3348 results
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
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
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
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 ... - Down syndrome
Spinal Cord Injury Syndromes
Complete, Incomplete, Paraplegia, Tetraplegia
Incomplete Spinal Cord Syndromes:
 - Brown Sequard Syndrome
 - Anterior
Spinal Cord Injury Syndromes ... Brown Sequard Syndrome ... Anterior Cord Syndrome ... Posterior Cord Syndrome ... - Central Cord Syndrome
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 ... #CentralCord #Syndromes
Causes of Hypercalcemia due to increased Vitamin D levels
 • The BIG 3:
Genetic: Williams syndrome ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation
Classification of Jaundice
Unconjugated hyperbilirubinemia (predominantly indirect bilirubin)
 • Increased bilirubin production (eg, hemolytic anemias, hemolytic reactions,
Crigler-Najjar syndrome ... Hereditary Cholestatic Syndromes ... Dubin-Johnson syndrome ... , Rotor syndrome ... ) or mutation in