This lag before diagnosis of the condition can delay the start of growth hormone therapy, which can help in achieving normal or near-normal adult stature. Yale School of Medicine researchers are aiming to close this lag time with a new inexpensive, accurate and practical diagnostic test for Turner syndrome that can be done in a doctor's office.
Their research is published online and in an upcoming March 2011 print issue of The Endocrine Society's Journal of Clinical Endocrinology & Metabolism.
"We've developed a practical test that can be used to test large numbers of girls, and is much quicker and less expensive than the current method called cytogenetic analysis by karyotype," said the study's lead author Scott Rivkees, M.D., professor of pediatrics at Yale School of Medicine. "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."
Turner syndrome occurs when an X-chromosome is completely or partially deleted. The syndrome affects one in 1,500 to 2,000 females. Untreated girls with TS achieve an average height of 4 feet, 8 inches.
Rivkees and his co-authors developed the test based on a quantitative method of genotyping to detect X-chromosome abnormalities. The test was developed and validated from DNA samples from more than 500 individuals. Of 90 clinically confirmed TS individuals tested, the assay correctly identified 87.
"Because of the small amount of DNA needed for the test, sample DNA can be extracted from cheek swabs, or from newborn screening blood spots that are routinely collected," Rivkees said. "If broadly used in the clinical setting at young ages, this test can prevent the delayed recognition of TS."
A U.S. patent was recently issued to Yale University for "DNA Diagnostic Screening for Turner Syndrome and Sex Chromosome Disorders."
Other Yale authors on the study include Anastasia Wise, Peining Li, Henry Rinder and Jeffrey Gruen. Karl Hager and Seiyu Hosono of JS Genetics in New Haven were also co-authors.
Karen N. Peart | EurekAlert!
Resolving the mystery of preeclampsia
21.10.2016 | Universitätsklinikum Magdeburg
New potential cancer treatment using microwaves to target deep tumors
12.10.2016 | University of Texas at Arlington
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...
By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.
"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...
COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.
In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...
'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.
Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...
14.10.2016 | Event News
14.10.2016 | Event News
12.10.2016 | Event News
21.10.2016 | Health and Medicine
21.10.2016 | Information Technology
21.10.2016 | Materials Sciences