18 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
Aplastic Anemia - Overview

Who?
• M = F
• 3 peaks:	1) Childhood	2) 15-25 years	3) >60 years

What?
• Aplastic anemia
Aplastic Anemia ... Clinical Presentation ... skin color • Difficulty ... Syndromes: - Genetic ... • Improve the symptoms
Lung Abscess - Diagnosis and Management Summary

Lung Abscess Etiology:
 • Necrosis of lung parenchyma by a
Lung Abscess Pathophysiology ... Lung Abscess - Clinical ... Leukocytosis, anemia ... Lung Abscess Differential ... Abscess #pulmonary #differential
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... roughly double this rate ... Genetic Predisposition ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
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
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Phosphatase Of Clinical ... • Pernicious anemia ... collection with EDTA Pathophysiology ... mineralization Symptoms ... Waddling gait - Difficulty
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