Named crap & other things I keep forgetting Flashcards
(117 cards)
Osler-Weber-Rendu syndrome
AKA hereditary hemorrhagic telangiectasia
AD inheritance
Recurrent epistaxis, Telangiectasias, AVMs, GI bleeding, hematuria
Sturge-Weber syndrome
Non-inherited developmental abnormality of neural crest derivatives
Activating mutation of GNAQ
Affects capillaries in unilateral V1/V2 -> Port-wine stain
Episcleral hemangioma -> increase ocular pressure -> glaucoma
Ipsilateral leptomeningeal angioma -> Seizures
Mental retardation
Tram-track calcifications of opposing gyri
Leukocyte adhesion deficiency
AR loss of CD18 integrins on leukocytes prevents adhesion/margination in acute inflammation
Delayed separation of umbilical cord
Increased circulating PMNs (can’t stay in reserve in lung circ)
Recurrent bacterial infxns lacking pus
Chediak-Higashi syndrome
Microtubule (‘railroad’) defect -> Phagosomes and lysozomes can’t fuse in leukocytes
Increased risk of pyogenic infxns
Neutropenia
Giant granules in leukocytes
Defective primary hemostasis
Albinism from melanocyte dysfxn
Peripheral neuropathy due to axonal trafficking dysfxn
Chronic granulomatous disease
X-linked or AR NADPH oxidase defect -> Poor O2-dependent killing
Catalase-positive organism infxns (Those that destroy H2O2 that they create to block HOCl formation by MPO = Staph aureus, Pseudomonas cepacia, S marcescens, Nocardia, Aspergillus)
NBT stays colorless on testing (Turns blue if body can produce superoxide. Will turn blue in MPO deficiency)
MPO deficiency
Decreased O2-dependent killing
Increased risk of Candida infxns
NBT turns blue on testing (Superoxide production by NADPH oxidase intact)
SCID causes and signs
Cytokine receptor defects
Adenosine deaminase deficiency -> Buildup of toxic metabolites in lymphocytes
MHC II deficiency -> Defective fxn of B and CD4+ T cells
Susceptible to all infxns. Need sterile isolation. No live vaccines.
Bone marrow transplant (No rejection possible)
X-linked agammaglobulinemia
X-linked BTK (Bruton Tyrosine Kinase) deficiency
Agammaglobulinemia (No Ig)
Dysfxn B maturation
Bacterial, enterovirus, and Giardia infxns after 6m of life
No live vaccines
DiGeorge syndrome
Aplasia of pharyngeal arches 3, 4 due to 22q11 microdeletion
Hypocalcemia from lack of parathyroids
T deficiency from thymic aplasia
Embryonic cardiac defects
IgA deficiency
Mucosal infxns
Assoc w/ Celiac disease, but otherwise fairly benign
Hyper-IgM syndrome
Mutated CD40L on T or CD40 on B Can't class switch -> High IgM; Low IgG, A, E
Wiskott-Aldrich syndrome
X-linked bleeding, rash, recurrent infxns
Mutation in WAS -> Immune cells can’t reorganize actin cytoskeleton (esp. T cells, platelets)
WATER = Wiskott-Aldrich: TTP, Eczema, Recurrent infections
Complement deficiency
Recurrent Neisseria infxns from C5-9 deficiency
C1 inhibitor deficiency
Hereditary angioedema, esp periorbital and mucosal
Autoimmune polyendocrine syndrome
AIRE mutation leads to decreased expression on medullary epithelial cells in thymus of self-Ags -> Increased autoimmune response targeting endocrine glands
Hypoparathyroidism
Adrenal failure
Skin infxns
Autoimmune lymphocytic proliferation syndrome
Mutation causes loss of FAS or FASL -> Self-reactive T cells that should undergo apoptosis cannot
IgG against blood -> Cytopenias
Lymphocytic proliferation -> Generalized LAD
HSM
Lymphoma
Relationship of half-life, volume of distribution, and clearance
t(1/2) = (0.7 * Vd) / Cl
Li-Fraumeni syndrome
Germline p53 mutation -> Various cancer types at a young age
Tuberous sclerosis
AD neurocutaneous disorder w/ incomplete penetrance and variable expression
Numerous benign hamartomas = CNS (mental retardation, seizures), skin (angiofibromas; Shagreen patches = thick, leathery, dimpled skin; Ash-leaf spots lacking melanin), cardiac rhabdomyomas, mitral regurgitation, renal angiomyolipomas
von Hippel-Lindau disease
Hemangioblastomas in CNS (retina, brain stem, cerebellum, spine)
Angiomatosis of skin, mucosa, organs
Bilateral RCC, Pheochromocytomas
Cluster headaches
‘Cluster of recurring attacks’
Unilateral periorbital pain, lacrimation, rhinorrhea w/ 15m-3h repetitive attacks
More common in MALES
Treat w/ sumatriptan
Tension headaches
‘Tension around whole head’
BILATERAL steady pain lasting 4-6h
Treat w/ analgesics, NSAIDs, APAP; Amitriptyline for chronic pain
Migraine headaches
Unilateral pulsating pain with nausea, photophobia, phonophobia, potentially preceding AURA, w/ 4-72h duration
Due to irritation of CN V, meninges, blood vessels -> Release of substance P and CGRP
Abortive therapy = triptans, NSAIDs
Prophylaxis = Propranolol, topiramate, Ca-channel blockers, amitriptyline
Charcot-Marie-Tooth disease
AKA Hereditary motor and sensory neuropathy
AD defective production of myelin sheath proteins in periphery
Associated w/ scoliosis and high/flat foot arches
No hypertrophic cardiomyopathy (vs. Friedrich ataxia)