Current Rett Syndrome News and Events | Page 25

Current Rett Syndrome News and Events, Rett Syndrome News Articles.
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Study shows feasibility of using gene therapy to treat rare immunodeficiency syndrome
In a small study that included seven children and teens with Wiskott-Aldrich syndrome, a rare immunodeficiency disorder, use of gene therapy resulted in clinical improvement in infectious complications, severe eczema, and symptoms of autoimmunity, according to a study in the April 21 issue of JAMA, a theme issue on child health. (2015-04-21)

Living life in the third person
Imagine living a healthy, normal life without the ability to re-experience in your mind personal events from your past. You have learned details about past episodes from your life and can recite these to family and friends, but you can't mentally travel back in time to imagine yourself in any of them. Cognitive scientists had a rare opportunity to examine three middle-aged adults who essentially live their lives in the 'third person.' (2015-04-20)

Childhood syndrome combining lung disease, arthritis is identified
Using the latest genome sequencing techniques, a research team led by scientists from UC San Francisco, Baylor College of Medicine, and Texas Children's Hospital has identified a new autoimmune syndrome characterized by a combination of severe lung disease and arthritis that currently has no therapy. (2015-04-20)

Study re-examines sports restrictions for children with heart rhythm disorder
Sports participation may be safer than previously thought for children with the heart rhythm disorder long QT syndrome, and authors of a new study in JACC: Clinical Electrophysiology say restrictions should be eased to allow appropriately treated children with the condition to participate more in recreational and competitive sports. (2015-04-20)

Cardiorespiratory fitness reduces disease risk among smokers
Cardiorespiratory fitness is associated with reduced metabolic syndrome risk among smokers, according to researchers from the University of Texas Health Science Center at Houston School of Public Health. (2015-04-16)

Brain imaging changes in individuals with Down's may help advance Alzheimer's trials
Researchers have characterized three brain imaging changes in individuals with Down's, who are at very high risk for development of Alzheimer's, even before onset of progressive memory and thinking problems. Their findings could help set the stage to evaluate promising treatments to slow down or prevent onset of Alzheimer's symptoms in these individuals. Scientists have also identified the approximate age -- about 35 to 40 -- at which Alzheimer's-associated brain imaging changes occur in the Down's population. (2015-04-14)

Medical marijuana liquid extract may bring hope for children with severe epilepsy
A medicinal liquid form of marijuana may show promise as a treatment for children with severe epilepsy that is not responding to other treatments, according to a study released today that will be presented at the American Academy of Neurology's 67th Annual Meeting in Washington, D.C., April 18-25, 2015. (2015-04-13)

Mystery of Rett timing explained in MeCP2 binding
Scientists have puzzled over the fact that infants with the postnatal neurodevelopmental disorder Rett syndrome show symptoms of the disorder from one to two years after birth. Dr. Huda Zoghbi and her colleagues from Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, unravel the mystery by looking at when and how the causal gene involved binds to methylated cytosine over the course of brain development. (2015-04-13)

Researchers define role of Tmem231 in maintaining ciliary function
Researchers reveal how a protein linked to Meckel syndrome and other human diseases regulates the membrane composition of cilia, finger-like projections on the surface of cells that communicate signals. (2015-04-13)

Babies exposed to narcotic pain relievers more likely to experience withdrawal
Neonatal abstinence syndrome, a drug withdrawal syndrome in infants following birth, has historically been associated with illicit drug use among pregnant women. (2015-04-13)

Bacteria inhibit bat-killing fungus, could combat white-nose syndrome
Bacteria found naturally on some bats may prove useful in controlling the deadly fungal disease known as white-nose syndrome, which has devastated bat populations throughout eastern North America and continues to spread across the continent. Scientists at UC Santa Cruz isolated bacteria that strongly inhibited the growth of the white-nose syndrome fungus in laboratory tests. (2015-04-08)

Symposium addresses latest thinking on obesity
The 15th Plymouth Obesity, Diabetes and Metabolic Syndrome Symposium will take place at Plymouth Postgraduate Medical Centre on May 21 . Entitled 'New Ideas and Controversies in Obesity,' the event will bring together a stellar panel of experts from research institutions and the NHS across the UK. (2015-04-02)

Blood test trumps accuracy of standard screening in detecting Down syndrome in early pregnancy
A blood test undertaken between 10 to 14 weeks of pregnancy may be more effective in diagnosing Down syndrome and two other less common chromosomal abnormalities than standard non-invasive screening techniques, according to a multicenter study led by a UCSF researcher. (2015-04-01)

Study: Increased dietary magnesium intake associated with improved diabetes-related health outcomes
A recent analysis published in the Journal of Human Nutrition & Food Science reveals a beneficial relationship between dietary magnesium intake and diabetes-related outcomes including decreased risk for metabolic syndrome, obesity or overweight, elevated blood pressure, and reduced HDL (good) cholesterol. (2015-03-30)

WSU researchers find 'exploding head syndrome' more common in young people than thought
Washington State University researchers have found that an unexpectedly high percentage of young people experience 'exploding head syndrome,' a psychological phenomenon in which they are awakened by abrupt loud noises, even the sensation of an explosion in their head. (2015-03-30)

Risk factors associated with overweight cluster already in children
Lifestyle-related cardiometabolic risk factors cluster already in children in the same way as in adults, according to research from the University of Eastern Finland. A cardiometabolic risk score was used to evaluate cardiometabolic risk in different age groups. The results show that risk factor levels even lower than those generally accepted as risk factor thresholds for type 2 diabetes and atherosclerotic vascular disease are harmful when several risk factors cluster. (2015-03-25)

Study shows association between migraine and carpal tunnel syndrome, reports PRS Global Open
Patients with carpal tunnel syndrome are more than twice as likely to have migraine headaches, reports a study in Plastic and Reconstructive Surgery -- Global Open, the official open-access medical journal of the American Society of Plastic Surgeons. (2015-03-23)

Several breeds of dog in England killed by mysterious kidney disease
At least 30 dogs in England have been killed in less than 18 months by an unknown disease which causes skin lesions and kidney failure, reveals research published in Veterinary Record. (2015-03-23)

Rett Syndrome Research Trust awards $1.3 million for clinical trial
A surgical sedative may hold the key to reversing the devastating symptoms of a neurodevelopmental disorder found almost exclusively in females. Ketamine, used primarily for operative procedures, has shown such promise in mouse models that Case Western Reserve and Cleveland Clinic researchers soon will launch a two-year clinical trial using low doses of the medication in up to 35 individuals with Rett Syndrome. (2015-03-23)

Study shows why exercise magnifies exhaustion for chronic fatigue syndrome patients
The mechanism that causes high-performance athletes to 'feel the burn' turns out to be the culprit in what makes people with chronic fatigue syndrome feel exhausted by the most common daily activities, new University of Florida Health research shows. (2015-03-12)

Germline TP53 mutations in patients with early-onset colorectal cancer
In a group of patients diagnosed with colorectal cancer at 40 or younger, 1.3 percent of the patients carried germline TP53 gene mutations, although none of the patients met the clinical criteria for an inherited cancer syndrome associated with higher lifetime risks of multiple cancers, according to a study published online by JAMA Oncology. (2015-03-12)

Length matters
Mutations in the MECP2 gene are the cause of the devastating childhood neurological disorder Rett Syndrome. Despite intense efforts spanning several decades the precise function of MECP2 has been difficult to pin down. Research primarily funded by the Rett Syndrome Research Trust and NINDS, and published today in Nature reveals important information that could lead to new treatment approaches. The study, led by Michael Greenberg, Ph.D., Chairman of the Department of Neurobiology at Harvard University, shows that MECP2 dampens the expression of long genes. (2015-03-11)

Mood, anxiety disorders common in Tourette patients, emerge at a young age
A new study of Tourette syndrome led by researchers from UC San Francisco and Massachusetts General Hospital has found that nearly 86 percent of patients who seek treatment for TS will be diagnosed with a second psychiatric disorder during their lifetimes, and that nearly 58 percent will receive two or more such diagnoses. (2015-03-09)

Mutation in APC2 gene causes Sotos features
Sotos syndrome is a congenital syndrome that is characterized by varying degrees of mental retardation and a large head circumference etc. It is known that 90 percent of Sotos syndrome patients have mutations in the NSD1 gene. This time, an international research group has revealed that mutation in the APC2 gene causes symptoms of Sotos syndrome related to the nervous system, from analyses of the Apc2-knockout mouse. (2015-03-05)

New genetic syndrome found, tied to errors in 'master switch' during early development
Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, named CHOPS syndrome, and may offer clues to eventually treating it. (2015-03-02)

Heart's inner mechanisms to be studied with NIH grant
Jianmin Cui, Ph.D., has received a nearly $1.7 million grant from the National Institutes of Health to study the molecular bases for the function of potassium channels vital for the heart, brain, inner ear and other tissues. (2015-02-25)

Widely used food additive promotes colitis, obesity and metabolic syndrome, research shows
Emulsifiers, which are added to most processed foods to aid texture and extend shelf life, can alter the gut microbiota composition and localization to induce intestinal inflammation that promotes the development of inflammatory bowel disease and metabolic syndrome, new research shows. (2015-02-25)

Unusual disease that causes acute confusion may be underdiagnosed
An unusual disease called Susac syndrome, which can cause acute confusion and problems with hearing and eyesight, is rare but probably under reported, Loyola University Medical Center physicians report in the Journal of Stroke and Cerebrovascular Diseases. (2015-02-25)

23andMe authorized by FDA to market first direct-to-consumer genetic test
23andMe has been granted authority by the US Food and Drug Administration (FDA) to market the first direct-to-consumer genetic test under a regulatory classification for novel devices. (2015-02-19)

Growth hormone improves social impairments in those with autism-linked disorder
A growth hormone can significantly improve the social impairment associated with autism spectrum disorder in patients with a related genetic syndrome. (2015-02-19)

Dresden researchers manage transplantation of adrenal cells encapsulated in a bioreactor
If the function of the adrenal gland is disturbed it does not produce enough stress-adjusting messengers. The results are serious and cause life-threatening diseases. Under the direction of professor Dr. Stefan R. Bornstein of the university hospital Carl Gustav Carus researchers developed an artificial adrenal system together with the medicine Nobel Prize Laureate Dr. Andrew Schally in an animal model. (2015-02-18)

UH team works to help patients with Down syndrome see better
New computer-simulated prescribing strategies for glasses may improve the vision of individuals with Down syndrome, thanks to a team of University of Houston College of Optometry researchers who received a $1.67 million grant from the National Eye Institute. (2015-02-11)

Chronic fatigue syndrome -- What's in a name?
A new report in Annals of Internal Medicine from the Institute of Medicine presents new diagnostic criteria for chronic fatigue syndrome and examines whether a new name for the condition is warranted. (2015-02-10)

Circadian clock-Angelman syndrome link established
Vanderbilt biologists have found a direct link between the biological clock and Angelman syndrome, a neurogenetic disorder that occurs in more than one in every 15,000 live births. The link may provide a valuable way to judge the effectiveness of the first experimental drugs under development for treating the syndrome. (2015-02-05)

NIH researchers describe spontaneous cure of rare immune disease
A genetic phenomenon called chromothripsis, or 'chromosome shattering,' may have spontaneously cured the first person to be documented with WHIM syndrome, according to researchers at the National Institutes of Health. The patient was the subject of a 1964 study that first described the disorder, a syndrome of recurrent infections, warts and cancer caused by the inability of immune cells, particularly infection-fighting neutrophils, to leave the bone marrow and enter the bloodstream. (2015-02-05)

Study finds link between early menopause and CFS
A newfound link between chronic fatigue syndrome (CFS) and early menopause was reported online today in Menopause, the journal of the North American Menopause Society. This link, as well as links with other gynecologic problems and with pelvic pain, may help explain why CFS is two to four times more common in women than in men and is most prevalent in women in their 40s. (2015-02-04)

Study sheds new light on aggressive cancer in children
A new study involving researchers at The University of Nottingham has revealed how children with an aggressive cancer predisposition syndrome experience a never before seen flood of mutations in their disease in just six months. (2015-02-03)

Laying a foundation for treating ALS, spinal cord injury
Su-Chun Zhang, a professor of neuroscience and neurology at the University of Wisconsin-Madison Waisman Center, and his research team have published a unique model for learning more about the role of human astrocytes in the Journal of Clinical Investigation today. The findings may lay a foundation for the treatment of a number of neurodegenerative diseases, including ALS (amyotrophic lateral sclerosis) and debilitating spinal cord injuries. (2015-02-02)

Non-invasive first trimester blood test reliably detects Down's syndrome
Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), (2015-02-02)

Pregnancy associated hypertension associated with an increased frequency of subsequent hypertension and metabolic syndrome
In a study to be presented on Feb. 5 in an oral concurrent session at 2:45 p.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, in San Diego, researchers of the MFMU Network will present findings of long term cardiovascular and metabolic abnormalities five to ten years later in women with preeclampsia/gestational hypertension during pregnancy. (2015-02-01)

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