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:12/22/2014)... Explorys, the leader in big data-driven healthcare transformation, ... Yarrington as Vice President of Operations, Adam Wallace as ... President of Solutions. These new leaders are part of ... to support client demand for the company’s big data ... of its partner network. , Since the company ...
(Date:12/22/2014)... Give a loved one the greatest gift of ... vitality. , For a limited time, HealthiPlus ( https://healthiplus.com/christmas-gift-packages/ ... special Holiday Wellness gift packages at drastically reduced prices ... contains cutting-edge, proven nutritional support for joints, mental functioning ... we age. , Joint Health Plus contains ...
(Date:12/22/2014)... December 22, 2014 The MedTech industry is ... a wholly owned subsidiary of PartnerTech AB of Sweden, is ... recently achieved additional ISO Certification. , All signs point to ... and the likelihood of a repeal of the excise tax ... The industry is anticipating annual growth of 9.3% and PartnerTech ...
(Date:12/22/2014)... New York NY (PRWEB) December 22, 2014 ... reports that a federal panel of judges has granted ... lawsuits in the U.S. District Court, Eastern District ... (JPML) issued an order on December 12 to transfer ... actions–pending in 22 districts to the Louisiana court for ...
(Date:12/22/2014)... December 22, 2014 TheHardwareCity.com now stocks ... with many useful features. Customers of the large online ... the new gloves delivered to their home or workplace ... hand tools that incorporate heavy duty magnets, which make ... allows workers to store metal parts on the back ...
Breaking Medicine News(10 mins):Health News:Explorys Continues to Experience Rapid Growth, Adds Three Healthcare IT Executives to Its Leadership Team 2Health News:Explorys Continues to Experience Rapid Growth, Adds Three Healthcare IT Executives to Its Leadership Team 3Health News:You Still Have Time to Give the Gift of Health and Vitality to a Mature Loved One 2Health News:PartnerTech Inc. Poised for Growth in MedTech 2Health News:Panel Orders Xarelto Lawsuits Consolidated Into Multi-District Litigation Reports Alonso Krangle LLP 2Health News:Panel Orders Xarelto Lawsuits Consolidated Into Multi-District Litigation Reports Alonso Krangle LLP 3Health News:Panel Orders Xarelto Lawsuits Consolidated Into Multi-District Litigation Reports Alonso Krangle LLP 4Health News:MagnoGrip Pro Utility Magnetic Gloves on Sale at TheHardwareCity.com 2
... in the international research consortium named MetaHit, scientists from ... an individual,s intestinal bacteria flora, regardless of nationality, gender ... of intestinal bacteria flora is hypothesised to have an ... and medicine absorbed through the gastro-intestinal tract. The results ...
... , WEDNESDAY, April 20 (HealthDay News) -- Poor ... more likely than others to cut back on health ... to a new study. Conducted by the RAND ... earlier studies, which found that so-called "medically vulnerable" people ...
... Queen,s University professor Kate Harkness has found that a ... substantially increases the risk of depression in adolescence by ... Adolescents with a history of maltreatment and a mild ... of the stress hormone cortisol than is normal in ...
... Men are more likely to see issues in black-and-white, whereas women ... contends. British researchers asked 113 volunteers to judge how 50 ... The objects and categories were highly likely to stimulate debate or ... a tool? Men were found to be more likely to ...
... School of Medicine researcher has developed a potential ... prevalent sexually transmitted disease and the leading cause ... Ph.D., professor of immunology and microbiology, internal medicine ... demonstrated a vaccine effect to inoculate against Chlamydia ...
... of severe traumatic brain injury (TBI), the U.S. Department ... this type of injury receive adequate protein and calories ... weeks of treatment, says a new report from the ... severely brain-injured patients shows that providing energy and protein ...
Cached Medicine News:Health News:What's your intestinal bacteria type? 2Health News:High-Deductible Health Plans Bring Equal Savings to All: Study 2Health News:WSU files for patent on researcher's vaccine technology for chlamydia 2Health News:WSU files for patent on researcher's vaccine technology for chlamydia 3Health News:WSU files for patent on researcher's vaccine technology for chlamydia 4Health News:Protein and calories can help lessen effects of severe traumatic brain injury 2
(Date:12/19/2014)... YORK , Dec. 18, 2014 Somewhere ... addressing hearing health was forgotten. But Audicus , ... to hear better this new year. Hearing ... facing the aging population, though it is often unaddressed. ... in four has a hearing aid, mainly due to ...
(Date:12/19/2014)... , Dec. 18, 2014  Decision Resources Group finds ... United States will increase to a value ... primarily driven by expansion in the large direct energy ... will be increasingly adopted due to the advantages they ... Other key findings from Decision Resources Group,s coverage of ...
(Date:12/19/2014)... 2014 Baptist Health Lexington is the first facility ... full Atrial Fibrillation with Electrophysiology Services (EPS) Accreditation status from ... fibrillation is the most common cardiac arrhythmia and has become ... lead to stroke and possible death. More than 5 million ... atrial fibrillation and the numbers are rapidly increasing as the ...
Breaking Medicine Technology:Audicus Will Help People Resolve to Hear Better in 2015 2U.S. Laparoscopic Device Market Will Reach Over $4.3 Billion by 2023 2U.S. Laparoscopic Device Market Will Reach Over $4.3 Billion by 2023 3Baptist Health Lexington First in the Nation to Receive Atrial Fibrillation with EPS Accreditation 2Baptist Health Lexington First in the Nation to Receive Atrial Fibrillation with EPS Accreditation 3
... WASHINGTON, Jan. 20, 2012  National Pharmaceutical Council (NPC) Chief Science ... "From Methods to Policy," in the new peer-reviewed, bimonthly publication, ... serves as an associate editor for the Journal . ... "the intended and unintended consequences of CER," as a way ...
... -- China Health Resource, Inc. (OTCBB: CHRI), announced today that ... a leading producer of Gastrodia in Pingwu, Sichuan.  This exclusive ... 2015, and extends the very successful product line for an ... March 31, 2012.  The quality of Gastrodia under this agreement ...
Cached Medicine Technology:National Pharmaceutical Council Debuts Column, "From Methods to Policy," In New Journal of Comparative Effectiveness Research 2China Health Resource Signs 3 Year Exclusive Agreement for Acquisition of Gastrodia Extending Very Successful Product Line Through 2015 2China Health Resource Signs 3 Year Exclusive Agreement for Acquisition of Gastrodia Extending Very Successful Product Line Through 2015 3
For the direct colorimetric determination of alkaline phosphatase in human serum....
Auto LDL-Cholesterol, automated analyzer test kits....
For the quantitative determination of uric acid in serum....
For the quantitative determination of uric acid in serum....
Medicine Products: