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26 Cards in this Set
- Front
- Back
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What is the pathophysiology of Down Syndrome?
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Trisomy 21. May be caused by translocation or nondisjunction.
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Name the clinical manifestations of Trisomy 21.
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slanted eyes, dysplastic ears, big wrinkled tongue.
congential heart disease, megacolon, leukemia. short broad hands with simian crease, gap between 1st and 2nd toes. |
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Is trisomy inheritable?
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Only if a parent has balanced translocation.
Those with balanced translocation is free of disease phenotype, but risks children with trisomy. |
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What are rsik factors for trisomy?
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Age.
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How do you screen for Down Syndrome? Diagnose?
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- increased neck thickness of fetus (nuchal tranlucency)
diagnose - amniocentesis |
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Describe pathophysiology of Turner Syndrome.
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loss of part or all of the X chromosome (females only. males would not survive)
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T or F. Intelligence is normal for Turner Syndrome patients.
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True. ingelligence is usually normal, but some learning/social problems.
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What are some classic physical manifestations of Turner Syndrome?
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small stature, short fingers and neck. cleft palate.
Widely carried arms, widely spaced nipples and poor breast development. Coarctation of aorta and lymphatic obsruction. |
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How would you tell if a fetus has Turner Syndrome?
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- cystic hygroma.(big cysts?) on the back of the neck
- edema -short femur - coarctation of arch |
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T or F. All Turner syndrome patients basically have the same characteristics/
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False. - some women may be mosaic. ie may have normal body phenotype but infertile/delayed puberty.
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define neoplasia.
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abnormal cell proliferation.
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abnormal cell proliferation is known as
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neoplasia = new growth
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How do does carcinogenesis occur?
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Initiation-Promotion-Progression Theory states that there must be an initiator (ie mutation) coupled with CONTINUED exposure to a promoter (ie chronic inflammation/hormones/anything that stimulates cell prolif). A cancerous growth undergoes progression once growth is autonomous.
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What are the cancer causing genes?
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alterations in these genes may cause cancer:
oncogenes - encode proteins that regulate cell growth mutator genes - involved in DNA repair of mutations tumor suppressor genes - involved in regulating overproliferation and apoptosis |
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OGive one theory to how cancerous cells can live on 'forever'
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Cells age by telomere shortening, until cap falls off and they die through apoptosis. mutated cancer cells activate telomerase, which adds to the length of telomeres, making them invincible.
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What are two defining characteristics of neoplasms?
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autonomous unregulated growth
loss of differentiation (anaplasia) |
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How is anaplasia and malignancy related?
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the less differentation a neoplasm has, the more malignant it is
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What are paraneoplastic syndromes? example?
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conditions that a neoplasm indirectly induces. ie, ectopic hormones
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are ectopic hormones lethal?
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they can be because they do not have a negative feedback mechanism
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differentiate benign and malignant tumors.
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benign - well differentiated, and local growth
malignant - not well differntiated, invasive and destructive |
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How does cancer spread?
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- local growth - within tissue of origin
- direct extension - neighboring tissues -seeding - direct extension along membranes of cavities - metastasis - distal movement through blood/lymph |
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what is the mechanism of metastases?
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1. break through basemnet membrane
2. gain access to blood/lymph 3. attach to distal tissues 4. angiogenesis at new site |
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What determines the final location of a metastatic neoplasm?
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depending on the tissue of origin, the neoplasm has a preference for specific types of tissues (organ tropism)
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What is organ tropism?
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preference of metastatic neoplasm to attach to a certain type of tissue
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what is carcinoma in situ?
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neoplasms that just "sits" in local tissues
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How are cancers classified?
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TNM
T = tumor size N = lymph node involvement M = metastatic each letter associated with number (higher = bigger/more extensive) eg T1 = small tumor/ N0 = no lymph nodes involved / M1 = distant metastases tumor anaplasia is graded from I (well differentiated) to IV (highly undifferentiated) |
