38 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... deficiencies present in infants ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... high WBC count cause ... Dehydration • Symptoms ... : • Pathophysiology ... #TLS #diagnosis
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
Fat Embolism Syndrome ... accounts for —9096 of cases ... Pathophysiology ... FES is a clinical ... #Symptoms
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
severe clinical ... overload) Other Symptoms ... hyperparathyroidism Treatment ... #Differential #Diagnosis ... #Pathophysiology
Peri-operative Hyperthermia - Guidelines for Crises in Anaesthesia
If prolonged or ≥ 39 C this is a
39 C this is a clinical ... Treatment depends ... maintained fever CAUSES ... devices, especially infants ... Anesthesia #Checklist #Diagnosis
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
Non-inflammatory Causes ... Visual or auditory symptoms ... conjunction with symptoms ... and treatment can ... MRI lesions and clinical
Algorithm for the Diagnosis of Serotonin Syndrome
 - Serotonin syndrome is thought to be caused by
Algorithm for the Diagnosis ... thought to be caused ... - Clinical findings ... initiation of treatment ... #Symptoms
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Sarcoidosis - Diagnosis ... survival is 93-95% Pathophysiology ... renal failure Clinical ... at the time of diagnosis ... #Sarcoidosis #Diagnosis