2789 results
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
due to ALS - Mutations ... of UMN and LMN signs ... of UMN and LMN signs ... EMG: LMN Signs in ... Lateral #Sclerosis #neurology
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
Brudzinski's Sign in Meningitis

Forced flexion of the neck elicits a reflex flexion of the hips. It
Brudzinski's Sign ... #Brudzinskis #Signs ... Clinical #Video #neurology
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
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
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
SNOOP mnemonic may catch potentially life-threatening headaches
Systemic signs and disorders
Neurologic symptoms
Onset new or changed & patient
headaches Systemic signs ... and disorders Neurologic ... redflag #dangerous #neurology