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38 Cards in this Set

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