FMGE 2018 - Internal Medicine Practice Questions

Q: Which pattern of inheritance of disease is associated with consanguinity?

Autosomal recessive. ***Autosomal recessive*** - Consanguineous relationships increase the likelihood of offspring inheriting **two copies of a rare deleterious recessive allele**, one from each parent [1]. - This occurs because relatives share a greater proportion of their genes, making it more probable that both parents are **heterozygous carriers** for the same recessive disorder. *Autosomal dominant* - In autosomal dominant disorders, only **one copy of the altered gene** is needed to cause the disease, so expression is not typically influenced by consanguinity. - These conditions often manifest in every generation and are not more prevalent with increased shared genetic material. *X-linked recessive* - X-linked recessive disorders primarily affect males, as they only have one X chromosome, and are transmitted by carrier females. - While consanguinity can theoretically increase the carrier rate within a population, its direct impact on the inheritance pattern of an X-linked trait in a single family is less pronounced compared to autosomal recessive conditions. *X-linked dominant* - X-linked dominant disorders are expressed in heterozygous females and hemizygous males, with affected males often having more severe disease. - The inheritance pattern is not significantly influenced by consanguinity, as only one copy of the affected gene on the X chromosome is sufficient for disease manifestation.

Q: Commonest neurological tumour associated with NF-2:-

Acoustic neuroma. ***Acoustic neuroma*** - **Bilateral acoustic neuromas** (vestibular schwannomas) are the hallmark of **Neurofibromatosis type 2 (NF2)**, virtually diagnostic for the condition [1]. - These tumors arise from the **vestibulocochlear nerve (cranial nerve VIII)** and commonly cause hearing loss and balance problems [1]. *Optic glioma* - **Optic gliomas** are more characteristic of **Neurofibromatosis type 1 (NF1)**, not NF2. - While they can occur in NF2, they are not the most common or diagnostic feature. *Spinal schwannoma* - Spinal schwannomas can occur in NF2, but they are not the *most common* or *defining* neurological tumor associated with the condition. - The presence of multiple schwannomas, especially spinal, is a feature, but **bilateral acoustic neuromas** take precedence for diagnosis. *Meningioma* - Multiple **meningiomas** occur in a significant proportion of NF2 patients, making them common, but they are still secondary to **bilateral acoustic neuromas** in terms of diagnostic significance and prevalence as the *primary* neurological tumor. - These are tumors of the **meninges**, the protective layers surrounding the brain and spinal cord.

Q: Continuous murmur is heard in?

Patent ductus arteriosus. ***Patent ductus arteriosus*** - A **continuous murmur** in PDA is often described as a **"machinery-like" murmur**, audible throughout systole and diastole [1]. - This murmur is caused by the continuous flow of blood from the higher-pressure aorta into the lower-pressure pulmonary artery [1]. *Tetralogy of Fallot* - The murmur associated with Tetralogy of Fallot is typically a **systolic ejection murmur** heard at the upper left sternal border [1]. - This murmur is due to pulmonary stenosis and is not continuous, as it is related to ventricular ejection [1]. *Ventricular septal defect* - A VSD typically presents with a **holosystolic murmur**, meaning it is heard throughout systole [1]. - The murmur in VSD is confined to systole and does not extend into diastole, distinguishing it from a continuous murmur [1]. *Atrial septal defect* - An ASD is typically associated with a **systolic ejection murmur** over the pulmonic area due to increased flow across the pulmonary valve [1]. - There may also be a **diastolic rumble** across the tricuspid valve, but neither of these is a continuous murmur [1].

Q: Gold standard method of diagnosing celiac disease is

Small bowel biopsy. ***Small bowel biopsy*** - A **small bowel biopsy** is considered the **gold standard** for diagnosing celiac disease as it directly visualizes the characteristic damage to the intestinal lining. - The biopsy reveals histologic changes like **villous atrophy**, crypt hyperplasia, and increased intraepithelial lymphocytes, which are pathognomonic for celiac disease [1]. *Blood picture* - A blood picture (complete blood count) might show **anemia** (often iron-deficiency anemia) due to malabsorption, but this is a non-specific finding and not diagnostic for celiac disease [1]. - It does not provide direct evidence of intestinal damage caused by gluten. *Anti-endomysial antibodies* - **Anti-endomysial antibodies (EMA)** are highly specific for celiac disease, but they are still a serological test, not the definitive diagnostic method. - Serological tests like EMA and **tissue transglutaminase (tTG) antibodies** are used for screening and monitoring but require biopsy confirmation. *Biochemical test* - Biochemical tests might show abnormalities related to **malabsorption**, such as low iron, calcium, or vitamin D levels, but these are secondary effects and not diagnostic of celiac disease itself [1]. - These tests indicate nutritional deficiencies but do not identify the underlying cause.

Q: Oliguria is defined as:-

Less than 400 ml of urine excreted in a day. ***Less than 400 ml of urine excreted in a day*** - Oliguria is clinically defined as **urine production** of less than **400-500 mL per 24 hours** in adults. - This reduction in urine output is often a critical sign of acute kidney injury or other underlying medical conditions impacting **renal function**. *More than 900 ml of urine excreted in a day* - This volume is within the normal range of **daily urine output** for an adult, which is typically between **800 mL and 2000 mL**. - It does not represent oliguria, which indicates a significantly **decreased urine production**. *Absence of urine production* - The complete absence of urine production is known as **anuria**, which is a more severe condition than oliguria. - Anuria is typically defined as less than **50 mL of urine per 24 hours**. *600 ml to 700 ml of urine excreted in a day* - While this volume is below the typical average, it does not meet the strict clinical definition of oliguria, which is typically set at **less than 400-500 mL/day**. - This range might be considered **borderline decreased** but is not severe enough to be classified as oliguric by most standards.

Q: All are true about Allergic Bronchopulmonary Aspergillosis (ABPA) except?

Distal bronchiectasis. ***Distal bronchiectasis*** - This statement is incorrect as ABPA typically causes **central bronchiectasis**, affecting the proximal airways. - The inflammatory response to *Aspergillus* in ABPA mainly targets larger airways, leading to their dilation. *Serum precipitins to Aspergillus* - The presence of **serum precipitins** (IgG antibodies) against *Aspergillus* antigens is a major diagnostic criterion for ABPA. - This indicates a significant immune response to the fungus, which is characteristic of the disease. *Increased IgE Levels* - **Elevated serum total IgE levels** are a hallmark of ABPA, reflecting the allergic hypersensitivity reaction [1]. - This is a key diagnostic criterion, with levels often exceeding 1000 IU/mL. *Seen in asthmatics* - ABPA is predominantly seen in patients with **asthma** (and less commonly, cystic fibrosis), as an exacerbation or complication [1]. - The fungus *Aspergillus* colonizes the airways, triggering an allergic inflammatory response in susceptible individuals.

Q: All the following are feature of polycystic disease of kidneys except:-

Erythrocytosis. Polycystic kidney disease (PKD) is an autosomal dominant condition where multiple cysts enlarge slowly, compressing and damaging surrounding kidney tissue [1]. ***Erythrocytosis*** - **Polycystic kidney disease (PKD)** typically leads to **anemia** due to reduced erythropoietin production by the damaged kidneys [2]. - **Erythrocytosis** (an abnormally high red blood cell count) is not a common feature of PKD; it is more often associated with conditions like **renal cell carcinoma** or certain chronic hypoxic states. *Renal failure* - **Progressive cyst growth** in PKD eventually destroys functional kidney tissue, leading to a decline in renal function and often culminating in **end-stage renal disease**, which occurs in about 50% of PKD1 patients [1]. - **Renal failure** is a common and serious complication of PKD, necessitating dialysis or kidney transplantation. *Hematuria* - **Cysts in PKD** can rupture into the collecting system, leading to **gross hematuria** (visible blood in urine) or microscopic hematuria [1]. - Trauma to the flank or infection within a cyst can trigger an episode of **hematuria** [1]. *Hypertension* - **Hypertension** is a very common early manifestation of PKD, often preceding any significant decline in glomerular filtration rate. - It results from activation of the **renin-angiotensin-aldosterone system (RAAS)** due to renal ischemia caused by cyst enlargement [1].

Q: Which of the following is not a component of Jones criteria for diagnosing acute rheumatic fever?

Erythema nodosum. ***Erythema nodosum*** - **Erythema nodosum** is a delayed hypersensitivity reaction characterized by tender, red nodules, typically on the shins, but it is **not a major or minor criterion** in the Jones criteria for acute rheumatic fever. - While it can be associated with various inflammatory conditions, including streptococcal infections, its presence alone does not establish a diagnosis of **acute rheumatic fever (ARF)**. *Sydenham chorea* - **Sydenham chorea** is a major manifestation of ARF, characterized by involuntary, purposeless movements, and it is a key diagnostic criterion [1]. - It results from central nervous system involvement due to **autoimmune reaction** against basal ganglia. *Pancarditis* - **Pancarditis** (inflammation of all layers of the heart) is a major criterion for ARF, often leading to valvular damage, especially mitral stenosis [1]. - It can manifest as **pericarditis**, **myocarditis**, or **endocarditis** [1]. *Migratory polyarthritis* - **Migratory polyarthritis** is a major criterion for ARF, involving painful inflammation that moves from one joint to another. - It typically affects large joints such as the **knees, ankles, elbows, and wrists**.

Q: Which is the primary organ involved in Goodpasture syndrome?

Kidney. Kidney - Goodpasture syndrome is an autoimmune disease primarily characterized by the production of antibodies against the alpha-3 chain of type IV collagen in the glomerular basement membrane (GBM) and alveolar basement membrane [1]. - This leads to rapidly progressive glomerulonephritis and pulmonary hemorrhage, making the kidneys and lungs the main affected organs, with the kidneys being the primary and universally involved organ [1]. Adrenals - The adrenal glands are not directly involved in the pathogenesis or primary pathology of Goodpasture syndrome. - Conditions like Addison's disease or Cushing's syndrome affect the adrenals, which are distinct from Goodpasture syndrome. Liver - The liver is not a target organ for the antibodies involved in Goodpasture syndrome. - Diseases like autoimmune hepatitis or primary biliary cholangitis primarily affect the liver. Brain - The brain is not affected by the specific autoantibodies targeting type IV collagen in Goodpasture syndrome. - Neurological conditions such as vasculitis of the central nervous system or multiple sclerosis involve the brain.

Q: Primary osteoarthritis affects all except:

Metacarpophalangeal joint. ***Metacarpophalangeal joint*** - The **metacarpophalangeal (MCP) joints** are typically spared in primary osteoarthritis, making their involvement a less common presentation. - Involvement of the MCP joints, particularly with significant inflammation, might suggest other conditions like **rheumatoid arthritis**. *Hip Joint* - The hip joint is a common site for primary osteoarthritis due to its **weight-bearing function** and susceptibility to mechanical stress. - Patients often experience **groin pain** and reduced range of motion, particularly internal rotation. *Distal interphalangeal joint* - The **distal interphalangeal (DIP) joints** are very commonly affected in primary osteoarthritis, leading to the formation of **Heberden's nodes**. - These nodes are bony enlargements that indicate osteophyte formation and cartilage loss. *Knee joint* - The knee joint is another frequently affected large joint in primary osteoarthritis, often presenting with **pain**, **stiffness**, and **crepitus**. - Its **weight-bearing role** contributes significantly to its vulnerability to degenerative changes.

Question 1

Which pattern of inheritance of disease is associated with consanguinity?

Accepted Answer

Autosomal recessive

Answer

Autosomal dominant

Answer

X linked recessive

Answer

X linked dominant

Question 2

Commonest neurological tumour associated with NF-2:-

Accepted Answer

Acoustic neuroma

Answer

Optic glioma

Answer

Meningioma

Answer

Spinal schwannoma

Question 3

Continuous murmur is heard in?

Accepted Answer

Patent ductus arteriosus

Answer

Tetralogy of fallot

Answer

Ventricular septal defect

Answer

Atrial septal defect

Question 4

Gold standard method of diagnosing celiac disease is

Accepted Answer

Small bowel biopsy

Answer

Blood picture

Answer

Anti-endomysial antibodies

Answer

Biochemical test

Question 5

Oliguria is defined as:-

Accepted Answer

Less than 400 ml of urine excreted in a day

Answer

More than 900 ml of urine excreted in a day

Answer

Absence of urine production

Answer

600 ml to 700 ml of urine excreted in a day

Question 6

All are true about Allergic Bronchopulmonary Aspergillosis (ABPA) except?

Accepted Answer

Distal bronchiectasis

Answer

Serum precipitins to Aspergillus

Answer

Increased IgE Levels

Answer

Seen in asthmatics

Question 7

All the following are feature of polycystic disease of kidneys except:-

Accepted Answer

Erythrocytosis

Answer

Renal failure

Answer

Hematuria

Answer

Hypertension

Question 8

Which of the following is not a component of Jones criteria for diagnosing acute rheumatic fever?

Accepted Answer

Erythema nodosum

Answer

Sydenham chorea

Answer

Pancarditis

Answer

Migratory polyarthritis

Question 9

Which is the primary organ involved in Goodpasture syndrome?

Accepted Answer

Kidney

Answer

Adrenals

Answer

Liver

Answer

Brain

Question 10

Primary osteoarthritis affects all except:

Accepted Answer

Metacarpophalangeal joint

Answer

Hip Joint

Answer

Distal interphalangeal joint

Answer

Knee joint

FMGE 2018 — Internal Medicine