Aging-US published "Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity" which reported that Mandibular hypoplasia, Deafness and Progeroid features with concomitant Lipodystrophy define a rare systemic disorder, named MDPL Syndrome, due to almost always a de novo variant in POLD1 gene, encoding the DNA polymerase δ. A decline of cell growth, cellular senescence and a blockage of proliferation in G0/G1 phase complete the aged cellular picture. Moreover, the rate of telomere shortening was greater in pathological ...

Researchers at the DZNE (Germany), at Massachusetts General Hospital (USA) and at the genomic medicine company Sangamo Therapeutics, Inc. tested a novel gene regulation approach to treat brain diseases such as Alzheimer's in laboratory studies. It leverages zinc finger proteins, which specifically bind to the DNA that codes for the protein Tau without altering it, thereby reducing Tau production in the brain and preventing nerve damage. The preclinical results, published in the journal Science Advances, could lay the foundation for new therapies. The Tau ...

The efficacy of biosensors used in clinical tests depends critically on the surface of the device on which the biorecognition molecules are immobilized. This surface can be adjusted and sometimes controlled using self-assembled molecular monolayers as matrices. The monolayers are films made up of organic molecules that under the right conditions assemble spontaneously on metal surfaces via chemical bonds between the sulfur atoms and the metal. A study conducted at the University of São Paulo's São Carlos Physics Institute (IFSC-USP) in Brazil compared the performances of two types of self-assembled ...

Myelodysplastic syndrome (MDS) is a disease of the stem cells in the bone marrow, which disturbs the maturing and differentiation of blood cells. Annually, some 200 Finns are diagnosed with MDS, which can develop into acute leukaemia. Globally, the incidence of MDS is 4 cases per 100,000 person years. To diagnose MDS, a bone marrow sample is needed to also investigate genetic changes in bone marrow cells. The syndrome is classified into groups to determine the nature of the disorder in more detail. In the study conducted at the University of Helsinki, microscopic images of MDS patients' bone marrow samples were examined utilising an image analysis technique based ...

Greenwood, SC (March 22, 2021) - A research team at the Greenwood Genetic Center (GGC) has identified the mechanism that causes movement disorders in patients with mutations in the NUS1 gene. Using both cellular and model organism studies, cholesterol accumulation was found to contribute to the symptoms of seizures, ataxia, and movement abnormalities. This breakthrough study on NUS1, a gene that has also been potentially linked to Parkinson's Disease, is reported in the current issue of Genetics in Medicine, the Journal of the American College of Medical Genetics and Genomics. Chloe Murphy, 15, of Bluffton, SC began experiencing tremors at age three. Through the years she has also experienced seizures, atypical eye movements, learning delays, ...

Reston, VA--A new treatment for late-stage neuroendocrine tumors (NETs) has been found to be more effective and have fewer side effects than the current standard of care, according to research published in the March issue of The Journal of Nuclear Medicine. The novel peptide receptor radionuclide therapy holds promise to reduce mortality among NET patients and decrease the financial burden of their continual treatment. NETs are a diverse group of tumors that originate from the neuroendocrine system, which is responsible for regulating hormones throughout the body. The number of people who are diagnosed with NETs is growing; the incidence of NETs increased 6.4-fold from 1973 to 2012. However, because they are rare, varied, ...

HOUSTON - (March 22, 2021) - There are many ways to test municipal wastewater for signs of the virus that causes COVID-19, but scientists in Houston have determined theirs is the best yet. A study led by environmental engineer Lauren Stadler of Rice University's Brown School of Engineering with the aid of the City of Houston Health Department and Baylor College of Medicine compared five processes used by labs around the country to concentrate samples and find the virus in wastewater from six Houston plants. The process employed at Rice and now Baylor, called "electronegative filtration with bead beating," proved the most sensitive to signs of the virus as well as the most cost-effective. The study appears in the Elsevier journal Water Research. There ...

Breast cancer is the most common type of tumour found in women. 69,000 new cases are diagnosed each year in Germany alone. Around 80 percent of tumours originate in the luminal cells, the milk-producing cells of the mammary gland. 10 percent of the cells resemble those of the underlying (basal) cell layer. These are muscle-like epithelial cells that contract when the mammary gland produces milk in order to push it out. "While luminal breast tumours are usually sensitive to hormones, 80 percent of basal-like tumours are triple-negative. They have no receptors ...

Scientists from the University of Leeds's Nutritional Epidemiology Group used data from 500,000 people, discovering that consuming a 25g serving of processed meat a day, the equivalent to one rasher of bacon, is associated with a 44% increased risk of developing the disease. But their findings also show eating some unprocessed red meat, such as beef, pork or veal, could be protective, as people who consumed 50g a day were 19% less likely to develop dementia. The researchers were exploring a potential link between consumption of meat and the development of dementia, a health condition that affects 5%-8% of over 60s worldwide. Their results, titled Meat consumption and risk of incident dementia: cohort study of 493888 UK Biobank participants, ...

Ikoma, Japan - What if you found out that you could heal using only a finger? It sounds like science fiction, reminiscent of the 1982 movie E.T. Well, it turns out that your body's own cells can do something similarly unexpected. Researchers at Nara Institute of Science and Technology (NAIST) report in a new study seen in Developmental Cell a means by which cells may use "fingers" to communicate instructions for wound closure. NAIST project leader Shiro Suetsugu has devoted his career to studying how cells shape themselves, initiate and accept communication among one other. An under-appreciated means of doing so is through filopodia, small finger-like ...

WHAT: Children in high-poverty neighborhoods who participated in a comprehensive preschool program that provided parents with health and educational services and job training had a lower body mass index (BMI) in their late 30s than a similar group who participated in the usual early childhood programs, according to a study funded by the National Institutes of Health. The study authors concluded that comprehensive, school-based early childhood programs could lead to improvements in body mass index later in life. The study was conducted by Arthur J. Reynolds, Ph.D., of the University of Minnesota, and colleagues. It appears in JAMA Pediatrics. ...

What The Study Did: This study examined whether the quantity and quality of antibodies against SARS-CoV-2 were different among children, adolescents and young adults. Authors: Zhen Zhao, Ph.D., of Weill Cornell Medicine in New York, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2021.4302) Editor's Note: The article includes conflict of interest and funding support disclosures. Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support. INFORMATION: Media ...

What The Study Did: Researchers investigated whether shelter-in-place orders in the United States during the early weeks of the COVID-19 pandemic were associated with changes in body weight among adults. Authors: Gregory M. Marcus, M.D., M.A.S., of the University of California, San Francisco, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2021.2536) Editor's Note: Please see the article for additional information, including other authors, author contributions ...

What The Study Did: This study estimates how many older adults in the United States who need equipment to help with bathing and toileting don't have it and the factors associated with not having such equipment. Authors: Kenneth Lam, M.D., University of California, San Francisco, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamainternmed.2021.0204) Editor's Note: The article includes conflicts of interest and funding/support disclosures. Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support. INFORMATION: Media advisory: The ...

What The Study Did: This economic evaluation estimates the budget impact and affordability of a gene therapy for severe sickle cell disease from the perspective of U.S. Medicaid programs with the highest prevalence of sickle cell disease. Authors: Patrick DeMartino, M.D., of Oregon Health & Science University in Portland, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamapediatrics.2020.7140) Editor's Note: The article includes conflict of interest disclosures. Please see the article for additional information, including ...

What The Study Did: Researchers investigated associations of maternal hypertensive disorders of pregnancy and the risk of autism spectrum disorders, attention-deficit/hyperactivity disorder and intellectual disability in children as well as overall cognitive performance. Authors: Judith S. Brand, Ph.D., of Örebro University in Örebro, Sweden, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamapediatrics.2020.6856) Editor's Note: The article includes conflict of interest and funding/support disclosures. Please see the article for additional information, including other authors, author contributions ...

What The Study Did: Rates and significance of incidental findings in brain magnetic resonance imaging (MRI) in children were investigated in this study. Authors: Leo Sugrue, M.D., Ph.D., of the University of California, San Francisco, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamaneurol.2021.0306) Editor's Note: The article includes conflicts of interest and funding/support disclosures. Please see the article for additional information, including other authors, author ...

Billions of people's lives changed across the world when the pandemic began, as we experienced a 'new normal' with more people being online than ever before With this there came a surge of unique cyber-crime related circumstances affecting society and businesses On some days 3 or 4 unique cyber-attacks were being reported during the pandemic, a consortium of researchers have found There has been a remarkable surge in cyber-security crime experienced during the global COVID-19 pandemic, with a particular significance between governmental policy announcements and cyber-crime campaigns. A consortium of researchers, including WMG, University of Warwick report that some days as many as 3 to 4 new cyber-attacks were being ...

(Boston)--Primary myelofibrosis (PMF), a relatively rare but painful type of bone marrow cancer, disrupts the body's normal production of blood cells by causing extensive scarring in the bone marrow. Regrettably, few treatment options are available, with most of them being palliative in nature. The only curative treatment is a stem cell transplant, for which few patients are eligible. A new study by researchers at Boston University School of Medicine (BUSM) led by corresponding author Katya Ravid, DSc, has found that the drugs PXS-LOX_1 and PXS-LOX_2 are capable of slowing PMF's disease progression in experimental models. According to Ravid, professor of medicine ...

(Boston)--While transgender and gender-diverse individuals have historically been disproportionately susceptible to violence and homicides, the recent rise in visibility of ongoing trans-focused violence has highlighted how the medical-legal community, in general and forensic anthropology, in particular, have largely neglected trans and gender-diverse people. This is exemplified by a new study that found nearly 30 percent of forensic anthropologists surveyed had participated in a case involving a transgender individual, yet the vast majority (75 percent) were unfamiliar with gender-affirming surgeries. "Because medical interventions to treat the distress ...

(Boston)--There are two simultaneously occurring pandemics in the U.S.: Racism and COVID-19. "These mutualistic pandemics have thrown into stark focus the separate and unequal systems through which people access health care," explained corresponding author Emily Cleveland Manchanda, MD, assistant professor of emergency medicine at Boston University School of Medicine. Cleveland Manchanda and colleagues authored a JAMA Network Open commentary explaining that it is imperative that crisis standards of care (CSC), guidelines designed to ensure the fair allocation of scarce hospital resources across racial and ethnic groups, do not exacerbate racial inequities further. Their commentary is in response to a study also published in JAMA ...

RESEARCH TRIANGLE PARK, N.C. - Army-funded researchers demonstrated a machine learning approach that corrects quantum information in systems composed of photons, improving the outlook for deploying quantum sensing and quantum communications technologies on the battlefield. When photons are used as the carriers of quantum information to transmit data, that information is often distorted due to environment fluctuations destroying the fragile quantum states necessary to preserve it. Researchers from Louisiana State University exploited a type of machine learning to correct ...

For the study, 209 farmers and 98 environmental scientists were asked how they perceive agricultural biodiversity and its management in Germany and Austria. "The results show that the perceptions of scientists and farmers on biodiversity, ecosystem services and management measures are very different," says Bea Maas, lead author from the University of Vienna. "Especially the diverging perceptions of information sources that are important for agricultural decisions show need for more cross-disciplinary collaboration in sustainable development processes," adds Maas. The survey integrated ...

The lightning speed with which scientists developed and tested the COVID-19 vaccine is a true scientific triumph -- one that would not have been possible without the more than 70,000 volunteers who participated in clinical trials of the vaccine. Public participation is critical to the success of any medical research. Yet recruiting volunteers for trials is increasingly challenging. New research from Washington University in St. Louis suggests the widening ideological gap in the U.S. may contribute to these challenges. Researchers found evidence that Americans approach opportunities to contribute to medical research with either a general aversion or an inclination to participate. This research ...

While some youth experiment with marijuana but don't go on to long-term use, others develop a problematic pot habit that continues into adulthood. A major new analysis shows that at least a small portion of the risk for developing into an adult marijuana user may be related to inherited behaviors and traits that appear during adolescence. The journal Addiction published the findings by researchers at Brown University and Emory University. "Our analysis suggests that some early adolescent behaviors and traits -- like depression, neuroticism and acting out -- can be indicative for cannabis use later in life," says Rohan Palmer, senior author of the paper and assistant professor in Emory's ...