2213 results
Pocket Comparison Guide to Heritable Hypertension Syndromes (Secondary Hypertension)

Bartter, Gitelman, Liddle, Primary Aldosteronism, 
GRA (Glucocorticoid Remediable
Heritable Hypertension Syndromes ... (Activating MR Mutation ... #Hypertension #Syndromes ... #Comparison #Table
Inherited Qualitative Platelet Defects
Bernard-Soulier Syndrome
 • Defect of adhesion due to a lack of GP Ib/IX/V
Bernard-Soulier Syndrome ... mobility due to mutation ... Grey Platelet Syndrome ... Defects #comparison #table
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
• Serotonin Syndrome ... susceptibility (AD mutations ... Toxidromes #comparison #table
Distal Renal Tubular Acidosis
Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... diseases(Sjogren's Syndrome ... - SCNN mutation ... HTN (WNKI and 4 mutations
Hyperthermic Syndromes - This table summarizes the similarities and differences between some toxicologic causes of hyperthermic
Hyperthermic Syndromes ... - This table summarizes ... of hyperthermic syndromes ... • Serotonin syndrome ... #Comparison #Table
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
Marfan Syndrome ... - Caused by mutations ... Dominant #Marfans #Syndrome
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Gardner's Syndrome
Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Gardner's Syndrome ... Associated with mutation ... #Gardners #Syndrome
Summary Table of Paraneoplastic Syndromes

#Diagnosis #Oncology #Paraneoplastic #Syndromes #Table
Summary Table of ... Paraneoplastic Syndromes ... Paraneoplastic #Syndromes ... #Table
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Clinical Syndrome:
 • Common Clinical Features: alveolitis, ear and
Clinical Syndrome ... myelodysplastic syndrome ... myelodysplastic syndrome ... Features: • somatic mutations ... ubiquitylation • mutations