All of the following are true about Alzheimer's disease?
A. Number of Senile plaques correlate with age
B. Underlying tau proteins suggest neurodegeneration
C. Number of neurofibrillary tangles is associated with the severity of dementia
D. Extracellular inclusions can be found in the absence of intracellular inclusion.

1. HLA B27 maximum association is with?
     A. Ankylosing spondylitis
     B. Rheumatoid arthritis
     C. Osteoarthritis
     D. Juvenile rheumatoid arthritis

1. Vitamin K is given to patient of jaundice but PT remains unchanged. The problem cause is
     A. Obstructive jaundice
     B. Cirrhosis
     C. Hemolytic jaundice
     D. Biliary atresia

1. 48 year old women with history of seizures has presented with gross haematuria & left flank pain.Abdominal CT scan reveals-left perinephric hematoma with 3cm angiomyolipoma along with multiple right renal angiomyolipomas measuring from 1.5-6.5 cm. The most likely diagnosis is:

                  a. Tuberous sclerosis

                  b. Von Hippel Landau syndrome

                  c. Familial angiolipomatosis

                  d. ADPKD

Answer is A : tuberous sclerosis

References: chapter 596.2 NELSON and

http://emedicine.medscape.com/article/376848-overview#a20

MORE DETAILS ABOUT TUBEROUS SCLEROSIS FROM

RADIOLOGICAL PERSPECTIVE

1. The most common neurologic manifestations of Tuberous

Sclerosis consist of seizures, cognitive impairment, and behavioral

abnormalities including autism. The characteristic brain lesion is a

cortical tuber. Tubers are located in the convolutions of the cerebral

hemispheres and are also present in the subependymal region,

where they undergo calcification and project into the ventricular

cavity, producing a candle-dripping appearance. Generally, the

greater the number of tubers, the more neurologically impaired is

the patient.

2. TS may present during infancy with infantile spasms and a

hypsarrhythmic EEG pattern.

3. The seizures may be difficult to control and, at a later age, they may

develop into myoclonic epilepsy, infantile spasms associated with TS

are treated with vigabatrin (rather than adrenocorticotropic

hormone) with good results.

4. Angiomyolipomas are usually well-marginated, cortical

heterogeneous tumors with predominantly fatty attenuation; rarely,

higher attenuation is seen in patients who have tumors with

minimal fat content. The average attenuation depends on the

relative proportions of fat and other soft tissue in the

angiomyolipoma. In small masses, fat may be averaged out with

region-of-interest (ROI) circles, and pixel maps may be useful.

Attenuations of less than –20 Hounsfield units (HU) are widely

accepted as confirming the presence of fat; this finding virtually

confirms the diagnosis of angiomyolipoma

5. Histopathology of angiomyolipoma

o No true capsule

o Commonly bleed

o Tumor composed of fat, smooth muscle, aggregates of thick-walled blood

vessels

6. Types of angiomyolipoma

o Isolated angiomyolipoma is most common (80%)

1. Usually solitary

2. Unilateral (80% on right side)

3. Not associated with tuberous sclerosis

4. Mean age of incidence: 40s

5. Much more common in females

o Angiomyolipoma associated with tuberous sclerosis (in 20%)

1. Angiomyolipoma occurs in 80% of patients with tuberous

sclerosis

· Commonly large

· Usually bilateral

· Usually multiple

2. May be only evidence of tuberous sclerosis

3. Mean age of incidence: teens

4. Equal incidence in males and females

7. Signs and symptoms

o Small lesions are asymptomatic (60%)

o Acute flank / abdominal pain (due to hemorrhage) most common

presenting symptom

o Hematuria (40%)

o Palpable mass (47%)

o Shock (due to massive retroperitoneal hemorrhage)

8. Imaging findings

o Mostly small lesions <5 cm in diameter

o Many have a large exophytic component (25%)

o Calcifications not common (6%)

o Plain film findings

1. Mass of fat lucency is lesion is large enough

o CT findings

1. Well-marginated, cortical-based, heterogeneous tumor

predominantly of fat density (<-20 HU)

2. Variable enhancement (smooth muscle, vessels)

       2. Most effective management in medically intractable seizures?

                a. Ketotic diet

                b. Vagus nerve stimulation

                c. Deep brain stimulationn

               d. Surgery

Answer: D : surgery

Explaination:

The most common surgical procedure for patients with temporal lobe epilepsy

involves resection of the anteromedial temporal lobe (temporal lobectomy) or a

more limited removal of the underlying hippocampus and amygdala

(amygdalohippocampectomy).

· Focal seizures arising from extratemporal regions may be abolished by a focal

neocortical resection with precise removal of an identified lesion

(lesionectomy). When the cortical region cannot be removed, multiple subpial

transection, which disrupts intracortical connections, is sometimes used to

prevent seizure spread. Hemispherectomy or multilobar resection is useful for

some patients with severe seizures due to hemispheric abnormalities such as

hemimegalencephaly or other dysplastic abnormalities, and corpus callosotomy

has been shown to be effective for disabling tonic or atonic seizures, usually

when they are part of a mixed-seizure syndrome (e.g., Lennox-Gastaut

syndrome).

· Presurgical evaluation is designed to identify the functional and structural basis

of the patient's seizure disorder. Inpatient video-EEG monitoring is used to

define the anatomic location of the seizure focus and to correlate the abnormal

electrophysiologic activity with behavioral manifestations of the seizure.

Routine scalp or scalp-sphenoidal recordings are usually sufficient for

localization, and advances in neuroimaging have made the use of invasive

electrophysiologic monitoring such as implanted depth electrodes or subdural

electrodes less common. A high-resolution MRI scan is routinely used to identify

structural lesions, and this is sometimes augmented with MEG. Functional

imaging studies such as SPECT and PET are adjunctive tests that may help verify

the localization of an apparent epileptogenic region. Once the presumed location

of the seizure onset is identified, additional studies, including

neuropsychological testing and the intracarotid amobarbital test (Wada test)

may be used to assess language and memory localization and to determine the

possible functional consequences of surgical removal of the epileptogenic

region. In some cases, the exact extent of the resection to be undertaken is

determined by performing cortical mapping at the time of the surgical

procedure, allowing for a tailored resection. This involves electrocorticographic

recordings made with electrodes on the surface of the brain to identify the

extent of epileptiform disturbances. If the region to be resected is within or near

brain regions suspected of having sensorimotor or language function, electrical

cortical stimulation mapping is performed on the awake patient to determine

the function of cortical regions in question in order to avoid resection of socalled

eloquent cortex and thereby minimize postsurgical deficits.

· Advances in presurgical evaluation and microsurgical techniques have led

to a steady increase in the success of epilepsy surgery. Clinically significant

complications of surgery are <5%, and the use of functional mapping

procedures has markedly reduced the neurologic sequelae due to removal

or sectioning of brain tissue.

       3. Alzhiemers lobes affected?

               a. Frontal and temporal lobe

               b. Temporal and parietal lobe

               c. Parietal and occipital lobe

               d. Parietal and frontal lobe

Answer is B

Reference: Harrison 18th edition ,chapter 371 dementia

AD most often presents with an insidious onset of memory loss followed by a slowly

progressive dementia over several years. Pathologically, atrophy is distributed

throughout the medial temporal lobes, as well as lateral and medial parietal

lobes and lateral frontal cortex.

The main purpose of imaging is to exclude other disorders, such as primary and

secondary neoplasms, vascular dementia, diffuse white matter disease, and NPH; it

also helps to distinguish AD from other degenerative disorders with distinctive

imaging patterns such as FTD or CJD. Functional imaging studies in AD reveal

hypoperfusion or hypometabolism in the posterior temporal-parietal cortex.

       4. Which of the following statements is correct about raised ESR in tuberculosis?

               a. Its increased due to large RBC

               b. Its increased due to increase in immunoglobulins

               c. It is used to determine response for treatment

              d. It is an incidental finding. 

Answer: B: It’s increased due to increase in immunoglobulins

Reference:

1. Wintrobe hematology 11th edition page 60

2. http://emedicine.medscape.com/article/2085201-overview#a30

The erythrocyte sedimentation rate (ESR) is a common but nonspecific test that is

often used as an indicator of active disease.

Significant specific indications for ESR testing include the following:

· Diagnosis and monitoring of giant cell arteritis

· Diagnosis and monitoring of polymyalgia rheumatica

· Monitoring of rheumatoid arthritis

· Monitoring of systemic lupus Erythematosus

ESR reflects the tendency of red blood cells to settle more rapidly in the face of

some disease states, usually because of increases in plasma fibrinogen,

immunoglobulins, and other acute-phase reaction proteins. In addition, changes

in red cell shape or numbers may affect the ESR.

1. Sickle cells and polycythemia and spherocytosis tend to decrease the ESR,

whereas anemia may increase it.

2. Factors that increase ESR

· Old age

· Female

· Pregnancy

· Anemia

· Red blood cell abnormalities

· Macrocytosis

· Technical factors

· Dilutional problem

· Increased temperature of specimen

· Tilted ESR tube

· Elevated fibrinogen level

· Infection

· Inflammation

· Malignancy

3. ESR also increases with age in otherwise healthy people (although it tends

to fall in adults older than the age of 75 and tends to be higher in women.

4. People with liver diseases, carcinomas, or other serious diseases may have

a normal to low ESR because of an inability to produce the acute-phase

proteins.

The ESR is measured by the Westergren or Wintrobe method or by a modification of

these tests. Both are measured in millimeters per hour, but the normal values for

each method vary because of differences in tube length and shape. Both methods

require

correction for patient anemia. Several technical variations to the method of ESR

determination have been introduced, including micromethods, sedimentation at a

45-degree angle, and the zeta sedimentation rate. The zeta sedimentation rate

measures

erythrocyte packing in four 45-second cycles of dispersion and compaction in capillary

tubes. This requires a special instrument, the ZetafugeThe rate at which red blood cells

settle out when anticoagulated whole blood is allowed to stand is known as the

erythrocyte sedimentation rate.

The ESR is affected by the concentrations of immunoglobulins and acute phase

proteins (fibrinogen, C-reactive protein, alpha-1 antitrypsin, haptoglobin), and is a

sensitive, but nonspecific, indicator of inflammation and tissue damage

Conditions that may be associated with a highly elevated ESR (>100 mm/hr)

include the following:

· Hypersensitivity vasculitis

· Giant cell arteritis

· Waldenström macroglobulinemia

· Polymyalgia rheumatica

· Metastatic cancer

· Chronic infection

· Hyperfibrogenemia

1.  A 30 year old patient is having high grade fever with altered sensorium.

           On third day the patient develops seizures and has Nuchal rigidity. The CSF

           examination of the patient shows presence of 300 cells/cu.mm, protein

           70mg%, glucose 50mg% (BLOOD GLUCOSE= 95mg%) with polymorph 65%

           and the rest being lymphocytes. The most probable diagnosis of the patient is:

                  a. Herpetic encephalitis

                  b. Tubercular meningitis

                  c. Pyogenic meningitis

                  d. Cerebral malaria.

Answer is C: pyogenic meningitis

Reference: chapter 381 harrison 18 th edition

• Harrison states for viral encephalitis that “CSF examination should

be performed in all patients with suspected viral encephalitis unless

contraindicated by the presence of severely increased ICP. The

characteristic CSF profile is indistinguishable from that of viral

meningitis and typically consists of a lymphocytic pleocytosis, a

mildly elevated protein concentration, and a normal glucose

concentration.

• Polymorphonuclear pleocytosis occurs in 45% of patients with WNV

encephalitis and is also a common feature in CMV myeloradiculitis

in immunocompromised patients. Large numbers of CSF PMNs

may be present in patients with encephalitis due to EEE virus,

echovirus 9, and, more rarely, other enteroviruses. However,

persisting CSF neutrophilia should prompt consideration of

bacterial infection, leptospirosis, amebic infection, and

noninfectious processes such as acute hemorrhagic

leukoencephalitis.

   2.   A middle aged hypertensive male develops sudden onset unconsciousness,

         with nuchal rigidity. Rest of the neurological examination is within normal

         limits.

                  a. SAH

                  b. Intra-parenchymal bleed

                  c. Extra-dural hemorrhage

                 d. Sub dural haemorrhage.

Answer is A: SAH

Reference: Harrison 18 th edition chapter 275

• At the moment of aneurysmal rupture with major SAH, the ICP

suddenly rises. This may account for the sudden transient loss of

consciousness that occurs in nearly half of patients. Sudden loss of

consciousness may be preceded by a brief moment of excruciating

headache, but most patients first complain of headache upon regaining

consciousness. In 10% of cases, aneurysmal bleeding is severe enough

to cause loss of consciousness for several days. In 45% of cases, severe

headache associated with exertion is the presenting complaint. The

patient often calls the headache "the worst headache of my life";

however, the most important characteristic is sudden onset.Occasionally, these ruptures may present as headache of only moderate

intensity or as a change in the patient's usual headache pattern. The

headache is usually generalized, often with neck stiffness, and

vomiting is common.

• Although sudden headache in the absence of focal neurologic

symptoms is the hallmark of aneurysmal rupture, focal neurologic

deficits may occur. Anterior communicating artery or MCA bifurcation

aneurysms may rupture into the adjacent brain or subdural space and

form a hematoma large enough to produce mass effect. The deficits that

result can include hemiparesis, aphasia, and abulia.

• Occasionally, prodromal symptoms suggest the location of a

progressively enlarging unruptured aneurysm. A third cranial nerve

palsy, particularly when associated with pupillary dilation, loss of

ipsilateral (but retained contralateral) light reflex, and focal pain above

or behind the eye, may occur with an expanding aneurysm at the

junction of the posterior communicating artery and the internal carotid

artery. A sixth nerve palsy may indicate an aneurysm in the cavernous

sinus, and visual field defects can occur with an expanding supraclinoid

carotid or anterior cerebral artery aneurysm. Occipital and posterior

cervical pain may signal a posterior inferior cerebellar artery or

anterior inferior cerebellar artery aneurysm.

• Pain in or behind the eye and in the low temple can occur with an

expanding MCA aneurysm. Thunderclap headache if written in

question again favours diagnosis of SAH.

   3.   Pleural tap pierces all except :

                  a. skin

                  b. intercostal muscle

                  c. Endo-thoracic fascia

                 d. pulmonary pleura

Answer is D: Pulmonary pleura

Reference:

This question is probably testing English of doctors. Well we have common sense and

hence can solve this one. Each lung is invested by an exceedingly delicate serous

membrane, the pleura,which is arranged in the form of a closed invaginated sac. A

portion of the serous membrane covers the surface of the lung and dips into the

fissures between its lobes; it is called the pulmonary pleura (or visceral

pleura).Endothoracic fascia is layer of loose connective tissue that separates the ribs

and muscles from the underlying pleural.

The following layers are pierced during thoracocenteis/pleural tapping:

1. skin- superficial fascia

2. Serratus anterior

3. external intercostal

4. internal intercostal

5. innermost intercoastal

6. parietal pleura

7. pleural cavity is reached and fluid is accessed

1. In HIV infection all are affected except:
      a. Anterior Cingulate cortex
      b. Caudate nucleus
      c. Globus pallidus
      d. cerebral white matter
Answer is A. Anterior cingulate cortex
Reference: Harrison text book chapter 189
· HIV causes subcortical dementia and therefore you can see that
basal ganglia involvement is there. Cerebral white matter
involvement is mentioned in Harrison. Hence by exclusion the
answer is A.
· AIDS related dementia causes psychomotor slowing, apathy,
bradykinesia and altered posture and gait similar to those observed
in advanced Parkinson's disease. The dementia has the hallmarks
attributed to subcortical dementia. The exquisite sensitivity of many
of these patients to dopamine receptor blockade suggested a
profound and, perhaps, selective abnormality of striatal
dopaminergic systems.
· In contrast to "cortical" dementia (such as Alzheimer's disease),
aphasia, apraxia, and agnosia are uncommon, leading some
investigators to classify HIV encephalopathy as a "subcortical
dementia" characterized by defects in short-term memory and
executive function. In addition to dementia, patients with HIV
encephalopathy may also have motor and behavioral abnormalities.
Among the motor problems are unsteady gait, poor balance,
tremor, and difficulty with rapid alternating movements.
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Increased tone and deep tendon reflexes may be found in
patients with spinal cord involvement. Late stages may be
complicated by bowel and/or bladder incontinence. Behavioral
problems include apathy, irritability, and lack of initiative, with
progression to a vegetative state in some instances. Some patients
develop a state of agitation or mild mania. These changes usually
occur without significant changes in level of alertness. This is in
contrast to the finding of somnolence in patients with dementia due
to toxic/metabolic encephalopathies.
· HIV-associated dementia is the initial AIDS-defining illness in 3% of
patients with HIV infection and thus only rarely precedes clinical
evidence of immunodeficiency. Clinically significant encephalopathy
eventually develops in 25% of untreated patients with AIDS.

2. A patient has developed confusion and keeps bumping into objects. He
can speak fluently and on examination patient has inability to differentiate
between fingers, cannot write. On MRI T2 images show cortical and sub cortical
lesions.
      a. Gerstman syndrome
      b. Anton syndrome
     c. Millard Gubler syndrome
     d. Locked in syndrome

Gerstmann syndrome is characterized by four primary
symptoms:
1. Dysgraphia/agraphia: deficiency in the ability to
write.
2. Dyscalculia/acalculia: difficulty in learning or
comprehending mathematics.
3. Finger agnosia: inability to distinguish the fingers
on the hand.
4. Left-right disorientation.

3. Which can differentiate between seizures and syncope
      a. Unconsciousness
      b. Injury due to fall
      c. Urinary incontinence
      d. Tongue bite
Answer D
Reference : Harrrison 18th edition table 399-7.
Harrison mentions clearly that urinary incontinence which is the first thing that
comes to mind is present with both of these conditions. Injury due to fall can
occur in both . Unconsciousness will occur in both though the transition to
unconsciousness varies and so does the recovery.

4. All are true about iron deficiency anaemia?
      a. increased RDW > 14.5%
      b. decreased serum ferritin
      c. decreased Total iron binding capacity( < 480ng/dl)
      d. decreased serum iron( less than 15ng/dl)
Reference: chapter 103 Harrison 18th edition
Red cell distribution width is a measure of dimorphic cell population in patients in
early stages of IRON deficiency anemia as only a part of total cell population would be
microcytic hypochromic and the rest of the cells normal. Thus it is a good screening
test for evaluation of patients of iron deficiency Anemia.
In Iron deficiency obviously iron and ferritin would be lesser and this would send the
Total iron binding systems to work harder to get iron into the system. Thus TIBC is
always increased in iron deficiency Anemia. Remember TIBC value is always inverse of
serum ferritin value.
The following table is a must know for initial MCQ of haematology

5. most common genetic defect in M.O.D.Y
      a. Glucokinase
      b. Hepatocyte nuclear factor 1 alpha
      c. Hepatocyte nuclear factor 4 alpha
      d. Insulin promoter 1
Reference : CMDT page no 1194
Maturity onset dibetes of the young (MODY)
· This subgroup is a relatively rare monogenic disorder characterized by
non – insulin dependent diabetes with autosomal dominant inheritance
and an age at onset of 25 yrs or younger.
· Patients are nonobese, and their hyperglycemia is due to impaired glucose
induced secretion of insulin. Six types of mody have been described.
Except for MODY 2 , in which a glucokinase gene is defective, all other
types involve mutations of a nuclear transcription factor that regulates
islet gene expression.
· The enzyme glucokinase is a rate limiting step in glycolysis and
determines the rate of adenosine triphosphate (ATP) production from
glucose and the insulin secretory response in the beta cell. MODY 2, due to
glucokinase mutations, is usually quite mild, associated with only slight
fasting hyperglycemia and few if any microvascular diabetic
complications. It generally responds well to hygienic measures or low
doses of oral hypoglycemic agents.
· MODY 3, due to mutations is hepatic nuclear factor 1 α is the most
common form, accounting for two birds of all MODY cases. The clinical
course is of progressive beta cell failure and need for insulin therapy.
Mutations in both alleles of glucokinase present with more severe
neonatal diabetes. Mutation in one allele of the pancreatic duodenal
homeobox 1 (PDX1) causes diabetes usually at a later age (~ 35 years)
than other forms of MODY; mutations in both alleles of PDX1 causes
pancreatic agenesis.

1.   A 35 year old man with complaints of ptosis, with difficulty in chewing and
occasionally swallowing. There is no history of diplopia and on examination
there is a symmetrical ptosis, lateral arm abduction time of 60 seconds.
Repetitive nerve stimulation test shows decremental response. EMG shows
myopathic response. Anti –Ach receptor antibodies are negative. Probable
diagnosis is:
       a. Ocular M.Gravis
       b. Generalised M.Gravis
       c. Since Anti-ach receptor antibodies are negative consider other diagnosis
       d. Chronic Progressive external opthalmoplegia
Reference: Harrison 18th edition chapter 386
http://emedicine.medscape.com/article/1215103-overview
This question looks intially as in favour of myaesthenia gravis but the
following points are against the diagnosis of Myasthenia gravis
1. Gender given as MALE at 35 years. While MG is seen in men in 50-60 years
of age.
2. Symetrical Ptosis without Diplopia. In MG we have asymetrical ptosis.
3. No diurnal variation in severity of weakness mentioned
4. For ocular M.G. symptoms must persist for 3 years
5. Anti- ach receptor antibodies are absent in 50% cases of ocular
myaesthenia gravis but they would be absent in CPEO as well as.
6. In CPEO- Ciliary and iris muscles are not involved and hence diplopia
is absent.
I have also compiled harrison and Emedicine data on these two close
answers in a tabular fashion

2.   18 yr old boy is asymptomatic. On ECG he has a short PR interval with delta

waves. Which of the following is not routinely required for these patients?

      a. Holter monitoring

      b. Treadmill test

      c. Reassurance

     d. Beta blockers

Answer is B : Treadmill test

Reference : Chapter 233 harrison 18th edition

o The clinical diagnosis of the patient is WOLF Parkinson SYNDROME.

These patients have a bypass tract that allows conduction of impulses

from atria to ventricles without having to be subjected to the decremental

property of AV node.

o Generally, no activity restrictions are recommended in patients with

ECG findings of pre-excitation in the absence of tachycardia. They

should be restricted from high-risk professions (eg, airline pilot) and

may be restricted from competitive sports.

o Patients presenting with tachycardias and accessory pathways

should avoid participating in competitive sports, because

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catecholamines can decrease the refractoriness of the bypass tract and

facilitate tachyarrhythmias. Patients with hypertrophic cardiomyopathy,

or the Ebstein anomaly should also abstain from competitive sports.

Walking on Treadmill can precipitate due to sympathetic stimulation

an arryhtmia and would not be recommended for patient of W.P.W.

o The Holter monitor records electrical signals from the heart via a series of

electrodes attached to the chest. Electrodes are placed over bones to

minimize artifacts from muscular activity. The number and position of

electrodes varies by model, but most Holter monitors employ between

three and eight. The device is responsible for keeping a log of the heart's

electrical activity throughout the recording period.More modern units

record onto digital flash memory devices. The data are uploaded into a

computer which then automatically analyzes the input, counting ECG

complexes, calculating summary statistics such as average heart rate,

minimum and maximum heart rate, and finding candidate areas in the

recording worthy of further study by the technician. Thus Holter

monitoring in these patients can identify if patient is having a life

threatening event which on recording will help us know that these

patients would or would not require a RADIOFREQUENCY ABLATION

to get rid of the accessory pathway.

3.   8 yr old boy is having muscle weakness. On examination he has large muscles in

legs and his CPK levels are reducing. He also has a sub normal IQ. Probable

diagnosis is :

       a. Hereditary sensory and motor neuropathy

       b. Myelin deficiency

       c. Dystrophin deficiency

      d. Congenital myopathy

Answer is C : dystrophin deficiency

Reference: chapter 387 harrison 18th edition

o Duchenne's dystrophy is present at birth, but the disorder usually

becomes apparent between ages 3 and 5 years. The boys fall frequently

and have difficulty keeping up when playing. Running, jumping, and

hopping are invariably abnormal.

o GOWER sign is seen with PSEUDOHYPERTROPHY of the calf muscles.

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o Contractures of the heel cords and iliotibial bands become apparent by

age 6 years, when toe walking is associated with a lordotic posture

o By age 12 years, most patients are wheelchair dependent. Contractures

become fixed, and a progressive scoliosis often develops that may be

associated with pain. The chest deformity with scoliosis impairs

pulmonary function, which is already diminished by muscle weakness. By

age 16–18 years, patients are predisposed to serious, sometimes fatal

pulmonary infections. Other causes of death include aspiration of food and

acute gastric dilation.

o A cardiac cause of death is uncommon despite the presence of a

cardiomyopathy in almost all patients

o Intellectual impairment in Duchenne's dystrophy is common; the

average intelligence quotient (IQ) is 1 SD below the mean. Impairment

of intellectual function appears to be nonprogressive and affects verbal

ability more than performance.

o Serum CK levels are invariably elevated to between 20 and 100 times

normal. The levels are abnormal at birth but decline late in the

disease because of inactivity and loss of muscle mass. EMG

demonstrates features typical of myopathy. The muscle biopsy shows

muscle fibers of varying size as well as small groups of necrotic and

regenerating fibers. Connective tissue and fat replace lost muscle fibers. A

definitive diagnosis of Duchenne's dystrophy can be established on the

basis of dystrophin deficiency in a biopsy of muscle tissue or mutation

analysis on peripheral blood leukocytes, as discussed below.

o A diagnosis of Duchenne's dystrophy can also be made by Western blot

analysis of muscle biopsy specimens, revealing abnormalities on the

quantity and molecular weight of dystrophin protein. In addition,

immunocytochemical staining of muscle with dystrophin antibodies can

be used to demonstrate absence or deficiency of dystrophin localizing to

the sarcolemmal membrane. Carriers of the disease may demonstrate a

mosaic pattern, but dystrophin analysis of muscle biopsy specimens for

carrier detection is not reliable.

4.   3 yr old child is having barking cough with drooling of saliva. His RR is 36/min
and Xray neck lateral view shows “thumb sign”. The probable diagnosis is:
      a. Epiglottis
      b. Croup
      c. Foreign body
     d. Abductor vocal cord palsy.
Answer is A : epiglottitis
Reference: chapter 382.1 nelson textbook
EPIGLOTTITIS: A otherwise healthy child suddenly develops a sore throat
and fever. Within a matter of hours, the patient appears toxic, swallowing is
difficult, and breathing is labored. Drooling is usually present and the neck
is hyperextended in an attempt to maintain the airway. The child may assume
the tripod position, sitting upright and leaning forward with the chin up and
mouth open while bracing on the arms. A brief period of air hunger with
restlessness may be followed by rapidly increasing cyanosis and coma.
Stridor is a late finding and suggests near-complete airway obstruction.
Complete obstruction of the airway and death can ensue unless adequate
treatment is provided. The barking cough typical of croup is rare. Usually, no
other family members are ill with acute respiratory symptoms.The diagnosis
requires visualization of a large, “cherry red” swollen epiglottis by
laryngoscopy. Occasionally, the other supraglottic structures, especially the
aryepiglottic folds, are more involved than the epiglottis itself.. Anxietyprovoking
interventions such as phlebotomy, intravenous line placement,
placing the child supine, or direct inspection of the oral cavity should be
avoided until the airway is secure. If epiglottitis is thought to be possible but
not certain in a patient with acute upper airway obstruction, the patient can
undergo lateral radiographs of the upper airway first. Classic radiographs of
a child who has epiglottitis show the “thumb sign”.
CROUP : Croup is a clinical diagnosis and does not require a radiograph of
the neck. Radiographs of the neck may show the typical subglottic narrowing
or “steeple sign” of croup on the postero-anterior view.

5.   3 year old child is having sore throat with high grade fever. On examination he
has a inflamed phyranx and exudate on tonsils with tender lymphadenopathy.
Which of the following is a non suppurative complication of these patients?
        a. Acute rheumatic fever
        b. Acute glomerulonephritis
        c. Acute rheumatic fever and acute Glomerulonephritis both
       d. Scarlet fever
Answer is C: Acute rheumatic fever and acute Glomerulonephritis both
Reference: CMDT 2013 ,page no x
Group A β – hemolytic streptococci (Streptococcus pyogenes) are the most common
bacterial cause of pharyngitis. Transmission occurs by droplets of infected secretions.
Group A streptococci producing erythrogenic toxin may cause scarlet fever in
susceptible persons.
Clinical Findings
A. Symptoms and Sings
“Strep throat” is characterized by a sudden onset of fever, sore throat, pain
on swallowing, tender cervical adenopathy, malaise, and nausea. The
pharynx, soft palate, and tonsils are red and edematous. There may be a
purulent exudate. The centor clinical criteria for the diagnosis of
streptococcal pharyngitis are temperature > 38oC, tender anterior cervical
adenopathy, lack of a cough, and pharyngotosillar exudates.
The rash of scarlet fever is diffusely erythematous, resembling a sunburn, with
superimposed fine red papules, and is most intense in the groin and axillas. It
blanches on pressure, may become petechial, and fades in 2-5 days, leaving a
fine desquamation. The face is flushed, with circumoral pallor, and the tongue is
coated with enlarged red papillae (strawberry tongue).
B. Laboratory Findings
Leukocytosis with neutrophil predominance is common. Throat culture onto a
single blood agar plate has sensitivity of 80-90%. Rapid diagnostic tests based
on detection of streptococcal antigen are slightly less sensitive than culture.
Clinical criteria such as the centor criteria, are useful for identifying patients in
whom a rapid antigen test or throat culture is indicated. Patients who meet two
or more of these criteria merit further testing. When three of the four are
present, laboratory sensitivity of rapid antigen testing exceeds 90%. When only
one criterion is present, streptococcal pharyngitis is unlikely. In high prevalence
settings or if clinical suspicion for streptococcal pharyngitis or if clinical
suspicion for streptococcal paryngitis is high, a negative antigen test or culture
should be confirmed by a follow up culture.
Complications
Suppurative complications include sinusitis, otitis media, mastoiditis, peritonsillar
abscess and suppuration of cervical lymph nodes.
Nonsuppurative complications are rheumatic fever and glomerulonephritis.
Rheumatic fever may follow recurrent epidoses of pharyngitis beginning 1-4
weeks after the onset of symptoms. Glomerulonephritis follows a single
infections with a nephriotogenic strain of streptococcus group A (eg, types 4, 12,
2, 49 and 60), more commonly on the skin than in the throat, and begins 1 – 3
weeks after the onset of the infection.

6.   28 year old lady with history of recurrent abortions and repeated episodes of
pain the calves is most likely to have deficiency of which of the following
      a. Plasmin
      b. Thrombin
      c. Protein C
     d. Factor 13
Answer is C: protein C
Reference: table 58.3 Harrison 18th Edition and NELSON chapter 478
Factor 13 deficiency and thrombin deficiency causes bleeding manifestations.
Congenital plasminogen deficiency has been mentioned in texts but not
congenital plasmin deficiency. Hence by exclusion the diagnosis is protein C
deficiency.
Thrombohilia should be suspected in patients has a history of recurrent
venous thromboembolism, venous thrombosis in a person younger than
40 years, a familial history of venous thromboembolism, and thrombosis
in unusual sites (eg, mesenteric vein, renal vein, hepatic and cerebral
thrombosis).
Homozygous deficiency of protein C presents with purpura fulminans in the first
few hr of life. Fresh frozen plasma (FFP) is the only immediately available source
of protein C. Amelioration of symptoms usually requires 10–15 mL/kg of FFP
every 8–12 hr. Clinical trials are in progress using a plasma protein C
concentrate, which eliminates the need for large amounts of FFP. A recombinant
activated protein C concentrate (drotrecogin-α) has been approved for the
treatment of adult sepsis, but it has not been approved for treating hereditary
deficiency
Thrombophilic disorders are usually associated with venous thrombosis.
However, protein S, protein C, ATIII deficiencies, and lupus anticoagulants have
been associated with arterial thrombosis.
Patients with protein C and S deficiencies can develop warfarin-induced skin
necrosis when placed on warfarin since protein C and S are vitamin K–
dependent factors and, hence are suppressed.
Remember: Purpura fulminans in infancy could suggest protein C deficiency.
These antibodies occur in about 20% of patients with systemic lupus
erythematosus (SLE), but they are also associated with other autoimmune
diseases. Lupus anticoagulants may occur in patients taking phenothiazines,
phenytoin, phenytoin, hydralazine, quinine, amoxicillin, and oral contraceptives.
Also REMEMBER : Clinical criteria for indicating the presence of lupus
anticoagulants (Sapporo criteria for the antiphospholipid syndrome) are as
follows:
· One or more arterial, venous, or small vessel thrombosis, affecting any organ or
tissue
· Pregnancy morbidity: The risk for maternal and fetal morbidity increases after
the 10th week of pregnancy. Fetal mortality in pregnancy can include
spontaneous abortions, prematurity, and stillbirths.
· Three or more unexplained consecutive spontaneous abortions after the 10th
week of gestation

7.   A lady is pregnant and is a known case of juvenile myoclonic epilepsy and is
receiving sodium valproate. Which of the following drugs is best suited after
valproate for management of this patient
     a. phenytoin
     b. carbamazepine
     c. levetiracetam/lamotrigine
     d. Lacosamide
Answer is C: lamotrigine
Reference: Harrison 18th edition table 368-9 and 369-9
60 year old patient with renal failure. He also has bone pain with X ray limb
showing lytic lesions in the long bones. Serum electrophoresis shows M spike.
Peripheral smear shows 35 % plasma cells. Bone marrow shows presence of
immature plasma cells. Diagnosis is
      a. Plasma cell Leukemia
      b. Multiple myeloma
      c. Smoldering myeloma
      d. Monoclonal Gammopathy of unknown significance.
Answer: A: Plasma cell leukemia
Reference: http://www.medscape.com/viewarticle/731900
The question mentions Peripheral smear showing plasma cells >35% and not in
the bone marrow. Hence the diagnosis goes in favour of plasma cell leukemia.
The diagnostic criteria for Plasma Cell Leukemia include the
Presence of a circulating clonal plasma cell count of more than 2000/μl (if the
total white blood cell count is >10,000/μl) OR
The presence of more than 20% CIRCULATING plasma cells.
Since in this question one of the critieria is satisfied hence diagnosis is
Plasma cell leukemia
· PCL can be secondary PCL (s PCL) if arising from a known a diagnosis of plasma
cell myeloma or primary PCL (p PCL) if no prior history of plasma cell myeloma
can be ascertained. sPCL was felt to arise late in the course of plasma cell
myeloma and those patients have been described to have a worse prognosis
than those with p PCL. However, a recent report indicates that the median time
to transformation to s PCL from plasma cell myeloma is approximately 21
months. The primary form accounts for 60% of all cases of PCL.
· Patients with PCL may present with signs and symptoms commonly found
in patients with plasma cell myeloma, such as bone pain, anemia, renal
dysfunction, Hypercalcemia and lytic bone lesions; or clinical manifestations
normally found in patients with leukemia, including leukocytosis, anemia,
thrombocytopenia, infections and hepato-splenomegaly. In addition, these
patients may also have elevated levels of LDH and β-2-microglobulin. Patients
with PCL are also more likely to present with advanced stage disease (stage III)
and have more significant extramedullary involvement that can include the CNS
· In contrast to most patients with plasma cell myeloma, the malignant cells in
PCL frequently lack CD56, CD9, CD117 and human leukocyte antigen DR
expression. It has been proposed that weak or absent CD56 expression
could explain the propensity of these clonal plasma cells to leukemic
transformation and also account for the lower osteolytic potential and
higher rates of extra-medullary involvement seen in patients with PCL
· The use of traditional combination chemotherapy, such as vincristine,
Adriamycin, dexamethasone (VAD) or high-dose cyclophosphamide-Etoposide is
associated with response rates of up to 59% and median overall survival of 15–
20 months. More aggressive regimens such as fractionated high-dose
cyclophosphamide and dexamethasone with infusional vincristine and
Adriamycin (hyper CVAD) have been used alone or in combination with
thalidomide and have revealed encouraging results including complete response
(CR).

8.   A patient has Pc02 of 30 mmHg, P02 of 105 mmHg and pH of 7.45.
diagnosis is compensated
     a. respiratory acidosis
     b. respiratory alkalosis
     c. metabolic acidosis
     d. metabolic alkalosis
· Well if you look at values it indicates hyperventilation of the patient
due to C02 washout with increased 02 and normal pH due to the
process of compensation.
· If in same question pH>7.45 we shall call it uncompensated
respiratory alkalosis
Else follow this table:
· If direction of change of pH and pC02 is both in same direction ie
like both reduced or both increased then problem is metabolic
· If direction of change of pH and PC02 is opposite, then the primary
problem is respiratory.
· Else use a pen and mark arrows for increase or decrease in the table
below and u shall see a pattern emerge which will solve all MCQ in
books.

9.   Bilateral Balbinski sign is seen in :
       a. brain- stem stroke
       b. thalamus and basal ganglia damage
       c. cerebellum damage
       d. mid pontine lesions
Reference: Harrison 18th edition figure 370-10 point no M

10.   A 60 year old patient with 60 Packet per year history of smoking is having
 a cancer which shows small cells with high mitotic index. Which of the following
is correct for this patient
      a. aggressive pyscho-social behaviour
      b. repeated blood transfusions
      c. thin limbs with centripetal obesity
      d. increased thirst/ version 2 of this choice was gynaecomastia
Reference: Harrison chapter 100.
Answer is A due to limbic encephalitis causing aggressive behaviour due to
involvement of limbic system. The closest choice increased thirst due to SIADH, is
negated as Harrison writes in the para-neoplastic syndrome (chapter 100) that most
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patient of ectopic ACTH secretion are asymptomatic. Read on the next text for a
comprehensive logic for the question.
The clinical diagnosis of small cell cancer/oat cell cancer of lung which has many
paraneoplastic manifestations:
1. Cushing syndrome is due to ECTOPIC ACTH release by lung cancer. However
these patients due to this aggressive cancer CANNOT HAVE presentation of
centripetal obesity but weight loss and hence choice number C is ruled out.
2. SIADH due to increase secretion of ADH leading to hyponatremia , Most
patients with ectopic vasopressin secretion are asymptomatic and are
identified because of the presence of hyponatremia on routine chemistry
testing. Symptoms may include weakness, lethargy, nausea, confusion,
depressed mental status, and seizures. The severity of symptoms reflects
the rapidity of onset as well as the extent of hyponatremia. Hyponatremia
usually develops slowly but may be exacerbated by the administration of
IV fluids or the institution of new medications.
3. Limbic encephalitis (anti –HU antibodies) due to SCLC can present with
agitation and psycho-social behaviour though the following 4 criteria must be
satisfied.
· Subacute onset (<12 weeks) of seizures, short-term memory loss, confusion, and
psychiatric symptoms
· Neuropathologic or radiologic evidence (MRI, SPECT, PET) of involvement of the
limbic system
· Exclusion of other possible aetiologies of limbic dysfunction
· Demonstration of a cancer within 5 years of the diagnosis of neurologic
symptoms, or the development of classic symptoms of limbic dysfunction in
association with a well-characterized paraneoplastic antibody (Hu, Ma2, CV2,
amphiphysin, Ri)
4. Paraneoplastic syndromes are common in patients with lung cancer, especially
those with SCLC, and may be the presenting finding or the first sign of recurrence.
Ectopic production of parathyroid hormone (PTH), or more commonly, PTHrelated
peptide, is the most common life-threatening metabolic complication of
malignancy, primarily occurring with squamous cell carcinomas of the lung.
Clinical symptoms include nausea, vomiting, abdominal pain, constipation,
polyuria, thirst, and altered mental status.
· Hyponatremia may be caused by the syndrome of inappropriate secretion
of antidiuretic hormone (SIADH) or possibly atrial natriuretic peptide
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(ANP). SIADH resolves within 1–4 weeks of initiating chemotherapy in the
vast majority of cases. During this period, serum sodium can usually be
managed and maintained above 128 meq/L via fluid restriction. Demeclocycline
can be a useful adjunctive measure when fluid restriction alone is insufficient. Of
note, patients with ectopic ANP may have worsening hyponatremia if sodium
intake is not concomitantly increased. Accordingly, if hyponatremia fails to
improve or worsens after 3–4 days of adequate fluid restriction, plasma levels of
ANP should be measured to determine the causative syndrome.
· Ectopic secretion of ACTH by SCLC and pulmonary carcinoids usually
results in additional electrolyte disturbances, especially hypokalemia,
rather than the changes in body habitus that occur in Cushing's syndrome
from a pituitary adenoma. Treatment with standard medications, such as
metyrapone and ketoconazole, is largely ineffective due to extremely high
cortisol levels. The most effective strategy for management of Cushing's
syndrome is effective treatment of the underlying SCLC. Bilateral adrenalectomy
may be considered in extreme cases.
· Skeletal–connective tissue syndromes include clubbing in 30% of cases (usually
NSCLCs) and hypertrophic primary osteoarthropathy in 1–10% of cases (usually
adenocarcinomas). Patients may develop periostitis, causing pain, tenderness,
and swelling over the affected bones and a positive bone scan. Neurologic–
myopathic syndromes are seen in only 1% of patients but are dramatic and
include the myasthenic Eaton-Lambert syndrome and retinal blindness with
SCLC, while peripheral neuropathies, subacute cerebellar degeneration, cortical
degeneration, and polymyositis are seen with all lung cancer types. Many of
these are caused by autoimmune responses such as the development of anti–
voltage-gated calcium channel antibodies in Eaton-Lambert syndrome. Patients
with this disorder present with proximal muscle weakness, usually in the lower
extremities, occasional autonomic dysfunction, and rarely with cranial nerve
symptoms or involvement of the bulbar or respiratory muscles. Depressed deep
tendon reflexes are frequently present. In contrast to patients with myasthenia
gravis, strength improves with serial effort. Some patients who respond to
chemotherapy will have resolution of the neurologic abnormalities. Thus,
chemotherapy is the initial treatment of choice. Paraneoplastic
encephalomyelitis and sensory neuropathies, cerebellar degeneration, limbic
encephalitis, and brainstem encephalitis occur in SCLC in association with a
variety of antineuronal antibodies such as anti-Hu, anti-CRMP5, and ANNA-3.
Paraneoplastic cerebellar degeneration may be associated with anti-Hu, anti-Yo,
or P/Q calcium channel autoantibodies. Coagulation, thrombotic, or other
hematologic manifestations occur in 1–8% of patients and include migratory
venous thrombophlebitis (Trousseau's syndrome), nonbacterial thrombotic
(marantic) endocarditis with arterial emboli, and disseminated intravascular
coagulation with hemorrhage, anemia, granulocytosis, and
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leukoerythroblastosis. Thrombotic disease complicating cancer is usually a poor
prognostic sign. Cutaneous manifestations such as dermatomyositis and
acanthosis nigricans are uncommon (1%), as are the renal manifestations of
nephrotic syndrome and glomerulonephritis
GYNAECOMASTIA is seen with large cell carcinoma of lung.