Badrawy Notes For MRCP

CRUSH the MRCP

The ULTIMATE REVISION
Basic Science
BY
Dr.Sherif Badrawy
Critical Care
Basic Science
Badrawy Notes For MRCP Digitally signed by
Dr.Sherif Badrawy

Dr.Sherif
DN: cn=Dr.Sherif
Badrawy, o=KKUH,
ou=Critical Care,
Badrawy email=sherif_badraw
y@yahoo.com, c=SA
Date: 2014.12.14
15:45:41 +03'00'

MNEMONIC Type 1 hypersensitivty:

"First and Fast"

1a
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Badrawy Notes For MRCP

First = first type

Fast = anaphylaxis
Antigen + IgE bound to mast cells
degranulation of mast cells.

1b
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Badrawy Notes For MRCP

MNEMONIC Type 2 hypersensitivity:

"type 2 is cy-2-toxic"

2a
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cytotoxic (antibody mediated)

IgG or IgM binds to antigen on cell
surface
Autoimmune hemolytic anemia,
ITP, Goodpasture's
2b
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Badrawy Notes For MRCP

MNEMONIC Type 3 hypersensitivity:

"imagine an immune complex as 3
things stuck together"

3a
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antigen+AB+complement deposition on
the complex on the tissue
immunological tissue destruction.
Serum sickness, SLE, post-streptococcal
glomerulonephritis, extrinsic allergic
alveolitis
3b
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Badrawy Notes For MRCP

MNEMONIC Type 4 hypersensitivity

= "4th and last"

4a
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delayed hypersensitivity

4b
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MNEMONIC Type 4 hypersensitivity

= 4 T's

5a
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T cell mediated
Transplant rejections
TB skin tests
ConTacT dermaTiTis
scabies
exTrinsic allergic alveoliTis
5b
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MNEMONIC hypersensitivities: ACID

6a
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A = anaphylactic and atopic (1st)

check by skin prick test.
C = cytotoxic (2nd) check by Intra
dermal injection.
I = immune complex (3) check by
Antibody level.
D = delayed (4) check by patch test.
6b
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Bruton's agammaglobulinemia:
Think B's ?

7a
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Bruton's
Boys
no B cells maturation recurrent
pyogenic infections once maternal
antibody levels fall.

7b
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Hyper-IgE syndrome (Job's

syndrome): FATED

8a
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F = coarse Facies
A = staphylococcal Abscesses
T = retained primary Teeth
E = increased IgE
D = dermatologic problems (eczema)
Reduced chemotactic response by
neutrophils. Associated with red hair and
fair skin.
8b
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Wiskott-Aldrich syndrome: Triad TIE

9a
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T = thrombocytopenic purpura
I = infections
E = eczema

9b
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HLAs are encoded for by genes on

which chromosome ?

11a
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chromosome 6.

11b
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class I HLAs antigens ?

12a
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HLA A, B and C

12b
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class II HLAs antigens ?

13a
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HLA DP, DQ, DR

13b
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HLA-B27 disease association ?

14a
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Ankylosing spondylitis
Postgonococcal arthritis
Acute anterior uveitis
Reiter's syndrome (reactive
arthritis)
14b
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HLA-DR2 disease association ?

15a
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Narcolepsy
Goodpasture's

15b
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HLA-DR3 disease association ?

16a
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Autoimmune hepatitis
Primary biliary cirrhosis
Diabetes mellitus type 1
Dermatitis herpetiformis
Coeliac disease (95% associated
with HLA-DQ2)
Primary Sjgren syndrome
16b
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HLA-DR4 disease association ?

17a
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Rheumatoid arthritis
Diabetes mellitus type 1 (> DR3)

17b
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HLA-DR3 + DR4 combined disease

association ?

18a
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Diabetes mellitus type 1

18b
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HLA-B47 disease association ?

19a
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21-hydroxylase deficiency

19b
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HLA-A3 disease association ?

2a
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Hemochromatosis

2b
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HLA-B5 disease association ?

21a
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Behcet's disease

21b
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Felty's syndrome HLA association ?

22a
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HLA-DRW4
HLA-DR4

22b
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CD1 significance ?

23a
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presents lipid molecules

23b
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CD2 significance ?

24a
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Found on thymocytes, T cells, and

some natural killer cells signal
transduction and cell adhesion

24b
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CD3 significance ?

25a
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The signalling component of the T

cell receptor (TCR) complex

25b
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CD4 significance ?

26a
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Co-receptor for HLA class II; also a

receptor used by HIV to enter T cells

26b
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CD8 significance ?

27a
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Co-receptor for HLA class I; also

found on a subset of myeloid
dendritic cells

27b
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Type 5 hypersensitivty:Stimulated
hypersensitivity ?

28a
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IgG antibodies stimulate cells they

are directed against
Graves', myasthenia Gravis

28b
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Uses of Skin prick test ?

29a
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food allergies,pollen and wasp/bee

venom
histamine (positive) and sterile
water (negative) control
Interpret after 15 minutes
29b
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Uses of Radioallergosorbent test

(RAST) ?

3a
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amount of IgE that reacts specifically with

suspected or known allergens
food allergies inhaled allergens (e.g.
pollen) and wasp/bee venom
Blood tests may be used when skin prick
tests are not suitable extensive eczema
or if the patient is taking antihistamines
3b
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Uses of Skin patch testing ?

31a
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CONTACT DERMATITIS.

31b
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IgG % of serum Abs ? & half-life ?

32a
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75% -7-23 days

32b
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Functions of The Fc portion of IgG ?

33a
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activate the classical complement pathway.

bind to macrophage and
neutrophils phaGocytosis
bind to NK cells antibody-dependent
cytotoxicity
cross the placenta the only Ab that can
cross the placenta fetal circulation
33b
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IgA % of serum Abs ? half-life ?

34a
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15%- 5 days.

34b
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Functions of IgA ?

35a
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secretory IgA (sIgA) (in body secretions) where it protects

internal body surfaces exposed to the environment by
blocking the attachment of bacteria and viruses to mucous
membranes.
IgA is made primarily in the mucosal-associated lymphoid
tissues (MALT).
Fc portion of secretory IgA binds to components of
mucous and contributes to the ability of mucous to trap
microbes.
activate the alternative complement pathway. (IgA =
Alternate)
35b
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IgM % of serum Abs ? half-life ?

36a
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10% -5 days.

36b
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Functions of IgM?

37a
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first antibody produced during an

immune response.
Fc portions of IgM are able to activate
the classical complement pathway (most
efficient)
IgM are found on the surface of B-
lymphocytes as B-cell receptors or sIg.
37b
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IgD % of serum Abs ?

38a
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1%

38b
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Functions of IgD?

39a
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on the surface of B-lymphocytes (along

with monomeric IgM) as a B-cell receptor
or sIg where it may control of B-
lymphocyte activation and suppression.
play a role in eliminating B-lymphocytes
generating self-reactive autoantibodies.
39b
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IgE % of serum Abs ? half-life ?

4a
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0.002%-2 days

4b
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Functions of IgE?

41a
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made in response to Allergens, parasitic worms

(helminths) and arthropods can bind to eosinophils
enabling opsonization.
Most IgE is tightly bound to basophils and mast
cells via its Fc region. allergic reactions through
release of vasodilators for an inflammatory response.
may protect external mucosal surfaces by
promoting inflammation, enabling IgG, complement
proteins, and leucocytes to enter the tissues.
41b
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Examples of Primary
Immunodeficiency dt Neutrophil
disorders ?

42a
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Chronic granulomatous disease.

Chediak-higashi syndrome.
Leukocyte adhesion deficiency.

42b
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Examples of Primary
Immunodeficiency dt B-cell disorders
?

43a
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IgA deficiency.
Bruton's congenital
agammaglobulinemia.
Common variable
immunodeficiency.
43b
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Examples of Primary
Immunodeficiency dt T-cell disorders
?

44a
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DiGeorge syndrome
microdeletion syndrome .
Patients at risk of viral and fungal
infections.

44b
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Examples of Primary
Immunodeficiency dt Combined B-
and T-cell disorders ?

45a
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Severe combined immunodeficiency

Ataxic telangiectasia(Autosomal
recessive - 10% risk of developing
malignancy, lymphoma or leukaemia.
recurrent chest infections)
45b
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Definition of Wiskott-Aldrich
syndrome ?

46a
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X-linked recessive.
mutation in the WASP gene.
recurrent bacterial infections
(e.g.chest)eczema &
thrombocytopenia + IgG).
46b
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cANCA =?

47a
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Wegener's Granulomatosis positive

in > 90%
Microscopic polyangiitis, positive in 40%
Some correlation between cANCA
levels and disease activity
Most common target serine proteinase 3
(PR3)
47b
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pANCA =?

48a
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Churg-Strauss syndrome +
others
Cannot use level of pANCA to
monitor disease activity
Most common target is
myeloperoxidase (MPO)
48b
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Etiology of pANCA ?

49a
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Churg-Strauss syndrome
Wegener's granulomatosis
Microscopic polyangiitis
immune crescentic glomerulonephritis
Inflammatory bowel disease (UC > Crohn's)
Connective tissue disorders: RA, SLE,
Sjogren's
Autoimmune hepatitis
49b
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Disease associated with C1 inhibitor

(C1-INH) Complement deficiency ?

5a
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hereditary angiedema
it's a serine protease inhibitor
mechanism is uncontrolled release of
bradykinin edema of tissues

5b
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Disease associated with C1q, C1rs, C2,

C4 Complement deficiency ?(classical
pathway components)

51a
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immune complex disease

E.g. SLE, HSP

51b
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Disease associated with C3

Complement deficiency ?

52a
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recurrent bacterial infections

52b
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Disease associated with C5

Complement deficiency ?

53a
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Leiner disease ( long lasting

seborrhea dermatitis + likelihood
to infection).
Recurrent diarrhea, wasting and
seborrhoeic dermatitis
Disseminated meningococcal
infection.
53b
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Disease associated with C5-9

Complement deficiency ?

54a
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Neisseria meningitidis infection

Encodes the membrane attack
complex (MAC)

54b
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Causes of Normal Anion gap

metabolic acidosis ?

55a
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U S E D C A R PAR T S
U Ureterosigmoidostomy
S saline administration (in the face of renal dysfunction)
E Endocrine Addisons
D Diarrhea
C Carbonic anhydrase inhibitors
A Ammonium chloride
R Renal tubular acidosis
PAR PARathyroid Adenoma
T Triamterene, amiloride
S Spironolactone
55b
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Causes of High Anion gap metabolic

acidosis ?

56a
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MUDPILES
M-Methanol
U-Uremia (chronic renal failure)
D-Diabetic ketoacidosis
P-Propylene glycol,Paraldehyde
I-Infection, Iron, Isoniazid, Inborn errors of
metabolism
L-Lactic acidosis
E-Ethylene glyco,Ethanol
S-Salicylates
56b
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Types of Lactic acidosis ?

57a
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Lactic acidosis type A: shock,

hypoxia, burns
Lactic acidosis type B: metformin
Inborn error of metabolism

57b
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Causes of Metabolic Alkalosis ?

58a
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loss of hydrogen ions or a gain of bicarbonate

CLEVER PD
Contraction (volume)
Liquorice*
Endo: (Conn's/Cushing's/Bartter's)*
Vomiting/ aspiration (e.g.Peptic ulcer pyloric stenosis, NG
suction)
Excess Alkali*
Refeeding Alkalosis*
Post-hypercapnia
Diuretics
* = Associated with High Urine Cl levels
58b
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Mechanism of metabolic alkalosis ?

59a
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Activation of (RAAS) is a key factor

Aldosterone reabsorption of Na+ in exchange
for H+ in the DCT
ECF depletion (vomiting, diuretics) Na+ and
Cl- loss activation of RAAS aldosterone levels
In Hypokalemia, K+ shift from cells ECF.
Alkalosis is caused by shift of H+ into cells to
maintain neutrality
59b
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What's the 1st test to do after

Hyponatremia ?

6a
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Check for plasma osmolality:-

Hypertonic > 290 Hyperglycemia, Mannitol
Rx by remove 'cause
Isotonic 290-275 Pseudohyponatremia (I.e.
hyperproteinemia,
hyperlipidemia) + Post-TURP
Hypotonic < 275 Urine osmolality if < 100
Primary polydypsia,Post-TURP if > 100 True
hyponatremia check ECF volume.
6b
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Etiology of Hypotonic Hyponatremia

according to ECF volume?

61a
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Hypervolemic Urinary Na < 10 Prerenal

HF,Cirrhosis,Nephrotic , Urinary Na > 20 Renal
Failure
Euvolemic Urinary Na > 20 SIADH , Cortisol
,Hypothyroidism.
Hypovolemic Urinary Na < 10 Renal losses (chronic
Diuretic use) ,Extra renal losses (GIT Diarrhea, vomiting,
sweating+ Burns, adenoma of rectum) , Urinary Na > 20
(cerebral salt wasting, recent diuretic use,
hypoaldosteronism)
61b
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Etiology of Hypernatremia ? (DDOH)

62a
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Dehydration
Diabetes insipidus
Osmotic diuresis ex. HONK
Hypertonic saline

62b
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Etiology of Hyperkalemia ?
(MACHINE )

63a
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M - Medications - ACE inhibitors, NSAIDS,K+

sparing,-Blockers
A - Acidosis - Metabolic and respiratory
C - Cellular destruction - Burns, traumatic
injury,tumer lysis
H - Hypoaldosteronism/ hemolysis
I - Intake - Excessive
N - Nephrons, renal failure
E - Excretion - Impaired
63b
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Clinical picture of Hyperkalemia ?

(MURDER )

64a
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M - Muscle weakness
U - UOP
R - Respiratory distress
D - Decreased cardiac contractility
E - ECG changes Tall-Tented T Waves small
P waves wide QRS sine wave asystole
R - Reflexes, hyperreflexia, or areflexia (flaccid)

64b
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Rx of Hyperkalemia ?

65a
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Stabilisation of the cardiac membrane

intravenous calcium gluconate
K+ shift from extracellular to intracellular
combined insulin/dextrose infusion
nebulised 2 agonist salbutamol
Removal of potassium from the body
calcium resonium (orally or enema)
loop diuretics
dialysis
65b
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Etiology of Hypokalemia with

alkalosis ?

66a
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Vomiting
Diuretics
Cushing's syndrome
Conn's syndrome (primary
hyperaldosteronism)
66b
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Etiology of Hypokalemia with

acidosis ?

67a
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Diarrhea
RTA
Acetazolamide
Partially treated DKA

67b
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ECG features of hypokalemia ?

68a
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U waves
Prolong PR interval
Long QT
Small or absent T waves
(occasionally inversion)
ST depression
68b
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Etiology of Hypomagnesemia ?

69a
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DIURETICS
Diarrhea
Hypokalemia, hypocalcemia
TPN
Alcohol
69b
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Clinical picture of Hypomagnesemia

?

7a
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Tetany & convulsions

Paraesthesia
Hypokalemia with ECG changes
Hypocalcemia dt PTH secretion
Exacerbates digoxin toxicity
Arrhythmias
7b
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Etiology of Hypophosphatemia ?

71a
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Refeeding syndrome
Primary hyperparathyroidism
Osteomalacia
DKA
Alcohol
Acute liver failure
71b
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Complications of Hypophosphatemia
?

72a
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hemolysis ,WBC and platelet

dysfunction
Muscle weakness and
rhabdomyolysis
CNS dysfunction
72b
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Vitamin D effect on Calcium &

phosphate Metabolism ?

73a
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plasma calcium and plasma

phosphate dt renal tubular
absorption and gut absorption of
calcium and renal phosphate
reabsorption
73b
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hormones control calcium

metabolism ?

74a
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PRIMARY CONTROL:-
parathyroid hormone (PTH)
vitamin D
OTHERS:-
Calcitonin
Thyroxine
Growth hormone
74b
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Actions of parathyroid hormone ?

75a
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plasma calcium, plasma phosphate

plasma calcium dt
renal reabsorption of calcium
osteoclastic activity
renal production of 1,25 dihydroxy
vitamin D
plasma phosphate dt renal
reabsorption
75b
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Actions of vitamin D ?

76a
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plasma calcium, plasma

phosphate
plasma calcium dt
renal reabsorption of calcium
osteoclastic activity
plasma phosphate dt renal
reabsorption
76b
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Corrected Ca+ = ?

77a
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serum Ca level (mmol/l) + [40 -

S.Albumin (g/dl)] x 0.027

77b
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Etiology of Hypocalcemia ?

78a
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Vitamin D deficiency (osteomalacia) Ca++ & Mg ++

Hypoparathyroidism (e.g. Post thyroid/parathyroid
surgery)
Pseudohypoparathyroidism (target cells insensitive to
PTH)
Chronic renal failure
Magnesium deficiency (due to end organ PTH resistance)
Rhabdomyolysis (initial stages)
Acute Pancreatitis

78b
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Why Cisplatin ( Rx of non-small cell

lung cancer) usually associated with
Hypocalcemia ?

79a
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Cisplatin is a well known cause of

magnesium deficiency. Without first
correcting magnesium levels it is
difficult to reverse hypocalcemia

79b
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Clinical picture of Hypocalcemia ?

8a
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extracellular calcium is important for muscle and

nerve function hypocalcemia neuromuscular
excitability.
Tetany: muscle twitching and spasm
ECG: prolonged QT interval
Perioral paraesthesia
If chronic: depression, cataracts
Trousseau's sign Carpal spasm dt BP cuff
Chvostek's sign Tapping over parotid facial
muscles twitches
8b
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Rx of Hypocalcemia ?

81a
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IV calcium gluconate, 10ml of 10%

solution over 10 minutes (IV calcium
chloride) local irritation
ECG monitoring
Rx of the cause
81b
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Most common causes of

Hypercalcemia ?

82a
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primary hyperparathyroidism (
MCC of silent hypercalcemia)
malignancy (bone metastases,
myeloma, PTHrP from
squamous cell lung cancer) ( MCC of
symptomatic Hypercalcemia
hospitalization).
82b
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DD between monoclonal
gammopathy of uncertain
significance (MGUS) and myeloma ?

83a
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absence of complications such as

immune paresis, hypercalcemia and
bone pain.

83b
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Etiology of Hypercalcemia ?
(VITAMINS TRAP)

84a
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V - Vitamins A & D
I - Immobilization
T - Thyrotoxicosis
A - Addison's disease
M - Milk-alkali syndrome
I - Inflammatory disorders
N - Neoplastic diseases
S - Sarcoidosis
T - Thiazides and other drugs
R - Rhabdomyolysis
A - AIDS
P - Paget's disease, Parenteral nutrition, Parathyroid disease.
84b
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Rx of Hypercalcemia ?

85a
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hypercalcemic crises:-
IV fluids normal saline (usu. 3-4 litres/day).
bisphosphonates.
furosemide has a limited role in hypercalcemia.
esp. patients who
cannot tolerate aggressive fluid rehydration
Calcitonin - quicker effect than bisphosphonates
Steroids in sarcoidosis
Bisphosphonates are the drugs of choice for mild to
moderate hypercalcemia related to malignancy.
85b
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Conditions associated with

Hyperuricemia ?

86a
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hyperlipidemia and hypertension &

metabolic syndrome

86b
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Etiology of Hyperuricemia dt
Synthesis ?

87a
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Lesch-Nyhan disease
Myeloproliferative
disorders Cytotoxics tumer lysis
syndrome
Diet rich in purines
Exercise
Psoriasis
87b
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Etiology of Hyperuricemia dt
Excretion ?

88a
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Renal failure
Drugs: low-dose aspirin, diuretics,
pyrazinamide
Pre-eclampsia
Alcohol
Lead
88b
Basic Science
Badrawy Notes For MRCP

Acute Phase Proteins that during

inflammation ?

89a
Basic Science
Badrawy Notes For MRCP

CRP
Ferritin
Caeruloplasmin
Complement
Haptoglobin
Fibrinogen
-1 antitrypsin
Serum amyloid A & P
89b
Basic Science
Badrawy Notes For MRCP

Acute Phase Proteins that during

inflammation ?

9a
Basic Science
Badrawy Notes For MRCP

albumin
prealbumin
transferrin
retinol binding protein
cortisol binding protein
9b
Basic Science
Badrawy Notes For MRCP

Other name of Nitric Oxide ?

91a
Basic Science
Badrawy Notes For MRCP

endothelium derived relaxation

factor
It is formed from L-arginine and
oxygen by nitric oxide synthetase
(NOS).
91b
Basic Science
Badrawy Notes For MRCP

Mechanism of Nitric Oxide ?

92a
Basic Science
Badrawy Notes For MRCP

Vasodilation, mainly venodilation

Inhibits platelet aggregation
dt Action on guanylate cyclase
intracellular cGMP Ca++ levels.

92b
Basic Science
Badrawy Notes For MRCP

Clinical relevance of Nitric Oxide ?

93a
Basic Science
Badrawy Notes For MRCP

NO hypertrophic pyloric stenosis

NO promote atherosclerosis
In sepsis levels of NO contribute to septic
shock
Organic nitrates (metabolism produces NO) Rx
CVS disease (e.g. Angina, heart failure)
Sildenafil potentiate the action of NO on
penile smooth muscle Rx erectile dysfunctions
93b
Basic Science
Badrawy Notes For MRCP

Mechanism of Atrial Natriuretic

Peptide (ANP) ?

94a
Basic Science
Badrawy Notes For MRCP

secreted by heart muscle cells

.right atrium and ventricle in
response to blood volume +
cGMP

94b
Basic Science
Badrawy Notes For MRCP

Effects of Atrial Natriuretic Peptide

(ANP) ?

95a
Basic Science
Badrawy Notes For MRCP

water, sodium and adipose

loads on the circulatory system,
Antagonises actions of angiotensin
II, aldosterone BP

95b
Basic Science
Badrawy Notes For MRCP

Clinical uses of B-type Natriuretic

Peptide (BNP) ?

96a
Basic Science
Badrawy Notes For MRCP

hormone produced mainly by the left

ventricular myocardium in response to strain.
Diagnosing patients with acute dyspnea BNP
r/o heart failure
Prognosis in patients with chronic heart failure
Guiding treatment in patients with chronic
heart failure
Screening for cardiac dysfunction (weak
evidence)
96b
Basic Science
Badrawy Notes For MRCP

Etiology of BNP ?

97a
Basic Science
Badrawy Notes For MRCP

heart failure
LV dysfunction dt myocardial
ischemia or valvular disease
Renal failure

97b
Basic Science
Badrawy Notes For MRCP

Etiology of BNP ?

98a
Basic Science
Badrawy Notes For MRCP

ACE I
ARBs
diuretics.

98b
Basic Science
Badrawy Notes For MRCP

Mechanism of Endothelin I action ?

99a
Basic Science
Badrawy Notes For MRCP

secreted as a PROHORMONE by the

vascular endothelium converted to
ET-1 by endothelin converting
enzyme. calcium release potent,
long-acting vasoconstrictor and
bronchoconstrictor
99b
Basic Science
Badrawy Notes For MRCP

Factors Promote the release of

Endothelin I ?

1 a
Basic Science
Badrawy Notes For MRCP

Angiotensin II
ADH
Hypoxia
Mechanical shearing forces

1 b
Basic Science
Badrawy Notes For MRCP

Factors inhibit the release of

Endothelin I ?

1 1a
Basic Science
Badrawy Notes For MRCP

Nitric oxide
Prostacyclin

1 1b
Basic Science
Badrawy Notes For MRCP

Endothelin I Raised levels in ?

1 2a
Basic Science
Badrawy Notes For MRCP

MI
Heart failure
ARF
Asthma
Primary pulmonary hypertension

1 2b
Basic Science
Badrawy Notes For MRCP

TNF is secreted mainly by ?

1 3a
Basic Science
Badrawy Notes For MRCP

macrophages.
key mediator of body response to
gram NEGATIVE septicemia and it is
a costimulator of T cell.

1 3b
Basic Science
Badrawy Notes For MRCP

Definition of Interferons (IFN) ?

1 4a
Basic Science
Badrawy Notes For MRCP

CYTOKINES released by the body

in response to viral infections and
neoplasia.
IFN- and IFN- bind to type-1
receptors,
IFN-gamma binds only to type-2
receptors.
1 4b
Basic Science
Badrawy Notes For MRCP

Functions of IFN- (a"L"pha) ?

1 5a
Basic Science
Badrawy Notes For MRCP

Produced by "L"eucocytes
Antiviral action hepatitis B & C,
kaposi's sarcoma, metastatic renal
cell cancer, hairy cell leukemia
f"L"u-Like symptoms and
depression
1 5b
Basic Science
Badrawy Notes For MRCP

Functions of IFN-"" ?

1 6a
Basic Science
Badrawy Notes For MRCP

Produced by fibro"B"lasts
Antiviral action frequency of
exacerbations in patients with
relapsing-remitting MS

1 6b
Basic Science
Badrawy Notes For MRCP

Functions of IFN-gamma ?

1 7a
Basic Science
Badrawy Notes For MRCP

Produced by T lymphocytes & NK cells

weaker antiviral action (inhibit viral
duplication), > in immunomodulation
esp. macrophage activation
Chronic granulomatous disease and
osteopetrosis
1 7b
Basic Science
Badrawy Notes For MRCP

Definition of Leukotrienes ?

1 8a
Basic Science
Badrawy Notes For MRCP

FATTY MOLECULES (arachidonic

acid derivatives) of the immune
system contribute to inflammation
in asthma and bronchitis.

1 8b
Basic Science
Badrawy Notes For MRCP

Functions of Leukotrienes ?

1 9a
Basic Science
Badrawy Notes For MRCP

Mediators of inflammation and allergy

Cause bronchoconstriction, mucous production
vascular permeability, attract leukocytes
Leukotriene D4 has been identified as the SRS-A
(slow reacting substance of anaphylaxis)
NSAID induced bronchospasm in asthmatics is
dt production of leukotrienes dt the inhibition of
PG synthetase
1 9b
Basic Science
Badrawy Notes For MRCP

Definition of Interleukin 1 (IL-1) ?

11 a
Basic Science
Badrawy Notes For MRCP

key mediator of the immune

response.
secreted by macrophages and
monocytes
Action costimulator of T cell and
B cell proliferation
11 b
Basic Science
Badrawy Notes For MRCP

Functions of Interleukin 1 (IL-1) ?

111a
Basic Science
Badrawy Notes For MRCP

expression of ADHESION MOLECULES

on the endothelium
VASODILATION and vascular
permeability dt (+) release vasoactive factors
such as PAF, nitric oxide and prostacyclin
a mediator of shock in sepsis
acts on the hypothalamus causing
PYREXIA IL-6 and TNF
111b
Basic Science
Badrawy Notes For MRCP

Functions of T-Helper Cells 1 ?

112a
Basic Science
Badrawy Notes For MRCP

Cell mediated response and

delayed (type IV) hypersensitivity
Secrete IFN-gamma, IL-2, IL-3

112b
Basic Science
Badrawy Notes For MRCP

Functions of T-Helper Cells 2 ?

113a
Basic Science
Badrawy Notes For MRCP

mediating humoral (antibody)

immunity (+) IgE production in
asthma
Secrete IL-4, IL-5, IL-6, IL-10, IL-
13
113b
Basic Science
Badrawy Notes For MRCP

first Cardiac marker to rise in MI ?

114a
Basic Science
Badrawy Notes For MRCP

Myoglobin (rise in 1-2 h,Peak 6-8

h,Back to normal 1-2 d)

114b
Basic Science
Badrawy Notes For MRCP

Cardiac marker useful to look for

reinfarction ?

115a
Basic Science
Badrawy Notes For MRCP

CK-MB (rise in 2-6 h,Peak 16-20

h,Back to normal 2-3 d)
as it returns to normal after 2-3 days
(troponin T remains elevated for up
to 10 days)
115b
Basic Science
Badrawy Notes For MRCP

Most useful Cardiac marker for MI ?

116a
Basic Science
Badrawy Notes For MRCP

TROPONIN (rise in 4-6 h,Peak12-24

h,Back to normal 7-10 d)

116b
Basic Science
Badrawy Notes For MRCP

Causes of alkaline phosphatase

(ALP) ?

117a
Basic Science
Badrawy Notes For MRCP

PAGET'S DISEASE 1,2 & 3 Ca

Bone metastases
Hyperparathyroidism
Osteomalacia 4 & 5 Ca
Renal failure
Liver: cholestasis, hepatitis, fatty liver, neoplasia
Physiological: pregnancy, growing children,
healing fractures
117b
Basic Science
Badrawy Notes For MRCP

Definition of ESR ?

118a
Basic Science
Badrawy Notes For MRCP

non-specific marker of inflammation

and depends on both the size, shape
and number of RBCs & the
concentration of plasma proteins
such as fibrinogen, 2-globulins and
gamma globulins
118b
Basic Science
Badrawy Notes For MRCP

Etiology of ESR ?

119a
Basic Science
Badrawy Notes For MRCP

Temporal arteritis
Multiple Myeloma
CT Diseases
Malignancies
Infection
Others anemia,Elderly,
119b
Basic Science
Badrawy Notes For MRCP

Etiology of ESR ?

12 a
Basic Science
Badrawy Notes For MRCP

Polycythemia
Afibrinogenemia/hypofibrinogenemia

12 b
Basic Science
Badrawy Notes For MRCP

Etiology of Leukocyte alkaline

phosphatase ?

121a
Basic Science
Badrawy Notes For MRCP

Myelofibrosis
Leukemoid reactions
PRV
Infections
Corticosteroids, Cushing's
syndrome
Pregnancy, oral contraceptive pill
121b
Basic Science
Badrawy Notes For MRCP

Etiology of Leukocyte alkaline

phosphatase ?

122a
Basic Science
Badrawy Notes For MRCP

CML
IMN (EBV)
PNH
Pernicious anemia

122b
Basic Science
Badrawy Notes For MRCP

Definition of Gene ? = PROTEIN

123a
Basic Science
Badrawy Notes For MRCP

a region of DNA that encodes protein.

123b
Basic Science
Badrawy Notes For MRCP

Definition of Genome ?= Group gene

124a
Basic Science
Badrawy Notes For MRCP

Group gene intervening DNA

sequence

124b
Basic Science
Badrawy Notes For MRCP

Definition of Locus ? = SITE

125a
Basic Science
Badrawy Notes For MRCP

site of gene on a chromosome

125b
Basic Science
Badrawy Notes For MRCP

Definition of Chromosome ?

126a
Basic Science
Badrawy Notes For MRCP

Self-replicating genetic structure

nucleotide sequence

126b
Basic Science
Badrawy Notes For MRCP

Definition of Alleles ?

127a
Basic Science
Badrawy Notes For MRCP

Alternative form of a gene found

at the same locus on a chromosome ;
a single allele for each locus is
inherited separately from each
parent.
127b
Basic Science
Badrawy Notes For MRCP

Definition of Haploid ?

128a
Basic Science
Badrawy Notes For MRCP

a single set of chromosomes (half the

full set of genetic material), present
in the gamete (egg or sperm) = (23).

128b
Basic Science
Badrawy Notes For MRCP

Definition of Codon ?

129a
Basic Science
Badrawy Notes For MRCP

sequence of AMINO ACID

129b
Basic Science
Badrawy Notes For MRCP

Definition of Karyotype ?

13 a
Basic Science
Badrawy Notes For MRCP

number and appearance of

chromosomes in the nucleus, in
human there are 44 autosome + 2 sex
chromosomes

13 b
Basic Science
Badrawy Notes For MRCP

Definition of Autosome ?

131a
Basic Science
Badrawy Notes For MRCP

any chromosome other than sex

chromosome (22 pairs)

131b
Basic Science
Badrawy Notes For MRCP

Etiology of Autosomal Recessive

Conditions ?

132a
Basic Science
Badrawy Notes For MRCP

Autosomal RECESSIVE conditions

are 'METABOLIC' except inherited
ataxias.

132b
Basic Science
Badrawy Notes For MRCP

Etiology of Autosomal Dominant

Conditions ?

133a
Basic Science
Badrawy Notes For MRCP

Autosomal DOMINANT conditions

are 'STRUCTURAL' except
hyperlipidemia type II, hypokalaemic
periodic paralysis

133b
Basic Science
Badrawy Notes For MRCP

General Criteria of Autosomal

Recessive Conditions ?

134a
Basic Science
Badrawy Notes For MRCP

Autosomal recessive are more life-

threatening compared to autosomal
dominant condition
=
Only homozygotes are affected
Does not manifest in every generation
- may 'skip a generation'
134b
Basic Science
Badrawy Notes For MRCP

If two heterozygote parents (Carrier

Parents),what's the propability in the
children ? (review the pic page 31)

135a
Basic Science
Badrawy Notes For MRCP

25% chance of having an affected (homozygote) child (get the

diseased gene from each parent)
50% chance of having a carrier (heterozygote) child (get 1
diseased gene from 1 parent & 1 normal gene from the other)
25% chance of having an unaffected (i.e. Genotypical) child
(get the normal gene from each parent)

135b
Basic Science
Badrawy Notes For MRCP

If one affected parent (i.e.

homozygote for gene) and one
unaffected (i.e. not a carrier or
affected),what's the propability in the
children ?(review the pic page 31)
136a
Basic Science
Badrawy Notes For MRCP

All the children will be carriers

136b
Basic Science
Badrawy Notes For MRCP

Specific Clues to Autosomal

Dominant or recessive ?

137a
Basic Science
Badrawy Notes For MRCP

most of Cs and Gs are recessive. C - G - re

ALL the Hs are Dominant except
Hemochromatosis & Homocystinuria are recessive
Vs are dominant, Ms are dominant except Maple
Syrup Urine & Mucopolysaccharidoses Hurler's ( as
Hunter's X-linked recessive)
regarding inherited hematology conditions :
Sickle cell Anemia & Thalassemias are Autosomal
Recessive while Spherocytosis is Autosomal
Dominant
137b
Basic Science
Badrawy Notes For MRCP

Other mnemonic for Autosomal

Dominant Conditions ?

138a
Basic Science
Badrawy Notes For MRCP

Dominant Job Hunting

D= Dystrophicas Myotonic.
O= Ostogenesis Imperfecta. Type 1 collagen defect.
M= Marfans syndrome.
I= Intermittent Porphyria.
N= Noonans Symdrome.
A= Adult Polycystic Kidney,Achondroplasia.
N= Neurofibromatosis.
T= Tuberous sclerosis.
Job's disease and Huntington's
138b
Basic Science
Badrawy Notes For MRCP

General Criteria of Autosomal

Dominant Conditions ?

139a
Basic Science
Badrawy Notes For MRCP

Both homozygotes and heterozygotes manifest

disease (THERE IS NO CARRIER STATE)
Only affected individuals can pass on disease
Disease is passed on to 50% of children
Normally appears in every generation (although
see below)
Risk remains same for each successive
pregnancy
139b
Basic Science
Badrawy Notes For MRCP

General Criteria of X-linked

Recessive Conditions ?

14 a
Basic Science
Badrawy Notes For MRCP

only s are affected .(an exception

is Turner's syndrome affected dt only
having one X-chromosome).
NO -to- transmission.
Affected s have unaffected sons and
carrier daughters.
14 b
Basic Science
Badrawy Notes For MRCP

Father is affected and mother is

carrier of X-linked Recessive
Conditions ?

141a
Basic Science
Badrawy Notes For MRCP

all kids have 50% chance of being affected.

s will be affected if they got the diseased X
from the mother + Y 50 % affection
s will be affected if they got the diseased X
from the mother +the diseased X from the father.
if s have the diseased X from the father +
Normal X from the mother they'll be carrier
only.
141b
Basic Science
Badrawy Notes For MRCP

X-linked recessive conditions ?

142a
Basic Science
Badrawy Notes For MRCP

Kallman Syndrome
Fabry's disease
Hunter's disease
Becker muscular dystrophy
G6PD deficiency
Lesch-Nyhan syndrome
Androgen insensitivity syndrome
Duchenne muscular dystrophy
Hemophilia A,B
(Color blindness,Retinitis pigmentosa,Ocular albinism)
+ Wiskott-Aldrich syndrome + Nephrogenic diabetes insipidus
142b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Wiskott-Aldrich

syndrome ?

143a
Basic Science
Badrawy Notes For MRCP

X-linked recessive Combined B+T

primary immunodeficiency dt mutation
in the WASP gene recurrent bacterial
infection chest, eczema and
THROMBOCYTOPENIA with low IgG.
TIE =Thrombocytopenia,
immunodeficiency,eczema.
143b
Basic Science
Badrawy Notes For MRCP

Diseases have varying patterns of

inheritance with the majority being
X-linked recessive ?

144a
Basic Science
Badrawy Notes For MRCP

Chronic granulomatous disease (in >

70%)
(Primary
Immunodeficiency,Neutrophil
disorder)
144b
Basic Science
Badrawy Notes For MRCP

General Criteria of X-linked

Dominant Conditions ?

145a
Basic Science
Badrawy Notes For MRCP

If a child has inherited the mutation from the X

chromosome of one of their parents they will have the
condition.
NO carrier state
A woman with an X-linked dominant disorder has
a 50% chance of having an affected daughter or son
with each pregnancy.
The sons of a man with an X-linked dominant
disorder will not be affected but his daughters will all
inherit the condition.
145b
Basic Science
Badrawy Notes For MRCP

X-linked Dominant conditions ?

146a
Basic Science
Badrawy Notes For MRCP

Vit D resistant Rickets

Rett syndrome
Alport syndrome (85% XLD)

146b
Basic Science
Badrawy Notes For MRCP

Definition of anticipation ?

147a
Basic Science
Badrawy Notes For MRCP

earlier onset of genetic disease in

successive generations.
In most cases also in the severity of
symptoms is also noted.

147b
Basic Science
Badrawy Notes For MRCP

Definition of Trinucleotide Repeat

Disorders ?

148a
Basic Science
Badrawy Notes For MRCP

genetic conditions caused by an

abnormal number of repeats
(expansions) of a repetitive sequence of
three nucleotides
These expansions are unstable and may
enlarge earlier age of onset of disease
in successive generations.(anticipation)
148b
Basic Science
Badrawy Notes For MRCP

Examples of Trinucleotide Repeat

Disorders (anticipation)?

149a
Basic Science
Badrawy Notes For MRCP

Fragile X (CGG) FHM=GAT (C...G)

Huntington's (CAG)
Myotonic dystrophy (CTG)
Friedreich's ataxia (GAA) no anticipation
Spinocerebellar ataxia
Spinobulbar muscular atrophy
Bulbospinal Neuropathy
Dentatorubral pallidoluysian atrophy
149b
Basic Science
Badrawy Notes For MRCP

Which one of the following

intracellular organelles is associated with
the metabolism of oligopeptides?
A Golgi apparatus
B Lysosomes
C Peroxisomes
D Ribosomes
E Smooth endoplasmic reticulum
15 a
Basic Science
Badrawy Notes For MRCP

Lysosomes

15 b
Basic Science
Badrawy Notes For MRCP

Criteria of Mitochondrial Disease

inheritance ?

151a
Basic Science
Badrawy Notes For MRCP

rare neurological diseases (ex. Leber's OA

,MELAS .MERRF ,Pearson syndrome)
Inheritance is only via the maternal line as the
sperm contributes no cytoplasm to the zygote
All children of affected s will not inherit the
disease
All children of affected s will inherit it

151b
Basic Science
Badrawy Notes For MRCP

Dx of Mitochondrial Diseases ?

152a
Basic Science
Badrawy Notes For MRCP

Muscle biopsy classically shows 'red,

ragged fibres' due to number of
mitochondria

152b
Basic Science
Badrawy Notes For MRCP

Definition of Tumour Suppressor

Genes ?

153a
Basic Science
Badrawy Notes For MRCP

Genes which normally control the cell

cycle
Exhibit a recessive effect - both copies
must be mutated before cancer
occurs
153b
Basic Science
Badrawy Notes For MRCP

Examples of Tumour Suppressor

Genes ?

154a
Basic Science
Badrawy Notes For MRCP

P53
APC: colorectal cancer
NF-1: neurofibromatosis
RB: retinoblastoma

154b
Basic Science
Badrawy Notes For MRCP

Definition of Proto-Oncogenes ?

155a
Basic Science
Badrawy Notes For MRCP

A normal gene which, when altered by mutation ACTIVE

FORM of proto-oncogene-->leads to cancers

RETired MEN RAShed MY ER ToGo ABout with my SIS

RET MEN
ras
N-myc
ERB-B1/B2
TGF-alpha
SIS gene[osteosarcoma+astrocytoma]
abl[anti-apoptosis gene]
155b
Basic Science
Badrawy Notes For MRCP

Significance of P53 Gene ?

156a
Basic Science
Badrawy Notes For MRCP

tumour suppressor gene located on chromosome 17p. It is

the most commonly mutated gene in BREAST, COLON AND
LUNG CANCER
action on the cell cycle preventing entry into the S phase
until DNA has been checked and repaired. It may also be a key
regulator of apoptosis

156b
Basic Science
Badrawy Notes For MRCP

Li-Fraumeni Syndrome ?

157a
Basic Science
Badrawy Notes For MRCP

AD disease cancers (sarcomas,

breast cancer).dt mutation in the p53
gene.

157b
Basic Science
Badrawy Notes For MRCP

Etiology of Down Syndrome ?

158a
Basic Science
Badrawy Notes For MRCP

trisomy 21, a chromosomal disorder

dt the presence of all or
part of an extra 21 chromosome.

158b
Basic Science
Badrawy Notes For MRCP

Dx of Down syndrome in utero ?

159a
Basic Science
Badrawy Notes For MRCP

amniocentesis during pregnancy or in

a baby at birth.

159b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Down Syndrome ?

16 a
Basic Science
Badrawy Notes For MRCP

Face: epicanthic folds,protruding tongue, upslanting

palpebral fissures, Brushfield spots in iris,small ears
round/flat face
Single palmar crease, pronounced 'sandal gap' between
big and first toe
Flat occiput
Congenital heart defects (40-50%)
Duodenal atresia
Hirschsprung's disease
: subfertility dt problems with pregnancy and labour
: infertility impaired spermatogenesis
16 b
Basic Science
Badrawy Notes For MRCP

Cardiac complications of Down

Syndrome ?

161a
Basic Science
Badrawy Notes For MRCP

Endocardial cushion defect (40%, aka

AV septal canal defects)
Most common cardiac congenital anomaly
with Down syndrome
VSD (30%)
Secundum ASD (10%)
TOF (5%)
Isolated PDA (5%)
161b
Basic Science
Badrawy Notes For MRCP

Other complications of Down

Syndrome ?

162a
Basic Science
Badrawy Notes For MRCP

Learning difficulties
Short stature
Repeated respiratory infections
( hearing dt glue ear)
Acute lymphoblastic leukemia
Hypothyroidism
Alzheimer's
Atlantoaxial instability
162b
Basic Science
Badrawy Notes For MRCP

Risk of Down's syndrome with

increasing maternal age ?

163a
Basic Science
Badrawy Notes For MRCP

Risk at 30 years = 1/1000

35 years = 1/350
40 years = 1/100
45 years = 1/30
One way of remembering this is by starting
at 1/1,000 at 30 years and then dividing by
3 (i.e. 3 times more common) for every extra
5 years of age
163b
Basic Science
Badrawy Notes For MRCP

Etiology of Turner Syndrome ?

164a
Basic Science
Badrawy Notes For MRCP

dt either the presence of only one sex

chromosome (X) or a deletion of the short
arm of one of the X chromosomes. Turner's
syndrome is denoted as 45, XO or 45 X
incidence of autoimmune disease
(especially autoimmune thyroiditis) and
Crohn's disease
164b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Turner Syndrome ?

165a
Basic Science
Badrawy Notes For MRCP

BICUSPID AORTIC VALVE (15%)

COARCTATION OF THE AORTA (5-10%)
Short stature
Shield chest, widely spaced nipples
Webbed neck
Primary amenorrhoea
High-arched palate
Short fourth metacarpal
Multiple pigmented naevi
Lymphedema in neonates (especially feet)
165b
Basic Science
Badrawy Notes For MRCP

Etiology of Klinefelter Syndrome ?

166a
Basic Science
Badrawy Notes For MRCP

Hypergonadotropic hypogonadism
karyotype 47, XXY

166b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Klinefelter

Syndrome ?

167a
Basic Science
Badrawy Notes For MRCP

Elevated gonadotrophin levels LH

& FSH
Small, firm testes (hypogonadism)
Tall , Infertile
Lack of secondary sexual characteristics
Gynaecomastia incidence of breast
cancer
Mental retardation is not feature
167b
Basic Science
Badrawy Notes For MRCP

Dx of Klinefelter Syndrome ?

168a
Basic Science
Badrawy Notes For MRCP

by chromosomal analysis
(K)aryotyping = (K)linefelter

168b
Basic Science
Badrawy Notes For MRCP

Etiology of Kallman Syndrome ?

169a
Basic Science
Badrawy Notes For MRCP

hypogonadotrophic hypogonadism X-
linked recessive
Decreased gonadotrophin levels LH
& FSH
dt failure of GnRH-secreting neurons to
migrate to the hypothalamus
clue lack of smell ANOSMIA in a boy
with delayed puberty
169b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Kallman Syndrome

?

17 a
Basic Science
Badrawy Notes For MRCP

Anosmia
Delayed puberty
Hypogonadism, cryptorchidism (including
undescended tests)
Sex hormone levels are low
LH, FSH levels are inappropriately low/normal
Patients are typically of normal height
Cleft lip/palate and visual/hearing defects are
also seen in some patients
17 b
Basic Science
Badrawy Notes For MRCP

Etiology of Marfan Syndrome ?

171a
Basic Science
Badrawy Notes For MRCP

a defect in the fibrillin-1 gene on

chromosome 15
autosomal dominant CT disease
(fibrillin protein).

171b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Marfan Syndrome

?

172a
Basic Science
Badrawy Notes For MRCP

Tall stature with arm span > height ratio > 1.05
High-arched palate
Eyes: upwards lens dislocation (ectopia lentis), blue sclera
Arachnodactyly (spider fingers abnormally long & can
be bent backwards of 180 degrees)
Pectus excavatum
Scoliosis of > 20 degrees
Heart: dilation of the AORTIC SINUSES ( 90%) AR
MVP (75%), aortic dissection
Lungs: repeated pneumothoraces
Pes planus
172b
Basic Science
Badrawy Notes For MRCP

Etiology of Noonan Syndrome ?

173a
Basic Science
Badrawy Notes For MRCP

' Turner's' ,autosomal dominant

,normal karyotype.
dt a defect in a gene on chromosome
12.

173b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Noonan Syndrome

?

174a
Basic Science
Badrawy Notes For MRCP

Cardiac: pulmonary stenosis

Ptosis
shaped face
Low-set ears
Coagulation problems: factor XI deficiency
+ Turner's syndrome CP (webbed neck, widely-
spaced nipples, short stature, pectus carinatum
and excavatum)
174b
Basic Science
Badrawy Notes For MRCP

Etiology of Fragile X ?

175a
Basic Science
Badrawy Notes For MRCP

trinucleotide repeat disorder,

complex X-linked inheritance.

175b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Fragile X ?

176a
Basic Science
Badrawy Notes For MRCP

pt.
MVP,MR
LARGE low set ears, LONG thin face, HIGH arched palate
MACROorchidism (Large testes)
Hypotonia
Learning difficulties
AUTISM is more common
pt.
(one fragile chromosome and one normal X chromosome)
range from normal to mild
176b
Basic Science
Badrawy Notes For MRCP

Dx of Fragile X ?

177a
Basic Science
Badrawy Notes For MRCP

In utero chorionic villus

sampling or amniocentesis
Analysis of the number of CGG
repeats using restriction
endonuclease digestion and southern
blot analysis
177b
Basic Science
Badrawy Notes For MRCP

Etiology of Patau Syndrome ?

178a
Basic Science
Badrawy Notes For MRCP

trisomy 13 (extra chromosome 13) . death

within 1 year.
Like all non-disjunction conditions (Down
syndrome, Edwards syndrome, etc.), the risk
of this syndrome in the offspring with
maternal age at pregnancy, with about 31
years being the average.
178b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Patau Syndrome ?

= Petit = MICROCEPHALY

179a
Basic Science
Badrawy Notes For MRCP

MICROCePHALY
M mental retardation
I 13
C Cleft lip , Cleft palate
R Renal , Rocker bottom feet.
O Omphalocele
C Cardiac severe MR
P Polydactyly
H Holoprosencephaly (failure of the forebrain division)
A Abnormal genitalia
L Low set ears
Y eYe defects
179b
Basic Science
Badrawy Notes For MRCP

Etiology of Edwards Syndrome ?

18 a
Basic Science
Badrawy Notes For MRCP

dt the presence of all or part of an

extra 18th chromosome.
It is the second most common
autosomal trisomy, after Down's
Syndrome
18 b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Edwards

Syndrome ?

181a
Basic Science
Badrawy Notes For MRCP

MICRO EDWARDS
M mental retardation
I 18
C Cleft lip , Cleft palate ,Cardiac severe MR
R Renal
O Omphalocele
E Esophageal atresia
D Digit overlaping flexion
W Widely-spaced eyes
A Arthrogryposis (a muscle disorder that causes multiple joint contractures
at birth)
R Rocker bottom feet.
D Developmental delays,Difficulties Feeding,Breathing
S Small lower jaw
181b
Basic Science
Badrawy Notes For MRCP

Etiology of Prader-Willi Syndrome ?

182a
Basic Science
Badrawy Notes For MRCP

GENETIC IMPRINTING where the phenotype

depends on whether the deletion occurs on a gene
inherited from the mother or father:
Prader-Willi syndrome if gene deleted from father
Angelman syndrome if gene deleted from mother
Prader-Willi syndrome absence of the active Prader-
Willi gene on the long arm of chromosome 15
This may be due to:
Microdeletion of paternal 15q11-13 (70% of cases)
Maternal uniparental disomy of chromosome 15
182b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Prader Willi

Syndrome ?

183a
Basic Science
Badrawy Notes For MRCP

"SOM 'eats too much' Though He Has small hands ,

small feet & fish shaped mouth.
S= short stature
O= obese
M= mental retardation
'eats too much' = hyperphagia
T= tone decreased
HH= hypogonadotrophic hypogonadism
small hands & feet
fish shaped mouth.
183b
Basic Science
Badrawy Notes For MRCP

Clinical picture of vitamin A

Retinoids deficiency ?

184a
Basic Science
Badrawy Notes For MRCP

Night-blindness (nyctalopia)

184b
Basic Science
Badrawy Notes For MRCP

Clinical picture of vitamin B1

Thiamine deficiency ?

185a
Basic Science
Badrawy Notes For MRCP

Beriberi
Polyneuropathy, Wernicke-Korsakoff
syndrome
Heart failure

185b
Basic Science
Badrawy Notes For MRCP

Clinical picture of vitamin B3

Niacin (Nicotinic Acid) deficiency
? B3 = 3D

186a
Basic Science
Badrawy Notes For MRCP

Pellagra
Dermatitis (brown scaly rash on sunexposed sites -
termed Casal's necklace if around neck)
Diarrhea
Dementia + Depression
Death if not treated
may occur as a consequence of isoniazid therapy
(isoniazid inhibits the conversion of tryptophan to
niacin)
186b
Basic Science
Badrawy Notes For MRCP

Clinical picture of vitamin B6

Pyridoxine deficiency ?

187a
Basic Science
Badrawy Notes For MRCP

Anemia, irritability, seizures

187b
Basic Science
Badrawy Notes For MRCP

Clinical picture of vitamin B7

Biotin deficiency ?

188a
Basic Science
Badrawy Notes For MRCP

Dermatitis, seborrhoea

188b
Basic Science
Badrawy Notes For MRCP

Clinical picture of vitamin B9 Folic

acid deficiency ?

189a
Basic Science
Badrawy Notes For MRCP

Megaloblastic anemia , deficiency

during pregnancy - neural
tube defects

189b
Basic Science
Badrawy Notes For MRCP

Etiology of vitamin B12 deficiency ?

19 a
Basic Science
Badrawy Notes For MRCP

It is absorbed after binding to INTRINSIC

FACTOR (secreted from parietal cells in the stomach)
& actively absorbed in the TERMINAL ILEUM.
Pernicious anemia
Post gastrectomy
Poor diet
Terminal ileum disease (site of
absorption):Crohn's, blind-loop etc
Metformin
19 b
Basic Science
Badrawy Notes For MRCP

Clinical picture of vitamin B12

Cyanocobalamin deficiency ?

191a
Basic Science
Badrawy Notes For MRCP

Megaloblastic anemia
Sore tongue and mouth
Neurological symptoms: e.g. Ataxia
,Subacute combined degeneration of spinal
cord (SACD)
Neuropsychiatric symptoms: e.g. Mood
disturbances
191b
Basic Science
Badrawy Notes For MRCP

Rx of vitamin B12
Cyanocobalamin deficiency ?

192a
Basic Science
Badrawy Notes For MRCP

If no neurological involvement IM
Hydroxocobalamin
If a patient is also deficient in folic
acid then it is important to treat the
B12 deficiency first to avoid ppt SACD
192b
Basic Science
Badrawy Notes For MRCP

Clinical picture of vitamin C

Ascorbic acid deficiency ?

193a
Basic Science
Badrawy Notes For MRCP

Vitamin C defective synthesis of

collagen capillary fragility (bleeding
tendency) & poor wound healing
Scurvy
Gingivitis, loose teeth
Bleeding from gums, hematuria,
epistaxis
Poor wound healing
193b
Basic Science
Badrawy Notes For MRCP

Clinical picture of vitamin D

cholecalciferol deficiency ?

194a
Basic Science
Badrawy Notes For MRCP

Rickets, osteomalacia (good source is

cod liver oil)

194b
Basic Science
Badrawy Notes For MRCP

Etiology of Vitamin D-Resistant

Rickets ?

195a
Basic Science
Badrawy Notes For MRCP

X-linked dominant (like Rett and

Alport syndrome) presents in
infancy with FTT.dt impaired
phosphate reabsorption in the renal
tubules
195b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Vitamin D-

Resistant Rickets ?

196a
Basic Science
Badrawy Notes For MRCP

Failure to thrive
Normal serum calcium, low
phosphate,
alkaline phosphotase
X-ray changes: cupped metaphyses
with widening of the epiphyses
Dx urinary phosphate
196b
Basic Science
Badrawy Notes For MRCP

Rx of Vitamin D-Resistant Rickets ?

197a
Basic Science
Badrawy Notes For MRCP

High-dose vitamin D supplements

Oral phosphate supplements

197b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Vitamin E

Tocopherol deficiency ?

198a
Basic Science
Badrawy Notes For MRCP

Mild hemolytic anemia in newborn

infants, ataxia, peripheral
neuropathy

198b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Vitamin K

Naphthoquinone deficiency ?

199a
Basic Science
Badrawy Notes For MRCP

Hemorrhagic disease of the newborn,

bleeding diathesis

199b
Basic Science
Badrawy Notes For MRCP

Drugs which interfere with Folate

metabolism ?

2 a
Basic Science
Badrawy Notes For MRCP

Trimethoprim
Methotrexate
Pyrimethamine

Phenytoin can absorption

2 b
Basic Science
Badrawy Notes For MRCP

Iron Absorption ?

2 1a
Basic Science
Badrawy Notes For MRCP

Upper small intestine (only 10% of dietary iron

absorbed)
Fe++ (ferrous iron) absorbed than Fe+++
(ferric iron)
Absorption is regulated according to bodies need
by vitamin C, gastric acid
byPPI, tetracycline, gastric achlorhydria,
tannin (found in tea)
2 1b
Basic Science
Badrawy Notes For MRCP

Iron Distribution in body ?

2 2a
Basic Science
Badrawy Notes For MRCP

Total body iron = 4g

Hemoglobin = 70%
Ferritin and hemosiderin = 25%
Myoglobin = 4%
Plasma iron = 0.1%
Carried in plasma as Fe+++ bound to transferrin
Stored as ferritin in tissues
Lost via intestinal tract following desquamination

2 2b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Zinc Deficiency ?

2 3a
Basic Science
Badrawy Notes For MRCP

Short stature
Hypogonadism
Hepatosplenomegaly
Geophagia (ingesting clay/soil)
Perioral dermatitis: red, crusted lesions
Acrodermatitis
Alopecia
Cognitive impairment
2 3b
Basic Science
Badrawy Notes For MRCP

Function of Endoplasmic reticulum ?

2 4a
Basic Science
Badrawy Notes For MRCP

(rough endoplasmic reticulum)

Translation and folding of new
proteins
(smooth endoplasmic reticulum)
expression of lipids
2 4b
Basic Science
Badrawy Notes For MRCP

Function of Golgi apparatus ?

2 5a
Basic Science
Badrawy Notes For MRCP

SORTING and MODIFICATION of

proteins

2 5b
Basic Science
Badrawy Notes For MRCP

Function of Mitochondria ?

2 6a
Basic Science
Badrawy Notes For MRCP

Energy production. Contains

mitochondrial genome as circular
double stranded DNA

2 6b
Basic Science
Badrawy Notes For MRCP

Function of Nucleus ?

2 7a
Basic Science
Badrawy Notes For MRCP

DNA maintenance and RNA

transcription

2 7b
Basic Science
Badrawy Notes For MRCP

Function of Lysosome ?

2 8a
Basic Science
Badrawy Notes For MRCP

= LYSE Breakdown of large

molecules such as PROTEINS and
POLYSACCHARIDES

2 8b
Basic Science
Badrawy Notes For MRCP

Function of PROTEAsome ?

2 9a
Basic Science
Badrawy Notes For MRCP

large PROTEIN molecules

Breakdown (together with Lysosome)

2 9b
Basic Science
Badrawy Notes For MRCP

Function of Nucleolus ?

21 a
Basic Science
Badrawy Notes For MRCP

Ribosome production

21 b
Basic Science
Badrawy Notes For MRCP

Function of (R)ibosome ?

211a
Basic Science
Badrawy Notes For MRCP

(R)NA Translation into proteins

211b
Basic Science
Badrawy Notes For MRCP

Function of PEROxisome ?

212a
Basic Science
Badrawy Notes For MRCP

hydrogen PEROxide Breakdown

212b
Basic Science
Badrawy Notes For MRCP

G1 - Gap phase 1 - determines length

of cell cycle - under influence of ?

213a
Basic Science
Badrawy Notes For MRCP

p53

213b
Basic Science
Badrawy Notes For MRCP

Types of Membrane Receptors ?

214a
Basic Science
Badrawy Notes For MRCP

4 types :-
Ligand-gated ion channel
(fast responses) nicotinic acetylcholine,
GABA-A & GABA-C, glutamate receptors
Tyrosine kinase receptors
Contain intrinsic enzyme activity
Insulin, growth factors, interferon
Guanylate cyclase receptors
Atrial natriuretic factor (ANP), nitric oxide receptors
G protein-coupled receptors
(slow transmission,metabolic processes)
Muscarinic acetylcholine, adrenergic receptors, GABA-B
214b
Basic Science
Badrawy Notes For MRCP

Adrenoreceptor Agonist &

function ?

215a
Basic Science
Badrawy Notes For MRCP

(Agonist phenylephrine)
Vasoconstriction
Relaxation of GI smooth muscle
Salivary secretion
Hepatic glycogenolysis
215b
Basic Science
Badrawy Notes For MRCP

Adrenoreceptor Agonist &

function ?

216a
Basic Science
Badrawy Notes For MRCP

(Agonist clonidine)
Mainly presynaptic:(-) transmitter
release (NA, Ach from autonomic
nerves)
Inhibits insulin
Platelet aggregation
216b
Basic Science
Badrawy Notes For MRCP

Adrenoreceptor Agonist &

function ?

217a
Basic Science
Badrawy Notes For MRCP

(Agonist dobutamine)
Mainly located in the heart
heart rate + force

217b
Basic Science
Badrawy Notes For MRCP

Adrenoreceptor Agonist &

function ?

218a
Basic Science
Badrawy Notes For MRCP

(Agonist salbutamol)
Vasodilation
Bronchodilation
Relaxation of GI smooth muscle

218b
Basic Science
Badrawy Notes For MRCP

Adrenoreceptor Agonist &

function ?

219a
Basic Science
Badrawy Notes For MRCP

( Agonist being developed, may

have a role in preventing obesity)
Lipolysis

219b
Basic Science
Badrawy Notes For MRCP

General Criteria of Adrenoceptors ?

22 a
Basic Science
Badrawy Notes For MRCP

All are G-protein coupled

:(+) phospholipase C IP3 DAG
: (-) adenylate cyclase
: (+) adenylate cyclase
: (+) adenylate cyclase
: (+) adenylate cyclase
22 b
Basic Science
Badrawy Notes For MRCP

Function of Second Messengers ?

221a
Basic Science
Badrawy Notes For MRCP

amplification of external stimulus

221b
Basic Science
Badrawy Notes For MRCP

Types of Second Messengers ?

222a
Basic Science
Badrawy Notes For MRCP

Cyclic AMP
E.g. Adrenaline, noradrenaline, glucagon, LH, FSH,
TSH, calcitonin, parathyroid hormone
Protein kinase activity
E.g. Insulin, GH & factor, prolactin, oxytocin,
erythropoietin.
Calcium and/or phosphoinositides
E.g. ADH, GnRH, TRH
Cyclic GMP
E.g. ANP, nitric oxide
222b
Basic Science
Badrawy Notes For MRCP

Molecular biology techniques Snow

Drop ?

223a
Basic Science
Badrawy Notes For MRCP

(South - NOrth - West) (BLOTTING)

(DNA - RNA - Protein)

223b
Basic Science
Badrawy Notes For MRCP

Uses of Polymerase Chain Reaction

(PCR) ?

224a
Basic Science
Badrawy Notes For MRCP

Prenatal diagnosis.
Detection of mutated oncogenes
Dx of infections.
Forensics.
only one strand of sample DNA is needed to detect
a particular
DNA sequence.
Prior to the procedure it is necessary to have two
DNA oligonucleotide primers
224b
Basic Science
Badrawy Notes For MRCP

Uses of Reverse transcriptase PCR ?

225a
Basic Science
Badrawy Notes For MRCP

Used to amplify RNA

RNA is converted to DNA by
reverse transcriptase
Gene expression in the form of
mRNA (rather than the actually DNA
sequence) can therefore be analyzed
225b
Basic Science
Badrawy Notes For MRCP

Strucures passing through Optic

canal ?

226a
Basic Science
Badrawy Notes For MRCP

Ophthalmic A.
Optic nerve (II)

226b
Basic Science
Badrawy Notes For MRCP

Strucures passing through Superior

orbital fissure ?

227a
Basic Science
Badrawy Notes For MRCP

Superior ophthalmic V.
Inferior ophthalmic V.
Oculomotor nerve (III)
Trochlear nerve (IV)
Abducent nerve (VI)
lacrimal, frontal and nasociliary branches
of ophthalmic nerve (V1)
227b
Basic Science
Badrawy Notes For MRCP

Strucures passing through Inferior

orbital fissure ?

228a
Basic Science
Badrawy Notes For MRCP

Inferior ophthalmic V.
Infraorbital artery
Infraorbital vein Zygomatic nerve and
infraorbital nerve of
maxillary nerve (V2)
Orbital branches of pterygopalatine
ganglion
228b
Basic Science
Badrawy Notes For MRCP

Strucures passing through Foramen

Rotundum ?

229a
Basic Science
Badrawy Notes For MRCP

Maxillary nerve (V2)

229b
Basic Science
Badrawy Notes For MRCP

Strucures passing through Foramen

Ovale ?

23 a
Basic Science
Badrawy Notes For MRCP

Accessory meningeal A.
Mandibular nerve (V3)

23 b
Basic Science
Badrawy Notes For MRCP

Strucures passing through Jugular

Foramen ?

231a
Basic Science
Badrawy Notes For MRCP

Posterior meningeal A.
Ascending pharyngeal A.
Inferior petrosal sinus
Sigmoid sinus
Internal jugular V.
Glossopharyngeal nerve (IX)
Vagus nerve (X)
Accessory nerve (XI)
231b
Basic Science
Badrawy Notes For MRCP

anatomical relations of the Rt

kidneys ?

232a
Basic Science
Badrawy Notes For MRCP

Direct contact
Right suprarenal gland
Duodenum
Colon
Layer of peritoneum in-between
Liver
Distal part of small intestine
232b
Basic Science
Badrawy Notes For MRCP

anatomical relations of the Lt kidneys

?

233a
Basic Science
Badrawy Notes For MRCP

Direct contact
Left suprarenal gland
Pancreas
Colon
Layer of peritoneum in-between
Stomach
Spleen
Distal part of small intestine
233b
Basic Science
Badrawy Notes For MRCP

five layers of the Epidermis ?

234a
Basic Science
Badrawy Notes For MRCP

Stratum Corneum
Stratum Lucidum
Stratum Granulosum
Stratum Spinosum Squamous
cells,Thickest layer of epidermis
Stratum Germinativum Gives rise to
keratinocytes,Contains melanocytes
234b
Basic Science
Badrawy Notes For MRCP

Phase 0 Myocardial Action Potential

?

235a
Basic Science
Badrawy Notes For MRCP

Rapid depolarisation dt Rapid

sodium influx
These channels automatically
deactivate after a few ms

235b
Basic Science
Badrawy Notes For MRCP

Phase 1 Myocardial Action Potential ?

236a
Basic Science
Badrawy Notes For MRCP

Early repolarisation dt Efflux of

potassium

236b
Basic Science
Badrawy Notes For MRCP

Phase 2 Myocardial Action Potential ?

237a
Basic Science
Badrawy Notes For MRCP

Plateau dt Slow influx of calcium

237b
Basic Science
Badrawy Notes For MRCP

Phase 3 Myocardial Action Potential ?

238a
Basic Science
Badrawy Notes For MRCP

Final repolarisation dt Efflux of

potassium

238b
Basic Science
Badrawy Notes For MRCP

Phase 4 Myocardial Action Potential ?

239a
Basic Science
Badrawy Notes For MRCP

Restoration of ionic concentrations dt

Na+/K+ ATPase mediated slow entry
of Na+ into the cell the potential
difference until the threshold
potential is reached, triggering a new
action potential
239b
Basic Science
Badrawy Notes For MRCP

Atrial Conduction velocity ?

24 a
Basic Science
Badrawy Notes For MRCP

1 m/sec

24 b
Basic Science
Badrawy Notes For MRCP

AV node Conduction velocity ?

241a
Basic Science
Badrawy Notes For MRCP

0.05 m/sec

241b
Basic Science
Badrawy Notes For MRCP

Ventricular Conduction velocity ?

242a
Basic Science
Badrawy Notes For MRCP

Purkinje fibres are of large diameter

and achieve velocities of 2-4 m/sec
(this allows a rapid and coordinated
contraction of the ventricles)

242b
Basic Science
Badrawy Notes For MRCP

Mechanism of action of Antidiuretic

hormone ?

243a
Basic Science
Badrawy Notes For MRCP

ADH is secreted from the posterior

pituitary water reabsorption in the
collecting ducts dt insertion of
AQUAPORIN-2 CHANNELS

243b
Basic Science
Badrawy Notes For MRCP

The adrenal medulla resembles what

?

244a
Basic Science
Badrawy Notes For MRCP

a specialised sympathetic ganglion

secretes adrenaline + small amounts
of noradrenaline

244b
Basic Science
Badrawy Notes For MRCP

Wegner's causes glomerulonephritis

by crescent formation. Distinguished
from other types by ?

245a
Basic Science
Badrawy Notes For MRCP

absence of immune deposits on

immune -histochemical analysis.

245b
Basic Science
Badrawy Notes For MRCP

Most reliable features of D.M-1

presentation ?

246a
Basic Science
Badrawy Notes For MRCP

weight loss

246b
Basic Science
Badrawy Notes For MRCP

rate limiting enzyme in glycolysis and

gluconeogenesis ?

247a
Basic Science
Badrawy Notes For MRCP

Pyruvate kinase
Its deficiency results in hereditary
hemolytic anemia.

247b
Basic Science
Badrawy Notes For MRCP

Pyramidal Tract lesion (UMN lesion)

in the upper & lower limbs ?

248a
Basic Science
Badrawy Notes For MRCP

affects extensors in U- limbs and

flexors in lower limbs (knee flexion).

248b
Basic Science
Badrawy Notes For MRCP

Lipid Profile in Diabetics ?

249a
Basic Science
Badrawy Notes For MRCP

Increased TG, Decreased HDL,

Normal LDL.

249b
Basic Science
Badrawy Notes For MRCP

Sensation of Fecal control ?

25 a
Basic Science
Badrawy Notes For MRCP

Involuntary Fecal control is by

internal anal sphincter and voluntary
by external ones.
Ultrasound used to study structure of
sphincter. Rectal prolapse may cause
(Fecal incontinence).
25 b
Basic Science
Badrawy Notes For MRCP

Hb- Electrophoresis of sickle patients

show ?

251a
Basic Science
Badrawy Notes For MRCP

No Hb-A, 2-20 % Hb-F, 80-96% Hb-

S.

251b
Basic Science
Badrawy Notes For MRCP

Isotope suppression (Decreased other

immune globulins) and light chains
in urine only seen in ?

252a
Basic Science
Badrawy Notes For MRCP

Myeloma.

252b
Basic Science
Badrawy Notes For MRCP

Most early biochemical change to

occurs in primary Hypothyroidism ?

253a
Basic Science
Badrawy Notes For MRCP

Increased TSH.

253b
Basic Science
Badrawy Notes For MRCP

Immunity against bacteria is mainly

provided by ?

254a
Basic Science
Badrawy Notes For MRCP

Beta - cells (Humoral immunity)

254b
Basic Science
Badrawy Notes For MRCP

Immunity against intracellular

organisms (Mycobacterium) by ?

255a
Basic Science
Badrawy Notes For MRCP

T-cells (cellular immunity).

255b
Basic Science
Badrawy Notes For MRCP

Knee extension mediated by ?

256a
Basic Science
Badrawy Notes For MRCP

L2, L3, L4.

256b
Basic Science
Badrawy Notes For MRCP

Ankle dorsiflexion mediated by ?

257a
Basic Science
Badrawy Notes For MRCP

L4, L5.

257b
Basic Science
Badrawy Notes For MRCP

Ankle plantar flexion & Great toe

extension mediated by ?

258a
Basic Science
Badrawy Notes For MRCP

S1, S2.

258b
Basic Science
Badrawy Notes For MRCP

Eversion of foot mediated by ?

259a
Basic Science
Badrawy Notes For MRCP

S1.

259b
Basic Science
Badrawy Notes For MRCP

Inversion of foot mediated by ?

26 a
Basic Science
Badrawy Notes For MRCP

L4.

26 b
Basic Science
Badrawy Notes For MRCP

Lumbar disk prolapse mostly affects

which roots ?

261a
Basic Science
Badrawy Notes For MRCP

L4/L5 and L5/S (Sudden weight

lifting).

261b
Basic Science
Badrawy Notes For MRCP

Genital itching after condom use,

itching perioral region after blowing
up balloons ?

262a
Basic Science
Badrawy Notes For MRCP

Latex allergy/ Rubber allergy

(Bananas, Avocados, Kiwi fruits also
cause rubber allergy).

262b
Basic Science
Badrawy Notes For MRCP

motor supply to the intrinsic muscles

of the hand which dermatome ?

263a
Basic Science
Badrawy Notes For MRCP

(C8, T1) , if affected weakness of

the hand muscles Klumpke's
paralysis.

263b
Basic Science
Badrawy Notes For MRCP

movements of the shoulder and

elbow supplied by which dermatome
?

264a
Basic Science
Badrawy Notes For MRCP

C6 and C7

264b
Basic Science
Badrawy Notes For MRCP

The[[[[[[ is required for normal

positioning of the arm ?

265a
Basic Science
Badrawy Notes For MRCP

radial nerve

265b
Basic Science
Badrawy Notes For MRCP

[[[[[lesion affects the small

muscles of the hand and wrist flexion
but not the positioning of the arm ?

266a
Basic Science
Badrawy Notes For MRCP

proximal ulnar nerve

266b
Basic Science
Badrawy Notes For MRCP

Dx Ab in primary biliary cirrhosis ?

267a
Basic Science
Badrawy Notes For MRCP

Antimitochondrial antibodies 95% of

patients with primary biliary cirrhosis
especially against E2/E3 component of
pyruvate dehydrogenase complex. They
appear many years
before symptom develops and LFTs
derangement.
267b
Basic Science
Badrawy Notes For MRCP

Factors affecting expression of

aquaporin 2 proteins ?

268a
Basic Science
Badrawy Notes For MRCP

Extreme temperature conditions (Deserts)

increased expression of aquaporin 2
proteins increased water reabsorption and
decreases free water excretion .
Lithium induces Nephrogenic D.I by
decreasing the expression of aquaporin 2
proteins.
268b
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Badrawy Notes For MRCP

Lab value most suggestive of CRF

(not for ARF) ?

269a
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Badrawy Notes For MRCP

Hypocalcemia.

269b
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Badrawy Notes For MRCP

Tail of pancreas lies interiorly in

direct contact with[[[[[ without
separation by visceral peritoneum ?

27 a
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Badrawy Notes For MRCP

left kidney

27 b
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Badrawy Notes For MRCP

Botulinum Toxin A and E

cleaves[[1[[ and Botulinum Toxin C
cleaves [[[2[[[

271a
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Badrawy Notes For MRCP

1- SNAP-25
2- syntaxin.

271b
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Badrawy Notes For MRCP

[[1[[activates classical complement

pathway. [[2[[ activates Alternative
complement pathway.

272a
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Badrawy Notes For MRCP

1- IgG/IgM
2- IgA

272b
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Badrawy Notes For MRCP

Most specific finding that indicates

metabolic alkalosis ?

273a
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Badrawy Notes For MRCP

Raised plasma bicarbonate

concentration (Not high Arterial pH).

273b
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Badrawy Notes For MRCP

monoclonal antibodies against IL-2

(prevent T-cell
proliferation) ?

274a
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Badrawy Notes For MRCP

Basiliximab and Daclizumab

274b
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Badrawy Notes For MRCP

Infection with hemophilus influenza

and strep pneumonia (not strep.
Pyogenes) ?

275a
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Badrawy Notes For MRCP

indicates
hypogammaglobulinemia.

275b
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Badrawy Notes For MRCP

T-cell deficiencies is associated with

which infections ?

276a
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Badrawy Notes For MRCP

Pneumocystis jiroveci, viral and

candida infections, HIV

276b
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Badrawy Notes For MRCP

Respiratory central chemoreceptors

are located in[[1[[ and responds
directly to CSF [[2[[ion
concentration ?

277a
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Badrawy Notes For MRCP

1- medulla
2-hydrogen

277b
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Badrawy Notes For MRCP

Respiratory peripheral
chemoreceptors are located in[[1[[
responds to decreased [[2[[
concentration ?

278a
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Badrawy Notes For MRCP

1-(Aortic body in wall of arch of

aorta, carotid body in right / left
common carotid arteries)
2- O2

278b
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Badrawy Notes For MRCP

Inspiration controlled by
[[1[[medulla and expiration by
[[2[[medulla ?

279a
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Badrawy Notes For MRCP

1-dorsal
2-ventral

279b
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Badrawy Notes For MRCP

DiGeorge syndrome mnemonic ?

28 a
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Badrawy Notes For MRCP

Cardiac Abnormality (especially tetralogy

of Fallot)
Abnormal facies
Thymic aplasia /T cell deficiency
Cleft palate
Hypocalcemia/Hypoparathyroidism.
Convulsions + cardiovascular defects +
opportunistic infections
28 b
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Badrawy Notes For MRCP

[[[%[loss of Dopamine occurs prior

to emergence of Parkinsonism
symptoms ?

281a
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Badrawy Notes For MRCP

60-70%

281b
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Badrawy Notes For MRCP

Recurrent infections with

pneumocystis carinii causes ?

282a
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Badrawy Notes For MRCP

Hyper IgM Syndrome. (Increased

IgM, Decreased IgA and IgG -
Decreased Beta cell activation due to
T-cell defect).

282b
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Badrawy Notes For MRCP

A patient is found to have unilateral

pheochromocytoma and severe HTN.
His father died of Renal cancer
carcinoma. He also had brain surgery
for tumor. Most likely he is suffering
from ?
283a
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Badrawy Notes For MRCP

Von Hippel Lindau Syndrome. DNA

analysis will detect VHL gene
mutation in 90% of cases.

283b
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Badrawy Notes For MRCP

Most serious complication of NF-1 is

?

284a
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Badrawy Notes For MRCP

hypertension due to Renal Artery

Stenosis, pheochromocytoma or
malignant transformation of
neurofibromas.

284b
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Badrawy Notes For MRCP

confirmatory test for contact

dermatitis is [[[[ ?

285a
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Badrawy Notes For MRCP

patch test (Type 4 Hypersensitivity)

285b
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Badrawy Notes For MRCP

TPN patient suddenly gets drowsy in

emergency with abnormal electrolytes
?

286a
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Badrawy Notes For MRCP

Hypophosphatemia (Refeeding Syndrome).

Administration of
carbs/glucose insulin release shifts
phosphate into cell resulting its deficiency (
drowsiness, seizures, confusion, ascending
paralysis, ventricular arrhythmias,
myocardial depression).
286b
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Badrawy Notes For MRCP

Random cortisol levels should be

measured in cushing syndrome at
what time ?

287a
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Badrawy Notes For MRCP

2400 hour (midnight).

287b
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Badrawy Notes For MRCP

Anticipation is due to ?

288a
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Badrawy Notes For MRCP

expansion of Triplet repeats.

288b
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Badrawy Notes For MRCP

Bradycardia in patients with B/L

ptosis ?

289a
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Badrawy Notes For MRCP

Myotonic dystrophy

289b
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Badrawy Notes For MRCP

Redox process (hydrogen, transfer

chain in mitochondria) and
production of ATP requires[[[[ ?

29 a
Basic Science
Badrawy Notes For MRCP

Riboflavin.

29 b
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Badrawy Notes For MRCP

V/Q Ratio high (PaO2 high and

PaCO2 low) at ?

291a
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Badrawy Notes For MRCP

Apex of Lung

291b
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Badrawy Notes For MRCP

Rx of Metabolic alkalosis Secondary

to NG aspiration /Vomiting ?

292a
Basic Science
Badrawy Notes For MRCP

normal saline is best choice. Ringer

lactate exacerbates the alkalosis.

292b
Basic Science
Badrawy Notes For MRCP

Ehler's Danlos Syndrome Type [[

collagen defect ?

293a
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Badrawy Notes For MRCP

collagen type 3 Autosomal recessive

Ehlers-Danlos, Collagen, Bowel
rupture and Bleeding into skin, Aortic
dissection.
Hypermobile joints, hyperelasticity of
skin and poor wound healing
293b
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Badrawy Notes For MRCP

Hereditary angioedema patient

presents with [[1[[ They don't
get[[2[[ They are resistant to
[[3[[.
Immediate management would be
[[4[[
294a
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Badrawy Notes For MRCP

1-abdominal pain / resp. distress.

2-urticarial or pruritus.
3-steroids /Anti histamines /
Epinephrine.
4-C1 inhibitor concentrates (ideally)
or C1 inhibitor (Present in FFPs).
294b
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Badrawy Notes For MRCP

Finding suggestive of CRF (Not

present in ARF) ?

295a
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Badrawy Notes For MRCP

Small kidney's on ultrasound.

295b
Basic Science
Badrawy Notes For MRCP

During normal inspiration

Diaphragm drops by [[1[[, and
negative pressure of [[2[[is created.

296a
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Badrawy Notes For MRCP

1- 1cm
2- 1-3 mm Hg

296b
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Badrawy Notes For MRCP

During strenuous exercise

Diaphragm drops by
[[[[(inspiration).

297a
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Badrawy Notes For MRCP

10 cm

297b
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Badrawy Notes For MRCP

Most common (lethal ) inherited

disease by white population ?

298a
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Badrawy Notes For MRCP

Cystic fibrosis (1:3200).

298b
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Badrawy Notes For MRCP

Most common inherited disease by

Northern Caucasians ?

299a
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Badrawy Notes For MRCP

Alpha 1 antitrypsin deficiency

299b
Basic Science
Badrawy Notes For MRCP

Dorsal column carries ?

3 a
Basic Science
Badrawy Notes For MRCP

Ipsilateral light touch, vibration and

proprioception fibers.

3 b
Basic Science
Badrawy Notes For MRCP

Stimulator of Apoptosis ?

3 1a
Basic Science
Badrawy Notes For MRCP

P53 / CD95 or fas.

3 1b
Basic Science
Badrawy Notes For MRCP

Inhibitor Of Apoptosis ?

3 2a
Basic Science
Badrawy Notes For MRCP

Bcl-2

3 2b
Basic Science
Badrawy Notes For MRCP

Dx of Gastric adenocarcinoma ?

3 3a
Basic Science
Badrawy Notes For MRCP

Biopsy (signet ring cells).

3 3b
Basic Science
Badrawy Notes For MRCP

Pain at tip of shoulder dt ?

3 4a
Basic Science
Badrawy Notes For MRCP

Phrenic Nerve damage (Ventral Rami

of C3, C4 ,C5).

3 4b
Basic Science
Badrawy Notes For MRCP

Alzheimer's disease dt ?

3 5a
Basic Science
Badrawy Notes For MRCP

Amyloid deposits.(A4B) .

3 5b
Basic Science
Badrawy Notes For MRCP

Rx of Late phase Anaphylaxis caused

by PG and Leukotrienes ?

3 6a
Basic Science
Badrawy Notes For MRCP

Hydrocortisone (blocks the generation of

prostaglandins and leukotrienes).

3 6b
Basic Science
Badrawy Notes For MRCP

Man went up in hot air balloon

without sufficient clothes to keep
warm presents with ARF and
purpuric / vasculitic rash over legs ?

3 7a
Basic Science
Badrawy Notes For MRCP

Cryoglobulinemias. Cryoglobulins are

cold precipitate immunoglobulins.

3 7b
Basic Science
Badrawy Notes For MRCP

Mechanism of action of Protein C

(Vitamin K dependent serine
protease) ?

3 8a
Basic Science
Badrawy Notes For MRCP

inhibits coagulation by inactivating

factor 5 and 8 (activated forms).

3 8b
Basic Science
Badrawy Notes For MRCP

[[[[transcribes DNA from RNA ?

3 9a
Basic Science
Badrawy Notes For MRCP

Reverse Transcriptase

3 9b
Basic Science
Badrawy Notes For MRCP

Neutrophil disorders results in [[[[

infections ?

31 a
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Badrawy Notes For MRCP

staph. Aureus

31 b
Basic Science
Badrawy Notes For MRCP

Birch pollen induced oral Allergy ?

311a
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Badrawy Notes For MRCP

Due to raw fruits / vegetables as cooking

denatures
the allergen. Patient eating apple
complains of itching in throat and
rhinitis is typical history.
Apples contain salicylates and so may
cause urticarial (Salicylate Sensitivity).
311b
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Badrawy Notes For MRCP

Chediak Higashi Syndrome ?

312a
Basic Science
Badrawy Notes For MRCP

Neutrophilic lysosomal store /

release defect.
High risk of recurrent Neisseria
infections.
Defective Neutrophil chemotaxis.
312b
Basic Science
Badrawy Notes For MRCP

Earliest lesion in diabetic retinopathy

?

313a
Basic Science
Badrawy Notes For MRCP

Dot hemorrhage (microaneurysm).

313b
Basic Science
Badrawy Notes For MRCP

Muscle weakness. Looser's zones (X-

Ray femur) ?

314a
Basic Science
Badrawy Notes For MRCP

Osteomalcia (Decreased absorption

of calcium from gut).

314b
Basic Science
Badrawy Notes For MRCP

If both partners have autosomal

dominant disease (Heterozygous
state), chance of/ risk of disease
transmission is ?

315a
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Badrawy Notes For MRCP

3/4 of children will have disease. No

carrier state. No sex discrimination.

315b
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Badrawy Notes For MRCP

Palmar Xanthomas Pathogenic of ?

316a
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Badrawy Notes For MRCP

Remnant dyslipidemia or broad beta

or type 3disease
hyperlipidemia (Raised both
cholesterol / TG) (IDL is present in
excess) (Increased risk of CAD).
316b
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Badrawy Notes For MRCP

Influenza viruss[[[[ to avoid

antibody detection b

317a
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Badrawy Notes For MRCP

mutates its surface neuraminidase

and haemagglutinin

317b
Basic Science
Badrawy Notes For MRCP

Pancreatitis in childhood with raised

TG ?

318a
Basic Science
Badrawy Notes For MRCP

Lipoprotein lipase deficiency or Apo C-2

deficiency

318b
Basic Science
Badrawy Notes For MRCP

Tall stature, lens (inferior

dislocation), recurrent arterial
thrombi, learning difficulties ?

319a
Basic Science
Badrawy Notes For MRCP

Homocystinuria.

319b
Basic Science
Badrawy Notes For MRCP

Mode of action of Acyclovir ?

32 a
Basic Science
Badrawy Notes For MRCP

prodrug, activated monophosphate

form by viral thymidine kinase allows
it to incorporate into viral DNA
resulting in chain termination.

32 b
Basic Science
Badrawy Notes For MRCP

eye movement dt Superior oblique

muscle ?

321a
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Badrawy Notes For MRCP

intorsion and depression of eye ball.

321b
Basic Science
Badrawy Notes For MRCP

Clinical picture of Hyper IgD ?

322a
Basic Science
Badrawy Notes For MRCP

associated with recurrent attacks of fever,

vomiting abdominal pain,
lymphadenopathy. Periodic fever FMF is
type of period fever.

322b
Basic Science
Badrawy Notes For MRCP

Ulnar nerve damage at medial

epicondyle ?

323a
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Badrawy Notes For MRCP

1. Sensory loss on ulnar side of 4th and 5th whole

fingers
2.Absence of sweating on ulnar border of hand
3. 4th and 5th fingers held in claw position
4. Wasting of hypothenar eminence
5. Inability to grip a sheet of paper between his
fingers when hand placed flat on table (interossi
function test).
323b
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Badrawy Notes For MRCP

salad bar Syndrome ?

324a
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Badrawy Notes For MRCP

Sulphites on pre packed salads cause

Asthma

324b
Basic Science
Badrawy Notes For MRCP

Electrophoresis show IgM spike ?

325a
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Badrawy Notes For MRCP

Waldenstrom's macroglobulinemia.

325b
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Badrawy Notes For MRCP

female patient (pregnant) with mild

increased T4 and mild decreased
TSH ?

326a
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Badrawy Notes For MRCP

Physiological due to beta -hCG.

326b
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Badrawy Notes For MRCP

Polyuria, polydipsia and narrowed

QT interval ?

327a
Basic Science
Badrawy Notes For MRCP

Hypercalcemia.

327b
Basic Science
Badrawy Notes For MRCP

Poisons causing Hypocalcemia ?

328a
Basic Science
Badrawy Notes For MRCP

ethylene glycol,Oxalic acid ,

Hydrofluoric acid.

328b
Basic Science
Badrawy Notes For MRCP

Winging of scapula with weakness of

shoulder girdle muscle. Patients also
have weak
shoulder elevation?

329a
Basic Science
Badrawy Notes For MRCP

Accessory Nerve damage supplying

Trapezius.

329b
Basic Science
Badrawy Notes For MRCP

Winging of scapula without wasting

of shoulder muscle ?

33 a
Basic Science
Badrawy Notes For MRCP

Long thoracic nerve damage (C5-C6)

supplying serratus anterior muscle.

33 b
Basic Science
Badrawy Notes For MRCP

Combination of hypertriglyceridemia
and elevated GGT ?

331a
Basic Science
Badrawy Notes For MRCP

Alcohol induced hepatic steatosis.

if with ALT Alcohol induced
steatohepatitis.

331b
Basic Science
Badrawy Notes For MRCP

H/O bone fractures following minor

trauma, B/L hearing loss, teeth
discoloration and mild joint laxity ?

332a
Basic Science
Badrawy Notes For MRCP

osteogenesis imperfecta. Type 1 is

less severe. Type 2 causes death in
utero.

332b
Basic Science
Badrawy Notes For MRCP

Skin laxity with hypermobile joints

but not susceptible to fractures ?

333a
Basic Science
Badrawy Notes For MRCP

Ehlers Danlos Syndrome.

333b
Basic Science
Badrawy Notes For MRCP

Tuberous Xanthomas (Elbows) /

Palmer Xanthomas ?

334a
Basic Science
Badrawy Notes For MRCP

Remnant hyperlipidemia fibrates +

lifestyle changes .

334b
Basic Science
Badrawy Notes For MRCP

most reliable diagnostic of

Hemochromatosis ?

335a
Basic Science
Badrawy Notes For MRCP

Liver biopsy

335b
Basic Science
Badrawy Notes For MRCP

BJ proteins are diagnostic of ?

336a
Basic Science
Badrawy Notes For MRCP

Multiple Myeloma.

336b
Basic Science
Badrawy Notes For MRCP

Nerve supply of adductor pollicis

brevis muscle. ?

337a
Basic Science
Badrawy Notes For MRCP

Ulnar Nerve

337b
Basic Science
Badrawy Notes For MRCP

nerve affection in poliomyelitis ?

338a
Basic Science
Badrawy Notes For MRCP

alpha motor neurons affected. No

sensory loss.

338b
Basic Science
Badrawy Notes For MRCP

All autosomal monosomies /

trisomies are incompatible with life
except ?

339a
Basic Science
Badrawy Notes For MRCP

except 13, 18, 21

339b
Basic Science
Badrawy Notes For MRCP

Most common presentation of Acute

intermittent porphyria ?

34 a
Basic Science
Badrawy Notes For MRCP

Acute abdomen

34 b
Basic Science
Badrawy Notes For MRCP

Etiology of Gaucher's disease ?

341a
Basic Science
Badrawy Notes For MRCP

glucocerebrosidase enzyme
accumulation of glucocerebrosides
within lysosomes
hepatosplenomegaly, skeletal
deteoriation.
341b
Basic Science
Badrawy Notes For MRCP

Etiology of Niemann Pick disease ?

342a
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Badrawy Notes For MRCP

sphingomyelinase deficiency.
Sphingomyelins accumulation
occurs. Mental retardation and
hepatosplenomegaly may resemble
Taysach's Disease with a cherry red
spot at macula. Foam cells in bone
marrow seen.
342b
Basic Science