Wednesday, January 23, 2013

Pennridge powerlifting team muscles its way into the record books

Pennridge powerlifting team muscles its way into the record books

Sunday, January 06, 2013

Coach Steve Pattison, or “CP” for short, recruits Pennridge students for his powerlifting team by walking up to them in the school hallway and asking, “Hi, how are you? How much do you weigh?”

Unmoved by the brazen question, about 35 students and parents have joined CP in his gym in Perkasie for intense one- to two-hour lifting sessions four times a week. And whatever he’s doing, it’s working because the Pennridge powerlifting team has beaten not just school, state and regional records, but 26 world records. Going up against about 40 other countries, the team beat others and its own past world records in bench, squat, dead-lift and total — the best of all three — at the world championships in Las Vegas in 2012.

“Coming from a town like Perkasie, what these guys have accomplished really is unheard of,” CP said. “It’s just not done.”

The team is on its own for finances, which can add up to large amounts quickly. This year the team had to pay its way to Las Vegas, and two years ago team members paid their way to the Czech Republic.

Though the team does have some tall, brawny characters, the majority of them look like normal Pennridge students until they flex.

“It’s not necessarily a body builder strength,” CP said. “Your body does get bigger, harder, firmer but it’s more power. That’s what it’s all about.”

Danielle Tasher, a Pennridge student who weighs 97 pounds, can dead-lift 230 pounds, but no one would guess it with her petite frame.

Johnny Hess, a 92-pound member of the team with bright blue eyes, broad shoulders and a constant smile, can bench 135 pounds. What makes Hess even more impressive is that the 16-year-old sophomore can bench that much while paralyzed from the waist down, a result of spina bifida, a birth defect.

CP said usually your legs are your base of everything, your drive for power.

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Lack of Key Enzyme in the Metabolism of Folic Acid Leads to Birth Defects

Lack of Key Enzyme in the Metabolism of Folic Acid Leads to Birth Defects

Jan. 17, 2013 — Researchers at The University of Texas at Austin have discovered that the lack of a critical enzyme in the folic acid metabolic pathway leads to neural tube birth defects in developing embryos.

It has been known for several decades that folic acid supplementation dramatically reduces the incidence of neural tube defects, such as spina bifida and anencephaly, which are among the most common birth defects. In some populations, folic acid supplementation has decreased neural tube defects by as much as 70 percent.
However, scientists still do not fully understand how folic acid decreases neural tube defects, or why folic acid supplementation does not eliminate birth defects in all pregnancies.

"Now, we've found that mutation of a key folic acid enzyme causes neural tube defects in mice," said Dean Appling, professor of biochemistry in the College of Natural Sciences. "This is the clearest mechanistic link yet between folic acid and birth defects."

Appling and his colleagues published their research in the Jan. 8 issue of Proceedings of the National Academy of Sciences (PNAS).

The scientists made the discovery using mice that lack a gene for a folic acid enzyme called Mthfd1l, which is required for cells to produce a metabolite called formate. Embryos need formate to develop normally.
"This work reveals that one of the ways that folic acid prevents birth defects is by ensuring the production of formate in the developing embryo," said Appling, "and it may explain those 30 percent of neural tube defects that cannot be prevented by folic acid supplementation."

Appling said that the mice provide researchers with a strong model system that they can use to further understand folic acid and its role in birth defects in humans. In fact, humans share the same gene for the folic acid enzyme with the mouse and all other mammals. Indeed, it has recently been discovered that point mutations in that human gene increase the risk of birth defects.

Appling said that he and his colleagues would like to use the mouse system to begin looking for nutrients that could be delivered to pregnant mothers to prevent those neural tube defects that cannot be prevented by folic acid.

Ultimately, women could someday be screened for the gene that produces the enzyme. If they are deficient, steps could be taken to improve their chances for developing embryos free of neural tube defects through further nutrient supplementation.

Folic acid was discovered at The University of Texas at Austin in the 1940s by biochemists Esmond Snell and Herschel Mitchell. The U.S. has fortified all enriched cereal grain products with folic acid since 1996 to ensure that women of childbearing age receive adequate quantities of the vitamin.

Postdoctoral researcher Jessica Momb and graduate student Jordan Lewandowski were largely responsible for this research. Co-authors include graduate student Joshua Bryant, researcher Rebecca Fitch, researcher Deborah Surman, and Steven Vokes, assistant professor of biology.

Going for gold is Rachel's Rio dream for 2016

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Rachel Coady was courtside to watch Australia collect silver at last year's Paralympic Games, but when the Gliders go for gold in Rio in 2016 she wants to be in the game.

By then Coady hopes Canberra has a national league wheelchair basketball team to call its own.
The Australian women's wheelchair basketball team has been on the podium at the past four Paralympics, and has been in camp in Canberra this week to begin a four-year campaign towards Rio.

The Gliders have finished with three silver and one bronze from the past four Paralympics, but coach David Gould said he was determined to stack Australia's depth for a shot at gold in 2016.
The Gliders lost the Paralympic final to Germany in London and have already started plotting redemption in Rio.

''The idea of this camp is to start off our four-year journey to Rio, with that in mind we decided to bring in a lot of developing players,'' Gould said.

''We want to make our squad a lot deeper so as it comes up to the world championships and Rio Paralympics we've got some really tough decisions to make for the team.

''A few of the younger girls probably didn't handle the pressure in London because it was their first Paralympic final, but that's the idea behind trying to develop our squad even further now, to give as many of these girls as much international competition as possible.''

Coady, a silver medallist with Australia's Under 25 world championships team in 2011, was one of the development players invited to this week's camp in Canberra.

It was a rare privilege for the 24-year-old to train at home. There is no Canberra team in the Women's National Wheelchair Basketball League, comprising five teams across Sydney, Melbourne, Brisbane and Perth.

Teams are made up of athletes with varying disabilities, players given a classification from 1 to 4.5, points decreasing as the severity of the disability increases.

Coady, born with spina bifida, is classified as a 1 and commutes to Sydney to train and play with the Sydney University Flames.

''I go to Sydney twice a month for training, then come back here and try to do my best,'' she said. ''It'd be great to get a Canberra team, we're trying to find more players. But it could take a couple of years.''

Coady travelled much further to watch the Gliders at the Paralympics. ''I went to London with my mum to watch all the girls' games … it's great to go and support.''

Surgery establishes penile sensation in men with spina bifida

Surgery establishes penile sensation in men with spina bifida

December 28, 2012
By Chris Mc Cann, UW Health Sciences/uw Medicine
A procedure to establish feeling in the penis for men with spina bifida was performed for the first time in the United States in Seattle.

Tony Avellino, UW professor of neurological surgery, and Thomas Lendvay, a UW associate professor of pediatric urology who practices at Seattle Children’s Hospital, led the surgical team.

“This is truly an innovative procedure for either spina bifida patients or patients with lower-level spinal-cord injury who have sensation in the groin but not the penis,” said Avellino.

Lendvay noted that, “Based on the positive results of the first two patients, this new procedure has the potential to greatly improve the quality of life in our spina bifida adult and adolescent patients.”
People with spinal bifida were born with an incomplete closure of their backbone, often because the neural tube didn’t form correctly during early embryonic development. Even when the spine is surgically closed after birth, the spinal cord in the affected section may not work properly in conducting nerve impulses. The patient may have a combination of nerve function and loss. They may have paralysis or numbness in only some parts of their body, for example.

The new operation is known as “Tomax” (for TO MAX-imize sensation, sexuality and quality of life). The procedure entails transferring a branch of the nerve supplying sensation from the thigh skin to the main skin sensation nerve to the penis. The successful completion of the procedure allows men with spinal cord impairment to feel sensation in a previously insensitive penis and improve sexual health.

Max Overgoor from the University of Utrecht in The Netherlands had performed 18 successful operations when David Shurtleff, UW professor of pediatrics, invited him to Seattle to observe the first U.S. operation of this nature.
Lendvay and Avellino performed the procedure at Seattle Children’s Hospital in March 2009. Their first U.S. patient was a 19-year-old college student. At a recent follow-up appointment, the young man reported having erogenous penile skin sensation and enhanced sexuality over the course of  the past 18 months.
He said: “Before the surgery, I had no sensation at all. I found that sex was very frustrating and unsatisfying. Today, I have very good sensation. … I feel like a gained a body part that I was previously missing.”
Avellino and Lendvay performed two procedures (at Harborview Medical Center and UW Medical Center) on another patient who also experienced erogenous sensation where he had never before felt anything. This man reported, “It continues to improve my quality of life and makes me feel like I have a much more normal and complete body.”

Avellino said the success of this pioneering procedure is due to a truly multidisciplinary effort. “We can do innovative things here because we have experts from different specialties collaborating as a team. Pediatricians, spina bifida specialists, urologists and neurosurgeons — all working together.”
Lendvay added, “We are planning to collaborate with our Rehabilitation Medicine colleagues to expand this surgical opportunity to patients with traumatic spinal cord injury.  We also hope to explore the role such surgery may have in female patients with spinal cord lesions.”

In October, Lendvay presented one of the surgical videos at the American Academy of Pediatrics meeting in New Orleans during the “Innovative Procedures in Pediatric Urology” panel. Avellino and Lendvay have submitted a video of the most recent procedure to the American Urological Association annual meeting, which will be held May 4–8, 2013, in San Diego, Calif.

For more information about the procedure, read Overgoor’s article in the Journal of Urology, “Increased Sexual Health After Restored Genital Sensation in Male Patients with Spina Bifida or a Spinal Cord Injury: the TOMAX Procedure.”


American College of Obstetricians and Gynecologists recommends counseling for prenatal spina bifida surgery

American College of Obstetricians and Gynecologists recommends counseling for prenatal spina bifida surgery

Published On: 1/21/2013 2:48:37 PM

IMNG Medical News

Breaking News

Certain pregnant women who are carrying a fetus with severe spina bifida should be counseled about the potential benefits and risks of maternal-fetal surgery, according to the American College of Obstetricians and Gynecologists.

The ACOG Committee on Obstetric Practice recently recommended counseling about maternal-fetal surgery for myelomeningocele, the most severe form of spina bifida, following promising results from the procedure in an 8-year randomized controlled trial (Obstet. Gynecol. 2013;121:218-9).

In the Management of Myelomeningocele Study (MOMS), prenatal repair before 26 weeks of gestation reduced the need for a shunt at 12 months and also decreased the rate of hindbrain herniation by one-third at 12 months of age. The procedure also doubled the rate of independent walking and produced higher levels of functioning than were expected based on anatomic levels (N. Engl. J. Med. 2011;364:993-1004).

But the study, which was sponsored by the National Institutes of Health, also found significant maternal and fetal risks. For example, the surgery was associated with high rates of preterm birth, fetal bradycardia, oligohydramnios, placental abruption, pulmonary edema, maternal transfusion at delivery, and an increased incidence of uterine thinning.

ACOG cautions that the MOMS trial used stringent inclusion criteria and rigorous requirements for the experience of the surgeons involved. As a result, outcomes from the trial should be considered a "best-case scenario," the committee members wrote. They urged physicians to use the same inclusion criteria as the researchers when considering which women to counsel about the maternal-fetal surgery. The criteria were a singleton pregnancy, myelomeningocele with the upper boundary between T-1 and S-1, evidence of hindbrain herniation, gestational age between 19.0 and 25.9 weeks, and a normal karyotype. The major exclusion criteria included a fetal anomaly unrelated to the myelomeningocele; severe kyphosis; risk of preterm birth; a maternal body mass index of 35 kg/m2 or more; and contraindications to surgery, including previous hysterotomy in the active uterine segment.

Women should also be counseled about the implications of the surgery for future pregnancies, the ACOG committee recommended.

"It is a highly technical procedure with potential for significant morbidity and possibly mortality, even in the best and most experienced hands," they wrote. "Maternal-fetal surgery for myelomeningocele should only be offered at facilities with the expertise, multidisciplinary teams, services, and facilities to provide the intensive care required for these patients."

The study authors declared that they received funding from the National Institutes of Health. One of the authors reported receiving funding from Vanderbilt University in Nashville, Tenn.