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Background Patients with gastrointestinal neuromuscular diseases may undergo operative procedures that yield tissue appropriate to diagnosis of underlying neuromuscular pathology. Critical to accurate diagnosis is the determination of limits of normality based on the study of control human tissues. Although robust diagnostic criteria exist for many qualitative alterations in the neuromuscular appa

Background In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL)

Background: Newborn screening (NBS) for long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency does not discriminate between isolated LCHAD deficiency, isolated long-chain keto acyl-CoA (LCKAT) deficiency and general mitochondrial trifunctional protein (MTP) deficiency. Therefore, screening for LCHAD deficiency inevitably comprises screening for MTP deficiency, which is much less amenable

The response rate to checkpoint inhibitors for women with high-grade serous carcinoma of the ovary, fallopian tube, and peritoneum (HGSC) is modest, and development of predictive biomarkers is needed. The main focus has been on tumor cell PD-L1 expression, but its assessment alone is insufficient for patient selection in most malignancies. We mapped the presence of macrophages (CD68 and CD163) and

Agrobiodiversity—the variation within agricultural plants, animals, and practices—is often suggested as a way to mitigate the negative impacts of climate change on crops [S. A. Wood et al., Trends Ecol. Evol. 30, 531–539 (2015)]. Recently, increasing research and attention has focused on exploiting the intraspecific genetic variation within a crop [Hajjar et al., Agric. Ecosyst. Environ. 123, 261–

We enrolled 427 human immunodeficiency virus-infected children (median age, 7.3 years), 59.2% severely immunodeficient, with suspected tuberculosis in Southeast Asian and African settings. Nontuberculous mycobacteria were isolated in 46 children (10.8%); 45.7% of isolates were Mycobacterium avium complex. Southeast Asian origin, age 5-9 years, and severe immunodeficiency were independently associa

Background: Benchmarking on an international level might lead to improved outcomes at a national level. The aim of this study was to compare treatment and surgical outcome data from the Swedish National Register for Oesophageal and Gastric Cancer (NREV) and the Dutch Upper Gastrointestinal Cancer Audit (DUCA).Methods: All patients with primary oesophageal or gastric cancer who underwent a resectio

BACKGROUND: Although growing evidence suggests that early-life excess manganese (Mn) impairs neurodevelopment, data on the neurodevelopmental effects of mancozeb, a fungicide containing Mn, and its main metabolite ethylenethiourea (ETU) are limited. OBJECTIVE: We examined whether prenatal mancozeb exposure and excess Mn were associated with neurodevelopment in 355 1-y-old infants living near banan

Objective: Diabetic foot ulceration (DFU) has the potential to deteriorate rapidly without prompt assessment and treatment. The aim of this study was to assess the referral patterns for DFU, from primary care to specialised diabetes foot care units. Method: A two-part, quantitative, online questionnaire was administered to GPs across four countries in Europe: France, the UK, Germany and Spain. The

Presence of perivascular neuroblastoma cells with high expression of hypoxia inducible factor (HIF)-2α correlates with distant metastasis and aggressive disease. Regulation of HIFs are traditionally considered to occur post-translationally, but we have recently shown that HIF-2α is unconventionally regulated also at the transcriptional level in neuroblastoma cells. Regulatory factors binding direc

Eight different generations of dolerite dykes crosscutting the Paleoproterozoic basement in West Africa and one in South America were dated using the high precision U–Pb TIMS method on baddeleyite. Some of the individual dykes reach over 300Â km in length and they are considered parts of much larger systems of mafic dyke swarms representing the plumbing systems for large igneous provinces (LIPs).

Eye contact is essential for human interactions. We investigated whether humans are able to avoid eye contact while navigating crowds. At a science festival, we fitted 62 participants with a wearable eye tracker and instructed them to walk a route. Half of the participants were further instructed to avoid eye contact. We report that humans can flexibly allocate their gaze while navigating crowds a

Human complement component C4b-binding protein (C4BP) is composed of seven alpha-chains and one beta-chain. The alpha- and beta-chains are homologous and both contain multiple copies of short consensus repeats (SCR) and in addition carboxyl-terminal non-repeat regions. Each of the alpha-chains contains a binding site for C4b, whereas the beta-chain binds protein S, a vitamin K-dependent protein in

The ISSCR has developed the Informed Consent Standards for Human Fetal Tissue Donation and Research to promote uniformity and transparency in tissue donation and collection. This standard is designed to assist those working with and overseeing the regulation of such tissue and reassure the wider community and public.

The global movement of bees for agricultural pollination services can affect local pollinator populations via hybridization. When commercial bumblebees are of the same species but of different geographic origin, intraspecific hybridization may result in beneficial integration of new genetic variation, or alternatively may disrupt locally adapted gene complexes. However, neither the existence nor t

Testosterone is a hormone that plays a key role in carbohydrate, fat, and protein metabolism. Testosterone deficiency is associated with multiple comorbidities, e.g., metabolic syndrome and type 2 diabetes. Despite its importance in many metabolic pathways, the mechanisms by which it controls metabolism are not fully understood. The present study investigated the short-term metabolic changes of ph

Research on the impacts of COVID-19 on mobility has focused primarily on the increased health vulnerabilities of involuntary migrant and displaced populations. But virtually all migration flows have been truncated and altered because of reduced economic and mobility opportunities of migrants. Here we use a well-established framework of migration decision-making, whereby individual decisions combin

BACKGROUND: The purpose of this study was to prospectively investigate the incidence of influenza-associated pulmonary aspergillosis (IAPA) in influenza patients admitted to intensive care units in Sweden.METHODS: The study included consecutive adult patients with PCR-verified influenza A or B in 12 Swedish intensive care units (ICUs) over four influenza seasons (2019-2023). Patients were screened

Rare Earth (RE) ion doped nanomaterials are promising candidates for a range of quantum technology applications. Among RE ions, the so-called Kramers' ions possess spin transitions in the GHz range at low magnetic fields, which allows for high-bandwidth multimode quantum storage, fast qubit operations as well as interfacing with superconducting circuits. They also present relevant optical transiti