CRUSH the MRCP Basic Science Revision

CRUSH the MRCP The ULTIMATE REVISION Basic Science
BY
Dr.Sherif Badrawy
Critical Care Badrawy Notes For MRCP
Basic Science

MNEMONIC Type 1 hypersensitivty: "First and Fast"
1a
Badrawy Notes For MRCP
Basic Science
Dr.Sherif
Badrawy
Digitally signed by
Dr.Sherif Badrawy
DN: cn=Dr.Sherif
Badrawy, o=KKUH,
ou=Critical Care,
email=sherif_badraw
y@yahoo.com, c=SA
Date: 2014.12.14
15:45:41 +03'00'

◤ First = first type ◤ Fast = anaphylaxis
◤ Antigen + IgE bound to mast cells ➜ degranulation of mast cells.
1b
Basic Science

MNEMONIC Type 2 hypersensitivity: "type 2 is cy-2-toxic"
2a
Basic Science

◤ cytotoxic (antibody mediated)
◤ IgG or IgM binds to antigen on cell surface
◤ Autoimmune hemolytic anemia, ITP, Goodpasture's
2b
Basic Science

MNEMONIC Type 3 hypersensitivity: "imagine an immune complex as 3 things stuck together"
3a
Basic Science

antigen+AB+complement ➜deposition on the complex on the tissue
➜immunological tissue destruction.
Serum sickness, SLE, post-streptococcal glomerulonephritis, extrinsic allergic alveolitis
3b
Basic Science

MNEMONIC Type 4 hypersensitivity = "4th and last"
4a
Basic Science

delayed hypersensitivity
4b
Basic Science

MNEMONIC Type 4 hypersensitivity = 4 T's
5a
Basic Science

◤ T cell mediated
◤ Transplant rejections ◤ TB skin tests
◤ ConTacT dermaTiTis ◤ scabies
◤ exTrinsic allergic alveoliTis
5b
Basic Science

MNEMONIC hypersensitivities: ACID
6a
Basic Science

◤ 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
Basic Science

Bruton's agammaglobulinemia: Think B's ?
7a
Basic Science

◤ Bruton's ◤ Boys
◤ no B cells maturation ➜ recurrent pyogenic infections once maternal antibody levels fall.
7b
Basic Science

Hyper-IgE syndrome (Job's syndrome): FATED
8a
Basic Science

◤ 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
Basic Science

Wiskott-Aldrich syndrome: Triad TIE
9a
Basic Science

◤ T = thrombocytopenic purpura ◤ I = infections
◤ E = eczema
9b
Basic Science

HLAs are encoded for by genes on which chromosome ?
11a
Basic Science

chromosome 6.
11b
Basic Science

class I HLAs antigens ?
12a
Basic Science

HLA A, B and C
12b
Basic Science

class II HLAs antigens ?
13a
Basic Science

HLA DP, DQ, DR
13b
Basic Science

HLA-B27 disease association ?
14a
Basic Science

◤ Ankylosing spondylitis ◤ Postgonococcal arthritis ◤ Acute anterior uveitis ◤ Reiter's syndrome (reactive arthritis)
14b
Basic Science

HLA-DR2 disease association ?
15a
Basic Science

◤ Narcolepsy ◤ Goodpasture's
15b
Basic Science

16a
Basic Science

◤ Autoimmune hepatitis
◤ Primary biliary cirrhosis
◤ Diabetes mellitus type 1
◤ Dermatitis herpetiformis
◤ Coeliac disease (95% associated with HLA-DQ2)
◤ Primary Sjögren syndrome
16b
Basic Science

17a
Basic Science

◤ Rheumatoid arthritis
◤ Diabetes mellitus type 1 (> DR3)
17b
Basic Science

HLA-DR3 + DR4 combined disease association ?
18a
Basic Science

Diabetes mellitus type 1
18b
Basic Science

19a
Basic Science

21-hydroxylase deficiency
19b
Basic Science

HLA-A3 disease association ?
2 a
Basic Science

Hemochromatosis
2 b
Basic Science

21a
Basic Science

Behcet's disease
21b
Basic Science

Felty's syndrome HLA association ?
22a
Basic Science

◤ HLA-DRW4 ◤ HLA-DR4
22b
Basic Science

CD1 significance ?
23a
Basic Science

presents lipid molecules
23b
Basic Science

CD2 significance ?
24a
Basic Science

Found on thymocytes, T cells, and some natural killer cells signal transduction and cell adhesion
24b
Basic Science

CD3 significance ?
25a
Basic Science

The signalling component of the T cell receptor (TCR) complex
25b
Basic Science

CD4 significance ?
26a
Basic Science

Co-receptor for HLA class II; also a receptor used by HIV to enter T cells
26b
Basic Science

CD8 significance ?
27a
Basic Science

Co-receptor for HLA class I; also found on a subset of myeloid dendritic cells
27b
Basic Science

Type 5 hypersensitivty:Stimulated hypersensitivity ?
28a
Basic Science

IgG antibodies stimulate cells they are directed against
Graves', myasthenia Gravis
28b
Basic Science

Uses of Skin prick test ?
29a
Basic Science

◤ food allergies,pollen and wasp/bee venom
◤ histamine (positive) and sterile water (negative) control
◤ Interpret after 15 minutes
29b
Basic Science

Uses of Radioallergosorbent test (RAST) ?
3 a
Basic Science

◤ 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
3 b
Basic Science

Uses of Skin patch testing ?
31a
Basic Science

CONTACT DERMATITIS.
31b
Basic Science

IgG % of serum Abs ? & half-life ?
32a
Basic Science

75% -7-23 days
32b
Basic Science

Functions of The Fc portion of IgG ?
33a
Basic Science

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
Basic Science

IgA % of serum Abs ? half-life ?
34a
Basic Science

15%- ≅ 5 days.
34b
Basic Science

Functions of IgA ?
35a
Basic Science

◤ 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
Basic Science

IgM % of serum Abs ? half-life ?
36a
Basic Science

10% -5 days.
36b
Basic Science

Functions of IgM?
37a
Basic Science

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
Basic Science

IgD % of serum Abs ?
38a
Basic Science

1%
38b
Basic Science

Functions of IgD?
39a
Basic Science

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
Basic Science

IgE % of serum Abs ? half-life ?
4 a
Basic Science

0.002%-2 days
4 b
Basic Science

Functions of IgE?
41a
Basic Science

✱ 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
Basic Science

Basic Science

Examples of Primary
Immunodeficiency dt Neutrophil disorders ?
42a
Basic Science

❃ Chronic granulomatous disease. ❃ Chediak-higashi syndrome. ❃ Leukocyte adhesion deficiency.
42b
Basic Science

Examples of Primary
Immunodeficiency dt B-cell disorders ?
43a
Basic Science

❃ IgA deficiency.
❃ Bruton's congenital agammaglobulinemia. ❃ Common variable
immunodeficiency.
43b
Basic Science

Examples of Primary
Immunodeficiency dt T-cell disorders ?
44a
Basic Science

❃ DiGeorge syndrome
《microdeletion syndrome 》.
Patients at ↑ risk of viral and fungal infections.
44b
Basic Science

Examples of Primary
Immunodeficiency dt Combined B- and T-cell disorders ?
45a
Basic Science

Severe combined immunodeficiency Ataxic telangiectasia(Autosomal recessive - 10% risk of developing malignancy, lymphoma or leukaemia. recurrent chest infections)
45b
Basic Science

Definition of Wiskott-Aldrich syndrome ?
46a
Basic Science

X-linked recessive.
mutation in the WASP gene. recurrent bacterial infections (e.g.chest)eczema &
thrombocytopenia + ↓ IgG).
46b
Basic Science

cANCA =?
47a
Basic Science

【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
Basic Science

pANCA =?
48a
Basic Science

【Churg-Strauss syndrome 】+ others
〖Cannot use level of pANCA to monitor disease activity 〗 Most common target is myeloperoxidase (MPO)
48b
Basic Science

Etiology of ↑ pANCA ?
49a
Basic Science

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
Basic Science

Disease associated with C1 inhibitor (C1-INH) Complement deficiency ?
5 a
Basic Science

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

Disease associated with C1q, C1rs, C2, C4 Complement deficiency ?(classical pathway components)
51a
Basic Science

immune complex disease E.g. SLE, HSP
51b
Basic Science

Disease associated with C3 Complement deficiency ?
52a
Basic Science

recurrent bacterial infections
52b
Basic Science

Disease associated with C5 Complement deficiency ?
53a
Basic Science

⌼ Leiner disease ( long lasting
seborrhea dermatitis + ↑ likelihood to infection).
⌼ Recurrent diarrhea, wasting and seborrhoeic dermatitis
⌼ Disseminated meningococcal
infection.
53b
Basic Science

Disease associated with C5-9 Complement deficiency ?
54a
Basic Science

Neisseria meningitidis infection Encodes the membrane attack complex (MAC)
54b
Basic Science

Causes of Normal Anion gap metabolic acidosis ?
55a
Basic Science

【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
Basic Science

Causes of High Anion gap metabolic acidosis ?
56a
Basic Science

【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
Basic Science

Types of Lactic acidosis ?
57a
Basic Science

✵ Lactic acidosis type A: shock, hypoxia, burns
✵ Lactic acidosis type B: metformin Inborn error of metabolism
57b
Basic Science

Causes of Metabolic Alkalosis ?
58a
Basic Science

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
Basic Science

Mechanism of metabolic alkalosis ?
59a
Basic Science

✪ 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
Basic Science

What's the 1st test to do after Hyponatremia ?
6 a
Basic Science

◆ 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.
6 b
Basic Science

Etiology of Hypotonic Hyponatremia according to ECF volume?
61a
Basic Science

❀ 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
Basic Science

Etiology of Hypernatremia ? (DDOH)
62a
Basic Science

▶ Dehydration
▶ Diabetes insipidus
▶ Osmotic diuresis ➜ ex. HONK ▶ Hypertonic saline
62b
Basic Science

Etiology of Hyperkalemia ? (MACHINE )
63a
Basic Science

▶M - Medications - ACE inhibitors, NSAIDS,K+ sparing,β-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
Basic Science

Clinical picture of Hyperkalemia ? (MURDER )
64a
Basic Science

▶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
Basic Science

Rx of Hyperkalemia ?
65a
Basic Science

『Stabilisation of the cardiac membrane 』 ◔ intravenous calcium gluconate
『K+ shift from extracellular to intracellular 』 ◔ combined insulin/dextrose infusion ◔ nebulised β2 agonist → salbutamol 『Removal of potassium from the body 』 ◔ calcium resonium (orally or enema) ◔ loop diuretics
◔ dialysis
65b
Basic Science

Etiology of Hypokalemia with alkalosis ?
66a
Basic Science

❂ Vomiting ❂ Diuretics
❂ Cushing's syndrome
❂ Conn's syndrome (primary hyperaldosteronism)
66b
Basic Science

Etiology of Hypokalemia with acidosis ?
67a
Basic Science

❂ Diarrhea ❂ RTA
❂ Acetazolamide
❂ Partially treated DKA
67b
Basic Science

ECG features of hypokalemia ?
68a
Basic Science

❂ U waves
❂ Prolong PR interval ❂ Long QT
❂ Small or absent T waves (occasionally inversion) ❂ ST depression
68b
Basic Science

Etiology of Hypomagnesemia ?
69a
Basic Science

❂ DIURETICS ❂ Diarrhea
❂ Hypokalemia, hypocalcemia ❂ TPN
❂ Alcohol
69b
Basic Science

Clinical picture of Hypomagnesemia ?
7 a
Basic Science

✱ Tetany & convulsions ✱ Paraesthesia
✱ Hypokalemia with ECG changes ✱ Hypocalcemia dt ↓ PTH secretion ✱ Exacerbates digoxin toxicity ✱ Arrhythmias
7 b
Basic Science

Etiology of Hypophosphatemia ?
71a
Basic Science

✱ Refeeding syndrome
✱ Primary hyperparathyroidism ✱ Osteomalacia
✱ DKA
✱ Alcohol
✱ Acute liver failure
71b
Basic Science

Complications of Hypophosphatemia ?
72a
Basic Science

✱ hemolysis ,WBC and platelet dysfunction
✱ Muscle weakness and rhabdomyolysis
✱ CNS dysfunction
72b
Basic Science

Vitamin D effect on Calcium & phosphate Metabolism ?
73a
Basic Science

↑ plasma calcium and plasma
phosphate ➜ dt ↑ renal tubular
absorption and ↑ gut absorption of calcium and ↑ renal phosphate reabsorption
73b
Basic Science

hormones control calcium metabolism ?
74a
Basic Science

✸ PRIMARY CONTROL:-
✾ parathyroid hormone (PTH) ✾ vitamin D
✸ OTHERS:- ✾ Calcitonin ✾ Thyroxine
✾ Growth hormone
74b
Basic Science

Actions of parathyroid hormone ?
75a
Basic Science

【↑ 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
Basic Science

Actions of vitamin D ?
76a
Basic Science

【↑ plasma calcium, ↑ plasma phosphate 】
□ ↑ plasma calcium dt ➜
□ ↑ renal reabsorption of calcium □ ↑ osteoclastic activity
□ ↑ plasma phosphate dt ➜ ↑renal
reabsorption
76b
Basic Science

Corrected Ca+ = ?
77a
Basic Science

serum Ca level (mmol/l) + [40 - S.Albumin (g/dl)] x 0.027
77b
Basic Science

Etiology of Hypocalcemia ?
78a
Basic Science

◊ 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
Basic Science

Why Cisplatin ( Rx of non-small cell lung cancer) usually associated with Hypocalcemia ?
79a
Basic Science

Cisplatin is a well known cause of
magnesium deficiency. Without first correcting magnesium levels it is difficult to reverse hypocalcemia
79b
Basic Science

Clinical picture of Hypocalcemia ?
8 a
Basic Science

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
8 b
Basic Science

Rx of Hypocalcemia ?
81a
Basic Science

◕ IV calcium gluconate, 10ml of 10% solution over 10 minutes (IV calcium chloride) ➜local irritation
◕ ECG monitoring
◕ Rx of the cause
81b
Basic Science

Most common causes of Hypercalcemia ?
82a
Basic Science

【primary hyperparathyroidism 】( MCC of silent hypercalcemia) 【malignancy 】(bone metastases, myeloma, PTHrP from
squamous cell lung cancer) ( MCC of symptomatic Hypercalcemia ➜
hospitalization).
82b
Basic Science

DD between monoclonal gammopathy of uncertain
significance (MGUS) and myeloma ?
83a
Basic Science

absence of complications such as immune paresis, hypercalcemia and bone pain.
83b
Basic Science

Etiology of Hypercalcemia ? (VITAMINS TRAP)
84a
Basic Science

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
Basic Science

Rx of Hypercalcemia ?
85a
Basic Science

✬ 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
Basic Science

Conditions associated with Hyperuricemia ?
86a
Basic Science

hyperlipidemia and hypertension & metabolic syndrome
86b
Basic Science

Etiology of Hyperuricemia dt ↑ Synthesis ?
87a
Basic Science

★ Lesch-Nyhan disease ★ Myeloproliferative
disorders ➜Cytotoxics ➜ tumer lysis syndrome
★ Diet rich in purines ★ Exercise
★ Psoriasis
87b
Basic Science

Etiology of Hyperuricemia dt ↓ Excretion ?
88a
Basic Science

★ Renal failure
★ Drugs: low-dose aspirin, diuretics, pyrazinamide
★ Pre-eclampsia ★ Alcohol
★ Lead
88b
Basic Science

Acute Phase Proteins that ↑ during inflammation ?
89a
Basic Science

✰ CRP
✰ Ferritin
✰ Caeruloplasmin ✰ Complement ✰ Haptoglobin ✰ Fibrinogen ✰ α-1 antitrypsin
✰ Serum amyloid A & P
89b
Basic Science

Acute Phase Proteins that ↓ during inflammation ?
9 a
Basic Science

✰ albumin ✰ prealbumin ✰ transferrin
✰ retinol binding protein ✰ cortisol binding protein
9 b
Basic Science

Other name of Nitric Oxide ?
91a
Basic Science

endothelium derived relaxation factor
It is formed from L-arginine and oxygen by nitric oxide synthetase (NOS).
91b
Basic Science

Mechanism of Nitric Oxide ?
92a
Basic Science

✪ Vasodilation, mainly venodilation ✪ Inhibits platelet aggregation ✪ dt Action on guanylate cyclase ➜ ↑ intracellular cGMP ➜ ↓ Ca++ levels.
92b
Basic Science

Clinical relevance of Nitric Oxide ?
93a
Basic Science

✪ ↓ 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

Mechanism of Atrial Natriuretic Peptide (ANP) ?
94a
Basic Science

✪ secreted by heart muscle cells ➜.right atrium and ventricle in response to ↑ blood volume ➜ +
cGMP
94b
Basic Science

Effects of Atrial Natriuretic Peptide (ANP) ?
95a
Basic Science

✫ ↓ water, sodium and adipose loads on the circulatory system, ✫ Antagonises actions of angiotensin II, aldosterone ➜ ↓ BP
95b
Basic Science

Clinical uses of B-type Natriuretic Peptide (BNP) ?
96a
Basic Science

✾ 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

Etiology of ↑BNP ?
97a
Basic Science

✼ heart failure
✼ LV dysfunction dt myocardial ischemia or valvular disease ✼ Renal failure
97b
Basic Science

Etiology of ↓BNP ?
98a
Basic Science

✼ ACE I ✼ ARBs
✼ diuretics.
98b
Basic Science

Mechanism of Endothelin I action ?
99a
Basic Science

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

Factors Promote the release of Endothelin I ?
1
a Badrawy Notes For MRCP
Basic Science

⌘ Angiotensin II ⌘ ADH
⌘ Hypoxia
⌘ Mechanical shearing forces
1
b Badrawy Notes For MRCP
Basic Science

Factors inhibit the release of Endothelin I ?
1 1a
Basic Science

⌘ Nitric oxide ⌘ Prostacyclin
1 1b
Basic Science

Endothelin I Raised levels in ?
1 2a
Basic Science

⌘ MI
⌘ Heart failure ⌘ ARF
⌘ Asthma
⌘ Primary pulmonary hypertension
1 2b
Basic Science

TNF is secreted mainly by ?
1 3a
Basic Science

macrophages.
key mediator of body response to
gram NEGATIVE septicemia and it is a costimulator of T cell.
1 3b
Basic Science

Definition of Interferons (IFN) ?
1 4a
Basic Science

⌘ CYTOKINES released by the body in response to viral infections and neoplasia.
⌘ IFN-α and IFN-β bind to type-1 receptors,
⌘ IFN-gamma binds only to type-2
receptors.
1 4b
Basic Science

Functions of IFN-α (a"L"pha) ?
1 5a
Basic Science

⌘ 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

Functions of IFN-"β" ?
1 6a
Basic Science

⌘ Produced by fibro"B"lasts
⌘ Antiviral action ➜ ↓ frequency of exacerbations in patients with
relapsing-remitting MS
1 6b
Basic Science

Functions of IFN-gamma ?
1 7a
Basic Science

⌘ 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

Definition of Leukotrienes ?
1 8a
Basic Science

FATTY MOLECULES (arachidonic acid derivatives) of the immune system ➜contribute to inflammation
in asthma and bronchitis.
1 8b
Basic Science

Functions of Leukotrienes ?
1 9a
Basic Science

✫ 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

Definition of Interleukin 1 (IL-1) ?
11 a
Basic Science

✫ key mediator of the immune response.
✫ secreted by ➜ macrophages and monocytes
✫ Action ➜costimulator of T cell and B cell proliferation
11 b
Basic Science

Functions of Interleukin 1 (IL-1) ?
111a
Basic Science

✫ 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 é IL-6 and TNF
111b
Basic Science

Functions of T-Helper Cells 1 ?
112a
Basic Science

✫ Cell mediated response and delayed (type IV) hypersensitivity ✫ Secrete IFN-gamma, IL-2, IL-3
112b
Basic Science

Functions of T-Helper Cells 2 ?
113a
Basic Science

✫ mediating humoral (antibody) immunity ➜(+) IgE production in asthma
✫ Secrete IL-4, IL-5, IL-6, IL-10, IL- 13
113b
Basic Science

first Cardiac marker to rise in MI ?
114a
Basic Science

Myoglobin (rise éin 1-2 h,Peak 6-8 h,Back to normal 1-2 d)
114b
Basic Science

Cardiac marker useful to look for reinfarction ?
115a
Basic Science

CK-MB (rise éin 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

Most useful Cardiac marker for MI ?
116a
Basic Science

TROPONIN (rise éin 4-6 h,Peak12-24 h,Back to normal 7-10 d)
116b
Basic Science

Causes of ↑ alkaline phosphatase (ALP) ?
117a
Basic Science

✫ PAGET'S DISEASE 《1,2 & 3 é ↑ Ca 》 ✫ Bone metastases
✫ Hyperparathyroidism
✫ Osteomalacia 《4 & 5 é ↓ Ca 》 ✫ Renal failure
✫ Liver: cholestasis, hepatitis, fatty liver, neoplasia ✫ Physiological: pregnancy, growing children, healing fractures
117b
Basic Science

Definition of ESR ?
118a
Basic Science

non-specific marker of inflammation and depends on both the size, shape and number of RBCs & the
concentration of plasma proteins
such as fibrinogen, α2-globulins and gamma globulins
118b
Basic Science

Etiology of ↑ ESR ?
119a
Basic Science

★ Temporal arteritis ★ Multiple Myeloma ★ CT Diseases
★ Malignancies ★ Infection
★ Others ➜anemia,Elderly, ♀
119b
Basic Science

Etiology of ↓ ESR ?
12 a
Basic Science

★ Polycythemia
★ Afibrinogenemia/hypofibrinogenemia
12 b
Basic Science

Etiology of ↑ Leukocyte alkaline phosphatase ?
121a
Basic Science

★ Myelofibrosis
★ Leukemoid reactions ★ PRV
★ Infections
★ Corticosteroids, Cushing's syndrome
★ Pregnancy, oral contraceptive pill
121b
Basic Science

Etiology of ↓ Leukocyte alkaline phosphatase ?
122a
Basic Science

★ CML
★ IMN (EBV) ★ PNH
★ Pernicious anemia
122b
Basic Science

Definition of Gene ? = PROTEIN
123a
Basic Science

a region of DNA that encodes protein.
123b
Basic Science

Definition of Genome ?= Group gene
124a
Basic Science

Group gene ➜ intervening DNA sequence
124b
Basic Science

Definition of Locus ? = SITE
125a
Basic Science

site of gene on a chromosome
125b
Basic Science

Definition of Chromosome ?
126a
Basic Science

Self-replicating genetic structure ➜ nucleotide sequence
126b
Basic Science

Definition of Alleles ?
127a
Basic Science

【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

Definition of Haploid ?
128a
Basic Science

a single set of chromosomes (half the full set of genetic material), present in the gamete (egg or sperm) = (23).
128b
Basic Science

Definition of Codon ?
129a
Basic Science

sequence of AMINO ACID
129b
Basic Science

Definition of Karyotype ?
13 a
Basic Science

number and appearance of
chromosomes in the nucleus, in
human there are 44 autosome + 2 sex chromosomes
13 b
Basic Science

Definition of Autosome ?
131a
Basic Science

any chromosome other than sex chromosome (22 pairs)
131b
Basic Science

Etiology of Autosomal Recessive Conditions ?
132a
Basic Science

Autosomal 【RECESSIVE 】conditions are 【'METABOLIC' 】except 〚inherited ataxias. 〛
132b
Basic Science

Etiology of Autosomal Dominant Conditions ?
133a
Basic Science

Autosomal 【DOMINANT 】conditions are 【'STRUCTURAL' 】except 〚hyperlipidemia type II, hypokalaemic
periodic paralysis 〛
133b
Basic Science

General Criteria of Autosomal Recessive Conditions ?
134a
Basic Science

✯ 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

If two heterozygote parents (Carrier Parents),what's the propability in the children ? (review the pic page 31)
135a
Basic Science

✯ 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

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

✯ All the children will be carriers
136b
Basic Science

Specific Clues to Autosomal Dominant or recessive ?
137a
Basic Science

✯【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

Other mnemonic for Autosomal Dominant Conditions ?
138a
Basic Science

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

General Criteria of Autosomal Dominant Conditions ?
139a
Basic Science

✯ 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

General Criteria of X-linked Recessive Conditions ?
14 a
Basic Science

✯ 【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

Father is affected and mother is carrier of X-linked Recessive Conditions ?
141a
Basic Science

✯ 【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

X-linked recessive conditions ?
142a
Basic Science

➜ 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

Clinical picture of Wiskott-Aldrich syndrome ?
143a
Basic Science

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

Diseases have varying patterns of inheritance with the majority being X-linked recessive ?
144a
Basic Science

Chronic granulomatous disease (in > 70%)
(Primary
Immunodeficiency,Neutrophil disorder)
144b
Basic Science

General Criteria of X-linked Dominant Conditions ?
145a
Basic Science

❐ 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

X-linked Dominant conditions ?
146a
Basic Science

❐ Vit D resistant Rickets ❐ Rett syndrome
❐ Alport syndrome (85% XLD)
146b
Basic Science

Definition of anticipation ?
147a
Basic Science

earlier onset of genetic disease in successive generations.
In most cases also ↑in the severity of symptoms is also noted.
147b
Basic Science

Definition of Trinucleotide Repeat Disorders ?
148a
Basic Science

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

Examples of Trinucleotide Repeat Disorders (anticipation)?
149a
Basic Science

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

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

Lysosomes
15 b
Basic Science

Criteria of Mitochondrial Disease inheritance ?
151a
Basic Science

❊ rare neurological diseases (ex. Leber's OA
,MELAS .MERRF ,Pearson syndrome)
❊ Inheritance is only via the maternal line as the sperm contributes é 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

Dx of Mitochondrial Diseases ?
152a
Basic Science

Muscle biopsy classically shows 'red, ragged fibres' due to ↑ number of mitochondria
152b
Basic Science

Definition of Tumour Suppressor Genes ?
153a
Basic Science

Genes which normally control the cell cycle
Exhibit a recessive effect - both copies must be mutated before cancer occurs
153b
Basic Science

Examples of Tumour Suppressor Genes ?
154a
Basic Science

❊ P53
❊ APC: colorectal cancer ❊ NF-1: neurofibromatosis ❊ RB: retinoblastoma
154b
Basic Science

Definition of Proto-Oncogenes ?
155a
Basic Science

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

Significance of P53 Gene ?
156a
Basic Science

✾ 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

Li-Fraumeni Syndrome ?
157a
Basic Science

AD disease ➜ cancers (sarcomas, breast cancer).dt mutation in the p53 gene.
157b
Basic Science

Etiology of Down Syndrome ?
158a
Basic Science

trisomy 21, a chromosomal disorder dt the presence of all or
part of an extra 21 chromosome.
158b
Basic Science

Dx of Down syndrome in utero ?
159a
Basic Science

amniocentesis during pregnancy or in a baby at birth.
159b
Basic Science

Clinical picture of Down Syndrome ?
16 a
Basic Science

❂ 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

Cardiac complications of Down Syndrome ?
161a
Basic Science

◊ 【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

Other complications of Down Syndrome ?
162a
Basic Science

☆ Learning difficulties ☆ Short stature
☆ Repeated respiratory infections ( ↓hearing dt glue ear)
☆ 【Acute lymphoblastic leukemia 】 ☆ Hypothyroidism
☆ Alzheimer's
☆ Atlantoaxial instability
162b
Basic Science

Risk of Down's syndrome with increasing maternal age ?
163a
Basic Science

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

Etiology of Turner Syndrome ?
164a
Basic Science

◤ 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

Clinical picture of Turner Syndrome ?
165a
Basic Science

◤ 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

Etiology of Klinefelter Syndrome ?
166a
Basic Science

【Hypergonadotropic hypogonadism 】 ➜karyotype 47, XXY
166b
Basic Science

Clinical picture of Klinefelter Syndrome ?
167a
Basic Science

◥ 【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

Dx of Klinefelter Syndrome ?
168a
Basic Science

by chromosomal analysis ➜
(K)aryotyping = (K)linefelter
168b
Basic Science

Etiology of Kallman Syndrome ?
169a
Basic Science

◥ 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

Clinical picture of Kallman Syndrome ?
17 a
Basic Science

◥ 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

Etiology of Marfan Syndrome ?
171a
Basic Science

a defect in the fibrillin-1 gene on chromosome 15
autosomal dominant CT disease (fibrillin protein).
171b
Basic Science

Clinical picture of Marfan Syndrome ?
172a
Basic Science

◢ 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

Etiology of Noonan Syndrome ?
173a
Basic Science

' ♂ Turner's' ,autosomal dominant ,normal karyotype.
dt a defect in a gene on chromosome
12.
173b
Basic Science

Clinical picture of Noonan Syndrome ?
174a
Basic Science

✱ 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

Etiology of Fragile X ?
175a
Basic Science

trinucleotide repeat disorder, complex X-linked inheritance.
175b
Basic Science

Clinical picture of Fragile X ?
176a
Basic Science

❂ ♂ 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

Dx of Fragile X ?
177a
Basic Science

▨ 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

Etiology of Patau Syndrome ?
178a
Basic Science

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

Clinical picture of Patau Syndrome ? = Petit = 【MICROCEPHALY 】
179a
Basic Science

【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

Etiology of Edwards Syndrome ?
18 a
Basic Science

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

Clinical picture of Edwards Syndrome ?
181a
Basic Science

【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

Etiology of Prader-Willi Syndrome ?
182a
Basic Science

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

Clinical picture of Prader Willi Syndrome ?
183a
Basic Science

【"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

Clinical picture of vitamin A 〔Retinoids 〕deficiency ?
184a
Basic Science

【Night-blindness 】(nyctalopia)
184b
Basic Science

Clinical picture of vitamin B1 〔Thiamine 〕deficiency ?
185a
Basic Science

【Beriberi 】
Polyneuropathy, Wernicke-Korsakoff syndrome
Heart failure
185b
Basic Science

Clinical picture of vitamin B3
〔Niacin 〕(Nicotinic Acid) deficiency ? B3 = 3D
186a
Basic Science

【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

Clinical picture of vitamin B6 〔 Pyridoxine 〕deficiency ?
187a
Basic Science

Anemia, irritability, seizures
187b
Basic Science

Clinical picture of vitamin B7 〔Biotin 〕deficiency ?
188a
Basic Science

Dermatitis, seborrhoea
188b
Basic Science

Clinical picture of vitamin B9 〔Folic acid 〕deficiency ?
189a
Basic Science

【Megaloblastic anemia 】, deficiency during pregnancy - neural
tube defects
189b
Basic Science

Etiology of vitamin B12 deficiency ?
19 a
Basic Science

✩ 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

Clinical picture of vitamin B12 〔Cyanocobalamin 〕deficiency ?
191a
Basic Science

【Megaloblastic anemia 】 ▶Sore tongue and mouth
▶Neurological symptoms: e.g. Ataxia
,Subacute combined degeneration of spinal cord (SACD)
▶Neuropsychiatric symptoms: e.g. Mooddisturbances
191b
Basic Science

Rx of vitamin B12
〔Cyanocobalamin 〕deficiency ?
192a
Basic Science

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

Clinical picture of vitamin C 〔Ascorbic acid 〕deficiency ?
193a
Basic Science

↓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

Clinical picture of vitamin D 〔cholecalciferol 〕deficiency ?
194a
Basic Science

Rickets, osteomalacia (good source is cod liver oil)
194b
Basic Science

Etiology of Vitamin D-Resistant Rickets ?
195a
Basic Science

X-linked dominant (like Rett and Alport syndrome) ➜ presents in infancy with FTT.dt impaired phosphate reabsorption in the renal tubules
195b
Basic Science

Clinical picture of Vitamin D- Resistant Rickets ?
196a
Basic Science

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

Rx of Vitamin D-Resistant Rickets ?
197a
Basic Science

High-dose vitamin D supplements Oral phosphate supplements
197b
Basic Science

Clinical picture of Vitamin E 〔Tocopherol 〕deficiency ?
198a
Basic Science

Mild hemolytic anemia in newborn infants, ataxia, peripheral
neuropathy
198b
Basic Science

Clinical picture of Vitamin K
〔Naphthoquinone 〕deficiency ?
199a
Basic Science

Hemorrhagic disease of the newborn, bleeding diathesis
199b
Basic Science

Drugs which interfere with Folate metabolism ?
2
a Badrawy Notes For MRCP
Basic Science

✰ Trimethoprim ✰ Methotrexate ✰ Pyrimethamine
✰ Phenytoin ➜ can ↓ absorption
2
b Badrawy Notes For MRCP
Basic Science

Iron Absorption ?
2 1a
Basic Science

✰ 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

Iron Distribution in body ?
2 2a
Basic Science

✰ 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

Clinical picture of Zinc Deficiency ?
2 3a
Basic Science

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

Function of Endoplasmic reticulum ?
2 4a
Basic Science

★ (rough endoplasmic reticulum) ➜ Translation and folding of new proteins
★ (smooth endoplasmic reticulum) ➜ expression of lipids
2 4b
Basic Science

Function of Golgi apparatus ?
2 5a
Basic Science

SORTING and MODIFICATION of proteins
2 5b
Basic Science

Function of Mitochondria ?
2 6a
Basic Science

Energy production. Contains
mitochondrial genome as circular double stranded DNA
2 6b
Basic Science

Function of Nucleus ?
2 7a
Basic Science

DNA maintenance and RNA transcription
2 7b
Basic Science

Function of Lysosome ?
2 8a
Basic Science

= LYSE ➜ Breakdown of large
molecules such as PROTEINS and POLYSACCHARIDES
2 8b
Basic Science

Function of PROTEAsome ?
2 9a
Basic Science

large PROTEIN molecules
Breakdown (together with Lysosome)
2 9b
Basic Science

Function of Nucleolus ?
21 a
Basic Science

Ribosome production
21 b
Basic Science

Function of (R)ibosome ?
211a
Basic Science

(R)NA Translation into proteins
211b
Basic Science

Function of PEROxisome ?
212a
Basic Science

hydrogen PEROxide Breakdown
212b
Basic Science

G1 - Gap phase 1 - determines length of cell cycle - under influence of ?
213a
Basic Science

p53
213b
Basic Science

Types of Membrane Receptors ?
214a
Basic Science

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

α ₁ Adrenoreceptor ➜ Agonist & function ?
215a
Basic Science

❁ (Agonist ➜ phenylephrine) ❐ Vasoconstriction
❐ Relaxation of GI smooth muscle ❐ Salivary secretion
❐ Hepatic glycogenolysis
215b
Basic Science

α ₂ Adrenoreceptor ➜ Agonist & function ?
216a
Basic Science

❁ (Agonist ➜ clonidine)
❐ Mainly presynaptic:(-) transmitter release (NA, Ach from autonomic nerves)
❐ Inhibits insulin
❐ Platelet aggregation
216b
Basic Science

β ₁ Adrenoreceptor ➜ Agonist & function ?
217a
Basic Science

❁ (Agonist ➜ dobutamine) ❐ Mainly located in the heart ❐ ↑ heart rate + force
217b
Basic Science

β ₂ Adrenoreceptor ➜ Agonist & function ?
218a
Basic Science

❁ (Agonist ➜ salbutamol) ❐ Vasodilation
❐ Bronchodilation
❐ Relaxation of GI smooth muscle
218b
Basic Science

β ₃ Adrenoreceptor ➜ Agonist & function ? ₃
219a
Basic Science

( ❁ Agonist ➜ being developed, may have a role in preventing obesity) ❐ Lipolysis
219b
Basic Science

General Criteria of Adrenoceptors ?
22 a
Basic Science

All are G-protein coupled
α ₁:(+) phospholipase C ⇨ IP3 ⇨ DAG α ₂: (-) adenylate cyclase
β ₁: (+) adenylate cyclase β ₂: (+) adenylate cyclase β ₃: (+) adenylate cyclase
22 b
Basic Science

Function of Second Messengers ?
221a
Basic Science

amplification of external stimulus
221b
Basic Science

Types of Second Messengers ?
222a
Basic Science

□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 phosphoinositidesE.g. ADH, GnRH, TRH
□Cyclic GMP
E.g. ANP, nitric oxide
222b
Basic Science

Molecular biology techniques 〖Snow Drop 〗?
223a
Basic Science

(South - NOrth - West) (BLOTTING) (DNA - RNA - Protein)
223b
Basic Science

Uses of Polymerase Chain Reaction (PCR) ?
224a
Basic Science

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

Uses of Reverse transcriptase PCR ?
225a
Basic Science

▤ 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

Strucures passing through Optic canal ?
226a
Basic Science

Ophthalmic A. Optic nerve (II)
226b
Basic Science

Strucures passing through Superior orbital fissure ?
227a
Basic Science

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

Strucures passing through Inferior orbital fissure ?
228a
Basic Science

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

Strucures passing through Foramen Rotundum ?
229a
Basic Science

Maxillary nerve (V2)
229b
Basic Science

Strucures passing through Foramen Ovale ?
23 a
Basic Science

Accessory meningeal A. Mandibular nerve (V3)
23 b
Basic Science

Strucures passing through Jugular Foramen ?
231a
Basic Science

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

anatomical relations of the Rt kidneys ?
232a
Basic Science

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

anatomical relations of the Lt kidneys ?
233a
Basic Science

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

five layers of the Epidermis ?
234a
Basic Science

★ 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

Phase 0 Myocardial Action Potential ?
235a
Basic Science

Rapid depolarisation dt Rapid sodium influx
These channels automatically deactivate after a few ms
235b
Basic Science

236a
Basic Science

Early repolarisation dt Efflux of potassium
236b
Basic Science

237a
Basic Science

Plateau dt Slow influx of calcium
237b
Basic Science

238a
Basic Science

Final repolarisation dt Efflux of potassium
238b
Basic Science

239a
Basic Science

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

Atrial Conduction velocity ?
24 a
Basic Science

1 m/sec
24 b
Basic Science

AV node Conduction velocity ?
241a
Basic Science

0.05 m/sec
241b
Basic Science

Ventricular Conduction velocity ?
242a
Basic Science

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

Mechanism of action of Antidiuretic hormone ?
243a
Basic Science

ADH is secreted from the posterior pituitary ➜ water reabsorption in the collecting ducts dt insertion of AQUAPORIN-2 CHANNELS
243b
Basic Science

The adrenal medulla resembles what ?
244a
Basic Science

a specialised sympathetic ganglion secretes adrenaline + small amounts of noradrenaline
244b
Basic Science

Wegner's causes glomerulonephritis by crescent formation. Distinguished from other types by ?
245a
Basic Science

absence of immune deposits on immune -histochemical analysis.
245b
Basic Science

Most reliable features of D.M-1 presentation ?
246a
Basic Science

weight loss
246b
Basic Science

rate limiting enzyme in glycolysis and gluconeogenesis ?
247a
Basic Science

Pyruvate kinase
Its deficiency results in hereditary hemolytic anemia.
247b
Basic Science

Pyramidal Tract lesion (UMN lesion) in the upper & lower limbs ?
248a
Basic Science

affects extensors in U- limbs and flexors in lower limbs (knee flexion).
248b
Basic Science

Lipid Profile in Diabetics ?
249a
Basic Science

Increased TG, Decreased HDL, Normal LDL.
249b
Basic Science

Sensation of Fecal control ?
25 a
Basic Science

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

Hb- Electrophoresis of sickle patients show ?
251a
Basic Science

No Hb-A, 2-20 % Hb-F, 80-96% Hb-
S.
251b
Basic Science

Isotope suppression (Decreased other immune globulins) and light chains in urine only seen in ?
252a
Basic Science

Myeloma.
252b
Basic Science

Most early biochemical change to occurs in primary Hypothyroidism ?
253a
Basic Science

Increased TSH.
253b
Basic Science

Immunity against bacteria is mainly provided by ?
254a
Basic Science

Beta - cells (Humoral immunity)
254b
Basic Science

Immunity against intracellular organisms (Mycobacterium) by ?
255a
Basic Science

T-cells (cellular immunity).
255b
Basic Science

Knee extension mediated by ?
256a
Basic Science

L2, L3, L4.
256b
Basic Science

Ankle dorsiflexion mediated by ?
257a
Basic Science

L4, L5.
257b
Basic Science

Ankle plantar flexion & Great toe extension mediated by ?
258a
Basic Science

S1, S2.
258b
Basic Science

Eversion of foot mediated by ?
259a
Basic Science

S1.
259b
Basic Science

Inversion of foot mediated by ?
26 a
Basic Science

L4.
26 b
Basic Science

Lumbar disk prolapse mostly affects which roots ?
261a
Basic Science

L4/L5 and L5/S (Sudden weight lifting).
261b
Basic Science

Genital itching after condom use, itching perioral region after blowing up balloons ?
262a
Basic Science

Latex allergy/ Rubber allergy
(Bananas, Avocados, Kiwi fruits also cause rubber allergy).
262b
Basic Science

motor supply to the intrinsic muscles of the hand which dermatome ?
263a
Basic Science

(C8, T1) , if affected ➜ weakness of the hand muscles ➜ Klumpke's paralysis.
263b
Basic Science

movements of the shoulder and
elbow supplied by which dermatome ?
264a
Basic Science

C6 and C7
264b
Basic Science

The[[[[[[ is required for normal positioning of the arm ?
265a
Basic Science

radial nerve
265b
Basic Science

[[[[[lesion affects the small
muscles of the hand and wrist flexion but not the positioning of the arm ?
266a
Basic Science

proximal ulnar nerve
266b
Basic Science

Dx Ab in primary biliary cirrhosis ?
267a
Basic Science

【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

Factors affecting expression of aquaporin 2 proteins ?
268a
Basic Science

✯ 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
Basic Science

Lab value most suggestive of CRF (not for ARF) ?
269a
Basic Science

Hypocalcemia.
269b
Basic Science

Tail of pancreas lies interiorly in direct contact with[[[[[ without separation by visceral peritoneum ?
27 a
Basic Science

left kidney
27 b
Basic Science

Botulinum Toxin A and E
cleaves[[1[[ and Botulinum Toxin C cleaves [[[2[[[
271a
Basic Science

1- SNAP-25 2- syntaxin.
271b
Basic Science

[[1[[activates classical complement pathway. [[2[[ activates Alternative complement pathway.
272a
Basic Science

1- IgG/IgM 2- IgA
272b
Basic Science

Most specific finding that indicates metabolic alkalosis ?
273a
Basic Science

Raised plasma bicarbonate
concentration (Not high Arterial pH).
273b
Basic Science

monoclonal antibodies against IL-2 (prevent T-cell
proliferation) ?
274a
Basic Science

Basiliximab and Daclizumab
274b
Basic Science

Infection with hemophilus influenza and strep pneumonia (not strep. Pyogenes) ?
275a
Basic Science

indicates
hypogammaglobulinemia.
275b
Basic Science

T-cell deficiencies is associated with which infections ?
276a
Basic Science

Pneumocystis jiroveci, viral and candida infections, HIV
276b
Basic Science

Respiratory central chemoreceptors are located in[[1[[ and responds directly to CSF [[2[[ion
concentration ?
277a
Basic Science

1- medulla 2-hydrogen
277b
Basic Science

Respiratory peripheral
chemoreceptors are located in[[1[[ responds to decreased [[2[[
concentration ?
278a
Basic Science

1-(Aortic body in wall of arch of aorta, carotid body in right / left common carotid arteries)
2- O2
278b
Basic Science

Inspiration controlled by
[[1[[medulla and expiration by [[2[[medulla ?
279a
Basic Science

1-dorsal 2-ventral
279b
Basic Science

DiGeorge syndrome mnemonic ?
28 a
Basic Science

☆ Cardiac Abnormality (especially tetralogy of Fallot)
☆ Abnormal facies
☆ Thymic aplasia /T cell deficiency ☆ Cleft palate
☆ Hypocalcemia/Hypoparathyroidism. 【Convulsions + cardiovascular defects + opportunistic infections 】
28 b
Basic Science

[[[%[loss of Dopamine occurs prior to emergence of Parkinsonism
symptoms ?
281a
Basic Science

60-70%
281b
Basic Science

Recurrent infections with pneumocystis carinii causes ?
282a
Basic Science

Hyper IgM Syndrome. (Increased IgM, Decreased IgA and IgG - Decreased Beta cell activation due to T-cell defect).
282b
Basic Science

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
Basic Science

Von Hippel Lindau Syndrome. DNA analysis will detect VHL gene
mutation in 90% of cases.
283b
Basic Science

Most serious complication of NF-1 is ?
284a
Basic Science

hypertension due to Renal Artery Stenosis, pheochromocytoma or malignant transformation of
neurofibromas.
284b
Basic Science

confirmatory test for contact dermatitis is [[[[ ?
285a
Basic Science

patch test (Type 4 Hypersensitivity)
285b
Basic Science

TPN patient suddenly gets drowsy in emergency with abnormal electrolytes ?
286a
Basic Science

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
Basic Science

Random cortisol levels should be measured in cushing syndrome at what time ?
287a
Basic Science

2400 hour (midnight).
287b
Basic Science

Anticipation is due to ?
288a
Basic Science

expansion of Triplet repeats.
288b
Basic Science

Bradycardia in patients with B/L ptosis ?
289a
Basic Science

Myotonic dystrophy
289b
Basic Science

Redox process (hydrogen, transfer chain in mitochondria) and production of ATP requires[[[[ ?
29 a
Basic Science

Riboflavin.
29 b
Basic Science

V/Q Ratio high (PaO2 high and PaCO2 low) at ?
291a
Basic Science

Apex of Lung
291b
Basic Science

Rx of Metabolic alkalosis Secondary to NG aspiration /Vomiting ?
292a
Basic Science

normal saline is best choice. Ringer lactate exacerbates the alkalosis.
292b
Basic Science

Ehler's Danlos Syndrome Type [[ collagen defect ?
293a
Basic Science

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
Basic Science

Hereditary angioedema patient presents with [[1[[ They don't get[[2[[ They are resistant to [[3[[.
Immediate management would be [[4[[
294a
Basic Science

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
Basic Science

Finding suggestive of CRF (Not present in ARF) ?
295a
Basic Science

Small kidney's on ultrasound.
295b
Basic Science

During normal inspiration
Diaphragm drops by [[1[[, and
negative pressure of [[2[[is created.
296a
Basic Science

1- 1cm
2- 1-3 mm Hg
296b
Basic Science

During strenuous exercise Diaphragm drops by
[[[[(inspiration).
297a
Basic Science

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