

      The probable diagnosis in this case is Wilm’s tumour, also known as nephroblastoma. The patient, who is a child, has an abdominal mass on one side and has shown signs of renal pathology such as haematuria on dipstick testing. Constipation is an unlikely diagnosis as it would not explain the presence of fever, failure to thrive or haematuria.

      Wilms’ Tumour: A Common Childhood Malignancy

      Wilms’ tumour, also known as nephroblastoma, is a prevalent type of cancer in children, with a median age of diagnosis at 3 years old. It is often associated with Beckwith-Wiedemann syndrome, hemihypertrophy, and a loss-of-function mutation in the WT1 gene on chromosome 11. The most common presenting feature is an abdominal mass, which is usually painless, but other symptoms such as haematuria, flank pain, anorexia, and fever may also occur. In 95% of cases, the tumour is unilateral, and metastases are found in 20% of patients, most commonly in the lungs.

      If a child presents with an unexplained enlarged abdominal mass, it is crucial to arrange a paediatric review within 48 hours to rule out Wilms’ tumour. The management of this cancer typically involves nephrectomy, chemotherapy, and radiotherapy if the disease is advanced. Fortunately, the prognosis for Wilms’ tumour is good, with an 80% cure rate.

      Histologically, Wilms’ tumour is characterized by epithelial tubules, areas of necrosis, immature glomerular structures, stroma with spindle cells, and small cell blastomatous tissues resembling the metanephric blastema. Overall, early detection and prompt treatment are essential for a successful outcome in children with Wilms’ tumour.

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  • Question 28 - You are asked to see a 3-day-old newborn baby who was born by...

    Incorrect

    • You are asked to see a 3-day-old newborn baby who was born by normal vaginal delivery without any complications. The parents report that the baby has suddenly become ill and deteriorated over the last few hours. The child is drowsy and lethargic, has a bulging fontanelle, and a high fever. You suspect meningitis and call for immediate transfer to the hospital.
      What is the most probable causative agent for this condition?

      Your Answer:

      Correct Answer: Group B Streptococcus

      Explanation:

      Newborn Meningitis: Signs, Causes, and Consequences

      Sepsis in newborns can cause nonspecific signs of unwellness, such as apnoeic episodes, drowsiness, lethargy, and irritability. However, meningitis in newborns may present differently, with a bulging fontanelle being a late and sometimes absent finding. The most common cause of meningitis in newborns is group B streptococcus (GBS), which is often transmitted vertically during labor and delivery. In some cases, infection may be delayed for up to one month.

      Meningitis as a whole has significant morbidity and mortality rates, with a mortality rate of 5-15% in infants. Even those who survive may experience learning difficulties, speech problems, visual impairment, and neural deafness. Recently, NICE has issued guidance on the prehospital care of patients with a clinical diagnosis of meningitis. It is crucial to recognize the signs of meningitis in newborns and seek prompt medical attention to prevent severe consequences.

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  • Question 29 - A 4-week-old girl is referred to you by the health visitor after her...

    Incorrect

    • A 4-week-old girl is referred to you by the health visitor after her mother noticed that she ‘looked yellow’. On examination, she is jaundiced, with dark urine and pale stools. Examination is otherwise normal. The mother had an uneventful pregnancy and birth, and the baby has had vitamin K.
      What is the most likely diagnosis?

      Your Answer:

      Correct Answer: Biliary atresia

      Explanation:

      Neonatal Jaundice: Differential Diagnosis

      Biliary atresia is a congenital condition that causes obstructive jaundice due to the obliteration of the extrahepatic biliary system. It presents soon after birth with persistent jaundice, pale stools, and dark urine. Physiological jaundice, which appears after 2-3 days of age, is a different condition that doesn’t cause changes in stool and urine color. Gallstones and Rhesus incompatibility can also present with obstructive jaundice, but they are less likely. Vitamin K deficiency is not a likely cause of neonatal jaundice if the child has received vitamin K soon after birth. Any term infant who is still jaundiced after 14 days (or preterm infants after 21 days) should be investigated for the underlying cause of their jaundice.

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  • Question 30 - A 7-year-old boy has had three episodes of central abdominal pain in the...

    Incorrect

    • A 7-year-old boy has had three episodes of central abdominal pain in the last three months, each lasting a few days. The pain variably increases and decreases during an episode. It has been severe enough to affect school attendance. When his mother brings him she has no pain and physical examination is normal.
      Select from this list the most likely eventual finding for the cause of the symptoms in this boy.

      Your Answer:

      Correct Answer: No cause will be found

      Explanation:

      Recurrent Abdominal Pain in Children: Possible Causes and Diagnosis

      Recurrent abdominal pain is a common complaint among children, but it is often difficult to identify the underlying cause. In many cases, no organic pathology can be found, but a significant number of cases are organic and require careful examination and investigation. Recurrent abdominal pain is defined as pain that occurs for at least three episodes within three months and is severe enough to affect a child’s activities.

      The most probable causes of recurrent abdominal pain in children are irritable bowel syndrome, abdominal migraine/periodic syndrome, constipation, mesenteric adenitis, and urinary tract infections. However, other possible causes should also be considered.

      Despite the lack of organic pathology in most cases, psychological factors are not always the cause. A study found no significant differences in emotional and behavioral scores between patients with organic pathology and those without. Therefore, a thorough examination and investigation are necessary to identify the underlying cause of recurrent abdominal pain in children.

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  • Question 31 - A 16-year-old mother brings her 8-month-old son to the emergency surgery, concerned about...

    Incorrect

    • A 16-year-old mother brings her 8-month-old son to the emergency surgery, concerned about his breathing pattern. She thinks he may have asthma as he seems to be breathing faster than her 5-year-old nephew.

      The mother reports no cough or wheeze, and the child has no fever or rash. He is happily playing in the clinic room, and there are no developmental issues or family history of atopy.

      Upon clinical examination, there is no respiratory distress, and the chest is clear bilaterally. All other systems appear normal. The following are the child's observations:
      Heart Rate 125 beats per minute
      Respiratory Rate 32 breaths per minute
      Saturations 98% on air
      Temperature 37.2ºC

      What is the most appropriate course of action?

      Your Answer:

      Correct Answer: Reassure the mother findings are normal

      Explanation:

      A child under 1 typically has a normal respiratory rate of 30-40 breaths per minute. The AKT may test knowledge of normal ranges, and sometimes the best course of action is to do nothing.

      If a mother expresses concern about her child’s respiratory rate being higher than an older child’s, but the child’s rate is within the normal range for their age group (such as 34 breaths per minute), referral or medication would not be necessary and would be a misuse of resources.

      During a physical examination of a child, certain vital signs are checked to ensure that they fall within normal ranges. These ranges vary depending on the age of the child. For example, a heart rate of 110-160 beats per minute is considered normal for a child under the age of one, while a heart rate of 80-100 beats per minute is normal for a child over the age of 12. Similarly, systolic blood pressure, which measures the pressure in the arteries when the heart beats, and respiratory rate, which measures the number of breaths per minute, also have different normal ranges depending on the child’s age. It is important for healthcare professionals to be aware of these normal ranges in order to identify any potential health concerns in children.

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  • Question 32 - A 5-year-old girl who is in good health is placed in foster care....

    Incorrect

    • A 5-year-old girl who is in good health is placed in foster care. There is no known medical history of any significant illnesses in her biological family.

      What can be said about her situation?

      Your Answer:

      Correct Answer: He will require 6-monthly medical examinations by a doctor

      Explanation:

      All children who are in long-term foster care must undergo a medical examination every six months. This is a legal requirement. It is important to note that once a child reaches the age of five, a yearly examination is sufficient. The Fostering Services 2002 Regulation 6 and Review of Children’s Cases Regulations 1991 state that the responsible authority must arrange for the child to receive a health assessment by a registered medical practitioner or registered nurse under the supervision of a registered medical practitioner. The assessment must be carried out at least once every six months before the child’s fifth birthday and at least once every twelve months after the child’s fifth birthday, unless the child refuses the assessment and is of sufficient understanding. It is important to follow these regulations to ensure the health and well-being of children in foster care.

      Foster care is a system in which children who cannot live with their birth families are placed with foster families who provide them with a safe and nurturing environment. According to Schedule 7 of the Children Act 1989, there is a limit of three foster children per family. Additionally, all children in long-term foster care require a medical examination every six months to ensure their physical and emotional well-being. This system aims to provide children with stability and support while their birth families work towards resolving any issues that led to their placement in foster care.

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  • Question 33 - A mother brings her daughter to an appointment with the Practice Nurse for...

    Incorrect

    • A mother brings her daughter to an appointment with the Practice Nurse for her routine 4-month immunisations, which includes the new Meningitis B vaccine, introduced in 2015. What guidance should be provided regarding post-vaccination care at home?

      Your Answer:

      Correct Answer: Give paracetamol post-vaccination

      Explanation:

      It is common for individuals to experience a fever of over 38 degrees after receiving the Meningitis B vaccine. To prevent this from occurring, it is recommended that infants receive three doses of paracetamol, with the first dose administered immediately after vaccination. If necessary, parents should continue to administer paracetamol every 4-6 hours for up to 48 hours after vaccination. It is believed that the use of paracetamol doesn’t affect the effectiveness of the vaccine.

      Meningitis B Vaccine Now Part of Routine NHS Immunisation

      Children in the UK have been receiving immunisation against meningococcus serotypes A and C for many years. However, this led to meningococcal B becoming the most common cause of bacterial meningitis in the country. To address this, a vaccine against meningococcal B called Bexsero was developed and introduced to the UK market.

      Initially, the Joint Committee on Vaccination and Immunisation (JCVI) rejected the use of Bexsero after conducting a cost-benefit analysis. However, this decision was eventually reversed, and meningitis B has now been added to the routine NHS immunisation. Children will receive three doses of the vaccine at 2 months, 4 months, and 12-13 months.

      Moreover, Bexsero will also be available on the NHS for patients at high risk of meningococcal disease, such as those with asplenia, splenic dysfunction, or complement disorder. With the inclusion of meningitis B vaccine in the routine NHS immunisation, the UK hopes to reduce the incidence of bacterial meningitis and protect more children and high-risk patients from the disease.

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  • Question 34 - A 4-year-old girl is brought to an evening surgery after swallowing a battery...

    Incorrect

    • A 4-year-old girl is brought to an evening surgery after swallowing a battery from a watch. On examination, she is well, with no drooling, respiratory symptoms or abdominal tenderness.
      What is the most appropriate management option?

      Your Answer:

      Correct Answer: Arrange immediate admission for investigation and possible endoscopy

      Explanation:

      The Dangers of Swallowing Button Batteries: Why Immediate Action is Necessary

      Button batteries are small, but they can cause serious harm if swallowed. These batteries contain metals and concentrated solutions of caustic electrolytes, which can damage the oesophageal wall if left stuck for even just two hours. Therefore, it is essential to arrange immediate admission for investigation and possible endoscopy if a child has swallowed a button battery.

      Prescribing laxatives and taking no further action is not appropriate for a high-risk foreign body like a button battery. Similarly, asking the mother to collect all stools and return in 48 hours if the battery doesn’t pass is not recommended. Instead, it may be appropriate to observe asymptomatic children for the passage of the battery in the stool, but only if certain conditions are met.

      Reassuring the mother that no action is necessary is also not appropriate, as symptoms may still develop even if the child is asymptomatic. Referring for an abdominal X-ray on the next day is also not recommended, as urgent chest and abdominal X-rays will be carried out in the hospital.

      In conclusion, immediate action is necessary when a child swallows a button battery. Delaying treatment can lead to serious harm, and it is important to seek medical attention as soon as possible.

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  • Question 35 - A 9-month-old baby presents with a brief history of cough and difficulty breathing....

    Incorrect

    • A 9-month-old baby presents with a brief history of cough and difficulty breathing. During the examination, the infant has a temperature of 38.6°C and a respiratory rate of 37. The baby appears distressed, and there are widespread crackles and wheezing sounds when listening to the chest. The pulse rate is 170 BPM. What is the most probable diagnosis?

      Your Answer:

      Correct Answer: Bronchiolitis

      Explanation:

      Acute Bronchiolitis in Children

      This child is experiencing acute bronchiolitis and needs to be admitted to the hospital for supportive care. Ribavirin may also be necessary. The child is showing clear signs of respiratory distress. The most common cause of acute bronchiolitis is respiratory syncytial virus, but adenoviruses and parainfluenza viruses can also be responsible.

      Acute bronchiolitis is a common respiratory illness in young children, especially those under the age of two. It is characterized by inflammation and narrowing of the small airways in the lungs, making it difficult for the child to breathe. Symptoms include coughing, wheezing, and shortness of breath. Treatment typically involves supportive care, such as oxygen therapy and fluids, and may also include antiviral medications like ribavirin.

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  • Question 36 - Rohan is a 9-month-old baby who is brought in by his dad. He...

    Incorrect

    • Rohan is a 9-month-old baby who is brought in by his dad. He has developed an eczema type rash on his body and has more loose stools. His dad noticed these changes after he started weaning. Prior to this he was exclusively breastfed. On examination he is well, except for mild eczema. You suspect a diagnosis of cow's milk protein allergy.

      Which of the following milks could Rohan also be intolerant of?

      Your Answer:

      Correct Answer: Soya milk

      Explanation:

      Babies with cow’s milk protein allergy may also have an intolerance to soya milk. The primary milk alternatives used for such babies are extensively hydrolysed formula and alpha amino acid formula. Oat and almond milk are not advised for babies with this allergy, although there is no evidence of any adverse reactions to them.

      Cow’s milk protein intolerance/allergy (CMPI/CMPA) is a condition that affects approximately 3-6% of children and typically presents in formula-fed infants within the first 3 months of life. However, it can also occur in exclusively breastfed infants, although this is rare. Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions can occur, with CMPA usually used to describe immediate reactions and CMPI for mild-moderate delayed reactions. Symptoms of CMPI/CMPA include regurgitation and vomiting, diarrhea, urticaria, atopic eczema, colic symptoms such as irritability and crying, wheezing, chronic cough, and rarely, angioedema and anaphylaxis.

      Diagnosis of CMPI/CMPA is often based on clinical presentation, such as improvement with cow’s milk protein elimination. However, investigations such as skin prick/patch testing and total IgE and specific IgE (RAST) for cow’s milk protein may also be performed. If symptoms are severe, such as failure to thrive, referral to a pediatrician is necessary.

      Management of CMPI/CMPA depends on whether the child is formula-fed or breastfed. For formula-fed infants with mild-moderate symptoms, extensively hydrolyzed formula (eHF) milk is the first-line replacement formula, while amino acid-based formula (AAF) is used for infants with severe CMPA or if there is no response to eHF. Around 10% of infants with CMPI/CMPA are also intolerant to soy milk. For breastfed infants, mothers should continue breastfeeding while eliminating cow’s milk protein from their diet. Calcium supplements may be prescribed to prevent deficiency while excluding dairy from the diet. When breastfeeding stops, eHF milk should be used until the child is at least 12 months old and for at least 6 months.

      The prognosis for CMPI/CMPA is generally good, with most children eventually becoming milk tolerant. In children with IgE-mediated intolerance, around 55% will be milk tolerant by the age of 5 years, while in children with non-IgE mediated intolerance, most will be milk tolerant by the age of 3 years. However, a challenge is often performed in a hospital setting as anaphylaxis can occur.

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  • Question 37 - A 35-year-old woman comes in for her 6 week postpartum check after giving...

    Incorrect

    • A 35-year-old woman comes in for her 6 week postpartum check after giving birth to a baby with Down's syndrome. Genetic testing confirmed non-disjunction as the cause of the trisomy. The patient is curious about the likelihood of having another child with Down's syndrome in the future. What is the probability of this occurring?

      Your Answer:

      Correct Answer: 1 in 100

      Explanation:

      The recurrence rate of Down’s syndrome is typically 1 in 100.

      Down’s Syndrome: Epidemiology and Genetics

      Down’s syndrome is a genetic disorder that is caused by the presence of an extra copy of chromosome 21. The risk of having a child with Down’s syndrome increases with maternal age, with a 1 in 1,500 chance at age 20 and a 1 in 50 or greater chance at age 45. This can be remembered by dividing the denominator by 3 for every extra 5 years of age starting at 1/1,000 at age 30.

      There are three main types of Down’s syndrome: nondisjunction, Robertsonian translocation, and mosaicism. Nondisjunction accounts for 94% of cases and occurs when the chromosomes fail to separate properly during cell division. Robertsonian translocation, which usually involves chromosome 14, accounts for 5% of cases and occurs when a piece of chromosome 21 attaches to another chromosome. Mosaicism, which accounts for 1% of cases, occurs when there are two genetically different populations of cells in the body.

      The risk of recurrence for Down’s syndrome varies depending on the type of genetic abnormality. If the trisomy 21 is a result of nondisjunction, the chance of having another child with Down’s syndrome is approximately 1 in 100 if the mother is less than 35 years old. If the trisomy 21 is a result of Robertsonian translocation, the risk is much higher, with a 10-15% chance if the mother is a carrier and a 2.5% chance if the father is a carrier.

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  • Question 38 - A 8-month-old girl presents to her General Practitioner with her mother with a...

    Incorrect

    • A 8-month-old girl presents to her General Practitioner with her mother with a runny nose, mild fever and a barking cough. Symptoms have been present for 24 hours. An inspiratory stridor can be heard when the child is crying, but not when she is calm. On examination, there is mild intercostal recession, but air entry is normal.
      Which of the following is the most appropriate management?

      Your Answer:

      Correct Answer: Dexamethasone

      Explanation:

      Medications for Croup: Understanding Their Uses and Limitations

      Croup is a common respiratory illness in children, characterized by a barking cough and inspiratory stridor. While it is usually caused by a viral infection, treatment with medications can help alleviate symptoms and prevent complications. Here is a breakdown of some commonly used medications for croup and their uses:

      Dexamethasone: This steroid medication is recommended for all children with mild to moderate croup. It helps reduce inflammation in the airways and can improve symptoms within hours.

      Amoxicillin: While croup is usually caused by a virus, bacterial infections can sometimes complicate the illness. Amoxicillin is an antibiotic that can be used to treat bacterial infections in children with croup.

      Cetirizine: This antihistamine medication is not recommended for children with croup, as it is used to relieve allergy symptoms and has no effect on the underlying cause of croup.

      Salbutamol: This medication is used to treat asthma and other respiratory conditions, but is not typically used for croup.

      Simple linctus: This cough syrup contains citric acid and is sometimes used as a demulcent to soothe the throat. However, its effectiveness in reducing cough frequency is limited.

      It is important to note that medications should only be used under the guidance of a healthcare professional, and that treatment for croup may vary depending on the severity of the illness and the individual needs of the child.

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  • Question 39 - A 6-month-old child is brought to see you with a nappy rash.

    On examination,...

    Incorrect

    • A 6-month-old child is brought to see you with a nappy rash.

      On examination, the baby has a well defined erythematous rash around the perianal skin and in the skin creases. A few satellite lesions are also noted. The child is otherwise well but has a coated, white tongue.

      What treatment should be prescribed for the nappy rash?

      Your Answer:

      Correct Answer: Zinc and castor oil ointment

      Explanation:

      Understanding Candidal Nappy Rash

      Nappy rash is a common problem that affects babies and young children. It is important to identify the underlying cause of the rash to ensure accurate treatment. In the case of candidal nappy rash, the rash is caused by a candidal infection. This type of rash is characterized by well-defined, marginated erythema and the presence of satellite lesions. Papules and pustules may also be present. If the child has oral candidiasis, the chances of developing candidal nappy rash are increased. Understanding the symptoms and causes of candidal nappy rash can help parents and caregivers provide appropriate treatment and prevent further discomfort for the child.

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  • Question 40 - A concerned mother of a toddler attends your clinic seeking advice on how...

    Incorrect

    • A concerned mother of a toddler attends your clinic seeking advice on how to reduce the risk of accidents in her child.

      Which of the following pieces of advice is supported by the best evidence?

      Your Answer:

      Correct Answer: Avoid soft mattresses

      Explanation:

      Best Evidence for Reducing the Risk of SIDS

      Cot death, also known as Sudden Infant Death Syndrome (SIDS), is a rare but devastating occurrence that affects approximately 1 in 1500 babies per year. It is more common in male infants and during the winter months. While there are several risk factors for SIDS, including multiple pregnancies, low birth weight, and lower social class, the best evidence suggests that avoiding prone sleeping is the most effective intervention.

      Other interventions that have been suggested to reduce the risk of SIDS include using a dummy (pacifier) and ensuring a smoke-free environment. However, the evidence for these interventions is not as strong as the evidence for avoiding prone sleeping.

      It is important for parents and caregivers to be aware of the risk factors for SIDS and to take steps to reduce the risk. By following the best available evidence, we can help to prevent this tragic and heartbreaking event from occurring.

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  • Question 41 - A 2-week-old girl has her hearing checked through the Newborn Hearing Screening program....

    Incorrect

    • A 2-week-old girl has her hearing checked through the Newborn Hearing Screening program. She had a normal delivery at 40 weeks and was discharged home with her parents. The hearing screening was abnormal and a follow-up test is required to confirm.

      What is the follow-up test needed in this case?

      Your Answer:

      Correct Answer: Auditory brainstem response test

      Explanation:

      If a baby is found to have an abnormal hearing test at birth, they will be offered an auditory brainstem response test as a follow-up. This test involves placing electrodes on the scalp to measure auditory evoked potentials after sounds are played, and can indicate reduced hearing ability if there is no response.

      It is not appropriate to use a distraction test on a newborn, as they are not yet developed enough for this type of testing. This test is typically used for toddlers aged 6-9 months, and requires two staff members to assess the loudness required for the baby to react to sounds produced out of their field of view.

      Newborn otoacoustic emission testing is the initial screening assessment for hearing loss, but further investigations are needed to confirm the diagnosis. This test involves generating a click sound through an earpiece and measuring for the presence of a soft echo that indicates a healthy cochlea.

      Pure tone audiometry is not an appropriate second-line hearing investigation for newborns, as it requires the input of the participant when they hear specific sounds and is typically used in school-aged children.

      Hearing Tests for Children

      Hearing tests are important for children to ensure that they are developing normally. There are several tests that may be performed on children of different ages. For newborns, an otoacoustic emission test is typically done as part of the Newborn Hearing Screening Programme. This test involves playing a computer-generated click through a small earpiece and checking for the presence of a soft echo, which indicates a healthy cochlea. If the results of this test are abnormal, an Auditory Brainstem Response test may be done.

      For infants between 6-9 months, a Distraction test may be performed by a health visitor with the help of two trained staff members. For children between 18 months to 2.5 years, a Recognition of familiar objects test may be used, which involves using familiar objects like a teddy or cup and asking the child simple questions like where is the teddy? For children over 2.5 years, Performance testing and Speech discrimination tests using similar-sounding objects like the Kendall Toy test or McCormick Toy Test may be used. Pure tone audiometry is typically done at school entry in most areas of the UK for children over 3 years old.

      In addition to these tests, there is also a questionnaire for parents in the Personal Child Health Records called Can your baby hear you? This questionnaire can help identify any potential hearing issues in children. Overall, hearing tests are an important part of ensuring that children are developing normally and can help identify any issues early on.

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  • Question 42 - A toddler has had a seizure. He has been unwell for a few...

    Incorrect

    • A toddler has had a seizure. He has been unwell for a few hours and has a temperature of 38.2°C. There are no concerning features in his previous medical history.
      Which of the following is most compatible with a diagnosis of ‘simple febrile seizure’?

      Your Answer:

      Correct Answer: Age of child 18 months

      Explanation:

      Febrile seizures are most common in children between 6 months and 6 years old, with the highest incidence at 18 months. They are associated with fever and affect 2-4% of European children. While tonic-clonic movements are typical during febrile seizures, complex febrile seizures may present with focal or myoclonic features. If a seizure lasts longer than 15 minutes, it is considered complex and may require hospitalization. Signs of meningeal irritation, such as neck stiffness and Kernig’s sign, suggest a possible CNS infection and require further evaluation. Recurrence of seizures within 24 hours or during the same illness may indicate a complex febrile seizure.

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  • Question 43 - Sophie is a 6-year-old girl who comes to see the GP with her...

    Incorrect

    • Sophie is a 6-year-old girl who comes to see the GP with her mother. Her mother has observed that the labia seem to be joined together in one spot. She is urinating normally and growing and developing typically in all other aspects. What guidance would you offer?

      Your Answer:

      Correct Answer: Reassure as likely to resolve spontaneously

      Explanation:

      Gemma has been diagnosed with labial adhesion, which typically resolves on its own without the need for treatment unless there are issues with urination. If urination problems arise, a topical oestrogen cream may be used. Since Gemma is not experiencing any urination problems, no treatment is necessary, and her symptoms are expected to resolve naturally. There is no need to refer her to social services as labial adhesions do not necessarily indicate safeguarding concerns, and there is no other information in her medical history to suggest such concerns. Additionally, genetic testing or a referral to a paediatric surgeon is not necessary as this condition is common and usually resolves on its own.

      Labial Adhesions: Causes, Symptoms, and Treatment

      Labial adhesions refer to the fusion of the labia minora in the middle, which is commonly observed in girls aged between 3 months and 3 years. This condition can be treated conservatively, and spontaneous resolution usually occurs around puberty. It is important to note that labial adhesions are different from an imperforate hymen.

      Symptoms of labial adhesions include problems with urination, such as pooling in the vagina. Upon examination, thin semitranslucent adhesions covering the vaginal opening between the labia minora may be seen, which can sometimes cover the vaginal opening completely.

      Conservative management is usually appropriate for most cases of labial adhesions. However, if there are associated problems such as recurrent urinary tract infections, oestrogen cream may be tried. If this fails, surgical intervention may be necessary.

      In summary, labial adhesions are a common condition in young girls that can cause problems with urination. While conservative management is usually effective, medical intervention may be necessary in some cases.

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  • Question 44 - What could be the cause of stridor in a 6-month-old infant? ...

    Incorrect

    • What could be the cause of stridor in a 6-month-old infant?

      Your Answer:

      Correct Answer: Laryngomalacia

      Explanation:

      Causes of Stridor: An Overview

      Stridor is a high-pitched, wheezing sound that occurs during breathing and is often a sign of an underlying respiratory problem. One common cause of stridor is laryngomalacia, a congenital condition that results in flaccidity of supraglottic structures. This condition may not present until the child is a few months old.

      It is important to note that stridor doesn’t occur in bronchiolitis, asthma, or reflux. In the UK, viral croup is the most common cause of stridor in general practice, while epiglottitis is a much rarer cause that can produce severe stridor with distress and cyanosis very quickly. Structural abnormalities such as micrognathia and trachea-oesophageal fistula can also cause stridor.

      It is worth noting that stridor doesn’t occur with pertussis but used to be seen with diphtheria. Other causes of stridor include smoke inhalation, angio-oedema, and foreign body. Understanding the various causes of stridor is crucial for prompt diagnosis and treatment.

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  • Question 45 - A 4-year-old girl presents as febrile. On examination, there are no focal symptoms...

    Incorrect

    • A 4-year-old girl presents as febrile. On examination, there are no focal symptoms to suggest the site of an infection.
      According to NICE guidelines, which of the following is most appropriate in regards for the need for urgent admission to hospital?

      Your Answer:

      Correct Answer: Continuous cry

      Explanation:

      Assessing Febrile Children: Understanding Risk Signs

      When assessing a febrile child, it is important to understand the different risk signs and their implications. According to National Institute for Health and Care Excellence guidelines, a continuous cry or a weak/high-pitched cry is a red, high-risk sign. On the other hand, a drowsy child who awakens quickly is a green, low-risk sign, while a child who requires prolonged stimulation to wake up is an amber, intermediate-risk sign. Similarly, decreased activity and partial response to social cues are also amber signs. It is important to provide parents and/or carers with a safety net or refer to a specialist for further assessment in such cases. Failure to respond at all to social cues or appearing ill enough to worry the doctor are red, high-risk signs that may require hospital admission. Understanding these risk signs can help healthcare providers make informed decisions and provide appropriate care for febrile children.

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  • Question 46 - You are working in a Saturday morning clinic and a mother brings in...

    Incorrect

    • You are working in a Saturday morning clinic and a mother brings in her 10-year-old daughter who has developed new pustular, honey-coloured crusted lesions over her chin. She is otherwise healthy with normal vital signs and no evidence of lymphadenopathy on examination. She has no known allergies to any medications and is usually in good health.

      You diagnose localised non-bullous impetigo.

      The daughter is scheduled to go on a field trip to the zoo the next day and is very excited about it. The mother asks if it is safe for her daughter to go on the field trip.

      What is your plan for managing this situation?

      Your Answer:

      Correct Answer: Prescribe topical hydrogen peroxide 1% cream and advise them that the child should be excluded from school until the lesions are crusted and healed

      Explanation:

      Referral or admission is not necessary for this straightforward primary care case, even if there is suspicion or confirmation of fusidic acid resistance. However, prescribing topical antibiotics is an option. It is important to advise the patient that he cannot attend school or go on his school trip until 48 hours after starting antibiotic treatment or until the lesions have crusted and healed.

      The Health Protection Agency has provided guidance on when children should be excluded from school due to infectious conditions. Some conditions, such as conjunctivitis, fifth disease, roseola, infectious mononucleosis, head lice, threadworms, and hand, foot and mouth, do not require exclusion. Scarlet fever requires exclusion for 24 hours after commencing antibiotics, while whooping cough requires exclusion for 2 days after commencing antibiotics or 21 days from onset of symptoms if no antibiotics are taken. Measles requires exclusion for 4 days from onset of rash, rubella for 5 days from onset of rash, and Chickenpox until all lesions are crusted over. Mumps requires exclusion for 5 days from onset of swollen glands, while diarrhoea and vomiting require exclusion until symptoms have settled for 48 hours. Impetigo requires exclusion until lesions are crusted and healed, or for 48 hours after commencing antibiotic treatment, and scabies requires exclusion until treated. influenza requires exclusion until the child has recovered for 48 hours.

      Regarding Chickenpox, Public Health England recommends that children should be excluded until all lesions are crusted over, while Clinical Knowledge Summaries suggest that infectivity continues until all lesions are dry and have crusted over, usually about 5 days after the onset of the rash. It is important to follow official guidance and consult with healthcare professionals if unsure about exclusion periods for infectious conditions.

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  • Question 47 - A 12-year-old boy is diagnosed with haemophilia A after being evaluated for a...

    Incorrect

    • A 12-year-old boy is diagnosed with haemophilia A after being evaluated for a haemarthrosis. Among his family members, who is the most probable to have the same condition?

      Your Answer:

      Correct Answer: Mother's brother

      Explanation:

      The answer is mother’s brother, as X-linked recessive conditions are exclusive to males and do not transmit from male to male.

      X-linked recessive inheritance affects only males, except in cases of Turner’s syndrome where females are affected due to having only one X chromosome. This type of inheritance is transmitted by carrier females, and male-to-male transmission is not observed. Affected males can only have unaffected sons and carrier daughters.

      If a female carrier has children, each male child has a 50% chance of being affected, while each female child has a 50% chance of being a carrier. It is rare for an affected father to have children with a heterozygous female carrier, but in some Afro-Caribbean communities, G6PD deficiency is relatively common, and homozygous females with clinical manifestations of the enzyme defect can be seen.

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  • Question 48 - A 10-year-old girl comes in for a follow-up appointment. She was diagnosed with...

    Incorrect

    • A 10-year-old girl comes in for a follow-up appointment. She was diagnosed with asthma two years ago by her primary care physician. She is currently taking a salbutamol inhaler, using 2 puffs 3 times a day, and a low-dose beclomethasone inhaler. She also takes oral montelukast. Despite this treatment, she still experiences a nighttime cough and needs to use her blue inhaler most days. Unfortunately, the addition of montelukast has not provided much relief. On examination today, her chest is clear with no wheezing and a near-normal peak flow.

      What is the next step in managing her asthma?

      Your Answer:

      Correct Answer: Stop montelukast and add salmeterol

      Explanation:

      For children between the ages of 5 and 16 with asthma that is not being effectively managed with a combination of a short-acting beta agonist (SABA), low-dose inhaled corticosteroids (ICS), and a leukotriene receptor antagonist, it is recommended to add a long-acting beta agonist (LABA) to the treatment plan and discontinue the use of the leukotriene receptor antagonist.

      Managing Asthma in Children: NICE Guidelines

      The National Institute for Health and Care Excellence (NICE) released guidelines in 2017 for the management of asthma in children aged 5-16. These guidelines follow a stepwise approach, with treatment options based on the severity of the child’s symptoms. For newly-diagnosed asthma, short-acting beta agonists (SABA) are recommended. If symptoms persist or worsen, a combination of SABA and paediatric low-dose inhaled corticosteroids (ICS) may be used. Leukotriene receptor antagonists (LTRA) and long-acting beta agonists (LABA) may also be added to the treatment plan.

      For children under 5 years old, clinical judgement plays a greater role in diagnosis and treatment. The stepwise approach for this age group includes an 8-week trial of paediatric moderate-dose ICS for newly-diagnosed asthma or uncontrolled symptoms. If symptoms persist, a combination of SABA and paediatric low-dose ICS with LTRA may be used. If symptoms still persist, referral to a paediatric asthma specialist is recommended.

      It is important to note that NICE doesn’t recommend changing treatment for patients with well-controlled asthma simply to adhere to the latest guidelines. Additionally, maintenance and reliever therapy (MART) may be used for combined ICS and LABA treatment, but only for LABAs with a fast-acting component. The definitions for low, moderate, and high-dose ICS have also changed, with different definitions for children and adults.

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  • Question 49 - In the case of diaper rash in an infant, what skin care advice...

    Incorrect

    • In the case of diaper rash in an infant, what skin care advice would be suitable to provide?

      Your Answer:

      Correct Answer: Bath the child daily

      Explanation:

      To prevent nappy rash, it is recommended to leave the nappies off for as long as possible and use water or fragrance-free and alcohol-free baby wipes for cleaning. After cleaning, it is important to dry the area gently without rubbing vigorously. Bathing the child daily is also recommended, but excessive bathing (more than twice a day) should be avoided as it may dry out the skin. It is advised not to use soap, bubble bath, or lotions. Additionally, using nappies with high absorbency, such as disposable gel matrix nappies, and changing the child as soon as possible after wetting or soiling can also help prevent nappy rash.

      Understanding Napkin Rashes and How to Manage Them

      Napkin rashes, also known as nappy rashes, are common skin irritations that affect babies and young children. The most common cause of napkin rash is irritant dermatitis, which is caused by the irritant effect of urinary ammonia and faeces. This type of rash typically spares the creases. Other causes of napkin rash include candida dermatitis, seborrhoeic dermatitis, psoriasis, and atopic eczema.

      To manage napkin rash, it is recommended to use disposable nappies instead of towel nappies and to expose the napkin area to air when possible. Applying a barrier cream, such as Zinc and castor oil, can also help. In severe cases, a mild steroid cream like 1% hydrocortisone may be necessary. If the rash is suspected to be candidal nappy rash, a topical imidazole should be used instead of a barrier cream until the candida has settled.

      It is important to note that napkin rash can be uncomfortable for babies and young children, so it is essential to manage it promptly. By following these general management points, parents and caregivers can help prevent and manage napkin rashes effectively.

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  • Question 50 - You see a 3-year-old girl who you suspect has asthma. She has a...

    Incorrect

    • You see a 3-year-old girl who you suspect has asthma. She has a moderate response to an inhaled short-acting beta-2-agonist (SABA) but you are planning to trial an inhaled corticosteroid to see if her control can be improved.

      How long should a trial of inhaled corticosteroid be for a child under three years of age with suspected asthma?

      Your Answer:

      Correct Answer: 2 weeks

      Explanation:

      NICE Guidelines for Children Under Five with Suspected Asthma

      For children under the age of five with suspected asthma, NICE recommends an eight week trial of a moderate dose of inhaled corticosteroid (ICS) if there are symptoms that clearly indicate the need for maintenance therapy. These symptoms include occurring three times a week or more, causing waking at night, or being uncontrolled with a short-acting beta-agonist (SABA) alone.

      After the eight week trial, the ICS treatment should be stopped and the child’s symptoms monitored. If the symptoms did not resolve during the trial period, an alternative diagnosis should be considered. If the symptoms resolved but reoccurred within four weeks of stopping the ICS treatment, the ICS should be restarted at a low dose as first-line maintenance therapy. If the symptoms resolved but reoccurred beyond four weeks after stopping the ICS treatment, another eight week trial of a moderate dose of ICS should be repeated.

      It is important to follow these guidelines to ensure proper management of asthma in young children.

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SESSION STATS - PERFORMANCE PER SPECIALTY

Children And Young People (2/3) 67%
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