Anticipation in genetics refers to an increase in severity and decrease in age of onset in successive generations, most likely due to increased size of trinucleotide repeats. Paternal anticipation: Huntington’s disease, Friedreich’s Ataxia Maternal anticipation: Myotonic dystrophy, Fragile X syndrome Diseases Trinucleotide Repeat Affected gene Chromosome Fragile X syndrome CGG…
Author: Epomedicine
PGMEE, MRCS, USMLE, MBBS, MD/MS
Solving Pedigree Analysis in 3 steps
First: Look for Mitochondrial Inheritance Female transmits disease to all the offsprings (both males and females). Male doesn’t transmit the disease and only the females transmit the disease. If Mitochondrial inheritance is absent, go to second step. Second: Look if the gene is Dominant, Recessive Dominant: Atleast one member in…
PGMEE, MRCS, USMLE, MBBS, MD/MS
Glucose 6 Phosphate : Central to Glucose Metabolism
Glucose-6-Phosphate central to the 4 major metabolic pathways of glucose, i.e. glycolysis, gluconeogenesis, glycogenesis, glycogenolysis and HMP shunt (Pentose phosphate pathway). Glucose is immediately phosphorylated inside the cells to Glucose-6-Phsophate to trap them inside cell and prevent diffusion out of the cell. Glucose-6-Phosphate is the key intermediate to understand the…
PGMEE, MRCS, USMLE, MBBS, MD/MS
Granular contents of Neutrophils and Platelets
Neutrophil Granules Azurophilic (Primary) Granules These are lysosomes that occur in all granulocytes, as well as in lymphocytes and monocytes. In addition to expected lysosomal hydrolases, they also contain peroxidases (used to demonstrate azurophilic granules chemically). Develop earlier than specific granules. Stains blue/purple by Romanowsky stain. Mnemonic: ABCDE MnOP Acid hydrolase…
PGMEE, MRCS, USMLE, MBBS, MD/MS
Morphology of Granuloma
Concentric layers of Granuloma There are 4 concentric layers in a granuloma, however the clear distinction is difficult in reality due to overlapping. From inside to out: 1. Necrosis Caseating necrosis: Tuberculosis, Leprosy Coagulative necrosis: Buruli ulcer (M.ulcerans), Gumma containing central blood vessels (Syphilis) Fibrinoid necrosis: Aschoff bodies (Rheumatic granuloma),…
Clinical Skills and Approaches
Milkmaid’s grip in Chorea
Milkmaid’s Grip Milk maids grip is appreciated as an alternating squeezing and releasing of the finger like a milking motion, when asked to maintain a constant, firm grip of examiner’s fingers. This may reflect a combination of Chorea and Motor impersistence. As a result of poor grip, patients often involuntarily…
PGMEE, MRCS, USMLE, MBBS, MD/MS
Tissue Specific and Named Macrophages
Subtle differences in the morphology and functions of macrophages develop as a result of the influence of a particular microenvironment. Appearance of macrophages to histologists have been described as a kind of mythological Proteus, “a creature who had the power of changing his appearance at will”. The life-span of these fixed…
Clinical Skills and Approaches
Ascitic Paracentesis : Practical Essentials
Absolute contraindications to Ascitic Tapping (Paracentesis) While some authors have claimed ascitic paracentesis to be free from absolute contraindications, others have listed following as absolute contraindications: Clinically evident fibrinolysis Disseminated Intravascular Coagulation (DIC) Clinically apparent oozing from needle sticks Acute abdomen requiring surgery Relative contraindications to Blind Paracentesis Ultrasound guided…