AIPGME 3rd counselling result

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Glycogen Storage Disease

Number	Enzyme deficiency	Eponym	Hepato megaly	Muscle symptoms	Develop- ment/ prognosis	Other symptoms
GSD type I	glucose-6- phosphatase	von Gierke's disease	Yes	None	Growth failure	Lactic acidosis, hyperuri- cemia
GSD type II	acid maltase	Pompe's disease	Yes	Muscle weakness	Death by 2 years (infantile variant)	heart failure
GSD type III	glycogen debrancher	Cori's disease or Forbes' disease	Yes	Myopathy
GSD type IV	glycogen branching enzyme	Andersen disease	Yes, also cirrhosis	None	Failure to thrive, death at ~5 years
GSD type V	muscle glycogen phospho-rylase	McArdle disease	No	Exercise induced cramps Rhabdo-myolysis		Renal failure by myoglobin- uria
GSD type VI	Liver -glycogen phospho-rylase	Hers' disease	Yes	None
GSD type VII	muscle phospho- fructokinase	Tarui's disease	No	Exercise- induced muscle cramps and weakness	growth retardation	Haemo-lytic anaemia
GSD type IX	Phospho-rylase kinase, PHKA 2	–	No	None	Delayed motor develop-ment, Growth retarda- tion
GSD type XI	glucose transporter, GLUT 2	Fanconi- Bickel syndrome	Yes	None

 

• Hyperlipidemia is seen in GSD Type I,III and IX.
  
• Hypoglycemia is seen in GSD Type I,III,VI,XI.

Genetic associations of some carcinomas

Gene	Disease
Trk A gene	Neuroblastoma (good prognosis)
RET proto oncogene	Medullary carcinoma thyroid
Rb gene (13q14)	Retinoblastoma
BRCA1	Ca breast (females)Ca ovary
APC gene	Familial adenomatous polyposis coli
Chromosome 3	Renal cell carcinoma
Trisomy 17, 7, 16, loss of y	Papillary renal carcinoma
11p13 WT-1	Wilm's tumor
Xp21	Duchenne muscular dystrophy
APP gene	Alzheimer's disease

Related articles

• Kidney Cancer Risk Factors (cancercenter.com)


• Renal Cell Carcinoma Cancer Types, Therapy & Diagnosis (cancercenter.com)

Systematic effects of Inhalational Agents:

• Maximum depression of respiration: ENFLURANE.
• Maximum bronchodilation in non-asthmatics: SEVOFLURANE.
• Non inhibitor of ciliary activity (reduced coughing out of secretions): ETHER.
• Maximum nephrotoxicity: METHOXYFLURANE.
• Agent causing maximum muscle relaxation: DESFLURANE.
• Agent causing maximum analgesia: TRIELENE.
• Agent causing maximum hyperglycemia: CHLOROFORM.
• Maximum inhibition to ventilator response: HALOTHANE.
• Maximum bronchodilation in asthmatics: HALOTHANE. (agent of choice in asthmatics)
• Inhibition of myocardial contractily: HALOTHANE.
• Maximum hepatocellular damage: HALOTHANE.
• Maximum sensitization of heart to adrenaline: HALOTHANE.
• Best maintenance of cardiac output: ISOFLURANE (agent of choice in cardiac patients)
• Maximum hypotension: ISOFLURANE.
• Agent causing megaloblastic and aplastic anemia: NITROUS OXIDE.
• Agent causing Sub-acute combined degeneration of spinal cord: NITROUS OXIDE.