118F (2024)

118F1
Which of the following represents universal design?

a. Sign language interpretation
b. Electric wheelchair
c. Tactile paving (Braille blocks)
d. Parking spaces for people with disabilities
e. Platform screen doors (fall prevention barriers)

 

The correct answer is e. Platform screen doors (fall prevention barriers).

  • Universal design refers to designing environments, products, and services that are accessible and usable by everyone, regardless of age, ability, or other factors, without the need for specialized adaptations.
  • Platform screen doors fit this principle as they enhance safety for all passengers by preventing falls and accidents on train platforms. They are not limited to specific user groups but benefit everyone equally, including children, elderly individuals, and people with disabilities.

118F2
Which of the following is a late reaction (effect) of radiation's physical impact?

a. Hair loss
b. Cataracts
c. Ataxia (lack of coordination)
d. Seizures
e. Skin erythema (redness)

 

The correct answer is b. Cataracts.

  • Cataracts develop due to radiation damage to the lens of the eye, leading to clouding and eventual loss of transparency. This process takes time to manifest, making it a classic example of a late effect of radiation.
  • The other symptoms often occur shortly after high radiation doses.

118F3
Which of the following is incorrect in the examination of a patient suspected of having a pelvic injury?

a. Check for blood pressure changes.
b. Check for differences in leg length.
c. Check for bruising around the pelvic area.
d. Check for bleeding from the external urethral opening.
e. Check for back injuries by placing the patient in a lateral decubitus position.

 

The correct answer is e. Check for back injuries by placing the patient in a lateral decubitus position.

  • When a pelvic injury is suspected, the patient should be handled with extreme care to avoid further displacement of pelvic fractures or aggravating internal injuries. Moving the patient into a lateral decubitus position can worsen the injury, disrupt clots, or exacerbate internal bleeding.
  • Check for blood pressure changes is important to identify signs of hemorrhagic shock, which is common in pelvic trauma.
  • Check for differences in leg length may indicate pelvic fractures or dislocations.
  • Check for bruising around the pelvic area provides clues about the location and severity of the trauma.
  • Check for bleeding from the external urethral opening suggests possible urogenital injury, which is often associated with pelvic fractures.

118F6
Which of the following pairings of disease and treatment is correct?

a. Renal anemia – Glucocorticoid
b. Pure red cell aplasia – Cyclosporine
c. Megaloblastic anemia – Erythropoietin
d. Anemia of chronic inflammation – Iron supplements
e. Autoimmune hemolytic anemia – Gamma globulin

 

The correct answer is b. Pure red cell aplasia – Cyclosporine.

  • Pure red cell aplasia (PRCA) is often associated with an immune-mediated suppression of red blood cell precursors in the bone marrow. Cyclosporine, an immunosuppressive medication, is used to treat this condition by modulating the immune system and preventing the immune-mediated destruction of red blood cell precursors.
  • Renal anemia is caused by a lack of erythropoietin production due to kidney dysfunction. The correct treatment is erythropoietin-stimulating agents (ESAs), not glucocorticoids.
  • Megaloblastic anemia is typically caused by a deficiency of vitamin B12 or folic acid, and the treatment involves supplementing these vitamins, not erythropoietin.
  • In anemia of chronic inflammation, iron is often sequestered in storage and unavailable for red blood cell production. Treatment focuses on addressing the underlying inflammation, and iron supplementation is usually ineffective unless there is a concurrent iron deficiency.
  • Autoimmune hemolytic anemia (AIHA) is typically treated with corticosteroids as the first-line therapy. Intravenous gamma globulin (IVIG) is sometimes used but is not the primary treatment.

118F7

The following illustrates the steps for removing gloves as part of personal protective equipment. Which step is incorrect?

a. Grasp the surface of the opposite glove with the gloved hand.
b. Remove the glove so that the outside is turned inside.
c. Hold the removed glove with the gloved hand.
d. Grasp the surface of the opposite glove with the bare hand.
e. Insert the bare hand into the inside of the opposite glove to remove it.

The answer is d. Grasp the surface of the opposite glove with the bare hand.

  • When removing gloves, the process is designed to avoid contamination of the skin by touching the contaminated outer surfaces of the gloves. Using a bare hand to touch the outside of a contaminated glove increases the risk of transferring pathogens to the skin.
  • Grasp the surface of the opposite glove with the gloved hand. This ensures that only the glove comes into contact with the contaminated surface.
  • Remove the glove so that the outside is turned inside out. This contains the contamination inside the glove.
  • Hold the removed glove with the gloved hand. This keeps the contaminated glove in one place without spreading pathogens.
  • Insert the bare hand into the inside of the opposite glove to remove it. This ensures that the bare hand only touches the clean inside surface of the second glove.

118F11
Which of the following pairings between a drug administered to the mother and its effect on the child is correct?

a. Angiotensin-converting enzyme (ACE) inhibitors – Polyhydramnios
b. Inhaled corticosteroids – Preterm birth
c. Misoprostol – Brain hemorrhage
d. Indomethacin – Ductus arteriosus constriction
e. Minocycline – Hydronephrosis

 

The correct answer is d. Indomethacin – Ductus arteriosus constriction.

  • Indomethacin, a nonsteroidal anti-inflammatory drug (NSAID), is known to cause constriction of the ductus arteriosus in the fetus. This effect is due to the inhibition of prostaglandin synthesis, which is critical for keeping the ductus arteriosus open during fetal life.
  • ACE inhibitors are actually associated with oligohydramnios (low amniotic fluid levels) due to impaired fetal renal function.
  • Inhaled corticosteroids are generally considered safe during pregnancy and are not known to directly cause preterm birth.
  • Misoprostol is associated with uterine contractions and is used for medical abortion or labor induction. While it can lead to complications such as uterine rupture.
  • Minocycline, a tetracycline antibiotic, is known to cause fetal teeth discoloration and bone growth retardation when used during pregnancy.

118F12
What is the typical duration of the second stage of labor for a multiparous woman with a normal labor progression?

a. 60 minutes or less
b. 61–120 minutes
c. 121–180 minutes
d. 181–240 minutes
e. 241 minutes or more

 

The correct answer is a. 60 minutes or less.

  • The second stage of labor begins when the cervix is fully dilated (10 cm) and ends with the delivery of the baby.
  • On average, the second stage of labor lasts about 20–60 minutes for multiparous women with normal labor progression.
  • The muscles and tissues involved in labor are often more flexible due to prior births, which can shorten the pushing phase.
  • For nulliparous women, the second stage of labor may take longer, often up to 2–3 hours, depending on various factors.

118F13
Which of the following increases cardiac output in a normal heart?

a. Decrease in afterload
b. Decrease in heart rate
c. Decrease in preload
d. Decrease in coronary blood flow
e. Decrease in thyroid function

 

The correct answer is a. Decrease in afterload.

  • Afterload refers to the force or resistance the ventricles must overcome to eject blood into the aorta or pulmonary artery. A decrease in afterload reduces the workload on the heart, allowing it to pump a greater stroke volume with less effort, thus increasing overall cardiac output.
  • A lower heart rate typically decreases cardiac output unless it is compensated by a significant increase in stroke volume (e.g., in athletes).
  • Preload is the stretch of the heart muscles at the end of diastole. A decrease in preload reduces stroke volume, leading to a decrease in cardiac output.
  • Reduced coronary blood flow can impair myocardial function, decreasing stroke volume and cardiac output.
  • Low thyroid function (hypothyroidism) reduces the metabolic rate, heart rate, and contractility, which in turn decreases cardiac output.

118F17
Which of the following causes marked splenomegaly?

a. Multiple myeloma
b. Acute myeloid leukemia
c. Chronic myeloid leukemia
d. Acute lymphoblastic leukemia
e. Adult T-cell leukemia/lymphoma

 

The correct answer is c. Chronic myeloid leukemia (CML).

  •  In CML, the abnormal proliferation of myeloid cells leads to their accumulation in the bone marrow, blood, and extramedullary tissues, particularly the spleen. This overproduction causes the spleen to enlarge significantly as it works to filter the excess abnormal cells.

118F21
Which of the following increases in elderly individuals?

a. Bone mass
b. Pulse pressure
c. Vital capacity
d. Cardiac diastolic function
e. Glomerular filtration rate (GFR)

 

The correct answer is b. Pulse pressure.

  • Pulse pressure (PP) is the difference between systolic and diastolic blood pressure.
  • Systolic blood pressure increases due to stiffening and decreased elasticity of the arteries (arteriosclerosis), which makes the arteries less able to buffer the pressure during systole.
  • Diastolic blood pressure may decrease or remain stable because the stiffened arteries reduce the ability to maintain pressure during diastole.
  • Pulse pressure is the only parameter in this list that increases with age.

118F22
Which artificial organ does not require mandatory anticoagulant therapy?

a. ECMO (Extracorporeal Membrane Oxygenation)
b. Cardiopulmonary bypass machine
c. Artificial valve (mechanical valve)
d. Implantable pacemaker
e. Implantable ventricular assist device (VAD)

 

The correct answer is d. Implantable pacemaker.

  • Anticoagulation is not required for an implantable pacemaker because it does not interface with blood flow or have thrombogenic components. This differentiates it from other artificial devices listed.

118F23
Which statistical method is used to compare the mean blood pressure between two groups?

a. t-test
b. χ² test (chi-square test)
c. Survival analysis
d. Proportional hazards model
e. Logistic regression

 

The correct answer is a. t-test.

  • The t-test is appropriate when comparing the means of two groups, assuming the data is approximately normally distributed and the variances are equal or can be adjusted for.
  • The χ² test (chi-square test) is used for categorical data to assess the association between two variables.
  • The survival analysis is used to analyze time-to-event data (e.g., time to recovery or death).
  • The proportional hazards model is a regression model used in survival analysis to evaluate the relationship between predictors and the hazard rate.
  • Logistic regression is used for modeling binary outcome variables (e.g., presence or absence of disease).

118F24
Which of the following developmental milestones in infants, used as a guideline for starting weaning, is incorrect?

a. Can sit for more than 5 seconds.
b. Shows interest in food.
c. Has multiple molars.
d. Has good neck control.
e. Does not resist a spoon being placed in their mouth.

 

The answer is c. Has multiple molars.

  • Weaning typically begins around 4–6 months of age, when an infant starts transitioning from milk (breastmilk or formula) to solid foods.
  • Molars (back teeth used for grinding) typically begin to emerge between 12 and 18 months of age. They are not required for starting weaning, as early solid foods are typically soft or pureed and do not require chewing.

118F25
Which of the following is not a sensory perception disorder?

a. Olfactory hallucination
b. Visual hallucination
c. Thought sonorization (thought echo)
d. Somatic hallucination
e. Loosening of associations

 

The answer is e. Loosening of associations.

  • A sensory perception disorder involves abnormal experiences or misinterpretations of sensory stimuli. Hallucinations, for example, are false sensory perceptions that occur without external stimuli and are classified as sensory perception disorders.
  • Loosening of associations is a thought disorder characterized by disorganized thinking, where ideas and concepts become incoherent or unrelated. It does not involve the senses and is instead related to cognitive processes.

118F26
Which of the following does not become obstructed when pressure is applied to the neck?

a. Trachea
b. External jugular vein
c. Common carotid artery
d. Internal jugular vein
e. Brachiocephalic artery

 

The answer is e. Brachiocephalic artery.

  • Brachiocephalic artery is located deeper in the upper chest and runs from the aortic arch before branching into the right subclavian and right common carotid arteries.

118F28
Which of the following is not included in the 2030 Agenda for Sustainable Development (SDGs)?

a. Eradication of poverty
b. Reduction of inequalities
c. Promotion of telemedicine
d. Gender equality
e. Response to climate change

 

The answer is c. Promotion of telemedicine.

  • The 2030 Agenda for Sustainable Development includes 17 Sustainable Development Goals (SDGs) with specific targets addressing global challenges.
  • Telemedicine is a means or tool that can support achieving several SDGs, especially Goal 3: Good Health and Well-being, by improving access to healthcare in underserved areas. However, it is not explicitly mentioned as a specific goal or target in the SDG framework.

118F29
Which of the following is incorrect regarding the action of insulin?

a. Suppression of gluconeogenesis in the liver
b. Promotion of glycogen synthesis in the liver
c. Promotion of triglyceride breakdown in fat cells
d. Promotion of amino acid uptake in skeletal muscle
e. Promotion of glucose uptake in skeletal muscle

 

The answer is c. Promotion of triglyceride breakdown in fat cells.

  • Insulin is an anabolic hormone that primarily promotes storage and synthesis processes in the body, while inhibiting catabolic processes like lipolysis and gluconeogenesis.

118F32
Which of the following diseases cause diplopia (double vision)? Select two.

a. Optic neuritis
b. Thyroid eye disease
c. Trochlear nerve palsy
d. Facial nerve palsy
e. Horner syndrome

 

The correct answers are b. Thyroid eye disease and c. Trochlear nerve palsy.

  • Thyroid eye disease (Graves' orbitopathy) involves inflammation and swelling of the extraocular muscles, often caused by autoimmune processes associated with hyperthyroidism. The swelling and dysfunction of the muscles can lead to restricted eye movement, causing misalignment and diplopia.
  • The trochlear nerve controls the superior oblique muscle, which is responsible for downward and inward eye movement. Trochlear nerve palsy (Cranial Nerve IV Palsy) results in weakened superior oblique muscle function, leading to vertical misalignment of the eyes.
  • Optic neuritis affects the optic nerve and causes visual loss or disturbances like blurred vision.
  • Facial nerve palsy affects the muscles of facial expression.
  • Horner syndrome affects sympathetic nerve pathways, leading to ptosis, miosis, and anhidrosis.

118F34
Which of the following conditions is likely to cause hypocomplementemia (low complement levels)? Select two.

a. Gastric cancer
b. Liver failure
c. Behçet's disease
d. Nontuberculous mycobacteriosis
e. Systemic lupus erythematosus (SLE)

 

The correct answers are b. Liver failure and e. Systemic lupus erythematosus (SLE).

  • The liver is the primary site of synthesis for most complement proteins, including C3 and C4. In liver failure, the production of complement proteins decreases due to impaired hepatic function, leading to low complement levels (hypocomplementemia).
  • SLE is an autoimmune disease where immune complexes are formed and deposited in tissues, leading to inflammation. These immune complexes activate the complement system, consuming complement proteins (C3, C4).

118F37

A 4-year-old girl is brought to the clinic by her mother with wheezing as the main complaint and she has had a cough and mild wheezing since the evening and ate only a small amount of dinner but before going to bed her cough and wheezing worsened which prevented her from sleeping and her mother reports she has experienced similar episodes in the past although this time is described as the most severe and she is conscious with a height of 100 cm and weight of 18 kg and her vital signs show a body temperature of 36.4°C pulse 140 per minute regular blood pressure 84/56 mmHg respiratory rate 48 per minute and SpO₂ at 93% on room air and her appearance shows lethargy and pale complexion but no cyanosis of the lips and auscultation of the chest reveals bilateral wheezes and the abdomen is flat and soft and intercostal and suprasternal retractions are observed and the child can speak in broken sentences and a chest X-ray shows hyperinflation of the lungs

Which of the following is observed in this patient?

a. Hoarseness
b. Prolonged expiration
c. Barking cough
d. Apneic episodes
e. Reprise (gasping inspiration after coughing)

 

The correct answer is b. Prolonged expiration.

  • Wheezing and retractions is indicative of airway obstruction due to narrowed airways. Hyperinflated lungs on chest X-ray suggests air trapping, commonly seen in obstructive airway diseases. Increased respiratory rate (48/min) is a sign of respiratory distress.
  • Prolonged expiration is a hallmark of conditions where airflow is obstructed during expiration, such as asthma, leading to difficulty in exhaling air completely.
  • Hoarseness is typically associated with laryngeal involvement or vocal cord issues, not a feature of lower airway obstruction.
  • Barking cough is seen in upper airway conditions like croup, which is characterized by inflammation of the larynx and trachea, not lower airway obstruction.
  • Apneic episodes refers to complete cessation of breathing, which is not described in this patient who maintains active, albeit distressed, breathing.
  • Reprise (gasping inspiration after coughing) is associated with pertussis (whooping cough), not with obstructive airway diseases.

118F38

An 82-year-old woman presents with shortness of breath for the past few days and she has a history of chronic respiratory failure due to sequelae of pulmonary tuberculosis and is on home oxygen therapy via nasal cannula at 0.5 L/min and during her routine follow-up 3 weeks ago her SpO₂ was recorded at 92% with the same oxygen therapy settings and she reports no fever and produces a small amount of sputum and on examination she is conscious with a body temperature of 36.2°C a regular pulse of 96 beats per minute blood pressure of 130/88 mmHg respiratory rate of 24 breaths per minute and SpO₂ at 86% on oxygen therapy via nasal cannula at 0.5 L/min and auscultation of her chest reveals coarse crackles bilaterally and lower extremity edema is present and arterial blood gas analysis on oxygen therapy via nasal cannula at 0.5 L/min shows a pH of 7.32 a PaCO₂ of 60 Torr a PaO₂ of 55 Torr and HCO₃⁻ of 30 mEq/L

Which treatment should be initiated next?

a. Endotracheal intubation
b. Noninvasive positive pressure ventilation (NPPV)
c. Inhalation of short-acting β2 agonists
d. Intravenous glucocorticoids
e. Oxygen therapy via reservoir mask at 10 L/min

 

The correct answer is b. Noninvasive positive pressure ventilation (NPPV).

  • This patient’s acute-on-chronic respiratory failure with hypercapnia and hypoxemia is best managed initially with noninvasive positive pressure ventilation (NPPV) to improve ventilation and avoid the risks associated with intubation.

118F40
A 74-year-old woman visits the clinic with a chief complaint of a rash on the tip of her nose. She has had this rash for 20 years, and it has gradually become raised over time. A photograph of her face is shown. A biopsy of the lesion revealed a pathological diagnosis of squamous cell carcinoma (SCC).

What is the most likely cause?

a. Alcohol consumption
b. Obesity
c. Ultraviolet radiation
d. Asbestos
e. Epstein-Barr virus (EBV)

The correct answer is c. Ultraviolet radiation.

  • Ultraviolet radiation is the most common cause of squamous cell carcinoma (SCC), particularly on sun-exposed areas of the skin like the nose.

118F41

A 14-day-old girl is brought to the emergency department at night by her parents because of a fever that started in the evening and she appears lethargic and is exclusively breastfed but her feeding has decreased and her temperature is 38.8°C with a pulse of 160 beats per minute a respiratory rate of 60 breaths per minute and an SpO₂ of 98% on room air and on physical examination no abnormalities are noted in her heart sounds or breath sounds and her abdomen is flat and soft with no palpable liver or spleen and her anterior fontanelle is open and mildly bulging

What is the appropriate explanation to give the parents?

a. "Let’s monitor her until tomorrow."
b. "Let’s start her on oral antibiotics."
c. "She needs to be hospitalized for treatment."
d. "Cool her axillary and groin areas."
e. "Switch her from breastfeeding to formula feeding."

 

The correct answer is c. ("She needs to be hospitalized for treatment.").

  • A temperature of 38.8°C in a 14-day-old is a red flag for a potential serious bacterial infection (SBI), as neonates have immature immune systems and are highly susceptible to invasive infections.
  • Lethargy and reduced feeding further raise concern for SBI, including sepsis, meningitis, or urinary tract infection.
  • Bulging anterior fontanelle can indicate increased intracranial pressure, raising suspicion for meningitis.
  • A neonate with fever must undergo a thorough evaluation, including blood cultures, a lumbar puncture (for cerebrospinal fluid analysis), urine cultures, and possibly chest X-rays.
  • Broad-spectrum intravenous antibiotics (e.g., ampicillin and gentamicin or cefotaxime) are required to treat potential bacterial infections.
  • Neonates with suspected sepsis or meningitis need continuous monitoring in a hospital for changes in clinical status and response to treatment.

118F43

A 50-year-old woman has been experiencing occasional headaches for the past three months and she started noticing blurred vision in both eyes one month ago which prompted her to seek medical attention and her pulse is 72 beats per minute and regular and her blood pressure is 118/62 mmHg and the examination of both eyes reveals no abnormalities in the anterior segment intermediate media or intraocular pressure and her visual acuity is 0.9 in the right eye and 1.0 in the left eye and both are not correctable and a fundus photograph of the right eye is shown with the left eye presenting a similar appearance

What is the most likely diagnosis?

a. Optic neuritis
b. Papilledema
c. Ischemic optic neuropathy
d. Normal-tension glaucoma
e. Retinal artery occlusion

The correct answer is b. Papilledema.

  • The patient’s history of headaches, bilateral blurred vision, and optic disc swelling on fundus examination is classic for papilledema.
  • Optic neuritis is typically unilateral, often associated with pain during eye movement, and presents with reduced color vision. Fundus findings may show optic disc pallor but not the typical swelling seen in papilledema.
  • Ischemic optic neuropathy is usually unilateral in presentation and associated with sudden vision loss, often due to vascular conditions like giant cell arteritis or hypertension.
  • Normal-tension glaucoma is a progressive optic neuropathy associated with normal intraocular pressure. It causes optic disc cupping rather than swelling.
  • Retinal artery occlusion presents with sudden, painless monocular vision loss and a pale retina with a cherry-red spot.

118F44
A 38-year-old woman presents with dizziness and headaches as her chief complaints. Two months ago, she renovated the interior of her home. Since the renovation, she has noticed dizziness and headaches whenever she returns home. She reports that her symptoms improve on sunny days when the windows are open, but worsen on rainy days.

Which chemical substance is most likely causing her symptoms?

a. Ozone
b. Ethanol
c. Nitrogen dioxide
d. Freon gas
e. Formaldehyde

 

The correct answer is e. Formaldehyde.

  • The temporal association with renovation, symptom patterns linked to ventilation, and the common use of formaldehyde-containing materials in construction make formaldehyde the most likely cause of the patient’s symptoms.
  • Ozone is typically associated with outdoor air pollution or photocopiers in enclosed spaces.
  • Ethanol is found in cleaning products.
  • Nitrogen dioxide is usually linked to combustion sources like stoves or vehicle emissions.
  • Freon gas is used in refrigeration and air conditioning systems.

118F46

A 48-year-old woman visits the clinic for a routine check-up and she was diagnosed with diabetes 20 years ago and diabetic nephropathy 5 years ago and has been following up at a local clinic near her home and her height is 154 cm and her weight is 52 kg which has remained unchanged over the past year and her pulse is 60 beats per minute and regular and her blood pressure is 132/72 mmHg and her physical examination reveals normal heart and breath sounds with mild pitting edema in both lower legs and bilaterally absent Achilles tendon reflexes and her urine test shows protein (+++), glucose (+), and no occult blood and her blood test results include red blood cells at 3.49 million/µL hemoglobin at 11.3 g/dL hematocrit at 36% total protein at 5.3 g/dL albumin at 3.0 g/dL blood urea nitrogen at 47 mg/dL creatinine at 2.8 mg/dL eGFR at 15.3 mL/min/1.73 m² uric acid at 6.0 mg/dL blood glucose at 97 mg/dL HbA1c at 6.4% sodium at 132 mEq/L potassium at 5.8 mEq/L and chloride at 107 mEq/L and she drinks 1.5 liters of water daily with a 24-hour urine collection test showing estimated daily intake of 5.8 g of salt 30 g of protein and 3,500 mg of potassium

What should be restricted in this patient’s diet?

a. Salt
b. Water
c. Protein
d. Potassium
e. Calories

 

The correct answer is d. Potassium.

  • The patient has hyperkalemia (elevated potassium levels), which is a significant concern in the context of advanced diabetic nephropathy and reduced kidney function.

118F47

A 3-day-old male infant was transported to the neonatal unit due to a swelling on his head and he was born at 39 weeks of gestation weighing 3,120 g through spontaneous vaginal delivery in a cephalic presentation without signs of asphyxia and a swelling on the head was noted immediately after birth and the swelling increased in size accompanied by jaundice and anemia which progressively worsened prompting his transfer to a higher-level facility and the infant is alert with a height of 51.0 cm and a weight of 3,080 g and his temperature is 37.0°C with a heart rate of 140 beats per minute regular blood pressure of 86/56 mmHg respiratory rate of 32 breaths per minute and SpO₂ of 98% on room air and the clinical examination reveals lethargy pale complexion and a soft swelling measuring 5 cm bilaterally in the parietotemporal regions with no bulging of the anterior fontanelle and anemia is observed in the palpebral conjunctiva and mild jaundice is noted in the scleral conjunctiva while no abnormalities are detected in heart or breath sounds and the abdomen is flat and soft with no palpable liver or spleen and hematological findings include red blood cell count of 2.33 million/µL hemoglobin of 8.2 g/dL hematocrit of 23% white blood cell count of 14,400/µL platelet count of 280,000/µL normal bleeding time PT-INR of 1.0 activated partial thromboplastin time of 90 seconds and fibrinogen of 322 mg/dL while biochemistry results show total bilirubin of 16.2 mg/dL direct bilirubin of 0.1 mg/dL AST of 45 U/L ALT of 12 U/L and LD of 430 U/L and the infant is the second child with a 3-year-old sister and the parents are not consanguineous each having one younger brother

Who is most likely to have the same condition as this patient?

a. Father
b. Mother
c. Sister
d. Father’s brother
e. Mother’s brother

 

The correct answer is e. Mother’s brother.

  • Many coagulation disorders (elevated APTT), including hemophilia A (Factor VIII deficiency) and hemophilia B (Factor IX deficiency), are inherited in an X-linked recessive manner.
  • In X-linked disorders, males are affected because they have only one X chromosome, which carries the mutation.
  • Females are typically carriers, as they have two X chromosomes, with one compensating for the mutated gene.

END