13 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Syndrome Signs ... /Symptoms/Complications ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Unprovoked Pediatric Seizures -  Epilepsy Syndromes - Differential Diagnosis Algorithm 
Infantile:
 • Benign
Causes of Unprovoked ... Seizures - Epilepsy Syndromes ... • Dravet Syndrome ... Diagnosis #Algorithm #Causes ... #Peds #Pediatrics
Causes of Pediatric Seizures - Differential Diagnosis Algorithm
Infantile:
 • Benign Focal Epilepsy of Infancy
 • West
Causes of Pediatric ... Infancy • West Syndrome ... • Dravet Syndrome ... Diagnosis #Algorithm #Causes ... #Peds #Pediatrics
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Electrolyte/fluid shifts caused ... changes and may cause ... severe clinical complications ... are the leading cause ... Differential #Diagnosis #Pathophysiology
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
although hepatic causes ... namely, the many causes ... rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer's (99% of cases ... Alzheimer's (1% of cases ... mutations - Down syndrome ... Signs / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... Causes: • Large ... Signs / Symptoms / Complications ... #CaudaEquina #Syndrome ... #MSK #pathophysiology
Widened Pulse Pressure - Differential Diagnosis and Pathophysiology

Pulse pressure is the difference between the systolic blood
Diagnosis and Pathophysiology ... Physiologic Causes ... • Sepsis Complications ... Acute Coronary Syndrome ... Differential #Diagnosis #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Encephalopathy Syndrome ... Etiology: • Pathophysiology ... the underlying cause ... Seizures: Treat with AEDs ... until cause identified