9 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 ... delayed puberty -> Infertility ... pathophysiology #peds #pediatrics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)
Clinical features
all: fever > 101.3 F
most: oxygen
Pediatric Inflammatory ... Multisystem Syndrome ... infection (PIMS-TS) Clinical ... #coronavirus #diagnosis ... #Signs #Symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-Hydroxylase Deficiency ... Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... endocrinology #peds #pediatrics
Clinically Important Vitamins and Vitamin Deficiency States
Fat-soluble Vitamins: 
 • Vitamin A - Xerophthalmia, night blindness,
Clinically Important ... Vitamins and Vitamin Deficiency ... Wernicke-Korsakoff syndrome ... #differential #diagnosis ... #signs #symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... #diagnosis #signs ... #symptoms
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Whipple, vitamin deficiency ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... #Geriatrics #Workup
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... Deficiency in galactosylation ... nephrotic/nephritic syndrome ... Pathophysiology #Diagnosis ... #Signs #Symptoms
Bronchiectasis - Summary

What?
• Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... • Mounier-Kuhn syndrome ... Nasal polyps and signs ... obstructive • Bronchoscopy ... α1-antitrypsin deficiency
Clinical Feature of Hypomagnesemia and Magnesium Deficiency
 • Electrolyte Disturbance: Hypokalemia, Hypocalcemia
 • Neuromuscular and central
Clinical Feature ... and Magnesium Deficiency ... Chronic fatigue syndrome ... Hypomagnesemia #diagnosis ... #signs #symptoms