Syndrome News and Research

RSS

Study sheds light on how extra chromosome 21 upsets equilibrium of entire genome in Down syndrome

Occurring in about one per eight hundred births, Down syndrome - or trisomy 21 - is the most frequent genetic cause of intellectual disability. It results from a chromosomal abnormality where cells of affected individuals contain a third copy of chromosome 21 (1% of the human genome).

18 Apr 2014

Study provides better understanding of intestinal pathologies associated with inherited, infectious diseases

The "brush border" - a densely packed array of finger-like projections called microvilli - covers the surfaces of the cells that line our intestines.

17 Apr 2014

Children with Tourette syndrome may unconsciously train brain to effectively control tics

Children with Tourette Syndrome (TS) may unconsciously train their brain to more effectively control their tics.

17 Apr 2014

New syndrome osteosarcopenic obesity links deterioration of bone density and muscle mass with obesity

Florida State University researchers have identified a new syndrome called "osteosarcopenic obesity" that links the deterioration of bone density and muscle mass with obesity.

17 Apr 2014

UTMB experts honored with Lifetime Achievement Award for contributions to study of deadly diseases

The global experts who study the deadliest infectious diseases recognized the contributions of Frederick A. Murphy and Thomas G. Ksiazek, professors at the University of Texas Medical Branch, with a Lifetime Achievement Award at the 6th annual International Symposium on Filoviruses. The filoviruses include Ebola and Marburg viruses that cause death in 50 to 90 percent of people infected. The current outbreak of Ebola virus raging in West Africa has caused more than 100 deaths so far.

16 Apr 2014

Research sheds new light onto possible causes of sudden infant death syndrome

Research at the University of Adelaide has shed new light onto the possible causes of sudden infant death syndrome (SIDS), which could help to prevent future loss of children's lives.

16 Apr 2014

Study sheds light on factors that lead to development of rare condition affecting inner ear

A new study has shed light on the factors likely to lead to the development of a rare condition affecting the inner ear.

16 Apr 2014

Sanofi Korea launches gut health product, Probi Digestis

Probi has signed a distribution and supply agreement with Sanofi. Following this the Consumer Healthcare division of Sanofi Korea is making a major launch of Probi´s gut health product, Probi Digestis starting in April 2014. Probi has already delivered products and received substantial orders for the coming quarters.

15 Apr 2014

NEPHRON+ project improves lives of kidney failure patients by developing wearable artificial kidney device

End stage kidney disease is a global public health problem with an estimated 2.4 million patients on dialysis. The number of new cases is rising (7-8% annually) due to population ageing and increased diabetes prevalence.

15 Apr 2014

Experts create new definition for epilepsy

An expert task force has created a new definition for epilepsy that refines the scope of patients diagnosed with this brain disease. The study published in Epilepsia, a journal published by Wiley on behalf of the International League Against Epilepsy, provides a greater level of detail to diagnose epilepsy by including individuals with two unprovoked seizures, and those with one unprovoked seizure and other factors that increase risk of seizure recurrence.

15 Apr 2014

AES released list of new fellowship awardees for organization's early-career awards

Today, the American Epilepsy Society (AES) released its list of new fellowship awardees, naming 15 recipients for the organization's early-career awards.

15 Apr 2014

Study evaluates co-occurrence of cancers in patients with central nervous system disorders

The study evaluated the co-occurrence of cancers in patients with central nervous system disorders, including Alzheimer's disease, amyotrophic lateral sclerosis, autism spectrum disorders, Down's syndrome, Huntington's disease, multiple sclerosis, Parkinson's disease and schizophrenia.

15 Apr 2014

Study confirms neurobiological origin of attention-deficit disorder

A study, carried out on mice, has just confirmed the neurobiological origin of attention-deficit disorder (ADD), a syndrome whose causes are poorly understood. Researchers from CNRS, the University of Strasbourg and INSERM1 have identified a cerebral structure, the superior colliculus, where hyperstimulation causes behavior modifications similar to those of some patients who suffer from ADD.

11 Apr 2014

Tissue reconstruction using autologous engineered implants has been successfully achieved in humans

Reconstruction of damaged/absent tissue using engineered autologous (from the patients’ own cells) implants has been successfully achieved in humans for the first time.

11 Apr 2014

Researchers discover tumor suppressor gene folliculin essential to normal lung function in BHD patients

11 Apr 2014

Scientists report first human recipients of laboratory-grown vaginal organs

Scientists reported today the first human recipients of laboratory-grown vaginal organs. A research team led by Anthony Atala, M.D., director of Wake Forest Baptist Medical Center's Institute for Regenerative Medicine, describes in the Lancet long-term success in four teenage girls who received vaginal organs that were engineered with their own cells.

11 Apr 2014

Longer looks: Vermont's single payer system; Nevada's cancer cluster; the toll of dementia on a family

Skatchewan is a vast prairie province in the middle of Canada. It's home to hockey great Gordie Howe and the world's first curling museum. But Canadians know it for another reason: it's the birthplace of the country's single-payer health-care system.

11 Apr 2014

Researchers discover mechanism that control normal lung function in patients with BHD syndrome

Researchers at Penn Medicine have discovered that the tumor suppressor gene folliculin (FLCN) is essential to normal lung function in patients with the rare disease Birt-Hogg-Dube (BHD) syndrome, a genetic disorder that affects the lungs, skin and kidneys. Folliculin's absence or mutated state has a cascading effect that leads to deteriorated lung integrity and an impairment of lung function, as reported in their findings in the current issue of Cell Reports.

11 Apr 2014

New drug for treating Rett syndrome is on the horizon

A powerful new drug which could relieve the symptoms of devastating childhood disease Rett syndrome is on the horizon thanks to a funding injection of -180,000.

10 Apr 2014

White matter linked with cognitive health

A multidisciplinary group of scientists from the Sanders-Brown Center on Aging at the University of Kentucky have identified an interesting connection between the health of the brain tissue that supports cognitive functioning and the presence of dementia in adults with Down syndrome.

9 Apr 2014

Syndrome News and Research

Study sheds light on how extra chromosome 21 upsets equilibrium of entire genome in Down syndrome

Study provides better understanding of intestinal pathologies associated with inherited, infectious diseases

Children with Tourette syndrome may unconsciously train brain to effectively control tics

New syndrome osteosarcopenic obesity links deterioration of bone density and muscle mass with obesity

UTMB experts honored with Lifetime Achievement Award for contributions to study of deadly diseases

Research sheds new light onto possible causes of sudden infant death syndrome

Study sheds light on factors that lead to development of rare condition affecting inner ear

Sanofi Korea launches gut health product, Probi Digestis

NEPHRON+ project improves lives of kidney failure patients by developing wearable artificial kidney device

Experts create new definition for epilepsy

AES released list of new fellowship awardees for organization's early-career awards

Study evaluates co-occurrence of cancers in patients with central nervous system disorders

Study confirms neurobiological origin of attention-deficit disorder

Tissue reconstruction using autologous engineered implants has been successfully achieved in humans

Researchers discover tumor suppressor gene folliculin essential to normal lung function in BHD patients

Scientists report first human recipients of laboratory-grown vaginal organs

Longer looks: Vermont's single payer system; Nevada's cancer cluster; the toll of dementia on a family

Researchers discover mechanism that control normal lung function in patients with BHD syndrome

New drug for treating Rett syndrome is on the horizon

White matter linked with cognitive health

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Latest News