15 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... / Complications ... Areflexia (loss of normal ... reflexes) • Urinary ... #MSK #pathophysiology
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Refeeding Syndrome ... severe clinical complications ... overload) Other Symptoms ... deficiency • Primary ... Differential #Diagnosis #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
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
of secretions normally ... resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
to be falsely normal ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... ATRA treatment Pathophysiology ... Diagnosis: >3 symptoms ... 500 mg QD until normal ... Differentiation #Syndrome
Leukemias Overview: ALL, CML, AML, APML, CLL

Acute leukemias > 20% blasts in the peripheral blood smear
develop leukostasis syndrome ... + distinctive primary ... • Tumor lysis syndrome ... Transformation: • Complication ... #Leukemia #Hematology
Cryofibrinogenemia Summary

Cryofibrinogenemia Epidemiology:
 • 40-70 years with a modest female predominance

Cryofibrinogenemia:
 • The precipitation of a
cooled from the normal ... Cryofibrinogenemia Symptoms ... Primary (essential ... Antiphospholipid syndrome ... Cryofibrinogenemia #diagnosis #rheumatology
Cushing's Syndrome - Hypercortisolism - Diagnosis and Clinical Features
1) Skin
 • Thin, easily bruisable skin with
Cushing's Syndrome ... areas that are not normally ... not a feature of primary ... Diagnosis #signs #symptoms ... #endocrinology