5254 results
diagnosis differential algorithm clinical treatment pharmacology cardiology neurology criticalcare table video physicalexam radiology pocus peds gastroenterology pulmonary pediatrics nephrology syndrome
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
genetic disorder, caused ... gene deletion or mutation ... #Diagnosis #Management
Typical Therapeutic Applications of Penicillin G Pneumococcal Pneumonia • Streptococcus pneumoniae is a major cause of bacterial
pneumoniae is a major cause ... ill from other causes ... worldwide due to mutations ... #indications #management
Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia
loss-of-function germline mutations ... and petechiae Causes ... hematology #diagnosis #management
Distal Renal Tubular Acidosis Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... defect - ENaC mutation ... - SCNN mutation ... HTN (WNKI and 4 mutations
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
due to ALS - Mutations ... - Causes progressive ... Escorial criteria uses ... neurology #diagnosis #management
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Symptoms - Caused ... by mutations in
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
Causes of Dilated ... cardiomyopathy, Genetic causes ... , Unknown causes ... recessive, X-Iinked mutations ... Other secondary causes
Causes of Hypercalcemia due to increased Vitamin D levels • The BIG 3:
Causes of Hypercalcemia ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation ... Hypercalcemia #VitaminD #causes
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Alzheimer's (99% of cases ... Alzheimer's (1% of cases ... precursor protein mutations ... Presenilin 1 and 2 gene mutations
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