Inflammatory potential of diet and risk of nonalcoholic fatty liver disease: a prospective cohort study

Walking at a brisk pace for just 75 minutes every week could cut your risk of depression, a new study finds. The World Health Organization recommends everyone should exercise for at least two-and-a-half hours every seven days. But researchers at Cambridge University, England, found adults who got half as much...

European Journal of Human Genetics (2022)Cite this article. In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.

Correction to: Scientific Reports https://doi.org/10.1038/s41598-022-09232-7, published online 30 March 2022. The original version of this Article contained an error in the spelling of the authors Renata Auricchio, Ilaria Calabrese, Martina Galatola, Donatella Cielo, Fortunata Carbone, Marianna Mancuso, Giuseppe Matarese, Riccardo Troncone, Salvatore Auricchio & Luigi Greco which were incorrectly given as Auricchio Renata, Calabrese Ilaria, Galatola Martina, Cielo Donatella, Carbone Fortunata, Mancuso Marianna, Matarese Giuseppe, Troncone Riccardo, Auricchio Salvatore & Greco Luigi. The original article has been corrected.

It is increasingly clear that pancreatic islet replacement is needed to provide a comprehensive treatment for the growing numbers of patients with type 1 diabetes mellitus. Advances from the past year suggest that this goal might now be within reach. We are currently celebrating 100 years of insulin therapy for...

To date, no study has reported the objective metabolic laboratory findings worldwide or the comorbidities for Ménière's disease (MD) using a population-based design in Asian populations. The aim of this study was to investigate the comorbidities and associated factors for MD using the Korean National Health Insurance Service database. This retrospective population-based study was conducted using a data from the National Sample Cohort database from 2009 to 2015. We only enrolled patients whose records showed a prescription for MD medicine and audiometry findings as well as an appropriate diagnostic code. We also included a matched cohort without MD who were enrolled randomly and matched for sex, age, year of diagnosis, income level, and residential area with the MD group with a ratio of 10:1. We evaluated comorbidities including autoimmune, allergic, metabolic diseases and cancer and the health screening data including general characteristics (height, weight, waist circumference, body mass index, and blood pressure), laboratory findings (fasting glucose, cholesterol, triglyceride, high-density lipoproteintryglyceride (HDL) cholesterol, low-density lipoproteintryglyceride cholesterol, hemoglobin, creatinine, aspartate aminotransferase and alanine aminotransferase, and gamma-glutamyltrans- peptidase (rGT)), and general health behaviors (smoking, alcohol, and exercise) of the MD group, and compared these characteristics with those of the MD-free control group. A total of 2,013 and 20,130 participants were included in the MD and MD-free control groups (1,640 and 15,458 for health screening data). We found the increase in incidence of allergic rhinitis and allergic asthma, decrease in systolic blood pressure, HDL cholesterol, and rGT, and less frequent alcohol consumption and less prevalent smoking in the MD group. No significant differences were observed between the groups in the incidence of autoimmune diseases, and cerebro- and cardiovascular disease as well as health screening data and objective laboratory findings. Inconsistence with published studies, the results of this study suggest that the autoimmunity and metabolic disorder, and skeletal growth might not be associated with the onset of MD. Another well-designed study for other races will be needed to the generalization of this study results.

A top US official in the Pacific has warned that America would have to “respond” if the Solomon Islands allows China to establish a military base there.Following a “constructive and candid” 90-minute meeting with prime minister Manasseh Sogavare, ambassador Daniel Kritenbrink said that the security deals between China and the Solomon Islands present “potential regional security implications” for the US and other allies.“We wanted to outline for our friends in the Solomons what our concerns are,” Mr Kritenbrink, US assistant secretary for East Asian and Pacific Affairs, told reporters.“We have respect for the Solomon Islands’ sovereignty. But we also...

MILLIONS of Brits have been urged to take up a rapid test to see if they have bowel cancer. The Health Secretary has called on men over 60 to make sure they have the life-saving checkups. It couldn't be easier - with a home testing kit on offer, or use...

Sign up for the Fortune Features email list so you don’t miss our biggest features, exclusive interviews, and investigations. Shanghai’s 25 million residents have endured an extreme COVID lockdown for nearly a month—and now a new nightmarish topic is trending on Weibo, the country’s Twitter-like social media platform.

Tragic events like wars, famines, earthquakes, and accidents create fearful memories in our brain. These memories continue to haunt us even after the actual event has passed. Luckily, researchers from Tokyo University of Science (TUS) have recently been able to understand the hidden biochemical mechanisms involved in the selective suppression of fearful memories, which is called fear extinction. The researchers, who had previously demonstrated fear extinction in mice using the chemically synthesized compound "KNT-127," have now identified the underlying mechanism of this compound's action. Their findings have been published recently in Frontiers in Behavioral Neuroscience.

European Journal of Human Genetics (2022)Cite this article. Rapid advances in the genetics of psychiatric disorders mean that diagnostic and predictive genetic testing for schizophrenia risk may one day be a reality. This study examined how causal attributions for schizophrenia contribute to interest in a hypothetical genetic test. People with schizophrenia and first-degree relatives of people with schizophrenia were recruited through a schizophrenia research bank and mental health organisation. Semi-structured telephone interviews were conducted with 13 individuals with schizophrenia and 8 first-degree relatives. Transcripts were subjected to a qualitative analysis using the thematic analysis framework. Five themes were developed: (i) "It is like a cocktail", with most participants aware that both genetic and environmental factors contributed to causation, and many mentioning the positive impact of genetic causal explanations; (ii) "Knowledge is power" (i.e., in favour of genetic testing); (iii) Genetic testing provides opportunities for early intervention and avoiding triggers, with participants citing a wide range of perceived benefits of genetic testing but few risks; (iv) Views on reproductive genetic testing for schizophrenia risk with a few participants viewing it as "playing God" but not necessarily being against it; and (v) "It snowballs", whereby participants' understanding of genetics was sophisticated with most believing that multiple rather than single genes contributed to schizophrenia. In conclusion, many individuals had a sound understanding of the role of genetic testing if it were to become available, with evidence of insight into the role of multiple genes and the contribution of other risk factors that may interact with any inherited genetic risk.

European Journal of Human Genetics (2022)Cite this article. The Genetics service at Guy's hospital has dedicated in-house psychology provision aimed at supporting patients embarking on genetic testing through to coping with the aftermath of genetic diagnoses. This provision offers assessment and intervention within a brief 6-session therapy model and provides a range of therapeutic approaches. Patient satisfaction with the service is high and referral rates have greatly increased over the recent years. The Psychology Team also provides indirect support for patients as well as support for the Genetics Team such as contributing to MDT and informal case discussions, as well as teaching and training clinicians about psychological concepts. There are many advantages to having an embedded psychology service both for patients and genetics clinicians, such as good opportunities for liaising around referrals and conducting joint clinical sessions, as well as being easily able to identify psychological training needs. The service plans to further develop by offering group interventions and training opportunities to doctoral psychology trainees. We conclude that clinical psychologists can play a highly integral and essential role in the provision of psychosocial support for clinical genetics teams and provide an overview of the first such integrated clinical psychology service within clinical genetics in the United Kingdom.

Correction to: Translational Psychiatry https://doi.org/10.1038/s41398-021-01234-9, published online 04 February 2021. The original version of this article unfortunately contained a mistake. After the publication of the article the authors noticed that there is an error in an institution tag that needs to be corrected. For author Zhang Xiangyang institution tag 1 needs to be removed and the tags 6 and 7 that follow need to be retained. It should be corrected from "Zhang Xiangyang 1, 6, 7" to "Zhang Xiangyang 6, 7". The author apologize for the error. The original article has been corrected.

Digital services such as repositories and science gateways have become key resources for the neuroscience community, but users often have a hard time orienting themselves in the service landscape to find the best fit for their particular needs. INCF has developed a set of recommendations and associated criteria for choosing or setting up and running a repository or scientific gateway, intended for the neuroscience community, with a FAIR neuroscience perspective.

Correction to: Scientific Reports https://doi.org/10.1038/s41598-022-08791-z, published online 21 March 2022. The original version of this Article omitted an affiliation for Hiroyuki Miyahara. The correct affiliations are listed below. Department of Pediatrics, Okayama University Hospital, 2"‘5"‘1 Shikata"‘cho, Kita"‘ku, Okayama 700"‘8558, Japan. Department of Pediatrics, Okayama University...

We are providing an unedited version of this manuscript to give early access to its findings. Before final publication, the manuscript will undergo further editing. Please note there may be errors present which affect the content, and all legal disclaimers apply. Chronic infection with hepatitis B virus (HBV), affecting more...

European Journal of Human Genetics (2022)Cite this article. Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES interpretation thanks to a blindly reanalysis of postmortem ES data using prenatal data only in fetuses affected by MCA and harboring a (likely)pathogenic variant or a variant of unknown significance (VUS). Prenatal ES identified all causative variant previously reported by postmortem ES (22/24 (92%) and 2/24 (8%) using solo-ES and trio-ES respectively). Prenatal ES identified 5 VUS (in four fetuses). Two of them have been previously reported by postmortem ES. Prenatal ES were negative for four fetuses for which a VUS were diagnosed after autopsy. Our study suggests that prenatal phenotype is not a limitation for implementing pES in the prenatal assessment of unsolved MCA to personalize fetal medicine and could influence indication of postmortem examination.

Spinal cord stimulation (SCS) has been utilized for more than 50 years to treat refractory neuropathic pain. Currently, SCS systems with fully implantable pulse generators (IPGs) represent the standard. New wireless extracorporeal SCS (wSCS) devices without IPGs promise higher levels of comfort and convenience for patients. However, to date there are no studies on how charging and using this wSCS system affects patients and their therapy. This study is the first questionnaire-based survey on this topic focusing on patient experience. The trial was a single arm, open-label and mono-centric phase IV study. Standardized questionnaires were sent to all patients with a wSCS device in use at the time of trial. The primary endpoint was the convenience of the charging and wearing process scored on an ordinal scale from "very hard" (1) to "very easy" (5). Secondary endpoints included time needed for charging, the duration of stimulation per day and complication rates. Questionnaires of 6 out of 9 patients were returned and eligible for data analysis. The mean age of patients was 61.3"‰Â±"‰6.7 (±"‰SD) years. The duration of therapy was 20.3"‰Â±"‰15.9 months (mean"‰Â±"‰SD). The mean duration of daily stimulation was 17"‰Â±"‰5.9 h (mean"‰Â±"‰SD). n"‰="‰5 patients rated the overall convenience as "easy" (4) and n"‰="‰3 patients evaluated the effort of the charging process and wearing of the wSCS device as "low" (4). n"‰="‰5 patients considered the wearing and charging process as active participation in their therapy. n"‰="‰5 patients would choose an extracorporeal device again over a conventional SCS system. Early or late surgical complications did not occur in this patient collective. Overall, patients felt confident using extracorporeal wSCS devices without any complications. Effort to maintain therapy with this system was rated as low.

Mixed-methods, including expert consensus for initial development and a multi-center repeated measures design for field testing. To develop an International Spinal Cord Injury Basic Data Set for caregivers of individuals with spinal cord injury/disorder (SCI/D) for use in research and clinical care settings. Setting. International, multi-disciplinary working group with field...

We are providing an unedited version of this manuscript to give early access to its findings. Before final publication, the manuscript will undergo further editing. Please note there may be errors present which affect the content, and all legal disclaimers apply. Roughly 250 million people are infected with hepatitis B...

We are providing an unedited version of this manuscript to give early access to its findings. Before final publication, the manuscript will undergo further editing. Please note there may be errors present which affect the content, and all legal disclaimers apply. Abstract. Tuft cells are a rare chemosensory lineage that...