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Mice homozygous for the human GRACILE syndrome mutation (Bcs1lc.A232G) display decreased respiratory chain complex III activity, liver dysfunction, hypoglycemia, rapid loss of white adipose tissue and early death. To assess the underlying mechanism of the lipodystrophy in homozygous mice (Bcs1lp.S78G), these and wild-type control mice were subjected to a short 4-hour fast. The homozygotes had low

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The structure of neutron-rich Sr96,98 nuclei was investigated by low-energy safe Coulomb excitation of radioactive beams at the REX-ISOLDE facility, CERN, with the MINIBALL spectrometer. A rich set of transitional and diagonal E2 matrix elements, including those for non-yrast structures, has been extracted from the differential Coulomb-excitation cross sections. The results support the scenario of

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The technique of intensity interferometry is proposed as a probe of the spatial configuration of two-Neutron haloes. After exploring the sensitivity of interferometry to the n-N configuration, it is demonstrated that the application of the standard method for constructing the correlation function is not valid for halo neutrons. A new iterative method is presented and applied to measurements of the

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Microfluidic techniques were applied to the separation of parasite and parasite-infected cells from blood to facilitate the detection of leishmaniasis, a disease representing a high burden in the developing world and for which new diagnostic tools are urgently needed. Leishmania mexicana promastigotes were successfully separated from red blood cells in a deterministic lateral displacement device.

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Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly ex

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In 2014 a small fire started in a forest in central Sweden. Within a few days it developed into the largest wildfire in Sweden in the last 50 years. As the scale of the fire increased, so did the need for direction and coordination of the resources engaged in the response operation. Both official investigators and the research community have studied the challenges and come up with recommendations

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Clinical outcome data of patients discharged after Coronavirus disease 2019 (COVID-19) are limited and no study has evaluated predictors of cardiovascular prognosis in this setting. Our aim was to assess short-term mortality and cardiovascular outcome after hospitalization for COVID-19. A prospective cohort of 296 consecutive patients discharged after COVID-19 from two Italian institutions during

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BACKGROUND: Treatment of newly diagnosed advanced-stage ovarian cancer typically involves cytoreductive surgery and systemic chemotherapy. We conducted a trial to investigate whether the addition of hyperthermic intraperitoneal chemotherapy (HIPEC) to interval cytoreductive surgery would improve outcomes among patients who were receiving neoadjuvant chemotherapy for stage III epithelial ovarian ca

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Research on the efficacy of hypnosis applications continues to grow, but there remain major gaps between the science and clinical practice. One challenge has been a lack of consensus on which applications of hypnosis are efficacious based on research evidence. In 2018, 6 major hypnosis organizations collaborated to form the Task Force for Establishing Efficacy Standards for Clinical Hypnosis. This

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Background: Diagnosis of contact allergy (CA) to Amerchol L-101 (AL-101), a marker for lanolin allergy, is problematic. Positive patch-test reactions are frequently doubtful or weakly positive and difficult to associate with clinical relevance. Objective: To gain further insight on the allergic or irritant nature of skin reactions induced by AL-101 patch test. Methods: We re-tested in a dose–respo

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GPR30, or G protein-coupled estrogen receptor (GPER), is a G protein-coupled receptor (GPCR) that is currently attracting considerable attention in breast cancer and cardiometabolic regulation. The receptor was reported to be a novel membrane estrogen receptor mediating rapid non-genomic responses. However, questions remain about both the cognate ligand and the subcellular localization of receptor

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Tau neuronal and glial pathologies drive the clinical presentation of Alzheimer's disease and related human tauopathies. There is a growing body of evidence indicating that pathological tau species can travel from cell to cell and spread the pathology through the brain. Throughout the last decade, physiological and pathological tau have become attractive targets for AD therapies. Several therapeut

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Background Risk factors included in the cardiovascular (CHA2DS2‐VASc) score, currently used for atrial fibrillation (AF), may predispose to cardiovascular events whether or not AF is present. The aim was to explore the predictive role of CHA2DS2‐VASc score on cardiovascular outcomes in diabetic patients without AF. Methods We accessed individual data from 610 diabetic patients without AF at baseli

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The function of astrocytes intertwines with the extracellular matrix, whose neuron and glial cell-derived components shape neuronal plasticity. Astrocyte abnormalities have been reported in the brain of the mouse model for fragile X syndrome (FXS), the most common cause of inherited intellectual disability, and a monogenic cause of autism spectrum disorder. We compared human FXS and control astroc

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Användningen av artificiell intelligens (AI), det vill säga en rad primärt databeroende metoder och teknologier för bland annat prediktion och automation, tycks bidra till en omvälvande period i den offentliga förvaltningen. Detta skifte föranleder ett styrningsbehov, ofta kopplat till tillitsfrågor, vilket i en internationell kontext inte minst syns i en stor mängd etiska riktlinjer och principie

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The development of artificial intelligence (AI) for medicine and health care is rapidly evolving. However, the automation, scale and data dependency of AI-driven decision-making and decision-support calls for a reassessment of principal ethical and legal norms of transparency, in the light of these novel methodologies. The quality of AI-driven health care, we argue, is depending on it. In this cha

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Introduction A second peak of inhibitors has been reported in patients with severe hemophilia A (HA) aged >50 years in the United Kingdom. The reason for this suggested breakdown of tolerance in the aging population is unclear, as is the potential impact of regular exposure to the deficient factor by prophylaxis at higher age. No data on hemophilia B (HB) have ever been reported. Aim The ADVANCE W

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Global climate change is projected to lead to an increase in both the areal extent and degree of aridity in the world’s drylands. At the same time, the majority of drylands are located in developing countries where high population densities and rapid population growth place additional pressure on the ecosystem. Thus, drylands are particularly vulnerable to environmental changes and large-scale env

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SAMHD1 degrades deoxyribonucleoside triphosphates (dNTPs), the building blocks of DNA. Davenne et al. find that SAMHD1 protects cells against dNTP imbalances. Exposure of SAMHD1-deficient cells to deoxyguanosine (dG) results in increased intracellular dGTP levels and subsequent apoptosis. This can be exploited to selectively kill cancer cells that acquired SAMHD1 mutations.