Popular Rett Syndrome News and Current Events

Popular Rett Syndrome News and Current Events, Rett Syndrome News Articles.
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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)

How reducing body temperature could help a tenth of all ICU patients
ROCKVILLE, MD - A tenth of all intensive care unit patients worldwide, and many critical patients with COVID-19, have acute respiratory distress syndrome (ARDS). (2021-02-23)

Obesity and health problems: New research on a safeguard mechanism
Obesity and health problems: Researchers at Maisonneuve-Rosemont Hospital in Montreal shed light on a safeguard mechanism. (2018-03-16)

Smoking in patients with heart attack reduced with varenicline
In patients who have had a heart attack, the drug varenicline significantly reduced smoking during the following year, found a randomized controlled trial published in CMAJ (Canadian Medical Association Journal). (2018-03-26)

X chromosome reactivation could treat Rett syndrome, other X-linked disorders
A study from a team of Massachusetts General Hospital investigators points toward a potential strategy for treating X-linked disorders -- those caused by mutations in the X chromosome -- in females. (2018-01-04)

Family impact of congenital Zika syndrome likely to last a lifetime
The impact of congenital Zika syndrome on families will be substantial and will last a lifetime, given its severity and uncertainty about long-term outcomes for infants. (2018-02-01)

Researchers reverse heart failure in Marfan mice
In experiments with mice that have a rodent form of Marfan syndrome, Johns Hopkins researchers report that even modestly increasing stress on the animals' hearts -- at levels well-tolerated in normal mice -- can initiate heart failure. The findings, described August 4 in the Journal of Clinical Investigation Insight, revealed a novel cellular pathway in heart tissue that leads to heart failure and may serve as a model for a new standard of treatment for children with this aggressive form of Marfan syndrome. (2017-11-14)

Zooming into cilia sheds light into blinding diseases
A new study reveals an unprecedented close-up view of cilia linked to blindness. (2019-11-05)

Mutations in bone cells can drive leukemia in neighboring stem cells
DNA mutations in bone cells that support blood development can drive leukemia formation in nearby blood stem cells. This neighbor cell effect was observed in a mouse model of Noonan syndrome. In mice, drugs can stop the effect and potentially could combat leukemia progression/recurrence. (2016-10-26)

The cost of opioid use during pregnancy
A new study published today by the scientific journal Addiction reveals that the incidence of neonatal abstinence syndrome -- often caused by mothers using opioids during pregnancy -- is increasing in the United States, and carries an enormous burden in terms of hospital days and costs. The number of US hospital admissions involving neonatal abstinence syndrome increased more than fourfold between the years 2003 and 2012. In 2012, neonatal abstinence syndrome cost nearly $316 million in the United States. (2017-06-14)

Sensory stimuli control dopamine in the brain
Type and intensity of stimuli control the activity of nerve cells that release the neurotransmitter dopamine. (2017-01-13)

Study finds childhood fitness reduces long-term cardiovascular risks of childhood obesity
Aerobic exercise might be a potentially effective tool to reduce the long-term health risks of childhood obesity. (2016-05-24)

Obese men may have higher chance of recurrence following radical prostatectomy
Among men with prostate cancer who underwent radical prostatectomy (RP), those who were obese had a higher risk of biochemical recurrence, according to data presented at the American Association for Cancer Research Special Conference Obesity and Cancer: Mechanisms Underlying Etiology and Outcomes, held Jan. 27-30. (2018-01-26)

New coronavirus emerges from bats in China, devastates young swine
A newly identified coronavirus that killed nearly 25,000 piglets in 2016-17 in China emerged from horseshoe bats near the origin of the severe acute respiratory syndrome coronavirus (SARS-CoV), which emerged in 2002 in the same bat species. The new virus, called swine acute diarrhea syndrome coronavirus (SADS-CoV), doesn't appear to infect people, unlike SARS-CoV. The NIAID-funded work was a collaboration among scientists from EcoHealth Alliance, Duke-NUS Medical School, Wuhan Institute of Virology and other organizations. (2018-04-04)

Researchers find link between breast cancer and two gene mutations
Individuals with Lynch syndrome, a genetic condition that has long been known to carry dramatically increased risk of colorectal cancer and uterine cancer, now also have an increased risk of breast cancer. This is the conclusion of a study in the journal Genetics in Medicine which is published by Springer Nature. (2018-01-19)

The Down's syndrome 'super genome'
Only 20 percent of foetuses with trisomy 21 reach full term. But how do they manage to survive the first trimester of pregnancy despite this heavy handicap? Researchers from UNIGE and UNIL have found that children born with Down's syndrome have an excellent genome - better than the average genome of people without the genetic abnormality. It is possible that this genome offsets the disabilities caused by the extra chromosome, helping the foetus to survive. (2018-01-19)

Huntington's Disease Mouse Model To Be Distributed By Jackson Laboratory
The first strain of mouse genetically engineered to model major symptoms of Huntington's disease -- an inherited, degenerative brain disease that affects an estimated 30,000 Americans -- is now undergoing processing at The Jackson Laboratory for distribution to researchers worldwide (1997-04-02)

Exploring 'clinical conundrum' of asthma-COPD overlap in nonsmokers with chronic asthma
Researchers may be closer to finding the mechanism responsible for loss of lung elastic recoil and airflow limitation in nonsmokers with chronic asthma. The study published today in the journal CHEST Unraveling the Pathophysiology of the Asthma-COPD Overlap Syndrome reported that both nonsmokers and smokers with chronic asthma share features of COPD. This conundrum, often referred to as asthma-COPD overlap syndrome, has been assumed to be due to large and especially small airway remodeling. (2015-08-05)

A brain mechanism underlying 'vision' in the blind is revealed
Researchers observed slow spontaneous fluctuations in the brain's visual centers that preceded visual hallucinations in blind people. (2021-01-07)

Could handheld electronic devices contribute to carpal tunnel syndrome?
In a study of 48 university students, intensive users of electronic devices reported more wrist/hand pain than non-intensive users. (2017-06-21)

UPV/EHU researchers account for the complex symptoms of Angelman syndrome
A research group at the Faculty of Science and Technology of the UPV/EHU-University of the Basque Country has managed to reliably identify the changes in the proteins altered by the UBE3A enzyme, responsible for Angelman syndrome. This disease causes problems in intellectual and motor development, epilepsy, difficulties in communication, and very few hours of sleep. Funding provided by the Angelman Syndrome Association has been a key factor in being able to complete the research. (2018-04-19)

Endocannabinoid system, a target to improve cognitive disorders in models of Down syndrome
A study by the Neuropharmacology Laboratory-NeuroPhar of the Department of Experimental and Health Sciences (DCEXS) at UPF reveals the involvement of the endocannabinoid system in cognitive disorders in mouse models of Down syndrome. The work, led by Andrés Ozaita and Rafael Maldonado, which has been published in the journal Neurobiology of Disease, also identifies cannabinoid receptor type-1 (CB1) as a potential treatment target. (2019-02-06)

For the first time in humans, Zika syndrome susceptibility linked to genetic background
About 6 percent to 12 percent of the babies born from mothers infected with the Zika virus during pregnancy will have the CZS. (2018-02-02)

Air pollution linked to irregular menstrual cycles
The air your teenage daughter breathes may be causing irregular menstrual cycles. Well documented negative health effects from air pollution exposure include infertility, metabolic syndrome and polycystic ovary syndrome. This study is the first to show that exposure to air pollution among teen girls (ages 14-18) is associated with slightly increased chances of menstrual irregularity and longer time to achieve such regularity in high school and early adulthood. (2018-01-25)

Zika-related nerve damage caused by immune response to the virus
The immune system's response to the Zika virus, rather than the virus itself, may be responsible for nerve-related complications of infection, according to a Yale study. This insight could lead to new ways of treating patients with Zika-related complications, such as Guillain-Barré syndrome, the researchers said. (2017-11-20)

Chronic fatigue syndrome linked to stomach virus
Chronic fatigue syndrome, also known as ME, is linked to a stomach virus, suggests research published ahead of print in Journal of Clinical Pathology. The researchers base their findings on 165 patients with ME, all of whom were subjected to endoscopy because of longstanding gut complaints. (2007-09-13)

Accumulated bits of a cell's own DNA can trigger autoimmune disease
A security system wired within every cell to detect the presence of rogue viral DNA can sometimes go awry, triggering an autoimmune response to single-stranded bits of the cell's own DNA. (2008-08-21)

Researchers examine how opioids affect proteins in the brain other than opioid receptors
In a new study, researchers have characterized the effects of a series of opioids on proteins in the brain other than opioid receptors. (2017-12-06)

Current screening test for prediabetes in children misses the diagnosis too often
Obese children, who are at increased risk for prediabetes and type 2 diabetes, may not be getting the most appropriate test to screen for these conditions, a new Canadian study found. Results were presented Sunday, June 15, at the Endocrine Society's 90th Annual Meeting in San Francisco. (2008-06-15)

Chicken embryo illuminates role of thyroid hormone in brain development
A thyroid hormone transporter is essential for the earliest stages of brain development, according to a JNeurosci study of a region of the developing chicken brain with a layered structure similar to the human cerebral cortex. (2017-11-06)

Research provides important insight on the brain-body connection
A study conducted by University of Arkansas researchers reveals that neurons in the motor cortex exhibit an unexpected division of labor, a finding that could help scientists understand how the brain controls the body and provide insight on certain neurological disorders. (2019-04-18)

'Schizophrenia' does not exist, argues expert
The term 'schizophrenia,' with its connotation of hopeless chronic brain disease, should be dropped and replaced with something like 'psychosis spectrum syndrome,' argues a professor of psychiatry in The BMJ today. (2016-02-02)

Women with intellectual and developmental disabilities have almost double the rate of repeat pregnancy
Women with intellectual and developmental disabilities have nearly double the rate of having another baby within a year of delivering compared to women without such disabilities, according to a new study published in CMAJ. (2018-08-13)

Thyroid cancer discovery points to new treatments, prevention
The actions of a mutated protein in cells linked to thyroid cancer have been uncovered by researchers at Queen's University. The discovery paves the way for the future development of drugs to more effectively target, treat and possibly even prevent both inherited and non-inherited thyroid cancers. (2006-11-15)

New findings about why losartan is effective in treating Marfan syndrome may reshape our thinking about patient management
Progressive dilation of the aortic root is considered one of the most serious manifestations of Marfan syndrome. The antihypertensive losartan is one of the two medications recommended by current guidelines attenuate the progression of this aortic enlargement, but which medication works best is still controversial. A new report in The American Journal of Pathology confirms losartan's efficacy but finds that the underlying mechanism of action is different than previously thought, opening up new possibilities for improvements in Marfan syndrome management. (2018-02-09)

Evidence of drug use in mothers of babies with NAS -- but also in control group mothers
Researchers conducting a study of newborns experiencing symptoms of drug withdrawal knew the infants' mothers would test positive for substance use. But in the course of their study they had another, surprising finding: They discovered that 1 in 4 women enrolled in the 'drug-free' comparison group, whose infants were not diagnosed with neonatal abstinence syndrome, also tested positive for illicit drug use. (2017-09-15)

New approach to studying chromosomes' centers may reveal link to Down syndrome and more
A new technique may force the centromere -- the mysterious stretch of DNA in the center of every chromosome -- to give up its secrets at last. The first test of the approach has yielded clues about the role of centromeres in Down syndrome, and further use may accelerate research on other conditions that may have roots in centromere-related problems. (2017-11-20)

Infant death study reveals dangerous sleep practices among babysitters, relatives, others
Babies who died during their sleep while being watched by someone other than parents often had been placed in unsafe sleep positions, such as on their stomachs, or in unsafe locations, such as a couch, a new study has found. (2018-04-02)

Dietary fiber protects against obesity and metabolic syndrome, study finds
Consumption of dietary fiber can prevent obesity, metabolic syndrome and adverse changes in the intestine by promoting growth of 'good' bacteria in the colon, according to a study led by Georgia State University. (2018-01-22)

Usher syndrome: Gene therapy restores hearing and balance
Scientists from the Institut Pasteur, Inserm, the CNRS, Collège de France, University Pierre et Marie Curie, and University Clermont Auvergne, have recently restored hearing and balance in a mouse model of Usher syndrome type 1G characterized by profound congenital deafness and vestibular disorders caused by severe dysmorphogenesis of the mechanoelectrical transduction apparatus of the inner ear's sensory cells. These findings open up new possibilities for the development of gene therapy treatments for hereditary forms of deafness. (2017-09-22)

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