3. Rules
• Cheating will not be tolerated in any form. Any
form of cheating, if spotted by a volunteer, will
result in immediate disqualification.
• Please keep your phones on the table in front of
you.
• QMs are gods.
• Star marked questions will be used as tie-
breakers. In case of a further tie, sudden death
from the first question onwards will decide the
finalists.
• 6 teams move on to the mains.
4. Q1 (1)
• Get the numbers and give us the sum
• 1. Triple negative breast cancer is associated
more with which number BRCA gene.
• 2. Islet amyloidosis is associated with this type
of diabetes.
• 3. Allgrove syndrome is called by this name.
• 4. The cardinal signs of inflammation by Celsus
are __ in number.
5. Q2* (1)
• Which clinical manifestation of SLE has not
been given place in SLICC 2012 criterion but
was present in ACR 1996?
6. Q3 ( 0.5 each)
Match the following:
1. Von Kossa A. Mucus
2. Alcian Blue B. Elastin
3. Weigert’s C. Bilirubin
4. Kluver Berrera D. Myelin
5. Hall’s E. Calcium
6. Rhodanine F. Copper
7. Q4* (1+1)
•If a human were to
start resembling
this, what disease
would you suspect?
•Which organism is
implicated in the
pathogenesis of the
disease?
8. Q5 (1)
• NAFLD is a disease associated with obesity and insulin
resistance. It includes a spectrum of liver pathologies
and different clinical prognoses ranging from hepatic
steatosis to the most clinically ominous extremes:
cirrhosis and primary hepatic malignancies. Serum
transaminases reliably reflect the severity of the
disease.
• Name two surrogate epithelial cytoskeletal protein
markers that appear to parallel the severity of liver
fibrosis and help differentiate NASH from other causes
of simple hepatic steatosis.
9. Q6(1)
• A 32-year-old male presented to the emergency because of
drowsiness, fever, cough, diffuse abdominal pain, and vomiting.
• On examination he was tachypneic, his temperature was 39° C (102.2°
F), pulse rate 104 beats per minute, respiratory rate 24 breaths per
minute, supine blood pressure 100/70 mmHg; he also had dry mucous
membranes, poor skin turgor, and rales in the right lower chest. He
was slightly confused.
• Rapid hematology and biochemical tests showed hematocrit 48%,
hemoglobin 14.3 g/dl (143 g/L), white blood cell count 18,000/ μ l,
glucose 450 mg/dl (25.0 mmol/L), urea 60 mg/dl (10.2 mmol/L),
creatinine 1.4 mg/dl (123.7 μ mol/L), Na+ 152 mEq/L, K+ 5.3 mEq/L,
PO4
3- 2.3mEq/L (0.74 mmol/L), and Cl- 110 mmol/L. Arterial pH was
6.9, pO2 95 mmHg, pCO2 28 mmHg, HCO3
- 9mEq/L, and O2 sat 98%.
• Diagnosis?
10. Q7 (1)*
• In the previous case, 3 days after the patient was
discharged, he developed ataxia, resting tremors
and a disturbance in rump balance. In the
following days the patient developed an
increasingly incomprehensible speech and ptosis
of the right eye. Subsequently, the patient’s
neurological status deteriorated eventually
leading to a ‘locked in’ state, when he was only
able to open and move his eyes.
• What is the most likely diagnosis?
11. Q8(1)
• On the daytime soap opera General Hospital,
it was believed that Monica's husband Alan
could not have been the father of her child, as
Alan's blood was AB, Monica's was A, and the
child's was thought to be O. However after
subsequent investigations it was eventually
revealed that Alan was indeed the father. How
could this be possible?
12. Q8 (1)
• A 13-year old male patient with no history of consanguinity in the
family presented with large patches of cutaneous pigmentation
present since birth and multiple bony deformities developing for
the last 5 years.
• The patient had gradually developing bony deformities of both
lower limbs and right upper limb along with scoliosis and inability to
walk without assistance. The patient had pain in the bones and had
multiple pathological fractures occurring from time to time, which
healed at a normal rate but with deformities.
• The patient had normal developmental milestones and normal
intelligence. He had started to develop secondary sexual characters
at the age of 9 years.
• Diagnose the disease and give the genetic basis behind it.
(Images on next pages)
13.
14.
15. Q9 (1)
• A 30 year old woman A presented to
gynaecology OPD with a mass
protruding PV. While she was sitting
in the queue, she met another
woman who had brought her two
year old girl B with a similar
complaint. On examination of these
patients, the doctor observed that
both had grape like clustered mass
protruding out per vaginum.
• Identify the lesions in A and B.
(0.5 each)
16. Q10 (1)
• Leading to activated protein C resistance, ________
is the most common hereditary hypercoagulability
disorder amongst ethnic Europeans.
• It is named after the Dutch city, where it was first
identified in 1994 by Prof R. Bertina.
• Identify
18. Q12 (1)
• Why are splenectomized patients particularly
susceptible to infections with capsulated
organisms?
19. Q13 (1)
• A 6 month old male infant has
failure to thrive and
abdominal enlargement. His
parents are concerned that he
has shown minimal movement
since birth. On physical
examination, the infant has
marked muscle weakness and
hepatosplenomegaly. A chest
radiograph shows marked
cardiomegaly. He dies of
congestive heart failure at age
19 months. The microscopic
appearance of myocardial
fibres at autopsy is shown in.
• A deficiency of which enzyme
is most likely to be present in
this infant?
20. Q14 (1)
• 45 year old man, chronic alcoholic, presented to
the emergency with severe abdominal pain,
nausea and vomiting. On physical examination,
the following was seen.
Which of the following is the least likely finding?
1) Hypocalcemia
2) Hyperbilirubinemia
3) Hypoglycemia
4) Hypertriglyceridemia
22. Q16 (1+1)*
• A seven-year-old boy was referred with fever, coughing and fatigue. He had
received ampicillin-sulbactam and clarithromycin with the diagnosis of
pneumonia and acute otitis media for three days at a local hospital. It was
learned that he had previously been hospitalised for pneumonia for five times,
had bilateral otitis media which was treatment-resistant for the last two years
and had been suffering from upper air way infection 8 - 10 times per year.
• Laboratory tests were as follows: white blood cells, 3850/mL (neutrophils 88%
and lymphocytes 12%); hemoglobin, 8 g/dL; platelets, 357 × 103 /mL; serum
immunoglobulin (Ig)G, IgA and IgM levels, 145 (normal range: 340 - 1200), 26
(30 - 230), and 29 (40 - 200) mg/dL, respectively. Markedly reduced levels of B
cells (CD 19+ cells) in the peripheral circulation (0.06%) were observed by flow
cytometric analysis. Biochemical and urine analysis were within normal levels.
Antibodies against viral pathogens including cytomegalovirus, herpes simplex
virus, rubella, toxoplasma, parvovirus B19 and hepatitis A, B, C viruses were
negative.
1. Diagnosis?
2. Why is this patient not particularly susceptible to intracellular infections?
23. Q17 (1)
• A 55 year old woman with end stage renal
failure due to chronic glomerulonephritis, is
on maintenance hemodialysis for 14 years.
She was hospitalized for severe pain,
numbness and paraesthesia in both wrists,
with decreased grip strength.
• Most likely diagnosis?
24. Q18 (1+0.5)
• A 23-year-old female presented with a history of progressive renal illness since childhood.
She gave history of recurrent episodes of oedema of the face and feet. For the last 2 years
she had attacks of gross haematuria. Based on a diagnosis of nephrotic syndrome, the patient
was treated elsewhere with systemic steroids several times previously. A renal biopsy done 5
years earlier showed diffuse mesangial proliferation with focal thickening. There was no
other similar illness in the family.
• At the time of presentation her main complaint was fatiguability. Systemic evaluation was
normal except for anaemia. Her biochemical workup revealed increased blood urea (123
mg/dl) and serum creatinine (8.7 mg/dl). There was borderline hyponatremia and
hypokalemia. Urine examination showed proteinuria and microscopic haematuria. Bilateral
small kidneys (8.5 X 3.8 cm right; 8.5 X 3.6 cm left) with grade 2 parenchymal changes were
noted on ultrasonography. Audiometry detected a bilateral moderate sensorineural hearing
loss.
• Based on the above findings, the treating physician made a provisional diagnosis and the
patient was sent for an ophthalmology referral.
1. What is the provisional diagnosis?
2. What is the characteristic finding observed by the ophthalmologist?
26. Q20 (1)
• A 32-year-old young woman presented to the OPD suffering
from cough, laboured respiration and weakness. She had
history of a myomectomy 1 month earlier. Chest CT showed
multiple small well-defined scattered pulmonary nodules in
both lungs. Serum tumour markers CA125 and CA199 were
normal. The patient underwent a lung biopsy by
thoracoscopic surgery after four weeks of ATT; there were
no significant changes in the chest CT. H&E staining showed
spindle shaped tumour cells and immunohistochemical
staining was positive for smooth muscle actin (SMA) and
Desmin; and showed a low tumour proliferation index.
• Diagnosis?
27. Q21 (1)
The following were statements given by X foundation in 2011:
• As more has been learned about the disease, it has become clear
that it is a highly complex entity with diverse symptoms, signs, and
outcomes, and the name Y does not adequately represent an
understanding of the disease.
• Diseases named after people are called “eponyms” and the use of
such eponyms is not uniform, and is often confusing.
• In some cases, the eponym is named for people who were not the
first or necessarily the most important describers of the
diseases. Furthermore, these names don’t reflect a basic scientific
understanding of the diseases.
• In the case of Y, additional concerns about Y’s involvement with the
Nazi regime provided further reason to agree on a new name that
was also more scientifically descriptive.
Give Funda/Give Y
29. Q23 (1)
• In the past decade, there has been an increase
in the incidence of esophageal cancer and a
decrease in the incidence of gastric cancer
• This can be explained by what?
30. Q24 (0.5 each)
• Apoptosis involves a multicascade of various cyto-
lethal proteins which enhance cellular degeneration.
One such family of proteins that regulates this complex
process it the BCL2 family. This pro-apoptotic group
includes a very well known protein called BBC3 (BCL2
binding component-3) which is also known as X-
sharing its name with a multinational company
producing sports accessories.
• X is stimulated by another apoptotic gene Y (hidden in
X’s name)
• Identify X and Y
31. Q25 (1)
• A 50 year old female presents in emergency
with C/O palpitations and increased
sweating. There have been multiple episodes
like this in the past. She denies any H/O
anginal chest pain, syncope and orthopnoea.
• O/E- Febrile, BP= 160/10 mmHg, Pulse=
120bpm, RR= 23/min
Thyroid examination- Normal
P/A- Mass palpable, free from uterus.
Thyroid profile- TSH= 0.2mU/L(0.5-5mU/L), fT3=
40pmol/L(3.1-6pmol/L), fT4=105pmol/L(11-
21pmol/L)
Radioiodine uptake is shown;
Diagnosis?
35. Q1 (1)
• Get the numbers and give us the sum
• 1. Triple negative breast cancer is associated
more with which number BRCA gene.
• 2. Islet amyloidosis is associated with this type
of diabetes.
• 3. Allgrove syndrome is called by this name.
• 4. The cardinal signs of inflammation by Celsus
are __ in number.
39. Q3 ( 0.5 each)
Match the following:
1. Von Kossa A. Mucus
2. Alcian Blue B. Elastin
3. Weigert’s C. Bilirubin
4. Kluver Berrera D. Myelin
5. Hall’s E. Calcium
6. Rhodanine F. Copper
40. A3
1. Von Kossa A. Calcium
2. Alcian Blue B. Mucus
3. Weigert’s C. Elastin
4. Kluver Berrera D. Myelin
5. Hall’s E. Bilirubin
6. Rhodanine F. Copper
41. Q4* (1+1)
•If a human were to
start resembling
this, what disease
would you suspect?
•Which organism is
implicated in the
pathogenesis of the
disease?
43. Q5 (1)
• NAFLD is a disease associated with obesity and insulin
resistance. It includes a spectrum of liver pathologies
and different clinical prognoses ranging from hepatic
steatosis to the most clinically ominous extremes:
cirrhosis and primary hepatic malignancies. Serum
transaminases reliably reflect the severity of the
disease.
• Name two surrogate epithelial cytoskeletal protein
markers that appear to parallel the severity of liver
fibrosis and help differentiate NASH from other causes
of simple hepatic steatosis.
45. Q6(1)
• A 32-year-old male presented to the emergency because of
drowsiness, fever, cough, diffuse abdominal pain, and vomiting.
• On examination he was tachypneic, his temperature was 39° C (102.2°
F), pulse rate 104 beats per minute, respiratory rate 24 breaths per
minute, supine blood pressure 100/70 mmHg; he also had dry mucous
membranes, poor skin turgor, and rales in the right lower chest. He
was slightly confused.
• Rapid hematology and biochemical tests showed hematocrit 48%,
hemoglobin 14.3 g/dl (143 g/L), white blood cell count 18,000/ μ l,
glucose 450 mg/dl (25.0 mmol/L), urea 60 mg/dl (10.2 mmol/L),
creatinine 1.4 mg/dl (123.7 μ mol/L), Na+ 152 mEq/L, K+ 5.3 mEq/L,
PO4
3- 2.3mEq/L (0.74 mmol/L), and Cl- 110 mmol/L. Arterial pH was
6.9, pO2 95 mmHg, pCO2 28 mmHg, HCO3
- 9mEq/L, and O2 sat 98%.
• Diagnosis?
47. Q7 (1)*
• In the previous case, 3 days after the patient was
discharged, he developed ataxia, resting tremors
and a disturbance in rump balance. In the
following days the patient developed an
increasingly incomprehensible speech and ptosis
of the right eye. Subsequently, the patient’s
neurological status deteriorated eventually
leading to a ‘locked in’ state, when he was only
able to open and move his eyes.
• What is the most likely diagnosis?
49. Q8(1)
• On the daytime soap opera General Hospital,
it was believed that Monica's husband Alan
could not have been the father of her child, as
Alan's blood was AB, Monica's was A, and the
child's was thought to be O. However after
subsequent investigations it was eventually
revealed that Alan was indeed the father. How
could this be possible?
50. A8
• The child had Bombay blood group
• Both the parents were carriers of h-allele
51. Q8 (1)
• A 13-year old male patient with no history of consanguinity in the
family presented with large patches of cutaneous pigmentation
present since birth and multiple bony deformities developing for
the last 5 years.
• The patient had gradually developing bony deformities of both
lower limbs and right upper limb along with scoliosis and inability to
walk without assistance. The patient had pain in the bones and had
multiple pathological fractures occurring from time to time, which
healed at a normal rate but with deformities.
• The patient had normal developmental milestones and normal
intelligence. He had just started to develop secondary sexual
characters at the age of 9 years.
• Diagnose the disease and give the genetic basis behind it.
(Images on next pages)
52.
53.
54. A8
• McCune Albright syndrome
(Coast of Maine café-au-lait pigmentation and
Shepherd’s crook deformity, indicative of fibrous
dysplasia)
• Gain-of-function mutation in GNAS.
55. Q9 (1)
• A 30 year old woman A presented to
gynaecology OPD with a mass
protruding PV. While she was sitting
in the queue, she met another
woman who had brought her two
year old girl B with a similar
complaint. On examination of these
patients, the doctor observed that
both had grape like clustered mass
protruding out per vaginum.
• Identify the lesions in A and B.
(0.5 each)
57. Q10 (1)
• Leading to activated protein C resistance, ________
is the most common hereditary hypercoagulability
disorder amongst ethnic Europeans.
• It is named after the Dutch city, where it was first
identified in 1994 by Prof R. Bertina.
• Identify
60. A11
• Cigarette smoking is protective for all of these
diseases
Parkinson’s (festinant gait)
Ulcerative colitis (mucosal bridges)
Leiomyomas
Pre-eclampsia (failure of vascular remodelling)
61. Q12 (1)
• Why are splenectomized patients particularly
susceptible to infections with capsulated
organisms?
62. A12
• The main mechanism for the clearance of
capsulated organism is opsonization by IgG
and C3, followed by digestion by splenic
macrophages.
63. Q13 (1)
• A 6 month old male infant has
failure to thrive and
abdominal enlargement. His
parents are concerned that he
has shown minimal movement
since birth. On physical
examination, the infant has
marked muscle weakness and
hepatosplenomegaly. A chest
radiograph shows marked
cardiomegaly. He dies of
congestive heart failure at age
19 months. The microscopic
appearance of myocardial
fibres at autopsy is shown in.
• A deficiency of which enzyme
is most likely to be present in
this infant?
65. Q14 (1)
• 45 year old man, chronic alcoholic, presented to
the emergency with severe abdominal pain,
nausea and vomiting. On physical examination,
the following was seen
Which of the following is the least likely finding?
1) Hypocalcemia
2) Hyperbilirubinemia
3) Hypoglycemia
4) Hypertriglyceridemia
69. Q16 (1+1)*
• A seven-year-old boy was referred with fever, coughing and fatigue. He had
received ampicillin-sulbactam and clarithromycin with the diagnosis of
pneumonia and acute otitis media for three days at a local hospital. It was
learned that he had previously been hospitalised for pneumonia for five times,
had bilateral otitis media which was treatment-resistant for the last two years
and had been suffering from upper air way infection 8 - 10 times per year.
• Laboratory tests were as follows: white blood cells, 3850/mL (neutrophils 88%
and lymphocytes 12%); hemoglobin, 8 g/dL; platelets, 357 × 103 /mL; serum
immunoglobulin (Ig)G, IgA and IgM levels, 145 (normal range: 340 - 1200), 26
(30 - 230), and 29 (40 - 200) mg/dL, respectively. Markedly reduced levels of B
cells (CD 19+ cells) in the peripheral circulation (0.06%) were observed by flow
cytometric analysis. Biochemical and urine analysis were within normal levels.
Antibodies against viral pathogens including cytomegalovirus, herpes simplex
virus, rubella, toxoplasma, parvovirus B19 and hepatitis A, B, C viruses were
negative.
1. Diagnosis?
2. Why is this patient not particularly susceptible to intracellular infections?
70. A16
• The patient has recurrent infections, suggesting
an immunodeficiency disease.
All antibodies and B cells are depleted, suggesting a
block in the conversion of pre-B cells to B cells.
Diagnosis: Bruton’s agammaglobulinemia/X linked
agammaglobulinemia
• The patient is not particularly susceptible to
intracellular infections because the T-cell
mediated immunity functions normally.
71. Q17 (1)
• A 55 year old woman with end stage renal
failure due to chronic glomerulonephritis, is
on maintenance hemodialysis for 14 years.
She was hospitalized for severe pain,
numbness and paraesthesia in both wrists,
with decreased grip strength.
• Most likely diagnosis?
72. A17
• Carpal tunnel syndrome in b2-microglobulin
amyloidosis due to long term hemodialysis.
73. Q18 (1+0.5)
• A 23-year-old female presented with a history of progressive renal illness since
childhood. She gave history of recurrent episodes of oedema of the face and feet.
For the last 2 years she had attacks of gross haematuria. Based on a diagnosis of
nephrotic syndrome, the patient was treated elsewhere with systemic steroids
several times previously. A renal biopsy done 5 years earlier showed diffuse
mesangial proliferation with focal thickening. There was no other similar illness in
the family.
• At the time of presentation her main complaint was fatiguability. Systemic
evaluation was normal except for anaemia. Her biochemical workup revealed
increased blood urea (123 mg/dl) and serum creatinine (8.7 mg/dl). There was
borderline hyponatremia and hypokalemia. Urine examination showed proteinuria
and microscopic haematuria. Bilateral small kidneys (8.5 X 3.8 cm right; 8.5 X 3.6
cm left) with grade 2 parenchymal changes were noted on ultrasonography.
Audiometry detected a bilateral moderate sensorineural hearing loss.
• Based on the above findings, the treating physician made a provisional diagnosis
and the patient was sent for an ophthalmology referral.
1. What is the provisional diagnosis?
2. What is the characteristic finding observed by the ophthalmologist?
74. A18
• Nephrotic syndrome and bilateral
sensorineural hearing loss raises a suspicion of
Alport’s syndrome
• Characteristic finding: Anterior lenticonus
77. Q20 (1)
• A 32-year-old young woman presented to the OPD
suffering from cough, laboured respiration and
weakness. She had history of a myomectomy 1 month
earlier. Chest CT showed multiple small well-defined
scattered pulmonary nodules in both lungs. Serum
tumour markers CA125 and CA199 were normal. The
patient underwent a lung biopsy by thoracoscopic
surgery after four weeks of ATT; there were no significant
changes in the chest CT. H&E staining showed spindle
shaped tumour cells and immunohistochemical staining
was positive for smooth muscle actin (SMA) and desmin;
and showed a low tumour proliferation index.
• Diagnosis?
79. Q21 (1)
The following were statements given by X foundation in 2011:
• As more has been learned about the disease, it has become clear
that it is a highly complex entity with diverse symptoms, signs, and
outcomes, and the name Y does not adequately represent an
understanding of the disease.
• Diseases named after people are called “eponyms” and the use of
such eponyms is not uniform, and is often confusing.
• In some cases, the eponym is named for people who were not the
first or necessarily the most important describers of the
diseases. Furthermore, these names don’t reflect a basic scientific
understanding of the diseases.
• In the case of Y, additional concerns about Y’s involvement with the
Nazi regime provided further reason to agree on a new name that
was also more scientifically descriptive.
Give Funda/Give Y
80. A21
• Why the name of Wegener’s granulomatosis
was changed to Granulomatosis with
Polyangiitis
• X: Vasculitis
• Y: Wegener
83. Q23 (1)
• In the past decade, there has been an increase
in the incidence of esophageal cancer and a
decrease in the incidence of gastric cancer
• This can be explained by what?
84. A23
• Decreasing rates of infection with H pylori.
• H pylori leads to gastric atrophy which in turn leads
to reduced gastric acid secretion and reflux. Hence,
the reducing rates of H pylori infection has led to an
increase in esophageal cancer and a decrease in
gastric cancer.
85. Q24 (0.5 each)
• Apoptosis involves a multicascade of various cyto-
lethal proteins which enhance cellular degeneration.
One such family of proteins that regulates this complex
process it the BCL2 family. This pro-apoptotic group
includes a very well known protein called BBC3 (BCL2
binding component-3) which is also known as X-
sharing its name with a multinational company
producing sports accessories.
• X is stimulated by another apoptotic gene Y (hidden in
X’s name)
• Identify X and Y
87. Q25 (1)
• A 50 year old female presents in emergency
with C/O palpitations and increased
sweating. There have been multiple episodes
like this in the past. She denies any H/O
anginal chest pain, syncope and orthopnoea.
• O/E- Febrile, BP= 160/10 mmHg, Pulse=
120bpm, RR= 23/min
Thyroid examination- Normal
P/A- Mass palpable, free from uterus.
Thyroid profile- TSH= 0.2mU/L(0.5-5mU/L), fT3=
40pmol/L(3.1-6pmol/L), fT4=105pmol/L(11-
21pmol/L)
Radioiodine uptake is shown;
Diagnosis?