Publications by authors named "Rothwell S"

Objective: Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.

View Article and Find Full Text PDF

Background: Autoantibodies are found in up to 80 % of patients with idiopathic inflammatory myopathies (IIM) and are associated with distinct clinical phenotypes. Autoantibodies targeting cytosolic 5'-nucleotidase 1A (anti-NT5C1A) are currently the only known serum biomarker for the subgroup inclusion body myositis (IBM), although detected even in other autoimmune diseases. The aim of the study was to identify new autoimmune targets in IIM.

View Article and Find Full Text PDF

Study Design: Retrospective review.

Objective: To use opportunistic computed tomography (CT) screening to determine the prevalence of osteoporosis (OP) in patients presenting with spinal fractures and the rate of identification and treatment at our institution.

Background: OP remains a highly underdiagnosed and undertreated disease.

View Article and Find Full Text PDF
Article Synopsis
  • Phosphorus pollution in freshwater poses a significant threat to water quality and aquatic life, primarily driven by agriculture and wastewater management.
  • A study in the River Stour catchment of Dorset, England, used Substance Flow Analysis to measure phosphorus input pressures from agricultural practices and human activities, showing that agricultural phosphorus inputs depend largely on livestock feed imports and human populations.
  • To improve water quality, the study suggests enhancing wastewater phosphorus removal and reducing excess agricultural phosphorus, indicating that addressing agricultural surplus could significantly lower river phosphorus concentrations, although it would still exceed ideal levels for controlling eutrophication.
View Article and Find Full Text PDF

Background: Underdiagnosis or undertreatment of osteoporosis consequently impacts individual morbidity and mortality, as well as on healthcare systems and communities as a whole. Dual-energy x-ray absorptiometry (DXA) is the gold standard method for identifying osteoporosis, however, opportunistic CT screening is capable of precisely estimating bone mineral density (BMD) in abdominopelvic imaging with no additional cost, radiation exposure or inconvenience to patients. This study uses opportunistic CT screening to determine the prevalence of osteoporosis and anatomic distribution patterns in patients presenting with lower extremity fractures at our institution.

View Article and Find Full Text PDF
Article Synopsis
  • Genome-wide association studies (GWASs) are effective in linking genetic variants to various human traits and diseases, but they often require large sample sizes, making it tough to study rarer diseases like myositis, which severely affect patients' quality of life.
  • The researchers used a feature engineering method to leverage data from larger IMD GWASs, discovering 17 immune-mediated diseases genetically related to myositis, including conditions like systemic sclerosis and Sjögren's syndrome.
  • They identified seven potential new genetic links to myositis, hinting that immune system genes may play a role in the disease, and suggest this method could enhance genetic research in other rare conditions as well.
View Article and Find Full Text PDF

Background: In patients with idiopathic inflammatory myopathies (IIM), autoantibodies are associated with specific clinical phenotypes suggesting a pathogenic role of adaptive immunity. We explored if autoantibody profiles are associated with specific HLA genetic variants and clinical manifestations in IIM.

Methods: We included 1348 IIM patients and determined the occurrence of 14 myositis-specific or -associated autoantibodies.

View Article and Find Full Text PDF

Chilling can decrease stomatal sensitivity to abscisic acid (ABA) in some legumes, although hormonal mechanisms involved are unclear. After evaluating leaf gas exchange of 16 European soybean genotypes at 14°C, 6 genotypes representing the range of response were selected. Further experiments combined low (L, 14°C) and high (H, 24°C) temperature exposure from sowing until the unifoliate leaf was visible and L or H temperature until full leaf expansion, to impose four temperature treatments: LL, LH, HL, and HH.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates idiopathic inflammatory myopathies (IIMs), focusing on identifying genetic variants linked to the condition using a large dataset from the Myositis Genetics Consortium (MYOGEN).
  • Analyzed over 2,500 IIM patient samples alongside 10,000 control samples, the research confirmed HLA regions as significant and discovered four non-HLA genetic regions related to IIM, including two novel associations, SDK2 and LINC00924.
  • The findings highlight the involvement of genetic factors in IIMs and suggest potential links to other autoimmune diseases, indicating promising areas for further research into disease mechanisms and potential therapies.
View Article and Find Full Text PDF

Objective The harmful use of alcohol is a global issue. This study aimed to describe and compare the profiles, emergency department (ED) clinical characteristics, and outcomes of alcohol-related ED presentations (ARPs) and non-alcohol-related ED presentations (NARPs). Methods A multi-site observational study of all presentations to four EDs between 4 April 2016 and 31 August 2017, was conducted.

View Article and Find Full Text PDF

Sleep disturbances are common among disorders associated with hypothalamic pituitary-adrenal (HPA) axis dysfunction, such as depression and anxiety. This comorbidity may partly be the result of the intersection between the role of the HPA axis in mediating the stress response and its involvement in sleep-wake cyclicity. Our previous work has shown that following 20 h of sleep restriction, mice show a blunting of the HPA axis in response to an acute stressor.

View Article and Find Full Text PDF
Article Synopsis
  • Idiopathic inflammatory myopathies (IIM) are autoimmune diseases causing muscle and skin inflammation, leading to symptoms like chronic weakness and fatigue, with complement-mediated destruction involved in their pathology.
  • A study analyzed gene copy number variations in 1644 IIM patients and 3526 healthy controls, finding low GCNs and complement deficiencies significantly increased the risk of IIM.
  • Results indicated that complement deficiency is particularly relevant in cases of dermatomyositis and polymyositis, while a specific gene was linked to a high risk of inclusion body myositis (IBM).
View Article and Find Full Text PDF

Food systems worldwide are vulnerable to Phosphorus (P) supply disruptions and price fluctuations. Current P use is also highly inefficient, generating large surpluses and pollution. Global food security and aquatic ecosystems are in jeopardy if transformative action is not taken.

View Article and Find Full Text PDF

The UK food system is reliant on imported phosphorus (P) to meet food production demand, though inefficient use and poor stewardship means P is currently accumulating in agricultural soils, wasted or lost with detrimental impacts on aquatic environments. This study presents the results of a detailed P Substance Flow Analysis for the UK food system in 2018, developed in collaboration with industry and government, with the key objective of highlighting priority areas for system interventions to improve the sustainability and resilience of P use in the UK food system. In 2018 the UK food system imported 174.

View Article and Find Full Text PDF

Objective: We undertook this study to examine the X chromosome complement in participants with systemic sclerosis (SSc) as well as idiopathic inflammatory myopathies.

Methods: The participants met classification criteria for the diseases. All participants underwent single-nucleotide polymorphism typing.

View Article and Find Full Text PDF

Objective: Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of complex autoimmune conditions characterized by inflammation in skeletal muscle and extramuscular compartments, and interferon (IFN) system activation. We undertook this study to examine the contribution of genetic variation to disease susceptibility and to identify novel avenues for research in IIMs.

Methods: Targeted DNA sequencing was used to mine coding and potentially regulatory single nucleotide variants from ~1,900 immune-related genes in a Scandinavian case-control cohort of 454 IIM patients and 1,024 healthy controls.

View Article and Find Full Text PDF

Current use and management of phosphorus (P) in our food systems is considered unsustainable and considerable improvements in the efficiency of P use are required to mitigate the environmental impact of poor P stewardship. The inherent low P use efficiency of food production from animals means food systems dominated by livestock agriculture can pose unique challenges for improving P management. This paper presents the results of a substance flow analysis for P in the Northern Ireland (NI) food system for the year 2017 as a case study for examining P stewardship in a livestock dominated agricultural system.

View Article and Find Full Text PDF

Breast Cancer is the most common form of cancer in women worldwide, impacting nearly 2.1 million women each year. Identification of new biomarkers could be key for early diagnosis and detection.

View Article and Find Full Text PDF

Case: A 69-year-old woman with a history of breast cancer, on long-term antiresorptive medications, was treated with carbon fiber cephalomedullary nails for bilateral atypical femur fractures. Her thigh pain was presumed to be from metastatic lesions and was treated with radiation without standard imaging. The index procedure was complicated by a left nail fracture.

View Article and Find Full Text PDF

Sustainable approaches to rice cultivation that apply less irrigation and chemical fertilisers are required to increase crop resource use efficiency. Although alternate wetting and drying (AWD) has been widely promoted as a water-saving irrigation technique, its interactions with phosphorus (P) nutrition have attracted little attention. Vegetative rice plants were grown with two phosphorus levels, fertilised (HP) or un-fertilised (LP), and either continuous flooding (CF) or AWD irrigation.

View Article and Find Full Text PDF

Background: Security interventions in aggressive and violent patients in the emergency department (ED) are not always documented in the clinical record, which can compromise the effectiveness of communication, and increase clinical risks.

Local Problem: Fewer than half of all security interventions are documented in the clinical record.

Methods: The study had a pre- and posttest design including a retrospective audit of patient medical records and a staff survey.

View Article and Find Full Text PDF