2996 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
Normal Values echocardiographic ​​diastolic parameters - Velocities, Ratios and Durations

#Diagnosis #Cardiology #Diastology #Normal #Parameters #Values #Diastolic
Velocities, Ratios and Durations ... #Diagnosis #Cardiology
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
A homozygous mutation ... calcifications #infant #NEJM ... #Wolmans #radiology
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
PCI in Acute MI with Cardiogenic Shock. #EBM #Cardiology #CULPRITSHOCK #PCI #VisualAbstract #NEJM
#EBM #Cardiology ... VisualAbstract #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
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
recessive, X-Iinked mutations ... Algorithm #Causes #cardiology
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
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- Caused by mutations
Regression of Clubbing after Treatment of Lung Cancer #Clinical #PhysicalExam #Radiology #Clubbing #Regression #LungCancer #CT #NEJM
#PhysicalExam #Radiology ... LungCancer #CT #NEJM