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Current Rett Syndrome News and Events, Rett Syndrome News Articles.
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Fish give insight on sound sensitivity in autism
Scientists at The University of Queensland used zebrafish that carry the same genetic mutations as humans with Fragile X syndrome and autism, and discovered the neural networks and pathways that produce the hypersensitivities to sound in both species. (2020-11-10)

Tracking down the causes of heart attack
Heart attacks strike suddenly and have a range of different triggers. Researchers from Charité - Universitätsmedizin Berlin and the German Centre for Cardiovascular Research (DZHK) were able to uncover a further underlying cause. Studying arterial deposits (plaque) in patients with acute coronary syndrome, the researchers found that, in some patients, these were characterized by activated immune cells which, as a result of altered flow conditions within the vessel, had accumulated on the interior arterial wall, causing damage to the arterial lining. (2020-11-10)

A novel finding on Kabuki syndrome, a rare genetic disease
It has a long time since the cause of the disease has been identified: mutations of KMT2D gene codify for MLL4, a protein involved in the regulation of chromatin, which is the complex of proteins and nucleic acids contained in the nucleus of cells. However, research still has a long way to go to identify therapeutic approaches. An Italian team, coordinated by the University of Trento, has taken a step forward in this direction (2020-11-09)

Attending an HBCU may protect Black students from later health problems
African Americans who attend Historically Black Colleges or Universities (HBCUs) may be at lower risk for health problems later in adulthood compared to African Americans who attend predominantly white institutions, a new study suggests. (2020-11-09)

Down Syndrome-associated gene suppresses age-related corneal clouding
Down syndrome and hypercholesterolemia mouse models suggest that the DSCR-1 gene protects against abnormal cornea vascularization and associated blindness by suppressing oxidized LDL cholesterol production and downstream angiogenic signaling during chronic high cholesterol. While the neurological pathology of Down syndrome patients worsens with age, they are less susceptible to age-related vascular diseases. The responsible genes and mechanisms are not yet clear, but DSCR-1 is a strong candidate for a wide range of vascular diseases. (2020-11-05)

Delirium could be an early marker of COVID-19
Delirium accompanied by fever could be an early symptom of COVID-19. This is the main conclusion drawn by a scientific research review carried out by researchers from the Universitat Oberta de Catalunya (UOC) and published in the open access Journal of Clinical Immunology and Immunotherapy, which highlights the fact that, together with the loss of the senses of taste and smell and headaches that occur in the days prior to the manifestation of coughing and breathing difficulties, some patients also develop delirium. (2020-11-04)

Possible triggers of autism symptoms and motor issues identified for several rare diseases
* Study identifies possible genetic triggers for debilitating symptoms of several rare diseases * These conditions, including Prader-Willi and Angelman syndromes, have few treatments * The results could eventually lead to more effective and personalised therapies (2020-10-29)

Plant compound reduces cognitive deficits in mouse model of Down syndrome
The plant compound apigenin improved the cognitive and memory deficits usually seen in a mouse model of Down syndrome, according to a study by researchers at the National Institutes of Health and other institutions. Apigenin is found in chamomile flowers, parsley, celery, peppermint and citrus fruits. The findings raise the possibility that a treatment to lessen the cognitive deficits seen in Down syndrome could one day be offered to pregnant women whose fetuses have been diagnosed with Down syndrome through prenatal testing. (2020-10-23)

Scientists take major step toward Angelman Syndrome gene therapy
Babies born with a faulty maternal copy of the UBE3A gene will develop Angelman syndrome, a severe neurodevelopmental disorder with no cure and limited treatments. Now, for the first time, scientists at the UNC School of Medicine show that gene editing and gene therapy techniques can be used to restore UBE3A in human neuron cultures and treat deficits in an animal model of Angelman syndrome. (2020-10-21)

Tied to undiagnosed disease, aortic dissection in pregnancy proves difficult to predict
The 100th report out of the International Registry of Acute Aortic Dissection details the experiences of 29 women who faced this rare life-threatening complication while pregnant. (2020-10-14)

Low risk of COVID-19 infection found among people with congenital heart disease
Results of a retrospective analysis suggest that people born with a heart defect who developed COVID-19 symptoms had a low risk of moderate or severe COVID-19 infection, according to a new article published today in the Journal of the American Heart Association, an open access journal of the American Heart Association. (2020-10-14)

Asthma and food allergies during childhood associated with increased risk of IBS
Those with IBS at 16 were almost twice as likely to have had asthma at the age of 12 (11.2% vs 6.7%). Almost half of children with IBS at 16 (40.7%) reported food hypersensitivity at 12 years (compared to 29.2% of children without IBS at 16). (2020-10-11)

Breakthrough discovery in gene causing severe nerve conditions
Researchers have made a breakthrough genetic discovery into the cause of a spectrum of severe neurological conditions. (2020-10-08)

Pregnancy complications linked to heightened risk of heart disease and stroke in later life
Pregnancy complications such as miscarriage, pre-eclampsia, diabetes in pregnancy (gestational diabetes) and pre-term birth are linked to a heightened risk of heart disease in later life, suggests an overarching (umbrella) analysis of data published by The BMJ today. (2020-10-07)

RTL1 gene a likely culprit behind temple and Kagami-Ogata syndromes
Researchers from Tokyo Medical and Dental University (TMDU) have found that Rtl1, which is a mouse ortholog of the human RTL1 gene, appears to be the major gene responsible for muscle and placental defects in models of Temple and Kagami-Ogata syndromes, which are serious genetic conditions. Theirs is the first study to demonstrate that a domesticated gene that is specific to placental mammals plays an important role in fetal and neonatal muscle development. (2020-10-06)

Chinese researchers uncover link between phase separation and human developmental disorders
Researchers from the Shanghai Institute of Organic Chemistry (SIOC) of the Chinese Academy of Sciences have uncovered the mechanism that underlies the pathogenesis of Noonan syndrome and Noonan syndrome with multiple lentigines. (2020-09-30)

Novel Drosophila-based disease model to study human intellectual disability syndrome
The researchers from the TalTech molecular neurobiology laboratory headed by professor Tõnis Timmusk used the fruit fly, Drosophila melanogaster to develop a novel disease model for Pitt-Hopkins syndrome (PTHS). Their study was reported in the July issue of Disease Models and Mechanisms. (2020-09-29)

NIH-funded study sheds light on abnormal neural function in rare genetic disorder
A genetic study has identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome. The overexpression of a specific gene and exposure to several antipsychotic drugs helped restore normal cellular functioning. The study sheds light on factors that may contribute to the development of mental illnesses in 22q11.2 deletion syndrome and may help identify possible targets for treatment development. (2020-09-28)

Study suggests older Western Europeans could already have systemic 'profile' that makes them susceptible to severe COVID-19
New research presented the ESCMID Conference on Coronavirus Disease (ECCVID, online 23-25 September) shows that the severe COVID-19 immunological profile, represented by changes in cell populations and circulating inflammatory proteins, is already partly present in older healthy individuals (2020-09-24)

CNIO identifies genetic factors associated to hand-foot syndrome in chemotherapy with capecitabine
* The researchers studied more than 600,000 genetic variants in the genome of 166 patients treated with the chemotherapy drug capecitabine * Before undergoing treatment, the patients carrying the risk alleles for the hand-foot syndrome had low levels of two proteins that are key to the effective functioning of the skin barrier * The finding may help classify patients according to their genetic risk for developing this side effect of some cancer treatments (2020-09-21)

Minimally invasive ultrasound-guided carpal tunnel release improves long-term outcomes
According to ARRS' American Journal of Roentgenology (AJR), ultrasound-guided carpal tunnel release quickly improves hand function and reduces hand discomfort; improvement persisted beyond one year. Thus, ultrasound-guided carpal tunnel release may be a safe, effective, and less invasive alternative to traditional surgery. (2020-09-16)

Research sheds light on earliest stages of Angelman syndrome
New research provides insights into the earliest stages of Angelman syndrome. The work also demonstrates how human cerebral organoids can be used to shed light on genetic disorders that affect human development. (2020-09-10)

Cancer drug can rebalance kidney function in a devastating genetic disease
Researchers at the University of Cambridge and the University of Zurich have discovered that a drug newly approved for cancer improves kidney dysfunction in a mouse model of Dent disease 2 and Lowe syndrome (2020-09-09)

Cellular-level interactions that lead to the cytokine storm in COVID-19
Scientists review macrophage activation syndrome -- a feature of the cytokine storm that kills patients with severe cases of COVID-19, as well as possible treatments. (2020-09-08)

New insights into why people with down syndrome are at higher risk for leukemia
Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago were the first to examine endothelial cells - one of the main sources of blood production - for clues as to why people with Down syndrome have higher prevalence of leukemia. They identified a new set of genes that are overexpressed in endothelial cells of patients with Down syndrome. (2020-09-08)

Study underscores value of down syndrome clinic to you program
A new software program effectively brings the expertise of Massachusetts General Hospital specialists to many more patients with Down syndrome. (2020-09-08)

Rare hyperinflammatory syndrome in children with COVID-19 described
Researchers at Karolinska Institutet and Science for Life Laboratory in Sweden and Tor Vergata University of Rome in Italy have mapped the immune response in children affected by a rare but life-threatening inflammatory syndrome associated with COVID-19. The study, which is published in the scientific journal Cell, reveals that the inflammatory response differs from that in Kawasaki disease and severe acute COVID-19. (2020-09-07)

Toxicity of dorsal root ganglia is widely associated with CNS AAV gene therapy
A meta-analysis of non-human primate (NHP) studies showed that adeno-associated virus (AAV) gene therapy often caused dorsal root ganglion (DRG) pathology. There were no clinical effects. (2020-09-02)

Even light alcohol consumption linked to higher risk of obesity and metabolic syndrome in study of 27 million adults
Consuming more than half a standard alcoholic drink a day (equivalent to 7g of pure alcohol) is associated with an increased risk of obesity and metabolic syndrome in both men and women, and the risk rises in proportion with alcohol intake, according to a nationwide study involving nearly 27 million adults (aged 20 years and older) from South Korea, being presented at The European and International Congress on Obesity (ECOICO). (2020-09-02)

Misfiring brain cells may cause swallowing woes in children with developmental disorders
Misfiring brain cells that control key parts of the mouth and tongue may be creating swallowing difficulties in children with neurodevelopmental disorders, according to neuroscientists with Virginia Tech and George Washington University. Problems ingesting, chewing, or swallowing food occur in up to 80 percent of children with developmental disorders and can lead to food aspiration, choking, or life-threatening respiratory infections. (2020-09-01)

Antibody blockade effective in treatment of severe COVID-19
A hyperinflammatory response following infection or trauma can cause the life-threatening condition cytokine release syndrome (CRS). Researchers led by Osaka University found that IL-6 signaling induces the expression of inflammatory cytokines and PAI-1 in CRS patients, causing respiratory distress and multiple organ failure, which are also observed in severe COVID-19 patients. Blockade of IL-6 signaling using a human monoclonal antibody reduced PAI-1 levels and alleviated the clinical manifestations of disease in severe COVID-19 patients. (2020-08-31)

Mental health and the COVID-19 pandemic: A call for action
The inclusion of mental health as part of national public health response to the COVID-19 pandemic is mandatory in assisting all those in need. (2020-08-30)

Children and young people have less severe COVID-19 than adults and death is exceptionally rare
Children and young people have less severe covid-19 than adults and death is exceptionally rare, only occurring in children with serious underlying conditions, confirms a study published by The BMJ today. (2020-08-27)

COVID-19 less deadly and causes milder symptoms in children
Children and teenagers are less likely than adults to develop severe Covid-19 or die from the disease, according to the world's largest study of hospital patients with Covid-19. Obesity, Black ethnicity and being under one month old are factors that increased the risk of a child being admitted into intensive care with the condition, the report said. The findings also identify new symptoms of a severe inflammation syndrome that significantly increases the risk of children with Covid-19 needing intensive care. (2020-08-27)

UofSC researchers reveal how THC may treat acute respiratory distress syndrome
Acute Respiratory Distress Syndrome (ARDS), when caused by a bacterial toxin known as Staphylococcal enterotoxin, can be completely prevented by treatment with Δ9-tetrahydrocannabinol (THC), a cannabinoid found in the cannabis plant. (2020-08-26)

Investigational new therapy prevents onset of Dravet syndrome symptoms in mice
In a development that may finally offer hope to children with Dravet syndrome and their parents, a promising investigational new therapeutic appears to alter the destructive course of the deadly disease in a mouse model. (2020-08-26)

Metabolic syndrome linked to worse outcomes for COVID-19 patients
Patients hospitalized with COVID-19 who had a combination of high blood pressure, obesity and diabetes were over three times more likely to die from the disease, according to a new Tulane University study published in Diabetes Care. (2020-08-25)

Studies of gut microbiota and contractility help deal with chronic constipation
Chronic constipation (CC) remains a serious medical and social problem because the complexity of diagnosis, the lack of a single approach to treatment, and unsatisfactory treatment results. The causes of constipation are varied - from the abnormal anatomical structure of the large intestine and its location in the abdominal cavity to impaired neurohumoral regulation of its motility, endocrine pathology, psychogenic factors, poor nutrition, as well as a combination of these factors. (2020-08-20)

Childhood syndrome linked to COVID-19 causes profound immune changes
Researchers have uncovered how the immune system is altered in a rare COVID-19 related illness in children referred to as paediatric inflammatory multisystem syndrome (PIMS-TS). (2020-08-18)

Research story tip: Down syndrome mice open door to better understanding of the disorder
Johns Hopkins Medicine researchers and their collaborators have created and characterized a new mouse replica of Down syndrome, long considered one of the most challenging disorders to simulate in laboratory animals. (2020-08-18)

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