12 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... rubbing • Atopic diseases ... / Symptoms / Complications ... #Keratoconus #pathophysiology
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings
• Primary Sjögren's is a solitary process whereas secondary Sjögren's
Pathogenesis and Clinical ... other autoimmune diseases ... / Symptoms: - ... #Pathophysiology ... #Symptoms
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... Carpal Tunnel Syndrome ... Cardiovascular disease ... Overproduction #diagnosis #signs ... #symptoms #endocrinology
Restrictive Cardiomyopathy - Diagnosis and Causes
Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema)
Physical
Diagnosis and Causes Clinical ... ↑ "Right Sided-Symptoms ... Hyper-eosinophilc Syndrome ... #differential #cardiology ... #algorithm
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #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 ... history of the disease ... Genetic Predisposition ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... age, however the disease ... Diagnosis: HLH signs ... and symptoms can
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