828 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
Regression of Clubbing after Treatment of Lung Cancer #Clinical #PhysicalExam #Radiology #Clubbing #Regression #LungCancer #CT #NEJM
Regression #LungCancer #CT ... #NEJM
Emphysematous Prostatitis - Radiography of the kidney, ureter, and bladder showed an atypical focus of gas
computed tomography (CT ... Clinical #Radiology #CT ... #Prostatitis #NEJM
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
Urinary Tract Tuberculosis - Contrast-enhanced computed tomography (CT) of the abdomen showed mild dilatation of the
computed tomography (CT ... excretory phase on CT ... Radiology #Pathology #CT ... AcidFastBacilli #Microscopy #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)
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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
Pulsatile AAA on Abdominal Exam

A 66-year-old man presented with a 2-month history of abdominal bloating and
abdominal mass, which CT ... Clinical #Video #NJEM