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clinical ucsdh dermatology skinrash radiology diagnosis ophthalmology derm physicalexam ct ebm honc peds rash syndrome microscopy sign skin management pathology
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations ... BreastCancer #DNARepair #NEJM
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
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome Clinical Syndrome: • Common Clinical Features: alveolitis, ear and
Features: • somatic mutations ... ubiquitylation • mutations ... myeloid cells NEJM
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
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
- Caused by mutations
Herpes Zoster Mandibularis - The lesions were scattered along the area that is innervated by the
#Clinical #Photo ... Mandibularis #Rash #NEJM
A necrotic ulceration was observed on the right side of the tongue. Cervicofacial computed tomography, performed
arteritis #clinical #photo ... Arteritis #tongue #NEJM
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
A homozygous mutation ... calcifications #infant #NEJM
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
precursor protein mutations ... Presenilin 1 and 2 gene mutations
HIV Antiretroviral Medications Cheat Sheet NRTIs Integrase Inhibitors NNRTIs PIs Fusion Inhibitors CCR5 Antagonist Post Attachment Inhibitor Combination Pills NRTI-Sparing Resistance Mutations Summary - https://hivdb.stanford.edu/ By
NRTI-Sparing Resistance Mutations
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