9 results
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
Hypertension - Workup and Differential ... with previously stable ... 109 mm Hg) with clinical ... Vasculitis • Endocrinologic ... #Differential #
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
changes and may cause ... severe clinical ... Post-operative state ... #Nutrition #Differential ... #Diagnosis #Pathophysiology
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... MRI, iADL scale, ... Aphaso-apraxo-agnosia syndrome ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... Diagnosis #Management #Endocrinology
Causes of Hypocalcemia by Clinical Cause

Acute illness: pancreatitis, tumor lysis, severe illness - Secondary hyperparathyroidism from
by Clinical Cause ... hypocalcemia - Genetic ... Malabsorption syndrome ... #Differential # ... Diagnosis #Endocrinology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Reversible course Differential ... the underlying cause ... Seizures: Treat with AEDs ... until cause identified
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Differential Diagnosis ... Genetic predisposition ... Clinical • Under-recognized ... during Delivery • Stable
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
• Serotonin Syndrome ... serotoninergic meds ... pharmacogenetic disease caused ... by genetic susceptibility ... #diagnosis #differential