Downsyndrome.com

When it comes to treating deep vein thrombosis, injecting the clot-busting drug alteplase (rTPA) directly into clots in the legs reduces the risk of complications and recurrence, a small U.S. study suggests.

Adding rTPA to the standard treatment of blood thinners appears to completely destroy the clots, something not achieved by blood thinners alone, according to the researchers.

“The anticoagulation therapy that you get for DVT is pretty good at protecting you from pulmonary embolism, which is the life-threatening part of DVT,” said study author Dr. Richard Chang, of the National Institute of Health’s Department of Diagnostic Radiology.

DVT is the formation of blood clots in veins deep within the legs. These clots can turn life-threatening when they become dislodged and travel through the veins into the lungs, where they can block pulmonary veins, causing breathing problems and even death. Some 250,000 people in the United …

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A day before the start of the Annual Meeting of the World Economic Forum (WEF) at Davos, the world’s economic equilibrium was shaken by stocks falling across the board from Hong Kong to New York. It required an unprecedented cut in lending rates by the US Federal Reserve (the Fed) to shore up the world’s badly shaken markets.

Whether the recovery can be sustained is still in the future. The world’s elite in commerce, finance and manufacturing were sombre but did not show apprehension of an imminent recession. Economic apocalypse did rear its ugly head frequently during discussions …

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It’s said that vampires suffer from a syndrome called arithmomania or an obsessive love of counting, so much so that to escape a vampire you just need to throw loads of cloves of garlic on the floor and the vampire can’t resist counting them, allowing you to make a hasty exit. It was this obsession with counting that inspired my favourite Muppet character, the vampire Count von Count. But I’m actually not in Transylvania to track down vampires but another local inhabitant who was obsessed with mathematics: János Bolyai. At the age of 21 this brilliant mathematician discovered that Euclid’s geometry was not the only possible geometry. He constructed a totally consistent universe where triangles have angles that add to less than 180 degrees and parallel lines do strange things that Euclid never thought possible. Writing to his father in 1823 from the army base where he was stationed at the time, he described the amazing experience of ‘creating out of nothing a totally new world’. It was the beginning of what we now call non-Euclidean geometry, a geometry that seems to fit the shape of space far better than Euclid’s. I’ve spent the day in Bolyai’s hometown of Tirgu Mures filming a sequence for a new series I’m making for the BBC on the history of mathematics. Our ten-month journey round the world in 80 theorems will attempt to condense 7,000 years of mathematics into four one-hour programmes that will be shown this autumn.

I think I actually saw a vampire today. Just next to where we were filming, this woman leant down next to a car and bore her teeth in the car’s wing mirror. Fangs! Huge fangs!

Her canines were enormous and definitely very pointy. However, she almost lost all her teeth when the car suddenly reversed, the wing mirror knocking her to the ground. But as I relate my drama to my son Tomer on the phone that evening, he calmly stops me in my tracks and says it can’t have been a vampire.

Rather crestfallen at his cool reception of such exciting news, I ask why not. ‘Vampires can’t look in mirrors and it was the middle of the afternoon.’ I must admit he had me there.

‘Perhaps she was some non-Euclidean sort of vampire that doesn’t obey the classical rules of vampirism, ‘ I replied weakly. Tomer was more impressed that we were staying the night in Cluj, home to the Cheeky Girls.

Three countries in one day is a bit much: Romania, Austria, then Germany. The bulk of the day is spent in Vienna, where we are on the search for the pre-war haunts of the 20th-century logician Kurt Gödel. Almost as dramatically as Bolyai, Gödel’s discoveries rocked mathematics to its foundations. Gödel managed to prove the deeply unsettling fact that within any logical system for mathematics there will always be statements about numbers that are true but which can’t be proved. It was a discovery that went against everything mathematicians had believed since the Ancient Greeks. Both Bolyai and Gödel went mad in later life, further fuelling the stereotype which seems to haunt mathematicians.

Gödel’s mathematics was reflected by the politically unsettling situation that surrounded him at the time. We film a sequence on the steps where Gödel was attacked by a group of Nazis, unhappy that Gödel was associating with so many Jewish academics. He was saved by his girlfriend, a dancer from a local nightclub. My director wants to film a sequence in a strip joint to illustrate how Gödel met his girlfriend but our flight to Germany leaves before any of the Viennese clubs open. I’m spared that embarrassment.

I’m publishing a new book this month.

Called Finding Moonshine, it combines the historical story of symmetry with a more personal narrative of what I do all day as a mathematician. It’s an exciting moment not least because, being my second book, it qualifies me to play for the England Writers Football Team. Last weekend was to have been my debut match, but owing to excessive rain the pitch was waterlogged and the match cancelled. However, Recreativo Hackney, my Sunday league team, isn’t afraid of getting muddy and Sunday was our derby match. Our home ground is the Hackney Marshes and our arch rivals are the Hackney Marshans. It’s the Tottenham v. Arsenal, the Everton v. Liverpool, the Celtic v. Rangers of our division. Not least because the Hackney Marshans are also the MK Dons of our league: their home ground isn’t even the Hackney Marshes any more but some godforsaken ground in west London. The two-nil spanking we gave them on the Marshes is the least they deserved for defecting west.

A memorable weekend: one of my fouryear-old twin daughters, Ina, cycled for the first time without stabilisers. The mathematics of why a bike stays upright is so complicated that it’s responsible for some weighty articles in the Transactions of the Royal Society. Ina plunged off into the distance, oblivious to the maths she’s just implemented. Her sister Magaly looks on rather jealously. She’s the thinking half of the duo in contrast to her reckless sister, and will require a little more persuasion before she’ll let me remove her stabilisers. I show her that even without a rider you can fire the bike off and as it tilts to one side it suddenly pulls itself upright, defying gravity. She’s still not convinced.

Copyright Spectator Jan 26, 2008
Provided by ProQuest Information and Learning Company. All rights Reserved

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Sharp HealthCare IRB Approves Study

SAN DIEGO — Sequenom, Inc. (NASDAQ:SQNM) today announced the approval of a protocol by the Institutional Review Board (IRB) at San Diego-based Sharp HealthCare, clearing the way to commence patient enrollment in a screening study to clinically assess the Company’s noninvasive cell free fetal nucleic acid SEQureDx[TM] Technology for the detection of fetal aneuploidy, including Down syndrome, using a laboratory developed test (LDT).

More than 2.7 million pregnancies are evaluated annually in the United States to assess the risk of Down syndrome by various screening methods, which are comprised of surrogate serum markers in combination with ultra-sonographic methods. These risk assessment protocols result in the referral of approximately 5% of normal pregnancies to be screened through invasive procedures, such as amniocentesis, to help rule out the chances of an affected pregnancy for Down syndrome. Sequenom’s SEQureDx Technology, to be evaluated in this screening study, provides a direct genetic assessment of Down syndrome using a noninvasive maternal blood sample collected in the first or second trimester of pregnancy. The expected benefits of this approach are to improve current detection rates, while reducing the number of patient referrals (false positives) to the invasive procedures and fetal losses due to the procedures, which are currently employed in prenatal screening programs throughout the U.S.

"This clinical assessment represents an important milestone in our prenatal genetic testing development program and keeps us on track with our plan to introduce an LDT for Down syndrome in late 2009," said Harry Stylli, Ph.D., Sequenom’s President and Chief Executive Officer. "Our SEQureDx Technology-based noninvasive screening method, if verified, could revolutionize Down syndrome prenatal screening."

"Sequenom’s technology for Down syndrome screening offers great promise for how we manage our obstetric population within the Sharp HealthCare system and the nation. It will greatly improve the quality of prenatal screening and, ultimately, will reduce the need for invasive prenatal diagnosis - a significant source of anxiety for pregnant women," said Allan Bombard, MD, a reproductive geneticist with more than two decades of experience in the field of prenatal diagnosis, who serves as a Medical Director at Sharp and is the principal investigator of the study.

In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that call for risk assessment of all pregnancies for fetal chromosomal abnormalities, including Down syndrome. The ACOG recommendation includes screening before the 20th week of pregnancy using a less invasive screening option that includes ultrasound in conjunction with the measurement of certain blood hormones.

About Fetal Nucleic Acid Technology

Sequenom’s SEQureDx Technology is a novel approach to genetic screening. Unlike current standards of harvesting placental tissue cells as is required for chorionic villus, or entering the uterus to sample the amniotic fluid surrounding the baby as is performed with amniocentesis, SEQureDx Technology extracts Fetal Nucleic Acid material safely and comfortably from a simple blood specimen collected from the mother to determine the genetic status of the fetus. This breakthrough suggests that effective screening may be accomplished in the future without the risks associated with disturbing the amniotic fluid that surrounds the baby in the uterus.

About Sharp HealthCare

A 2007 Malcolm Baldridge National Quality Award Recipient, Sharp HealthCare is San Diego’s most comprehensive health care delivery system. It is recognized for clinical excellence for services in cardiac, cancer, and multiorgan transplantation, as well as orthopedics, rehabilitation, behavioral health, and women’s health. The Sharp system includes four acute-care hospitals, three specialty hospitals, three affiliated medical groups, and a health plan. To learn more about Sharp, visit www.Sharp.com.

About Sequenom

Sequenom is committed to providing the best genomic and genetic analysis products for research and the molecular diagnostic markets. The Company makes available superior solutions for genomic science in biomedical research, livestock and agricultural applications and molecular medicine, as well as for various diagnostic markets, including noninvasive prenatal testing, oncology and infectious diseases. Sequenom’s proprietary MassARRAY([R]) system delivers reliable and specific data from complex biological samples and from genetic target materials available only in trace amounts.

Sequenom([R]), SEQureDx(TM), and MassARRAY([R]) are trademarks of Sequenom, Inc.

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the commencement of and patient enrollment in a screening study to clinically assess the Company’s SEQureDx Technology for the detection of fetal aneuploidy including Down syndrome, the expected benefits of SEQureDx Technology, the Company’s plan to introduce a test for Down syndrome in late 2009, the results, outcome, or future impact of the study on Down syndrome prenatal screening, and the future impact of SEQureDx Technology on healthcare, are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially, including the risks and uncertainties associated with new technology and product research, development and commercialization particularly for new screening and molecular diagnostic technologies such as the Company’s SEQureDx Technology, demand for and market acceptance of the Company’s products, services, and technologies, reliance upon the collaborative efforts of other parties, research and development progress, competition, government regulation, obtaining or maintaining regulatory approvals, and other risks detailed from time to time in the Company’s SEC (U.S. Securities and Exchange Commission) filings, including the Company’s Annual Report on Form 10-K for the year ended December 31, 2006 and other documents subsequently filed with or furnished to the SEC. These forward-looking statements are based on current information that may change and you are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this press release. All forward-looking statements are qualified in their entirety by this cautionary statement, and the Company undertakes no obligation to revise or update any forward-looking statement to reflect events or circumstances after the issuance of this press release.

COPYRIGHT 2008 Business Wire
COPYRIGHT 2008 Gale, Cengage Learning

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to advance understanding of Down syndrome and speed development

of new treatments for the condition, the most frequent genetic

cause of mild to moderate mental retardation and associated medical

problems. To read the full text of this article, click here: http://www.nih.gov/news/health/jan2008/nichd-22.htm

COPYRIGHT 2008 National Institutes of Health
COPYRIGHT 2008 Gale, Cengage Learning

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Police are investigating claims a Christchurch teenager with Down
syndrome was sexually assaulted in a facility providing around-the-
clock care.

The family of the 18-year- old, who is still living at the
Richmond New Zealand home, laid a complaint with police over
allegations he was sexually assaulted by another resident a few
weeks ago.

Richmond and Canterbury’s official watchdog for those with
intellectual disabilities are also investigating.

The alleged incident is not the first time the quality of
Richmond’s supervision has been questioned.

Last September, two male sex offenders were …

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Regina Lutz implored a federal judge not to send her brother, James F. Lynch, to prison because he had a son with Down syndrome who really needed him.

Lutz said Nicky Lynch, 14, was likely to "regress" if the judge sent his father to prison.

She told the judge that Nicky had a special relationship with Lynch that couldn't be replicated by other family members.

Lynch, fighting back tears, interrupted her and shouted, "Stop it! This isn' t right!"

Lynch, 56, a city tax assessor, pleaded guilty last September to conspiracy to commit honest-services fraud in connection with accepting $20,000 in cash from a developer and not disclosing it.

He had faced 18 to 24 months in jail under sentencing guidelines.

But after hearing from Lutz and others, U.S. District Judge James T. Giles concluded that Lynch had "extraordinary family circumstances" …

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People with Down syndrome face a heightened risk of developing leukemia (SN: 12/22/07, p. 402), but some studies hint that people with the condition might be protected against solid-tumor cancers.

A study in mice now shows that the chromosomal abnormality that causes Down syndrome might harbor a genetic aberration that protects against colon cancer.

People with Down syndrome have three copies of chromosome 21 instead of the normal two. One of the genes on chromosome 21 is Ets2. Past research indicated that the protein encoded by Ets2 regulates as many as 200 genes, says study coauthor Roger Reeves, a geneticist at the Johns Hopkins Medical Institutions in Baltimore. He wondered whether Ets2 might exert the reputed anticancer influence.

To test the idea, Reeves and his colleagues crossed mice carrying a mutation known to cause colon cancer with mice that had the third chromosome as well as with others that didn’t. Those with the third chromosome developed roughly half as many tumors as the other mice, the researchers report in the Jan. 3 Nature.

When the researchers sealed back the Ets2 gene to one or two copies instead of three, the mice lost much of their protection against tumors. The findings suggest that the extra proteins encoded by the third Ets2 gene and possibly another nearby gene provide this protective effect, Reeves says.

"We’re now testing this in other kinds of cancers," he says, "and looking for small molecules that elevate Ets2 expression."

COPYRIGHT 2008 Science Service, Inc.
COPYRIGHT 2008 Gale, Cengage Learning

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Young Inventors to Head to New York City for Celebratory Weekend, Followed by Grand Prize Winner Announcement on Bubble Wrap[R] Appreciation Day

ELMWOOD PARK, N.J. — The crowning of America’s next young inventor is drawing nearer, as Sealed Air Corporation (NYSE:SEE), the creator of Bubble Wrap([R]) brand cushioning, today announced the three student finalists in the second annual, nationwide Bubble Wrap([R]) Competition for Young Inventors. The three finalists selected from around the country, and listed in no particular order, are:

* Max Wallack, 11, Natick, MA - "Carpal Cushion" - An eighth-grader at the Advanced Math and Science Academy, Max used Bubble Wrap([R]) brand cushioning to create an adjustable wrist cushion designed to help alleviate and prevent the symptoms of carpal tunnel syndrome experienced by computer users, as well as agricultural and manufacturing workers in foreign and developing nations.

* Hannah Haas, 13, Charlotte, NC - "Sensory Wallpaper" - A home-schooled eighth-grader who used Bubble Wrap[R] brand cushioning to create a wallpaper designed to stimulate and engage children afflicted with autism through the combination of a textured bubble surface containing large and small bubbles, and a calming, blue wallpaper background.

* Nicolette Mann, 13, Christiansburg, VA - "Transformable Bubble Wrap([R] )Kite" - A home-schooled eighth-grader who used Bubble Wrap[R] brand cushioning to create a single kit that enables the easy assembly of multiple flying kites by providing detailed instructions on how to construct different formations, shapes and styles.

"The innovation, ingenuity and spirited design of the student inventions submitted in this year’s Bubble Wrap([R]) Competition for Young Inventors has been nothing short of spectacular, and we’re delighted at how this program continues to motivate young children to tap into their creative and inventive talents," stated William V. Hickey, Sealed Air’s President and Chief Executive Officer. "The wide range of high-caliber entries made the judges’ job of narrowing down the field even more daunting than last year, but these three inventions really stood out for their impressive creativity, usefulness and benefit to society. We congratulate both the students and their mentors, and look forward to celebrating our three finalists in New York City later this month."

As the three finalists, Max, Hannah and Nicolette will be flown along with a family member to New York City, where the Grand Prize Winner and runner-ups will be announced on Bubble Wrap([R]) Appreciation Day (January 28, 2008).

During their visit to New York, the finalists will enjoy an exclusive tour of Sealed Air’s main Bubble Wrap[R] manufacturing plant in Saddle Brook, New Jersey. Later that evening, they will travel into Manhattan to see the award-winning, international smash sensation STOMP, where, as special guests of the producers, they will be treated to a special backstage meeting with the cast members. A unique combination of percussion, movement and visual comedy, STOMP has created its own inimitable, contemporary form of rhythmic expression: both household and industrial objects find new life as musical instruments in the hands of an idiosyncratic band of body percussionists. The finalists’ Big Apple weekend will then culminate with a special dinner awards celebration at New York’s famous Rainbow Room in Rockefeller Center.

The Grand Prize Winner will receive a $10,000 U.S. savings bond, while the second and third place winners will each receive $5,000 and $3,000 U.S. savings bonds, respectively as well as a special gift bag courtesy of OfficeMax[R] Incorporated. The remaining 12 semi-finalists will each receive a $500 U.S. savings bond.

About the Bubble Wrap([R]) Competition for Young Inventors

The Bubble Wrap([R]) Competition for Young Inventors encourages U.S. students in grades 5 through 8 to demonstrate their creativity and ingenuity by designing an invention that incorporates the use of Bubble Wrap([R]) brand cushioning. Students were invited to submit original inventions along with a visual and written description that included the name of the invention, the purpose it serves, how it works and how the idea was formulated.

This year’s competition attracted more than 1400 entries, nearly twice the number submitted last year, with entries ranging from a Bubble Wrap([R]) wheel chair cushion and protective car door cover, to a collapsible plant shelter and shock-absorbing dance floor. Submissions were judged in coordination with the National Museum of Education and ranked based on several criteria including originality, creativity, practicality, benefit to society, marketability and feasibility, as well as overall presentation.

About Bubble Wrap[R] Brand Cushioning

Bubble Wrap([R])cushioning was invented by Sealed Air’s founders in 1960 and was originally intended to be used as a type of textured wallpaper. The inventors quickly realized it was actually a superior cushioning material, and Sealed Air is now a global, Fortune 500 company that offers a wide range of packaging solutions, has operations in 51 countries and has annual sales in excess of $4 billion. Sealed Air is widely recognized for its strong commitment to innovation, and continues to be an industry leader in research and development. For additional information on Bubble Wrap([R]) brand cushioning and the competition, visit www.bubblewrap.com.

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Forget Northern Rock. The Government needs to confront some even stickier - and more old-fashioned - economic problems

I t’s not the economy, stupid. It’s a reputation for competence in running it that matters. So the new year brings good news and bad news for Gordon Brown.

The good news is that Northern Rock is like Sars. Some people may not remember severe acute respiratory syndrome, a curiously named disease that killed nearly 300 people in Hong Kong in 2003. Four years from now, many people may not remember Northern Rock - after all, the total death toll from its collapse, even if things go very badly this year, is most likely to be zero.

But in the few months that Sars was knocking down little old ladies with a mortality rate of one in every six that caught it, people all round the world were worried. Although it never arrived here, British newspapers were alarmed, in the way that only British newspapers can be, at the prospect of the bug being carried across continents by plane.

In the middle of the panic, I recorded the phlegmatic judgement of one of my colleagues, intending to quote it back at him later. “It’s completely trivial,” he said. Well, that was a little callous set against the grief of the families of those who died in Hong Kong, China, Taiwan, Singapore and Canada - you see, it did spread to the West; 38 people died in and around Toronto. But his verdict proved accurate. Sars was declared contained by the World Health Organisation in July 2003, and we all went back to worrying about bird flu - a theoretical rather than actual threat.

It may seem reckless, therefore, to dismiss the implosion of Northern Rock as “completely trivial”. It was certainly unwise of Gordon Brown to say, as he did in an interview last month: “Whatever else, nobody has lost their money.” He meant the depositors, whose savings accounts have been guaranteed by the Government. But the shareholders in Northern Rock have lost most of their money, and have no prospect of getting it back. That is, in fact, how it should be. They have to pay the price for the mismanagement of the company. But it was a little heartless of the Prime Minister to forget them altogether.

The impact of the failure of Northern Rock in the long term, however, is likely to be trivial, when measured against the British economy as a whole. That is good news for Brown, considering the Sars-like panic that briefly infected British newspapers last year, but which is already receding. Vince Cable, when he was acting leader of the Liberal Democrats, tried to frighten the middle classes by asking awkward questions about how many billions the taxpayer had lent to Northern Rock.

Cable took me to task, justifiably, when I said that his questions implied that the Government was wrong to bail out the depositors. And he may be proved right that temporary nationalisation is the answer. But he was wrong to imply - which I think he did - that billions of public money are at risk, because, as my esteemed colleague Hamish McRae has pointed out, Northern Rock’s mortgages are secured against British houses.

The company’s name is obviously worthless, its branch network is not worth much, and it may take two or three years to re-engineer the business, but, as the Prime Minister meant to say, neither the depositors nor taxpayers are likely to lose significant amounts of money. The whole business will be largely forgotten by the time of the next election.

So to the bad news. It is a while since British political commentators have had to pay much attention to economics. It is a long time since I have cited someone such as McRae as an authority rather than, say, Alan Watkins. There was a time, running roughly from the Dissolution of the Monasteries to 1997, when the phrase “political economy” meant something and was the core business of columnists. James Callaghan, Margaret Thatcher, Nigel Lawson and John Major were all made and broken on the machinery of public- sector borrowing, inflation, exchange rates and interest rates. When Tony Blair and Brown came to power, a whole language and way of thinking about politics fell into disuse.

The public finances were sound. So sound that the Government raised 22.5bn from the sale of 3G mobile phone licences in 2000 and used it to reduce the national debt. Inflation has not been an issue since the end of Lawson’s long “blip” in 1991. The exchange rate ceased to matter after the pound left the Exchange Rate Mechanism the following year. And decisions over interest rates have been contracted out to the Bank of England.

This year, they are likely to be back. Not in a big, ERM- disaster way. But in a way that could further erode Brown and Alistair Darling’s reputation for competence. That reputation has suffered in recent months, partly because of the unwarranted panic over Northern Rock and the problem of HMRC’s data security (which should not affect anyone’s view of Brown and Darling’s ability to manage the economy).

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