Syndrome in Biological News

Scientists tackle the mystery of white-nose syndrome in bats

KNOXVILLE -- The mysterious disease that has killed more than 90 percent of wintering bats in some caves and mines from Vermont to Virginia during the last three years has raised numerous questions about the nature of the disease and how to control it. Leading experts in the fields of bat physi...

Research suggests vegetable juice may help people with metabolic syndrome lose weight

NEW ORLEANS, April 19, 2009 Drinking at least one glass of low sodium vegetable juice daily may help overweight people with metabolic syndrome achieve better weight loss results. A study, conducted at the Baylor College of Medicine and presented at this week's Experimental Biology Meeting, found...

Fetal alcohol syndrome testing expands

Kingston, ON Improved technology, partnerships and collaboration across two provinces have allowed Queen's University scientists to dramatically expand the use of eye-movement tests that help identify and assess children with Fetal Alcohol Spectrum Disorder (FASD). "Our initial study was carri...

Rett Syndrome Research Trust advisor makes significant discovery

A paper published online today in Nature Neuroscience reveals the presence of methyl CpG binding protein 2 (MeCP2) in glia. MeCP2 is a protein associated with a variety of neurological disorders, including Rett Syndrome, the most physically disabling of the autism spectrum disorders. The researc...

Mayo Clinic researchers suspect a novel gene is causing restless legs syndrome in a large family

JACKSONVILLE, Fla. In 2005, a woman who had trouble sleeping asked Siong-Chi Lin, M.D., for help. Dr. Lin, a sleep disorders specialist at the Mayo Clinic campus in Florida, diagnosed restless legs syndrome. This common neurologic disorder interrupts sleep because of unpleasant sensations in the...

Irritable bowel syndrome can have genetic causes

Irritations of the bowel can have genetic causes. Researchers at the Institute of Human Genetics at Heidelberg University Hospital have discovered this correlation. The causes of what is known as irritable bowel syndrome (IBS), one of the most common disorders of the gastrointestinal tract, are co...

The Rett Syndrome Research Trust launches operations

The Rett Syndrome Research Trust, a newly established nonprofit organization, is pleased to announce the launch of our operations and website (www.rsrt.org). In the wake of last year's dramatic pre-clinical reversal of Rett symptoms, the Trust has been formed to pursue the next steps toward treat...

70 years old and going strong with Down syndrome and no dementia

Washington, DC (August 18, 2008) In the world of Down syndrome, 'Mr. C' is a rarity. A real person whose progress has been tracked for the past 16 years, at seventy, 'Mr. C' has well surpassed the average life expectancy of a person with Down syndrome, currently in the late fifties, but in the te...

Bisphenol A linked to metabolic syndrome in human tissue

CINCINNATINew research from the University of Cincinnati (UC) implicates the primary chemical used to produce hard plasticsbisphenol A (BPA)as a risk factor for metabolic syndrome and its consequences. In a laboratory study, using fresh human fat tissues, the UC team found that BPA suppresses a...

Model for angelman syndrome developed by University of Texas at Austin biologists

AUSTIN, TexasA model for studying the genetics of Angelman syndrome, a neurological disorder that causes mental retardation and other symptoms in one out of 15,000 births, has been developed by biologists at The University of Texas at Austin. Their research demonstrates that when a particular f...

Researcher helping to pioneer medical therapy for Fragile X Syndrome presents latest findings

(CHICAGO) Neurological experts from across the U.S. and other countries including a nationally renowned researcher from Rush University Medical Center will discuss the latest findings in basic and clinical research for Fragile X at the 11th International Fragile X Conference, to be held July 23-2...

Rare cancer-causing syndrome found, for the first time, in Singapore

SINGAPORE -- A rare hereditary disorder that strongly predisposes carriers to develop cancer at an early age has been found in an Asian female, report researchers today at the American Association for Cancer Research Centennial Conference on Translational Cancer Medicine. Generally, a person sh...

Restless legs syndrome affects nearly 2 percent of US/UK children

Restless legs syndrome is a common problem in children 8 years of age and older in the United States and the United Kingdom, according to a new report from an international team of researchers. Nearly 2 percent of children aged 8 to 17 are affected, and a significant proportion of those experie...

Scientists link fragile X tremor/ataxia syndrome to binding protein in RNA

Scientists have discovered a key protein in the toxic brain pathway that leads to fragile X tremor/ataxia syndrome (FXTAS), an inherited neurodegenerative disorder. The finding, in a Drosophila (fly) model of FXTAS, could help unravel the complex mechanisms of FXTAS and lead scientists to develop...

Rampant helper syndrome

The Archaea are single-celled organisms and a domain unto themselves, quite apart from the so called eukaryotes, being bacteria and higher organisms. Many species live under extreme conditions, and carry out unique biochemical processes shared neither with bacteria nor with eukaryotes. Methanogeni...

Scientists unravel the mystery of white-nose syndrome

KNOXVILLE -- The mysterious disease that has killed more than 90 percent of wintering bats in some caves and mines from Vermont to Virginia during the last three years has raised numerous questions about the nature of the disease and how to control it. Leading experts in the fields of bat physi...

Drinking 100 percent fruit juice is associated with lower risk of obesity and metabolic syndrome

New Orleans (April 22, 2009) If you enjoy a glass of 100% juice as part of your daily routine, chances are you also have fewer risk factors for several chronic diseases when compared to your non juice-drinking peers. New research presented today at the Experimental Biology (EB) 2009 meeting highl...

New potential therapeutic target discovered for genetic disorder -- Barth syndrome

Researchers at NYU Langone Medical Center may have discovered a new targeted intervention for Barth Syndrome (BTHS). BTHS, a sometimes fatal disease, is a serious genetic disorder occurring predominantly in males that leads to infection or heart failure in childhood. The new study entitled, "Role ...

2 genes influence social behavior, visual-spatial performance in people with Williams syndrome

SALT LAKE CITYUnraveling the genetics of social behavior and cognitive abilities, researchers at the University of Utah and the Salk Institute for Biological Studies have traced the role of two genes,GTF2I and GTF2IRD, in a rare genetic disorder known as Williams Syndrome. Their results, publi...

Athletes not spared from health risks of metabolic syndrome

COLUMBUS, Ohio College-age football players who gain weight to add power to their blocks and tackles might also be setting themselves up for diabetes and heart disease later in life, a new study suggests. Nearly half of a sample of collegiate offensive and defensive linemen who underwent a bat...

Promising new drug being evaluated as possible treatment option for fragile X syndrome

(Chicago) A pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome (FXS). Findings of the open label, single-dose study by researchers at Rush University Medical Center and th...

Newly-discovered mechanism can explain the Beckwith-Wiedemann syndrome

Researchers from Uppsala University have discovered a mechanism that silences several genes in a chromosome domain. The findings, published in today's on-line issue of Molecular Cell , have implications in understanding the human disorder Beckwith-Wiedemann syndrome. In mammals the cells conta...

New blood test for Down syndrome

Howard Hughes Medical Institute researchers have developed a new prenatal blood test that accurately detected Down syndrome and two other serious chromosomal defects in a small study of 18 pregnant women. If confirmed in larger trials, they say, the test would offer a safer and faster alternative ...

UCR researchers propose minocycline as a promising drug for patients with Fragile X syndrome

RIVERSIDE, Calif. A UC Riverside-led team of biomedical scientists has found that a readily available drug called minocycline, used widely to treat acne and skin infections, can be used to treat Fragile X syndrome , the most common inherited cause of mental impairment and the most common cause o...

UC Davis researchers define characteristics, treatment options for XXYY syndrome

(SACRAMENTO, Calif.) Researchers at the UC Davis M.I.N.D. Institute and The Children's Hospital in Denver have conducted the largest study to date describing the medical and psychological characteristics of a rare genetic disorder in which males have two "X" and two "Y" chromosomes, rather than t...

The aorta is torn apart in the Marfan syndrome

A severe complication of the Marfan syndrome is that the aorta may split and be torn apart. The patient can be protected if the syndrome is diagnosed and treated in good time. In the current edition of the Deutsches rzteblatt International (Dtsch Arztebl Int 2008; 105[27]: 483-91), the human gen...

Researchers discover gene for branchio-oculo-facial syndrome

Boston, MA--In a collaborative effort, researchers from Boston University School of Medicine (BUSM) have discovered that deletions or mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS). This rare...

Study suggests new way to screen infants for fetal alcohol syndrome

Cincinnati, OH, March 5, 2008 Children who have been diagnosed with Fetal Alcohol Syndrome (FAS) are more likely to have serious psychiatric and behavioral problems later in life, including a higher risk for dropping out of school, unemployment, and criminal behavior. Studies have shown that ear...

Effective ADHD treatment found for children with fragile X syndrome

Fragile X syndrome (FXS) is the most common hereditary form of mental retardation. Many children with FXS also suffer from attention deficit and/or hyperactivity disorder (ADHD), which complicates social relationships at home and at school. Although stimulant medication such as Ritalin is often su...

Obesity-related hormone is higher in children with Down syndrome

Children with Down syndrome are more likely than their unaffected siblings to have higher levels of a hormone associated with obesity, according to pediatric researchers. The hormone, leptin, may contribute to the known higher risk of obesity among children and adults with Down syndrome. A rese...

Researchers identify proteins involved in new neurodegenerative syndrome

The interplay of two proteins that bind to messenger RNA, a molecule that mediates translation of the information encoded in genes into proteins, triggers the appearance of fragile X-associated tremor/ataxia syndrome (FTAX), a late-life disorder associated with the gene that causes fragile X syndr...

Chronic fatigue syndrome impairs a person's slow wave activity during sleep

Chronic fatigue syndrome (CFS) has been associated with altered amounts of slow wave sleep, which could reflect reduced electroencephalograph (EEG) activity and impaired sleep regulation. A study published in the May 1st issue of the journal SLEEP finds that CFS is also associated with a blunted s...

Angelman syndrome deficits rescued in mice

Children with Angelman syndrome are often seen laughing and smiling, but this cheerful demeanor masks serious neurological problems ?mental retardation, movement problems and seizures. ew research in mice, however, suggests that many of these deficits could be alleviated. Edwin Weeber, Ph...

Drug treatment improves learning in mice with Down syndrome symptoms, Stanford/Packard study shows

A once-a-day, short-term treatment with a drug compound substantially improved learning and memory in mice with Down syndrome symptoms, say researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital. What’s more, the gains lasted for months after the treatment ...

Congenital rubella syndrome nearly eradicated in the US

Congenital rubella syndrome, a birth defect caused by the rubella virus (also known as German measles), has practically been eliminated in the U.S., according to a statement published in the April 2006 issue of Birth Defects Research Part A, the official journal of The Teratology Society. The journ...

Maternal, paternal genes' tug-of-war may last well into childhood

...aternal genes -- Silver-Russell syndrome, Prader-Willi syndrome, and Temple syndrome -- place fewer demands on their mothers' resources. For example, newbor...ll syndrome, Prader-Willi syndrome, Temple syndrome, and Beckwith-Wiedemann syndrome is needed to more fully understand the role of genomic imprinting in such d...

Sticky protein helps reinforce fragile muscle membranes

...ies that are caused by abnormal dystroglycan." These congenital muscular dystrophies include Fukuyama Congenital Muscular Dystrophy, Walker-Warburg syndrome and Muscle-Eye-Brain disease and limb-girdle muscular dystrophy 2I. In these so-called dystroglycanopathies, too few sugar groups are added to alpha d...

Chromosomal problems affect nearly all human embryos

...this case an X-linked disorder or the microdeletions (loss of a tiny piece of a chromosome) that can cause such disorders as the cancer predisposition syndrome neurofibromatosis type 1. The embryos are screened to avoid the implantation of one carrying that abnormality. Such embryos are the most representativ...

Measuring intellectual disability

...e Journal of Molecular Diagnostics . Fragile X syndrome is the most common form of inherited intellectual ...rly one third of patients diagnosed with fragile X syndrome also have some degree of autism, and the mutation underlying fragile X syndrome is the most commonly known single gene cause of au...

NIH expands Human Microbiome Project; funds sequencing centers and disease projects

...or College of Medicine, Houston Digestive tract: Pediatric Irritable Bowel syndrome (IBS) $750,000 This project will examine the composition of the intestinal microbiome and any possible connections with irritable bowel syndrome in children. Gary D. Wu, M.D., University of Pennsylvania School of Me...