6118 results
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
A homozygous mutation ... confirmed the diagnosis ... calcifications #infant #NEJM
Diagnostic Algorithm for Non–Small-Cell Lung Cancer (NSCLC). The upper portion of the algorithm shows the morphologic
Diagnostic Algorithm ... and BRAF V600E mutations ... #Diagnosis #Honc ... #NSCLC #PDL1 #NEJM
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 ... - SCNN mutation ... HTN (WNKI and 4 mutations ... Acidosis #RTA #diagnosis
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm
 • Polycythemia vera → Blood JAK2 mutation screening
myelofibrosis Diagnosis ... vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation ... hematology #PV #ET #diagnosis
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
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- Caused by mutations ... Marfans #Syndrome #Diagnosis
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
DSM5 Diagnostic Criteria for Delirium #Diagnosis #IM #Delirium #DSM5 #NEJM
DSM5 Diagnostic ... for Delirium #Diagnosis ... Delirium #DSM5 #NEJM
Normal Values echocardiographic ​​diastolic parameters - Velocities, Ratios and Durations

#Diagnosis #Cardiology #Diastology #Normal #Parameters #Values #Diastolic
Velocities, Ratios and Durations ... #Diagnosis #Cardiology
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 ... pathophysiology #geriatrics #diagnosis