10 results
diagnosis management pediatrics differential genetics 21hydroxylasedeficiency 21ohd acromegaly ammonia bulimianervosa diabetes diabeticketoacidosis dka encephalopathy gitelman hyperammonemia hypokalemia nephrology neurology nutrition
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms/Complications ... #genetics #pathophysiology ... #peds #pediatrics
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
and decreased metabolism ... rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Refeeding Syndrome Overview What Is It? • Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Refeeding Syndrome ... from hormonal and metabolic ... severe clinical complications ... • Nephrotic syndrome ... Differential #Diagnosis #Pathophysiology
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings • Note: in DKA, body K+ is lost
Due to neuronal metabolism ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
Hypogonad (50%) • Metabolic ... malignancy Pathophysiology ... Beckwith Wiedemann syndrome ... Diagnosis #Management #Endocrinology ... #Treatment #Pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Encephalopathy Syndrome ... Clinico-Radiological Syndrome ... Etiology: • Pathophysiology ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs
Retinopathy of Prematurity: Pathogenesis and clinical findings Increased metabolic demand of growing eye -> Excessive VEGF production ->
findings Increased metabolic ... -> Neovascular complications ... #Prematurity #peds ... #pediatrics #pathophysiology
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... hypomagnesemia • Metabolic ... Hypochloremic metabolic ... diarrhea Potential Complications ... nephrology #management #pathophysiology
Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
Bulimia Nervosa: Complications ... • Boerhaave syndrome ... Vomiting may lead to metabolic ... abuse may lead to metabolic ... #pathophysiology
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