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38 Cards in this Set
- Front
- Back
What gut abnormality is associated with trisomy 21-downs syndrome?
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duodenal atresia
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What gut abnormality results from the failure of neural crest cell migration into the intestinal wall?
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Hirschsprung disease
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Type of hernia common in children that occurs due to a weakness of the abdominal wall at the umbilicus?
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umbilical hernia
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This condition occurs due to abnormal development of anorectal structures and manifests during the first few days of life when the newborn fails to pass meconium?
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Imperforate anus
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Gut abnormality where organs protrude through a abdominal wall defect and are covered with a peritoneal sac?
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omphalocele
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This is failure of the midgut to rotate counter-clockwise as it returns to the abdominal cavity during embryonic development?
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malrotation
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The most common vitelline duct anomally which results from a partial closure of the vitelline duct, with the patent portion attached to the ileum-a fibrous band may connect this anomally to the umbilicus?
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meckel diverticulum
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The rule of 2's with meckel diverticulum?
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2% of population 2 feet from the ileocecal valve 2 inches in length 2% are symptomatic males are 2xs more likely to be affected
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What two gut anomalies result when the omphalomesenteric (vitelline) duct fails to obliterate during the 7th week of developement?
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enterocysts meckel diverticula
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What are 3 prominent features of marfan's syndrome?
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long-thin extremeties-arachnodactyly occular abnormalities-dislocation of the lens cardiovascular abnormalities-including aortic aneurysm, aortic dissection, and mitral valve prolapse
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This syndrome is due to a defect in fibrillin-an extracellular glycoprotein that is abundant in the zonular fibers of the lens, periosteum, and the aortic media?
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marfan's syndrome
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Bone abnormality caused by impaired osteoclastic bone resorption and is characterized by increased bone thickness and density?
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osteopetrosis
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This arthritic disease results in fusion of the spine and sacroiliac joints as well as arthritis of the hips, shoulders, and costochondral joints-it's also associated with HLA-B27?
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ankylosing spondylitis
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This bone disease results from defects in genes encoding type 1 collagen-results in fractures, blue sclera, and dental abnormalities?
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osteogenesis imperfecta
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One of the most common causes of dwarfism and results from a genetic defect in the fibroblast growth factor receptor 3 gene?
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achondroplasia
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The primary dfect of this condition is abnormal chondrocyte proliferation at the growth plates of long bones-causes short limbed dwarfism?
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achondroplasia
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An autosomal recessive disorder resulting from a defect in DNA repair genes-the DNA of these patients is hypersensitive to ionizing radiation?
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Ataxia-telangiectasia
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Manifestations of ataxia-telangiectasia?
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cerebellar ataxia oculocutaneous telangiectasias repeated respiratory infections increased incidence of malignancy
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In this disease, neurofibrillary tangles are seen in the neocortex?
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alzheimer's disease
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Loss of neurons in the substantia nigra is characteristic of this disease?
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parkinson disease
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Atrophy of the caudate nucleus is seen in this disease?
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huntington's disease
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Posterior column degeneration can be seen in these two conditions?
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vit B12 deficiency syphilis
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The presence of lewy bodies and loss of neurons in the substantia nigra are associated with this disease?
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parkinson disease
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Name 5 inherited disorders caused by deficient DNA repair enzymes?
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ataxia telangiectasia xeroderma pigmentosum fanconi anemia bloom syndrome hereditary nonpolyposis colorectal cancer (HNPCC)
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This coniditon arises due to a defect in DNA mismatch repair enzymes and leads to an increased susceptibility to colon cancer?
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hereditary nonpolyposis colorectal cancer (HNPCC)
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This condition is associated with hypersensitivity of DNA to crosslinking agents?
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fanconi anemia
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In this condition, DNA is hypersensitive to UV radiation causing premature skin aging and an increased risk of skin cancer?
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xeroderma pigmentosum
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Name three measures of central tendency?
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median, mean, and mode
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This value is the number that seperates the right half of an ordered data set from the left half?
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median
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What is the median of the data set 75, 75, 80, 90, 110, and 110?
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(80+90/2)=85
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To find this value, you add all of the observations of a data set and divide that sum by the number of observations?
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mean
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This is the most frequent value of a data set?
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mode
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This molecule is a portion of proinsulin. It is packaged with insulin into secretory granules and is secreted in equimolar concentrations with insulin?
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c peptide
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What are some risk factors for osteoporosis; AKA: decreased bone mass?
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smoking menopause corticosteroid therapy physical inactivity caucasian race low body weight alcohol use
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In what organ does hypoxemia cause a vasoconstrictive response?
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the lung
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What is unique about the pulmonary vascular bed?
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it vasoconstricts during hypoxemia to divert blood away from underventilated areas
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Type of viral gene exchange that occurs through the crossing over of two double stranded DNA molecules?
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recombination
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This process describes the mixing of genome segements in two or more segemented viruses that infect the same host cell?
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reassortment
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