1017 results
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
Syndrome - Signs and Symptoms ... function - Autosomal Dominant ... Diagnosis #Signs #Symptoms
Malignant Hyperpyrexia
A rare complciation of halothane or suxamethonium.
Predisposition to developing this is inherited (autosomal dominant).

#Malignant #Hyperpyrexia
inherited (autosomal dominant ... Hyperthermia #Signs #Symptoms
Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1) 
Hereditary multiple neurofibromas. 
Autosomal dominant with high rate
Autosomal dominant ... Syndrome #Signs #Symptoms
Henoch Schonlein Purpura 
Typically a young boy. Often occurs following upper respiratory tract infection. A systemic
often with IgA dominant ... Pediatrics #Signs #Symptoms
Congenital Long QT Syndrome: Illness Script

Who?
 - Kids or young adults, usually < 30
 - high
live births Symptoms ... arrest/death - Symptoms ... May be autosomal dominant
Myotonic Dystrophy
Typically presents in middle age with weakness of hands, legs and neck.
 - Mental deficiency
- Autosomal Dominant ... Diagnosis #signs #symptoms
EKG in Acute Pulmonary Embolism
The sensitivity and specificity for EKG findings in acute PE are low.
EKG
cardio-pulmonary symptoms ... Deviation • Dominant
What is a Boxer’s fracture?? Fracture of the 4th or 5th metacarpal neck
 - Common in
onto the hand Symptoms ... recommended if injury of dominant
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
Visual or auditory symptoms ... conjunction with symptoms ... • Autosomal dominant
REPRISE Trial - Tolvaptan in CKD - Visual Abstract

Does tolvaptan slow the progression of autosomal dominant
progression of autosomal dominant ... relieved some disease symptoms