3123 results
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
Typical Recommendations for Antibiotic Duration for Common Bacterial Infections in Adults 

- Dr. Eric Strong @DrEricStrong
#Antibiotics #Durations ... Pharmacology #Infection #Management
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
Key Clinical Points for Rosacea #Management #Derm #PrimaryCare #Rosacea #Overview #TakeHome #NEJM
Points for Rosacea #Management ... Overview #TakeHome #NEJM
Options for Fertility Preservation. #Management #Obgyn #PrimaryCare #FertilityPreservation #Overview #Options #NEJM
#Management #Obgyn ... Overview #Options #NEJM
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
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- Caused by mutations
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
A homozygous mutation ... calcifications #infant #NEJM
Pocket Comparison Guide to Heritable Hypertension Syndromes (Secondary Hypertension)

Bartter, Gitelman, Liddle, Primary Aldosteronism, 
GRA (Glucocorticoid Remediable
(Activating MR Mutation ... Table #Diagnosis #Management