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VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Clinical Syndrome:
• Common Clinical Features: alveolitis, ear and

Somatic) Syndrome Clinical ... Syndrome: • Common Clinical ... Features: • somatic mutations ... ubiquitylation • mutations ... myeloid cells NEJM

Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA

A homozygous mutation ... acid lipase is critical ... #clincial #peds ... calcifications #infant #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

Bilateral Vestibular Schwannomas in Neurofibromatosis Type 2- ...Magnetic resonance imaging of the brain performed after the

which is caused by mutations ... #NEJM #clinical

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

Goal-Directed Therapy - Evidence Summary of Major Clinical Trials

- EGDT: NEJM 2001

- ProCESS: NEJM

Summary of Major Clinical ... Trials - EGDT: NEJM ... - ProCESS: NEJM ... 2014 - ARISE: NEJM ... - ProMlSe: 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

Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
- Increasing

Pathogenesis and Clinical ... precursor protein mutations ... Presenilin 1 and 2 gene mutations

Major Clinical Trials and Evidence Summary for Transfusion Thresholds in Critical Care

TRICC - NEJM 1999 -

Major Clinical Trials ... Thresholds in Critical ... Care TRICC - NEJM ... - ICU FOCUS - NEJM ... UGIB TRISS - NEJM

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