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clinical physicalexam diagnosis differential neurology ophthalmology algorithm ocular msk management orthopedics cardiology sports test sign slitlamp radiology pulmonary pocus pediatrics
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
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
Drugs Causing Acute Pancreatitis Class Ia: The medications in which there was a rechallenge and other causes
rechallenge and other causes ... out other common causes ... Class II: Cases ... and atleast4 case ... #Pancreatitis #Causes
Classification of Diabetes Insipidus Central or neurogenic diabetes insipidus: - Congenital - Structural malformations affecting the hypothalamus
rarely recessive) mutations ... : inactivating mutations ... recessive or dominant mutations ... uropathy, Metabolic causes
Causes of Erythema Nodosum - Mnemonic NO cause found in 60% of cases Drugs (antibiotics e.g., sulfonamides, amoxicillin) Oral
Causes of Erythema ... Mnemonic NO cause ... found in 60% of cases ... Nodosum #Mnemonic #Causes
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
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