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Quick Scroll IMP Last Minute Revision 06.06.06 (2 years ago) #1

AUTOSOMAL DOMINANT SYNDROMES

- Familial Hypercholesterolemia
-Hereditary Haemorrhagic Telengectasia
-HOCM
-Noonan's Syndrome
-Achondroplasia
-Icthyosis Vulgaris
-Hereditary Angioneurotic Oedema
-Osteogenesis Imperfecta
-Fascio-scapulo-humeral muscular dystrophy
-Gilbert's Syndrome
-Crigler-Najjar Type2
-Adult Polycystic Kidney Disease
-Hereditary Spherocytosis
-Acute Intermittent Porphyria
-Huntington's Chorea
-Tuberous sclerosis
-Hyperlipoproteinemia Type2
-Marfan's Syndrome
-Myotonia congenita
-Hereditary Polyposis Coli
-Neurofibromatosis 1
-Von-Willebrand's disease
-Retinoblastoma
-Hereditary Non-Polyposis Colon Carcinoma
-Von-Hippel-Lindau Syndrome
-MEN 1 &2
-Antithrombin 3 deficiency
-Factor V Leiden Mutation
-Amyloidosis


X-LINKED DOMINANT SYNDROMES

-Vitamin-D resistant Rickets
-abry's Disease
-Pseudo-Pseudo Hyperparathyroidism (some cases)
-Oro-Fascio-Digital Syndrome
-Incontinentia Pigmenti
-Coffin-Lowry Syndrome
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Quick Scroll 06.06.06 (2 years ago) #2

AUTOSOMAL RECESSIVE SYNDROMES

-Cystic Fibrosis
-Phenylketonuria
-Homocystinuria
-Deafness
-Neiman-Pick Disease
-Tay-Sach's
-Wilson's
-Hurler's
-Galactosemis
-Glycogen storage disease type 1-8
-Dubin-Johnson's
-Crigler-Najjar Type1
-Gaucher's
-Fanconi's Syndrome
-Sickle cell anemia
-Alpha Thalassemia
-Beta Thalassemia
-Pendred's Syndrome
-Freidrich's Ataxia
-Congenital Cretinism
-Ataxia-Telengiectasia
-Infantile Polycystic Kidney
-Generalised Albinism
-Alpha1 Anti-trypsin deficiency
-Haemochromatosis
-Mucopolysaccharidosis 1-7
-Congenital Adrenal Hyperplasia
-Psedo-cholinesterase deficiency

X-LINKED RECESSIVE

-Ocular Albinism
-Menke's Disease
-Nephrogenic Diabetes Insipidus
-Colour Blindness
-Haemophilia
-Christmas Disease
-Hunter's Syndrome
-Duchenne's Muscular Dystrophy
-G6PD deficiency
-Lesch-Nyhan Syndrome
-Wiskott-Aldrich Syndrome
-Bruton's Agammaglobulinemia
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Quick Scroll 06.08.06 (2 years ago) #3

NAMED BACTERIA

1.Johne Bacillus- Mycobacterium paratuberculosis

2.Battey Bacillus- Mycobacterium intracellulare

3.Koch’s Bacillus- Mycobacterium tuberculosis

4.Much’s Granules- Non-acidfast forms of tubercle bacilli

5.Hansen’s Bacillus- Mycobacterium leprae

6.Eaton Agent / Pleuro-Pneumonia Like Organism (PPLO)- Mycoplasma
pneumoniae

7.Friedlander’s Bacillus- Klebsiella pneumoniae

8.Abel’s Bacillus- Klebsiella ozaenae

9.Frisch’s Bacillus- Klebsiella rhinoscleromatis

10.Kleb-Loeffler’s Bacillus- Corynebacterium diptheriae

11.Priez-Nocard Bacillus- Corynebacterium psedotuberculosis

12.Hoffman’s Bacillus- Corynebacterium pseudodiptheriticum

13.Sach’s Bacillus- Clostridium septicum

14.Nicholaire’s Bacillus- Clostridium tetani

15.Eberth-Gaffky’s Bacillus- Salmonella typhi

16.Doderlein’s Bacillus- Lactobacillus

17.Pfeiffer’s Bacillus- Haemophilus influenzae

18.Koch-Week’s Bacillus- Haemophilus aegypticus

19.Whitmore’s Bacillus- Pseudomonas pseudomallei

20.Vincent’s Bacillus- Borrelia vincenti

21.Micrococcus- Staphalococcus saprophyticus

22.Morax-Axenfield’s Bacillus- Moraxella lacunata

23.Bordet-Gengou Bacillus- Bordetella pertusis

24.Piroplasma- Babesia microti
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Quick Scroll 06.08.06 (2 years ago) #4

CHROMOSOMAL TRANSLOCATIONS IN VARIOUS TUMOURS


11-14 (q13-q32) – MANTLE CELL LYMPHOMA

11-22 – EWING’S SARCOMA, PRIMITIVE NEUROECTODERMAL TUMOURS (PNET)

12-22 – CLEAR CELL SARCOMA, MELANOMA OF SOFT PARTS

14-18 (q32-q21) – FOLLICULAR LYMPHOMA

15-17 – AML-M3 (acute promyelocytic leukemia)

2-13 – ALVEOLAR RHABDOMYOSARCOMA

3-8 – MIXED PAROTID TUMOUR, RENAL ADENOCARCINOMA

4-11 (q21-q23) – AML

6-11 (q27-q23) – ALL

6-14 – CYSTADENOCARCINOMA OVARY

8-14 – BURKITT’S LYMPHOMA, ALL-L3

8-14 / 10-14 – T CELL ACUTE LYMPHOBLASTIC LEUKEMIA

8-21 – AML-M2

9-22 (q34-q11) – CML (Philadelphia Chromosome), AML-M1

X-18 – SYNOVIAL SARCOMA
____________________________________________________________________

IMMUNOPHENOTYPIC PATTERNS OF LYMPHOID NEOPLASMS

AML-M2 - CD13, CD33, CD34

AML-M0 - CD13, CD33

T-ALL – CD2, CD3, CD5, CD7

B-ALL – CD19, CD20, CD22, CD24

Small Lymphocytic Leukemia - CD5, CD23

Chronic Lymphocytic Leukemia – CD10, Increased levels of surface Ig

Diffuse Large B-Cell Lymphoma – CD5, CD10, Surface Ig, Tdt negative

Burkitt’s Lymphoma – CD10, Surface IgM

Multiple Myeloma – CD38, Cytoplasmic Ig

Mantle Cell Lymphoma – CD5, IgM, IgD

Hairy Cell Leukemia – CD11c, CD25, Surface Ig

Mycosis Fungoides / Sezary Syndrome – CD4
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Quick Scroll 06.10.06 (2 years ago) #5

Rueeta wrote:
CHROMOSOMAL TRANSLOCATIONS IN VARIOUS TUMOURS


11-14 (q13-q32) – MANTLE CELL LYMPHOMA

11-22 – EWING’S SARCOMA, PRIMITIVE NEUROECTODERMAL TUMOURS (PNET)

12-22 – CLEAR CELL SARCOMA, MELANOMA OF SOFT PARTS

14-18 (q32-q21) – FOLLICULAR LYMPHOMA

15-17 – AML-M3 (acute promyelocytic leukemia)

2-13 – ALVEOLAR RHABDOMYOSARCOMA

3-8 – MIXED PAROTID TUMOUR, RENAL ADENOCARCINOMA

4-11 (q21-q23) – AML

6-11 (q27-q23) – ALL

6-14 – CYSTADENOCARCINOMA OVARY

8-14 – BURKITT’S LYMPHOMA, ALL-L3

8-14 / 10-14 – T CELL ACUTE LYMPHOBLASTIC LEUKEMIA

8-21 – AML-M2

9-22 (q34-q11) – CML (Philadelphia Chromosome), AML-M1

X-18 – SYNOVIAL SARCOMA
____________________________________________________________________

IMMUNOPHENOTYPIC PATTERNS OF LYMPHOID NEOPLASMS

AML-M2 - CD13, CD33, CD34

AML-M0 - CD13, CD33

T-ALL – CD2, CD3, CD5, CD7

B-ALL – CD19, CD20, CD22, CD24

Small Lymphocytic Leukemia - CD5, CD23

Chronic Lymphocytic Leukemia – CD10, Increased levels of surface Ig

Diffuse Large B-Cell Lymphoma – CD5, CD10, Surface Ig, Tdt negative

Burkitt’s Lymphoma – CD10, Surface IgM

Multiple Myeloma – CD38, Cytoplasmic Ig

Mantle Cell Lymphoma – CD5, IgM, IgD

Hairy Cell Leukemia – CD11c, CD25, Surface Ig

Mycosis Fungoides / Sezary Syndrome – CD4


____________________________________________________________________
To add to your list of Immunophenotypes here is a list of enzymes & stains for the Leukemias. It is asked in case profile where this might be one of the Investigation listed & you have to identify the stage or type..

ENZYMES IN LEUKEMIAS

AML- MYELOPEROXIDASE, CHLOROACETATE ESTERASE, SUDAN BLACK-B

M2, M4, M5- NON-SPECIFIC ESTERASE

M6- PAS

M7- PLATELET PEROXIDASE

ALL (T/B)- ACID PHOSPHATASE

ALL / ERYTHROBLASTS- PAS

CML vs LEUKEMOID REACTION- ALKALINE PHOSPHATASE -VE IN CML
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Quick Scroll 06.10.06 (2 years ago) #6

Here is something from Anatomy ...

MUSCLES WITH DUAL NERVE SUPPLY

Adductor Magnus: - Post. Division of Obturator + Tibial part of Sciatic

Biceps Femoris: Long Head-Tibial : Short Head-Sciatic

Brachialis: - Musculocutaneous + Radial

Digastric: Ant. Belly-Mandibular : Post. Belly-Facial

Flexor Digitorum Profundas: Medial 1/2-Ulnar : Lateral 1/2-Anterior Interosseous Br. of Median

Flexor Pollicis Brevis: Superficial head-Median Nr : Deep Head-Deep Branch of Ulnar Nr

Inferior Constrictor: Thyropharyngeus-Recurrent Laryngeal : Cricopharyngeus-External Laryngeal

Levator Palpaebrae Superioris: - Occulomotor + Sympathetic to Muller's Muscle

Levator Scapulae: - Dorsal scapular Nr + Branch from Nr. to Rhomboids (C3-4-5)

Lumbricals: 1&2-Median : 3&4-Ulnar

Pectineus: Ant. Fibers-Femoral : Post. Fibers-Ant. Division of Obturator or Accessory Obturator Nr

Pectoralis Major & Minor: - Medial & Lateral Pectoral Nrs

Sternocleidomastoid: - Spinal Accessory (motor) + Ventral Rami of C2 (proprioceptive)

Trapezeus: - spinal accesory Nr + C3, C4 roots
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Quick Scroll 06.10.06 (2 years ago) #7

Here are some things from Biochemistry . I found them very volatile & hence kept them for the Last Day Revision...

ENZYMES & THEIR INHIBITORS

ACONITASE => Fluroacetate

ALPHA-KETOGLUTARATE DEHYDROGENASE => Arsenite

SUCCINATE DEHYDROGENASE => Malonate

GLYCERALDEHYDE-3-PHOSPHATE-DEHYDROGENASE => Iodoacetate

ENOLASE => Fluoride


RATE LIMITING ENZYMES

GLYCOGENESIS => Glycogen synthetase

GLYCOGENOLYSIS => Phosphorylase

GLYCOLYSIS => Phosphofructokinase

GLUCONEOGENESIS => Phosphoenolpyruvate carboxykinase, Fructose-1-6-biphosphatase

FATTY ACID SYNTHESIS => Acetyl CoA carboxylase

CHOLESTEROL SYNTHESIS => HMG CoA reductase

BILE ACID SYNTHESIS => 7-alpha-hydroxylase

UREA SYNTHESIS => Carbamoyl phosphate synthetase, Ornithine transcarbamoylase

PORPHYRIN SYNTHESIS => Delta-aminolevulinate synthetase

URIC ACID SYNTHESIS => Xanthine oxidase

PURINE BIOSYNTHESIS => Phosphoribosyl prophosphate synthetase

TCA => Citrate synthetase

HMP => Glucose-6-phosphate-dehydrogenase
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Quick Scroll 06.10.06 (2 years ago) #8

Wow Jidnyasa Thanks for the inputs. They r just great.
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Quick Scroll 06.10.06 (2 years ago) #9

NEUROCHANNELOPATHIES

POTASSIUM CHANNELS-
1) Episodic Ataxia 1
2) Benign neonatal FAMILIAL Convulsions
3) Jervell-Lange-Neilson Syndrome
4) Autosomal Dominant Progressive Deafness

SODIUM CHANNELS-
1) Generalized Epilepsy with Febrile Convulsions
2) Hyperkalemic Periodic Paralysis
3) Normokalemic Periodic Paralysis
4) Paramyotonia Congenita

CALCIUM CHANNELS-
1) Episodic Ataxia 2
2) Spinocerebellar Ataxia 6
3) FAMILIAL Hemiplegic Migraine
4) Hypokalemic Periodic Paralysis
5) Malignant Hyperthermia

CHLORIDE CHANNELS-
1) Generalized Myotonia of Becker
2) Myotonia Congenita of Thomsen
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Quick Scroll 06.10.06 (2 years ago) #10

Hi Rueeta, Hi Jidnyasa!! Seems that you are the only two people wanting to help others. I don't know much about the other subjects but here is something from Paediatrics that people might find useful-

BODY / URINE ODOURS IN DISEASES

Glutaric Acidemia Type2- sweaty feet/acrid odour
Isovaleric Acidemia- cheesy odour (also u might find above two mentioned)
Hawkinsinuria- swimming pool odour
Maple Syrup Urine Disease- maple syrup/burnt sugar odour
Hypermethionemia- boiled cabbage odour
Multiple Carboxylase Deficiency- tomcat urine odour
Oasthouse Urine Disease- hops-like odour
Phenylketonuria- mousy/musty odour
Trimethyl-Methylamineuria- rotting fish odour
Tyrosenemia- boiled cabbage in rancid butter odour

(Don't u think the people who actually named all that must be highly creative) icon_wink.gif
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