According to Gerson, cohabitation is not "working out ... very well." He states that "[r]elationships defined by lower levels of commitment are, not unexpectedly, more likely to break up," noting that 75% of children born to cohabitating parents "will see their parents split up by the time they turn 16."
Although it "may not be realistic to maintain the connection between marriage and sex, it remains essential to maintain the connection between marriage and childbearing," according to Gerson. He adds that the "age of first marriage is important to marital survival and happiness." He continues, "There is little use in preaching against a hurricane of social change," but "delaying marriage creates moral, emotional and practical complications." The "challenge, as always, is to humanize change," Gerson says, concluding, "The answer, even in the relational wasteland, is responsibility, commitment and sacrifice for the sake of children" (Gerson, Washington Post, 9/16).
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.
четверг, 27 октября 2011 г.
Increasing Cohabitation By Young People Disrupts 'Courtship Narrative,' Post Columnist Writes
The traditional "courtship narrative" of "dating, engagement, marriage, children," has been "disrupted without being replaced, leaving many 20-somethings" to "evolv[e] a casual, ad hoc version of their own: cohabitation," Washington Post columnist Michael Gerson writes. According to Gerson, the average age when people marry has increased to about 26 for women and 28 for men, and the number of U.S. residents cohabitating increased fourteen fold from 1960 to 2007. It does not "seem realistic to expect most men and woman to delay sex until marriage at 26 or 28," so for some people cohabitation is "a test-drive for marriage," Gerson writes, adding, "For others, it's an easier, low-commitment alternative to marriage."
четверг, 20 октября 2011 г.
Opinion Piece Questions Depictions Of Pregnant Teens On MTV Reality Shows
The MTV reality show "16 and Pregnant" and its spin-off, "Teen Mom," both "are designed to deter adolescents from becoming mothers -- a relevant issue as teen pregnancy rates are up for the first time in more than a decade," Double X managing editor Jessica Grose writes in a Slate opinion piece. Grose says that the shows "follow adolescent mothers as they struggle to raise their children" and "are produced in partnership with the National Campaign To Prevent Teen and Unplanned Pregnancy." She asks, "Can a television show really convince teens that they should wait to become mothers? And even if it can, is it worth the cost of offering up a handful of young women as public examples during perhaps the most vulnerable period of their lives?" According to Grose, there is evidence showing that shows like these impact teen sexual behavior. A recent Ohio State University study found that "college-age women who watched an episode of 'The O.C.' that depicted a pregnancy scare were more likely to try to use birth control than women who watched a show in a news format about the hardships of teen motherhood."
Grose continues, "But at what price does '16 and Pregnant' get this message across?" She writes that she worries what "repercussions" a pregnant minor would face "for putting her life out there and wonder[s] whether she could really understand the consequences." She adds, "While MTV aims to send a good message with earnest shows about teen motherhood, the message gets muddled when it is in the context of the networks other reality programming," notably the show "Jersey Shore," "which depicted consequence-free carousing."
Grose reports that the executive producer of "16 and Pregnant," Morgan J. Freeman, says the participants are financially compensated for their time but did not provide details. Freeman said, "I don't think there's anything of an exploitative nature in what we're doing," adding, "We do our best to show a very unvarnished and honest portrayal of their experience." Grose writes, "But maybe essential truth isn't in the best interest of these girls, for whom excising some of their most unpleasant moments could be the equivalent of a televised white lie" (Grose, Slate, 2/22).
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.
© 2010 The Advisory Board Company. All rights reserved.
четверг, 13 октября 2011 г.
Pre-Eclampsia During Pregnancy Could Indicate Future Heart Disease Risk, Studies Say
Women who experience pre-eclampsia during pregnancy have more heart attacks, strokes and blood clots later in life than women without the condition, according to several studies, the New York Times reports. Pre-eclampsia occurs in about 5% of pregnancies, affecting about 300,000 women annually in the U.S. According to the Times, researchers do not know what causes the condition, which is marked by high blood pressure, protein in the urine, severe swelling, headaches and vision problems. Although pre-eclampsia usually disappears soon after delivery, a "growing body of evidence" indicates that women who develop pre-eclampsia have twice the risk of having a heart attack or stroke later in life, the Times reports.
Graeme Smith, professor of obstetrics and gynecology at Queen's University in Ontario, currently is tracking about 600 women after pregnancy, half of whom had pre-eclampsia. For Smith's most recent study, published last month in the American Journal of Obstetrics and Gynecology, researchers compared 70 women from the pre-eclampsia group and 70 women without the condition. The study found that one year after delivery, women in the pre-eclampsia group had higher blood pressure, cholesterol, blood sugar and body mass index than the unaffected women. According to the Times, another study published this year found that women with pre-eclampsia were more likely to form blood clots and a 2007 study identified greater prevalence of artery hardening among women who had high blood pressure during pregnancy. David Williams, an obstetrician at the University College London, in 2007 published an analysis of 25 pre-eclampsia studies, finding that about four out of 100 women in their mid-40s with a history of normal pregnancy would be expected to have a heart attack or stroke 10 years later. Williams said that the proportion rises to eight out of 100 among women who had pre-eclampsia during pregnancy and that it rises even higher among women who have had pre-eclampsia more than once. Thomas Easterling, an obstetrician and pre-eclampsia researcher at the University of Washington Medical School, said data from such studies are "overwhelming." Smith added that such findings are "a wake-up call," particularly because the women with pre-eclampsia "are, for the most part, young, healthy women."
According to the Times, most researchers do not believe that pre-eclampsia directly increases the risk of heart disease. Smith said that it seems more likely that the condition is an early indicator of the health of a woman's heart. He called pregnancy a type of stress test, adding, "How much or how badly you fail that stress test really is an indicator of your future health risk." According to the Times, Williams now advises women with pre-eclampsia to have frequent screenings for cholesterol levels, blood sugar and blood pressure, and to seek treatment if the levels are high. However, barriers remain for increasing awareness of the link between pre-eclampsia and heart health. Smith said the association is "not readily appreciated by physicians," adding, "If you ask a cardiologist, they go, 'I never heard of it.'" According to Daniel Jones, dean of University of Mississippi School of Medicine and former president of the American Heart Association, an expert panel responsible for revising national blood pressure guidelines currently is evaluating the recent evidence linking pre-eclampsia to heart disease. Smith said increased awareness about the two conditions might allow physicians to identify a woman's heart disease risk sooner. "The earlier you diagnose them, the more likely you are to prevent cardiovascular disease," he said, adding, "This is an opportunity where people can change their future (Westphal, New York Times, 3/17).
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.
Graeme Smith, professor of obstetrics and gynecology at Queen's University in Ontario, currently is tracking about 600 women after pregnancy, half of whom had pre-eclampsia. For Smith's most recent study, published last month in the American Journal of Obstetrics and Gynecology, researchers compared 70 women from the pre-eclampsia group and 70 women without the condition. The study found that one year after delivery, women in the pre-eclampsia group had higher blood pressure, cholesterol, blood sugar and body mass index than the unaffected women. According to the Times, another study published this year found that women with pre-eclampsia were more likely to form blood clots and a 2007 study identified greater prevalence of artery hardening among women who had high blood pressure during pregnancy. David Williams, an obstetrician at the University College London, in 2007 published an analysis of 25 pre-eclampsia studies, finding that about four out of 100 women in their mid-40s with a history of normal pregnancy would be expected to have a heart attack or stroke 10 years later. Williams said that the proportion rises to eight out of 100 among women who had pre-eclampsia during pregnancy and that it rises even higher among women who have had pre-eclampsia more than once. Thomas Easterling, an obstetrician and pre-eclampsia researcher at the University of Washington Medical School, said data from such studies are "overwhelming." Smith added that such findings are "a wake-up call," particularly because the women with pre-eclampsia "are, for the most part, young, healthy women."
According to the Times, most researchers do not believe that pre-eclampsia directly increases the risk of heart disease. Smith said that it seems more likely that the condition is an early indicator of the health of a woman's heart. He called pregnancy a type of stress test, adding, "How much or how badly you fail that stress test really is an indicator of your future health risk." According to the Times, Williams now advises women with pre-eclampsia to have frequent screenings for cholesterol levels, blood sugar and blood pressure, and to seek treatment if the levels are high. However, barriers remain for increasing awareness of the link between pre-eclampsia and heart health. Smith said the association is "not readily appreciated by physicians," adding, "If you ask a cardiologist, they go, 'I never heard of it.'" According to Daniel Jones, dean of University of Mississippi School of Medicine and former president of the American Heart Association, an expert panel responsible for revising national blood pressure guidelines currently is evaluating the recent evidence linking pre-eclampsia to heart disease. Smith said increased awareness about the two conditions might allow physicians to identify a woman's heart disease risk sooner. "The earlier you diagnose them, the more likely you are to prevent cardiovascular disease," he said, adding, "This is an opportunity where people can change their future (Westphal, New York Times, 3/17).
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.
четверг, 6 октября 2011 г.
Obesity And Physical Inactivity Poses Arthritis Risk, Especially For Women
Researchers from the Toronto Western Research Institute noted a higher prevalence of arthritis and arthritis-attributable activity limitations (AAL) in the U.S. versus the Canadian population. The authors attribute the higher prevalence of arthritis and AAL to a greater level of obesity and physical inactivity in Americans, particularly women. Full findings of this study are published in the March issue of Arthritis Care & Research, a journal of the American College of Rheumatology.
Arthritis is the leading cause of physical disability, and one of the most frequently reported chronic conditions in the U.S. and Canada. Those in mid to late life are particularly vulnerable to this disabling condition, which is expected to increase in both countries due to the aging baby boomer population. According to a 2005 figure from the National Arthritis Data Workgroup more than 21% of American adults (46 million) have arthritis or another rheumatic condition and over 60% of arthritis patients are women. The 2008 Canadian Community Health Survey reported 15.3% (4.3 million) of Canadians have some form of arthritis, with more women then men affected.
This study is the first to provide a direct comparison of U.S. and Canadian data in search of between-country disparities associated with the prevalence of arthritis and AAL. The authors analyzed results from the Joint Canada/United States Survey of Health (JCUSH) conducted in cooperation by Statistics Canada and the U.S. National Center for Health Statistics during 2002-2003. Data were obtained for 3,505 Canadians and 5,183 Americans with an overall response rate of 65.5% and 50.2%, respectively.
Results show that in the U.S. the prevalence of arthritis was 18.7% and AAL was 9.6%, while equivalent estimates in Canada were 16.8% and 7.7%, respectively. Researchers noted that arthritis prevalence was higher in American women at 23.3% compared with 19.6% of Canadian women. Women in the U.S. also had a higher prevalence of AAL than Canadian women at 13.0% versus 9.2%. The overall occurrence of arthritis and AAL in men was similar in both countries at roughly 14% and 6%, respectively.
"Our study results uggest that the higher prevalence of arthritis and AAL in the U.S. may be a consequence of greater obesity and physical inactivity in that country, particularly in women," noted Dr. Badley. "Public health initiatives that promote healthy weight and physical activity may benefit from including arthritis concerns to its message, and could potentially reduce the incidence of arthritis and AAL," concluded Dr. Badley.
Source: Wiley - Blackwell
Arthritis is the leading cause of physical disability, and one of the most frequently reported chronic conditions in the U.S. and Canada. Those in mid to late life are particularly vulnerable to this disabling condition, which is expected to increase in both countries due to the aging baby boomer population. According to a 2005 figure from the National Arthritis Data Workgroup more than 21% of American adults (46 million) have arthritis or another rheumatic condition and over 60% of arthritis patients are women. The 2008 Canadian Community Health Survey reported 15.3% (4.3 million) of Canadians have some form of arthritis, with more women then men affected.
This study is the first to provide a direct comparison of U.S. and Canadian data in search of between-country disparities associated with the prevalence of arthritis and AAL. The authors analyzed results from the Joint Canada/United States Survey of Health (JCUSH) conducted in cooperation by Statistics Canada and the U.S. National Center for Health Statistics during 2002-2003. Data were obtained for 3,505 Canadians and 5,183 Americans with an overall response rate of 65.5% and 50.2%, respectively.
Results show that in the U.S. the prevalence of arthritis was 18.7% and AAL was 9.6%, while equivalent estimates in Canada were 16.8% and 7.7%, respectively. Researchers noted that arthritis prevalence was higher in American women at 23.3% compared with 19.6% of Canadian women. Women in the U.S. also had a higher prevalence of AAL than Canadian women at 13.0% versus 9.2%. The overall occurrence of arthritis and AAL in men was similar in both countries at roughly 14% and 6%, respectively.
"Our study results uggest that the higher prevalence of arthritis and AAL in the U.S. may be a consequence of greater obesity and physical inactivity in that country, particularly in women," noted Dr. Badley. "Public health initiatives that promote healthy weight and physical activity may benefit from including arthritis concerns to its message, and could potentially reduce the incidence of arthritis and AAL," concluded Dr. Badley.
Source: Wiley - Blackwell
четверг, 29 сентября 2011 г.
American Cancer Society Releases Guidelines On Merck's HPV Vaccine Gardasil
The American Cancer Society in the Jan. 19 issue of its journal CA: A Cancer Journal for Clinicians recommended that girls ages 11 and 12 receive Merck's human papillomavirus vaccine Gardasil, the Washington Times reports (Altamirano, Washington Times, 1/20). Gardasil in clinical trials has been shown to be 100% effective in preventing infection with HPV strains 16 and 18, which together cause about 70% of cervical cancer cases. FDA in July 2006 approved Gardasil for sale and marketing to girls and women ages nine to 26, and CDC's Advisory Committee on Immunization Practices later that month voted unanimously to recommend that girls ages 11 and 12 receive the vaccine (Kaiser Daily Women's Health Policy Report, 1/12). The ACS guidelines state that girls as young as age nine can receive the vaccine and recommend the vaccine for girls and women ages 13 to 18 to complete the three-shot series or to catch up on missed shots (Washington Times, 1/20). The guidelines also say that there is not enough data to recommend whether women ages 19 to 26 should be vaccinated. Harmon Eyre, lead author of the guidelines and chief medical officer of ACS, in a statement said, "The vaccine holds remarkable potential, but unless the same population of women who right now do not have access to or do not seek regular Pap tests gets this vaccine, it will have limited impact." Eyre added that it is "critical" that women continue to be screened regularly even if they have received the vaccine (HealthDay News/CBC News, 1/19). Several states recently have introduced legislation that would require girls as young as age 11 to receive Gardasil unless parents and guardians choose to opt out of the requirement, the Times reports. According to the National Conference of State Legislatures, all 50 states and the District of Columbia allow parents and guardians to opt out of vaccines for medical reasons, and all states except Mississippi and West Virginia allow religious opt-outs, while 20 states allow opt-outs for philosophical or personal reasons. ACS estimates that 11,150 cervical cancer cases will be diagnosed this year in the U.S. and that 3,670 women will die from the disease (Washington Times, 1/20).
Related Opinion Piece
Legislation that would require girls entering the sixth grade in Washington, D.C., Public Schools to receive Gardasil is a "small but critical component" of a larger strategy to fight cervical cancer, City Council members and legislation sponsors David Catania and Mary Cheh, write in a Washington Post opinion piece (Catania/Cheh, Washington Post, 1/21). According to the legislation, female students would be required to show proof of vaccination before enrolling in the sixth grade unless their parent or legal guardian chose to "opt out." The bill does not specify the circumstances under which girls would be allowed an exemption (Kaiser Daily Women's Health Policy Report, 1/10). "While we strongly endorse the use of the vaccine, this decision rests ultimately with parents and guardians," Catania and Cheh write. According to Catania and Cheh, the district has the highest cervical cancer rate in the U.S., and the D.C. Cancer Coalition estimates that 92% of the district's cases occurring among minority women. Gardasil is the "first major breakthrough in preventing cervical cancer since the introduction of the Pap test in the 1940s," Catania and Cheh write, concluding, "Our city has the resources, talent and leadership to prolong the lives of our residents. However, complacency will not bring this about" (Washington Post, 1/21).
"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.
View drug information on Gardasil.
четверг, 22 сентября 2011 г.
SAGE Partners With The Society For Gynecologic Investigation
SAGE Publications is pleased to announce it will begin publishing the journal Reproductive Sciences on behalf of the Society for Gynecologic Investigation (SGI). Formerly known as the Journal of the Society for Gynecologic Investigation, the publication will move from Elsevier to SAGE in January 2007. A new cover design will debut with the first SAGE issue.
Reproductive Sciences publishes significant scientific papers advancing knowledge in all aspects of reproductive biology, including the disciplines of perinatology, obstetrics, gynecology, reproductive endocrinology, infertility, gynecologic oncology, and related fields. The journal's impact factor is 2.887, and it is ranked 8 out of 57 obstetrics and gynecology journals in the 2005 Thomson Scientific Journal Citation Reports.
"We're pleased to add this highly regarded publication in women's health to our expanding collection of science and medical journals, many of which we publish on behalf of prestigious societies like SGI," commented Dr. Peter Binfield, SAGE Journals Editorial Director. "SAGE offers high quality publishing services and is well equipped to broaden the reach and impact of the journals we publish."
"The SGI chose SAGE to publish Reproductive Sciences after an extensive search," added Linda Giudice, SGI President, 2006-2007. "SAGE's publishing experience, in healthcare in particular, as well as its editorial staff, all contributed to our decision. We anticipate a great partnership in the future to publish research focused on women's health and the reproductive sciences."
New ISSN numbers have been assigned due to the title change, and they are 1933-7191 for print and 1933-7205 for online. Institutional subscriptions will include Combined (Print and E-access), E-access, or Print Only options. Online access will not be disrupted during the transition to SAGE, and the journal will be available electronically on SAGE Journals Online prior to the first print issue in January 2007. The journal's new web site will be rs.sagepub/.
About SAGE
SAGE Publications is a leading international publisher of journals, books, and electronic media for academic, educational, and professional markets. Since 1965, SAGE has helped inform and educate a global community of scholars, practitioners, researchers, and students spanning a wide range of subject areas including business, humanities, social sciences, and science, technology and medicine. SAGE Publications, a privately owned corporation, has principal offices in Thousand Oaks, California, London, United Kingdom, and New Delhi, India. sagepublications/
About SGI
The Society for Gynecologic Investigation is the premier scientific organization in obstetrics and gynecology throughout the world. Approximately one-third of SGI members are basic scientists in reproductive biology and related disciplines. The other two-thirds comprise clinical investigators and scientific leaders in obstetrics and gynecology, pediatrics, anesthesiology, and internal medicine. Many of the members are recipients of grants from National Institutes of Health, and often serve on study sections and advisory councils for government and private foundations. sgionline/
Contact: Valerie Johns
SAGE Publications
Reproductive Sciences publishes significant scientific papers advancing knowledge in all aspects of reproductive biology, including the disciplines of perinatology, obstetrics, gynecology, reproductive endocrinology, infertility, gynecologic oncology, and related fields. The journal's impact factor is 2.887, and it is ranked 8 out of 57 obstetrics and gynecology journals in the 2005 Thomson Scientific Journal Citation Reports.
"We're pleased to add this highly regarded publication in women's health to our expanding collection of science and medical journals, many of which we publish on behalf of prestigious societies like SGI," commented Dr. Peter Binfield, SAGE Journals Editorial Director. "SAGE offers high quality publishing services and is well equipped to broaden the reach and impact of the journals we publish."
"The SGI chose SAGE to publish Reproductive Sciences after an extensive search," added Linda Giudice, SGI President, 2006-2007. "SAGE's publishing experience, in healthcare in particular, as well as its editorial staff, all contributed to our decision. We anticipate a great partnership in the future to publish research focused on women's health and the reproductive sciences."
New ISSN numbers have been assigned due to the title change, and they are 1933-7191 for print and 1933-7205 for online. Institutional subscriptions will include Combined (Print and E-access), E-access, or Print Only options. Online access will not be disrupted during the transition to SAGE, and the journal will be available electronically on SAGE Journals Online prior to the first print issue in January 2007. The journal's new web site will be rs.sagepub/.
About SAGE
SAGE Publications is a leading international publisher of journals, books, and electronic media for academic, educational, and professional markets. Since 1965, SAGE has helped inform and educate a global community of scholars, practitioners, researchers, and students spanning a wide range of subject areas including business, humanities, social sciences, and science, technology and medicine. SAGE Publications, a privately owned corporation, has principal offices in Thousand Oaks, California, London, United Kingdom, and New Delhi, India. sagepublications/
About SGI
The Society for Gynecologic Investigation is the premier scientific organization in obstetrics and gynecology throughout the world. Approximately one-third of SGI members are basic scientists in reproductive biology and related disciplines. The other two-thirds comprise clinical investigators and scientific leaders in obstetrics and gynecology, pediatrics, anesthesiology, and internal medicine. Many of the members are recipients of grants from National Institutes of Health, and often serve on study sections and advisory councils for government and private foundations. sgionline/
Contact: Valerie Johns
SAGE Publications
четверг, 15 сентября 2011 г.
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
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
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