2676 results
Pseudogout: pathogenesis and clinical findings
 - Idiopathic (vast majority of cases) -> Mechanism unknown
 - Familial
NTPPPH enzyme and mutations ... high-resolution ultrasound ... CPPD #Disease #Signs
Pulmonary Ultrasound Signs

B Sign, B Line, Comets, A Lines, C Lines

#BSign #BLine #Comets #ALines #Clines #Pulmonary
Pulmonary Ultrasound ... Signs B Sign ... Pulmonary #Lung #Ultrasound ... #Signs #Key #POCUS
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
Marfan Syndrome - Signs ... - Caused by mutations ... Syndrome #Diagnosis #Signs
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
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 ... chromosome 21) Signs ... geriatrics #diagnosis #signs
Abdominal Pain - Physical Examination Signs and Maneuvers
 - Murphy's sign
 - Kehr's sign
 - McBurney's
- Kehr's sign ... - McBurney's sign ... - Psoas sign ... - Obturator's sign ... - Cough sign
Cystic Fibrosis 
An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Mutations affect ... CysticFibrosis #Signs
Gardner's Syndrome
Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Associated with mutation ... Polyposis #Diagnosis #Signs
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
findings • Sporadic mutation ... • Inherited mutation ... Retinoblastoma Signs ... ophthalmology #diagnosis #signs