1. Patient in CHF. Which substance would be elevated in pulmonary veins?

AT-II,
cz RAAS is activated and AT-I is converted to AT-II in pulmonary capillaries by ACE.
2. Where is PG E1 produced that maintains the patency of Ductus arteriosus?
Produced in endothelial cells, mast cells and macrophages. Also an afferent dilator
in kidneys.
3. Patient with Fever, anorexia, dyspnea. Has Hct=56%, On Xray round lesions are
seen in b/l lungs i.e. Cannon ball. Biopsy of lesion shows round Cells with
abundant clear cytoplasm. What is the Dx?
a. Metastasis from kidneys to lungs is MCC.
b. Clue: Hct- 56% due to Increased ectopic EPO from kidney
c. Biopsy shows rounded polygonal cells with abundant clear cytoplasm
which points towards Clear cell carcinoma of kidney.
d. Travel History may point towards HCC due to Hep B or Hep C.
4. Idiopathic Nodular Glomerulosclerosis is a ds linked to longstanding cigarette
smoking and hypertension. Obesity is also listed as a contributing factor.
5. Fnxns of ADH/Vasopressin:
a. Acts on Medullary Collecting tubule to Increase absorption of urea
b. Acts on Cortical Collecting tubule to Increase water absorption.
6. Citrate Binds with calcium in renal tubules and prevents its precipitation with
oxalate or phosphate
a. Citrate also increases urinary pH and decreases urate precipitation.
b. Citrate acts as Anticoagulant by binding to Calcium and making it
unavailable for coagulation pathway.
7. Calcium Phosphate and Struvite Stone require ALKALINE pH for precipitation.
Acidic environment inhibits their Crystal form.
8. Neuronal ischemia is a well-established characteristic of diabetic neuropathy.
9. Mech of nerve damage in DM: NADPH produced by glucose metabolism is used
to produce glutathione and Nitric oxide.
a. In DM, glucose is converted to Sorbitol by aldolase reductase and it uses
NADPH.
b. This produces NADPH deficiency and High free oxygen radicals causing
nerve damage or retinal cell damage.
c. Sorbitol is osmotically active, increase fluid within the cells and osmotic
damage occurs leading to fibrosis (e.g. opacity in eye lens)
10.
Non-enzymatic glycosylation: glucose attaches to amino acids in blood
vessel wall
later cross linking occurs with collagen
facilitates deposition of
LDL
atherosclerosis
11.
Sorbitol
Fructose by Sorbitol dehydrogenase which replenishes
NADPH
a. Sorbitol dehydrogenase is present in seminal vesicles (use of fructose by
sperm), eye lens.
b. In the eye lens, Sorbitol DH prevents the Sorbitol damage under
euglycemic conditions only cuz Sorbitol DH has low Vmax. In long standing
hyperglycemia, Sorbitol accumulates.

c. Sorbitol dehydrogenase is not present in renal papilla, Schwann cells and

retina but aldose reductase is.
12.
The concentration of PAH, Inulin, Creatinine and UREA increase as fluid
runs along the PCT, where as the conc. Of BICARBONATEs, amino acids and
glucose decrease.
13.
Metabolic alkalosis
a. Loss of Hcl in vomiting: Cl- is deficient in urine due to loss. Kidneys
preserve HCO3- to maintain anion gap thus worsening alkalosis.
b. Thiazide or loop diuretics: Decrease Na+ delivery to distal tubule, Distal
tubule tries to reabsorb Na+ in exchange for K+ , Hypokalemia occurs
i. H+ moves intracellularly in response to hypokalemia
ii. a-intercalated cells reabsorb K+ in exchange with H+ and hence both
these steps cause acidosis.
c. Aldosterone: causes K+ secretion and hypokalemeia, same mechanism as
loop or thiazide diuretics.
14.
Patient with DKA will have the following
a. Metabolic acidosis: pH<7.4
b. Serum bicarb is low cuz its used in buffering
c. PCO2 is low by respi compensation
d. Urine and breath smells fruity.
15.
Filtered load = excretory load, this is for inulin like substances
a. For other substances, to calculate excretory load, we must subtract reabsorption rate from the filtered load.
16.
Patient with MS has frequent urination, inability to hold the urine, leaking
of urine on multiple occasions. Has no leakage with coughing or sneezing.
a. This is a case of urge incontinence, not stress or overflow (cuz pt. has
increased freq.)
b. MS lesion in Pons may cause loss of contraction of EUS and loss of
inhibition of Detrussor contractility causing Detrusor overactivity.
c. Multiple sclerosis: relapsing-remitting disease is MC
d. Lesion and symptoms are separated over time and place.
e. Optic neuritis is MC symptom with presence of blurry vision, pain with
eye movements and MARCUS GUNN PUPIL that gets better and relapses
again.
f. Heat exposure (uhtoff phenomenon): leads to fatigue cuz heat decreases
the neuronal transmission esp in demyelinated neurons.
g. Lhermitte sign.
h. INO: very frequently A/W MS causes gaze palsy.
i. Cerebbealr signs: Cerebellar ataxia, scanning speech, intention tremor
and nystagmus (SIN: charcot classic triad)
j. Sclerotic plaques are formed mostly seen in periventricluar area,
juxtacortical, infratentorial, and spinal cord
i. Plaques contain demyelinated axons, lipid laden macrophages
(contain digested myelin), astrocytosis, lymphocyte infiltrates
k. Demyelination leads to loss of saltatory conduuction.

17.
In a myelinated neuron: myelin sheath prevents the dissipation of charge
along the length of axon so the potential can travel a larger distance. This
means myelin LENGTH CONSTANT of neuron.
a. Demyelination the length constant
AP cant travel for long cuz the
charge dissipates at shorter distance.
18.
Time taken to achieve 63% of memb potential is TIME constant.
a. Myelin decreases the time constant thus increasing the speed of
conduction.
b. Demyelination time constant and slows the speed of conduction
19.
ARPKD: presents with bilateral flank mass at birth, cysts are formed by
dilated distal and collecting tubule. Easily diagnosed with US at birth
a. ADPKD: presents at age of 40-60 years, microscopic cysts are present at
birth, not seen with US.
20.
HUS: Shiga like toxin producing E. Coli (STEC) infection or shigella or
campylobacter infection cause BLOODY DIARRHEA.
a. Following this, the toxin damages the glomerular capillary endothelium,
platelets bind to it and get activated and form microthrombi
(thrombocytopenia).
b. RBC trying to pass thru narrowed capillaries get damaged, form
schistocytes.(microangiopathic haemolytic anemia)
c. Formation of microthrombi in renal vessels causes ischemia and damage to
kidneys.
21.
Cystine stone: Autosomal recessive condition of defective dibasic amino
acid transporter that transports cystine.
a. Increased cystine in urine, supersaturation and stone formation.
b. Cystine levels in urine tested with Sodium-cyanide Nitroprusside test.
22.
Tubular proteinuria: When PCT is unable to absorb normally filtered e.g. in
TIN
a. b2 microglobulin, immunoglobulin light chains, retinol binding protein
23.
Overflow proteinuria: excess production of protein e.g. multiple myeloma
24.
RPF: RBF x (1-Hct)
25.
Kimmelsteil Wilson nodules are PAS+ and eosinophilic.
26.
Ethylene glycol poisoning: It is converted to Glycolic acid via Alc
Dehydrogenase and Aldehyde dehydrogenase and causes Acidosis.
a. Glycolic acid is further converted to glyoxylic acid and oxalates. Oxalates
binds to Ca++ causing hypocalcemia. It precipitates in the tubular lumen
being the major cause of ARF also damaging the tubular cells.
b. Renal Biopsy reveals BALLOONING AND VACUOLAR DEGENERATION OF
PCT.
27.
Muddy brown casts are seen in Ischemic ATN.
28.
70% stones in adults are calcium stones, 30% are the rest
29.
Low calcium diet doesnt prevent calcium stones, HOW?
a. Low calcium leads to increased calcium absorption from gut and high Ca++
release from the bone, thereby calciuria.
b. Low protein diet is advised in pts with calcium and uric acid stone, WHY?

i. High protein leads to increased acid production, leading to increased

Ca++ release from bone.
ii. Also high dietary Na+ leads to increased Ca++ release from bone.
iii. Pyridoxine is advised in oxalate stone, cuz it decreases hyperoxaluria.
30.
Leukocyte rolling: L- selectin and P&E- selectins.
a. Leukocyte firm adhesion: B2 integrins and ICAM&VCAM
b. Leukocyte transmigration: B2 integrins and PECAM
c. LAD type 1: No B2 integrins or CD18
i. Recurrent bacterial infection, no PUS formation, Delayed separation of
umbilical cord.
31.
Only C3 deficiency, no C3b, no opsonisation: susceptibility to Gram +ve
infection
32.
MAC formation defect: susceptibility to Gram ve infection, especially,
Niesseria gonorrhoea and Niesseria meningitides.
33.
IgG and IgM activate classical complement pathway.
34.
Myasthenia and Good Pasteur syndrome are Type II HSR
a. Hypersensitivity pneumonitis: Actinomyces antigens plus IgG are present
causing interstitial alveolitis and bronchiolitis: Type III HSR
b. Contact dermatitis: antigen from skin taken up by langerhans cells and
presented to lymph node and Th1 release inflammatory cytokines: type IV
HSR
c. PSGN: Type III HSR; Atopic Dermatits: Type I HSR
35.
Candida infection: T- cells and Neutrophils
a. T-cells prevent the occurrence of this infection
b. Neutrophils prevent against blood spread. So if a patient has neutropenia,
he can have disseminated candidemia.
36.
Complement: C1,C2, C4 deficiency predisposes to SLE like ds with immune
complexes
a. C5,6,7,8,9 def. predisposes to Niesseria infections.
37.
For granuloma formation in TB, we require IFN-gamma, IL-12, and TNF-a
38.
LT-C4,D4,E4 are SRS of anaphylaxis, cause vasoconstriction,
bronchoconstriction and inc vessel permeability.
39.
PAF: same as above with Inc leukocyte adhesion.
40.
One and only fnxn of IL-2, released from Th1 is clonal expansion of
a. Th1(autocrine fnxn)
b. CTL
c. NK cells
i. They are also enhanced by IL-12, IFN-a, IFN-b
d. B cells
41.
INF-g increases expression of MHC II > MHCI
a. TNF-a & TNF-b increases expression of MHC I > MHC II
42.
NK cells and CTL cells kill by similar mech
a. Perforins and granzymes
b. Fas ligand and fas receptor on target cell
c. TNF a production

43.

CMV and Cell mediated immunity

a. CMV decreases the expression of MHC I so its not recognised by CTL
b. Plus it produces a decoy molecule that looks like MHC I to fool the NK cells
c. But our great body has ADCC, IgG binds to the decoy molecule and presents
it Fc tail to Fc receptor containing NK cells or CTL.
44.
Where does IFN-a and IFN-b come from? They are released from virally
infected cells to warn the neighbouring cells of virus infection.
a. IFN-a and b goto neighbours, produce RNAseL and Protien kinase R(PKR)
i. PKR phosphorylates eIF and inhibits translation when cell becomes
infected with viral dsRNA
ii. RNAseL degrades BOTH viral and cellular mRNA.
b. IFN-a and IFN-b also enhances activity of NK cells
45.
Influenza viral vaccine contains haemagglutinin. The antibodies are
produced against these antigens, which on real exposure neutralises the real
antigens and prevents the entry of virus into cells.
a. Oseltamivir acts as viral neuraminidase and prevents the release of virus
from the cell.
46.
CD-16 present on REED-Sternberg cell in Hodgkins lymphoma.
47.
X-linked hypogammaglobulinemia or Bruton hypo.
a. No tyrosine kinase activity
b. Increased Pre-B cells(CD19,CD20) in bone marrow
c. No Mature B cells in peripheral blood.
48.
Vaccines produced from capsulated bacteria like Haem. Influenza, Strep.
Pneumonia and N. Meningitides are polysaccharide vaccines
a. These are usually covalently bound to protein carriers like diphtheria toxoid
or tetanus toxoid
b. Advantage: Vaccine gets a T-cell response.
49.
When parasite invade the mucosa, IgG or IgE bind to antigens and are
presented to Eosinophils which release major basic protein that damage the
parasites. It is ADCC
a. Eosinophils also phagocytose parasitic antigens and express them with
MHC-II and stimulate T-helper cells.
50.
On EMB media, E.coli ferment lactose & give a green metallic sheen.
51.
Anti-inflammatory cytokines: IL-10 AND TGF-b.
a. IL-10 inhibits Th1(decreasing IL-2 and IFN-gamma)
b. TGF-b inhibits Th2, CTLs, B-cells
52.
Wiscott- Aldrich syndrome: ECZEMA, THROMBOCYTOPENIA AND
RECURRENT INFECTIONS
a. X-linked recessive
53.
Write about lymph node
54.
Immature thymocytes cortex of thymus express both MHC I and MHC II.
55.
GVHD occurs in Bone marrow, liver transplant, blood transfusion and
thymus transplantation
a. Host Tcells are sensitised against Host.
b. Affects liver with jaundice, inc AST/ALT

c.
d.
e.
f.

Affects GIT with mucosal ulceration, severe diarrhea, pain, N/V

Affects skin with maculopapular rash
Affects vagina, severe pain and scarring, painful sex
Acute in <100days, Chronic > 100 days
56.
Maternal immunisation with Tetanus toxoid can prevent neonatal tetanus.
57.
Silicosis increases susceptibility to M.TB. HOW?
a. Impairs the fnxn of MACROPHAGES
58.
HIV gp120 binds to CD4 and CCR5. If both CCR5 genes are deleted, HIV
virus is unable to enter host cell
59.
No. Of melanocytes black skinned and fair skinned individuals is equal.
a. Its the amount of melanin that matters. Melanocytes produce excess
melanosomes on exposure to UV light and pass em onto keratinocytes.
60.
N. gonorrhoea can undergo antigenic variation so infection doesnt provide
a long lasting immunity.
61.
Candida and other fungal infections require cell mediated immunity.
62.
Kallman syndrome: normally GnRH neurons originate in the olfactory
placode; pass through the cribriform plate and then into olfactory bulb, where the
sense of smell is generated. From there they migrate into hypothalamus.
a. If there is a KAL-1 or FGFR-1 gene mutation, Failure of migration of such
neurons occurs and leads to hypogonadotropic hypogonadism (HH) i.e.
low or absent GnRH and absent olfactory bulb (seen on MRI)
b. Occurs BOTH in FEMALES AND MALES
c. Presentation is delayed puberty i.e. no sec sex characters and ANOSMIA
d. Other features: Testicle size is <3 ml, cryptorchidism, cleft palate,
micropenis
63.
Characetrisitics of trisomy 18 is clenched hands with index finger
overriding the middle finger and little finger overriding the fourth finger.
64.
Trisomy 21(DOWN): Causes of mutation
a. Trisomy 21 in 95 % cases
b. Robertsonian translocation in 2-3% cases
c. Mosaicism in rest of cases.
d. Flat face and excessive redundant skin at the nape of neck (posterior neck)
with cardiac defect (endocardial cushioon defect MC) and duodenal atresia,
hirschsprung ds and Tracheo Oesophageal Fistula
e. 500 times risk of AML
f. 20 times risk of ACUTE LYMPHOBLASTIC LEUKEMIA
65.
Turner syndrome: COA plus bicuspid aortic valve ( high freq early systolic
murmur). Plus HORSESHOE KIDNEY
a. HIGH ARCHED PALATE
b. New born turners have normal ovaries which are replaced by Conn Tissue by
age 2.
c. These patients have high LH And FSH but low oestrogen and progesterone
due to streak ovaries
d. XO can get pregnant with oocyte donation and in-vitro fertilisation. Plus they
require administration of estrogen and progesterone.

e. Short sature is due to SHOX gene absence. Normally thre is one SHOX gene
on each X chr which are always active and regualte long bone growth.
66.
Vaginal adenosis: it is replacement of normal squamous vaginal epi with
glandular columnar epi. Precursor for VAGINAL adenoCa
a. It is seen in new borns exposed to DES during pregnancy
b. DES inhibits normal differentiation of Paramesonephric duct structures like
uterus, FT, upper 1/3rd vagina.
67.
Env protein product is glycosylated to form gp160, which is cleaved in ER
to form gp120 and gp41. gp120 binds to CD4 receptors.
68.
MRKH syndrome (Mayer-Rokitansky-kuster-hauser syndrome): mullerian
duct aplasia in which upper vagina, uterus and fallopian tube fail to develop.
a. Patient will have normal Sec sex charac due to normal ovaries producing
Estrogen.
b. She will present with AMENORRHEA.
c. This ds may be accompanied with renal agenesis.
69.
Androgen insensitivity syndrome: XY with female phenotype.
a. Have cryptorchid testes but no uterus or ovaries.
b. Minimal pubic or axillary hair due to androgen insensitivity.
70.
Uniparental disomy: fetus getting 2 copies from one parent and no copy
from other parent.
a. E.g. Hydatifrom mole exhibits paternal disomy.
71.
Androgenetic alopecia: most imp baldness ds in both M and F.
a. Inheritance is POLYGENIC with variable penetrance: genes on chr X and
chr Y and short arm of chr 20.
b. Androgen receptor gene variation also plays an imp role. It is located on
chr X.
c. Also depends on circulating levels of Androgens
72.
Other ds with polygenic inheritance: Type II DM
a. Ischemic HD
b. Epilepsy
c. Schizophrenia
d. HTN
e. Glaucoma
73.
Learn names of most auto Rece and domin plus X rece and domin ds.
74.
Uniparental disomy can be a second cause of Prader willi syn and
Angelman syn by inheriting both maternal chr 15 or both paternal chr 15
respectively
75.
Mosaicism = McCune Albright syn
76.
Red ragged muscle fibres are only seen in MITOCHONDRIAL diseases cuz
they accumulate under the sarcolemma
a. Myoclonic epilepsy: muscles are red ragged on GOMORI trichome stain.
b. MELAS
c. LHON
77.
Mutation in TATA box (-25sequence) results in poor binding of RNA
polymerase II to promoter region decreasing the synthesis of mRNA.

78.
Xeroderma pigmentosum: excessive skin freckling on exposure to sunlight,
erythema, scaling, hyperpigmentation and lentigo formation.
a. AUTOSOMAL RECESSIVE; risk of SCC, BCC and malignant melanoma.
b. This condition is due to THYMINE DIMER formation and absence of
excision endonuclease (excision base repair)
c. Other examples are FANCONI and BLOOM syndrome
79.
Aromatase def in newborn: AUTOSOMAL recessive ds.
a. Results in oestrogens and testosterone: Newborn with ambiguous
genitalia and clitoromegaly but normal uterus.
b. At puberty, amenorrhea, loss of sec sex characters and tall stature
(estrogen is req for epiphyseal fusion).
c. Maternal virilisation occurs in pregnancy due to androgens coming thru
placenta.
d. Osteoporosis when the patient grows up
80.
Maturation of hnRNA (pre-mRNA) is a 4-step process
a. Addition of guanosine cap at 5end
b. 7-methylation of guanosine cap
c. Poly-adenylation: it is done at 3 end. A consensus sequence AAUAAA gives
the sequence of polyadenylation.
d. Splicing of introns by snRNP.
81.
How base excision repair works in case of deamination
a. In case cytosine deamination occurs, glycosylase recognises the faulty
nitrogen base and removes it by cleaving the sugar-base bond leaving an AP
or Apurinic site. So e.g. glycosylase takes away uracil
b. Endonuclease then cleave the 5 end side of AP site and LYASE enzyme
pulls out the APsite
c. DNA polymerase then fills in the base with the appropriate base and DNA
ligase reseals it.
82.
Early onset Alzheimers disease <60years. Seen in DOWN syn. Mutations
involved are
a. Amyloid precursor protein APP gene on chr 21: increased risk in DOWN
syn. APP is normal transmembrane protein
Amyloid Beta
b. Presilin 1 gene: on chr 14
c. Presilin 2 gene: on chr 1
d. All these mutations result in synthesis of -amyloid
e. -amyloid stains posotiev with Congo red stain and has APPLE-GREEN
birefringence with polarisation
83.
Late-onset Alzheimers ds >60years
a. a/w 4 allele of apolipoprotein E
b. apo 4 and apo 2 (protective in nature)
c. Leads to formation of senile plaques.
84.
In Alz Ds, lesion also occurs in neocortex and subcortical nuclei esp. BASAL
NUCLEI of MEYNERT.
a. Basal nuclei of meynert: decreased acetyltransferase activity
Ach
production

b. It participates in formation of new memories.

c. Hippocampus and temporal lobe markedly atrophic in Alz D
85.
Alzheimers ds: include accumulation of neurofibrillary tangles
intracellularly and amyloid extracellularly.
a. Neurofibrillary tangles composed of hyperphosphorylated TAU proteins,
primary component of intracellular tubules.
86.
HOCM: AUTOSOMAL dominant, Mutation on -myosin heavy chain
87.
HOCM cases 90% deaths in FRIEDRICKS ataxia
a. Characterised by kyphoscoliosis and foot abnormalities (highly arched
foot).
88.
Fragile X syndrome: X-linked Dominant ds
a. Mutation in FMR1 gene, characterised by CGG repeats. Follows
phenomenon of anticipation
b. Normal 5-55 repeats, premutation 55-200 repeats, and mutation has >200
CGG repeats.
c. As the no. of repeats increase, it causes the HYPERMETHYLATION of the
gene thus inactivating it.
d. When lymphocytes of patients are cultured in thymidine and folate depleted
culture, FMR1 gene region looks thin constricted (fragile) so called
fragile X syndrome
89.
Chromosomal instability disorders: ds in which chromosomal breaks are
seen
a. Mostly seen in Defective DNA repair mech
b. E.g. ATAXIA telangiectasia, BLOOM and FANCONI syn, Xeroderma
pigmentosum, and HNPCC
90.
DNA binding proteins (binding to DNA probes)
a. Transcription factors, steroid, thyroid protein, vitamin D receptors, retinoic
acid receptors, DNA transcription and replication proteins
b. E.g. N-myc and C-myc
c. C-jun and C-fos
91.
Bcl-2 gene: translocation from chr 18 to chr 14 causes FOLLICULAR
LYMPHOMA
a. Myc gne: translocation from chr 8 chr 14 results in Burkitts lymphoma
b. Erb2, Her2 and neu genes: BREAST Ca
c. Bcr-abl: Philadelphia chr, CML
d. P53: Li-Fraumeni Syn
92.
Hemophilia A and B are X-linked Recessive Conditions
a. G6PD- X-linked inheritance
93.
Achondroplasia: AUTOSOMAL Dominant
a. FGFR3 gene is defective
b. Short arms and legs with tibial bowing
c. Normal size head, normal GH and IGF-1
d. If 2 mutant alleles are present, itll result in DEATH shortly after birth.
94.
Osteopetrosis: its severe when AR, and Less severe when AD.
95.
Edward syn: Edward is boys name, HE is felling low.

96.
For down and turner: arrange all markers alphabeticallyand remember this:
LOW LOW HIGH HIGH
97.
Remember this table

98.
99.
a.
b.
c.
d.
e.
100.
a.

AFP Is raised in Neural tube defects, Omphalocele

Huntington ds: Triad of Dementia: memory and cognitive decline
Chorea: uncontrolled swinging movements of extremities
Behavioural abnormal: AGGRESSIVENESS, apathy and depression
Atrophy of caudate nucleus + moderate atrophy of putamen
GABA, Ach and Substance P in striatum.
NMDA (N-methyl-D-aspartate) binds glutamate and causes neuronal
toxicity
AML: retinoic acid receptor (RAR) gene is translocated from chr 17
chr 15
It fuses with PML gene and produces a abnormal PML/RAR@ receptor
Defective EPIDERMAL GROWTH FACTOR RECEPTORS are associated

101.
with
a. Non small cell lung ca (erbB1)
b. Breast ca (erbB2 aka HER2/neu)
c. Some ovarian ca
102.
Defective PDGF in CML
103.
When a ribosome comes across a STOP codon, No tRNA (charged or
uncharged) will interact with it instead RELEASING FACTOR 1 will bind to
ribosomes.
104.
Males born with XXY are phenotypically normal at birth
105.
Homocystineuria: treat by restricting methionine and supplementing
cysteine
a. Vascular thromboses
b. Marfanoid features and Ectopis lentis
c. Lens is displaced downward and inward where as in MARFAN syn lens is
displaced upward and outward.
d. Osteoporosis
106.
Fetus produces GOWER Hb: 2 epsilon + 2 zeta chains; yolk sac
a. Fetal Hb: 2 alpha + 2 gamma; LIVER. Fetal Hb has low affinity for 2,3- BPG
cuz it serine residues in place of LYSINE (in Hb A) which decreased the
positive charge and decreased binding with negative 2,3-BPG
b. FAMILIAL erythrocytosis: methionine replaces lysine on 82 position of beta
chain decreasing the binding with 2,3 BPG (similar to HbF)
c. Hb A: 2alpha + 2 beta
d. Hb A2: 2 alpha + 2 delta (normally produced in small quantities in adults)\

107.
Cheese reaction: excess sympathetic activity due to ingestion of TYRAMINE
containing food (old cheese, meats, draft beer)
a. It is degraded by MAO in git causing HYPERTENSIVE emergency.
b. MAO inhibitors e.g. phenelzine prevents degradation of tyramine.
108.
Benign fructosuria and hereditary fructose intolerance are due to
Fructokinase and Aldolase B deficiency resp.
a. Fructokinase def is benigh cuz fructose is converted to fructose-6phosphate by HEXOKINASE which can be used in glycolysis or converted to
G-1-P or G-6-P to be used in Gycogenesis or HMP resp.
109.
Vit B5 or pantothenic acid: its active form is CoA and is necessary for
conversion of pyruvate top Acetyl CoA
110.
Lead poisoning inhibits ALA-dehydratase and Ferrochelatase
a. There is accumulation of ALA and Protoporphyrin IX
b. No heme synthesis; Microcytic hypochromic anemia
111.
Acute intermittent porphyria: def of HMB synthase (hydroxymethylbilane)
or Uroporphyrinogen I synthase.
a. Acute abdo pain with anxiety, paranoia
b. NO PHOTOSENSITIVITY. Urine is port wine color
112.
mTOR pathway is highly active in CANCER cells
a. Growth factor (e.g. epidermal growth factor) binds on cell receptors this
receptor has tyrosine kinase which will autophosphorylate its tyrosine
residues
activates PI3 kinase which converts PIP2 to PIP3
activates
protein kinase B or Akt
activates mTOR (mammalian target of
rapamycin)
b. mTOR will translocate to nucleus and induce genes a/w cell survival,
angiogenesis and anti-apoptosis
c. mTOR activation is inhibited by PTEN (phosphatase and tension homolog);
a tumor suppressor protein.
113.
Glycogenolysis maintains blood glucose for about 12-18 hrs and later
gluconeogenesis.
114.
Insulin receptor: transmembrane protein with tyrosine kinase activity
phosphorylation of IRS-1 (insulin receptor substrate)
activates protein
phosphatase-1
dephosphorylation of PFK-2 and glycogen synthase thereby
activating them.
a. Activates PI3 kinase and GLUT-4 translocation to membrane
115.
Leucine and lysine are only ketogenic aa
a. In patient with PDH deficiency; carbohydrate substrate will lead to lactic
acidosis and other symptoms
b. So ketogenic diet is advised
c. Serine and alanine both will be converted to pyruvate and hence lactate in
this case
d. Asparagine: broken down into aspartate by asparaginase; converted to OAA
by @-ketoglutarate. Since krebs cycle isnt working (no acetyl CoA); no fun of
getting OAA from asparagine.
116.
OAA + Glutamate
Aspartate + a-ketoglutarate

a. Aspartate + Glutamine
Asparagine by asparagine synthase.
117.
Homeobox genes are Transcriptional regulators; 180 nucleotides
a. Homeobox was initially described in drosophila; mutations in these genes
causes limbs and appendages to develop in incorrect locations
Cocaine causes adrenergic activation causing hyperglycemia, HTN,
118.
tachycardia, chest pain, apprehension and diarrhea
a. Cocaine inhibits NE uptake from synaptic cleft
b. Pupils are dilated with cocaine toxicity.
119.
Diabetics may develop hypoglycaemia in a vignette; assume over dose of
insulin but their NADH to NAD+ ratio would be low
120.
Gallstones formation
a. Infection in biliary tree with ascaris lumbricoides, chlonorchis
(opisthorchis) sinensis or E.coli is imp risk factor
i. They damage the hepatocytes, release of B-glucoronidase, which
breaks down bilirubin glucoronides release unconjugated bilirubin
and cholesterol
ii. Calcium binds to form Ca-bilirubinate, Ca-palmitate, Ca-stearate +
Cholesterol which participate as stones or BROWN PIGMENT Stones.
b. Hemolysis of RBC leads to increased release of bilirubin which cant be
bound to glucoronide and is excreted as such in bile; it forms Cabilirubinate and ppt as stones: PIGMENT STONES.
c. 7@- hydroxylase converts cholesterol to bile acids amd decreases the risk of
cholesterol stone formation in GB
d. Ratio of bile acid:cholesterol = 20:1 is must to keep cholesterol in liquid
form in micelles and prevent stone formation. When ratio drops to 13:1;
cholesterol starts precipitating and forms stone
121.
B-thalassemia is a result of defective alternate splicing, which is part of
mRNA processing. This is the first defect in the synthesis of Beta chain
a. Second is precipitation of alpha chain affecting membrane stability
b. Target cells are seen in thalassemia (photo in uworld photos under PBF),
sickle cell ds or liver ds.
122.
snRNP plus proteins forms spliceosomes
a. snRNP is formed by RNA polymerase II
123.
MARFAN syn: defect in fibrilin-1 protein
a. Fibrilin-1 makes a scaffolding around the elastin in the MICROTUBULES
b. Microtubules are present in suspensory ligament of lens, blood vessels
(aorta) and periosteum.
124.
Superior region of lower lobe of lung shows opacities on xray: MCC is
aspiration pneumonia especially if person has H/o stroke with residual
hemiparesis. This is called DEPENDENT LUNG CONSOLIDATION
125.
Intercostals muscle weakness results in atelectasis in posterior lungs.
DAG+IP3 PKc
126.
Receptors using PHOSPHOINOSITOL system; PIP3
a. Alpha1 adrenergic
b. M1 and M3 cholinergic
c. Vasopressin V1

d. Histamine H1
e. Oxytocin, TRH, GnRH, AT-II
127.
Conversion of OAA to PEP uses PEPCK and GTP
a. This GTP is produced while converting succinyl CoA
succinate by
succinyl CoA synthase
128.
Citrate is powerful allosteric inhibitor of PFK-1
129.
NH3 is transported from most tissues in form of GLUTAMINE (most
abundant in blood) to kindey
a. Kidney has glutaminase to convert it into glutamate and NH3
b. From muscle, NH3 travels as ALANINE and is taken up by LIVER
130.
N-acetyl glutamate synthase is only present in the liver.
131.
Pernicious anaemia: classical vignette
a. Old woman of northern European descent, mentally slow and LEMON
colored (means icteric and anaemic) with smooth shiny tongue (atrophic
glossitis) with shuffling broad based gate
132.
Vit B2 and B6 deficiency have chelosis, glossitis and dermatitis
133.
Kozak sequence is present in mRNA before the AUG codon
a. This sequence helps in initiation of translation
b. Mutation in this sequence by replacement of Guanine by cytosine affects the
initiation of translation.
c. It is a/w THALASSEMIA intermedia
134.
Anaemia severe enough to cause Lactic acidosis will cause fall in pH and
shift the OBC to right
135.
Hartnup disease: AR, chr 5
a. Inability to absorb TRYPTOPHAN: a precursor for niacin, serotonin and
melatonin
b. Niacin forms nicotinamide which is req for absorption of other amino acids
in kidney as well as intestines.
c. Characterised by aminoaciduria of neutral amino acids. Urine conc of
proline, hydroxyproiline and arginine remains unchanged differentiating it
from FANCONI syndrome.
d. Pellagra like symptoms. ATAXIA. Starts in infancy
136.
Acute Wernicke encephalopathy: chronic alcoholic if given i/v dextrose
will cause use of all the thiamine and cause acute wernicke encephalopathy
a. It is characterised by opthalmoplegia, nystagmus, ataxia and
anterograde amnesia.
b. Chronic def causes Korsakoff psychosis characterised by anterograde and
retrograde amnesia, lack of insight, apathy and confabulation
c. Point to remember: Thiamine deficiency causes decreased activity of PDH
and alpha keto DH enzyme, and transketolase & branched chain a-ketoacid
DH
137.
Structure of collagen is Gly-X-Y-Gly-X-Y
a. Glycine is the smallest aa; providing collagen a compact structure
b. Proline is ring structure, making collagen kink at specific points and
providing rigidity

c. Photo must see in uworld photos

d. Propeptides are C and N terminal extension; DISULPHIDE bond formation
occurs in C terminal propeptides which help in formation of a helix; hence
form the procollagen.
e. Pre-pro alpha chain (with signal sequence)
pro-alpha (no signal peptide)
hydroxylation of proline and lysine at Y-position
glycosylation (with
glucose or galactose) of LYSINE only
C-teminal propeptide wali side
Disulphide bond formation to from procollagen
out of the cell
cleavage of N and C-terminal propeptides by propeptidases to form
TROPOCOLLAGEN
many tropocollagen come together to form a fibril
2+
lysyl oxidase (Cu ) forms cross linkages by oxidative deamination of
lysine and hydroxylysine
138.
Arginase converts arginine
ornithine + urea
a. Arginase Deficiency: accumulation of arginine in plasma and CSF; causes
Spastic paresis of lower limbs and choreoathetoid movements.
139.
GABA: is formed by decarboxylation of glutamate catalyzed by glutamate
decarboxylation.
140.
Ehler danlos syndrome: collagen formation defect; cross linkages are not
formed.
a. Terminal polypeptides are disulphide bind rich, these polypeptides are
cleaved by procollagen polypeptidase to allow crosslinking b/w different
collagen fibrils and make it insoluble and strong.
b. Deficiency of lysyl hydroxylase and procollagen peptidase results in
hypermobile joints and hyperelastic skin, easy bruising and
haemarthrosis
c. Procollagen peptidase deficiency results in collagen containing disulphide
rich globular domains
d. Lysyl hydroxylase def collagen contains less hydroxylysine residues.
141.
Galactose
galactose-1-P by galactokinase
a. Galactose-1-P
Glucose-1-P by galactose-1-P uridyl transferase (GALT)
b. a/w above rxn; UDP-glucose
UDP- galactose same enzyme
simultaneously
c. must see uworld photos: classic galactosemia
142.
tyrosine
melanin; TYROSINASE
143.
Glycogenolysis : 1day
a. Gluconeogenesis: until 1week
b. Ketogenesis: after 1 week of starvation
144.
Erythrocytes cant use ketones cuz they lack mitochondria
145.
Vitamin D and Vit K are absent in BREAST MILK
a. Sunlight exposure is especially necessary in dark colour newborns
146.
Vitamin C def: haemorrhage, bleeding into joint, subperiosteal hematoma,
anemia, perifollicular hemorrhage and corkscrew hair.
a. Gingival swelling, periodontal infection, hyperkeratotic papular rash,
impaired wound healing.
147.
See uworld photos: mismatch repair 1 and 2

a. Mismatch is recognised by MutS which recruits MutL and form a complex

b. MutS and MutL move along the new strand and find the nick which is
abnormal;
c. They recognise it by absence of adenine methylation which is only present on
template stand
d. They call the endonuclease-1 which cleaves the DNA 5
3 direction
e. DNA polymerase fills the gap and DNA ligase reseals it
f. MutS and MutL are formed by genes MSH2 and MLH1
148.
Acute GI haemorrhage or Diarrhoea: isotonic loss of fluid from body
a. No change in osmolarity but decrease in ECF compartment. No effect on
ICF.
149.
Adrenal insufficiency: no aldosterone
a. Hypertonic loss of NaCl, with some loss of body fluid
b. Low osmolarity of ECF, water shifts from ECF
ICF
150.
Hypertonic saline infusion: increase osmolarity of plasma and ECF
compartment; also shift of ICF
ECF
151.
Primary polydipsia: increase water intake.
a. ECF hypoosmolarity; expansion of both ECF and ICF
152.
What causes Hyperosmolarity with contraction of ECF and ICF
a. Loss of free water more than loss of ions
b. Diabetes insipidus
153.
Heme synthesis occurs both in mitochondria and cytoplasm
a. First & last 3 steps occur in the mitochondria
154.
HbsAg: only enevelop antigen; it forms 22nm tubules and spheres found in
the blood secreted by hepatocytes
a. HbcAg and HbeAg are nucleocapsid antigens
b. HAV is non enveloped
c. HCV is enveloped
155.
Pepsinogen
pepsin by HCl or preformed pepsin
a. Trypsinogen
Trypsin by enteropeptidase enzyme
156.
Secretin: secreted by duodenal cells in response to low pH
a. Stimulates the gall and pancreas to secrete HCO3b. Inhibits the release of Gastrin
157.
Hypervitaminosis A:
a. Acute toxicity: within days. Nausea, vomiting, abd pain, intracranial
pressure (papilloedema); and BLURRED VISION
b. Chronic toxicity: ingestion of >25000 IU for 6 years or >100,000 for
6months or more
i. Hair loss, blurred vision, osteoporosis and bone pain, hypercalcemia,
altered metabolism of vit D, dry skin, hepatomegaly (cuz its stored in
liver, causes toxicity), ICP
papilloedema
c. Teratogenic effects: Microcephaly, cardiac anomalies and foetal death.
158.
Vitamin C toxicity: diarrhea and abd bloating.
a. False negative stool guaic results.
b. Vitamin c and calcium oxalate stone are related/

159.

Elastin: made mostly of GLYCINE-VALINE-ALANINE

a. PROLINE and LYSINE is also present; only few of them are hydroxylated
b. Tropoelastin in EC space interacts with fibrillin-1
c. LYSINE residues are covalently bound to form DESMOSINE crosslink;
these crosslinks form the basis of elastic properties of elastin
d. ELASTIN chains DONOT form a triple helix cuz hydroxylation,
glycosylation and interchain disulfide bridges at the C terminus are absent
in elastin unline collagen.
160.
Irradiation of neoplastic tissue creates ROS from water
a. ROS leads to DNA damage forming DNA double strand breaks.
b. Cancer cells have lost the capacity to repair DNA
161.
Aging and skin wrinkle is due to decreased collagen and elastin an skin
a. Crosslinking is normal
162.
Familial dysbetalipoprotenemia or type III hyperlipoprotenemia
a. Mostly due to def of Apo E3 or Apo E4; it is required for uptake of VLDL
and Chylomicrons into liver
b. Apo E def leads to increased TG and cholesterol in blood.
c. Yellow palmar creases, xanthomas (yellow papules) over elbows, knees and
buttocks.
163.
PCR uses primers which bind to flanking regions of DNA to be amplified.
a. So sequence of flanking regions must be known
b. Sequence of template to be amplified or cDNA sequence need not be known
in PCR
c. PCR can only amplify short DNA segments (upto 10 kb)
164.
Bohr-Haldane effect: Bohr effect occurs in peripheral tissue and Haldane
effect occurs in lungs.
a. Bohr effect: In peripheral tissue, pCO2 enters the RBC and O2 is
released, CO2 + H2O
HCO3- + H+;
b. HCO3- goes out of RBC in exchange for Cl-; this is called CHLORIDE shift
c. H+ is buffered by arginine present on Hb; doing this decreases the affinity
of Hb for RBC.
d. HALDANE effect: in lungs, pO2 conc ; HCO3- moves back into RBC in
exchange for chloride; HCO3- + H+
H2O + CO2. CO2 moves out of the RBC
called Haldane effect
165.
NADPH cant be used to convert ADP to ATP unlike NADH.
166.
Thyroid hormone receptors are located within the nucleus
a. Whereas receptors for glucocorticoid, adrenocorticoid, androgens and
estrogens are present in the cytoplasm
167.
In PROKARYOTES= photolyase enzyme can excise the thymine dimers
formed due to UC light; we need excision endonuclease or UV-endonuclease
168.
Gestational DM is a result of decreased glucokinase activity
a. Glucokinase is the enzyme in beta cells of pancreas required for insulin
secretion; as it metabolises glucose, ATP are formed and insulin is released.
169.
Succinate dehydrogenase: Succinate
fumarate; forms FADH2 from FAD.
a. Uses riboflavin or Vit B2.

170.
HCV is genetically unstable cuz it lacks the 3 5 exonuclease activity in its
RNA dependent RNA polymerase
171.
RASBURICASE and ALLOPURINOL to prevent tumor lysis syndrome.
a. Rasburicase is urate oxidase; converts urate
allantoin. Excreted in urine.
b. Peroxisomes contain uric acid oxidase enzyme.
c. Tumor lysis syndrome is hyperuricemia, hyperkalemia (peaked T waves),
hypocalcemia and hyperphosphatemia.
172.
Probenecid is uricosuric agent: given in gout and hyperuricemia.
173.
Heme
biliverdin by heme oxigenase
a. Biliverdin is green colored pigment; in hematomas or ecchymoses, this
pigment gives green color to skin
174.
Gouty arthritis: neutrophils phagocytose the negatively birefringent urate
crystals and release inflammatory cytokines.
a. Colchicines acts by inhibiting neutrophil migration by interfering with
microtubule function.
175.
Leptin hormone is secreted by the fat cells
a. It inhibits the production of neuropeptide Y from arcuate nucleus of
hypothalamus; neu. Y is an appetite stimulant
b. It stimulates the production of POMC (preopiomelanocortin) from arcuate
nulceus; POMC is cleaved to alpha-MSH which inhibits food intake.
c. Leptin production increases with increase in fat mass
d. In obese individuals, sustained inc levels of leptin results in leptin receptor
desensitisation; similar to insulin resistance
176.
HMP shunt occurs in the cytoplasm
177.
Must read table on glucose transporters in uworld photos
178.
Hyperammonemia: under normal ammonia levels; NH3 enters the brain
a. NH3 + glutamate
Glutamine; by glutamine synthase within the astrocyte
cytoplasm
b. Glutamine moves out of the astrocyte into the neuron; is converted back in
to glutamate
an imp neurotransmitter or glutamine
a-ketoglutarate
into TCA cycle
c. Under NH3 levels, more a-ketoglutarate is converted into glutamate and
glutamate further into glutamine, levels of both glutamate and aketoglutarate
d. a-ketoglutarate: poor energy levels
e. glutamine: glutamine is osmotically active
swelling of cells and
mitochondrial dysfnxn.
179.
OXINDOLE: Is a tryptophan derivative normally formed by the bacteria in
gut and CLEARED by LIVER; serum levels in hepatic encephalopathy
a. Causes sedation, Hypotension, muscle weakness and COMA
180.
All mRNA post translational modification occur in NUCLEUS
a. mRNA is stored in P bodies within the cytoplasm to be used later for protein
synthesis
181.
If a tRNA is incorrectly charged with wrong aa, that aa will be added to
growing polypeptide chain.

a. Some tRNA-aa synthase enzymes have prrof reading zctivity

182.
UDP galactose-4-epimerase converts UDP-galactose to UDP-glucose.
183.
Galactose
galactonic acid by galactose oxidase; this acid is used in HMP
shunt and is harmless
184.
TSH, FSH, LH and b-hCG have similar alpha subunit
a. TSH and b-hCG also have same beta subunit
b. So hCG can react with TSH receptors producing hyperthyroidism
c. Testicular tumors produce b-hCG and therefore cause hyper-T.
185.
Familial hypocalciuric hypercalcemia: defective Ca++ sensing by parathyroid
cells and renal tubular cells; resulting in failure to suppress PTH
a. PTH and Ca++ in this ds
186.
The complexity of eukaryotic DNA is due to presence of introns in b/w exons
187.
Secondary lactase deficiency (lactose intolerance) occurs in viral
gastroenteritis and celiac sprue.
a. Following infection, cells are damaged and replaced by immature cells that
contain low amount of lactase.
b. Lactose is laso written as galactosyl -1,4-glucose
188.
Diff b/w phenylketonuria nd malignant phenylketonuria
a. Malignant/atypical phenylketonuria is due to def. of dihydrobiopterin
reductase
BH4 is catalysed by above enzyme.
i. BH2
ii. Both phenylalanine hydroxylase and tyrosine hydroxylase use this
enzyme.
iii. Results in decreased synthesis of DOPAMINE from tyrosine and high
PROLACTIN levels.
189.
Cyanide poisoning:
a. Nitrites: Hb
MetHb; MetHb has high affinity for cyanide, advantage is
CN- is sequestered with in blood and isnt given the opportunity to bind cyt
a-a3 in mitochondria.
b. Thiosulfate: forms thiocyanante and is excreted in urine
190.
DNA A proteins recognise the origin of replication site
191.
WHO recommends administration of Vit A to children with measles in
areas with widespread vit A deficiency
a. Vit A reduces the recovery time from diarrhea and pneumonia
192.
Vit K def is seen mostly in
a. New born infants (low liver reserve, no microbial flora, low content in breast milk)
b. Generalised liver ds
c. Broad spectrum antibiotics
d. Malabsorption syn
193.
Insulin on its receptor
tyrosine kinase causing autophosphorylation
IRS-1 is activated by phosphorylation
PI3 kinase leads to GLUT4 translocation.
a. TNF-alpha: causes insulin resistance; by phosphorylating serine residues
on IRS-1 and insulin receptor itself leading to its inactivation.
b. Epinephrine, glucagon, FREE FATTY ACIDS and cortisol follow the same
mechanism.

c. Insulin resistance caused by FFA is termed LIPOTOXICTY

d. HDL and LDL have no effect on insulin signalling
e. Check photo in uworld photos.
194.
If a person is going on diet with h/o previous healthy diet and vitamin
deficiency symptoms take around 4 years to develop
a. Its Most likely cobalamin def cuz liver stores are sufficient to last around 34 years
b. Vit A stores last around 6 months
c. Folic acid lasts 3-4 months
d. Vit K def requires both dietary and bacterial deficit to develop
e. Vit A, K, B12, and folic acid are stored in the liver and vit D is stored in
the adipose.
195.
Defective glycolysis
ATP
deformed and stiff RBC membrane
chronic hemolysis
a. 95% cases are due to pyruvate kinase def.
196.
In sickle cell ds, aggregation of Hb molecules occurs cuz:
a. Cuz hydrophobic part of beta chain of one molecule fits into
complementary site on alpha chain on another molecule under anoxic
conditions
b. Hb is prone to sickling in tissues thru which blood passes very slowly like
brain muscle and placenta
c. Normally globin chains are folded such that hydrophobic parts are in the
interior and hydrophilic parts are placed exteriorly; alpha helix and beta
bends are formed but valine substitution doesnt allow this structure
formation.
d. Hb S doesnt polymerise when oxygenated and in the presence of HbF
197.
Mech of insulin release from beta cells
a. Glucose enters the beta cells
ATP via glycolysis and TCA cycle
ATP
+
+
binds to K ATP channel and closes it; K efflux stops, depolarising the cell
leading to opening of voltage gated calcium channels
Ca++ influx leads
to insulin release
i. Sulphonylureas act on K-ATP channels to close it in Type II DM
198.
Shine-dalgarno sequence is present in the prokaryotic mRNA which
recognises the COMPLEMENTARY SEQUENCE on 16S rRNA within the 30S
ribosome subunit.
a. Once 16S rRNA binds to mRNA, tRNA with fmet binds; followed by 50S
ribosomal subunit and initiation of translation.
b. Peptidyl transferase a/w 23S rRNA helps in formation of peptide bond
formation and transfer of peptide chain from A to P site.
c. Streptomycin binds to 30S ribosome and inhibits initiation
d. Chloramphenicol binds to peptidyl transferanse required to move aa from A
to P site;
e. Eryhtomycin and clindamycin inhibit translocation of ribosomes over
mRNA
f. Tetracyclines inhibit binding of aminoacyl tRNA to A site

199.

Vimentin protein undergoes change in tissue inflammation:

a. Arginine
citrulline; this serves as foreign antigen and Igs are produced
against this protein.
b. This immune response is exaggerated in RA and therefore, anti-CCP
antibodies are highly specific for RA.
c. RF is Ig against Fc of IgG and is found in 10% of healthy, 30% of pts with
SLE so is less specific for RA.
200.
Early enzyme def in heme synthesis like ALA dehydratase or HMB
synthase dont result in PHOTOSensitivity cuz the accumulated metabolites are
not porphyrinogens or porphyrins; so they cant react with O2 on exposure to UV
light.
201.
The basis of wobble hypothesis:
a. The 5 base of anticodon of tRNA has a diff spatial arrangement than other
two bases and inosine may be present at that site, it can pair with uracil,
adenine and cytosine.
202.
JAK-STAT pathway: no intrinsic tyrosine kinase activity.
a. Used by Growth hormone, prolactin, cytokines, IL-2 and Colony
Stimulating Factors
b. PIGLET: Prolactin, Immunomodulators, GH, G-CSF, Erythropoietin,
Thrombopoietin
c. Activate intracellular JAK which cross phosphorylate tyrosine residues on
the intracellular domain of receptor (autophosphyration)
203.
Ras-RAF kinase-MAP kinase pathway and mTOR pathway have intrinsic
tyrosine kinase activity.
a. Ras-RAF-MAP kinase is used by PDGF, EGF, FGF
204.
Ubiquitin-proteasome system req to remove misfolded protein.
a. Check photo in uworld photos
b. Absence of this enzyme causes parkinsons and alzhiemers ds
c. PINK-1, parkin and DJ-1 are a/w AR parkinsons <50years age, causing
defective ubiquitin system
d. Atleast 4 or more ubiquitin residues are essential for protein to be allowed
entry by proteosome
205.
Smooth endoplasmic reticulum contains enzymes for the synthesis of
steroids and phospholipids; ACTH increases their synthesis
a. The cells responsive to ACTH have highly developed SER
206.
Myoglobin is a single monomeric protein unit with only one HEME group.
a. No heme-heme interaction, therefore P50 = 1 mm Hg
b. OBC curve for myoglobin is HYPERBOLIC due to above reasons
c. Structure of single globin chains (alpha or beta) along with one heme group
is very similar to moglobin molecule, so they also have hyperbolic OBC if
dissociated and separated in a solutioin
207.
CARBON MONOXIDE competes with O2 to bind with the Fe inside heme.
a. It has 220 times higher affinity than O2 for Fe
b. Changes the Hb conformation to relaxed form which has high affinity for
O2 and not allowing the O2 to be released in to blood

c. pO2 of blood is unchanged

208.
TSH, Glucagon, PTH, Epinephrine use G-protein coupled receptors
209.
Amanitin or amatoxin from mushroom binds to RNA polymerase II and
inhibit mRNA synthesis
a. It is concentrated in the liver by active OATP and NTCP.
210.
Ricin: toxin from castor oil plant (ricinus) inhibits 60 S ribosome by
cleaving its rRNA
211.
Acyclovir and gancyclovir inhibit viral DNA polymerase.
212.
Structure of protein:
a. Primary structure: Peptide bond
b. Secondary structure: Hydrogen bond e.g. alpha helix: hydrogen bond at
every 4th aa
i. Beta-pleated: hydrogen bond between all residues anti-parallel.
ii. In Alzheimers ds: a-helix of amyloid
b-pleated structure,
accumulation of beta-amyloid meads to formation of senile plaques
c. Tertiary structure is stabilised by sulphide bonds (very strong covalent
bond), ionic bond, hydrophobic interaction or hydrogen bond
213.
CN III compression can be caused by aneurysm of PCA, posterior
communicating artery and superior cerebellar artery.
214.
Aneurysm in AICA can compress CN VII and CN VIII
215.
External carotid artery
maxillary artery
MIDDLE meningeal artery
a. External carotid A
occipital artery: supplies posterior scalp and
sternocleidomastoid
216.
VHL or von hippel lindau: capillary hemangioblastoma in retina and
cerebellum; congenital cysts and neoplasms in kidney, liver and pancreas
a. risk of Renal cell ca

b. External carotid A
facial artery
c. ECA
maxillary artery
sphenopalantine artery
217.
Internal Carotid artery
ophthalmic artery: supplies orbit, eye, forehead
and nasal mucosa
218.
Brocas aphasia: non fluent and sparse, broken speech comprising mostly
of verbs and nouns.
a. Patient is aware therefore frustrated
b. Brocas Aphasia is almost a/w with agraphia
219.
Lesion in anterior mid-pons: Coticospinal and coticobulbar tracts

a. Cortico-pontine fibres are also involved: these bring info from cortex to
pontine gray (pontine nuclei) and take it opposite cerebellum by decussating
at the level of middle cerebellar peduncle. Causing dysmetria and
dysdiadokkinesia on C/L side
220.
Sensory sensation from external auditory canal and outer surface of
tympanic membrane via CN V3 (mandibular nerve).
a. Inner surface of Tympanic membrane via CN IX (sensory)
b. Posterior wall of external auditory canal is supplied by CN X (sensory) if
irritated can lead to vasovagal syncope and fainting.
c. Pinna and EAC also supplied by CN VII (sensory)
d. Chorda tympani from CN VII: supplies Stapedius plus takes taste info
from ant 2/3rd of tongue and supplies PANS to sublingual and
submandibular glands.
221.
Superior gluteal nerve: gluteus medius and minimus.
a. Stabilises the pelvis and abduct the thigh. (check uworld photos)
b. Lesion results in C/L hip drop; leaning towards the side of lesion on
walking (leaning occurs to compensate the hip drop while walking)
222.

223.

HEMIANOPIA

a.

mayor/meyer is

superior
b. PCA stroke: C/L homonymous hemianopia with macular sparing cuz
macula region in striate or primary visual cortex receives collaterals from
MCA
c. MCA stroke: C/L hemiparesis upper body and loss sensation with
homonymous hemianopia with macular involvement (reason not known)
d. Cuneus gyrus: located in parietal lobe; receives info upper retina (lower
field)
e. Lingual gyrus: a/w Meyers loop; receives info from lower retina (upper field)
224.
Wernickes area (AREA 22) is located in superior temporal gyrus of
temporal lobe in auditory association cortex; supplied by MCA
225.
What is a lacunar infarct:
a. Occurs in diabetic and hypertensive patients mostly but can also occur
from embolic events.
b. Internal capsule, thalamus, basal ganglia (e.g. subthalamic nucleus) and
other deep structures are most likely involved
c. <1cm diameter small cavities are formed.
d. DM and HTN cause hyaline arteriosclerosis (microatheroma) or
lipohyalinosis of deep penetrating arteries.
e. Lipohyalinosis and microatheroma most imp causes of lacunar infarct
over embolic ds from mitral valve ds or carotid atherosclerosis.
f. Subthalamic nucleus lesion causes hemiballismus: flinging movements of
C/L arm or leg.
226.
Tensor tympani is supplied by CN V3; it serves to increase the tension of
tympanic membrane and dampening sound transmission
227.
Syringomyelia: most common location is C8-T1
a. Damage to ventral white commisure (loss of B/L pain and temperature
below the lesion)
anterior horn damage (LMN lesion at the site of
damage)
later may affect lateral corticospinal tract (UMN lesion below
the level of lesion)

228.

Conus medullaris syndrome: the nerve roots involved are: S1-S5

a. Sacral outflow is parasympathetic outflow
b. Symptoms are:
i. Rectal and bladder flaccid paralysis (like a LMN lesion)
ii. Saddle anaesthesia (S3-S5 roots):
iii. Impotence: scrotum has S3 supply and penis has S2 supply.
iv. Lower limbs are spared
v. Anocutaneous reflex is present in this ds??
229.
Cauda equina syndrome: includes nerve roots L1-L5 and S1-S5
a. Low back pain (sciatica like pain) is imp symptom
b. Bladder and rectal incontinence
c. Saddle anesthesia (S3-S5)
d. Impotence
e. LMN LESION OF LOWER LIMBS (L1-L5)
f. Absent Achilles tendon reflex.
g. Absent anocutaneous reflex i.e. pinprick in perianal area doesnt cause
anal sphincter contraction.
230.
Inferior gluteal nerve: supplies gluteus maximus
a. Getting up from sitting position by extension and external rotation of
thigh at hip.
231.
Obturator nerve: adduction of thigh
232.
Cranial tumors page to be pasted in first aid book or uworld dairy
notebook
233.
In the CNS, Nitric oxide is present in cortex, hippocampus, hypothalamus,
cerebellum and olfactory system and participates in formation of new
memories. NO can freely cross the membranes and doesnt need to act on
synapse
234.
Macular degeneration: age related small yellow retinal lesion clustered in
the macula
a. Dry MD: due to deposition of fatty tissue (drusen) in the bruch membrane
and retinal pigmented epithelium.
b. Wet MD: due to choroidal neovascularisation (give anti-VEGF or laser).
c. Macula has high number of cone cells which synapse with equal no. bipolar
cells; macula representation on visual cortex area is large and separate
from peripheral visual fields.
235.
ARCUATE SCOTOMA: due to damage in particular region of optic nerve
head.
236.
Intracerebral hmg: HTN is the cause
a. Pt with HTN develop charcot-bouchard aneurysm, these aneurysms may
rupture due to uncontrolled HTN
b. Mostly occur in BASAL GANGLIA, THALAMUS, PONS and Cerebellum.
c. Lenticulostriate arteries are mostly affected
d. How aneurysm develops? HTN causes vascular hyalinisation and fibrinoid
necrosis causing the walls to weaken and develop aneurysm.

e. Bright lesion/ hyperattenuated lesion on CT means acute bleeding in

parenchyma; suggests a haemorrhagic stroke over ischemic.
f. Carotid atherosclerosis: causes ischemic stroke; we see a cavity like
lesion filled with CSF in an ischemic stroke on CT scan; less likely to see a
bright lesion on CT scan
237.
Chronic HTN can also lead lipohyalinosis, microatheroma formation and
occlusion of vessel. This is an ischemic stroke unlike Intracerebral hmg
a. Necrotic area is eaten up a cavity is formed filled with CSF seen on CT.
238.
Hypertensive encephalopathy: characterised by progressive headache,
nausea/ vomiting and non localising neurological symptoms like confusion
a. Focal neurological deficits like limb weakness and numbness exclude
HTNsive encephalopathy.
239.
Complication of SAH: Patient has an increased risk of VASOSPASM 4-12
days (not visible on CT scan); can cause weakness and paralysis.
a. Occurs in arteries surrounding the aneurysm due to impaired brain auto
regulation
b. 2nd common complication but most dangerous is rebleeding. (seen on CT)
c. If CT shows dilated ventricles: hydrocephalus; causes confusion,
incontinence, and gait instability.
240.
Amyotrophic lateral sclerosis: Combined UMN and LMN lesion
a. Affects the anterior horn neurons: LMN lesion
b. Anterior spinal nerve roots: LMN lesion
c. Lateral corticospinal tracts: UMN lesion
d. Precentral gyrus: UMN lesion
e. Loss of neurons in CN V, VII, IX and X
f. Mutation of copper-zinc SOD 1 (superoxide dismutase)
241.
Vit. B12 deficiency: causes demyelination in dorsal columns and lateral
CST
242.
What is wallerian degeneration and axonal reaction
a. Wallerian deg: when an axon is severed due to trauma, the part of axon
distal to injury undergoes swelling.
b. It is digested by Schwann cells and macrophages into small pieces
c. Similar changes in axon proximal to injury upto closest node of ranvier
d. AXONAL RXN: changes that occur in neuronal cell body; becomes swollen
and rounded with eccentric nucleus and enlarged nucleolus.
e. Nissl granules are dispersed thru out the cell body; increase in the
protein synthesis for repair of the axon
243.
In hypoxia causing irreversible cell injury: RED NEURON (the sufferer)
well see shrinkage of cells, with loss of nissl substance, eosinophilia of
cytoplasm and pyknosis of nucleus.
244.
Neuronal atrophy: seen as loss of neurons and reactive gliosis.
245.
In case of hmg in brain: a CT scan without contrast is diagnostic.
246.
How to differentiate bw intracerebral hmg and SAH
a. The former usually presents with FOCAL deficits where as SAH presents
w/o FOCAL deficits but usually has severe sudden headache in vignette.

247.
Area Postrema contains Chemoreceptor Trigger zone (CTZ) present on the
Dorsal Surface of the Medulla.
248.
Problem walking downstairs or reading newspaper: CN IV palsy; leads to
vertical diplopia
a. CN III palsy: causes horizontal and vertical diplopia both.
b. CN VI palsy: horizontal diplopia
c. INO: nystagmus
249.
Paraneoplastic cerebellar degeneration: occurs in small cell ca of lung,
breast ca, ovarian and uterine malignancies.
a. Autoimmune disorder; Igs are formed against the cerebellum Purkinje
cells.
b. Anti- Yo, Anti-Hu and Anti-P/Q are found in the serum.
250.
Acute cerebellitis (post-viral cerebellar ataxia): occurs in children after
viral infection like EBV, varicella and measles.
a. Ataxia, nystagmus and dysarthria
b. Resolves itself in weeks
251.
Cerebellar infarction: vertigo, nystagmus, ipsilateral limb ataxia and
truncal lateropulsion (falling towards the side of lesion).
252.
Lambert-Eaton syndrome: small cell lung ca antibodies to presynaptic
voltage gated Calcium channels. Paraneoplastic syn
a. These calcium channels fail to allow calcium influx and hence no Ach
release.
b. Usually presents as proximal leg muscle weakness with difficulty climbing
stair and getting up from siting position.
c. No involvement of ocular or pharyngeal muscles like in MG
d. With repetitive use or exercise, strength of muscle improves; opposite
occurs in MG

e.

f. Reflexes are absent initially but improve with repetitive stimulation.

g. Autonomic NS: xerostomia and impotence.
253.
Oligodendrocyte depletion is seen in two ds: MS and multifocal
leukoencephalopathy.
254.
Menieres ds is triad of SNHL, vertigo and tinnitus
a. Caused by increased endolymph due to decreased resorption.
b. Labyrinthitis: Nausea, vomiting and vertigo.
255.
Cutaneous Neurofibroma in NF-1 are derived from Schwann cells
a. Schwann cells originate from neural crest cells.
b. These tumors show buttonholing on gentle pressure
256.
Muscles of the lid:
a. LPS: CN III motor supply
b. Mullers muscle: sympathetic supply
c. Orbicularis oculi: CN VII motor supply (SSE) with muscles of facial
expression.
257.
CN III is MOST COMMONLY lesioned in diabetic mononeuropathy.
258.
First arch syndrome = treacher-collin syndrome and pierre robin
syndrome
a. Treacher-collins syndrome: Underdeveloped mandible, zygoma, malformed
external ear, cleft palate & Conductive hearing loss.
b. Pierre collins syndrome: retrognathia, cleft palate and glossoptosis
(causing airway depression)
259.
In GBS (guillian)m CSF has increased protein with normal cell count called
albumin-cytologic dissociation)
260.
Transtentorial/uncal herniation symptoms
a. Compreses on CN III
b. Compresses the PCA: C/L homonymous hemianopia with macular
sparing
c. Compression of C/L cerebral peduncle against tentorium leads to
ipsilateral hemiparesis
d. Brainstem hmg in pons or midbrain: DURET hmg due to rupture of basilar
artery.
261.
Causes of CARPAL TUNNEL syndrome:
a. Pregnancy (fluid accumulation)
b. Hypothyroidism (GAG build up)
c. Rheumatoid arthritis (tendon inflammation)
d. Diabetes (connective tissue thickening)
e. Dialysis associated amyloidosis (beta-2-microglobulin deposits)
262.
In ischemic stroke: macrophages invade the ischemic area and eat up the
neuronal elements so that eventually, a cystic area is formed.
a. The cystic area is surrounded by ASTROCYTES and their processes form
the wall of the cyst.
263.
Pancoast tumor:
a. Horner syndrome
b. Ipsilateral weakness and pain.

264.
Vertigo occurs only due to vestibular system.
265.
Lesion in the pons causes coma, bilateral paralysis, decerebrate rigidity,
pin-point pupils and often death.
266.
Lesion in caudate nucleus causes: transient hemiparesis and frontal lobe
symptoms like inattentiveness, abulia and forgetfulness.
a. Choreoathetosis, agitation nd psychosis may occur
267.
Puffer fish: contains tetrodoxin in the gall bladder
a. This toxin is Na+ channel blocker: inhibits the depolarisation of neurons
b. Leads to weakness in muscles, loss of reflexes, paraesthesia and dizziness
c. Another similar toxin is SAXITOXIN: present in SHELLFISH, produced by
alga dinoflaggeslates: paralytic shell fish poisoning
d. NA+ channel blocker.
e. Death usually occurs by respiratory muscle paralysis
268.
Ciguatoxin (exotic fish, moray eel): binds to Na+ and keeps it open causing
persistent depolarisation
a. Vomiting, diarrhea, numbness, reversal of hot and cold sensation, muscle
and joint aches.
269.
Batrachotoxin: same mechanism of action
270.
An ion with negative equilibrium potential is K+ or Cla. If a membrane is permeable to any of the two ions, the membrane potential
will become negative
b. Conversely, Na+ and Ca++ have positive equilibrium potential
c. So a membrane permeable to Ca or Na, will have a positive membrane
potential.
271.
Proopiomelanocortin (POMC): is cleaved into beta-endorphin, ACTH and
a-MSH
a. Beta-endorphin is a precursor of endogenous opiods and act on mu-, delta
and kappa-receptors
b. a-MSH: is produced from intermediate lobe of pituitary and increases
MELANIN secretion. So melanin production is increased in ADDISONs ds.
c. So endorphins are structurally similar to ACTH
272.
Prolactin is structurally similar to GH
273.
Shrunken neurons with eosinophilic cytoplasm are dead neurons. They
dont undergo hypertrophy but are replaced by astrocytes.
274.
Primary CNS lymphoma: MC CNS tumour in immnosuppressed or HIV
patients.
a. Originates from B-cells. Diffuse large B-cell lymphoma is the subtype, cells
are positive for CD-20 and CD-79 marker
b. This disease is a/w EBV infection
275.
Temporal arteritis: jaw claudication, tongue pain, scalp tenderness on
combing, painless vision loss
a. Occurs after age 65 years.
b. Temporal artery is palpable as painful, hard subcutaneous cord
c. ESR (>100mm/hr) is very high and is sustainably inc thru the course of
disease.

d. Half of the patients with this ds have polymyalgia rheumatic ( neck pain,
shoulder girdle, pelvic girdle and morning stiffness)
e. Fever, myalgia and weight loss may occur
f. CORTICOSTEROIDS are given to prevent BLINDENSS
g. Temporal artery biopsy is definitive dx
276.
Mesolimbic-mesocortical pathway is hyperactive in SCHIZOPHRENIA.
a. Neuroleptics inhibit dopamine in this pathway.
277.
ACA occlusion affect the motor-sensory fnxns odf C/L leg and foot
a. Bilateral ACA occlusion can cause URINARY INCONTINENCE (mesial
frontal lobe:frontal micturition centre) and behavioural changes (abulia)
278.
OCCLUSION of MCA: affects gripping, whistling, swallowing, brocas
aphasia (if dominant hemisphere), wernicke aphasia, anosognosia (nondominant), conjugate gaze deviation towards the side of lesion (FRONTAL eyefield area is involved), contralateral homonymous hemianopsia and spatial
neglect of C/L side (if parietal lobe lesion)
279.
CNS bacterial infections and Stroke: liquefactive necrosis
a. Why liquefactive? Cuz CNS tissue lacks the supportive stroma and
hydrolytic enzymes digest the cells into viscous fluid mass
b. This fluid mass in yellow colored due to presence of dead leukocytes
280.
Caseous necrosis: TB and FUNGAL infections like histoplasmosis,
Cryptococcus and coccidioides.
281.
Germinal matrix hmg: Germinal matrix is an embryonic tissue from which
neurons and glial cells come out during development of brain.
a. Present in subependymal region of lateral ventricles
b. Highly cellular and profusely vascular. These blood vessels are not
supported by astrocytes and hence are weak and prone to haemorrhage
c. GM hmg occurs in premature infants born b/w 24-32 weeks and birth
weight <1500 gms.
d. Grade I: Hmg confined to subependymal region
e. Grade II: Hmg extends to normal sized ventricles
f. Grade III: Hmg in the ventricles and they are dilated
g. Grade IV: Ventricles rupture due to hmg and it extends into surrounding
white matter.
h. Germinal matrix: is only present in the caudo-thalamic groove by 32 weeks
and it disappears by 35 weeks.
282.
Lateral inferior pontine syndrome: by occlusion of AICA.
a. C/L loss of pain and temp
b. Ipsilateral deficits of CN V and CN VIII
c. Horner syndrome
d. Cerebellar symptoms
283.
PICA or lateral medullary syndrome
a. C/L loss of pain and temperature
b. Ipsilateral deficits of CN V, VIII, IX, X and XI
c. Horner syndrome
284.
Opsoclonus- myoclonus syndrome: paraneoplastic syndrome

a. Seen in neuroblastoma (adrenal medulla tumor): tumor of pre ganglionic

neurons
b. Children <5years age
c. N-MYC gene amplification
d. Myoclonic jerks, chaotic eye movements (conjugate non-rhythmic eye
movements in various directions (dancing eyes-dancing feet)
e. Tumor is composed of small round blue cells. Small cells with dark nuclei
and scant cytoplasm
f. HOMER-WRIGHT rosettes are seen.
g. Metastasis occurs to: spine, periorbital region, liver, skin and bone
marrow
h. urine catecholamines (HVA and VMA)
285.
Tuberculous meningitis: causes communicating hydrocephalus
286.
Choroid papilloma also causes communicating hydrocephalus with
symmetric ventricular enlargement
287.
Werdnig-hoffman syndrome: results from anterior horn cell. LMN lesion.
288.
Three micturition centres are normally seen:
a. Sacral micturition centre: located in S2-S4 cause the contraction of
bladder. PANS fibres travel via spinal nerves and stimulate cholinergic
receptors in bladder wall.
b. Pontine micturiton centre: located in pontine reticular formation,
coordinate the relaxation of EUS with contraction of bladder.
c. Cerebral cortex: inhibits sacral micturition centre; this centre is
destroyed in normal pressure hydrocephalus and causes urge incontinence
or reflex emptying of bladder.

No effect of
ADH inj

289.
In psychogenic polydipsia: Serum Na+ <137 mEq/L
Restriction of water normalises urine output in polydipsia
Central/nephrogenic DI: serum Na+ >142 mEq/L
No effect of ADH in polydipsia due to partial deficiency of aquaporins
In urine deprivation test: two consecutive readings showing very little
changes are noted and vasopressin in infused.
f. Partial CDI means some ADH is present and on Vasopressin infusion,
<50%increase in urine osmolality is seen
g. Complete CDI: no ADH present; Vasopressin administration causes >50%
inc in Urine osmolality.

a.
b.
c.
d.
e.

290.
a. Non-malignant arterial HTN can cause morning occipital headache.
291.
Central pontine myelinolysis:
a. Demyelination of corticospinal fibres: causes quadriplegia
b. Psedobulbabr palsy: demyelination of corticobulbar fibres of CN IX, X, XI
causes muscle weakness of head and neck
c. Remember bulbar palsy is due to pathology of nuclei of these CN
292.
Hyoglossus, genioglossus and styloglossus are supplies by CN XII
a. Hes stylo but not genius
b. Palatoglossus is supplied by CN X
c. Terminal sulcus and foramen caecum divide the tongue into ant 2/3rd and
post 1/3rd
293.
The pineal body contains pinealocytes and glial cells but no neurons.
Pinealocytes synthesize melatonin, serotonin, and cholecystokinin
a. Pineal tumour (pinealoma) causes PARINAUD syndrome due to compression
of upper mid brain (i.e. superior colliculus) and pretectal area resulting in
loss of conjugate vertical gaze and abnormal pupil reflex.
b. Germinomas are MC pineal gland tumours. Originate from embryonic germ
cells. May resemble seminoma of testes
c. Male predominance
d. Precocious puberty due to hormone secreting tumour.
e. Precocious puberty in boys <9 years and girls <7years
294.
Testosterone gives negative feedback to LH and GnRH levels
a. Inhibin B gives negative feedback to FSH levels only
295.
GnRH release is inhibited by
a. High Cortisol levels
b. High prolactin levels
Prolactinoma: tumor size < 10 mm FEMALES (early presentation)
296.
a. Tumor size >10 mm MALES (late presentation due to no symptoms)
b. 60% of pituitary tumors are prolactinoma

297.
298.

Little in Magnesium stimulates production of PTH

a. Very very Low magnesium levels can HypoPTH
b. Low Mg levels occur in DIARRHEA, Aminoglycosides, Diuretics & Alcohol
abuse (DADA has low Mg)
299.
GLUT-4 allow only D-glucose to enter the cells not L-glucose
300.
Insulin and exercise: take 15-4- gm immediately available carb before
exercise
a. Insulin peak affect shouldnt coincide with exercise time
b. Never inject insulin in limbs to be exercised cuz insulin absorption will be
increased and it may cause hypoglycaemia
301.
Exercise and insulin: exercise insulin sensitivity in a muscle
a. Exercise insulin independent glucose uptake
302.
During infection, sleep deprivation and pain
catecholamines
decreases the insulin secretion and cause Hyperglycaemia
303.
Medullary Ca thyroid: RET protooncogene, polygonal cells with
extracellular amyloid deposits which stains with CONGO RED
a. Arises from para-follicular C cells; MEN2A and MEN2B.
304.
Most suggestive sign of gastrinoma is JEJUNAL ulcers
305.
Medullary ca of thyroid presents as COLD nodule
306.
TETNAUS SUSPECTED: No toxin assay test
a. No antibody titre test
b. No blood culture cuz organism is present in the wound. Infrequently,
organism may be seen in the blood but culture would take 2-3 days to
identify
c. No neuroimaging for tetanus
d. All u can do is take appropriate history about lat vaccine and do P/E to rule
out trismus, risus sardonicus and muscle spasms.

307.

Hypothyroidism.
a. GAG deposits in vocal cords

HOARSENESS

308.

309.
310.
311.

312.

a. Hypothyroid myopathy: characterised by MYOEDEMA, raised CK levels

b. Myoedema occurs secondary to slow Ca++ reuptake by SER
Vitamin D def leads to proximal muscle pain and weakness a/w bone pain
CK-MB= heart; CK-BB= brain; CK-MM= skeletal muscle
Craniopharyngioma: three components (age 5-10 years)
a. Solid: tumor cells make this component
b. Cystic: liquid filled with machinery oil
c. Calcified.
TSH Is the most sensitive screening test for hypothyroidism
a. TSH rise occurs even before low T3 or T4 is seen.

313.
Anorexia nervosa body Fat GnRH
menorrhea estrogen
osteoporosis
a. This sequalae of osteoporosis also occurs in athletes, ballet dancers, long
distance runners and cachetic patients
314.
BROWN FAT: present around kidney and adrenal
a. Tan brown color is due to HIGH no. of Mitochondria
b. They have several intracytoplasmic fat vacuoles compared to one vacuole
in white adipose tissue
c. Their O2 requirement is high.
315.
Insulin glucagon secretion
a. Glucagon insulin secretion cuz its structure is similar to SECRETIN
b. Insulin has no effect in increasing renal threshold for glucose absorption
316.
Pituitary adenoma secretion excess ACTH
HYPERPLASIA of zona
fasciculate and reticulate
a. Hypertrophy is less prominent compared to hyperplasia

b.
317.
a.
b.
c.
318.
a.

CUSHING syndrome
CONGENITAL adrenal hyperplasia due to 17a-hydroxylase def:
All patients are phenotypically FEMALES
46-XX are asymptomatic until puberty after which no sec sexual
development occurs
46-XY have female external genitalia but without uterus.
5-reductase def: Males have ambiguous genitalia (dependent on DHT)
Males develop normal sec sexual characteristics (dependent on Testo)

319.
a. Urine drug assay for sulphonylurea or meglitinides is done

b. All C-peptides and some proinsulin are secreted into blood a/w insulin
320.
Macrosomia: birth weight >4 kgs.
a. Insulin cant cross the placenta.
b. Infants of uncontrolled diabetic mothers can have
i. CAUDAL REGRESSION SYNDROME, Renal agenesis, rectal atresia,
transposition of great vessels and VSD.
c. Maternal thyroid hormones cross the placenta and keep the fetus
euthyroid.
321.
IGF-2 is important for fetal development; not found in adults.

322.
Manifestations of DM Type I occurs when islets are >90% destroyed
The destruction is caused by CELL mediated immunity
Antibodies only play a permissive role.
AMYLOID deposition is seen type II DM. ISLET AMYLOID PEPTIDE is
secreted by islets cells.
323.
Varicocele (15-25years): bag of worms due to pampiniform plexus
a. Left renal vein takes supply from left spermatic vein and left suprarenal vein
b. Right renal vein stays alone: right spermatic and suprarenal drain directly
into IVC
324.
a.
b.
c.
d.

SIADH

RENIN
ANP; BNP

325.

326.

SIADH
a. Euvolemic hyponatremia: hyponatremic cuz more water in being
absorbed by ADH and ANP leads to Natriuresis
i. Euvolemic cuz increased water absorption has been compensated by
ANP/BNP and RENIN
b. Patient will present with hyponatremia, plasma concentration, and
high urine concentration comparatively.

a. Peripheral conversion of T4 T3 is inhibited by PTU, glucocorticoids

(prednisone), amiodarone, iopanoic acid and non selective beta blockers
327.
COPPER reduction test: used to test reducing sugar in urine
a. Positive if fructose, glucose or galactose is present in urine.
328.
How is ovulation induced in infertile women?
a. Menotropin (human menopausal gonadotropin) functions like FSH: causes
the maturation of follicle
hCG (functions like LH) causes the rupture of
follicle and ovulation occurs.
329.
Hirsutism: male pattern hair growth
a. Virilization: Hirsutism plus clitoromegaly, masculinisation and Voice
deepening
b. OCPs LH
testosterone production
hair growth
c. 5 reductase inhibitor: DHT
hair growth ( also given in PCOD to
pts who dont respond to OCPs.