2995 results
Hypocalcemia - Differential Diagnosis Algorithm - Low and High Phosphate
LOW PHOSPHATE
 - Low/NormaI PTH
Differential Diagnosis Algorithm ... Phenytoin, Nephrotic Syndrome ... • Activating Mutation ... Differential #Diagnosis #Algorithm
Causes of Male Infertility - Differential Diagnosis Algorithm
Sperm Transport:
 • Vasectomy
 • Cystic fibrosis gene mutation
Differential Diagnosis Algorithm ... fibrosis gene mutation ... • Kartagener syndrome ... : • Kallmann syndrome ... Differential #Diagnosis #Algorithm
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
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm
 • Polycythemia vera → Blood JAK2 mutation screening
myelofibrosis Diagnosis Algorithm ... vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
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
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