In-Womb Treatment For Down?s Syndrome RedOrbit, TX - Scientists are hoping to develop a treatment for mothers who are aware their unborn child has Down?s syndrome. In a study with mice, scientists used gave ...
Having a baby with Down?s is OK with us Essex Echo, UK - For some, it may result in a termination, but in cases where Down?s syndrome is identified, increasing numbers of parents are choosing to keep the baby. ...
Bright Beginnings: The Center for Children may be closing South Carolina Now, South Carolina - The children have varying disabilities that include autism, hydroencephaly, seizure disorders, and Down syndrome. ?Children are being born with disabilities ...
Caray will be missed Gadsden Times (subscription), AL - ...Gene Stallings, was head coach at the University of Alabama during the 1990s. John Mark, who died Saturday at the age of 46, was born with Down syndrome...
Father-son bond evident in every gaze Montgomery Advertiser, AL - Aug 4, 2008 In the 1960s, children born with Down syndrome, a chromosomal disorder, often were placed in institutions. Call it warehousing. That's what it really was. ...
Sequenom Reports 2008 Second Quarter Financial Results MarketWatch - Jul 30, 2008 "We have taken major steps toward the introduction of our noninvasive prenatal test for Down syndrome, based on our SEQureDx(TM) technology," commented ...SQNM
Health: Brave face Scotland on Sunday, UK - Aug 2, 2008 He was born with Moebius syndrome, which means the muscles in his face are paralysed and he can't raise the corners of his mouth. ...
Might science soon help stave off the decay of old age? Globe and Mail, Canada - Aug 1, 2008 He has looked at the role senescent cells play in Werner's syndrome, a rare genetic disorder marked by signs of accelerated aging. ...
Crimson Tide Wiregrass alumni chapters set to meet Trading Markets (press release), CA - Aug 4, 2008 John Mark was born with Down syndrome and suffered from health problems related to a congenital heart defect, according to the Associated Press. ...
Down syndrome phenotypes: the consequences of chromosomal imbalance - JR Korenberg, XN Chen, R Schipper, Z Sun, R Gonsky … - Proc Natl Acad Sci US A, 1994 - pubmedcentral.nih.gov ... and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila
segmentation gene, runt. ... Free proximal trisomy 21 without the Downsyndrome. ...
Brain interleukin 1 and S-100 immunoreactivity are elevated in Down syndrome and Alzheimer disease. - WS Griffin, LC Stanley, C Ling, L White, V MacLeod, … - Proceedings of the National Academy of Sciences of the …, 1989 - pubmedcentral.nih.gov ... These data suggest that increased expression of S-100 in Downsyndrome, resulting
from duplication of the gene on chromosome 21 that encodes the beta subunit ...
… with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome … - CJ Epstein, KB Avraham, M Lovett, S Smith, O Elroy … - Proceedings of the National Academy of Sciences of the …, 1987 - pubmedcentral.nih.gov ... These animals provide a unique system for studying the consequences of increased
dosage of the Cu/Zn-superoxide dismutase gene in Downsyndrome and the role of ...
Pendred syndrome is caused by mutations in a putative sulphate transporter gene(PDS) - LA Everett, B Glaser, JC Beck, JR Idol, A Buchs, M … - Nature Genetics, 1997 - nature.com ... Mutations of the down-regulated in adenoma (DRA) gene cause congenital ... An exonic
mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. ...
Last Updated: 2006-07-06 15:45:03 -0400 (Reuters Health)
WASHINGTON - A gene mutation that shrinks brain cells may be responsible for the mental retardation of Down's syndrome, U.S. researchers reported on Wednesday.
The finding suggests there may be a way to interfere with or even reverse the additional mental decline often seen as people with Down's syndrome age. The finding, published in the journal Neuron, also may apply to Alzheimer's disease, the researchers said.
"If we can decrease the expression of this gene we may be able to provide something more than supportive care to people with Down's syndrome," said neurologist Dr. William Mobley of the Stanford University School of Medicine and Lucile Packard Children's Hospital in California. Reducing gene expression turns down the activity of a gene.
Down's syndrome is the most frequent genetic cause of mental retardation and affects one out of 800 babies. It is caused when there is an extra copy of chromosome 21, making three instead of two.
It causes learning difficulties and sometimes childhood heart disease and leukemia. Most people with Down's syndrome develop Alzheimer's disease by the age of 40.
The researchers worked with genetically engineered mice to find the gene, which is called App -- short for amyloid precursor protein. Mutations are known to cause early-onset Alzheimer's disease in otherwise healthy people.
Like people with Down's, the mice had three abnormal copies of the App gene. When the researchers deleted the third copy of App in the mice, the animals became more normal.
"We're now investigating ways in which we might be able to turn down App expression," Mobley said in a statement.
"It's not even necessary to turn it off completely. All we need to do is to reduce it by one third, from 150 percent of normal back down to 100 percent," said Dr.Ahmad Salehi, who led the study.
The researchers stressed that deleting the third copy of App did not restore the mice to normal, so other genes must also affect the brain decline.
"First we need to figure out at a molecular level how App works in Down's syndrome," Mobley said. "Then we need to examine other genes that might be involved and test possible compounds in mouse and human cells. If we are able to do all that, we might begin to think of helping children and adults with Down's syndrome to develop and age more normally."
Last Updated: 2006-07-06 16:53:03 -0400 (Reuters Health)
By Kim Dixon
CHICAGO - Hospitals are asking the U.S. Medicaid agency to soften a new law requiring people to prove they are U.S. citizens in order to get benefits under Medicaid, the government's health insurance plan for the poor.
The law, which went into effect on July 1, will be the subject of a hearing on Friday at the U.S. District Court in Chicago. Groups representing low-income individuals in a potential class action are challenging the constitutionality of the law and are seeking a temporary restraining order.
It is intended to prevent illegal immigrants from getting government health care, but hospitals and advocates for the poor say it will prevent legal citizens from getting Medicaid, the health plan for the nation's 55 million needy.
Under the law, Medicaid recipients now need to provide primary documents or they will not receive government-sponsored health insurance under Medicaid. States will lose federal matching funds if they do not comply.
Hospitals and other health care providers, for their part, get a good part of their revenue from Medicaid and worry about lost reimbursement. In 2004, the average percentage of revenue coming from Medicaid at hospitals was about 15 percent, according to the American Hospital Association, which represents most U.S. hospitals.
"We are concerned that states will be overly cautious in interpreting (government regulations) and err on the side of not enrolling eligible individuals," several hospital trade groups, including the American Hospital Association and the Federation of American Hospitals, wrote in a letter to U.S. Health and Human Services Secretary Mike Leavitt.
The letter, dated June 28, asks the agency to require states to help vulnerable populations least likely to comply, instead of encouraging them to do so, and also to provide people with extra time to produce the documents.
Hospitals are facing major challenges in their ability to collect payments, as the numbers of individuals without health insurance rises, now at 46 million people.
Although illegal immigration plays a part in the rising medical debt issue, it is separate from whether the law will prevent eligible citizens from Medicaid, the hospitals said.
"This is still one of the major financial challenges facing hospitals, and obviously border hospitals are very affected by it," said Richard Corsch, a spokesman for the Federation of American Hospitals, which represents most for-profit hospitals.
But the industry's concern "really has to do with making sure people who are eligible are able to get Medicaid. Frequently these people are not able to get their hands on adequate documentation, or are born in a setting where it is not available," he said.
Critics say the law will hurt the most vulnerable groups, such as those in nursing homes and the mentally ill, who may be least likely to have original documents such as birth certificates.
They cite an analysis by a nonprofit that between 3 million and 5 million Medicaid recipients will not be able to provide the documentation. The government cites an analysis they said put the number at just 35,000.