22 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology
Acute Rheumatic Fever: Pathogenesis and Clinical Findings

Delayed autoimmune reaction
-> Molecular mimicry
-> GAS antigen cross-reacts with host
->
Pathogenesis and Clinical ... Arthralgia • Erythema ... RheumaticFever #pathophysiology ... #diagnosis #signs ... #symptoms #complications
Kawasaki Disease: Clinical Findings
Diagnostic Criteria - Fever and 4/5 of the following:
 • Conjunctivitis
 • Polymorphous
Kawasaki Disease: Clinical ... involvement • Edema/erythema ... hands & feet Signs ... /Symptoms/Complications ... #Diagnosis #Pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... Onset Alzheimer's (1% ... - Presenilin 1 ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology
Polyarteritis Nodosa (PAN): Pathogenesis and Clinical Findings

Medical Comorbidities Malignancies (most commonly hairy-cell leukemia)
Immunogenetic Predisposition: patient is
Pathogenesis and Clinical ... - Postulate 1 ... Testicular pain, erythema ... PolyarteritisNodosa #Pathophysiology ... #Diagnosis #Signs
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
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 ... anterioruveitis, erythema ... symmetrical, ankles), erythema ... Diagnosis #Management #Signs
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... this disease is 1/ ... Signs of immunodeficiency ... Genetic Predisposition ... Agammaglobulinemia #XLinked #pathophysiology
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... ALS involves: (1) ... diagnosis: months - Criteria ... : El Escorial criteria ... likelihood of this 1.