Current Usher Syndrome News and Events

Current Usher Syndrome News and Events, Usher Syndrome News Articles.
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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)

CHOP experts describe types of rashes associated with MIS-C
In a study published in Open Forum Infectious Diseases, researchers at Children's Hospital of Philadelphia (CHOP) describe the array of rashes seen in MIS-C patients at their hospital through late July 2020, providing photos and information that could help doctors diagnose future cases. (2021-02-22)

International study finds increased COVID-19 mortality among adults with Down syndrome
A new study by an international team of researchers found that adults with Down syndrome are more likely to die from COVID-19 than the general population, supporting the need to prioritize vaccinating people with the genetic disorder. (2021-02-22)

Study demonstrates the reasons to screen children with cancer for inherited cancer genes
Experts at MSK Kids, the pediatric oncology program at MSK, have found that inherited cancer genes are more common than expected in children with cancer. (2021-02-16)

IU researchers find disease-related gene changes in kidney tissue
Researchers from Indiana University have identified key genetic changes in the interstitial kidney tissue of people with diabetes, a discovery that signifies the potential for a revolutionary new genetic approach to the treatment of kidney disease. They will contribute their findings to the Kidney Precision Medicine Project's (KPMP) ''cell atlas,'' a set of maps used to classify and locate different cell types and structures within the kidney. (2021-02-16)

Hope for children with bow hunter syndrome
DALLAS - Feb. 11, 2021 - Fusing the neck's top two vertebrae can prevent repeat strokes in children with bow hunter syndrome, a rare condition that affects a handful of U.S. pediatric patients each year, UT Southwestern researchers suggest in a recent study. The finding, published online in Child's Nervous System, offers a new way to treat these children and protect them from potentially lifelong neurological consequences. (2021-02-11)

Early study points to potential therapeutic avenue for a pair of rare pediatric diseases
Scientists have devised a new approach for detecting and potentially heading off the effects of two rare pediatric diseases before birth. The study, performed in mouse models of the diseases and published today in Cell Reports, represents an important step toward much-needed early interventions for Beckwith-Wiedemann syndrome and Silver-Russell syndrome. (2021-02-09)

Hearing acrobatics
The sense of hearing is, quite literally, a molecular tightrope act. Turns out, it involves acrobatics as well. New research shows that a dynamic and delicate connection between two pairs of diminutive protein filaments plays a central role in in hearing.The findings present a new understanding of the molecular underpinnings of hearing, as well as the sense of balance, which arises from similar processes in the inner ear. (2021-02-08)

The genetic susceptibility of people with Down's syndrome to COVID-19
A study reveals the genetic factors that may expose or protect people with Down syndrome from SARS-CoV-2. TMPRSS2, a gene that codes for an enzyme critical for aiding the entry of SARS-CoV-2 in human cells, had 60% higher levels of expression in Down syndrome. The researchers also found higher expression levels for CXCL10, a gene that can trigger cytokine storms. The authors call to vaccinate people with Down syndrome against COVID-19 as a priority. (2021-02-08)

Lockdown linked to drop in asthma attacks, GP data suggests
Asthma attack rates seen at GP surgeries in England fell significantly during the first Covid-19 pandemic lockdown of 2020, a study suggests. (2021-02-08)

Deadly white-nose syndrome changed genes in surviving bats
Scientists have found genetic differences between bats killed by white-nose syndrome and bats that survived, suggesting that survivors rapidly evolve to resist the fungal disease, according to a Rutgers-led study with big implications for deciding how to safeguard bat populations. (2021-02-04)

New technique identifies important mutations behind Lynch Syndrome
A Michigan Medicine team describes a method for screening so-called genetic variants of uncertain significance in the hopes of identifying those mutations that could cause cancer. (2021-01-29)

First hybrid gene therapy shows early promise in treating long QT syndrome
In a new study published in Circulation, Mayo Clinic researchers provide the first preclinical, proof-of-concept study for hybrid gene therapy in long QT syndrome, a potentially lethal heart rhythm condition. (2021-01-28)

Rare genetic syndrome identified, caused by mutations in gene SATB1
Variations in the gene SATB1 have been shown to cause a rare genetic syndrome. Different variations across the gene lead to varied effects on the cell, leading to a difference in the severity of neurodevelopmental disorders. Discovery of this genetic syndrome is hoped to provide information to families and individuals affected by SATB1-syndrome. (2021-01-28)

Approximately half of AD dementia cases are mild, one-fifth are severe
What percent of patients with Alzheimer's Disease (AD) currently have severe dementia? Do more people have mild disease? Or are the majority suffering with moderate dementia? A new study using data from the Framingham Heart Study (FHS) sheds light on these trends. (2021-01-13)

Pillar-like molecules as biosensors for metabolites
Researchers at Kanazawa University report in Communications Chemistry that a molecule known as pillar[6]arene can form a host-guest compound with a cancer-associated metabolite. The phenomenon can be used to efficiently detect the metabolite in crude biological samples, which is important for preventing and treating metabolic syndrome and associated pathologies. (2021-01-11)

Study: New insights on the role of the MLL4 gene in Kabuki syndrome
Research suggests that MLL4 controls the production of neurons that secrete growth hormone-releasing hormone (GHRH) in a part of the brain called the hypothalamus. (2021-01-11)

Bats with white-nose syndrome prefer suboptimal habitats despite the consequences
Bats are mistakenly preferring sites where fungal growth is high and therefore their survival is low. (2021-01-08)

A subtle change in the DNA may predispose to polyneuropathy after gut infection
Researchers from Tokyo Medical and Dental University (TMDU) identified a novel genetic variant associated with Guillain-Barré syndrome (GBS). By analyzing the DNA sequence of patients with the disease, the researchers identified two novel variants of the ganglioside-binding protein Siglec-10 accumulated in the patients. They found that one of these variants impairs the function of the protein, predisposing carriers to the development of GBS. This study improves our understanding of the pathophysiology of GBS. (2021-01-07)

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)

New research finds ginger counters certain autoimmune diseases in mice
The main bioactive compound of ginger root lowers autoantibody production and helps halt disease progression in mice with antiphospholipid syndrome and lupus. (2021-01-06)

Some English bulldogs thought to have cancer may have newly identified syndrome
Some English bulldogs diagnosed with a common cancer may instead have a newly described, non-cancerous syndrome called polyclonal B?cell lymphocytosis. The discovery was made by Morris Animal Foundation-funded researchers at Colorado State University during a study to better understand B-cell chronic lymphocytic leukemia (BCLL). The team published their findings in the Journal of Veterinary Internal Medicine. (2021-01-05)

Metabolic syndrome 'interacts' with COVID-19
Announcing a new publication for BIO Integration journal. In this review article the authors Zeling Guo, Shanping Jiang, Zilun Li and Sifan Chen from Sun Yat-Sen University, Guangzhou, China review how metabolic syndrome 'interacts' with COVID-19. (2020-12-23)

Scientists pinpoint molecular cause for severe disorder in children
A team of scientists from the University of Ottawa have opened a window into the cause of a rare genetic disorder that causes mortality in young children. (2020-12-22)

Prenatal testing has halved the number of babies born with Down syndrome in Europe
For the first time, a study has aggregated data on the number of babies born with Down syndrome in each European country. Researchers estimate the number of people with Down syndrome alive each year between 1950 and 2015. It is critical to have accurate estimates of the prevalence of Down syndrome so each country can evaluate the impact of prenatal testing on its population and to allocate appropriate resources to its citizens with Down syndrome. (2020-12-18)

Water may be an effective treatment for metabolic syndrome
Researchers at the University of Colorado Anschutz Medical Campus have discovered that fructose stimulates the release of vasopressin, a hormone linked to obesity and diabetes. They also found that water can suppress the hormone and alleviate these conditions in mice. (2020-12-15)

Atom-thin transistor uses half the voltage of common semiconductors, boosts current density
University at Buffalo researchers report a new, two-dimensional transistor made of graphene and molybdenum disulfide that needs less voltage and can handle more current than today's semiconductors. (2020-12-10)

Weathered microplastic particles, readily internalized by mouse cells, may pose a greater risk than pristine ones
Microplastic particles exposed to freshwater or saltwater environments for several weeks are about 10 times more likely than pristine particles to be absorbed by mouse cells, due to a crust of microorganisms and biomolecules that forms on the particles' surfaces, according to a new study. The results indicate that this crust acts as a biomolecular 'Trojan horse.' (2020-12-09)

How poor oral hygiene may result in metabolic syndrome
Researchers from TMDU identified a novel mechanism by which periodontal disease may cause metabolic syndrome. By studying patients with metabolic syndrome, the researchers demonstrated high antibody titers against Porphyromonas gingivalis, the bacterium causing periodontal disease. In a mouse model, the researchers then showed that infection with this bacterium causes systemic insulin resistance and metabolic dysfunction in skeletal muscle by altering the gut microbiome. This study shows the effect periodontal disease can have on the entire body. (2020-12-08)

Rutgers reports first instance of COVID-19 triggering recurrent Guillain-Barré Syndrome
Researchers at Rutgers Robert Wood Johnson Medical School have reported the first instance of COVID-19 triggering a recurrence of Guillain-Barré Syndrome - a rare disorder where the body's immune system attacks nerves and can lead to respiratory failure and death. (2020-12-08)

The gut microbiome in polycystic ovary syndrome and its association with metabolic traits
University of Tartu researchers and their collaborators from Finland and Spain investigated the relationship between the gut microbiome and polycystic ovary syndrome. Their study revealed that women with polycystic ovary syndrome in their late reproductive years have significant microbial changes in gut-related to their metabolic health. (2020-12-08)

Feeling out fine differences in touch sensitivity
We have known about a skin touch sensor for more than 160 years. MDC scientists now publish in Nature Neuroscience some of the first proof of its involvement in detecting tiny vibrations that help us to distinguish between a rough or a smooth surface. (2020-12-07)

Gestational age linked to ADHD in children with Down syndrome
A new study by the UC Davis MIND Institute finds a connection between gestational age and ADHD in children with Down syndrome. An earlier gestational age is linked to higher ADHD symptoms later in childhood. (2020-12-04)

New childhood dementia insight
Is the eye a window to the brain in Sanfilippo syndrome, an untreatable form of childhood-onset dementia, Australian researchers ask in a new publication. The findings of the NHMRC-funded project, just published in international journal Acta Neuropathologica Communications, highlight the potential for using widely available retinal imaging techniques to learn more about brain disease and monitor treatment efficacy. (2020-12-01)

How thyroid function affects stress-related heart problems
Chest pain, shortness of breath, heart flutter and palpitations: these symptoms are not only characteristic of a heart attack, but can also be caused by another, as yet little researched condition. So-called Takotsubo cardiomyopathy is a rare but life-threatening disease of the heart that can occur during extreme stress events. Heart and hormone research teams in Bochum and Mannheim have now shown that there is apparently a strong link between the occurrence of Takotsubo syndrome and impaired thyroid function in patients. (2020-12-01)

Breakthrough in studying the enzyme that ultimately produces fish odour syndrome
Fish odour syndrome (trimethylaminuria) is a debilitating disease, in which the liver cannot break down the smelly chemical trimethylamine which is produced by enzymes from bacteria residing in the gut leaving people with a fish like odour. Researchers from the University of Warwick are paving the way to prevent the syndrome after a breakthrough in studying the enzyme in the gut which produces trimethylamine. (2020-11-23)

Early signs of Alzheimer's disease in people with Down's syndrome
Researchers at Karolinska Institutet in Sweden have studied the incidence and regional distribution of Alzheimer's disease biomarkers in the brains of people with Down's syndrome. The results can bring new possibilities for earlier diagnosis and preventive treatment of dementia. The study is published in Molecular Neurodegeneration. (2020-11-22)

Maraxilibat reduces debilitating itching in children with Alagille syndrome
On behalf of Childhood Liver Disease Research Network (ChiLDReN), Texas Children's Hospital and Baylor College of Medicine researchers report that prolonged treatment with Maraxilibat resulted in clinically meaningful improvements in debilitating itching (pruritus) and related quality of life outcomes in children with Alagille syndrome. The novel pharmacological approach addresses a major unfulfilled therapeutic need to control severe and relentless itching in pediatric patients with Alagille syndrome. (2020-11-19)

Cellular pathway of genetic heart disease similar to neurodegenerative disease
Research on a genetic heart disease has uncovered a new and unexpected mechanism for heart failure. This landmark discovery found a correlation between the clumping of RNA-binding proteins long linked to neurodegenerative disease and the aggregates of protein found in the heart tissue of patients with RBM20 dilated cardiomyopathy. (2020-11-18)

A patented solution for dry mouth relief and food product development
A team of scientists from the University of Leeds have developed a new hydrogel that has significant potential for oral care products that can help with dry mouth relief. (2020-11-17)

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