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45 Cards in this Set
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- Back
- 3rd side (hint)
Tuner's Syndrome
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- small stature
- webbed neck - coarctation of the aorta - poor breast development - widely spaced nipples - wide carrying angle of arms - rudimentary ovaries (gonadal streak) - primary amenorrhea - multiple pigmented nevi |
- 1:2000 females
- amenorrhea = ovaries gone by puberty? - Most have monosomy X (XO) - Some have structural defects of X - Some are mosaics XO/XX - Many spontaneously abort |
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Kleinfelter's Syndrome
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- incr. FSH, LH
- tall, slim, eunuchoid stature - gynecomastia - feminized habitus - testicular atrophy |
- 1:500 males
- 2 or more X with 1 or more Y - 82% XXY - 15% mosaics (XXY/XY) |
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True hermaphrodite
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- right sided ovotestis, vas deferens, epididymis
- left sided ovary, hemiuterus, fallopian tube - hypospadius |
- True = both ovarian AND testicular tissue
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Down's Syndrome
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- flat occiput, growth failure, mental retardation
- congenital heart disease, megacolon - short, broad hands with "simian crease" - risk of acute lymphoblastic leukemia - slanted eyes, epicanthal fields, "brushfield spots" |
- 1:700 newborns
- trisomy 21 - measure with "triple test" = maternal alpha-fetoprotein, uncongugated estriol, hcg = 70% detection (amniocentesis to confirm) - 95% trisomy 21 due to non-disjunction in meiosis in oocyte- maternal age effects - 4% translocation type- may be familial - 1% mosaics due to non-disjunction in embryo- less severe phenotype |
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Edward's Syndrome
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- mental retardation, prominent occiput
- micrognathia - dysmorphic ears - "rocker bottom" feet - congenital heart defects - renal malformations |
- trisomy 18
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Patau Syndrome
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- mental retardation, microcephaly
- microphthalmia - cleft lip and palate - polydactyly - cardiac defects - umbilical hernia - "rocker bottom" feet |
- trisome 13
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Fragile X Syndrome
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- mental retardation
- long face - large ears - large testicles |
- most common mental retardation
- due to trinucleotide repeat amplification (FMR-1) - 1:1550 m, 1:8000 fm - similar to "X-linked" but CARRIER males, affected females - anticipation |
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Marfan's Syndrome
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- tall, long fingers (arhnodactyly)
- kyphoscoliosis - pectus excavatum - lens dislocation - dilated aortic ring, high risk of aortic dissection |
- 1:5000 affected
- Fibrillin 1 gene: acts as scaffolding for elastin fibers - Increased sensitivity to transforming growth factor beta |
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Ehlers-Danlos Syndrome
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- stretchy, fragile skin
- lax ligaments with joint dislocations |
- affectd structure or function of collage
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Neurofibramotisis 1
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- multiple neural tumors
- pigmented skin lesions (cafe' au-lait) - pigmented iris spots (Lisch nodules) - axillary freckles - possible mental retardation - "can of worms" gross morophology |
- “Von Recklinghausen’s disease”
1:3000 individuals - may have elevated risk of other tumors |
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Familial Hypercholesterolemia
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- severe atherosclerosis
- defective LDL receptor - possible early death from severe atherosclerosis if homozygote |
- heterozygote: 1/500; homozygote: 1/1,000,000
- serum chelesterol 300-600 mg/dl (2-5x nl) |
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Galactosemia
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- cataracts
- brain damage - decr. galactose-1-phosphate uridyl transferase - liver can have fatty change to cirrhosis |
- tx = just withold galactose from diet
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Phenylketonuria (PKU)
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- decreased pigmentation
- deficiency of phenylalanine hydroxylase - increased phenylalanine levels => brain damage |
tx = low phenylalnine diet during development
- MUST treat affected females in pregnancy |
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Cystic Fibrosis
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- thick, sticky secretions in lungs and pancreatic ducts
- recurrent pulmonary infections, sinusitis - chronic pancreatitis - malabsorption - severe enough => cirrhosis of liver - male sterility - meconium ileus in newborn - defective chloride channel |
- test with sweat chloride test
- pancreatic blockage (w/ atrophy and exocrine failure) |
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Gaucher's Disease
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- deficiency of glucocerebrosidase
- hepatosplenomegaly - infant +=> CNS involvement, early death - <name> cells = "crinkled paper" cytoplasm |
- european jewish ancestry
- pale cytoplasm |
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Tay-Sachs Disease
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- deficiency of Hexosaminidase A => with accumulation of Gm2 gangliosides
- progressive motor and mental deterioration with blindness and death - "cherry red spot" on macula of eye |
- european jewish ancestry
- pale cytoplasm |
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Niemann-Pick Disease
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- sphingomyelinase deficiency => accumulation of sphingomyelin
- type A = infantile, CNS and visceral involvement, death in early childhood - type B = organomegaly, NO CNS involvement, massive splenomegaly |
- pale cytoplasm
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Alkaptonuria (Ochronosis)
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- black urine
- black connective tissue (tendon, bone) - joint spaces stain black = early osteoarthritis |
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Prader-Will Syndrome
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- mental retardation
- short stature - hypotonia - obesity with hyperphagia - hypogonadism |
- Paternally derived deletion
- maternal copy of prader-willi gene is non-functional (due to imprinting) - epigenetic silencing (via methylation) |
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Angelman Syndrome
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- mental retardation
- ataxic gait - seizures - inappropriate laughter - "happy puppet" |
- maternally derived deletion
- paternal copy of angelman gene is non-functional (due to imprinting) - epigenetic silencing (via methylation) |
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Necrotizing Enterocolitis
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- dead colon resulting from severe hypoxia
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Hyaline Membrane Disease
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- lack of surfactant => alveolar collapse (atelectasis)
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Broncho-Pulmonary dysplasia
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- overinflated and underinflated areas of lung w/ squamous metaplasia and pulm. HTN
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Neonatal Respiratory Distress Syndrome
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- hyaline membrane disease
- hypoxemia - if chronic => broncho-pulmonary dysplasia - hypoxic complications -- retinopathy of prematurity -- brain hemorrhages -- necrotizing enterocolitis |
- tx = synthetic surfactant
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Sudden Infant Death Syndrome
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- unexpected death of an infant with "negative" autopsy
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- greatly decreased incidence with "back to sleep" campaign (babies put to sleep on backs)
- no co-sleeping |
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Fetal Hydrops
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- massively edematous dead baby
- common in many still born infants - potential anemia, heart defect, pulm. problem, chromsome problem, or infection |
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Kernicterus
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- high levels of bilirubin in brain damaging neurons
- hemolytic disease of the newborn |
- hemolytic anemia = break down of RBCs => lots of bilirubin in blood
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TORCH Complex
- Toxoplasmosis - Other - Rubella - CMV - HSV - Syphillis |
- microcephaly
- microphthalmia, cataract, conjunctivitis, chorioretinitis - congenital heart disease - congenital lung disease - hepatomegaly & jaundice - polymicrogyria |
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Oligohydraminos Sequence
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- clubbed foot
- hydronephrosis (possible renal agenesis) - pulmonary hypoplasia (resp. insufficiency) - possible uretral atresia - Potter's Facies - flexion contractures |
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Childhood Benign Tumors
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- Congenital "Strawberry" Hemangioma
- Congenital Nevus - Lymphangioma (cystic hygroma) |
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Childhood Malignant Tumors (Cancers)
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- leukemias and lymphomas
- brain tumors primitive: - hepatoblastoma - Wilm's tumor - Retinoblastoma |
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Bruton's X-Linked Agammaglobulinemia
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- presents at 6 months of age
- recurrent bacterial infection (H.influenza,Strep.pneumonia,S.aureus) - susceptible to some viral infections, especially GI entering viruses like enterovirus - all classes of immunoglobulins are depressed (no BCells in circulation => no plasma cells either) - underdeveloped germinal centers (atretic follicles) - TCell mediated rxns are normal - mainly affects males |
- BCell defect => maturation stopped after rearrangement of heavy chain genes => nl. lvls of PRE-BCells, but virtually no B or Plasma cells
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IgA Deficiency
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- recurrent respiratory, GI, GU infections
- anaphylactic shock from blood transfusion - severely decreased serum and secretory IgA - presentation in adulthood |
- 1/600 european descent
- normal lvls of IgA BCells, but they're not properly differentiated (expressing IgM and IgD) |
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Hyper IgM Syndrome
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- very low IgG, NO IgA or IgE
- normal IgM and IgD levels |
- failure of isotype switching from IgM
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Common Variable Immunodeficiency
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- recurrent sinopulmonary infection, herepesvirus infection, enterovirus, Giardia
- high frequency of autoimmune disorders and malignancy (especially lymphoid) - hyperplastic lymphoid follicles |
- TCell signalling defect
- manifests later in life than Bruton's, and symptoms are less severe |
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DiGeorge Syndrome
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- failure of development of 3rd and 4th pharyngeal pouches
- thymic hypoplasia/aplasia - recurrent viral infection in pts w/ severe hypoplasia (thymus educates TCells!) - possibly lacking parathyroid glands - commonly have congenital heart disease - other organs possibly affected (esophageal atresia, bifid uvula, upper limb malformationss) - "elf-like" facies (hypertelorism (wide set eyes), abnormally shaped mouth (loss of upper bow of lip), low set ears, small chin) |
- gene deletion on chromosome 22 (rarely familial)
- graft vs host disease may develop in aplastic DiGeorge |
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Severe Combined Immnuodeficiency (SCID)
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- (infants in first few months of life) recurrent thrush, diaper rash, failure to thrive
- diarrhea, pneumonia, otitis, sepsis, skin infection - severe opportunistic infections - transplacental transfer of maternal TCells or nonirradiated blood products cause graft vs host disease - routine immunization can be fatal - bone marrow transplant or gene therapy needed to survive |
- lymphopenia (due to lack of functioning TCells)
- no response to mitogens or antigens - BUBBLE BOY!!!!!!! |
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Type I Hypersensitivity
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- immediate type-reaction
- antigen reaction with IgE Ab's bound to mast cells (degranulation) - hives - anaphylaxis - hay hever causes: - food allergy - some asthma |
- more Th2 phenotype favoring when less pathogens and such for the Th1 to deal with
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Type II Hypersensitivity
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- Ab's involved => IgG or IgM
- Ag on cell surface or extracellular matrix - results in: Ab-dependent cellular cytotoxicity (ADCC) or Ab-mediated cellular dysfunction causes: - Graves Disease (Ab to TSH receptor) |
- may activate complement
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Type III Hypersensitivity
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- immune complex disease
- antigen-Ab complexes deposited in tissues - activation of inflammatory rxn leads to tissue damage causes problems in: - kindney = glomerulonephritis - joints = arthritis - vessels = vasculitis - skin = rash |
- moderate Ab excess is the problem (too small for mac's to eat, too big to escape places like joints)
- detected by Immunoflouorescence microscopy |
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Type IV Hypersensitivity
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- TCell mediated hypersensitivity
- delayed type - TCell mediated cytotoxicity T8 lymphs: - transplant rejection - elimination of virally infected cells - killing tumor cells causes: - granulomas - contact dermatitis (POISON IVY!) |
- poison ivy on first exposure has its tiny hapten attach to a protein and active a bunch of THelper cells (sensitization) => next exposure, boom!
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Systemic Lupus Erythematosis (SLE)
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- skin rash (butterfly wing on face)
- oral ulcers - nephritis - anemia, thrmobocytopenia, lymphopenia - myalgia, arthritis - osteoporosis&avascular necrosis dx with: - positive ANA: 95% - Ab's against double stranded DNA and smith antigen - many other auto-antibodies: blood cells, false+ syphilis test, proteins complexed to phospholipids - polyclonal increase in gamma globulins - may have low complement in active disease |
- prototypic systemic autoimmune disease
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Progressive Systemic Sclerosis (scleroderma)
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- autoimmune chronic inflammation
- widespread damage to small vessels - esophageal stricture - pulmonary fibrosis - vascular renal damage - raynauds phenomenon (discoloration of fingers) - progressive interstitial fibrosis in skin and other organs - sclerosis of subcutis (thick bound down skin = THICK DERMIS), calcinosis cutis - cause: TCells stimulating fibroblasts to make collagen |
- true mechanism unknown...
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Polymyositis (dermatomyositis)
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- proximal muscle weakness
- lymphoid inflammation in muscle with atrophy - about 1/2 have +ANA - dermatomyositis: muscle disease + periorbital skin rash |
- dermatomyositis has association with cancer, so think "may be presenting sign of cancer"
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Sjorgren's Syndrome
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- dry mouth and/or dry eyes
- lymphoid inflammation and destruction of salivary and/or lacrimal glands - iin 50-80% +ANA, tend to have "SS-A" or "SS-B" Ab's - increased risk of lymphoma in affected organs |
- rare to have a "salivary gland lymphoma", since lymphocytes don't usually hang around glands
- so if you find a salivary gland 3x the normal size (especially on only one side), biopsy that shiz! |