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  • Question 1 - A 2-year-old boy is admitted to the ward with difficulty breathing. His mother...

    Correct

    • A 2-year-old boy is admitted to the ward with difficulty breathing. His mother reports a 3-day illness with cough and cold symptoms, low-grade fever and increasing difficulty breathing this morning. He has had no similar episodes. The family are all non-smokers and there is no history of atopy. His immunisations are up-to-date and he is otherwise growing and developing normally.
      In the Emergency Department, he was given burst therapy and is now on one-hourly salbutamol inhalers. On examination, he is alert and playing. Heart rate (HR) 150 bpm, respiratory rate (RR) 40 breaths per minute, oxygen saturation 94% on air. There is mild subcostal recession, and his chest shows good air entry bilaterally, with mild wheeze throughout.
      What is the most appropriate next step in management?

      Your Answer: Stretch to 2-hourly salbutamol and add 10 mg soluble prednisone for 3 days

      Explanation:

      Management of Viral-Induced Wheeze in Children: Treatment Options and Considerations

      Viral-induced wheeze is a common presentation of wheeze in preschool children, typically associated with a viral infection. Inhaled b2 agonists are the first line of treatment, given hourly during acute episodes. However, for children with mild symptoms and maintaining saturations above 92%, reducing the frequency of salbutamol to 2-hourly and gradually weaning off may be appropriate. Steroid tablet therapy is recommended for use in hospital settings and early management of asthma symptoms in this age group. It is important to establish a personal and family history of atopy, as a wheeze is more likely to be induced by asthma if it occurs when the child is otherwise well. Oxygen via nasal cannulae is not necessary for mild symptoms. Prednisolone may be added for 3 days with a strong history of atopy, while montelukast is given for 5 days to settle inflammation in children without atopy. Atrovent® nebulisers are not typically used in the treatment of viral-induced wheeze but may be useful in children with atopy history where salbutamol fails to reduce symptoms.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 2 - You assess a 6-year-old girl with cerebral palsy who is experiencing persistent spasticity...

    Incorrect

    • You assess a 6-year-old girl with cerebral palsy who is experiencing persistent spasticity in her legs resulting in contractures and pain. After discussing with her mother, you discover that she is receiving regular physiotherapy, utilizing appropriate orthoses, and has previously attempted oral diazepam. What treatment option could be presented to potentially enhance her symptoms?

      Your Answer: Dantrolene

      Correct Answer: Baclofen

      Explanation:

      Understanding Cerebral Palsy

      Cerebral palsy is a condition that affects movement and posture due to damage to the motor pathways in the developing brain. It is the most common cause of major motor impairment and affects 2 in 1,000 live births. The causes of cerebral palsy can be antenatal, intrapartum, or postnatal. Antenatal causes include cerebral malformation and congenital infections such as rubella, toxoplasmosis, and CMV. Intrapartum causes include birth asphyxia or trauma, while postnatal causes include intraventricular hemorrhage, meningitis, and head trauma.

      Children with cerebral palsy may exhibit abnormal tone in early infancy, delayed motor milestones, abnormal gait, and feeding difficulties. They may also have associated non-motor problems such as learning difficulties, epilepsy, squints, and hearing impairment. Cerebral palsy can be classified into spastic, dyskinetic, ataxic, or mixed types.

      Managing cerebral palsy requires a multidisciplinary approach. Treatments for spasticity include oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopedic surgery, and selective dorsal rhizotomy. Anticonvulsants and analgesia may also be required. Understanding cerebral palsy and its management is crucial in providing appropriate care and support for individuals with this condition.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 3 - A father brings his 10-month-old daughter to the emergency department due to a...

    Incorrect

    • A father brings his 10-month-old daughter to the emergency department due to a rash that has developed. Upon further inquiry, the father explains that the rash started behind her ears two days ago and has since spread. Prior to the rash, the baby had a fever and cough. Although she is up to date with her vaccinations, the father has not yet scheduled her next appointment. During the examination, the baby appears irritable, has white spots in her mouth, and inflamed eyes. What is the most likely diagnosis, and what is the potential risk for the baby?

      Your Answer: Orchitis

      Correct Answer: Otitis media

      Explanation:

      Otitis media is the most frequent complication that arises from measles, which typically presents with an initial prodrome of cough, coryza, and the appearance of white spots on the buccal mucosa known as koplik spots. The rash usually emerges between day 3 and 5, starting behind the ears and spreading down the body.

      Measles: A Highly Infectious Viral Disease

      Measles is a viral disease caused by an RNA paramyxovirus. It is one of the most infectious known viruses and is spread through aerosol transmission. The disease has an incubation period of 10-14 days and is infective from the prodromal phase until four days after the rash starts. Measles is now rare in developed countries due to immunization programs, but outbreaks can occur when vaccination rates drop, such as during the MMR controversy of the early 2000s.

      The disease is characterized by a prodromal phase, which includes irritability, conjunctivitis, fever, and Koplik spots. The latter typically develop before the rash and are white spots on the buccal mucosa. The rash starts behind the ears and then spreads to the whole body, becoming a discrete maculopapular rash that may become blotchy and confluent. Desquamation may occur after a week, typically sparing the palms and soles. Diarrhea occurs in around 10% of patients.

      Measles is mainly managed through supportive care, and admission may be considered in immunosuppressed or pregnant patients. The disease is notifiable, and public health should be informed. Complications of measles include otitis media, pneumonia (the most common cause of death), encephalitis (typically occurring 1-2 weeks following the onset of the illness), subacute sclerosing panencephalitis (very rare, may present 5-10 years following the illness), febrile convulsions, keratoconjunctivitis, corneal ulceration, diarrhea, increased incidence of appendicitis, and myocarditis.

      If an unimmunized child comes into contact with measles, MMR should be offered within 72 hours. Vaccine-induced measles antibody develops more rapidly than that following natural infection.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 4 - A 2-year-old girl presents with bilious vomiting, abdominal distension and has been constipated...

    Incorrect

    • A 2-year-old girl presents with bilious vomiting, abdominal distension and has been constipated since birth and did not pass meconium until she was 3 days old. Height and weight are at the fifth percentile. On examination, the abdomen is distended and a PR examination causes stool ejection. What is the probable diagnosis?

      Your Answer: Intussusception

      Correct Answer: Hirschsprung disease

      Explanation:

      Hirschsprung disease is a bowel disease that is present at birth and is more common in boys than girls, occurring five times more frequently. The typical symptoms include vomiting of bile, swelling of the abdomen, difficulty passing stool, and failure to pass meconium within the first two days of life. However, in some cases, the disease may not become apparent until later in childhood or adolescence. A colon biopsy is used to diagnose the condition, which reveals a segment of bowel that lacks nerve cells.

      Understanding Hirschsprung’s Disease

      Hirschsprung’s disease is a rare condition that affects 1 in 5,000 births. It is caused by a developmental failure of the parasympathetic Auerbach and Meissner plexuses, resulting in an aganglionic segment of bowel. This leads to uncoordinated peristalsis and functional obstruction, which can present as constipation and abdominal distension in older children or failure to pass meconium in the neonatal period.

      Hirschsprung’s disease is three times more common in males and is associated with Down’s syndrome. Diagnosis is made through a rectal biopsy, which is considered the gold standard. Treatment involves initial rectal washouts or bowel irrigation, followed by surgery to remove the affected segment of the colon.

      In summary, Hirschsprung’s disease is a rare condition that can cause significant gastrointestinal symptoms. It is important to consider this condition as a differential diagnosis in childhood constipation, especially in male patients or those with Down’s syndrome. Early diagnosis and treatment can improve outcomes and prevent complications.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 5 - A 4-day-old male infant is presenting with progressive abdominal distension. He has not...

    Incorrect

    • A 4-day-old male infant is presenting with progressive abdominal distension. He has not had a bowel movement since birth. Digital rectal examination results in the expulsion of explosive feces. No additional information is obtained from abdominal examination or blood tests.

      What is the conclusive measure for diagnosis?

      Your Answer: Contrast-enhanced CT scan of the abdomen and pelvis

      Correct Answer: Suction-assisted full-thickness rectal biopsies

      Explanation:

      Diagnostic Procedures for Hirschsprung’s Disease

      Hirschsprung’s disease is a rare condition that causes functional intestinal obstruction due to the absence of ganglion cells in the distal colon. Diagnosis of this condition requires specific diagnostic procedures. One such procedure is suction-assisted full-thickness rectal biopsies, which demonstrate the lack of ganglion cells in Auerbach’s plexus. Other diagnostic procedures, such as contrast-enhanced CT scans, ultrasound of the hernial orifices, upper GI fluoroscopy studies, and sigmoidoscopy with rectal mucosal biopsies, are not as effective in diagnosing Hirschsprung’s disease. It is important to accurately diagnose this condition to ensure appropriate treatment and management.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 6 - Beta-human chorionic gonadotrophin (beta-hCG) and alfa-fetoprotein (AFP) ...

    Correct

    • Beta-human chorionic gonadotrophin (beta-hCG) and alfa-fetoprotein (AFP)

      Your Answer: Biliary atresia

      Explanation:

      Biliary atresia is a condition that usually manifests within the first few weeks of a newborn’s life, characterized by jaundice, poor appetite, and growth issues. It is a common cause of prolonged neonatal jaundice that appears after two weeks. Other symptoms include an enlarged liver and spleen, abnormal growth, and heart murmurs if there are associated cardiac abnormalities. Conjugated bilirubin levels are abnormally high, while bile acids and aminotransferases are also typically elevated, but cannot be used to distinguish between biliary atresia and other causes of neonatal cholestasis. Although bile duct stenosis may present similarly, it is less frequent.

      Understanding Biliary Atresia in Neonatal Children

      Biliary atresia is a condition that affects the extrahepatic biliary system in neonatal children, resulting in an obstruction in the flow of bile. This condition is more common in females than males and occurs in 1 in every 10,000-15,000 live births. There are three types of biliary atresia, with type 3 being the most common. Patients typically present with jaundice, dark urine, pale stools, and abnormal growth.

      To diagnose biliary atresia, doctors may perform various tests, including serum bilirubin, liver function tests, serum alpha 1-antitrypsin, sweat chloride test, and ultrasound of the biliary tree and liver. Surgical intervention is the only definitive treatment for biliary atresia, and medical intervention includes antibiotic coverage and bile acid enhancers following surgery.

      Complications of biliary atresia include unsuccessful anastomosis formation, progressive liver disease, cirrhosis, and eventual hepatocellular carcinoma. However, the prognosis is good if surgery is successful. In cases where surgery fails, liver transplantation may be required in the first two years of life. Overall, understanding biliary atresia is crucial for early diagnosis and effective management in neonatal children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 7 - A 12-year-old female presents to her GP complaining of fatigue, weight loss, frequent...

    Incorrect

    • A 12-year-old female presents to her GP complaining of fatigue, weight loss, frequent urination, and excessive thirst. Her random plasma glucose level is 15 mmol/litre. The patient has a pre-existing condition since childhood that may be responsible for these symptoms. What is the most probable underlying condition?

      Your Answer: Congenital adrenal hyperplasia

      Correct Answer: Cystic fibrosis

      Explanation:

      The onset of diabetes in a young person, as described in this presentation, is a classic symptom and has been confirmed by a random blood glucose level of >11 mmol/L. Among the given options, only cystic fibrosis has the potential to cause the development of diabetes. Cystic fibrosis typically manifests in childhood with respiratory symptoms, but as the disease progresses, other symptoms may appear. If the pancreas is affected, it can lead to the development of diabetes mellitus. However, it may take some time for the pancreas to be affected enough to cause diabetes, which is why children with cystic fibrosis may develop diabetes later in life. While the other conditions listed may cause fatigue or weight loss, they do not typically result in polyuria or polydipsia.

      Cystic Fibrosis: Symptoms and Characteristics

      Cystic fibrosis is a genetic disorder that affects various organs in the body, particularly the lungs and digestive system. The symptoms of cystic fibrosis can vary from person to person, but there are some common features that are often present. In the neonatal period, around 20% of infants with cystic fibrosis may experience meconium ileus, which is a blockage in the intestine caused by thick, sticky mucous. Prolonged jaundice may also occur, but less commonly. Recurrent chest infections are a common symptom, affecting around 40% of patients. Malabsorption is another common feature, with around 30% of patients experiencing steatorrhoea (excessive fat in the stool) and failure to thrive. Liver disease may also occur in around 10% of patients.

      It is important to note that while many patients are diagnosed with cystic fibrosis during newborn screening or early childhood, around 5% of patients are not diagnosed until after the age of 18. Other features of cystic fibrosis may include short stature, diabetes mellitus, delayed puberty, rectal prolapse (due to bulky stools), nasal polyps, male infertility, and female subfertility. Overall, the symptoms and characteristics of cystic fibrosis can vary widely, but early diagnosis and treatment can help manage the condition and improve quality of life.

    • This question is part of the following fields:

      • Paediatrics
      18
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  • Question 8 - You are a junior doctor in paediatrica and have been asked to perform...

    Incorrect

    • You are a junior doctor in paediatrica and have been asked to perform a newborn exam. Which statement is true regarding the Barlow and Ortolani manoeuvres?

      Your Answer: It tests for anterior dislocation of the hip

      Correct Answer: It relocates a dislocation of the hip joint if this has been elicited during the Barlow manoeuvre

      Explanation:

      Understanding the Barlow and Ortolani Manoeuvres for Hip Dislocation Screening

      Hip dislocation is a common problem in infants, and early detection is crucial for successful treatment. Two screening tests commonly used are the Barlow and Ortolani manoeuvres. The Barlow manoeuvre involves adducting the hip while applying pressure on the knee, while the Ortolani manoeuvre flexes the hips and knees to 90 degrees, with pressure applied to the greater trochanters and thumbs to abduct the legs. A positive test confirms hip dislocation, and further investigation is necessary if risk factors are present, such as breech delivery or a family history of hip problems. However, a negative test does not exclude all hip problems, and parents should seek medical advice if they notice any asymmetry or walking difficulties in their child.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 9 - A 6-year-old girl comes to the GP with a pink spotted rash on...

    Incorrect

    • A 6-year-old girl comes to the GP with a pink spotted rash on her torso that has spread to all her limbs. Her mother reports that she had a high fever for three days before the rash appeared, and that she seemed to be improving before that. The girl is now without a fever.

      During the examination, the GP observes a maculopapular red rash on the girl's trunk and limbs. All other aspects of the examination are normal, and her vital signs are stable.

      What is the probable diagnosis?

      Your Answer: Chicken pox

      Correct Answer: Roseola infantum

      Explanation:

      Roseola infantum begins with a high fever that disappears before the rash appears. The rash starts suddenly after the temperature drops and usually starts on the trunk before spreading to the limbs. It is a non-itchy maculopapular rash.

      Measles rash occurs with other systemic symptoms and usually starts on the face before spreading to other parts of the body. The characteristic ‘koplik spots’ are a classic sign of this illness.

      Chickenpox starts as a red, itchy papular rash that becomes vesicular and can appear anywhere on the body.

      Erythema multiforme is not caused by a virus but is a hypersensitivity reaction to herpes 7 virus. The macules are typically larger than other rashes and can progress to plaque-like lesions.

      Hand, foot, and mouth disease is caused by the Coxsackie A6 virus and is characterized by painful vesicular lesions on the palms, soles, and buccal mucosa.

      Understanding Roseola Infantum

      Roseola infantum, also known as exanthem subitum or sixth disease, is a common illness that affects infants and is caused by the human herpes virus 6 (HHV6). This disease has an incubation period of 5-15 days and is typically seen in children aged 6 months to 2 years. The most common symptoms of roseola infantum include a high fever that lasts for a few days, followed by a maculopapular rash. Other symptoms may include Nagayama spots, which are papular enanthems on the uvula and soft palate, as well as cough and diarrhea.

      In some cases, febrile convulsions may occur in around 10-15% of children with roseola infantum. While this can be concerning for parents, it is important to note that this is a common occurrence and typically resolves on its own. Additionally, HHV6 infection can lead to other possible consequences such as aseptic meningitis and hepatitis.

      It is important to note that school exclusion is not necessary for children with roseola infantum. While this illness can be uncomfortable for infants, it is typically not serious and resolves on its own within a few days.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 10 - A 7-year-old girl presents with a 3-day history of an itchy rash, initially...

    Correct

    • A 7-year-old girl presents with a 3-day history of an itchy rash, initially on her abdomen and now spreading across the rest of her torso and limbs. She is usually healthy and is not taking any other medications, and the rest of her family is also healthy. There is a widespread vesicular rash with some papules and crusting, as well as newer papules. Her temperature is 37.6 °C and her other vital signs are normal.
      What is the next appropriate step in managing this patient?

      Your Answer: Paracetamol

      Explanation:

      Management of Chickenpox in Children: Treatment Options and Complications

      Chickenpox (varicella-zoster) is a common childhood infection that spreads through the respiratory route, causing a vesicular rash. The child may experience a low-grade fever, which can be managed with paracetamol for symptomatic relief. However, parents should also be advised on hydration and red flag symptoms for potential complications. While chlorphenamine and calamine lotion can provide supportive therapy, evidence for their effectiveness is limited.

      In rare cases, chickenpox can lead to complications such as encephalitis, pneumonitis, disseminated intravascular coagulation, or bacterial superinfection with staphylococcal aureus. If bacterial superinfection occurs, hospital admission and treatment with antibiotics, possibly in conjunction with acyclovir, may be necessary.

      Zoster immunoglobulin is not recommended for children with uncomplicated chickenpox who do not have a history of immunosuppression. Similarly, oral acyclovir is not recommended for otherwise healthy children under the age of 12.

      It is important for healthcare providers to be aware of the potential complications of chickenpox and to provide appropriate management to ensure the best possible outcomes for affected children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 11 - A 3-year-old girl is brought to the Emergency Department, during the autumn period,...

    Incorrect

    • A 3-year-old girl is brought to the Emergency Department, during the autumn period, with severe dyspnoea at rest. She has been unwell for the past week with a barking cough and inspiratory stridor which are typically worse in the late evening. On examination, intercostal and subdiaphragmatic recessions are noticeable. A chest radiograph shows tapering of the upper trachea.
      What is the most probable pathogen responsible for this girl's condition?

      Your Answer: Respiratory syncytial virus

      Correct Answer: Parainfluenza virus

      Explanation:

      The most likely cause of this patient’s dyspnoea at rest, combined with being generally unwell and the time of year, is croup. Croup is commonly caused by the parainfluenza virus. Bordetella pertussis, Parvovirus B19, and Respiratory syncytial virus are unlikely causes as they present with different symptoms and are associated with different conditions.

      Understanding Croup: A Respiratory Infection in Infants and Toddlers

      Croup is a type of upper respiratory tract infection that commonly affects infants and toddlers. It is characterized by a barking cough, fever, and coryzal symptoms, and is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses are the most common cause of croup. The condition typically peaks between 6 months and 3 years of age, and is more prevalent during the autumn season.

      The severity of croup can be graded based on the presence of symptoms such as stridor, cough, and respiratory distress. Mild cases may only have occasional barking cough and no audible stridor at rest, while severe cases may have frequent barking cough, prominent inspiratory stridor at rest, and marked sternal wall retractions. Children with moderate or severe croup, those under 6 months of age, or those with known upper airway abnormalities should be admitted to the hospital.

      Diagnosis of croup is usually made based on clinical presentation, but a chest x-ray may show subglottic narrowing, commonly referred to as the steeple sign. Treatment for croup typically involves a single dose of oral dexamethasone or prednisolone, regardless of severity. In emergency situations, high-flow oxygen and nebulized adrenaline may be necessary.

      Understanding croup is important for parents and healthcare providers alike, as prompt recognition and treatment can help prevent complications and improve outcomes for affected children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 12 - A 5-year-old child presents with the classic murmur of a patent ductus arteriosus....

    Incorrect

    • A 5-year-old child presents with the classic murmur of a patent ductus arteriosus. The child is underweight for their age but is otherwise in good health.

      What course of action would you suggest for this patient?

      Your Answer: Review the child frequently, expecting spontaneous closure within the next five years

      Correct Answer: Early operative closure

      Explanation:

      Recommendations for Operative Closure and Antibiotic Use in Persistent Defects

      Early operative closure is advised for patients with defects that have not resolved by 6 months of age. It is important to address these defects promptly to prevent complications and improve outcomes. However, prophylactic antibiotics are no longer recommended for dental and other invasive procedures in these patients. This change in practice is due to concerns about antibiotic resistance and the potential for adverse effects. Instead, careful monitoring and prompt treatment of any infections or complications that arise is recommended. By following these guidelines, healthcare providers can ensure the best possible outcomes for patients with persistent defects.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 13 - A 5-year-old girl is brought in by ambulance after her parents awoke in...

    Correct

    • A 5-year-old girl is brought in by ambulance after her parents awoke in the middle of the night to a harsh coughing episode and noted she had difficulty breathing. She has been coryzal over the last 2 days but has never had any episodes like this before. The paramedics have given a salbutamol nebuliser, to some effect, but she continues to have very noisy breathing. Oxygen saturations are 94% on air, with a respiratory rate of 50.
      What is the most likely diagnosis?

      Your Answer: Croup

      Explanation:

      Pediatric Respiratory Conditions: Croup and Acute Epiglottitis

      Croup is a common upper respiratory tract infection in children caused by the parainfluenza virus. It leads to laryngotracheobronchitis and upper airway obstruction, resulting in symptoms such as a barking cough, stridor, and difficulty breathing. Treatment involves a single dose of oral dexamethasone or inhaled budesonide, oxygen, and inhaled adrenaline in severe cases.

      Viral-induced wheeze and asthma are unlikely diagnoses in this case due to the lack of wheeze and minimal improvement with salbutamol. Inhalation of a foreign body is also unlikely given the absence of a history of playing with an object.

      Acute epiglottitis is a rare but serious condition that presents similarly to croup. It is caused by inflammation of the epiglottis, usually due to streptococci. Symptoms develop rapidly over a few hours and include difficulty swallowing, muffled voice, drooling, cervical lymphadenopathy, and fever. The tripod sign, where the child leans on outstretched arms to assist with breathing, is a characteristic feature.

      In conclusion, prompt recognition and appropriate management of pediatric respiratory conditions such as croup and acute epiglottitis are crucial to prevent complications and ensure optimal outcomes.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 14 - A 33-year-old woman comes to see her GP to talk about her pregnancy....

    Correct

    • A 33-year-old woman comes to see her GP to talk about her pregnancy. She has a history of asthma and is concerned about the possibility of her child developing asthma as well. She has been a smoker since she was 16 years old but has reduced her smoking to ten cigarettes a day since becoming pregnant.

      What steps can she take to minimize the risk of her baby developing asthma?

      Your Answer: Stop smoking

      Explanation:

      Tips for a Healthy Pregnancy: Avoiding Risks and Taking Folic Acid

      Pregnancy is a crucial time for both the mother and the developing baby. To ensure a healthy pregnancy, there are certain things that should be avoided and others that should be taken. Here are some tips for a healthy pregnancy:

      Stop smoking: Smoking during pregnancy can increase the risk of stillbirth, premature labour, and low birth weight. Second-hand smoke can also increase the risk of sudden infant death syndrome and asthma in children. It is best for everyone to stop smoking, and support and advice can be obtained from GPs.

      Avoid alcohol: Alcohol can lead to fetal alcohol syndrome, which can cause a range of developmental issues in the baby. It is best to avoid alcohol during pregnancy.

      Avoid caffeine: Caffeine can increase the risk of low birth weight and miscarriage. It is advised to reduce caffeine consumption as much as possible during pregnancy.

      Avoid eating peanuts: Contrary to previous advice, it is now considered safe for pregnant women to eat peanuts as long as they do not have a history of allergy themselves.

      Take folic acid: Folic acid is important in reducing the risk of neural tube defects in the developing baby. The standard dose is 400 ÎĽg daily, but a higher dose may be recommended for those with other risk factors.

      By following these tips, pregnant women can help ensure a healthy pregnancy and a healthy baby.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 15 - A 14-year-old teenage girl comes to the clinic with concerns about delayed puberty...

    Incorrect

    • A 14-year-old teenage girl comes to the clinic with concerns about delayed puberty and not having started her menstrual cycle. She reports feeling generally well and has no significant medical history. During the examination, it is noted that she has a slender build and underdeveloped breasts. There is no pubic hair present. Upon palpation, marble-sized swellings are felt in both groins. What is the most probable cause of her presentation?

      Your Answer: Congenital adrenal hyperplasia

      Correct Answer: Androgen insensitivity

      Explanation:

      The classic presentation of androgen insensitivity is primary amenorrhoea, with the key symptom being groin swellings. When combined with the absence of pubic hair, this points towards a diagnosis of androgen insensitivity, also known as testicular feminisation syndrome. This condition occurs in individuals who are genetically male (46XY) but appear phenotypically female due to increased oestradiol levels, which cause breast development. The groin swellings in this case are undescended testes. While non-Hodgkin’s lymphoma could also cause groin swellings, it is less likely as it would typically present with systemic symptoms and is not a common cause of delayed puberty.

      Disorders of sex hormones can have various effects on the body, as shown in the table below. Primary hypogonadism, also known as Klinefelter’s syndrome, is characterized by high levels of LH and low levels of testosterone. Patients with this disorder often have small, firm testes, lack secondary sexual characteristics, and are infertile. They may also experience gynaecomastia and have an increased risk of breast cancer. Diagnosis is made through chromosomal analysis.

      Hypogonadotrophic hypogonadism, or Kallmann syndrome, is another cause of delayed puberty. It is typically inherited as an X-linked recessive trait and is caused by the failure of GnRH-secreting neurons to migrate to the hypothalamus. Patients with Kallmann syndrome may have hypogonadism, cryptorchidism, and anosmia. Sex hormone levels are low, and LH and FSH levels are inappropriately low or normal. Cleft lip/palate and visual/hearing defects may also be present.

      Androgen insensitivity syndrome is an X-linked recessive condition that causes end-organ resistance to testosterone, resulting in genotypically male children (46XY) having a female phenotype. Complete androgen insensitivity syndrome is the new term for testicular feminisation syndrome. Patients with this disorder may experience primary amenorrhoea, undescended testes causing groin swellings, and breast development due to the conversion of testosterone to oestradiol. Diagnosis is made through a buccal smear or chromosomal analysis to reveal a 46XY genotype. Management includes counseling to raise the child as female, bilateral orchidectomy due to an increased risk of testicular cancer from undescended testes, and oestrogen therapy.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 16 - Which one of the following statements regarding cow's milk protein intolerance/allergy in toddlers...

    Incorrect

    • Which one of the following statements regarding cow's milk protein intolerance/allergy in toddlers is true?

      Your Answer: It is more common in breastfed infants

      Correct Answer: The majority of cases resolve before the age of 5 years

      Explanation:

      Understanding Cow’s Milk Protein Intolerance/Allergy

      Cow’s milk protein intolerance/allergy (CMPI/CMPA) is a condition that affects around 3-6% of children, typically presenting in the first 3 months of life in formula-fed infants. Both immediate and delayed reactions can occur, with CMPA used for immediate reactions and CMPI for mild-moderate delayed reactions. Symptoms include regurgitation, vomiting, diarrhea, urticaria, atopic eczema, colic symptoms, wheeze, chronic cough, and rarely, angioedema and anaphylaxis. Diagnosis is often clinical, with investigations including skin prick/patch testing and total IgE and specific IgE (RAST) for cow’s milk protein.

      Management for formula-fed infants includes using extensive hydrolyzed formula (eHF) milk as the first-line replacement formula for mild-moderate symptoms and amino acid-based formula (AAF) for severe CMPA or if no response to eHF. Around 10% of infants are also intolerant to soya milk. For breastfed infants, mothers should eliminate cow’s milk protein from their diet and consider prescribing calcium supplements to prevent deficiency. eHF milk can be used when breastfeeding stops until at least 6 months and up to 12 months of age.

      The prognosis for CMPI is usually good, with most children becoming milk tolerant by the age of 3-5 years. However, a challenge is often performed in a hospital setting as anaphylaxis can occur. It is important to refer infants with severe symptoms to a pediatrician for management. Understanding CMPI/CMPA and its management can help parents and healthcare providers provide appropriate care for affected children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 17 - A 6-year-old boy visits his GP with a productive cough and wheeze. During...

    Incorrect

    • A 6-year-old boy visits his GP with a productive cough and wheeze. During the examination, a 1/6 intensity systolic murmur is detected in the second intercostal space lateral to the left sternal edge. The murmur is not audible when the child lies flat. What is the most probable diagnosis?

      Your Answer: Pulmonary stenosis

      Correct Answer: Innocent murmur

      Explanation:

      The innocent murmur is the correct answer. It is characterized by being soft, systolic, short, symptomless, and varying with position when standing or sitting. In contrast, coarctation of the aorta produces an ejection systolic murmur that can be heard through to the back and does not change with position. This condition is also associated with hypertension in the upper extremities and a difference in blood pressure between the arms and legs. Ventricular septal defect presents as a pansystolic murmur, while atrial septal defect is an ejection systolic murmur that is often accompanied by fixed splitting of the 2nd heart sound.

      Innocent murmurs are common in children and are usually harmless. There are different types of innocent murmurs, including ejection murmurs, venous hums, and Still’s murmur. Ejection murmurs are caused by turbulent blood flow at the outflow tract of the heart, while venous hums are due to turbulent blood flow in the great veins returning to the heart. Still’s murmur is a low-pitched sound heard at the lower left sternal edge.

      An innocent ejection murmur is characterized by a soft-blowing murmur in the pulmonary area or a short buzzing murmur in the aortic area. It may vary with posture and is localized without radiation. There is no diastolic component, no thrill, and no added sounds such as clicks. The child is usually asymptomatic, and there are no other abnormalities.

      Overall, innocent murmurs are not a cause for concern and do not require treatment. However, if a child has symptoms such as chest pain, shortness of breath, or fainting, further evaluation may be necessary to rule out any underlying heart conditions.

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      • Paediatrics
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  • Question 18 - A two-hour-old baby born at 38+5 weeks in the Special Care Baby Unit...

    Incorrect

    • A two-hour-old baby born at 38+5 weeks in the Special Care Baby Unit is exhibiting mild respiratory distress, with subcostal recessions and grunting. The baby's respiratory rate is 68/min without any apnoeas, their heart rate is 150 bpm, and their axillary temperature is 36.8ÂşC. The baby appears pink, with normal pre-post ductal saturations and no additional heart sounds. Fontanelles are normal, and their birth weight is within the normal range.

      The chest X-ray shows hyperinflation and a thin fluid line in the right horizontal fissure. What is the most significant risk factor for the likely diagnosis?

      Your Answer: Meconium in liquor

      Correct Answer: Caesarean section delivery

      Explanation:

      Transient tachypnoea of the newborn (TTN) is most likely the diagnosis for a baby with mildly raised respiratory rate and increased work of breathing in the hours after labour, with all other observations being normal. Caesarean section delivery is the most important risk factor for TTN, with other risk factors including male gender, birth asphyxia, and gestational diabetes. Breech presentation is not a risk factor for TTN, while meconium in liquor would make meconium aspiration the most likely diagnosis. Fever during vaginal delivery would make other infective differentials more likely, but a sepsis screen would be needed to rule this out before a diagnosis of TTN could be made.

      Understanding Transient Tachypnoea of the Newborn

      Transient tachypnoea of the newborn (TTN) is a common respiratory condition that affects newborns. It is caused by the delayed resorption of fluid in the lungs, which can lead to breathing difficulties. TTN is more common in babies born via caesarean section, as the fluid in their lungs may not be squeezed out during the birth process. A chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure.

      The management of TTN involves observation and supportive care. In some cases, supplementary oxygen may be required to maintain oxygen saturation levels. However, TTN usually resolves within 1-2 days. It is important for healthcare professionals to monitor newborns with TTN closely and provide appropriate care to ensure a full recovery. By understanding TTN and its management, healthcare professionals can provide the best possible care for newborns with this condition.

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      • Paediatrics
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  • Question 19 - When do most infants begin to smile? ...

    Correct

    • When do most infants begin to smile?

      Your Answer: 6 weeks

      Explanation:

      The table summarizes developmental milestones for social behavior, feeding, dressing, and play. Milestones include smiling at 6 weeks, using a spoon and cup at 12-15 months, and playing with other children at 4 years.

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      • Paediatrics
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  • Question 20 - Sophie is a 16-year-old girl who is admitted with abdominal pain. An ultrasound...

    Incorrect

    • Sophie is a 16-year-old girl who is admitted with abdominal pain. An ultrasound scan report comes back with findings consistent with appendicitis. Her parents do not want her to undergo surgery.

      Sophie appears to be a mature and intelligent young woman and is currently in a stable condition. After extensive discussions with her parents and the surgical team, Sophie expresses her desire to undergo surgery. However, her parents are unhappy with her decision and threaten to sue the hospital if she goes through with the operation.

      What is the appropriate course of action in this situation?

      Your Answer: Take her to theatre as she has verbally consented for treatment

      Correct Answer: Obtain written consent for appendicectomy from Jessica and take her to theatre

      Explanation:

      Jessica is deemed to have Gillick competence by the medical team, as she is a bright young woman who has thoroughly discussed the situation and appears to comprehend it. Therefore, she can provide consent for the procedure, even if her parents disagree. As she is stable, written consent should be obtained instead of verbal consent, which could be used in an emergency. It is not advisable to try and persuade her parents of the advantages of surgery, as this could delay her treatment. If Jessica has given her own valid consent, there is no need to wait for her parents’ decision. According to GMC’s 0-18 years guidance, parents cannot override the competent consent of a young person for treatment that is deemed to be in their best interests. However, parental consent can be relied upon when a child lacks the capacity to provide consent.

      Guidelines for Obtaining Consent in Children

      The General Medical Council has provided guidelines for obtaining consent in children. According to these guidelines, young people who are 16 years or older can be treated as adults and are presumed to have the capacity to make decisions. However, for children under the age of 16, their ability to understand what is involved determines whether they have the capacity to decide. If a competent child refuses treatment, a person with parental responsibility or the court may authorize investigation or treatment that is in the child’s best interests.

      When it comes to providing contraceptives to patients under 16 years of age, the Fraser Guidelines must be followed. These guidelines state that the young person must understand the professional’s advice, cannot be persuaded to inform their parents, is likely to begin or continue having sexual intercourse with or without contraceptive treatment, and will suffer physical or mental health consequences without contraceptive treatment. Additionally, the young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent.

      Some doctors use the term Fraser competency when referring to contraception and Gillick competency when referring to general issues of consent in children. However, rumors that Victoria Gillick removed her permission to use her name or applied copyright have been debunked. It is important to note that in Scotland, those with parental responsibility cannot authorize procedures that a competent child has refused.

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      • Paediatrics
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  • Question 21 - A mother brings her four-month-old baby to the GP, concerned about episodes of...

    Correct

    • A mother brings her four-month-old baby to the GP, concerned about episodes of vomiting and crying which she believes may be due to a tummy ache. The mother reports that her baby vomits after most feeds and cries constantly, even when laid down. The vomiting is non-projectile and non-bilious. The baby was born at 39 weeks via vaginal delivery, and the pregnancy was uncomplicated. The baby lives with both parents. On examination, the baby's weight is appropriate for their growth chart. Their heart rate is 140 bpm, O2 saturation is 97%, respiratory rate is 42/min, and temperature is 37.6ÂşC. What is the most likely diagnosis?

      Your Answer: Gastro-oesophageal reflux

      Explanation:

      The most likely diagnosis for an infant under 8 weeks old who is experiencing milky vomits after feeds, especially when laid flat, and excessive crying is gastro-oesophageal reflux (GORD). This is because the symptoms are typical of GORD, with non-projectile and non-bilious vomits and normal observations. Cow’s milk protein intolerance is a possible differential, but there is no history of stool changes or rashes, and it usually presents earlier in life. Duodenal atresia is unlikely as it typically presents with projectile and bilious vomiting and earlier in life. Gastroenteritis is also less likely as it is commonly caused by a viral infection with associated fever and tachycardia, and there is no mention of stool changes in the history.

      Understanding Gastro-Oesophageal Reflux in Children

      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 children involves advising parents on proper feeding positions, ensuring the infant is not being overfed, and considering a trial of thickened formula or alginate therapy. Proton pump inhibitors are not recommended unless the child is experiencing unexplained feeding difficulties, distressed behavior, or faltering growth. Ranitidine, previously used as an alternative to PPIs, has been withdrawn from the market due to the discovery of carcinogens in some products. Prokinetic agents should only be used with specialist advice.

      Complications of gastro-oesophageal reflux in children include distress, failure to thrive, aspiration, frequent otitis media, and dental erosion in older children. In severe cases where medical treatment is ineffective, fundoplication may be considered. It is important for parents and caregivers to understand the symptoms and management options for gastro-oesophageal reflux in children to ensure the best possible outcomes for their little ones.

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      • Paediatrics
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  • Question 22 - A 10-year-old boy is seen in the paediatric clinic for a follow-up appointment....

    Incorrect

    • A 10-year-old boy is seen in the paediatric clinic for a follow-up appointment. His standing height is below the 0.4th centile, while his sitting height is on the 9th centile. These measurements have been consistent with their respective centiles for the past three years. What genetic diagnosis is most probable for this boy?

      Your Answer: Noonan's syndrome

      Correct Answer: Achondroplasia

      Explanation:

      Achondroplasia and Other Causes of Short Stature

      Achondroplasia is a genetic condition that affects bone growth, resulting in disproportionately short limbs and a greater sitting height compared to standing height. This is because the condition impairs the growth of cartilaginous bone, leading to much shorter arms and legs than the spine. Measuring sitting height can help estimate axial skeleton growth compared to standing height, which includes the limbs.

      Other causes of short stature include Down’s syndrome and Noonan’s syndrome, which result in proportionate short stature and a similar standing and sitting centile. However, Fragile X syndrome and Klinefelter’s syndrome typically do not cause short stature. It is important to understand the underlying causes of short stature in order to provide appropriate medical care and support for individuals affected by these conditions.

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      • Paediatrics
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  • Question 23 - The mother of a 3-year-old child is worried about her child's developmental progress....

    Incorrect

    • The mother of a 3-year-old child is worried about her child's developmental progress. Upon assessment, you observe that the child can only build a tower of five blocks at most and can only speak in two to three-word phrases. What is the typical age range for a healthy child to achieve these developmental milestones?

      Your Answer: 18 months

      Correct Answer: 2 ½ years

      Explanation:

      Developmental Delay in Children

      Developmental delay in children can be a cause for concern, especially when they fail to meet certain milestones at their age. For instance, a 4-year-old child should be able to speak in full sentences, play interactively, and build structures with building blocks. However, when a child exhibits a degree of developmental delay, it could be due to various factors such as neurological and neurodevelopmental problems like cerebral palsy and epilepsy, unmet physical and psychological needs, sensory impairment, genetic conditions like Down’s syndrome, and ill health.

      It is important to understand the causes of developmental delay in children to provide appropriate interventions and support. Parents and caregivers should observe their child’s development and seek professional help if they notice any delays or abnormalities. Early intervention can help address developmental delays and improve a child’s overall well-being. By the factors that contribute to developmental delay, we can work towards creating a supportive environment that promotes healthy growth and development in children.

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      • Paediatrics
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  • Question 24 - A toddler is brought to the emergency room with breathing difficulties. The medical...

    Correct

    • A toddler is brought to the emergency room with breathing difficulties. The medical team wants to evaluate the child's condition.
      At what point should the APGAR score be evaluated?

      Your Answer: 1 and 5 minutes of age

      Explanation:

      According to NICE, it is recommended that APGAR scores are regularly evaluated at both 1 and 5 minutes after a baby is born. The APGAR score is a measure of a newborn’s overall health, based on their pulse, breathing, color, muscle tone, and reflexes. A higher score indicates better health, with scores ranging from 0-3 (very low), 4-6 (moderately low), and 7-10 (good). If a baby’s score is less than 5 at 5 minutes, additional APGAR scores should be taken at 10, 15, and 30 minutes, and umbilical cord blood gas sampling may be necessary. It is important to note that the correct time for assessing APGAR scores is at 1 and 5 minutes after birth, and none of the other options are accurate.

      The Apgar score is a tool used to evaluate the health of a newborn baby. It is recommended by NICE to be assessed at 1 and 5 minutes after birth, and again at 10 minutes if the initial score is low. The score is based on five factors: pulse, respiratory effort, color, muscle tone, and reflex irritability. A score of 0-3 is considered very low, 4-6 is moderate low, and 7-10 indicates that the baby is in good health. The score helps healthcare professionals quickly identify any potential issues and provide appropriate care.

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      • Paediatrics
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  • Question 25 - You are summoned to the neonatal ward to assess a 12 hour old...

    Correct

    • You are summoned to the neonatal ward to assess a 12 hour old infant delivered via elective caesarian section at 38 weeks gestation. Upon reviewing the medical records, you come across the administration of maternal labetalol for hypertension. During the physical examination, you observe that the baby displays tremors and decreased muscle tone. What would be the most suitable course of action to take next?

      Your Answer: Measure blood glucose levels

      Explanation:

      If a baby appears nervous and has low muscle tone, it could indicate neonatal hypoglycemia. It is important to check the baby’s blood glucose levels, especially if the mother has been taking labetalol. Additionally, if the mother has used opiates or illegal drugs during pregnancy, the baby may also exhibit symptoms of neonatal abstinence syndrome.

      Neonatal Hypoglycaemia: Causes, Symptoms, and Management

      Neonatal hypoglycaemia is a common condition in newborn babies, especially in the first 24 hours of life. While there is no agreed definition, a blood glucose level of less than 2.6 mmol/L is often used as a guideline. Transient hypoglycaemia is normal and usually resolves on its own, but persistent or severe hypoglycaemia may be caused by various factors such as preterm birth, maternal diabetes mellitus, IUGR, hypothermia, neonatal sepsis, inborn errors of metabolism, nesidioblastosis, or Beckwith-Wiedemann syndrome.

      Symptoms of neonatal hypoglycaemia can be autonomic, such as jitteriness, irritability, tachypnoea, and pallor, or neuroglycopenic, such as poor feeding/sucking, weak cry, drowsiness, hypotonia, and seizures. Other features may include apnoea and hypothermia. Management of neonatal hypoglycaemia depends on the severity of the condition and whether the newborn is symptomatic or not. Asymptomatic babies can be encouraged to feed normally and have their blood glucose monitored, while symptomatic or severely hypoglycaemic babies may need to be admitted to the neonatal unit and receive intravenous infusion of 10% dextrose.

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      • Paediatrics
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  • Question 26 - A 17 month old girl comes to your GP clinic with symptoms of...

    Incorrect

    • A 17 month old girl comes to your GP clinic with symptoms of a viral URTI. While examining her, you notice some developmental concerns. What would be the most worrying sign?

      Your Answer: Plays alone

      Correct Answer: Unable to say 6 individual words with meaning

      Explanation:

      1. At 23-24 months, children typically have a vocabulary of 20-50 words and can form 2-word phrases with meaning.
      2. Toilet training usually occurs at or after 3 years of age.
      3. By 3 years of age, most children can stand briefly on one leg and hop by age 4.
      4. Walking is typically achieved by 18 months, although most children will walk before 17 months.
      5. It is common for 23-month-old children to engage in solitary play.

      Developmental milestones for speech and hearing are important indicators of a child’s growth and development. These milestones can help parents and caregivers track a child’s progress and identify any potential issues early on. At three months, a baby should be able to quieten to their parents’ voice and turn towards sound. They may also start to squeal. By six months, they should be able to produce double syllables like adah and erleh. At nine months, they may say mama and dada and understand the word no. By 12 months, they should know and respond to their own name and understand simple commands like give it to mummy.

      Between 12 and 15 months, a child may know about 2-6 words and understand more complex commands. By two years old, they should be able to combine two words and point to parts of their body. Their vocabulary should be around 200 words by 2 1/2 years old. At three years old, they should be able to talk in short sentences and ask what and who questions. They may also be able to identify colors and count to 10. By four years old, they may start asking why, when, and how questions. These milestones are important to keep in mind as a child grows and develops their speech and hearing abilities.

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      • Paediatrics
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  • Question 27 - A 4-year-old boy is brought to the emergency department with symptoms of lethargy,...

    Correct

    • A 4-year-old boy is brought to the emergency department with symptoms of lethargy, cough and breathlessness that have been present for the past 2 weeks. The mother reports that the cough has been progressively worsening, but there is no production of sputum. Upon examination, the child has a fever, tachycardia and tachypnoea. Given the age and worsening cough, the suspected infecting organism is Mycoplasma pneumonia. A chest x-ray confirms right lower zone consolidation. What is the most appropriate oral therapy for this patient?

      Your Answer: Erythromycin

      Explanation:

      If Mycoplasma pneumonia is suspected in children with pneumonia, a macrolide such as erythromycin should be used as the first line of treatment. However, if the pneumonia is associated with influenzae, co-amoxiclav may be prescribed, while amoxicillin is the first line for other cases. For suspected meningitis, benzylpenicillin is the recommended treatment, and acyclovir is used as an antiviral.

      Pneumonia is a common illness in children, with S. pneumoniae being the most likely cause of bacterial pneumonia. The British Thoracic Society has published guidelines for the management of community acquired pneumonia in children. According to these guidelines, amoxicillin is the first-line treatment for all children with pneumonia. Macrolides may be added if there is no response to first-line therapy, or if mycoplasma or chlamydia is suspected. In cases of pneumonia associated with influenzae, co-amoxiclav is recommended. It is important to follow these guidelines to ensure effective treatment and management of pneumonia in children.

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      • Paediatrics
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  • Question 28 - You are requested to assess an infant in the neonatal unit. The baby...

    Correct

    • You are requested to assess an infant in the neonatal unit. The baby was delivered at 39 weeks gestation without any complications. The parents are hesitant to give their consent for vitamin K administration, citing their preference for a more natural approach. How would you advise the parents on the recommended practice for neonatal vitamin K?

      Your Answer: Once-off IM injection

      Explanation:

      Vitamin K is crucial in preventing haemorrhagic disease in newborns and can be administered orally or intramuscularly. While both methods are licensed for neonates, it is advisable to recommend the IM route to parents due to concerns about compliance and the shorter duration of treatment (one-off injection). The oral form is not recommended for healthy neonates as there is a risk of inadequate dosage due to forgetfulness or the baby vomiting up the medication.

      Haemorrhagic Disease of the Newborn: Causes and Prevention

      Newborn babies have a relatively low level of vitamin K, which can lead to the development of haemorrhagic disease of the newborn (HDN). This condition occurs when the production of clotting factors is impaired, resulting in bleeding that can range from minor bruising to intracranial haemorrhages. breastfed babies are particularly at risk, as breast milk is a poor source of vitamin K. Additionally, the use of antiepileptic medication by the mother can increase the risk of HDN in the newborn.

      To prevent HDN, all newborns in the UK are offered vitamin K supplementation. This can be administered either intramuscularly or orally. By providing newborns with adequate levels of vitamin K, the risk of HDN can be significantly reduced. It is important for parents and healthcare providers to be aware of the risk factors for HDN and to take steps to prevent this potentially serious condition.

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      • Paediatrics
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  • Question 29 - A 6-year-old boy is brought to the Emergency Department with episodes of cyanosis...

    Correct

    • A 6-year-old boy is brought to the Emergency Department with episodes of cyanosis during physical activity. He was born at term via normal vaginal delivery, without complications during pregnancy. The child has been healthy, but recently started experiencing bluish skin during physical activity.
      After examination, the child is diagnosed with Fallot's tetralogy.
      What is a common association with a patient diagnosed with Fallot's tetralogy?

      Your Answer: Ventricular septal defect (VSD)

      Explanation:

      Common Heart Conditions and Their Characteristics

      Ventricular Septal Defect (VSD), Pulmonary Stenosis, Right Ventricular Outflow Tract (RVOT) Obstruction, Right Ventricular Hypertrophy, and Overriding of the VSD by the Aorta are all characteristics of Fallot’s Tetralogy, the most common form of cyanotic congenital heart disease. This condition presents with cyanotic episodes, typically at 1-2 months of age. Atrial Septal Defect (ASD) is not associated with Fallot’s Tetralogy. Pulmonary Regurgitation is not seen in Fallot’s Tetralogy, but rather Pulmonary Stenosis. A Continuous Murmur throughout Systole and Diastole is a characteristic of Patent Ductus Arteriosus (PDA). Hypoplastic Right Ventricle is not associated with Fallot’s Tetralogy, but rather Right Ventricular Hypertrophy.

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      • Paediatrics
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  • Question 30 - A 5-year-old boy has been brought in by his worried mother. She reports...

    Correct

    • A 5-year-old boy has been brought in by his worried mother. She reports that he is a typical boy, but he has been experiencing difficulty walking and falls frequently. He started walking at 15 months old, and she has observed that he requires assistance getting up from a seated position. Apart from that, he is comparable to his classmates in school and has progressed normally. During the examination, he displays proximal weakness, but his distal muscle strength is intact.
      What is the probable diagnosis?

      Your Answer: Duchenne muscular dystrophy (DMD)

      Explanation:

      Differentiating Duchenne Muscular Dystrophy from Other Neuromuscular Disorders

      Duchenne muscular dystrophy (DMD) is a genetic disorder that primarily affects boys and is characterized by progressive muscle weakness. It is important to differentiate DMD from other neuromuscular disorders to ensure proper diagnosis and treatment.

      Guillain–Barré syndrome (GBS) and progressive muscular atrophy are two conditions that affect the lower motor neurons but are not characterized by proximal weakness, which is a hallmark of DMD. Global developmental delay, on the other hand, is characterized by intellectual and communication limitations, delayed milestones, and motor skill delays, but not proximal weakness.

      Spinal muscular atrophy (SMA) is another neuromuscular disorder that can be confused with DMD. However, SMA has four types, each with distinct clinical presentations. The scenario described in the prompt does not fit with any of the four types of SMA.

      In summary, understanding the unique clinical features of DMD and differentiating it from other neuromuscular disorders is crucial for accurate diagnosis and appropriate management.

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