92 results
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... molecular defect, CFTR mutations ... Other mutations ... CysticFibrosis #Mutations
Typical Recommendations for Antibiotic Duration for Common Bacterial Infections in Adults 

- Dr. Eric Strong @DrEricStrong
#Antibiotics #Durations
Antibiotic treatment durations for first line antibiotics recommended by Public Health England (PHE) guidance
 • Acute
Antibiotic treatment durations ... Antibiotics #management #durations
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
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Retinoblastoma - MRI
 • Most common intra-ocular neoplasm in children.
 • Clinical Presentation: leukocoria (loss of
have a germline mutation ... by a germline mutation ... With germline mutations
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
Classification of Diabetes Insipidus

Central or neurogenic diabetes insipidus:
 - Congenital - Structural malformations affecting the hypothalamus
rarely recessive) mutations ... : inactivating mutations ... recessive or dominant 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