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| التاريخ | نمو المشتركين | الإشارات | القنوات | |
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منشورات القناة
| 2 | 29. A 30-year-old pregnant female at 34 weeks gestation presents with persistent right upper quadrant pain, fatigue, and severe nausea. Laboratory tests reveal microangiopathic hemolytic anemia, elevated liver enzymes (AST/ALT > 200 U/L), and a low platelet count (45,000/µL). Peripheral blood smear shows schistocytes and helmet cells. What is the diagnosis?
A. HELLP syndrome
B. Acute fatty liver of pregnancy
C. Thrombotic thrombocytopenic purpura
D. Intrahepatic cholestasis of pregnancy
30. A 20-year-old male presents with acute appendicitis. Histological evaluation of the appendix reveals acute inflammation with dense neutrophilic infiltrates extending into the muscularis propria. Which of the following leukocytic cell adhesion molecules facilitates the tight adhesion/rolling step of neutrophils on endothelium during acute inflammation?
A. Selectins
B. Integrins
C. Immunoglobulins (ICAM-1)
D. Cadherins | 453 |
| 3 | 21. A 4-year-old child presents with a large, asymptomatic abdominal mass discovered by his mother while bathing him. Physical examination reveals a smooth, firm mass in the left flank that does not cross the midline. Urinalysis shows microscopic hematuria, but blood pressure is within normal limits. Histology shows a triphasic pattern consisting of blastemal, stromal, and epithelial elements. What is the diagnosis?
A. Neuroblastoma
B. Wilms tumor
C. Renal cell carcinoma
D. Clear cell sarcoma
22. A 35-year-old male presents with a history of recurrent abdominal pain, bloody diarrhea, and tenesmus for 6 months. Colonoscopy reveals continuous inflammation starting from the rectum and extending proximally into the descending colon, with mucosal erythema, loss of vascular pattern, and pseudopolyps. Biopsy displays mucosal architectural distortion, crypt abscesses, and micro-ulcerations restricted to the mucosa and submucosa without transmural involvement or granulomas. What is the diagnosis?
A. Crohn disease
B. Amebic colitis
C. Ulcerative colitis
D. Ischemic colitis
23. A 68-year-old female presents with painless hematuria for 3 weeks. She has a 40 pack-year smoking history and worked in an aniline dye manufacturing factory for 25 years. Cystoscopy reveals a exophytic, papillary lesion on the posterior wall of the urinary bladder. Histological examination confirms transitional cell carcinoma (urothelial carcinoma). Which of the following is the most important prognostic factor for this malignancy?
A. Tumor size
B. Grade of nuclear atypia
C. Presence of squamous metaplasia
D. Depth of muscularis propria invasion
24. A 52-year-old female presents with persistent itching, fatigue, and mild jaundice. Laboratory tests demonstrate an elevated alkaline phosphatase (ALP) and total bilirubin, with normal ALT/AST. Antimitochondrial antibodies (AMA) are strongly positive in high titers. Liver biopsy demonstrates chronic portal inflammation, granulomatous destruction of interlobular bile ducts, and ductopenia. What is the diagnosis?
A. Primary biliary cholangitis
B. Primary sclerosing cholangitis
C. Autoimmune hepatitis
D. Non-alcoholic steatohepatitis
25. A 50-year-old male presents with a soft tissue mass in his retroperitoneum measuring 12 cm. Surgical resection is performed. Microscopic examination of the tissue demonstrates pleomorphic lipoblasts with hyperchromatic, indented nuclei caused by multiple intracytoplasmic lipid vacuoles, along with atypical stromal cells and abundant vascularity. What is the diagnosis?
A. Lipoma
B. Leiomyosarcoma
C. Liposarcoma
D. Malignant fibrous histiocytoma
26. A 19-year-old male presents with painless enlargement of cervical lymph nodes. Biopsy of a node shows a mixed inflammatory background composed of lymphocytes, plasma cells, eosinophils, and classic Reed-Sternberg cells (large binucleated cells with prominent owl-eye nucleoli). Immunohistochemistry demonstrates positivity for CD15 and CD30. What is the diagnosis?
A. Non-Hodgkin lymphoma
B. Classic Hodgkin lymphoma
C. Infectious mononucleosis
D. Reactive lymphoid hyperplasia
27. A 45-year-old male with long-standing heartburn presents for endoscopic evaluation of gastroesophageal reflux disease. Biopsy from the lower esophagus just proximal to the gastroesophageal junction reveals replacement of normal stratified squamous epithelium by columnar epithelium with goblet cells (intestinal metaplasia). What is the underlying condition?
A. Squamous cell carcinoma
B. Achalasia cardia
C. Esophageal varices
D. Barrett esophagus
28. A 60-year-old male undergoes routine screening colonoscopy, which reveals a 1.5 cm pedunculated polyp in the sigmoid colon. Microscopic evaluation demonstrates branching tubule-glandular structures lined by dysplastic, hyperchromatic columnar epithelium without invasion of the muscularis mucosae. What is the diagnosis?
A. Hyperplastic polyp
B. Juvenile polyp
C. Tubular adenoma
D. Adenocarcinoma | 354 |
| 4 | 14. A 70-year-old male presents with progressive urinary hesitancy, poor stream, post-void dribbling, and nocturia for the past year. Digital rectal examination reveals a smooth, symmetrically enlarged, firm-elastic prostate without distinct nodules. Transrectal ultrasound confirms significant enlargement of the transition zone. Transurethral resection shows hyperplasia of both glandular epithelial elements and fibromuscular stroma without cellular atypia. What is the diagnosis?
A. Prostatic adenocarcinoma
B. Acute bacterial prostatitis
C. Benign prostatic hyperplasia
D. Nodular fasciitis
15. A 40-year-old female presents with a 3-month history of progressive muscle weakness, particularly difficulty rising from a chair and climbing stairs. She also notices a heliotrope rash over her upper eyelids and Gottron papules on her knuckles. Creatine kinase levels are significantly elevated. Muscle biopsy reveals prominent inflammatory infiltrates predominantly localized in the perimysial regions and around blood vessels, along with perifascicular atrophy. What is the diagnosis?
A. Polymyositis
B. Dermatomyositis
C. Inclusion body myositis
D. Myasthenia gravis
16. A 58-year-old male presents with severe retrosternal chest pain radiating to his left arm and jaw, lasting for over 2 hours. Troponin I levels are elevated. Unfortunately, the patient suffers a fatal cardiac arrhythmia 3 days after admission. Autopsy of the heart reveals a pale yellow, softened area of myocardium surrounded by a hyperemic border. Microscopic examination of this area would most likely demonstrate which feature?
A. Dense collagenous scar tissue
B. Contraction band necrosis with early edema
C. Abundant granulation tissue with capillary proliferation
D. Coagulative necrosis with dense neutrophilic infiltrate
17. A 30-year-old male presents with recurrent episodes of gross hematuria that consistently occur 1–2 days after upper respiratory tract infections. He reports no fever, joint pain, or rash. Physical examination is unremarkable, and blood pressure is normal. Urinalysis demonstrates mild proteinuria and dysmorphic red cells. Renal biopsy with immunofluorescence displays granular immunofluorescent deposition predominantly located within the glomerular mesangium. What is the diagnosis?
A. IgA nephropathy
B. Post-streptococcal glomerulonephritis
C. Goodpasture syndrome
D. Alport syndrome
18. A 14-year-old boy presents with severe bleeding following a minor tooth extraction. He has a history of recurrent hemarthroses in his knees and elbows. Laboratory tests show a prolonged activated partial thromboplastin time (aPTT) that corrects fully upon 1:1 mixing with normal plasma, while prothrombin time (PT), bleeding time, and platelet count are normal. Factor VIII activity is found to be 2% of normal. What is the underlying pathology?
A. Factor IX deficiency
B. von Willebrand disease
C. Factor VIII deficiency
D. Factor XI deficiency
19. A 60-year-old male complains of deep bone pain in his back and ribs, easy fatigability, and recurrent bacterial infections. Laboratory evaluation reveals normocytic anemia, hypercalcemia, elevated serum creatinine, and a monoclonal spike (M-protein) on serum protein electrophoresis. Urine testing shows Bence-Jones proteins. Bone marrow aspirate reveals >30% clonal plasma cells with eccentric nuclei and clock-face chromatin. What is the diagnosis?
A. Monoclonal gammopathy of undetermined significance
B. Waldenström macroglobulinemia
C. Hodgkin lymphoma
D. Multiple myeloma
20. A 25-year-old female presents with fatigue and pallor. Her peripheral blood smear shows microspherocytes, hyperchromic cells, and polychromasia. Osmotic fragility testing reveals increased fragility of red blood cells when incubated in hypotonic saline solutions. The patient's underlying defect is a mutation in spectrin or ankyrin proteins. What is the primary inherited condition?
A. Hereditary spherocytosis
B. Glucose-6-phosphate dehydrogenase deficiency
C. Sickle cell anemia
D. Beta-thalassemia major | 213 |
| 5 | 7. A 6-year-old boy presents with facial edema, generalized swelling, and dark tea-colored urine, two weeks after recovering from a impetigo skin infection. Blood pressure is 145/95 mmHg. Urinalysis reveals dysmorphic RBCs, RBC casts, and mild proteinuria. Renal biopsy under light microscopy shows diffuse proliferative glomerulonephritis, and electron microscopy demonstrates prominent subepithelial humps. What is the underlying pathology?
A. IgA nephropathy
B. Minimal change disease
C. Membranous nephropathy
D. Post-streptococcal glomerulonephritis
8. A 48-year-old female presents with severe fatigue, weight gain, cold intolerance, and constipation. On physical examination, she has dry skin, coarse hair, and a diffusely enlarged, non-tender thyroid gland. Serum TSH is significantly elevated, while free T4 is decreased. Serum anti-thyroid peroxidase (anti-TPO) antibodies are strongly positive. Biopsy of the thyroid shows extensive lymphocytic infiltration with germinal centers and Hurthle cells. What is the diagnosis?
A. Subacute granulomatous thyroiditis
B. Hashimoto thyroiditis
C. Graves disease
D. Riedel thyroiditis
9. A 3-year-old boy is brought to the pediatric clinic due to generalized puffiness and frothy urine. Physical examination reveals severe periorbital and pitting lower extremity edema. Urinalysis confirms heavy proteinuria (4+), but no hematuria or dysmorphic cells. Serum albumin is 1.8 g/dL and lipid profile shows hypercholesterolemia. Renal biopsy shows normal light microscopy findings, but electron microscopy demonstrates widespread effacement of podocyte foot processes. What is the diagnosis?
A. Focal segmental glomerulosclerosis
B. Membranous glomerulonephritis
C. Minimal change disease
D. Rapidly progressive glomerulonephritis
10. A 50-year-old male with a chronic history of heavy alcohol intake presents with hematemesis. Upper GI endoscopy reveals dilated, tortuous submucosal veins in the distal esophagus, one of which shows active bleeding. What is the primary mechanism leading to the development of these lesions?
A. Arteriovenous malformation
B. Reflux Esophagitis
C. Mallory-Weiss tear
D. Portal hypertension
11. A 65-year-old male with a long-standing history of heavy cigarette smoking presents with a persistent cough, hemoptysis, and weight loss over 4 months. Chest CT reveals a central, hilar lung mass causing partial obstruction of the right main bronchus. A transbronchial biopsy demonstrates nests of polygonal cells with abundant eosinophilic cytoplasm, intercellular bridges, and areas of focal keratinization. Serum calcium level is elevated at 12.5 mg/dL. What is the diagnosis?
A. Squamous cell carcinoma
B. Adenocarcinoma
C. Small cell lung carcinoma
D. Large cell carcinoma
12. A 35-year-old female presents with a painless, solitary, well-circumscribed, highly mobile mass in her right breast that has been present for 8 months. She notes that the mass feels slightly tender prior to her menses. Ultrasound reveals a uniform, hypoechoic, oval mass. Excision biopsy demonstrates a biphasic tumor composed of proliferating stromal tissue compressing epithelium-lined ducts into slit-like spaces (pericanalicular and intracanalicular patterns). What is the diagnosis?
A. Fibrocystic change
B. Fibroadenoma
C. Phyllodes tumor
D. Invasive ductal carcinoma
13. A 22-year-old male presents with a painless testicular swelling that he noticed 2 weeks ago while showering. Serum tumor markers reveal markedly elevated alpha-fetoprotein (AFP) and normal human chorionic gonadotropin (hCG). Radical orchiectomy is performed, and histological examination shows a tumor with a microcystic pattern and classic Schiller-Duval bodies (papillary structures with a central vessel surrounded by tumor cells). What is the diagnosis?
A. Seminoma
B. Embryonal carcinoma
C. Choriocarcinoma
D. Yolk sac tumor | 201 |
| 6 | ________________________________________
1. A 45-year-old male with a long-standing history of alcohol abuse presents to the emergency room with severe, unremitting epigastric pain radiating directly to his back, accompanied by persistent vomiting. On examination, he is febrile, tachycardic, and shows diffuse abdominal tenderness with grey-blue discoloration around his umbilicus. Serum amylase and lipase levels are significantly elevated. Which of the following microscopic pathological features is most characteristic of the severe form of this patient's underlying condition?
A. Suppurative inflammation with microabscess formation
B. Enzymatic fat necrosis with saponification
C. Fibrinoid necrosis of major mesenteric arteries
D. Non-caseating granulomatous inflammation
2. A 32-year-old female presents with progressive fatigue, shortness of breath on exertion, and painful red nodules on her shins. Chest radiograph demonstrates bilateral hilar lymphadenopathy and reticular infiltrates. Biopsy of a mediastinal lymph node reveals well-formed, non-caseating granulomas composed of epithelioid histiocytes and multinucleated giant cells containing asteroid bodies. Which of the following is the most likely diagnosis?
A. Sarcoidosis
B. Tuberculosis
C. Berylliosis
D. Idiopathic pulmonary fibrosis
3. A 62-year-old male smoker presents with a painless nodule on the lateral border of his tongue that has slowly enlarged over the past 6 months. Physical examination reveals a 2 cm exophytic, ulcerated mass. Biopsy of the lesion shows nests of atypical squamous cells infiltrating the dermis, prominent intracellular bridges, and abundant keratin pearl formation. Which of the following histological findings is the hallmark feature of this lesion?
A. Glandular lumen formation
B. Melanin deposition
C. Keratin pearls
D. Palisading basaloid cells
4. A 28-year-old primigravida at 10 weeks of gestation presents with painless vaginal bleeding and severe hyperemesis gravidarum. Physical examination reveals a uterus that is markedly larger than expected for gestational age. Serum beta-hCG levels are markedly elevated (>200,000 mIU/mL). Ultrasound shows a classic "snowstorm" appearance with no fetus visible. Histological examination shows marked hydropic swelling of chorionic villi with diffuse trophoblastic hyperplasia. What is the diagnosis?
A. Partial hydatidiform mole
B. Invasive mole
C. Choriocarcinoma
D. Complete hydatidiform mole
5. A 55-year-old male complains of gradually progressive fatigue, early satiety, and left upper quadrant abdominal discomfort. On physical examination, he has massive splenomegaly extending into the right lower quadrant. Peripheral blood smear reveals leukocytosis (150,000/µL) with a full spectrum of granulocytic precursors including myeloblasts, promyelocytic cells, myelocytes, and band forms. Cytogenetic analysis confirms a t(9;22) translocation forming the BCR-ABL fusion gene. What is the most likely diagnosis?
A. Acute myeloid leukemia
B. Myelofibrosis
C. Chronic myeloid leukemia
D. Polycythemia vera
6. A 12-year-old boy presents with progressive swelling of the left lower thigh accompanied by mild pain for 3 months. X-ray of the femur shows a destructive, lytic lesion in the metaphysis causing periosteal elevation, displaying a classic "Codman's triangle" and a "sunburst" appearance. A tissue biopsy shows pleomorphic malignant osteoblasts producing primitive unmineralized bone matrix (osteoid). What is the primary diagnosis?
A. Osteosarcoma
B. Ewing sarcoma
C. Osteochondroma
D. Giant cell tumor of bone | 314 |
| 7 | Today Questions on Pathology ✅👇 | 400 |
| 8 | 𝗬𝗼𝘂 𝗗𝗼𝗻'𝘁 𝗡𝗲𝗲𝗱 𝗣𝗲𝗿𝗳𝗲𝗰𝘁 𝗖𝗼𝗻𝗱𝗶𝘁𝗶𝗼𝗻𝘀 𝗧𝗼 𝗦𝘁𝗮𝗿𝘁 𝗬𝗼𝘂 𝗡𝗲𝗲𝗱 𝗔 𝗣𝗲𝗿𝗳𝗲𝗰𝘁 𝗣𝘂𝗿𝗽𝗼𝘀𝗲. | 676 |
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| 11 | Your score? | 809 |
| 12 | 30. Correct Answer: B (Vitamin K epoxide reductase)
Vitamin K epoxide reductase regenerates active reduced Vitamin K, which acts as a cofactor for gamma-glutamyl carboxylase to activate clotting factors II, VII, IX, and X. Deficiency leads to hemorrhagic disease of the newborn. | 754 |
| 13 | 15. Correct Answer: B (Methylmalonyl-CoA mutase)
Vitamin B12 is a required cofactor for methylmalonyl-CoA mutase (converting methylmalonyl-CoA to succinyl-CoA). B12 deficiency leads to accumulation of methylmalonic acid and homocysteine, causing macrocytic anemia and SACD.
16. Correct Answer: D (Cystathionine beta-synthase)
Classic homocystinuria is caused by cystathionine beta-synthase deficiency. It features marfanoid habitus, downward lens dislocation (vs. upward in Marfan), intellectual disability, and premature vascular thromboembolism.
17. Correct Answer: A (Hexosaminidase A)
Tay-Sachs disease is caused by hexosaminidase A deficiency, causing GM2 ganglioside accumulation. It is characterized by neurodegeneration, hyperacusis, cherry-red macular spot, and distinct absence of organomegaly.
18. Correct Answer: C (Beta-glucosidase)
Gaucher disease (most common lysosomal storage disease) is caused by glucocerebrosidase (beta-glucosidase) deficiency. It features massive splenomegaly, bone crises, osteopenia, and diagnostic tissue paper Gaucher cells.
19. Correct Answer: D (Sphingomyelinase)
Niemann-Pick disease (Type A) is caused by sphingomyelinase deficiency resulting in sphingomyelin accumulation. It presents with neurodegeneration, cherry-red macular spot, lipid-laden foam cells, and prominent hepatosplenomegaly.
20. Correct Answer: A (Tryptophan)
Pellagra (Dermatitis, Diarrhea, Dementia) is caused by Niacin (Vitamin B3) deficiency. Niacin is endogenously synthesized from the essential amino acid tryptophan; diets reliance on unnixtamalized corn lead to deficiency.
21. Correct Answer: B (1-alpha-hydroxylase)
Renal 1-alpha-hydroxylase converts 25-hydroxyvitamin D to active 1,25-dihydroxyvitamin D (calcitriol). In chronic kidney disease, loss of 1-alpha-hydroxylase leads to hypocalcemia, hyperphosphatemia, and renal osteodystrophy.
22. Correct Answer: C (NADPH oxidase)
Chronic Granulomatous Disease (CGD) is caused by NADPH oxidase deficiency, impairing phagocytic respiratory burst. Patients develop recurrent catalase-positive infections and demonstrate a abnormal/negative NBT test.
23. Correct Answer: D (Hexose monophosphate shunt)
Glucose-6-phosphate dehydrogenase (G6PD) is the rate-limiting enzyme of the HMP shunt, generating NADPH to maintain reduced glutathione. Deficiency causes oxidative hemolysis (Heinz bodies, bite cells) triggered by drugs like Primaquine.
24. Correct Answer: A (Medium-chain acyl-CoA dehydrogenase)
MCAD deficiency impairs beta-oxidation of medium-chain fatty acids during fasting, leading to hypoketotic hypoglycemia and accumulation of medium-chain dicarboxylic acylcarnitines in plasma.
25. Correct Answer: C (Lysosomal alpha-1,4-glucosidase)
Pompe disease (GSD Type II) is caused by lysosomal acid maltase (alpha-1,4-glucosidase) deficiency. It causes lysosomal glycogen accumulation resulting in severe infantile hypotonia, massive cardiomegaly, and early heart failure.
26. Correct Answer: B (LDL receptor)
Familial Hypercholesterolemia (Type IIa) is an AD defect in hepatic LDL receptors, impairing LDL clearance. It results in extremely high plasma LDL, tendon xanthomas, and premature coronary artery disease.
27. Correct Answer: D (Vitamin A)
Vitamin A (retinol) deficiency causes nyctalopia (night blindness), xerophthalmia, and Keratinized Bitot spots on the conjunctiva. Malabsorption syndromes impair uptake of fat-soluble vitamins (A, D, E, K).
28. Correct Answer: C (Galactose-1-phosphate uridyltransferase)
Classic galactosemia is caused by GALT deficiency, leading to toxic accumulation of galactose-1-phosphate and galactitol. Symptoms include neonatal cataracts, jaundice, hepatomegaly, and positive reducing sugar test with negative glucose dipstick.
29. Correct Answer: A (Aldolase B)
Hereditary Fructose Intolerance is caused by Aldolase B deficiency, leading to toxic accumulation of fructose-1-phosphate. This depletes intracellular ATP and phosphate, causing hypoglycemia, vomiting, and liver/renal dysfunction after fructose intake. | 728 |
| 14 | 1. Correct Answer: B (Hurler syndrome)
Hurler syndrome (MPS I) is caused by alpha-L-iduronidase deficiency leading to dermatan/heparan sulfate accumulation with corneal clouding and hepatosplenomegaly. Hunter syndrome (MPS II) is X-linked recessive and lacks corneal clouding.
2. Correct Answer: A (Thiamine / Vitamin B1)
Thiamine is a required cofactor for erythrocyte transketolase, pyruvate dehydrogenase, and alpha-ketoglutarate dehydrogenase. Deficiency causes Wernicke-Korsakoff syndrome characterized by confusion, ataxia, and ophthalmoplegia.
3. Correct Answer: C (Branched-chain alpha-keto acid dehydrogenase)
Maple Syrup Urine Disease (MSUD) results from deficiency of branched-chain alpha-keto acid dehydrogenase complex. This leads to toxic accumulation of leucine, isoleucine, and valine, producing a sweet maple syrup urine odor.
4. Correct Answer: D (PRPP synthetase)
Gain-of-function mutations in PRPP synthetase increase purine synthesis, causing hyperuricemia and gouty arthritis. Needle-shaped negatively birefringent crystals confirm monosodium urate deposition.
5. Correct Answer: C (Phenylalanine hydroxylase)
Phenylketonuria (PKU) is an AR disorder caused by deficiency of phenylalanine hydroxylase, leading to accumulated phenylalanine. Clinical features include intellectual disability, musty odor, fair skin, and positive green ferric chloride urine test.
6. Correct Answer: A (Type I Collagen)
Osteogenesis Imperfecta results from defects in COL1A1 or COL1A2 genes impairing Type I collagen triple helix formation. This causes fragile bones, blue sclerae, hearing loss, and dentinogenesis imperfecta.
7. Correct Answer: D (Homogentisate 1,2-dioxygenase)
Alkaptonuria is caused by homogentisate 1,2-dioxygenase deficiency, leading to homogentisic acid accumulation. Classic features are dark urine upon oxidation, ochronotic connective tissue pigmentation, and severe arthritis.
8. Correct Answer: B (Muscle glycogen phosphorylase)
McArdle disease (GSD Type V) is caused by muscle glycogen phosphorylase deficiency. Patients present with exercise-induced cramps, myoglobinuria, and absence of normal venous lactate elevation on ischemic exercise test.
9. Correct Answer: C (Glucose-6-phosphatase)
Von Gierke disease (GSD Type I) is caused by glucose-6-phosphatase deficiency, preventing hepatic glycogenolysis and gluconeogenesis. It presents with severe hypoglycemia, lactic acidosis, doll-like facies, hyperuricemia, and hyperlipidemia.
10. Correct Answer: D (Hydroxymethylbilane synthase)
Acute Intermittent Porphyria (AIP) is an AD disorder caused by Hydroxymethylbilane synthase (PBG deaminase) deficiency. It presents with the 5 Ps: Painful abdomen, Port-wine urine, Polyneuropathy, Psychological disturbances, and Precipitated by drugs.
11. Correct Answer: A (Uroporphyrinogen decarboxylase)
Porphyria Cutanea Tarda (PCT) is caused by uroporphyrinogen decarboxylase deficiency, often triggered by alcohol or hepatitis C. It features photosensitive cutaneous blistering on light-exposed areas and red-fluorescing urine.
12. Correct Answer: B (Hypoxanthine-guanine phosphoribosyltransferase)
Lesch-Nyhan syndrome is an X-linked recessive disorder caused by HGPRT deficiency in the purine salvage pathway. Symptoms include hyperuricemia (orange sand in diaper), gout, choreoathetosis, and severe self-mutilation.
13. Correct Answer: D (Uridine monophosphate synthase)
Hereditary Orotic Aciduria is caused by UMP synthase deficiency, presenting with megaloblastic anemia resistant to B12/folate, orotic aciduria, and normal ammonia levels (unlike OTC deficiency).
14. Correct Answer: C (Ornithine transcarbamylase)
OTC deficiency is the most common urea cycle defect (X-linked recessive). Excess carbamoyl phosphate shifts to pyrimidine synthesis, causing massive hyperammonemia, respiratory alkalosis, and elevated urinary orotic acid. | 553 |
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| 16 | Answers will be available at 5 pm ✅👇 | 857 |
| 17 | 28. A neonate presents with poor feeding, vomiting, and jaundice shortly after starting breastfeeding. Physical examination reveals early cataract formation in both eyes. Benedict's test on urine is positive, but urine dipstick for glucose is negative.
Which enzyme deficiency is the primary cause of classic galactosemia?
A. Galactokinase
B. Fructokinase
C. Galactose-1-phosphate uridyltransferase
D. Aldolase B
29. A 35-year-old male presents with severe upper abdominal pain, sweating, and hypoglycemia shortly after eating sucrose- and fructose-rich fruits. Laboratory studies show hypophosphatemia, hyperuricemia, and elevated hepatic transaminases.
Deficiency of which liver enzyme causes Hereditary Fructose Intolerance?
A. Aldolase B
B. Fructokinase
C. Triokinase
D. Phosphofructokinase-1
30. A 4-day-old infant presents with prolonged oozing from the umbilical stump and venipuncture sites. Coagulation profile shows prolonged PT and aPTT, with normal platelet count and bleeding time.
Inhibition of which enzyme prevents proper activation of clotting factors II, VII, IX, and X in this setting?
A. Gamma-glutamyl carboxylase
B. Vitamin K epoxide reductase
C. Factor XIII synthetase
D. Prothrombinase | 893 |
| 18 | 18. A 1-year-old child presents with bone pain, pathological fractures, and massive hepatosplenomegaly. Bone marrow biopsy reveals lipid-laden macrophages with a crinkled tissue paper appearance.
Which enzyme deficiency is associated with this lipid storage disease?
A. Sphingomyelinase
B. Hexosaminidase A
C. Beta-glucosidase
D. Alpha-galactosidase A
19. A 6-month-old infant presents with regression of motor skills, failure to thrive, and massive hepatosplenomegaly. Funduscopic examination shows a cherry-red spot in the macula. Bone marrow aspiration reveals foam cells with lipid vacuoles.
Which lysosomal enzyme is deficient in this infant?
A. Hexosaminidase A
B. Alpha-galactosidase A
C. Beta-glucosidase
D. Sphingomyelinase
20. A 25-year-old man presents with chronic diarrhea, confusion, and a scaly, hyperpigmented rash distributed symmetrically over sun-exposed areas of his neck and arms. His diet consists almost exclusively of corn.
Deficiency of which amino acid precursor leads to this clinical presentation?
A. Tryptophan
B. Tyrosine
C. Phenylalanine
D. Lysine
21. A 45-year-old male with long-standing end-stage renal disease presents with muscle weakness and bone pain. Laboratory results reveal low serum calcium, elevated serum phosphate, and elevated parathyroid hormone levels. Bone biopsy indicates osteomalacia.
Impaired activity of which renal enzyme leads to his hypocalcemia?
A. 25-hydroxylase
B. 1-alpha-hydroxylase
C. 24-hydroxylase
D. 7-alpha-hydroxylase
22. A 3-year-old boy is evaluated for recurrent severe catalase-positive bacterial and fungal soft tissue infections. Laboratory evaluation shows a normal white blood cell count, but his neutrophils fail to reduce nitroblue tetrazolium dye to purple formazan.
Deficiency of which enzyme complex is responsible for this immune deficiency?
A. Myeloperoxidase
B. Glucose-6-phosphate dehydrogenase
C. NADPH oxidase
D. Glutathione reductase
23. A 22-year-old male develops acute fatigue, dark urine, and jaundice 2 days after starting Primaquine for malaria prophylaxis. Peripheral blood smear reveals Heinz bodies and bite cells on crystal violet staining.
Which metabolic pathway contains the deficient enzyme responsible for this hemolytic state?
A. Glycolysis
B. Gluconeogenesis
C. Tricarboxylic acid cycle
D. Hexose monophosphate shunt
24. A 2-year-old child presents with severe lethargy and non-ketotic hypoglycemia following a 14-hour fast during a viral fever. Plasma acylcarnitine profile demonstrates accumulation of dicarboxylic acids and medium-chain acylcarnitines.
Which enzyme is deficient in this infant?
A. Medium-chain acyl-CoA dehydrogenase
B. Carnitine palmitoyltransferase I
C. Hormone-sensitive lipase
D. Acetyl-CoA carboxylase
25. A 3-month-old infant presents with marked hypotonia, muscle weakness, and massive cardiomegaly. ECG reveals high-voltage QRS complexes and short PR intervals. Liver examination is completely normal. Muscle biopsy shows glycogen accumulation within lysosomes.
Which enzyme deficiency causes this condition?
A. Glucose-6-phosphatase
B. Debranching enzyme
C. Lysosomal alpha-1,4-glucosidase
D. Branching enzyme
26. A 52-year-old male presents with tendon xanthomas over his Achilles tendons and premature coronary heart disease. Fasting lipid profile displays a serum total cholesterol of 380 mg/dL and markedly elevated LDL levels, with normal serum triglycerides.
A structural defect in which cell surface receptor is the primary cause of this condition?
A. ApoE receptor
B. LDL receptor
C. Scavenger receptor B1
D. VLDL receptor
27. A 16-year-old boy presents with complaints of night blindness, dry eyes, and foamy triangular patches on his bulbar conjunctiva (Bitot spots). He has a chronic history of malabsorption due to unmanaged celiac disease.
Which vitamin deficiency is responsible for his ocular findings?
A. Vitamin D
B. Vitamin E
C. Vitamin K
D. Vitamin A | 699 |
| 19 | 9. A 4-month-old infant presents with doll-like facies, massive hepatomegaly, severe fasting hypoglycemia, and lactic acidosis. Laboratory testing shows marked hyperuricemia and hyperlipidemia. Administration of fructose or galactose fails to increase blood glucose levels.
Which primary enzyme deficiency causes this metabolic disorder?
A. Lysosomal alpha-1,4-glucosidase
B. Debranching enzyme
C. Glucose-6-phosphatase
D. Hepatic phosphorylase
10. A 30-year-old female presents with recurrent severe abdominal pain, anxiety, and peripheral neuropathy. She notices that her urine darkens to a port-wine color when left exposed to light. Urinalysis reveals significantly elevated levels of porphobilinogen.
Which enzyme deficiency is responsible for this acute neurovisceral condition?
A. Ferrochelatase
B. ALA dehydratase
C. Uroporphyrinogen III synthase
D. Hydroxymethylbilane synthase
11. A 50-year-old male chronic alcoholic presents with painful fluid-filled blisters and hyperpigmentation on the backs of his hands and face after light exposure. Urine fluoresces bright red under Wood's lamp.
Deficiency of which enzyme in the heme synthesis pathway causes this condition?
A. Uroporphyrinogen decarboxylase
B. Ferrochelatase
C. ALA synthase
D. Coproporphyrinogen oxidase
12. An 8-month-old boy presents with severe self-mutilating behavior including lip and finger biting, choreoathetosis, and developmental delay. Laboratory evaluation reveals hyperuricemia and orange, sand-like crystals in his diaper.
This X-linked recessive condition is caused by a deficiency in which enzyme?
A. Adenosine deaminase
B. Hypoxanthine-guanine phosphoribosyltransferase
C. Xanthine oxidase
D. Orotate phosphoribosyltransferase
13. A 2-year-old child presents with failure to thrive, developmental delay, and severe megaloblastic anemia that does not respond to vitamin B12 or folate therapy. Urinalysis demonstrates widespread excretion of needle-shaped orotic acid crystals. Serum ammonia levels are within normal limits.
Which enzyme is deficient in this pyrimidine synthesis disorder?
A. Carbamoyl phosphate synthetase I
B. Ornithine transcarbamylase
C. Argininosuccinate synthetase
D. Uridine monophosphate synthase
14. A newborn male develops poor feeding, lethargy, and seizures on his second day of life. Blood gas analysis reveals respiratory alkalosis secondary to hyperventilation. Plasma ammonia level is 800 mcg/dL, serum citrulline is undetectable, and urinary orotic acid is significantly elevated.
Which urea cycle enzyme is deficient in this infant?
A. Carbamoyl phosphate synthetase I
B. N-Acetylglutamate synthase
C. Ornithine transcarbamylase
D. Argininosuccinate lyase
15. A 35-year-old strict vegan presents with generalized weakness, gait ataxia, and numbness in her lower extremities. Peripheral blood smear shows macrocytic anemia with hypersegmented neutrophils. Serum levels of both methylmalonic acid and homocysteine are elevated.
Impaired activity of which cofactor-dependent enzyme explains the elevated methylmalonic acid?
A. Methionine synthase
B. Methylmalonyl-CoA mutase
C. Cystathionine beta-synthase
D. Propionyl-CoA carboxylase
16. A 10-year-old boy presents with downward lens dislocation, tall stature, long thin fingers, and intellectual impairment. He suffers an acute thrombotic stroke. Laboratory testing reveals markedly elevated plasma homocysteine and methionine levels.
Which enzyme deficiency causes this metabolic disease?
A. Methionine synthase
B. Homogentisate oxidase
C. Phenylalanine hydroxylase
D. Cystathionine beta-synthase
17. A 6-month-old infant displays loss of motor milestones, hyperacusis (exaggerated startle response to noise), and progressive blindness. Ophthalmoscopy shows a cherry-red spot on the macula. Abdominal examination reveals no hepatosplenomegaly.
Which lysosomal enzyme is deficient in this patient?
A. Hexosaminidase A
B. Sphingomyelinase
C. Beta-glucosidase
D. Galactocerebrosidase | 426 |
| 20 | 1. A 2-year-old child presents with coarse facial features, hepatosplenomegaly, and progressive developmental delay. Ophthalmic examination reveals bilateral corneal clouding. Urinalysis shows elevated levels of dermatan sulfate and heparan sulfate.
Enzymatic assay confirms a deficiency in alpha-L-iduronidase.
Which of the following is the most likely diagnosis?
A. Hunter syndrome
B. Hurler syndrome
C. Scheie syndrome
D. Sanfilippo syndrome
2. A 45-year-old chronic alcoholic male presents to the emergency department with acute confusion, ataxia, and horizontal nystagmus. Physical examination demonstrates ophthalmoplegia. Laboratory evaluation reveals significantly decreased activity of erythrocyte transketolase.
Which vitamin deficiency is directly responsible for this patient's clinical presentation?
A. Thiamine (Vitamin B1)
B. Niacin (Vitamin B3)
C. Pyridoxine (Vitamin B6)
D. Riboflavin (Vitamin B2)
3. A 3-day-old neonate presents with poor feeding, lethargy, vomiting, and hypertonia. On physical examination, the clinician notices a peculiar sweet, caramelized sugar odor originating from the infant's diaper. Plasma amino acid analysis reveals markedly elevated levels of leucine, isoleucine, and valine.
Which enzyme complex is deficient in this infant?
A. Phenylalanine hydroxylase
B. Homogentisate oxidase
C. Branched-chain alpha-keto acid dehydrogenase
D. Isovaleryl-CoA dehydrogenase
4. A 28-year-old male presents with sudden, severe pain and swelling in his left first metatarsal-phalangeal joint. Serum uric acid is elevated at 9.5 mg/dL. Synovial fluid aspiration confirms the presence of needle-shaped, negatively birefringent crystals under polarized light microscopy.
Which enzyme is overactive or uninhibited in this patient, leading to purine overproduction?
A. Adenosine deaminase
B. Xanthine oxidase
C. Hypoxanthine-guanine phosphoribosyltransferase
D. PRPP synthetase
5. A 6-month-old infant is brought for developmental delay, microcephaly, and seizures. The mother notes that the child has fair skin and light blue eyes, unlike her dark-haired siblings. A distinct musty body odor is noted. Ferric chloride testing on urine yields a turn-to-green color.
Which enzyme deficiency is responsible for this condition?
A. Tyrosinase
B. Homogentisate 1,2-dioxygenase
C. Phenylalanine hydroxylase
D. Dihydrobiopterin reductase
6. A 5-year-old child presents with a history of recurrent low-impact bone fractures, progressive hearing loss, and blue-tinted sclerae. Dental evaluation shows opalescent teeth indicative of dentinogenesis imperfecta. Genetic testing reveals a mutation affecting triple helix formation.
Synthesis of which structural protein is defective in this child?
A. Type I Collagen
B. Type IV Collagen
C. Elastin
D. Fibrillin-1
7. A 40-year-old male presents with complaints of dark urine that turns black upon standing, dark pigmentation of his sclera and ear cartilage, and severe back pain due to degenerative disk disease. Urine tests positive for reducing substances using Benedict's reagent.
Which enzyme deficiency leads to this triad of symptoms?
A. Fumarylacetoacetate hydrolase
B. Tyrosinase
C. Phenylalanine hydroxylase
D. Homogentisate 1,2-dioxygenase
8. A 12-year-old boy experiences severe muscle cramps and burgundy-colored urine following intense exercise during physical education class. Symptoms resolve after a period of rest. An ischemic forearm exercise test fails to demonstrate the expected rise in venous lactate levels.
Which enzyme deficiency is responsible for his symptoms?
A. Glucose-6-phosphatase
B. Muscle glycogen phosphorylase
C. Hepatic glycogen phosphorylase
D. Acid alpha-glucosidase | 605 |
