5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Clinical features of shock from dehydration in an infant

Decreased level of consciousness 
Sunken fontanelle 
Dry mucous
Clinical features ... #PhysicalExam #Signs ... #Symptoms #Shock ... #Dehydration #Peds ... #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... vomiting • Late (shock ... endocrinology #peds ... #pediatrics
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
- Myotonic dystrophy ... test - Cogan sign ... - Peek sign ... immunosuppressants - Meds ... diagnosis #management #neurology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
may precede the neurologic ... Infection/Sepsis/Shock ... Neurological symptoms ... Seizures: Treat with AEDs ... diagnosis #management #neurology