Medical constellations sample
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This document contains lists of medical terms organized by category including chromosomes, circles, named diseases, laws, maneuvers, locations of receptors, signs, syndromes, tests, triads/pentads, triangles, and vertebral levels. It provides brief descriptions and key details about genetic disorders associated with specific chromosomes. Named diseases are identified with their eponym, associated symptoms and defining clinical features. Common anatomical circles are defined along with their component arteries.
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Medical constellations sample
- 2. MEDICAL CONSTELLATIONS www.medpgnotes.com 1 Contents CHROMOSOMES.................................................................................................................................................................................................................................................2 CIRCLES.................................................................................................................................................................................................................................................................6 NAMED DISEASES .............................................................................................................................................................................................................................................7 LAWS ................................................................................................................................................................................................................................................................... 12 MANEUVRER.................................................................................................................................................................................................................................................... 15 LOCATION OF RECEPTORS......................................................................................................................................................................................................................... 17 SIGNS................................................................................................................................................................................................................................................................... 20 SYNDROMES..................................................................................................................................................................................................................................................... 28 TESTS................................................................................................................................................................................................................................................................... 54 TRIADS AND PENTADS ................................................................................................................................................................................................................................ 67 TRIANGLES........................................................................................................................................................................................................................................................ 75 VERTEBRAL LEVELS..................................................................................................................................................................................................................................... 80
- 3. MEDICAL CONSTELLATIONS www.medpgnotes.com 2CHROMOSOMES CHROMOSOMES CHROMOSOME 1 Alzheimer’s Disease (Presenilin 2, PS 2) Steroid Resistant Nephrotic Syndrome NPHS2 (Podocin) Neuroblastoma(1p Deletion) Rh antigen CHROMOSOME 2 Unipolar Depression CHROMOSOME 3 Renal Cell Carcinoma Clear Cell Carcinoma 3p deletion CHROMOSOME 4 Huntington Chorea (Huntingtin) CHROMOSOME 5 Familial Adenomatous Polyposis (APC Gene 5q) MC Cytogenetic change in Myelodysplastic Syndrome – Deletion of 5q CHROMOSOME 6 Major Histocompatibility Complex Myelodysplastic Syndrome in Adults 6q Deletion CHROMOSOME 7 Pendred Syndrome 7q Cystic fibrosis (CFTR gene) Myelodysplastic Syndrome in children (Monosomy 7) Familial Renal Papillary Carcinoma (Trisomy 7) CHROMOSOME 9
- 4. MEDICAL CONSTELLATIONS www.medpgnotes.com 3CHROMOSOMES SUPERFICIAL PAPILLARY BLADDER CANCER(9p DELETION) CHROMOSOME 11 WAGR Syndrome (11p13 Deletion) Beckwidth Wiedmann Syndrome (11p15 Deletion) Ataxia Telangiectasia Gene AT Gene For β-Chain of Hemoglobin CHROMOSOME 13 Wilson’s Disease (ATP7B) Retinoblastoma (13q14 deletion) Osteosarcoma Patau Syndrome Friedrich’s Ataxia (Frataxin) Multiple Myeloma 13q Deletion BRCA 2 CHROMOSOME 14 Alzemier’s Disease (Presenilin 1,PS 1) Chromosome affected in Ataxia Telangiectasia (Breaks) Multiple Myeloma (14q Translocation) CHROMOSOME 15 Development of Diaphragm 15q Prader Will Syndrome (15q deletion) Angelmann syndrome Marfan’s syndrome CHROMOSOME 16
- 5. MEDICAL CONSTELLATIONS www.medpgnotes.com 4CHROMOSOMES Gene For α-Chain of Hemoglobin Adult Polycystic Kidney disease APKD gene CHROMOSOME 17 BRCA 1 P53 NF1 Medulloblastoma 17q Duplication Invasive Bladder Cancer(17p Deletion) CHROMOSOME 18 Bipolar Disorder 18q Edward Syndrome CHROMOSOME 19 Alzheimer’s Disease (apo E4) Nephrotic Syndrome (Finnish) NPHS 1(Nephrin) CHROMOSOME 21 Alzheimer’s Disease (APP-Amyloid Precursor Protein) Down’s syndrome Folate Cofactor Biosynthesis CHROMOSOME 22
- 6. MEDICAL CONSTELLATIONS www.medpgnotes.com 5CHROMOSOMES DIGEORGE SYNDROME (22q11 deletion) Bipolar Disorder 22q NF2 Cat’s eye Syndrome Meningioma 22q12 deletion (MC) CHROMOSOME X Androgen Receptors (Long arm) CHROMOSOME Y SRY GENE (SHORT ARM)
- 7. MEDICAL CONSTELLATIONS www.medpgnotes.com 6CIRCLES CIRCLES CIRCLE OF PAIN (CORONA MORTIS) Vascular ring formed by Common Iliac artery, External Iliac artery, Obturator artery, Aberrant Obturator artery, Inferior Epigastric Artery CIRCLE OF WILLIS ANTERIOR CEREBRAL ARTERY ANTERIR COMMUNICATING ARTERY INTERNAL CAROTID ARTERY POSTERIOR CEREBRAL ARTERY POSTERIOR COMMUNICATING ARTERY CIRCLE OF HEBRA ANATOMICAL CIRCLE ENCOMPASSING AXIAL,ELBOW FLEXURES,WRISTS,HANDS,GENITAL REGION SITE OF PREDILECTION FOR SCABIES CIRCLE OF IRIS GREATER ARTERIAL CIRCLE OF IRIS – ROOT OF IRIS LESSER ARTERIAL CIRCLE OF IRIS – PUPILLARY MARGIN OF IRIS
- 8. MEDICAL CONSTELLATIONS www.medpgnotes.com 7 NAMED DISEASES Hartnup disease Defect in Membrane transpot mechanism of aminoacids like tryptophan Leiner’s disease Deficiency of Biotin Burning foot disease Deficiency of Pantothenic acid Keshan disease Endemic Cardiomyopathy Deficiency of Selenium Kaschinbeck disease Endemic Degenerative Osteoarthropathy Selenium Deficiency Vagabond Disease Pediculosis Corporis Treatment of choice Disinfection of clothes with 1% GBHC DOC – 1-5% Permethrin/0.5% Malathion
- 9. MEDICAL CONSTELLATIONS www.medpgnotes.com 8NAMED DISEASES Dowling dego’s disease Asymptomatic post pubertal symmetric progressive reticular pigmentation involving flexural areas with scattered comedone like lesion (dark dot follicles) Coat’s disease Retinal telangiectasia Exudative RD Boys, unilateral Eales disease Perivasculitis of retina Donot cause optic neuritis Idiopathic inflammation of peripheral retinal vein Bilateral Young males Recurrent vitreous hemorrhage Sudden appearance of floaters Still’s disease Systemic juvenile chronic arthritis Juvenile rheumatoid arthritis Blount disease (tibia vara) Varus Internal Rotation of Tibia Genu recurvatum (Backward Bending)
- 10. MEDICAL CONSTELLATIONS www.medpgnotes.com 9NAMED DISEASES Caffey’s Disease Infantile Cortical Hyperostosis Periosteal New Bone Formation Cotical Thickening of Underlying bone MC site Mandible Before 5 months of age Jod Basedow Disease Iodine Induced Hyperthyroidism Wolman Disease Lipid Storage disorder Failure to Thrive Vomiting, Diarrhoea, Hepatomegaly, Adrenal Calcification Shone Complex Coarctation of aorta Left Sided Heart Lesions Canavan Disease Associated with Macrocephaly Milroy disease Familial version of congenital lymphedema Meige’s disease Familial version of precox primary lymphedema (1-35 years)
- 11. MEDICAL CONSTELLATIONS www.medpgnotes.com 10NAMED DISEASES Mondor’s disease Thrombophlebitis of superficial veins of anterior chest wall and breast Cord like appearance of subcutaneous veins Marion’s disease Muscular hypertrophy of internal sphincter of urinary bladder Peyronie’s disease Penile fibromatosis Fibrous plaques in corpora cavernosa Pain & curvature of penis Associated with palmar & plantar fibromatosis Van buchem disease Progressive osteosclerosis in skull & mandible Facial distorsions Compression of cranial nerves Lou Gehrig disease Amyotrophic lateral sclerosis Atrophic weakness of hands & forearm Slight spasticity of legs Hyperreflexia Normal sensory system