PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

New test shows promise for accurate early diagnosis of Turner syndrome

2010-12-09
(Press-News.org) Chevy Chase, MD—A 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."

###

Other researchers working on the study include: Anastasia Wise, Peining Li, Henry Rinder and Jeffrey Gruen of Yale University School of Medicine in New Haven, Conn.; and Karl Hager and Seiyu Hosono of JS Genetics in New Haven, Conn.

The article, "A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome," appears in the March 2011 issue of JCEM.

Founded in 1916, The Endocrine Society is the world's oldest, largest and most active organization devoted to research on hormones and the clinical practice of endocrinology. Today, The Endocrine Society's membership consists of over 14,000 scientists, physicians, educators, nurses and students in more than 100 countries. Society members represent all basic, applied and clinical interests in endocrinology. The Endocrine Society is based in Chevy Chase, Maryland. To learn more about the Society and the field of endocrinology, visit our site at www.endo-society.org.

END



ELSE PRESS RELEASES FROM THIS DATE:

Weightlifting does not appear to increase risk of arm swelling for breast cancer survivors

2010-12-09
A slowly progressive weight lifting program for breast cancer survivors did not increase their risk of lymphedema (arm swelling and discomfort), according to a study that will appear in the December 22/29 issue of JAMA. The study is being released early online to coincide with its presentation at the San Antonio Breast Cancer Symposium. Lymphedema is a frequent complication among breast cancer survivors and ranks high among their concerns, as it may impair arm function and quality of life. "Breast cancer survivors at risk for lymphedema alter activity, limit, activity, ...

Weightlifting slashes lymphedema risk after breast cancer treatment

2010-12-09
(SAN ANTONIO) -- Weightlifting may play a key role in the prevention of the painful limb-swelling condition lymphedema following breast cancer treatment, according to new research from the University of Pennsylvania School of Medicine. Combined with the team's previous findings that the exercise limits a worsening of symptoms among women who already have lymphedema, the new data cements the reversal of long-running advice that breast cancer survivors should avoid lifting anything heavier than five pounds after they finish treatment. The research results will be presented ...

Astronomers detect first carbon-rich exoplanet

2010-12-09
CAMBRIDGE, Mass. -- A team led by a former postdoctoral researcher in MIT's Department of Earth, Atmospheric and Planetary Sciences and the MIT Kavli Institute for Astrophysics, recently measured the first-ever planetary atmosphere that is substantially enriched in carbon. The researchers found that the carbon-to-oxygen ratio of WASP-12b, an exoplanet about 1.4 times the mass of Jupiter and located about 1,200 light years away, is greater than one. As they report in a paper to be published on Dec. 8 in Nature, this carbon-rich atmosphere supports the possibility that rocky ...

ASU astronomer opens new window into early universe

ASU astronomer opens new window into early universe
2010-12-09
Thirteen billion years ago our universe was dark. There were neither stars nor galaxies; there was only hydrogen gas left over after the Big Bang. Eventually that mysterious time came to an end as the first stars ignited and their radiation transformed the nearby gas atoms into ions. This phase of the universe's history is called the Epoch of Reionization (EoR), and it is intimately linked to many fundamental questions in cosmology. But looking back so far in time presents numerous observational challenges. Arizona State University's Judd Bowman and Alan Rogers of Massachusetts ...

Euthymics presents phase II data for EB-1010 in major depression at ACNP annual meeting

2010-12-09
Euthymics Bioscience, Inc. today will present Phase II clinical data demonstrating that its lead product candidate EB-1010, a next-generation antidepressant, is effective for treating major depressive disorder (MDD) based on multiple standard measures of outcome for depression. EB-1010 also improved measures of anhedonia, a hallmark symptom of MDD, which is characterized by the inability to experience pleasure. The data further demonstrate that EB-1010 is well tolerated, without the weight gain or sexual dysfunction associated with the most common pharmacological treatments ...

Scientists map what factors influence the news agenda

Scientists map what factors influence the news agenda
2010-12-09
Computer scientists have analysed over a million news articles in 22 languages to pinpoint what factors, such as the Eurovision song contest, influence and shape the news agenda in 27 EU countries. This is the first large-scale content-analysis of cross-linguistic text using artificial intelligence techniques. Every day hundreds of news outlets across Europe choose which story to cover from a wide and diverse selection. While each outlet may be making these choices based on individual criteria, clear patterns emerge when all these choices are studied over a large set ...

The double-edged sword of dominance

2010-12-09
A study of chimpanzees has revealed that dominant animals with higher testosterone levels tend to suffer from an increased burden of parasites. Researchers writing in BioMed Central's open access journal BioPsychoSocial Medicine observed the primates' behavior and studied their droppings to draw the link between dominance and infection status. Michael Muehlenbein from Indiana University and David Watts from Yale University, USA, carried out the study in 22 male animals at Kibale National Park, Uganda. According to Muehlenbein, "Acquisition and maintenance of high dominance ...

Scientists forecast new atom smashers to keep Europe leading in nuclear physics

2010-12-09
Brussels, 9 December 2010 - Europe needs new particle accelerators and major upgrades to existing facilities over the next ten years to stay at the forefront of nuclear physics, according to the European Science Foundation (ESF), which launches its 'Long Range Plan 2010' for nuclear physics today. Nuclear physicists are working to understand the origin, evolution and nature of matter that constitutes nearly 100 per cent of visible matter in the universe. As the home of GANIL, GSI, CERN and a wide network of closely collaborating facilities, Europe is world-leader in ...

Mutation linked to protein degradation underlies inherited ALS

2010-12-09
A new study identifies a previously unrecognized mutation that causes an inherited form of amyotrophic lateral sclerosis (ALS). The research, published by Cell Press in the December 9th issue of the journal Neuron, implicates defects in a cellular pathway linked with degradation of unwanted proteins in the underlying pathology of ALS and provides new insight into this incurable and fatal neurodegenerative disease. ALS, also known as Lou Gehrig's disease, is a devastating disease that causes destruction of the neurons in the brain and spinal cord that control voluntary ...

New mechanism links cellular stress and brain damage

2010-12-09
A new study uncovers a mechanism linking a specific type of cellular stress with brain damage similar to that associated with neurodegenerative disease. The research, published by Cell Press in the December 9 issue of the journal Neuron, is the first to highlight the significance of the reduction of a specific calcium signal that is directly tied to cell fate. Body cells are constantly exposed to various environmental stresses. Although cells possess some natural defenses, excessive stress can lead to a type of cell death called apoptosis. "It is thought that excessive ...

LAST 30 PRESS RELEASES:

New generation of Antibody-Drug Conjugates (ADCs) shows unprecedented promise in early-stage disease

Sylvester Cancer Tip Sheet for October 2025

Three science and technology leaders elected to Hertz Foundation Board of Directors

Jump Trading CSO Kevin Bowers elected to Hertz Foundation Board of Directors

Former Inscripta CEO Sri Kosaraju elected to Hertz Foundation Board of Directors

Citadel’s Jordan Chetty elected to Hertz Foundation Board of Directors

McGill research flags Montreal snow dump, inactive landfills as major methane polluters

A lightweight and rapid bidirectional search algorithm

Eighty-five years of big tree history available in one place for the first time

MIT invents human brain model with six major cell types to enable personalized disease research, drug discovery

Health and economic air quality co-benefits of stringent climate policies

How immune cells deliver their deadly cargo

How the brain becomes a better listener: How focus enhances sound processing

Processed fats found in margarines unlikely to affect heart health

Scientists discover how leukemia cells evade treatment

Sandra Shi MD, MPH, named 2025 STAT Wunderkind

Treating liver disease with microscopic nanoparticles

Chemicals might be hitching a ride on nanoplastics to enter your skin

Pregnant patients with preexisting high cholesterol may have elevated CV risk

UC stroke experts discuss current and future use of AI tools in research and treatment

The Southern Ocean’s low-salinity water locked away CO2 for decades, but...

OHSU researchers develop functional eggs from human skin cells

Most users cannot identify AI bias, even in training data

Hurricane outages: Analysis details the where, and who, of increased future power cuts

Craters on surface of melanoma cells found to serve as sites for tumor killing

Research Spotlight: Mapping overlooked challenges in stroke recovery

Geographic and temporal patterns of screening for breast, cervical, and colorectal cancer in the US

Cannabis laws and opioid use among commercially insured patients with cancer diagnoses

Research Spotlight: Surprising gene mutation in brain’s immune cells linked to increased Alzheimer’s risk

Missing molecule may explain Down syndrome

[Press-News.org] New test shows promise for accurate early diagnosis of Turner syndrome