19 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... • Other rare causes ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... Ehlers-Danlos syndrome ... / Symptoms / Complications ... #Keratoconus #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #symptoms
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
accounts for —9096 of cases ... Pathophysiology ... FES is a clinical ... #Diagnosis #Signs ... #Symptoms
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 ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... are not caused ... Diagnosis #Management #Signs ... #Symptoms
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
Pathogenesis and Clinical ... out of cells may cause ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... #Diagnosis #Signs ... #Symptoms
Restrictive Cardiomyopathy - Diagnosis and Causes
Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema)
Physical
Clinical: Dyspnea ... ↑ "Right Sided-Symptoms ... Hyper-eosinophilc Syndrome ... #differential #cardiology ... #algorithm