2557 results
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
Marfan Syndrome ... - Signs and Symptoms ... - Caused by mutations ... Dominant #Marfans #Syndrome ... #Diagnosis #Signs
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 ... Polyposis #Diagnosis #Signs
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 ... chromosome 21) Signs ... geriatrics #diagnosis #signs
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Overwhelming clinical syndrome ... Diagnosis: HLH signs ... HLH-associated mutations
Differential Diagnosis and Workup for Male Gynecomastia:
Medications: spironolactone, ketoconazole, finasteride, alcohol, opiates, INH, steroids (testosterone, estrogen),
Hypogonadism: look for signs ... risk if +FH, BRCA mutation ... , Klinefelter syndrome
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
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Ramsay Hunt Syndrome - Herpes Zoster Oticus 
Triad:
1. Ipsilateral facial paralysis 
2. Ear pain 
3. Vesicles
Ramsay Hunt Syndrome ... Guillain-Barré syndrome ... • Stroke syndromes ... #RamsayHunt #Syndrome ... Diagnosis #Symptoms #Signs
Sjogren Syndrome - Signs, Symptoms and Diagnosis

#Sjogren #Syndrome #Signs #Symptoms #Diagnosis #rheumatology
Sjogren Syndrome ... - Signs, Symptoms ... Diagnosis #Sjogren #Syndrome ... #Signs #Symptoms
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