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diagnosis clinical differential management classification cardiology comparison pharmacology causes table ekg algorithm dissection nephrology pathophysiology aortic pocus radiology syndrome typea
Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1) Hereditary multiple neurofibromas. Autosomal dominant with high rate
Neurofibromatosis Type ... Autosomal dominant ... Neurofibromatosis #Type1
Von Willebrand Disease Classification Type 1 (Accounts for ~3/4 of cases): • Defect: Quantitative defect (i.e. not
Classification Type ... • Inheritance: Autosomal ... • Inheritance: Autosomal ... dominant (common), Autosomal ... • Inheritance: Autosomal
Angioedema - Classification Diagnosis and Treatment Types of Angioedema: • Acute allergic angioedema - Usually occurs with
and Treatment Types ... angioedema - Rare autosomal ... deficiency - Rare autosomal ... Classification #Types
Inherited Non-hemolytic Disorders of Hyperbilirubinemia == Disorders of Conjugation == Gilbert Syndrome: • 5-10% of the population
syndrome • An autosomal ... Syndromes: • Type ... encephalopathy • Type ... II CN is an autosomal ... • CN syndrome type
Types of Renal Calculi Calcium oxalate - Interstitial apatite plaque, Low urine volume, Increased urinary calcium excretion,
Types of Renal Calculi ... tubular acidosis (type ... urinary citrate - Autosomal ... tubular acidosis (types ... failure #Calculi #Types
Classification of Diabetes Insipidus Central or neurogenic diabetes insipidus: - Congenital - Structural malformations affecting the hypothalamus
or pituitary, Autosomal ... in AVPR2 gene, Autosomal ... Classification #Types
Congenital Long QT Syndrome: Illness Script Who? - Kids or young adults, usually < 30 - high
Three definite sub-types ... • May be autosomal
Hamartomatous Polyposis Syndromes - Peutz-Jeghers Syndrome (PJS), Juvenile Polyposis Syndrome (JPS), Cowden Syndrome (CS), Cronkhite-Canada (CC),
Tumor → PJS" - Autosomal ... Gastric CA JPS" - Autosomal ... - Varied polyp types
Type 1 vs Type 2 Myocardial Infarction Myocardial Infarction Type 1: - Plaque rupture/erosion with occlusive thrombus
Type 1 vs Type 2 ... Myocardial Infarction Type ... Myocardial Infarction Type ... #Type2 #Comparison ... #TypeI #TypeII
Dupuytren’s Disease: Pathogenesis and Clinical Findings • Aging, smoking and/or diabetes -> Microangiopathy and palmar fascia
European descent -> Autosomal ... fibroblasts and type
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