Navigation Links
New test shows promise for accurate early diagnosis of Turner syndrome
Date:12/8/2010

Chevy Chase, MDA recent study accepted for publication in The Endocrine Society's Journal of Clinical Endocrinology & Metabolism (JCEM) has demonstrated a novel and accurate test for early diagnosis of Turner syndrome. Turner syndrome affects one in 1,500 to 2,000 female live births and early diagnosis allows for the timely management of short stature and co-morbid conditions including cardiac and renal problems.

Turner syndrome (TS) is the most common genetic problem affecting girls with short stature. Average adult height in untreated girls with TS is 4 feet, 8 inches, yet with early diagnosis and initiation of growth hormone therapy, normal or near-normal adult stature can be achieved. Unfortunately, the vast majority of girls with TS go unrecognized until after 10 years of age. This new study suggests a new way to diagnose TS to help prevent delayed recognition.

"We have developed a novel approach for diagnosing TS that can be used to practically test large numbers of girls and is much quicker and less expensive than the current methods," said Scott Rivkees, MD, of Yale University School of Medicine in New Haven, Conn. and lead author of the study. "The new test would also provide the benefit of early detection of other health conditions associated with TS, such as potential renal and cardiac problems."

TS occurs when an X-chromosome is completely or partially deleted. In this study, researchers developed a test based on a quantitative method of genotyping to detect X-chromosome abnormalities. Of 90 clinically-confirmed TS individuals tested, the assay correctly identified 87 (96.7 percent).

"Because of the small amount of DNA needed for the test, ample DNA can be extracted from cheek swabs or from newborn screening blood spots that are routinely collected," said Rivkees. "If broadly used in the clinical setting at young ages, this test can prevent the delayed recognition of TS."


'/>"/>

Contact: Aaron Lohr
alohr@endo-society.org
240-482-1380
The Endocrine Society
Source:Eurekalert

Page: 1

Related medicine news :

1. Worm Therapy Shows Promise for Ulcerative Colitis
2. Celebrex Shows Potential in Preventing Some Skin Cancers: Study
3. New prostate cancer imaging shows real-time tumor metabolism
4. PARP inhibitor, MK-4827, shows anti-tumor activity in first trial in humans
5. Wake up, Mom -- study shows gender differences in sleep interruptions
6. Depression linked to HIV risk among South African young people, study shows
7. Gene Therapy Shows Potential Against Heart Failure
8. New treatment for lung cancer shows promise
9. Adding pharmacists to docs offices helps patient outcomes, study shows
10. Hurdles ahead for health care reform primary care model, U-M study shows
11. Pleasurable behaviors reduce stress via brain pathways, research shows
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/14/2014)... Dry eyes, contrary to popular opinion, are not ... have pointed out, today’s technology has practically enabled younger and ... result of using laptops and smartphones to go about ... this phenomenon, it has become imperative for people of today ... from having dry eyes, but prevent it from ever happening ...
(Date:7/14/2014)... Sometimes, thinking “inside the box” can be ... first product release, Joyboxx™ - The world’s only hygienic ... , Inventor and CEO, Deborah Semer began designing a ... solution for their ‘toys’ after she realized no such ... , Semer met 30-year industry veteran Phyllis Heppenstall, the ...
(Date:7/14/2014)... NATURALLY, DANNY SEO, a new magazine from ... a Fall issue that hits newsstands nationwide on July ... healthy, natural and good for you life with a ... travel, home, and entertaining all through Danny’s unique point-of-view ... of gimmicky weight loss tips and fluffy celebrity profiles, ...
(Date:7/14/2014)... July 14, 2014 The Cabin Chiang ... its new Alumni Community website – a ... to help them maintain lifelong recovery wherever they live ... providing clients the tools to help them maintain their ... essential part of any reputable treatment programme. As a ...
(Date:7/14/2014)... new analysis has found that rates of testicular cancer ... Hispanic American men, but not among their non-Hispanic counterparts. ... journal of the American Cancer Society, the findings indicate ... of testicular cancer in Hispanic adolescents and young adults, ... cause of this trend. , Testicular cancer is one ...
Breaking Medicine News(10 mins):Health News:Dry Eye Handbook Review | Taking Care of One’s Vision by Using Natural Methods – Vinamy.com 2Health News:Dry Eye Handbook Review | Taking Care of One’s Vision by Using Natural Methods – Vinamy.com 3Health News:Passionate Playground launches Joyboxx 2Health News:Passionate Playground launches Joyboxx 3Health News:Harris Publications and Danny Seo Launch NATURALLY, DANNY SEO Magazine 2Health News:Harris Publications and Danny Seo Launch NATURALLY, DANNY SEO Magazine 3Health News:Harris Publications and Danny Seo Launch NATURALLY, DANNY SEO Magazine 4Health News:Harris Publications and Danny Seo Launch NATURALLY, DANNY SEO Magazine 5Health News:Harris Publications and Danny Seo Launch NATURALLY, DANNY SEO Magazine 6Health News:The Cabin Chiang Mai Addiction Rehab Launches Industry-leading Aftercare Service 2Health News:The Cabin Chiang Mai Addiction Rehab Launches Industry-leading Aftercare Service 3Health News:Testicular cancer rates are on the rise in young Hispanic Americans 2
... ... ... ... ...
... For some Canadians, any cut such as from dental work ... they are not hemophiliacs, for some an ordinary bruise can ... elbows and ankles are crippled when bleeding seeps into joints. ... for recovery. Now a team led by McMaster ...
... with communications and recovery for people with disabilities following ... a research paper in the International Journal of ... Katrina and Rita, other natural disasters, and even technological ... serious need for disaster and emergency preparedness for people ...
... of Contemporary Spirituality will take place at the University of ... an astounding 32 sessions and dozens of lectures presenting studies ... around the world. "This is a wide phenomenon that touches ... the academic world and its various disciplines have found it ...
... ... ... Maryland Gov. Martin O’Malley proposes cutting $123 million from Medicaid for the 2011 budget, in ... Todd Eberly, assistant professor of political science and coordinator of public policy studies at ...
... with aura, researchers say , THURSDAY, March 4 (HealthDay News) ... the head may offer relief for some migraine sufferers, researchers ... experience "aura," expand on previous research by using a device ... doctor,s office. , It,s unclear, however, how expensive the treatment ...
Cached Medicine News:Health News:Hard to Treat Diseases (HTDS) Collagenna Skin Care Business Model and Chilean Update 2Health News:Hard to Treat Diseases (HTDS) Collagenna Skin Care Business Model and Chilean Update 3Health News:Hard to Treat Diseases (HTDS) Collagenna Skin Care Business Model and Chilean Update 4Health News:Hard to Treat Diseases (HTDS) Collagenna Skin Care Business Model and Chilean Update 5Health News:Hard to Treat Diseases (HTDS) Collagenna Skin Care Business Model and Chilean Update 6Health News:Hard to Treat Diseases (HTDS) Collagenna Skin Care Business Model and Chilean Update 7Health News:Hard to Treat Diseases (HTDS) Collagenna Skin Care Business Model and Chilean Update 8Health News:Hard to Treat Diseases (HTDS) Collagenna Skin Care Business Model and Chilean Update 9Health News:Hard to Treat Diseases (HTDS) Collagenna Skin Care Business Model and Chilean Update 10Health News:Genetic cause discovered for rare bleeding disorder 2Health News:Emergency online communities 2Health News:Proposed Medicaid Cuts Threatens Health Care Access for 400,000 Maryland Children 2Health News:Proposed Medicaid Cuts Threatens Health Care Access for 400,000 Maryland Children 3Health News:New Hope for Migraine Patients 2
(Date:7/10/2014)... -- The U.S. Department of Health and Human Services (HHS) ... Case Medical Center Seidman Cancer Center totaling $4.7 million ... care for patients with complex cancer. ... unique model developed at UH to enhance care for ... demonstrated need for high health care utilization.  ...
(Date:7/10/2014)... WEST JORDAN, Utah , July 10, 2014 /PRNewswire/ ... imaging solutions, and MiE America , Inc., a ... systems, have entered into a long-term agreement naming BC ... in the US. MiE and BC ... a strategic agreement to establish BC Technical as the ...
(Date:7/10/2014)... 10, 2014 CVS Caremark Corporation (NYSE: ... approved a quarterly dividend of $0.275 (27.5 cents) per share ... August 1, 2014, to holders of record on July 21, ... Caremark is dedicated to helping people on their path to ... the United States . Through the company,s more ...
Breaking Medicine Technology:University Hospitals Case Medical Center Awarded $4.7 Million Grant from U.S. Department of Health and Human Services 2University Hospitals Case Medical Center Awarded $4.7 Million Grant from U.S. Department of Health and Human Services 3University Hospitals Case Medical Center Awarded $4.7 Million Grant from U.S. Department of Health and Human Services 4BC Technical Partners With MiE America To Be Authorized Provider Of Systems & Service 2
... 2011 In an effort to boost prescription drug ... LLC, to help promote the Didit® – one of ... and confusion of taking prescription medications. (Photo: ... simple device that sticks to any prescription container. Consumers ...
... The U.S. Food and Drug Administration announced today ... of amino-acid products marketed to treat a number of ... Cosmetic Act are met. (Logo: http://photos.prnewswire.com/prnh/20090824/FDALOGO ... doing business as CHK Nutrition, and NeuroResearch Clinics Inc., ...
Cached Medicine Technology:Rexam Teams with Didit to Enhance Prescription Drug Compliance 2FDA: Minnesota Companies Agree to Halt Sale of Amino-acid Products with Unapproved Claims 2FDA: Minnesota Companies Agree to Halt Sale of Amino-acid Products with Unapproved Claims 3
Sterile Silicone Oil for Intraocular Application....
Alcon offers medical grade perfluoropropane (SF6) intraocular gases for ophthalmological use....
Silikon 1000 (purified polydimethylsiloxane) is a highly purified long chain polydimethylsiloxane trimethylsiloxy terminated silicone oil. For use as a postoperative retinal tamponade during vitreore...
Round knurled handle, overall length 130 mm....
Medicine Products: