12 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... PraderWilli #Syndrome #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 ... Signs/Symptoms/Complications ... , vomiting • Late ... #genetics #endocrinology ... #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... Genetic Predisposition ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology ... #immunology
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework

High Altitude Pulmonary Edema:
 • Accumulation
Edema (NCPE) - Differential ... 10,000 ft) • Symptoms ... with exertion, difficulty ... decreased respiratory rate ... edema #causes #differential
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
may cause severe clinical ... deficiency (thiamine) Late ... overload) Other Symptoms ... Syndrome #Nutrition #Differential ... #Diagnosis #Pathophysiology
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework

Heat Cramps:
 • Muscle pain or spasm -
Heat Stroke - Differential ... Collapse: • Pathophysiology ... Syncope • Signs/Symptoms ... Decreased pulse rate ... - Athlete - difficulty
Humoral Immunity - Pathogenesis and Clinical Findings
Antigens (Ag) are produced from pathogens (bacteria, viruses, fungi, parasites)
Pathogenesis and Clinical ... proliferate and differentiate ... antigen -> Incr Rate ... Humoral #Immunity #pathophysiology ... #immunology
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Pathogenesis and clinical ... Neurotic personality Genetics ... • Incr Heart rate ... BehavioralDisorder #Pathophysiology ... #diagnosis #symptoms
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
brain PRES Clinical ... Etiology: • Pathophysiology ... Neurological symptoms ... Reversible course Differential ... Seizures: Treat with AEDs
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
combination of the clinical ... lateral sclerosis Pathophysiology ... features developing later ... fasciculations Common Symptoms ... conditions listed in differential