Genetic Defects Linked With Rare Bearded Lady

New research provides exciting genetic insight into a rare syndrome that first appeared in the medical literature in the mid 1800s with the case of Julia Pastrana, the world's most notorious bearded lady. The study, published by Cell Press in the May 21st issue of the American Journal of Human Genetics, reveals intriguing molecular clues about the pathogenesis of this mysterious condition that has captured the attention of the public since the Middle Ages.



Congenital generalized hypertrichosis (CGH) represents a group of conditions characterized by excessive hair growth over the entire body, well beyond the average limits for a particular age, sex or race. Congenital generalized hypertrichosis terminalis (CGHT) with gingival hypertrophy is a distinct subgroup of CGH that is associated with universal overgrowth of darkly pigmented hairs, enlarged gums and a distortion of facial features, the phenotype famously exhibited by Julia Pastrana.



"Although it has long been believed that most people with CGH have some kind of genetic defect, the specific genetic mutations that underlie CGHT, with or without gingival hyperplasia, had not been discovered until now," explains senior study author Dr. Xue Zhang from the Chinese Academy of Medical Sciences and Peking Union Medical College in Beijing. The condition has been very difficult to study because it is so rare.



Dr. Zhang and colleagues performed a sophisticated, high resolution genetic analysis of several members of three Chinese families with CGHT and an individual with a sporadic case of CGHT with gingival hyperplasia. The researchers mapped the genetic locus for this syndrome and discovered that genetic defects on chromosome 17q24.2-q24.3 were responsible for CGHT with or without gingival hyperplasia.



The three families exhibited different DNA deletions whereas the sporadic case was associated with a DNA duplication within the identified chromosome region. These different copy number mutations affected 4 to 8 genes. "Our work clearly establishes CGHT as a genomic disorder. However, further studies are needed to elucidate the exact molecular mechanisms by which copy number mutations on 17q24.2-q24.3 lead to the defining characteristics of this rare disorder," concludes Dr. Zhang.



Source:
Cathleen Genova


Cell Press

New York Times Examines Abortion-Rights Opponents' Focus On Pregnant Women

The U.S. Supreme Court's recognition last month of an argument advanced by some abortion-rights opponents that the "interests of the pregnant woman and the fetus are ... the same" has "galvanized" antiabortion groups and has "se[t] the stage for an intensifying battle over new abortion restrictions in the states," the New York Times reports.

According to the Times, the "political struggle" over abortion often has been framed as a "starkly binary choice" between the "interest of the woman," advocated by abortion-rights supporters, versus the "interest of the fetus," advocated by abortion-rights opponents. However, some groups -- such as the Justice Foundation, National Right to Life Committee and Feminists for Life -- in the last decade have been building an argument that abortion is not in the "best interest" of the woman and that women are often "misled or ill-informed" about the risks related to the procedure.

According to the Times, many abortion-rights supporters and opponents viewed part of Supreme Court Justice Anthony Kennedy's majority opinion in a ruling that upheld a federal law (S 3) banning so-called "partial-birth" abortion as an "invitation from a newly conservative court to pass tough new counseling and informed consent laws intended for women seeking abortions."

Abortion-rights supporters say that the focus on women by abortion-rights opponents "is motivated by ideology, not women's health," the Times reports. "Informed consent is really a misleading way to characterize it," Roger Evans, senior director of public policy litigation and law for Planned Parenthood Federation of America, said, adding, "To me, what we'll see is an increasing attempt to push a state's ideology into a doctor-patient relationship to force doctors to communicate more and more of the state's viewpoint."

Wanda Franz, president of NRLC, said, "We think of ourselves as very pro-woman," adding, "We believe that when you help the woman, you help the baby" (Toner, New York Times, 5/22).

"Reprinted with permission from kaisernetwork. You can view the entire Kaiser Daily Health Policy Report, search the archives, or sign up for email delivery at kaisernetwork/dailyreports/healthpolicy. The Kaiser Daily Health Policy Report is published for kaisernetwork, a free service of The Henry J. Kaiser Family Foundation . © 2005 Advisory Board Company and Kaiser Family Foundation. All rights reserved.

Pelvic Floor An Overlooked, Important Aspect Of Women's Health

Performing pelvic floor exercises are a crucial, yet often overlooked, aspect of women's health, said an expert today at the American College of Sports Medicine's Health & Fitness Summit & Exposition.


Sheila Dugan, M.D., FACSM, says keeping the pelvic floor - the sling of muscles connecting the pubic and tail bones - healthy is key for everything from supporting organs surrounding the pelvis to maintaining normal sexual function. The pelvic floor also supports the actions of the spine and legs, helping everything to work in a coordinated manner and allowing people to walk, jump and run.


"The pelvic floor is equally important during childbirth as it is in training for a marathon," Dugan said. "That's why women need to be cognizant about keeping these muscles healthy."


An unhealthy pelvic floor can be either "hypotonic" (low muscle tone) or "hypertonic." Women with hypotonic pelvic floors often experience incontinence, while hypertonics can experience pain and incontinence.


Dugan provided exercises for women in either category to keep their pelvic floor in shape.


- Practice deep breathing, with the feeling of letting the pelvic floor muscles "drop away" from the body. Spend at least five minutes breathing this way during the day, especially when feeling stressed or tense.


- Lay on your back with the bottoms of your feet together and your knees dropped to the side. This will help relax the groin and pelvic floor muscles together, as they often work in conjunction. Lay this way for at least five minutes and if the stretch feels too intense, you can place a small pillow under each knee.


- Lay on your back and attempt to smoothly draw your lower belly muscles in, as though you were wearing a girdle or corset, for a count of five, then slowly release. Repeat 10 times several times per day as time permits.


- Lay on your back and lift the pelvic muscles in and up for a count of five, then slowly lower for a count of five. Repeat several times per day as time permits. This lifting and squeezing action is similar to the action taken when stopping urine mid-stream. However, Dugan does not recommend this technique while urinating.


Women who have recently given birth will especially gain benefits from these exercises, Dugan says.


"During childbirth, the pelvic floor muscles stretch from teacup-sized to the size of an infant's head. This stretching and tearing requires healing and regain of function."


The American College of Sports Medicine is the largest sports medicine and exercise science organization in the world. More than 35,000 international, national, and regional members and certified professionals are dedicated to advancing and integrating scientific research to provide educational and practical applications of exercise science and sports medicine.

Source
American College of Sports Medicine

Female Obesity Affects College Attendance

Obese girls are half as likely to attend college as non-obese girls, according to a new study from The University of Texas at Austin.



The study also shows obese girls are even less likely to enter college if they attend a high school where obesity is relatively uncommon. The findings appear in the July issue of the journal Sociology of Education.



The study tracked nearly 11,000 American adolescents, using data from the National Longitudinal Study of Adolescent Health.



"Obesity has been identified as a serious public health issue, but these results indicate the harmful effects extend far beyond physical health," said Robert Crosnoe, author of the study and a sociologist at the university.



Crosnoe suggests a number of mental health and behavioral issues seem to play a significant role in keeping obese girls from enrolling in college. The study found obese girls were more likely to consider committing suicide, use alcohol and marijuana and have negative self-images.



The disconnect between obesity and college enrollment was more pronounced among non-whites and among girls whose parents did not graduate from college. Obese boys did not differ from their non-obese peers in college enrollment.



"That girls are far more vulnerable to the non-health risks of obesity reinforces the notion that body image is more important to girls' self-concept and that social norms have greater effects on the education of girls than boys," Crosnoe noted.






Source: Robert Crosnoe


University of Texas at Austin

Interstitial Cystitis Treatment?

This letter was sent to blog offering, perhaps, a treatment idea for Interstitial Cystitis


To Whom It May Concern:


 
This letter is concerning women's health.  The disease is Interstitial Cystitis (I.C.) of the bladder. The bladder is inflamed and pain worsens when urine fills it.  Women are disproportionately afflicted with I.C.  Conventional therapy is palliative treatment for an unknown etiology without a cure.  My wife was diagnosed with I.C. 


 
Her doctor bravely allowed me to offer a therapy that promotes the production of mucin, a protective glycoprotein that is also secreted onto the bladder membrane.  Most over the counter products for menstrual discomfort can inhibit mucin production - to be avoided!  The trade name drug Cytotec, prostaglandin agonist for gastric ulcer, was chosen because it can increase mucin production.  I designed the drug protocol for my wife. After nine months of treatment, she has remained asymptomatic for five years.


 
I believe that Cytotec needs formal clinical investigation to assess a potential off-label treatment.  Your influence can facilitate an audience with doctors to study this drug.  Bringing attention to I.C. may encourage investigators to identify causative agent(s) and gain a better understanding as to how the bladder membrane becomes inflamed.  


 
Sincerely,
 
 
 
Norman A. Smith

normanasmithcox

China Daily Examines Campaign Against Cross-Generational Sex In Uganda To Fight Spread Of HIV Among Girls, Women

China Daily on Wednesday examined a campaign against cross-generational sex in Uganda that aims to fight the spread of HIV among girls and women. The campaign, called "Go-Getters," was launched in 2003 and is widespread among many Ugandan schools and universities, according to China Daily. The campaign was launched in response to "shocking statistics that show HIV prevalence in Uganda is five times higher in girls aged 15 to 19 than in the boys the same age," according to program materials.

As part of efforts to curb cross-generational sex, posters have been placed around busy areas in Kampala, Uganda, and at universities. One poster that pictures an older man asked, "Would you let this man be with your teenage daughter?" Another poster, titled "Something for Something Love," shows a man in police custody while a pregnant girl hands her mother a cell phone that the man gave her for sex, China Daily reports.

Helen Mukiibi, deputy news editor of Uganda's New Vision, said, "We know that some rich men in Uganda have HIV/AIDS and [that] many young girls have been infected because they willingly became mistresses of these men, many of whom are married." Peter Mugyenyi, chief of Kampala's Joint Clinical Research Centre, said, "Only a low percentage of women [in Uganda] have jobs, and most women can't control money in their households because they don't work." He added, "Women should be more independent, and it will be a way to stop cross-generational sex" (Li, China Daily, 6/11).


Reprinted with kind permission from kaisernetwork. You can view the entire Kaiser Daily Health Policy Report, search the archives, or sign up for email delivery at kaisernetwork/dailyreports/healthpolicy. The Kaiser Daily Health Policy Report is published for kaisernetwork, a free service of The Henry J. Kaiser Family Foundation.

© 2008 Advisory Board Company and Kaiser Family Foundation. All rights reserved.

Obama, Sen. Snowe Discuss Women's Health Needs As Part Of NBC's 'A Woman's Nation' Series

NBC News recently aired a series called "A Woman's Nation" looking at the findings of "The Shriver Report," a collaboration between California first lady Maria Shriver and the Center for American Progress that examines the shift in gender roles in the American work force. Wednesday's segment of the series featured an interview with President Obama, who said that when he is making policy decisions, he is "constantly thinking about how can we strengthen families, how can we provide more resources, greater flexibility, so that women can thrive." He added that he thinks "if women are thriving, everybody's going to be thriving" (Guthrie, "Nightly News With Brian Williams," NBC, 10/21).

An interview with Sen. Olympia Snowe (R-Maine) was included for a segment on women and health care reform. When asked about addressing the practice of gender rating -- charging women more for the same coverage as men -- in the private health insurance market, Snowe said it is "critical" to restructure the private market so women who work for small businesses or are self-employed "have access to more affordable health care." Snowe also emphasized the need to reduce medical costs in the U.S., adding that thousands of people lose their health coverage annually. The situation is "a crisis that's only going to get worse over time," she said, adding that "in the short term, we are seeing double-digit [cost] increases ... and that will only grow exponentially worse." Higher health care costs "will be detrimental to women and their children, without question, because they are the first one[s] who bear the brunt of ... rising health care costs," Snowe said (Mitchell, MSNBC, 10/21).

Another segment in the series focused on the role of women as caregivers to their families and included comments from Marcia Greenberger of the National Women's Law Center. Women continue to "carry the overwhelming burden of dealing with family needs," and they are "often the deciders of health care not only for themselves and their children, but also of elderly parents or relatives," Greenberger said. NBC News Chief Medical Editor Nancy Snyderman reports that women caregivers are twice as likely to have chronic health conditions as noncaregivers but are less likely to have health insurance. They also face higher insurance rates than men in some states, "and it's taking a toll," Snyderman reports. "Women are more likely to go into bankruptcy because of unpaid medical bills than men," Greenberger said. She added that women "scrimp so that they can put food on the table for their kids," and will do things like avoid filling prescriptions to save money (Snyderman, NBC News, 10/21).

In conjunction with the series, MSNBC's "Hardball with Chris Matthews" also featured an interview with Shriver about the report. During her appearance on the program, Shriver discussed the role of women in the workplace, their home environments and as caregivers to their families. "Women are using their voices to demand changes in the workplace and from their government," Shriver said. She added, "They're not going to accept gender discrimination in health care. I thought it was great to see Olympia Snowe, a Republican woman, be so forceful this past week in the debate," when she became the first Republican to vote for a health reform bill (Matthews, "Hardball with Chris Matthews," MSNBC, 10/19).


Reprinted with kind permission from nationalpartnership. You can view the entire Daily Women's Health Policy Report, search the archives, or sign up for email delivery here. The Daily Women's Health Policy Report is a free service of the National Partnership for Women & Families, published by The Advisory Board Company.


© 2009 The Advisory Board Company. All rights reserved.