Beckwith Wiedemann
Beckwith-Wiedemann
Beckwith-Wiedemann syndrome (BWS) is a rare genetic or epigenetic overgrowth syndrome (prevalence of about 1 in 15,000) associated with an elevated risk of embryonic tumor formation. There is a 20% mortality rate for newborns with BWS. BWS is caused by mutations in growth regulating genes on chromosome 11— caused by an inversion specifically on 11p15—or by errors in genomic imprinting.
Clinically, patients typically present with omphalocele, macroglossia (large tongue), and macrosomia (large birth weight). Organomegaly, adrenocortical cytomegaly, hemihypertrophy, and neonatal hypoglycemia may also been seen. Not all of these features appear in every individual with BWS. Macroglossia occurs in approximately 80% of cases and often results in ‘floppy’ airways which may require treatment with a tracheotomy.
Beckwith-Wiedemann Children’s Foundation
The Beckwith-Wiedemann Children’s Foundation is a non-profit, all volunteer foundation. All donations go towards assisting children and their families with Beckwith-Wiedemann Syndrome.
Miraculous neoplasm surgery - six organs taken away
MIAMI — Lodged behind several organs and attached to arteries, the lemon-sized tumor in Brooke Zepp’s abdomen appeared to be inoperable. It was malignant and out of reach.
But on Monday, Ms. Zepp watched in awe as doctors at the University of Miami/Jackson Memorial Medical Center explained how they detached and removed six of her organs, cut out the cancerous tumor, then reassembled her insides. With a video of the March 4 operation on display at a news conference here, she wiped away tears and said: “I feel like I’m coming through the tunnel and I have a whole life.”
Her doctors smiled with pride. The surgery lasted 15 hours and was one of the first to involve taking so many organs out of the body: the stomach, liver, pancreas, spleen, small intestine and two-thirds of the large intestine.
Dr. Tomoaki Kato, a transplant specialist who led the team of at least nine doctors, said he hoped the procedure would be duplicated for other cancer patients and those with aneurysms or other problems associated with the abdominal aorta.
It remains unclear how often it would be needed; tumors like Ms. Zepp’s are rare, and in most abdominal surgeries, organs can be lifted or held aside.
But in the case of Ms. Zepp, 63, there was no other way to reach the tumor. After she received a diagnosis in May, doctors discovered that the cancerous tissue was entwined with several blood vessels and buried deep within.
“It wasn’t so big, but it was in a very strategic location,” said Dr. Andreas Tzakis, director of the hospital’s Transplant Institute and a member of the operation team.
Dr. Tzakis said doctors essentially had to empty Ms. Zepp’s abdomen. Then they cut out the tumor and its attached blood vessels in a matter of minutes.
Next, the team sewed in white Gore-Tex tubes to replace involved sections of the arteries, and went to work putting Ms. Zepp back together. The removed organs sat in a large, square metal tin — roughly the size of a turkey pan — for about 90 minutes before the surgeons began to reinsert and reattach them. In the video, they could be seen sloshing in cool water, like leftover soup.
Ms. Zepp, a real estate agent from Pompano Beach, shook her head when she saw her organs.
“I’m glad I had a good anesthesiologist,” she said. (Actually, according to her doctors , there were two.)
Dr. Kato said the surgery was possible only because of the hospital’s experience with transplants. For more than a decade, he said, doctors have been expanding their knowledge of how long people can live without certain organs, and how to work on them outside the body.
In 2000, Dr. Michael J. Reardon, a surgeon in Houston, removed a patient’s heart, cut out four tumors, then sewed it back in. The patient died nine months later after the cancer recurred — a risk also faced by Ms. Zepp.
For now, she said she considered herself ready to live until age 100.
Dr. Reardon, an expert in cancer surgery, said the procedure was astounding.
“It’s a heck of a big operation,” Dr. Reardon said. “Putting that much back in would be a real surgical tour de force.”
VIA - NY Times
Could power of literacy affect your health?
Want your children to grow up to be healthy, wealthy and wise?
Then read them a book.
Read them a book every night before bed. Read along as they discover the wonders of the alphabet and their first words. Steer them toward computer games that require some literacy, not just thumb dexterity.
As they grow up, help them discover books that engross them, such as the Screech Owls series, or the Amos Daragon collection. Have newspapers and magazines around the house. Lead by example, turn off the television and read a book yourself.
Do everything in your power to help them stay in school and go on to college or university.
While we obsess about our weight, blood pressure and cholesterol levels, the single best predictor of good health and longevity is probably literacy.
Literacy is the foundation of a good education and educational achievement is a good predictor of income. That trio - literacy, education, income (not to mention housing and a good physical environment, which flow from income) are powerful determinants of health.
And we were reminded this week, in a series of studies, just how powerful those factors can be for our individual and collective health.
While life expectancy has been rising steadily for decades, new research published this week in the journal Health Affairs shows those gains have occurred exclusively in people who have a post-secondary education.
Once you study in college or university, your life expectancy soars by about seven years, the study showed. Conversely, having only a high-school education puts you on the fast track for an early death.
Canada’s census also provides some intriguing data on the topic. British Columbia, by most measures, has the healthiest population in the country. This is usually attributed to the mild West Coast weather and the preponderance of granola types.
But the census tells the real story: British Columbia has the most educated population. Only 12 per cent of adults in the province have not completed high school. By comparison, the rate is 15 per cent in Alberta, 17 per cent in Quebec, 26 per cent in Newfoundland and Labrador, and 46 per cent in Nunavut, which, not surprisingly, has the lowest life expectancy in the country.
While we are increasingly dependent on technology, the ability to read, count and comprehend the written word remains fundamental. Being illiterate, innumerate or uneducated virtually condemns one to poverty and poor health.
Literacy is not only a key factor in obtaining a good job (and the health advantage that comes with income) but, increasingly, being literate is essential to managing one’s health, even for those with an education.
In an era where much “care” is delivered in seven-minute visits to the family doctor or, worse yet, by anonymous doctors in high-churn walk-in clinics, and where ever-increasing numbers of people are living with dizzying combinations of chronic illnesses, patients need a broad set of skills to keep pace.
They need to be able to understand drug dosing and schedules, monitor everything from blood sugar to blood gases. They need to decipher the gobbledygook that doctors too often spew out, and to suss out information on reliable websites such as the Canadian Health Network (canadian-health-network.ca).
In other words, modern health consumers need health literacy - the ability to find, understand and use health information.
Yet, according to a new report, we are a nation of health illiterates: Fewer than half of Canadians (45 per cent) have the skills to deal with basic and routine health information demands.
More troubling still, only about 12 per cent of seniors - those most likely to use health-care services regularly - can cope with the health information demands placed on them.
“There are higher information demands being put on Canadians by an increasingly complex health system,” said Irving Rootman, a professor in the department of human and social development at the University of Victoria and co-author of the new report, titled A Vision for a Health Literate Canada. (The co-author is Deborah Gordon-El-Bihbety, the president and CEO of Research Canada.)
They make a compelling case for making health literacy a priority, particularly among those who are already disadvantaged - the elderly, the poor, immigrants, aboriginals.
The report notes that those with the lowest health literacy skills are about 2.5 times more likely to be in poor health than those with the highest literacy levels, and that those who are ill-equipped to deal with the demands of their care actually cost significantly more to care for.
But the bottom line is that health literacy is an issue of social justice and that a medicare system worthy of its name needs to promote literacy, because it is a virtual prerequisite to good health.
Source - [Globeandmail.com]