Genetic disorder discovered

image courtesy Sheila Kambin

image courtesy Sheila Kambin

From the first time Dr. Sheila Kambin laid eyes on her newborn son Aidan, she knew something wasnt right.

Aidan had a sacral pita dimple on his lower backand low set ears. He was full term but weighed just 5 pounds and was sent to a neonatal intensive-care unit (NICU) where he was evaluated for low platelet count, low blood sugar, problems with temperature regulation and feeding.

He was never able to latch, but I never knew why, she said.

At just 4 months old, Aidan had surgery to repair an inguinal hernia, a bulge in the abdominal muscles. He also had ligament laxity (loose ligaments), hammer toes, distinct facial features, long tapered fingers, and the uvula in the back of his throat was split into two. Kambin later learned Aidan had a submucous cleft palate, or a cleft palate covered by a membrane, the reason for his feeding troubles.

Perhaps one of the most concerning symptoms to Kambin was that Aidan wasnt reaching his developmental milestones.

We started to notice he was delayed by about 6 months on every single one of them, she said.

His preschool teacher was also concerned.

His teacher said, Ive been teaching preschool for 30 years and Im not sure what exactly is wrong with Aiden but something is wrong with him.

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Genetic disorder discovered

Genetic Study Suggests Possible Causal Role for Cholesterol In Heart Valve Disease

Although LDL is an important risk factor for aortic valve disease, the precise role it plays has been uncertain. Lipid-lowering therapy in people with established aortic valve disease has not been shown to be beneficial. Now, however,a new genetic study published inJAMAsuggests that LDL cholesterol may in fact cause an increase in aortic valve calcium and aortic valve stenosis. This may mean that LDL-lowering therapy could prove beneficial when given earlier in the disease process.

Researchers in theCohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium used Mendelian randomization to assess in nearly 7,000 people the association of a genetic risk score with the presence of aortic valve calcium. They founda strong association between the genetic risk score for LDL and the presence of aortic valve calcium.

The researchers also analyzed data from more than 28,000 participants in thethe Malm Diet and Cancer Study (MDCS). The genetic risk score for LDL was significantly associated with the incidence of aortic stenosis as ascertained from national registries.

Our findings link a genetically mediated increase in plasma LDL-C with early subclinical valve disease, as measured by aortic valve calcium, and incident clinical aortic stenosis, providing supportive evidence for a causal role of LDL-C in the development of aortic stenosis, write the authors. The authors speculate that LDL lowering may not be effective in established valve disease once valve calcification and remodeling are well established But, they write, our results suggest that early lipid lowering, prior to the development of even mild forms of aortic stenosis, may be required to prevent aortic valve disease.

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Genetic Study Suggests Possible Causal Role for Cholesterol In Heart Valve Disease

What the 1970s Can Teach Us about Inventing a New Economy (in News)

A Hawaiian futurist recalls the two years he spent trying to end consumerism in Canada.

Jim Dator in Hawaii: You won't like the future if 'you think continued innovation, a new iPhone every three months is a really great world to live in.'

What does the future hold? Jim Dator has spent his life exploring the question and how posing it can improve the society we presently inhabit. He helped set up North America's first-ever academic program for futures studies in 1972 at the University of Hawaii in Honolulu. And four decades later, he's regarded as an elder statesman of the discipline -- a futurist's futurist, if you will -- lauded by colleagues and students for the "scope, intensity, magnitude, creativity, and importance of [his] work."

Dator is now in his early 80s and in the twilight of a long and globally influential career. But he still has clear memories of the two years he spent in Canada when his career was just getting started. From 1974 to 1976, he travelled all across the country, meeting with school boards, scientists, Royal Commissions, TV producers, policymakers and even the Privy Council of Prime Minister Pierre Trudeau, to transform Canada from a society of consumers into a society of "conservers."

This was an era not so unlike the one now we live in. It was a time of global oil shocks. Across the world there was dawning awareness of the ecological limits to growth, and widespread fears that they would be exceeded. Dator's job was to make Canadians aware of those limits, while building an alternative to the prevailing mass consumer lifestyle capable of respecting them. "There was a vast amount of research and public meetings held all over the country," Dator said. "I got to know Canada very well." But the shift away from consumerism he tried to achieve never took off.

Dator's since spent his career exploring four scenarios of what tomorrow's society could be like -- collapse, discipline, singularity or business-as-usual -- to widen our options for fixing today's. Yet when I visited him this July at his office in Honolulu, he lamented that our society has yet to heed the warnings he first began imparting 40 years ago. "If you think continued innovation, a new iPhone every three months is a really great world to live in," he said, "then you're not going to like [the future]."

The Conserver Society

Like today, the 1970s were a time of great uncertainty about the future. OPEC embargos exposed our precarious addiction to oil. The Club of Rome warned of societal collapse unless we could implement "limits to growth." And the first Earth Day created a global environmental movement. In response to these pressures, the now-defunct Science Council of Canada in 1973 called for a "transition from a consumer society preoccupied with resource exploitation to a conserver society."

The Council was of the opinion that our growth-obsessed culture was about to slam into an ecological wall. "Most Canadians have lived through a period when materials seemed plentiful, energy cheap, and growth in size and quantity, whether of cities, automobiles, monuments or lawnmowers, was the natural order of things," the Council argued. Some members urged Canada to embark on a national program of "joyous austerity" that would "question our implicit assumption that 'bigger is better.'"

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What the 1970s Can Teach Us about Inventing a New Economy (in News)

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GameByteTV Shoutout Thursday #39;s !! Shouts Every Fridays at 9pm Eastern ! If you #39;d like to get Featured ! Just subscribe and leave a comment Today #39;s Shoutouts are !! MagophieGamer https://www.yo.

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Shoutouts Fridays ~ With Tips And Feedbacks ~ Freedom Partners – Video


Shoutouts Fridays ~ With Tips And Feedbacks ~ Freedom Partners
GameByteTV Shoutout Thursday #39;s !! Shouts Every Fridays at 9pm Eastern ! If you #39;d like to get Featured ! Just subscribe and leave a comment Today #39;s Shoutouts are !! MagophieGamer https://www.yo.

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