45 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... Infertility • Decr Bone ... sleep apnea, cor pulmonale ... pathophysiology #peds #pediatrics
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
Fat Embolism Syndrome ... Trauma to the long bone ... onset widespread pulmonary ... Fat #Embolism #Syndrome ... #Diagnosis #Signs
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
- Differential Diagnosis ... Panhypopituitarism Treatment ... Chemotherapy • Bone ... #Differential #Diagnosis ... endocrinology #causes #pediatrics
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
- Differential Diagnosis ... Arrhythmia • Neurologic ... Anomaly • Pulmonary ... Sudden Infant Death Syndrome ... #Causes #Peds #Pediatrics
NINDS Diagnostic Criteria for Guillain Barre Syndrome 
Features Required for Guillain-Barré Syndrome:
 • Progressive muscle weakness
Guillain Barre Syndrome ... weakness of more than one ... sensory symptoms or signs ... nervous system signs ... #neurology #neuropathy
Risk Factors and Signs of Copper Deficiency
Risk Factors:
 • Gastrointestinal: Previous upper bowel resection/bariatric surgery, Inflammatory
Risk Factors and Signs ... diarrhoea, Short bowel syndrome ... dental fixatives, Treatment ... Musculoskeletal: Low bone ... Copper #Deficiency #diagnosis
Myasthenia Gravis Overview

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

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
may precede the neurologic ... Transplantation including bone ... epilepticus Treatment ... underlying cause • Treatment ... #neurology
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
• Or brainstem syndromes ... Multiple Sclerosis Treatment ... objective evidence of neurologic ... #management #neurology ... #treatment #MS
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Overwhelming clinical syndrome ... : HLH signs and ... Hemophagocytosis in bone ... • Bicytopenia Treatment ... #management #treatment