Q- A patient with a history of intravenous drug abuse presents with JVD and a holosystolic murmur at the left sternal border.
Which of the following is the best treatment for this patient?
A- Dopamine and observation
B- Morphine and IV beta blockers
C- Treat heart failure and replace the aortic valve
D- Treat heart failure and replace the tricuspid valve
D- Treat heart failure and replace the tricuspid valve- This patient has jugular venous distension (JVD) and a holosystolic murmur at the left sternal border, which are suggestive of tricuspid regurgitation (TR). Given their history of intravenous drug use, infective endocarditis affecting the tricuspid valve is the most likely diagnosis. The first step is to treat heart failure with diuretics, supportive care, and antibiotic therapy to treat the underlying infection. Valve replacement is preferred over repair in severe cases when there is severe regurgitation, persistent infection despite antibiotics, or significant right heart failure.
Q- Which one of the following medications may cause hyperchloremic metabolic acidosis?
A- Acetazolamide
B- Furosemide
C- Hydrochlorothiazide
D- Spironolactone
A- Acetazolamide- It is a carbonic anhydrase inhibitor that acts in the proximal tubule of the kidney. It inhibits bicarbonate (HCO₃⁻) reabsorption, leading to bicarbonate loss in urine and a subsequent hyperchloremic metabolic acidosis (non-anion gap metabolic acidosis).
Q- A 6-month-old girl had slow head growth, truncal discoordination and decreased social interaction.
Which of the following is the most likely diagnosis?
A- Phenylketonuria
B- Rett syndrome
C- Spinal muscular atrophy
D- Tay-Sachs disease
B- Rett Syndrome- It typically manifests in females (it is X-linked dominant) and commonly becomes apparent around 6–18 months of age. One of the hallmark signs of Rett syndrome is a slowing of head growth (leading to a smaller head circumference over time). Infants may show truncal discoordination and loss of purposeful hand movements, often replaced by stereotypic hand-wringing (though the question focuses on truncal discoordination).
After initially normal development, children with Rett syndrome often experience loss of social engagement and regression in language skills.
