14 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework

Heat Cramps:
 • Muscle pain or spasm -
Collapse: • Pathophysiology ... → Syncope • Signs ... /Symptoms: - Lightheadedness ... encephalopathy) 2. ... diagnosis #causes
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
loss of autonomy 2) ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Subtypes #Classification
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
• Childhood illness ... Neurotic personality Genetics ... sweating, trembling, nausea ... BehavioralDisorder #Pathophysiology ... #signs #psychiatry
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
Cord Disorders - Differential ... and signs below ... Non-compressive Spinal Cord Causes ... Spinal injuries 2. ... #algorithm
CNS Infections - Viral Encephalitis and Bacterial Meningitis - Differential Diagnosis Framework

Viral Encephalitis:
MCC: Enteroviruses (e.g., coxsackievirus
simplex virus 1 and 2 ... Coltivirus Symptoms ... influenzae Symptoms ... Acute meningeal signs ... second phase of the illness
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... the limbs; (2) ... fasciculations Common Symptoms ... examination 2. ... conditions listed in differential
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... Reversible course Differential ... the underlying cause ... until cause identified
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... • Bilateral signs ... and/or symptoms ... • Infectious causes ... management #neurology #differential