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Question 1
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A 17-year-old boy with cystic fibrosis is due for his yearly check-up. He was diagnosed with cystic fibrosis 16 years ago. Despite having good exercise tolerance and minimal gastrointestinal symptoms, he has been hospitalized twice in the past year. His recent blood work shows iron-deficient anemia, and multiple sputum cultures have tested positive for Burkholderia species. His latest FEV1 is 55% of his predicted value. What aspect of his medical history poses the greatest risk for mortality?
Your Answer: Burkholderia species on sputum culture
Explanation:Increases the likelihood of death and illness to a greater extent.
Managing Cystic Fibrosis: A Multidisciplinary Approach
Cystic fibrosis (CF) is a chronic condition that requires a multidisciplinary approach to management. Regular chest physiotherapy and postural drainage, as well as deep breathing exercises, are essential to maintain lung function and prevent complications. Parents are usually taught how to perform these techniques. A high-calorie diet, including high-fat intake, is recommended to meet the increased energy needs of patients with CF. Vitamin supplementation and pancreatic enzyme supplements taken with meals are also important.
Patients with CF should try to minimize contact with each other to prevent cross-infection with Burkholderia cepacia complex and Pseudomonas aeruginosa. Chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation. In cases where lung transplantation is necessary, careful consideration is required to ensure the best possible outcome.
Lumacaftor/Ivacaftor (Orkambi) is a medication used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation. Lumacaftor increases the number of CFTR proteins that are transported to the cell surface, while ivacaftor is a potentiator of CFTR that is already at the cell surface. This increases the probability that the defective channel will be open and allow chloride ions to pass through the channel pore.
It is important to note that the standard recommendation for CF patients has changed from high-calorie, low-fat diets to high-calorie diets to reduce the amount of steatorrhea. With a multidisciplinary approach to management, patients with CF can lead fulfilling lives and manage their condition effectively.
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This question is part of the following fields:
- Paediatrics
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Question 2
Incorrect
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A baby born to a 28-year-old woman has ambiguous genitalia on examination; the rest of the physical examination is normal. Genotype is determined to be XY. The testes are retained within the abdominal cavity, and the internal reproductive tracts exhibit the normal male phenotype.
What could be the possible cause of this abnormal development?Your Answer: 17α-hydroxylase deficiency
Correct Answer: 5α-reductase deficiency
Explanation:There are several conditions that can affect the development of male reproductive organs. 5α-reductase deficiency is a congenital absence of 5α-reductase, which is necessary for the production of dihydrotestosterone. Without dihydrotestosterone, the external genitalia may not develop properly, resulting in feminization. Testicular dysgenesis can also lead to poor development of the testes and decreased secretion of testosterone, which can cause feminization of the external genitalia and female-type internal tracts. 17α-hydroxylase deficiency prevents the synthesis of testosterone, leading to feminization of the external genitalia and degeneration of the Wolffian ducts. Complete androgen resistance results in feminization of the external genitalia, but neither male nor female internal tracts develop. Sertoli-only syndrome occurs when only Sertoli cells are present, leading to absent spermatogenesis and increased FSH levels. This can result in both male and female internal tracts due to the absence of the Müllerian regression factor, but normal testosterone secretion allows for the development of male-type external genitalia.
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This question is part of the following fields:
- Paediatrics
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Question 3
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A 10-year-old girl is brought to the attention of a psychiatrist by her father with complaints of difficulty concentrating at home and at school. She is reported by the teachers to be easily distracted which is adversely affecting her learning. She also shows repeated outbursts of anger and her father thinks she has 'too much energy'. The psychiatrist diagnoses her with attention-deficit hyperactivity disorder (ADHD) and starts her on methylphenidate (Ritalin).
What parameter must be monitored every 6 months in this patient?Your Answer: Weight and height
Explanation:Regular monitoring of weight and height is recommended every 6 months for patients taking methylphenidate, a stimulant medication. This is important as the drug may cause appetite suppression and growth impairment in children. Additionally, blood pressure and pulse should also be monitored regularly.
In March 2018, NICE released new guidelines for identifying and managing Attention Deficit Hyperactivity Disorder (ADHD). This condition can have a significant impact on a child’s life and can continue into adulthood, making accurate diagnosis and treatment crucial. According to DSM-V, ADHD is characterized by persistent features of inattention and/or hyperactivity/impulsivity, with an element of developmental delay. Children up to the age of 16 must exhibit six of these features, while those aged 17 or over must exhibit five. ADHD has a UK prevalence of 2.4%, with a higher incidence in boys than girls, and there may be a genetic component.
NICE recommends a holistic approach to treating ADHD that is not solely reliant on medication. After presentation, a ten-week observation period should be implemented to determine if symptoms change or resolve. If symptoms persist, referral to secondary care is necessary, typically to a paediatrician with a special interest in behavioural disorders or to the local Child and Adolescent Mental Health Service (CAMHS). A tailored plan of action should be developed, taking into account the patient’s needs and wants, as well as how their condition affects their lives.
Drug therapy should be considered a last resort and is only available to those aged 5 years or older. Parents of children with mild/moderate symptoms can benefit from attending education and training programmes. For those who do not respond or have severe symptoms, pharmacotherapy may be considered. Methylphenidate is the first-line treatment for children and should be given on a six-week trial basis. It is a CNS stimulant that primarily acts as a dopamine/norepinephrine reuptake inhibitor. Side effects include abdominal pain, nausea, and dyspepsia. Weight and height should be monitored every six months in children. If there is an inadequate response, lisdexamfetamine should be considered, followed by dexamfetamine if necessary. In adults, methylphenidate or lisdexamfetamine are the first-line options, with switching between drugs if no benefit is seen after a trial of the other. All of these drugs are potentially cardiotoxic, so a baseline ECG should be performed before starting treatment, and referral to a cardiologist should be made if there is any significant past medical history or family history, or any doubt or ambiguity.
As with most psychiatric conditions, a thorough history and clinical examination are essential, particularly given the overlap of ADHD with many other psychiatric and
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This question is part of the following fields:
- Paediatrics
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Question 4
Correct
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A mother takes her four-week-old daughter to visit her pediatrician. The baby has been throwing up white substance after feeds, particularly when laid down afterwards. The mother reports that the baby also frequently cries during breastfeeding. The baby was born at 36 weeks through vaginal delivery and has been meeting developmental milestones. There are no other siblings. There have been no instances of bloody stools or diarrhea. What is the probable diagnosis?
Your Answer: Gastro-oesophageal reflux
Explanation:The most probable diagnosis for an infant under eight weeks who is experiencing milky vomits after feeds, particularly when laid flat, and excessive crying during feeds is gastro-oesophageal reflux. This is supported by the risk factor of preterm delivery in this case. Coeliac disease is an unlikely diagnosis as the child is exclusively breastfed and would typically present with diarrhoea and failure to thrive when introduced to cereals. Cow’s milk protein intolerance/allergy is also unlikely as it is more commonly seen in formula-fed infants and would typically present with additional symptoms such as atopy and diarrhoea. Duodenal atresia, which causes bilious vomiting in neonates a few hours after birth, is also an unlikely diagnosis for a six-week-old infant experiencing white vomitus.
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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This question is part of the following fields:
- Paediatrics
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Question 5
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A 5-day-old infant presents with feeding difficulties for the past day. The baby was born at 38 weeks, induced 48 hours after pre-labor spontaneous rupture of membranes. Following observation, there were no concerns and the baby was discharged. The infant is breastfed every 1-2 hours, but over the past 24 hours, has been less interested in feeding, occurring every 3-4 hours, sometimes being woken to feed. The baby appears uncomfortable during feeding and frequently pulls away. The mother also reports an unusual grunting sound after the baby exhales. Based on this information, what is the most likely diagnosis?
Your Answer: Neonatal sepsis
Explanation:Neonatal Sepsis: Causes, Risk Factors, and Management
Neonatal sepsis is a serious bacterial or viral infection in the blood that affects babies within the first 28 days of life. It is categorized into early-onset (EOS) and late-onset (LOS) sepsis, with each category having distinct causes and common presentations. The most common causes of neonatal sepsis are group B streptococcus (GBS) and Escherichia coli, accounting for approximately two-thirds of cases. Premature and low birth weight babies are at higher risk, as well as those born to mothers with GBS colonization or infection during pregnancy. Symptoms can vary from subtle signs of illness to clear septic shock, and diagnosis is usually established through blood culture. Treatment involves early identification and use of intravenous antibiotics, with duration depending on ongoing investigations and clinical picture. Other important management factors include maintaining adequate oxygenation and fluid and electrolyte status.
Neonatal Sepsis: Causes, Risk Factors, and Management
Neonatal sepsis is a serious infection that affects newborn babies within the first 28 days of life. It can be caused by a variety of bacteria and viruses, with GBS and E. coli being the most common. Premature and low birth weight babies, as well as those born to mothers with GBS colonization or infection during pregnancy, are at higher risk. Symptoms can range from subtle signs of illness to clear septic shock, and diagnosis is usually established through blood culture. Treatment involves early identification and use of intravenous antibiotics, with duration depending on ongoing investigations and clinical picture. Other important management factors include maintaining adequate oxygenation and fluid and electrolyte status.
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This question is part of the following fields:
- Paediatrics
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Question 6
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A 3-day-old infant is presenting with increased work of breathing. The baby was born via elective caesarean section at 38 weeks gestation and the pregnancy was uncomplicated. On examination, the infant has a respiratory rate of 70 breaths per minute (normal: 30-60) and an oxygen saturation of 94% (normal: >90%). Nasal flaring is also observed. A chest x-ray reveals hyperinflated lung fields and a line of fluid in the horizontal fissure of the left lung. Based on the likely diagnosis, what is the most appropriate course of action?
Your Answer: Supportive care
Explanation:The primary treatment for uncomplicated transient tachypnoea of the newborn is observation and supportive care, which may include oxygen supplementation if necessary. In this case, the symptoms and chest x-ray results suggest a diagnosis of transient tachypnoea of the newborn, which is caused by excess fluid in the lungs due to caesarean delivery. This condition is not life-threatening and can be managed with careful monitoring and appropriate care. Corticosteroids are not recommended for newborns with this condition, and humidified oxygen and nebulised salbutamol are not necessary in this case.
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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This question is part of the following fields:
- Paediatrics
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Question 7
Correct
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A 4-year-old girl visits her GP complaining of a fever and a rash.
What symptom might indicate the need for the GP to administer IM benzylpenicillin during the appointment?Your Answer: Coalescent purpura over the arms
Explanation:Common Paediatric Presentations and their Management
Fever with rash is a common presentation in paediatric patients, with viral infections being the most common cause. However, it is important to rule out meningococcal septicaemia, which can present with purpuric lesions and requires immediate management with IM or IV benzylpenicillin and hospital transfer. The causative agent is Neisseria meningitidis, and the features can be divided into meningitis and septic. Meningitic features include vomiting, neck stiffness, photophobia, Kernig sign, Brudzinski sign, focal neurology, and opisthotonus. Septic features include systemic illness, pyrexia, anorexia, and reduced tone.
Bilateral pustular eruptions on the fauces indicate bacterial tonsillitis, which is treated with amoxicillin. Measles can present with a maculopapular rash and white oral lesions known as Koplik spots. Varicella zoster virus infection causing chickenpox can present with pruritic vesicular eruptions over the trunk, which is treated symptomatically in immunocompetent children. A strawberry tongue is a sign of oral mucositis and can be found in scarlet fever or Kawasaki disease.
In summary, fever with rash in paediatric patients can have a wide differential diagnosis, and it is important to consider serious conditions such as meningococcal septicaemia. Proper management and treatment depend on identifying the underlying cause of the presentation.
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This question is part of the following fields:
- Paediatrics
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Question 8
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A 10-week-old baby is admitted to the Paediatric Ward by her General Practitioner (GP). She was born at term via normal vaginal delivery after an uncomplicated pregnancy. Her birthweight was 2900 g. Her 20-week anomaly scan was unremarkable. Her parents inform you that a heart murmur was noted at her 8-week check, for which she is awaiting routine outpatient assessment. Her parents report that, over the last week, she has had episodes of going blue during feeds and friends have remarked that she looks ‘off colour’. She had a similar episode while with her GP, and oxygen saturation was recorded at 88% peripherally. As a result, the GP called 999 and transferred her to hospital. She is growing along the 25th centile. On examination, she is alert with normal vital signs. Heart sounds reveal a loud systolic murmur at the lower left sternal edge; she had palpable femoral pulses bilaterally and very slight cyanosis. Her chest is clear, without recession or signs of distress. Her liver is not enlarged.
What is the most likely diagnosis?Your Answer: Tetralogy of Fallot
Explanation:Tetralogy of Fallot is a common congenital heart disease that affects around 3-6 out of every 10,000 births. It is characterized by four heart abnormalities that can cause symptoms such as cyanosis, difficulty with feeding, failure to thrive, and Tet spells. Diagnosis is typically made through echocardiography, and surgical correction is usually performed within the first two years of life.
Cyanotic heart disease can be divided into two groups: those that present in the first week of life and those that present after the first week. Examples of conditions that present in the first week include total pulmonary atresia, tricuspid atresia, and transposition of the great arteries. Examples of conditions that can present after the first week include tetralogy of Fallot, total anomalous pulmonary venous drainage, and tricuspid regurgitation with right-to-left shunt via atrial septal defect.
Transposition of the great arteries is a cyanotic congenital heart condition where the aorta arises from the right ventricle and the pulmonary arteries from the left ventricle. It typically presents with central cyanosis within the first day or two of life and is managed with intravenous prostaglandin E1 and balloon atrial septostomy.
Total pulmonary atresia is a congenital heart abnormality where the pulmonary valve fails to develop, resulting in disrupted blood flow from the right ventricle to the pulmonary trunk. It can occur with or without a ventricular septal defect and is associated with tetralogy of Fallot.
Ventricular septal defect is a congenital heart defect located in the interventricular septum that allows mixing of blood between the two sides of the heart. Symptoms depend on the size of the defect and can range from asymptomatic to signs of heart failure.
Patent ductus arteriosus is the failure of closure of the fetal connection between the descending aorta and pulmonary artery. It is not a cyanotic congenital heart defect and can be treated with intravenous indomethacin, cardiac catheterization, or ligation. Symptoms may include decreased exercise tolerance, pulmonary congestion, a cardiac murmur, or heart failure.
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This question is part of the following fields:
- Paediatrics
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Question 9
Correct
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A 4-month-old infant presents with feeding difficulties, failure to thrive, and episodes of bluish pale skin during crying or feeding. On examination, a harsh systolic ejection murmur is heard over the pulmonic area and left sternal border. A chest radiograph during birth was normal. A second radiograph at presentation shows a boot-shaped heart.
What is the most likely embryological mechanism responsible for the development of this condition?Your Answer: Anterosuperior displacement of the infundibular septum
Explanation:Mechanisms of Congenital Heart Defects
Congenital heart defects can arise from various mechanisms during fetal development. Understanding these mechanisms can aid in the diagnosis and treatment of these conditions.
Anterosuperior displacement of the infundibular septum is responsible for the characteristic boot-shaped heart seen in tetralogy of Fallot. This condition is characterized by pulmonary stenosis, right ventricular hypertrophy, ventricular septal defect, and an overriding aorta.
Transposition of the great vessels occurs when the aorticopulmonary septum fails to spiral during development. Persistent truncus arteriosus results from the failure of the aorticopulmonary septum to divide.
Infundibular stenosis is caused by underdevelopment of the conus arteriosus of the right ventricle. Sinus venosus atrial septal defects arise from incomplete absorption of the sinus venosus into the right atrium.
By understanding the mechanisms behind these congenital heart defects, healthcare professionals can provide better care for affected individuals.
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This question is part of the following fields:
- Paediatrics
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Question 10
Correct
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A 35 year old pregnant woman undergoes routine pregnancy screening blood tests and is found to have an elevated alpha-fetoprotein level. This prompts investigation with ultrasound scanning. The scan reveals a fetus with an anterior abdominal wall defect and mass protruding through, which appears to still be covered with an amniotic sac. What is the standard course of action for managing this condition, based on the probable diagnosis?
Your Answer: Caesarian section and staged repair
Explanation:If a fetus is diagnosed with exomphalos, a caesarean section is recommended to lower the risk of sac rupture. Elevated levels of alpha-fetoprotein may indicate abdominal wall defects. The appropriate course of action is a caesarian section with staged repair, as this reduces the risk of sac rupture and surgery is not urgent. Immediate repair during caesarian section would only be necessary if the sac had ruptured. Vaginal delivery with immediate repair is only recommended for gastroschisis, as immediate surgery is required due to the lack of a protective sac. Therefore, the other two options are incorrect.
Gastroschisis and exomphalos are both types of congenital visceral malformations. Gastroschisis refers to a defect in the anterior abdominal wall located just beside the umbilical cord. In contrast, exomphalos, also known as omphalocele, involves the protrusion of abdominal contents through the anterior abdominal wall, which are covered by an amniotic sac formed by amniotic membrane and peritoneum.
When it comes to managing gastroschisis, vaginal delivery may be attempted, but newborns should be taken to the operating theatre as soon as possible after delivery, ideally within four hours. As for exomphalos, a caesarean section is recommended to reduce the risk of sac rupture. In cases where primary closure is difficult due to lack of space or high intra-abdominal pressure, a staged repair may be undertaken. This involves allowing the sac to granulate and epithelialise over several weeks or months, forming a shell. As the infant grows, the sac contents will eventually fit within the abdominal cavity, at which point the shell can be removed and the abdomen closed.
Overall, both gastroschisis and exomphalos require careful management to ensure the best possible outcome for the newborn. By understanding the differences between these two conditions and the appropriate steps to take, healthcare professionals can provide effective care and support to both the infant and their family.
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This question is part of the following fields:
- Paediatrics
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