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All are features of Abetalipoproteinemia, EXCEPT:
Plasma levels of cholesterol and triglyceride are extremely low
Manifest in early childhood with diarrhea
Progressive pigmented retinopathy seen
Neurological manifestation as ataxia in first decade
3
[ "Abetalipoproteinemia" ]
Question: All are features of Abetalipoproteinemia, EXCEPT: Choices: A. Plasma levels of cholesterol and triglyceride are extremely low B. Manifest in early childhood with diarrhea C. Progressive pigmented retinopathy seen D. Neurological manifestation as ataxia in first decade Answer:
Abetalipoproteinemia is due to deficiency of -
Lecithin Cholesterol Acyl Transferase
ATP Binding Cassette Transporter-1
Mitochondrial Triglyceride Transfer Protein
ApoCII
2
[ "Abetalipoproteinemia" ]
Question: Abetalipoproteinemia is due to deficiency of - Choices: A. Lecithin Cholesterol Acyl Transferase B. ATP Binding Cassette Transporter-1 C. Mitochondrial Triglyceride Transfer Protein D. ApoCII Answer:
Small intestinal biopsy is diagnostic in :a) Whipple's diseaseb) Abetalipoproteinemiac) Celiac diseased) Agammaglobulinemia
acd
bcd
abd
ab
2
[ "Abetalipoproteinemia", "Agammaglobulinemia" ]
Question: Small intestinal biopsy is diagnostic in :a) Whipple's diseaseb) Abetalipoproteinemiac) Celiac diseased) Agammaglobulinemia Choices: A. acd B. bcd C. abd D. ab Answer:
Intermittent dysphagia is caused by -a) Strictureb) Reflux esophagitisc) Achalasia cardiad) Pharyngeal diverticululame) Diffuse esophageal spasm
ab
bc
de
bd
2
[ "Achalasia" ]
Question: Intermittent dysphagia is caused by -a) Strictureb) Reflux esophagitisc) Achalasia cardiad) Pharyngeal diverticululame) Diffuse esophageal spasm Choices: A. ab B. bc C. de D. bd Answer:
Following are radiological evidence of Achalasia cardia except not related -radiology
Smooth narrowing of esophagus
Dilated touous esophagus
Absence of air in the fundus
Exaggerated peristalsis
3
[ "Achalasia" ]
Question: Following are radiological evidence of Achalasia cardia except not related -radiology Choices: A. Smooth narrowing of esophagus B. Dilated touous esophagus C. Absence of air in the fundus D. Exaggerated peristalsis Answer:
Which drug is used for Achalasia cardia-
Nifedipine
Propranolal
Atenolol
Bethnecol
0
[ "Achalasia" ]
Question: Which drug is used for Achalasia cardia- Choices: A. Nifedipine B. Propranolal C. Atenolol D. Bethnecol Answer:
Achalasia is associated with increased risk of ...... malignancy:
Squamous cell carcinoma esophagus
Adenocarcinoma esophagus
Bronchogenic carcinoma
Bronchial adenoma
0
[ "Achalasia" ]
Question: Achalasia is associated with increased risk of ...... malignancy: Choices: A. Squamous cell carcinoma esophagus B. Adenocarcinoma esophagus C. Bronchogenic carcinoma D. Bronchial adenoma Answer:
Which investigation is not required in diagnosis of Achalasia?
Esophageal manometry
Barium swallow
Anti-neuronal antibodies
Enterocylsis
3
[ "Achalasia" ]
Question: Which investigation is not required in diagnosis of Achalasia? Choices: A. Esophageal manometry B. Barium swallow C. Anti-neuronal antibodies D. Enterocylsis Answer:
About Achalasia Cardia: 1. Dysphagia is a presenting symptom 2. The cause is the absence of Auerbach's plexus 3. Esophagectomy is the treatment 4. Motility improving agents are used in treatment 5. Barium swallow shows irregular filling defects in lower esophagus
1,2,3 False & 4,5 True
1,2,4 True & 3,5 False
2,3,4 True &1,5 False
1,3,5 True & 2,4 False
1
[ "Achalasia" ]
Question: About Achalasia Cardia: 1. Dysphagia is a presenting symptom 2. The cause is the absence of Auerbach's plexus 3. Esophagectomy is the treatment 4. Motility improving agents are used in treatment 5. Barium swallow shows irregular filling defects in lower esophagus Choices: A. 1,2,3 False & 4,5 True B. 1,2,4 True & 3,5 False C. 2,3,4 True &1,5 False D. 1,3,5 True & 2,4 False Answer:
Feature of Achalasia cardia (cardiospasm) include all of the following except-
Increasing dificulty in swallowing more for liquids than for soilds
Regurgitant vomiting
Dilated & turtuous esophagus
Filling defect on barium study
3
[ "Achalasia" ]
Question: Feature of Achalasia cardia (cardiospasm) include all of the following except- Choices: A. Increasing dificulty in swallowing more for liquids than for soilds B. Regurgitant vomiting C. Dilated & turtuous esophagus D. Filling defect on barium study Answer:
Barret's esophagus can lead to -a) Strictureb) Reflux esophagitisc) Peptic ulcerd) Achalasia
ac
bc
ad
b
0
[ "Achalasia" ]
Question: Barret's esophagus can lead to -a) Strictureb) Reflux esophagitisc) Peptic ulcerd) Achalasia Choices: A. ac B. bc C. ad D. b Answer:
Odynophagia occurs ina) Achalasiab) Herpes esophagitisc) Monilial esophagitisd) Barret's oesophagus
a
c
ac
bc
3
[ "Achalasia" ]
Question: Odynophagia occurs ina) Achalasiab) Herpes esophagitisc) Monilial esophagitisd) Barret's oesophagus Choices: A. a B. c C. ac D. bc Answer:
Achalasia cardia presents with all EXCEPT:
Increased lower esophalgus sphincter tone
Normal peristalsis
Dilatation proximally
Malignancy
1
[ "Achalasia" ]
Question: Achalasia cardia presents with all EXCEPT: Choices: A. Increased lower esophalgus sphincter tone B. Normal peristalsis C. Dilatation proximally D. Malignancy Answer:
Intermittent dysphagia is caused by -a) Strictureb) Reflux esophagitisc) Achalasia cardiad) Pharyngeal diverticulme) Diffuse esophageal spasm
ab
bc
cd
de
3
[ "Achalasia" ]
Question: Intermittent dysphagia is caused by -a) Strictureb) Reflux esophagitisc) Achalasia cardiad) Pharyngeal diverticulme) Diffuse esophageal spasm Choices: A. ab B. bc C. cd D. de Answer:
Radiologic feature suggestive of Achalasia cardia is?
Absence of gastric air bubble
Air fluid level in mediastinum
Sigmoid ecophagus
All of the above
3
[ "Achalasia" ]
Question: Radiologic feature suggestive of Achalasia cardia is? Choices: A. Absence of gastric air bubble B. Air fluid level in mediastinum C. Sigmoid ecophagus D. All of the above Answer:
Achalasia cardia due to:
Degeneration of myenteric plexus due to toxin
Degeneration and absence of ganglion cells in auerbach' Plexus
Excess of Ganglion cells in auerbach Plexus
Degeneration of meissner's Plexus
1
[ "Achalasia" ]
Question: Achalasia cardia due to: Choices: A. Degeneration of myenteric plexus due to toxin B. Degeneration and absence of ganglion cells in auerbach' Plexus C. Excess of Ganglion cells in auerbach Plexus D. Degeneration of meissner's Plexus Answer:
In which of the following condition does odynohagia occur? 1. Achalasia 2. Herpes esophagitis 3. Monilial esophagitis 4. Barrett's esophagus
1 & 2
2 & 3
1,2 & 3
1,2,3 & 4
1
[ "Achalasia" ]
Question: In which of the following condition does odynohagia occur? 1. Achalasia 2. Herpes esophagitis 3. Monilial esophagitis 4. Barrett's esophagus Choices: A. 1 & 2 B. 2 & 3 C. 1,2 & 3 D. 1,2,3 & 4 Answer:
Following are radiological evidence of Achalasia cardia Except
Beak like appearance
Dilated touous esophagus
Presence of air-fluid level
Exaggerated peristalsis
3
[ "Achalasia" ]
Question: Following are radiological evidence of Achalasia cardia Except Choices: A. Beak like appearance B. Dilated touous esophagus C. Presence of air-fluid level D. Exaggerated peristalsis Answer:
Which of the following disease causes Achalasia
Kala azar
Chaga's disease
KFD
Schistosomiasis
1
[ "Achalasia" ]
Question: Which of the following disease causes Achalasia Choices: A. Kala azar B. Chaga's disease C. KFD D. Schistosomiasis Answer:
In which of the following conditions, uniform dilation of esophagus is seen -a) Sclerodermab) Achalasia cardiac) Dermatomyositisd) Trypanosoma cruzi infection
c
bd
ab
ac
1
[ "Achalasia", "Dermatomyositis", "Scleroderma" ]
Question: In which of the following conditions, uniform dilation of esophagus is seen -a) Sclerodermab) Achalasia cardiac) Dermatomyositisd) Trypanosoma cruzi infection Choices: A. c B. bd C. ab D. ac Answer:
Radiologic feature suggestive of Achalasia cardia is-
Absence of gastric air bubble
Air fluid level in mediastinum
Sigmoid ecophagus
All of the above
3
[ "Achalasia" ]
Question: Radiologic feature suggestive of Achalasia cardia is- Choices: A. Absence of gastric air bubble B. Air fluid level in mediastinum C. Sigmoid ecophagus D. All of the above Answer:
Intermittent dysphagia is caused by? 1. Stricture 2. Reflux esophagitis 3. Achalasia cardia 4. Pharyngeal diveiculum 5. Diffuse esophageal spasm
1,2 & 3
2,3 & 4
4 & 5
3,4 & 5
2
[ "Achalasia" ]
Question: Intermittent dysphagia is caused by? 1. Stricture 2. Reflux esophagitis 3. Achalasia cardia 4. Pharyngeal diveiculum 5. Diffuse esophageal spasm Choices: A. 1,2 & 3 B. 2,3 & 4 C. 4 & 5 D. 3,4 & 5 Answer:
Gold standard Investigation for Achalasia cardia is :
Esophageal manometry
Barium swallow
Endoscopy
Endoscopic ultrasound
0
[ "Achalasia" ]
Question: Gold standard Investigation for Achalasia cardia is : Choices: A. Esophageal manometry B. Barium swallow C. Endoscopy D. Endoscopic ultrasound Answer:
Achalasia cardia
Absence of nerves
Absence of muscles
Hyperophy of nerves
Hyperophy of muscles
0
[ "Achalasia" ]
Question: Achalasia cardia Choices: A. Absence of nerves B. Absence of muscles C. Hyperophy of nerves D. Hyperophy of muscles Answer:
Mode of inheritance forAchondroplasia is -
Autosomal dominant
Autosomal recessive
X-linked dominant
X- linked recessive
0
[ "Achondroplasia" ]
Question: Mode of inheritance forAchondroplasia is - Choices: A. Autosomal dominant B. Autosomal recessive C. X-linked dominant D. X- linked recessive Answer:
The features of Achondroplasia inlcude all,except -a) Defective headb) Mental retardationc) Autosomal recessived) Familial
bc
c
ac
ad
0
[ "Achondroplasia" ]
Question: The features of Achondroplasia inlcude all,except -a) Defective headb) Mental retardationc) Autosomal recessived) Familial Choices: A. bc B. c C. ac D. ad Answer:
Most common inheritance of Achondroplasia is
Sporadic
Autosomal dominant
Autosomal recessive
X-linked recessive
1
[ "Achondroplasia" ]
Question: Most common inheritance of Achondroplasia is Choices: A. Sporadic B. Autosomal dominant C. Autosomal recessive D. X-linked recessive Answer:
Achondroplasia shows which of the following type of inheritance
Autosomal Dominant
Autosomal Recessive
X-Linked Dominant
X-Linked Recessive
0
[ "Achondroplasia" ]
Question: Achondroplasia shows which of the following type of inheritance Choices: A. Autosomal Dominant B. Autosomal Recessive C. X-Linked Dominant D. X-Linked Recessive Answer:
All of the following are features of Achondroplasia except:
Bullet shaped veebra
Trident hand/starfish hand
Wimberger ring sign
Champagne glass pelvis
2
[ "Achondroplasia" ]
Question: All of the following are features of Achondroplasia except: Choices: A. Bullet shaped veebra B. Trident hand/starfish hand C. Wimberger ring sign D. Champagne glass pelvis Answer:
Microcephaly is seen in Beckwith hypoglycaemic syndrome Fanconi syndrome Down syndrome Achondroplasia
I and iv
I and ii
ii and iii
ii and iv
1
[ "Achondroplasia" ]
Question: Microcephaly is seen in Beckwith hypoglycaemic syndrome Fanconi syndrome Down syndrome Achondroplasia Choices: A. I and iv B. I and ii C. ii and iii D. ii and iv Answer:
True statement regarding Achondroplasia is :
AR inheritance
Shortened spine
Increased risk of pathological fracture
Diagnosed at birth by X-ray
3
[ "Achondroplasia" ]
Question: True statement regarding Achondroplasia is : Choices: A. AR inheritance B. Shortened spine C. Increased risk of pathological fracture D. Diagnosed at birth by X-ray Answer:
If both husband and wife are suffering with Achondroplasia, what are their chances of having a normal child?
0%
25%
50%
100%
1
[ "Achondroplasia" ]
Question: If both husband and wife are suffering with Achondroplasia, what are their chances of having a normal child? Choices: A. 0% B. 25% C. 50% D. 100% Answer:
All are true about Achondroplasia except
Antosomal dominant
Acral osteolysis
Trident hand
Champaigne glass pelvis
1
[ "Achondroplasia" ]
Question: All are true about Achondroplasia except Choices: A. Antosomal dominant B. Acral osteolysis C. Trident hand D. Champaigne glass pelvis Answer:
Not a feature of Achondroplasia
Tombstone iliac bone
Champagne glass pelvis
Acromelic dwarfism
Bullet shaped veebra
2
[ "Achondroplasia" ]
Question: Not a feature of Achondroplasia Choices: A. Tombstone iliac bone B. Champagne glass pelvis C. Acromelic dwarfism D. Bullet shaped veebra Answer:
Achondroplasia shows which of the following type of inheritance?
Autosomal dominant
Autosomal recessive
X linked dominant
X linked recessive
0
[ "Achondroplasia" ]
Question: Achondroplasia shows which of the following type of inheritance? Choices: A. Autosomal dominant B. Autosomal recessive C. X linked dominant D. X linked recessive Answer:
The earliest Cranial nerve involved in Acoustic Neuroma is:
V
VI
VII
X
0
[ "Acoustic Neuroma" ]
Question: The earliest Cranial nerve involved in Acoustic Neuroma is: Choices: A. V B. VI C. VII D. X Answer:
Acromegaly is due to excess of:
Somatomedin
Growth hormone
Somatostation
Insulin
1
[ "Acromegaly" ]
Question: Acromegaly is due to excess of: Choices: A. Somatomedin B. Growth hormone C. Somatostation D. Insulin Answer:
Deficiency of growth hormone leads to –a) Delayed fusion of epiphysisb) Proportionate dwarfismc) Acromegaly d) Mental retardation
ac
a
ab
bc
2
[ "Acromegaly" ]
Question: Deficiency of growth hormone leads to –a) Delayed fusion of epiphysisb) Proportionate dwarfismc) Acromegaly d) Mental retardation Choices: A. ac B. a C. ab D. bc Answer:
Acromegaly is associated with all of the following EXCEPT:
Nasal sinus enlargement
Increased heel pad thickness
Diabetes mellitus
Muscle hyperophy
3
[ "Acromegaly" ]
Question: Acromegaly is associated with all of the following EXCEPT: Choices: A. Nasal sinus enlargement B. Increased heel pad thickness C. Diabetes mellitus D. Muscle hyperophy Answer:
Angioid streaks is seen in -a) Pseudoxanthoma Elasticumb) Acromegalyc) Paget's diseased) All of above
a
ac
ad
b
1
[ "Acromegaly", "Pseudoxanthoma Elasticum" ]
Question: Angioid streaks is seen in -a) Pseudoxanthoma Elasticumb) Acromegalyc) Paget's diseased) All of above Choices: A. a B. ac C. ad D. b Answer:
In Acromegaly All of the following are seen EXCEPT
Visceromegaly
Decreased sweating
Hypertension
Soft tissue and bone enlargement
1
[ "Acromegaly" ]
Question: In Acromegaly All of the following are seen EXCEPT Choices: A. Visceromegaly B. Decreased sweating C. Hypertension D. Soft tissue and bone enlargement Answer:
Confirmatory investigation for Acromegaly is:
Insulin induced GH suppression
Glucose induced GH suppression
Random GH assay
IGF - I level
1
[ "Acromegaly" ]
Question: Confirmatory investigation for Acromegaly is: Choices: A. Insulin induced GH suppression B. Glucose induced GH suppression C. Random GH assay D. IGF - I level Answer:
Acromegaly is a disorder of:
Excess growth hormone secretion during adulthood
Excess thyroxine secretion
Excess ACTH secretion
Excess FSH secretion
0
[ "Acromegaly" ]
Question: Acromegaly is a disorder of: Choices: A. Excess growth hormone secretion during adulthood B. Excess thyroxine secretion C. Excess ACTH secretion D. Excess FSH secretion Answer:
Acromegaly results due to excessive release of:
Thyroxine
Growth hormone
Insulin
Glucagon
1
[ "Acromegaly" ]
Question: Acromegaly results due to excessive release of: Choices: A. Thyroxine B. Growth hormone C. Insulin D. Glucagon Answer:
Acromegaly is associated with
Class. I malocclusion
Class. I cross bite
Class. II malocclusion
Class. III malocclusion
3
[ "Acromegaly" ]
Question: Acromegaly is associated with Choices: A. Class. I malocclusion B. Class. I cross bite C. Class. II malocclusion D. Class. III malocclusion Answer:
Drug used in Acute Intermittent Porphyria is
Opioids
Phenobarbitone
Primidone
Blood tranfusion
0
[ "Acute Intermittent Porphyria" ]
Question: Drug used in Acute Intermittent Porphyria is Choices: A. Opioids B. Phenobarbitone C. Primidone D. Blood tranfusion Answer:
All of the following genetic syndromes are associated with Acute Myeloid Leukemia, except:
Down's Syndrome
Klinefelter's Syndrome
Patau Syndrome
Turner's Syndrome
3
[ "Acute Myeloid Leukemia" ]
Question: All of the following genetic syndromes are associated with Acute Myeloid Leukemia, except: Choices: A. Down's Syndrome B. Klinefelter's Syndrome C. Patau Syndrome D. Turner's Syndrome Answer:
A child with Acute Myeloid Leukemia presents with hyperleukocytosis. Treatment includes all of the following except ?
IV fluid
Allopurinol
Alkalinization
Immediately sta induction chemotherapy
3
[ "Acute Myeloid Leukemia" ]
Question: A child with Acute Myeloid Leukemia presents with hyperleukocytosis. Treatment includes all of the following except ? Choices: A. IV fluid B. Allopurinol C. Alkalinization D. Immediately sta induction chemotherapy Answer:
Which of the following is a poor prognostic factor in Acute Myeloid Leukemia (AML)
Monosomy
Deletion of X or Y chromosome
t (8; 21) translocation
Nucleophosphin mutation
0
[ "Acute Myeloid Leukemia" ]
Question: Which of the following is a poor prognostic factor in Acute Myeloid Leukemia (AML) Choices: A. Monosomy B. Deletion of X or Y chromosome C. t (8; 21) translocation D. Nucleophosphin mutation Answer:
Non-specific esterase is positive in all the categories of Acute Myeloid Leukemia, EXCEPT:
M3
M4
M5
M6
0
[ "Acute Myeloid Leukemia" ]
Question: Non-specific esterase is positive in all the categories of Acute Myeloid Leukemia, EXCEPT: Choices: A. M3 B. M4 C. M5 D. M6 Answer:
The cause of the severe hemorrhage in Acute Promyelocytic Leukemia is?
Disseminated intravascular coagulation
Immune complex deposits on blood vessels
Thrombocytopenia
Thrombocytosis
0
[ "Acute Promyelocytic Leukemia" ]
Question: The cause of the severe hemorrhage in Acute Promyelocytic Leukemia is? Choices: A. Disseminated intravascular coagulation B. Immune complex deposits on blood vessels C. Thrombocytopenia D. Thrombocytosis Answer:
A 26 year old man is critically ill, with multisystem organ failure, and he has not been able to give a clear history of respiratory distress. You suspect Acute Respiratory Distress Syndrome (ARDS). 1. The lung injury may be direct, as occurs in sepsis, or indirect, as occurs in Toxic inhalation 2. The aerial (a) PO2 (in mmHg)/FIO2 (inspiratory O2 fraction) > 200 mmHg is characteristic of ARDS 3. Ventilator-induced injury will be more with low tidal volume ventilation in ARDS 4. Moality was significantly lower in the high tidal volume ventilation, compared to the conventional tidal volume ventilated patients 5. High-dose glucocoicoids are useful in the care of ARDS patients
1,2,5-True & 3,4-False
All True
All False
3,4-True & 1,2,5-False
2
[ "Acute Respiratory Distress Syndrome" ]
Question: A 26 year old man is critically ill, with multisystem organ failure, and he has not been able to give a clear history of respiratory distress. You suspect Acute Respiratory Distress Syndrome (ARDS). 1. The lung injury may be direct, as occurs in sepsis, or indirect, as occurs in Toxic inhalation 2. The aerial (a) PO2 (in mmHg)/FIO2 (inspiratory O2 fraction) > 200 mmHg is characteristic of ARDS 3. Ventilator-induced injury will be more with low tidal volume ventilation in ARDS 4. Moality was significantly lower in the high tidal volume ventilation, compared to the conventional tidal volume ventilated patients 5. High-dose glucocoicoids are useful in the care of ARDS patients Choices: A. 1,2,5-True & 3,4-False B. All True C. All False D. 3,4-True & 1,2,5-False Answer:
Diffuse specific lesions on intestinal biopsy are seen in -a) Celiac sprueb) Whipples diseasec) Agammaglobulinemia d) Abetalipoproteinemal
abc
bcd
ac
bd
1
[ "Agammaglobulinemia" ]
Question: Diffuse specific lesions on intestinal biopsy are seen in -a) Celiac sprueb) Whipples diseasec) Agammaglobulinemia d) Abetalipoproteinemal Choices: A. abc B. bcd C. ac D. bd Answer:
Agammaglobulinemia can present with?
Rhinitis
Bronchiectasis
Giardia infections
All above
3
[ "Agammaglobulinemia" ]
Question: Agammaglobulinemia can present with? Choices: A. Rhinitis B. Bronchiectasis C. Giardia infections D. All above Answer:
Diagnosis of X linked Agammaglobulinemia should be suspected if:
Female sex
Absent tonsils and no palpable lymph nodes on physical examination
High isohemagglutinins titers
Low CD3
1
[ "Agammaglobulinemia" ]
Question: Diagnosis of X linked Agammaglobulinemia should be suspected if: Choices: A. Female sex B. Absent tonsils and no palpable lymph nodes on physical examination C. High isohemagglutinins titers D. Low CD3 Answer:
Alkaptonuria an inherited metabolic disorder is due to the deficiency of
Homogentisate oxidase
Cystathionase
Pheylalanine hydroxylase
Tyrosine transaminase
0
[ "Alkaptonuria" ]
Question: Alkaptonuria an inherited metabolic disorder is due to the deficiency of Choices: A. Homogentisate oxidase B. Cystathionase C. Pheylalanine hydroxylase D. Tyrosine transaminase Answer:
Alkaptonuria is caused by defect in which of the following enzymes?
Enolase
Homogentisate oxidase
Pyruvate carboxylase
None of the above
1
[ "Alkaptonuria" ]
Question: Alkaptonuria is caused by defect in which of the following enzymes? Choices: A. Enolase B. Homogentisate oxidase C. Pyruvate carboxylase D. None of the above Answer:
Enzyme-deficient in Alkaptonuria
Phenylalanine hydroxylase
Cystathionine synthase
Homogentisic acid oxidase
Tyrosinase
2
[ "Alkaptonuria" ]
Question: Enzyme-deficient in Alkaptonuria Choices: A. Phenylalanine hydroxylase B. Cystathionine synthase C. Homogentisic acid oxidase D. Tyrosinase Answer:
The earliest manifestation of Alkaptonuria is -
Ankylosis of lumbodorsal spine
Ochronotic arthritis
Prostatic calculi
Pigmentation of tympanic membrane
1
[ "Alkaptonuria" ]
Question: The earliest manifestation of Alkaptonuria is - Choices: A. Ankylosis of lumbodorsal spine B. Ochronotic arthritis C. Prostatic calculi D. Pigmentation of tympanic membrane Answer:
Enzyme deficient in Alkaptonuria?
Phenylalanine hydroxylase
Cystathionine synthase
Homogentisic acid oxidase
Tyrosinase
2
[ "Alkaptonuria" ]
Question: Enzyme deficient in Alkaptonuria? Choices: A. Phenylalanine hydroxylase B. Cystathionine synthase C. Homogentisic acid oxidase D. Tyrosinase Answer:
Which of the following is used to treat Alkaptonuria?
Vitamin A
Vitamin C
Vitamin D
Vitamin K
1
[ "Alkaptonuria" ]
Question: Which of the following is used to treat Alkaptonuria? Choices: A. Vitamin A B. Vitamin C C. Vitamin D D. Vitamin K Answer:
Which substance gets accumulated in abnormal amounts in Alkaptonuria
Acetoacetate
Oxalate
Homogentisate
Phenylacetic acid
2
[ "Alkaptonuria" ]
Question: Which substance gets accumulated in abnormal amounts in Alkaptonuria Choices: A. Acetoacetate B. Oxalate C. Homogentisate D. Phenylacetic acid Answer:
Which is false about Alkaptonuria?
Genitourinary system not involved
Hemogentistic oxidase deficiency
Black urine
Calcification in veebral bodies
0
[ "Alkaptonuria" ]
Question: Which is false about Alkaptonuria? Choices: A. Genitourinary system not involved B. Hemogentistic oxidase deficiency C. Black urine D. Calcification in veebral bodies Answer:
Treatment of Alkaptonuria:
Vitamin A
Vitamin C
Vitamin D
Vitamin K
1
[ "Alkaptonuria" ]
Question: Treatment of Alkaptonuria: Choices: A. Vitamin A B. Vitamin C C. Vitamin D D. Vitamin K Answer:
Enzyme deficiency in Alkaptonuria is
Tyrosine hydroxylase
Homogentisate acid oxidase
Phenyl alanine hydroxylase
Cystathione synthase
1
[ "Alkaptonuria" ]
Question: Enzyme deficiency in Alkaptonuria is Choices: A. Tyrosine hydroxylase B. Homogentisate acid oxidase C. Phenyl alanine hydroxylase D. Cystathione synthase Answer:
In Alkaptonuria deficiency is:
Phosphofructo kinase
HMG CoA reductase
Homogentisate oxidase
Xanthine oxidase
2
[ "Alkaptonuria" ]
Question: In Alkaptonuria deficiency is: Choices: A. Phosphofructo kinase B. HMG CoA reductase C. Homogentisate oxidase D. Xanthine oxidase Answer:
Alkaptonuria is a metabolic disease caused by a defect in or lack of homogentisic acid oxidase which lead to
Absent patella
Blue sclera
Darkly pigmented sclera cornea & ear
Absent radii
2
[ "Alkaptonuria" ]
Question: Alkaptonuria is a metabolic disease caused by a defect in or lack of homogentisic acid oxidase which lead to Choices: A. Absent patella B. Blue sclera C. Darkly pigmented sclera cornea & ear D. Absent radii Answer:
Calcification of intervertebral disc is seen in – a) Goutb) Rheumatoid c) Alkaptonuriad) Psoriasis
ac
bc
ad
b
0
[ "Alkaptonuria" ]
Question: Calcification of intervertebral disc is seen in – a) Goutb) Rheumatoid c) Alkaptonuriad) Psoriasis Choices: A. ac B. bc C. ad D. b Answer:
Alkaptonuria is due to deficiency of
Alkaptonase
Tyrosinase
Phenylalanine hydroxylase
Homogentisic acid oxidase
3
[ "Alkaptonuria" ]
Question: Alkaptonuria is due to deficiency of Choices: A. Alkaptonase B. Tyrosinase C. Phenylalanine hydroxylase D. Homogentisic acid oxidase Answer:
All of the following are used in Alopecia Areata except
Tacrolimus
Acitretin
Steroids
Phototherapy
1
[ "Alopecia Areata" ]
Question: All of the following are used in Alopecia Areata except Choices: A. Tacrolimus B. Acitretin C. Steroids D. Phototherapy Answer:
Which one of the following is NOT true of Ameloblastoma -
Most common odontogenic tumour
Generally benign
Common in 3rd to 5th decade
Arises from mesenchymal tissue
3
[ "Ameloblastoma" ]
Question: Which one of the following is NOT true of Ameloblastoma - Choices: A. Most common odontogenic tumour B. Generally benign C. Common in 3rd to 5th decade D. Arises from mesenchymal tissue Answer:
True about Ameloblastoma: (PGI Dec 2006)
Cystic lesion
Rapidly growing
Malignant disease
MC site is Tibia
0
[ "Ameloblastoma" ]
Question: True about Ameloblastoma: (PGI Dec 2006) Choices: A. Cystic lesion B. Rapidly growing C. Malignant disease D. MC site is Tibia Answer:
Ameloblastoma most frequently occurs in
Mandibular molar region
Maxillary molar region
Mandibular premolar region
Maxillary premolar region
0
[ "Ameloblastoma" ]
Question: Ameloblastoma most frequently occurs in Choices: A. Mandibular molar region B. Maxillary molar region C. Mandibular premolar region D. Maxillary premolar region Answer:
True about Ameloblastoma -a) Cystic lesionb) Rapidly growingc) Malignant diseased) MC site is Tibiae) Presented in children
ae
b
ab
ad
0
[ "Ameloblastoma" ]
Question: True about Ameloblastoma -a) Cystic lesionb) Rapidly growingc) Malignant diseased) MC site is Tibiae) Presented in children Choices: A. ae B. b C. ab D. ad Answer:
Congo red staining of abdominal fat has confirmed a diagnosis of Amyloidosis in a 28-year-old man. Which is the most common cause of death in primary AL Amylodosis?
Respiratory failure
Cardiac failure
Renal failure
Septicemia
1
[ "Amyloidosis" ]
Question: Congo red staining of abdominal fat has confirmed a diagnosis of Amyloidosis in a 28-year-old man. Which is the most common cause of death in primary AL Amylodosis? Choices: A. Respiratory failure B. Cardiac failure C. Renal failure D. Septicemia Answer:
Amyloidosis of hea presents with -
Arrhythmia
AV block
|Ed mass/voltage
AS
0
[ "Amyloidosis" ]
Question: Amyloidosis of hea presents with - Choices: A. Arrhythmia B. AV block C. |Ed mass/voltage D. AS Answer:
Which type of Amyloidosis is caused by mutation of the transthyretin protein ?-
Familial Mediterranean fever
Familial amyloidotic polyneuropathy
Dialysis associated amyloidosis
Prion protein associated amyloidosis
1
[ "Amyloidosis" ]
Question: Which type of Amyloidosis is caused by mutation of the transthyretin protein ?- Choices: A. Familial Mediterranean fever B. Familial amyloidotic polyneuropathy C. Dialysis associated amyloidosis D. Prion protein associated amyloidosis Answer:
Amyloidosis is most commonly seen in ?
Maturity onset DM
Type I DM
Type H DM
HTN
2
[ "Amyloidosis" ]
Question: Amyloidosis is most commonly seen in ? Choices: A. Maturity onset DM B. Type I DM C. Type H DM D. HTN Answer:
Amyloidosis is commonly associated with:
Chronic osteomyelitis
Periostitis
Acute osteomyelitis
Multiple myeloma
3
[ "Amyloidosis" ]
Question: Amyloidosis is commonly associated with: Choices: A. Chronic osteomyelitis B. Periostitis C. Acute osteomyelitis D. Multiple myeloma Answer:
Amyloidosis causes which type of cardiomyopathy?
Constrictive
Restrictive
Hypertrophic
Any of the above
1
[ "Amyloidosis" ]
Question: Amyloidosis causes which type of cardiomyopathy? Choices: A. Constrictive B. Restrictive C. Hypertrophic D. Any of the above Answer:
Polyneuropathy is seen in -a) Vitamin deficiencyb) Osteoporosisc) DMd) Myxoedemae) Amyloidosis
bce
acde
abcd
abde
1
[ "Amyloidosis" ]
Question: Polyneuropathy is seen in -a) Vitamin deficiencyb) Osteoporosisc) DMd) Myxoedemae) Amyloidosis Choices: A. bce B. acde C. abcd D. abde Answer:
Amyloidosis is seen in which type of diabetes mellitus?
Maturity onset DM
Type I DM
Type II DM
all of the above
2
[ "Amyloidosis" ]
Question: Amyloidosis is seen in which type of diabetes mellitus? Choices: A. Maturity onset DM B. Type I DM C. Type II DM D. all of the above Answer:
Small intestinal biopsy is specific for-a) Tropical sprueb) Celiac spruec) Whipple's diseased) Amyloidosis
cd
bc
bd
ac
0
[ "Amyloidosis" ]
Question: Small intestinal biopsy is specific for-a) Tropical sprueb) Celiac spruec) Whipple's diseased) Amyloidosis Choices: A. cd B. bc C. bd D. ac Answer:
Amyloidosis mostly affects
Liver
Tounge
Colon
Hea
3
[ "Amyloidosis" ]
Question: Amyloidosis mostly affects Choices: A. Liver B. Tounge C. Colon D. Hea Answer:
Confirmatory test for the diagnosis ofAmyloidosis is?
Diagnostic peritoneal lavage
Tongue biopsy
Rectal biopsy
Whole body CT scan
2
[ "Amyloidosis" ]
Question: Confirmatory test for the diagnosis ofAmyloidosis is? Choices: A. Diagnostic peritoneal lavage B. Tongue biopsy C. Rectal biopsy D. Whole body CT scan Answer:
Amyloidosis shown in Cardiac muscle is mainly due to …….. fibril
AL
AA
AANF
ATTR
3
[ "Amyloidosis" ]
Question: Amyloidosis shown in Cardiac muscle is mainly due to …….. fibril Choices: A. AL B. AA C. AANF D. ATTR Answer:
Major fibril protein in Primary Amyloidosis is ?
AL
AA
Transthyretin
Procalciton
0
[ "Amyloidosis" ]
Question: Major fibril protein in Primary Amyloidosis is ? Choices: A. AL B. AA C. Transthyretin D. Procalciton Answer:
Major fibril protein in Primary Amyloidosis is -
AL
AA
Transthyretin
Procalcitonin
0
[ "Amyloidosis" ]
Question: Major fibril protein in Primary Amyloidosis is - Choices: A. AL B. AA C. Transthyretin D. Procalcitonin Answer:
Confirmatory test for the diagnosis of Amyloidosis-
Diagnostic peritoneal lavage
Tongue biopsy
Rectal biopsy
Whole body CT scan
2
[ "Amyloidosis" ]
Question: Confirmatory test for the diagnosis of Amyloidosis- Choices: A. Diagnostic peritoneal lavage B. Tongue biopsy C. Rectal biopsy D. Whole body CT scan Answer:
Confirmatory test for the diagnosis of Amyloidosis is:
Diagnostic peritoneal lavage
Tongue biopsy
Rectal biopsy
Whole body CT scan
2
[ "Amyloidosis" ]
Question: Confirmatory test for the diagnosis of Amyloidosis is: Choices: A. Diagnostic peritoneal lavage B. Tongue biopsy C. Rectal biopsy D. Whole body CT scan Answer:
Amyloidosis of heart presents with -a) Arrhythmiab) AV blockc) ↑ed mass/voltage d) Hypertrophic cardiomyopathy
ab
abc
acd
bcd
1
[ "Amyloidosis" ]
Question: Amyloidosis of heart presents with -a) Arrhythmiab) AV blockc) ↑ed mass/voltage d) Hypertrophic cardiomyopathy Choices: A. ab B. abc C. acd D. bcd Answer:
Amyloidosis is most commonly seen in-
Maturity onset DM
Type I DM
Type II DM
HTN
2
[ "Amyloidosis" ]
Question: Amyloidosis is most commonly seen in- Choices: A. Maturity onset DM B. Type I DM C. Type II DM D. HTN Answer:
Which type ofAmyloidosis is caused by mutation of the transthyretin protein ?
Familial Mediterranean fever
Familial amyloidotic polyneuropathy
Dialysis associated amyloidosis
Prion protein associated amyloidosis
1
[ "Amyloidosis" ]
Question: Which type ofAmyloidosis is caused by mutation of the transthyretin protein ? Choices: A. Familial Mediterranean fever B. Familial amyloidotic polyneuropathy C. Dialysis associated amyloidosis D. Prion protein associated amyloidosis Answer:
Amyloidosis is most commonly seen in
Maturity onset DM
Type1DM
Type2DM
Equally seen with all forms of DM
2
[ "Amyloidosis" ]
Question: Amyloidosis is most commonly seen in Choices: A. Maturity onset DM B. Type1DM C. Type2DM D. Equally seen with all forms of DM Answer:
Amyloidosis is?
RNA misfolding
DNA repair defect
Mitochondrial defect
Misfolding of protein
3
[ "Amyloidosis" ]
Question: Amyloidosis is? Choices: A. RNA misfolding B. DNA repair defect C. Mitochondrial defect D. Misfolding of protein Answer:
Paraneoplastic syndrome not seen in renal cell cancer is?a) Acanthosis nigricansb) Amyloidosisc) Polycythemiad) SLE
b
c
ad
ab
2
[ "Amyloidosis" ]
Question: Paraneoplastic syndrome not seen in renal cell cancer is?a) Acanthosis nigricansb) Amyloidosisc) Polycythemiad) SLE Choices: A. b B. c C. ad D. ab Answer:
Bone marrow in Amyloid Lightchain Amyloidosis shows which of the following features?
Bone marrow plasmacytosis
Granulomatous reaction
Fibrosis
Giant cell formation
0
[ "Amyloidosis" ]
Question: Bone marrow in Amyloid Lightchain Amyloidosis shows which of the following features? Choices: A. Bone marrow plasmacytosis B. Granulomatous reaction C. Fibrosis D. Giant cell formation Answer:
Amyloidosis deposition most commonly occurs in:
Renal vessels
Knee joints
Skin
Cornea
0
[ "Amyloidosis" ]
Question: Amyloidosis deposition most commonly occurs in: Choices: A. Renal vessels B. Knee joints C. Skin D. Cornea Answer:
Amyloidosis most commonly affects -
Liver
Tongue
Colon
Hea
3
[ "Amyloidosis" ]
Question: Amyloidosis most commonly affects - Choices: A. Liver B. Tongue C. Colon D. Hea Answer:
Which type of Amyloidosis is caused by the mutation of a transthyretin protein?
Dialysis associated amyloidosis
Familial Mediterranean fever
Familial amyloidotic polyneuropathy
Prion protein associated amyloidosis
2
[ "Amyloidosis" ]
Question: Which type of Amyloidosis is caused by the mutation of a transthyretin protein? Choices: A. Dialysis associated amyloidosis B. Familial Mediterranean fever C. Familial amyloidotic polyneuropathy D. Prion protein associated amyloidosis Answer:

Dataset Card for ReDis-QA

Dataset Summary

ReDis-QA dataset contains 1360 multi-choice questions focusing on rare disease diagnosis. It consists of 11%, 33%, 13%, 15%, 18% of the questions corresponding to the symptoms, causes, affects, related-disorders, diagnosis of rare diseases, respectively. The remaining 9% of the questions pertain to other properties of the diseases.

ReDis-QA dataset widely covers 205 types of rare diseases, where the most frequent disease features over 100 questions.

Belows are examples of each property.

Property Example
Symptom Question: About Achalasia Cardia:
1. Dysphagia is a presenting symptom
2. The cause is the absence of Auerbach's plexus
3. Esophagec-tomy is the treatment
4. Motility improving agents are used in treatment
5. Barium swallow shows irregular filling defects in lower esophagus
Choices: (A) 1,2,3 False & 4,5 True (B) 1,2,4 True & 3,5 False (C) 2,3,4 True & 1,5 False (D) 1,3,5 True & 2,4 False
Golden Answer: B
Causes Question: A mother brings her 1-year-old daughter to the physician. She says that for the last 2 days her daughter has been fussy and crying more than usual. She also refuses formula. The patient has a fever of 39.4degC (102.9degF). Meningitis is suspected, and a lumbar puncture is performed. Analysis of the cerebrospinal fluid shows an opening pressure of 98 mm H2O, a leukocyte count of 1256/mm3, a protein level of 210 mg/dL, and a glucose level of 31 mg/dL. The mother says that the patient has received no immunizations. Which of the following organisms is most likely responsible for this patient's illness?
Choices: (A) Clostridium botulinum (B) Haemophilus influenza (C) Neisseria meningitides (D) Streptococcus pneumonia
Golden Answer: B
Affects Question: 23 years old female comes to OG, because she thinks pregnant. She missed her last two cycles and she feels different. Urine pregnancy test was positive. On USG, the pregnancy was confirmed to be 12 weeks. She is very concerned because she received Measles Mumps Rubella vaccine 4 months ago and she was told to wait for 3 months to conceive. The pregnancy is desired. The most appropriate step is
Choices: (A) Vaccine risk is minimal, not itself a reason to terminate the pregnancy. (B) Vaccine risk is nil, termination is completely inappropriate. (C) Vaccine risk is high, termination should be strongly considered. (D) Vaccine risk is high, termination is mandated.
Golden Answer: A
Related-disorders Question: A 35-year-old female presented to the medicine OPD with paresthesias and weakness of B/L lower limbs with a band like sensation of tightness around the torso along with painful loss of vision in both eyes along with diplopia and periorbital pain.} There is a history of similar attacks in the past with period of normalcy in between O/E, Ataxia- present Papillitis (on fundus examination) Facial myokymia Bladder incontinence and constipation CSF studies revealed mononuclear cell pleocytosis along with increased IgG. Which of the following are the oral drugs approved for the above condition: 1. Fingolimod 2. Natalizumab 3. Teriflunomide 4. Glatiramer acetate
Choices: (A) Only 1 (B) Both 1 and 3 (C) 1,2 and 3 (D) All of the above
Golden Answer: A
Diagnosis Question: A 29-year-old man is seen in the office after returning from a hiking trip in Colorado. He complains of feeling unwell and reports symptoms of fever, myalgia, headache, and nausea. Two days ago, he noticed a rash on his wrists and ankles that has now spread to his body. He recalls having had numerous insect bites during his trip. On examination, his blood pressure is 90/60 mmHg, pulse 100/min, and respira- tions 20/min. There are multiple 1-5 mm macules on his body and some of them have a hemorrhagic center consistent with a petechia. His neck is supple and fundi are normal. The heart sounds are normal, lungs clear, and legs are edematous. Cranial nerve, motor, and sensory examination is normal. A clinical diagnosis of Rocky Mountain Spotted Fever (RMSF) is made and he is started on appropriate therapy. Which of the following is the most common type of central nervous system (CNS) presentation in this condition?
Choices: (A) Hemiplegia (B) Cranial nerve abnormalities (C) Paraplegia (D) Encephalitis
Golden Answer: D

Loading Dataset

Simply follow the instructions to test your models on the ReDis-QA dataset:

import datasets
eval_dataset = datasets.load_dataset(f"guan-wang/ReDis-QA")
for data_idx, data_instance in enumerate(eval_dataset):
    print(data_idx, data_instance["input"])

Benchmark Results of LLMs

Benchmark results of Llama-2-7B-chat, Mistral-7B-instruct-v0.2, Phi-3-7B-instruct, Gemmma-1.1-7B-it, and Qwen-2-7B-Instruct. More details refers to our benchmark repository ReDis-QA-Bench.

Citation Information

If you find this dataset useful to your project, we appreciate you citing this work:

@article{wang2024assessing,
  title={Assessing and Enhancing Large Language Models in Rare Disease Question-answering},
  author={Wang, Guanchu and Ran, Junhao and Tang, Ruixiang and Chang, Chia-Yuan and Chuang, Yu-Neng and Liu, Zirui and Braverman, Vladimir and Liu, Zhandong and Hu, Xia},
  journal={arXiv preprint arXiv:2408.08422},
  year={2024}
}
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