21 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... /Complications: ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Preterm Infant Complications - Differential Diagnosis
Respiratory:
 • Transient Tachypnea of the Newborn (TTN)
 • Respiratory Distress
Preterm Infant Complications ... - Differential Diagnosis ... Respiratory Distress Syndrome ... Enterocolitis (NEC) Neurologic ... #Causes #Peds #
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
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 ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Hypokalemia Evaluation Algorithm

Before evaluating hypokalemia, life threatening complications such as arrhythmias and paralysis should be looked
life threatening complications ... wasting from other causes ... consumption • Low ... #Hypokalemia #diagnosis ... #low
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... Causes: • Large ... / Symptoms / Complications ... #MSK #pathophysiology ... #diagnosis #symptoms
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
involvement: Intractable nausea ... pain • Extra-CNS complications ... Manifestations #diagnosis ... #neurology #symptoms ... #signs
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
changes and may cause ... severe clinical complications ... , K, Mg2+) • Slow ... #Differential #Diagnosis ... #Pathophysiology
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... high WBC count cause ... WBC >100k, + lab signs ... , Elevated Cr, Low ... #TLS #diagnosis
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
- Differential Diagnosis ... Decreased Intake: • Low ... - Gitelman SIGNS ... #Algorithm #Pathophysiology ... #Nephrology #Chloride