2699 results
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
BEE Syndromes - ... exonuclease 1 (TREX1) mutations ... recessive—Usher syndrome ... aura #BEE #Syndromes ... #neurology #noninflammatory
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
Central Cord Syndromes
 - Anterior Cord Syndrome
 - Central Cord Syndrome
 - Brown Sequard Syndrome

#CentralCord #Syndromes
Central Cord Syndromes ... Anterior Cord Syndrome ... - Central Cord Syndrome ... Brown Sequard Syndrome ... #BrownSequard #Neurology
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
Glomerular Diseases - Nephritic and Nephrotic Syndromes

Nephritic syndrome:
 - Acute poststreptococcal 
glomerulonephritis 
 - Rapidly progressive
and Nephrotic Syndromes ... Nephritic syndrome ... Nephrotic syndrome ... Classification #Nephrology ... Recommended Text: Nephrology
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Pathophysiology Gitelman Syndrome ... to inactivating mutations ... dr_missyhanna #Gitelman #Syndrome ... Pathophysiology #nephrology
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
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
Nephritic vs Nephrotic Syndrome

Step 1: If the patient has hematuria and/or proteinuria, think about nephrotic/nephritic syndromes.
Step
Nephritic vs Nephrotic Syndrome ... nephrotic/nephritic syndromes ... Nephritic #Nephrotic #Syndrome ... Comparison #Algorithm #Nephrology