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Doctor insights on: Eds Screening

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Dr. Brad Goldenberg
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Screening (Definition)

Examples are: colonoscopy for colon polyp or cancer; mammograms for breast lesions or cancer; psa a blood test that could indicate enlargement of cancerous prostate tissue; blood sugar or hemoglobin a!c for diabetes. Many think that scanning the whole body will pick up a cancer--in all likelihood, it will not. There also is no good blood test, yet, ...Read more


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Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Several features: Features suggestive of marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... ...Read more

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Do 10-25% of those with classical eds who tested negative for vascular eds have vascular issues?

Do 10-25% of those with classical eds who tested negative for vascular eds have vascular issues?

Depends: Would not focus so much on percentages, but instead would present your symptoms to your rheumatologist. Would try to seek out eds centers who understand the condition more than most and have seen a larger volume of eds patients (usually at university hospitals). ...Read more

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Any genetic counselors! who gets eds?

Any genetic counselors! who gets eds?

Rare problem: Ehlers danlos syndrome is a collection of at least 10 separate entities that have in common an abnormality of collagen production. The inheritance patterns include dominant, recessive, x-linked & has been reported as a new mutation. There is broad variability of expression within each subtype.The prevalence estimates range from 1/5000 to 1/100, 000 depending on type. ...Read more

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Can embryo screening identify hereditary heart disease?

Can embryo screening identify hereditary heart disease?

Sometimes: Hereditary heart diseases caused by a single gene may screened for an identified using ivf with pgd. Those without a known single gene cannot. ...Read more

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Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

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ENA test screened for SS-A, SS-B, RNP, Sm, Scl-70 & Jo-1. Negative result. I'm ok?

ENA test screened for SS-A, SS-B, RNP, Sm, Scl-70 & Jo-1. Negative result. I'm ok?

May be: Why were these tests done? You must have had some symptoms for your doctor to order these tests. Negative results on blood tests are not an assurance that there is no disease. Please follow your doctor's advice for follow-up care. ...Read more

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Do ovum donors undergo genetic testing or pedigree evaluation?

Yes: Check with your rei specialist for details, but all ovum donors would be asked to report a detailed family history and would be tested for common recessive disorders, such as cystic fibroisis. Many programs would also request more extensive testing including a panel of 100 such recessive diseases, including such problems as spinal muscular atrophy, the askenazi jewish panel, fragile x, & more. ...Read more

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Are clinical breast exams effective screening tools in women under 40 with no first degree family history?

Are clinical breast exams effective screening tools in women under 40 with no first degree family history?

Not very good.: No, they aren't that good. Exams have a low pick up rate compared to radiological AND the clinical ones are generally done very infrequently AND the overall risk is so very low.... so.. 40-45, CBE has some advantages over radiological and the two together are best. http://www.ncbi.nlm.nih.gov/pubmed/9709288 under 40... ONE or a FEW CBE to learn self-exam techniques, otherwise not so much ...Read more

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Celiac disease screening involves what kinds of tests?

Celiac disease screening involves what kinds of tests?

Bloodwork: Celiac disease is usually screened for (in the right patient) with blood tests. Depending on the results of these blood tests, you may be referred to a gastroenterologist to get a biopsy to confirm the diagnosis. You have to be on a regular diet (not gluten-free!) for these tests to be valid. ...Read more

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What percentage of patients do prenatal genetic screening?

Unknown: There are no solid statistics on this issue. If one is against pregnancy termination, then there is no need to do any prenatal testing at all as this testing is to indicate the risk of a defective infant. It is a personal choice. ...Read more

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Who should undergo genetic counseling for hereditary non-polyposis colorectal cancer (hnpcc)?

Who should undergo genetic counseling for hereditary non-polyposis colorectal cancer (hnpcc)?

Family history: There are a number of different inherited defects that cause hnpcc. A person with strong family history of colon cancer, occurring at a young age should seek counseling. ...Read more

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What family members show signs of x-linked dominant disorder?

What family members show signs of x-linked dominant disorder?

Depends on sex: Any males with the gene will have the disorder assuming the gene is expressed. So will a female. A female with the disease and one x with the gene has a fifty fifty chance of passing it on to her children. If both of her xs have the gene, all children will get the gene. A male with the gene has a fifty fifty chance of passing it on to his daughters but cannot pass it on to his sons. ...Read more

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Screening for down's syndrome mandatory?

Screening for down's syndrome mandatory?

Not necessaraly: Early pregnancy screening for such things as down syndrome and open spine defects is part of the fabric of good prenatal care. It provides information to physician & parent about possible complications of pregnancy that allows planning for a complex outcome. I don't know any OB that would require you be screened, but most would want you to sign a waver acknowledging your decision not to have it. ...Read more

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How does one perform colonoscopy in pt with duhamel procedure from hirschsprungs. Genetic mutation for fap present.?

How does one perform colonoscopy in pt with duhamel procedure from hirschsprungs. Genetic mutation for fap present.?

Not too much problem: In duhamel procedure, for aganglionic colon ( hirschsprung's disease) distal aganglionic colon is anatomosed to proximal ganglionic ( good ) colon side by side anastomosis excessive distal colon will be crushed, shold not be a problem to do endoscopy. ...Read more

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Could I have type 3 (hypermobility) ehlers danlos syndrome or hypermobility syndrome? My parents don't have eds.

Could I have type 3  (hypermobility) ehlers danlos syndrome or hypermobility syndrome? My parents don't have eds.

Unlikely.: Ehlers danlos is an inherited condition, so if it doesn't run in your family, it's very unlikely that you have it. If your joints are unusually flexible you may just be more limber than normal. But if you are worried about it, see your doctor and find out for sure. ...Read more

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Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial  trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more