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Population-scale Analysis Reveals Germline Loss of SERPING1 (C1-Inhibitor) is a Polyphenotypic Thrombotic Disorder

Deficiency in C1 inhibitor (C1INH, SERPING1) is canonically associated with hereditary angioedema (HAE-C1INH) but not thrombosis. To determine the thrombosis risk conferred by loss of C1INH in the general population, we studied genetically-defined C1INH deficiency across 635,823 participants. Functionally deleterious germline coding variation in SERPING1 was rare (~1:10,000), indicating strong gen

Lexical transfer in second- and third language early vocabulary acquisition

Comparing lexical transfer in second- and third language early vocabulary acquisition The present study compared 30 functional English monolinguals and 30 highly proficient (CEFR C1+) Swedish–English bilinguals. They acquired vocabulary in a pseudo-language derived from typologically unrelated Finnish. None of the participants had productive proficiency in Finnish although for societal reasons the

DOGMA : de novo assembly of densely labelled optical DNA maps using a matrix profile approach

In optical genome mapping (OGM), large numbers of individual DNA maps—sequence-specific data series along single DNA molecules—are produced. Such individual maps have to be stitched together in a process called de novo OGM assembly in order to create consensus OGM maps for corresponding regions along the chromosomes. While there are several types of experimental OGM assays, not all of them have de

Effect of Plasma Air Purifiers on Infection Rates in Orthopedic Surgery

BACKGROUND Surgical site infection (SSI) following orthopedic surgery impacts patient outcomes. Airborne transmission is one potential route of infection. Despite their high cost and resource demands, modern ventilation systems have shown limited efficacy in reducing SSI rates. This trial investigated the effectiveness of a low-cost air purifier in reducing SSI rates after orthopedic surgery. METH

Parental Well-being in Pediatric Oncology in Sweden - Nationwide Evidence from the Swedish Registers

Despite the average 5-year survival rate exceeding 85%, childhood cancer is still the most common cause of disease-related death among children in Sweden. A cancer diagnosis is profoundly traumatic not only for children themselves, but also for the entire family, particularly the primary caregivers, their parents. This project aimed to investigate the extent to which a childhood cancer diagnosis a

The risk of revision using tourniquet or not in primary total knee replacement : an observational study from the Swedish Knee Arthroplasty Register

Background and purpose —The use of a tourniquet in knee replacement surgery is debated. Given the conflicting evidence, we aimed to compare the risk of revision after total knee replacements (TKR) with or without the use of tourniquet. Methods — In this register based observational study, we included the 5 most common cemented primary TKR models due to osteoarthritis reported to the Swedish Arthro

Suicide risk among urinary bladder cancer patients compared with the standard population : a nationwide study in Sweden

Objective: To assess the risk of suicide after a diagnosis of urinary bladder cancer (UBC) compared with the standard population and to identify potential risk factors and time dependence associated with suicide in patients with UBC. Method: We used data from the Bladder Cancer Data Base Sweden 2.0 (BladderBaSe), including all individuals aged 18 years or older, diagnosed with UBC between 1997 and

Effects of Advanced Trauma Life Support® training compared with standard care on adult trauma patient outcomes (ADVANCE TRAUMA): study protocol for a stepped-wedge cluster randomised trial

BackgroundAdvanced Trauma Life Support® (ATLS®) is the most widely adopted form of trauma life support training worldwide, but there is no high-quality evidence that it can improve patient outcomes. The aim of this trial is to compare the effects of ATLS® training with standard care on outcomes in adult trauma patients.MethodsADVANCE TRAUMA is a batched stepped-wedge cluster randomised controlled

Vacuum-Assisted Closure Significantly Reduces Surgical Postoperative Complications Compared With Primary Abdominal Closure in Patients With Secondary Peritonitis : A Comparative Retrospective Study

BACKGROUND: Vacuum-assisted abdominal closure (VAC) is being increasingly used as an adjunctive procedure in the surgical treatment of secondary peritonitis. This study compared postoperative mortality and complication rates between VAC and primary abdominal closure (PAC).METHOD: This retrospective chart review included all patients diagnosed with secondary peritonitis who underwent laparotomy bet

STPIS 2015: Socio-Technical Perspective in IS Development. Proceedings of the 1st International Workshop on Socio-Technical Perspective in IS Development (STPIS'15) co-located with the 27th International Conference on Advanced Information Systems Engineering (CAiSE 2015)

* This workshop’s long term goal is to foster a community of Information Systems researchers and practitioners who are interested in the socio-technical perspective and see it as an important approach to improve the quality and reduce the costs of the information systems that have become an essential part of our lives in this 21st century. All communities need meeting places where they can discuss

Relationship between somatic cell count and milk yield in different stages of lactation

The association between somatic cell count (SCC) and daily milk yield in different stages of lactation was investigated in cows free of clinical mastitis (CM). Data were recorded between 1989 and 2004 in a research herd, and consisted of weekly test-day (TD) records from 1,155 lactations of Swedish Holstein and Swedish Red cows. The main data set (data set A) containing 36,117 records excluded TD

Effects of cleaning spray use on eyes, airways, and ergonomic load

BACKGROUND: Cleaning workers are exposed to chemicals and high physical workload, commonly resulting in airway problems and pain. In this study the response in the upper airways and the physical workload following airborne and ergonomic exposure of cleaning spray was investigated.METHODS: A survey was answered by professional cleaning workers to investigate their use of cleaning sprays and the per

Multilevel modelling for measuring interaction of effects between multiple categorical variables : An illustrative application using risk factors for preeclampsia

Background: Measuring multiple and higher-order interaction effects between multiple categorical variables proves challenging. Objectives: To illustrate a multilevel modelling approach to studying complex interactions. Methods: We apply a two-level random-intercept linear regression to a binary outcome for individuals (level-1) nested within strata (level-2) defined by all observed combinations of

Real-World Safety and Efficacy Outcomes with Abiraterone Acetate Plus Prednisone or Prednisolone as the First- or Second-Line Treatment for Metastatic Castration-Resistant Prostate Cancer : Data from the Prostate Cancer Registry

Background: Despite standard-of-care androgen-deprivation therapy and an increasing number of treatment options, the mortality rate for prostate cancer remains high. Progress to metastatic castration-resistant prostate cancer (mCRPC) necessitates additional treatments. Abiraterone acetate plus prednisone or prednisolone (AAP) prolongs survival in chemotherapy-naive and docetaxel-experienced patien

Brachytherapy for Pediatric Patients at Gustave Roussy Cancer Campus : A Model of International Cooperation for Highly Specialized Treatments

Purpose: Childhood cancer is rare, and treatment is frequently associated with long-term morbidity. Disparities in survival and long-term side effects encourage the establishment of networks to increase access to complex organ-conservative strategies, such as brachytherapy. We report our experience of an international cooperation model in childhood cancers. Methods and Materials: We examined the o

The association between preexisting conditions and osteoarthritis development in peripheral joints: A population based nested case-control study

AimTo study the risk of receiving a new (incident) osteoarthritis (OA) diagnosis in different joint sites based on conditions diagnosed in the 20 years prior the OA diagnosis.MethodsWe used register data for the entire population of the Skåne region (Sweden) to perform a nested case-control study. The outcome was newly diagnosed (incident) OA in peripheral joints, i.e. knee (ICD-10 code M17), hip

Time for a (Minority) Tax Cut : Examining the Responsibilities Faced by Women and Minorities Fostering Inclusivity in Orthopaedics

Background: The existence of a “minority tax,” defined as the burden of extra responsibilities placed on minorities relative to non-minorities of the same position, has been documented across various fields, including and beyond medicine. This study sought to quantify the types and extent of the minority tax faced by minority orthopaedic surgeons, as well as evaluate the degree to which this work

XeroGraph: enhancing data integrity in the presence of missing values with statistical and predictive analysis

MOTIVATION: Missing data present a pervasive challenge in data analysis, potentially biasing outcomes and undermining conclusions if not addressed properly. Missing data are commonly classified into Missing Completely at Random (MCAR), Missing at Random (MAR), and Missing Not at Random (MNAR). While MCAR poses a minimal risk of data distortion, both MAR and MNAR can seriously affect the results of

Recording of non-musculoskeletal manifestations, comorbidities and safety outcomes in European spondyloarthritis registries : A survey

Objectives: Real-world evidence is needed to inform treatment strategies for patients with PsA and axial SpA (axSpA) who have non-musculoskeletal manifestations (NMMs), various risk factors and comorbidities. International collaboration is required to ensure statistical power and to enhance generalizability. The first step forward is identifying which data are currently being collected. Across 17

Determining the effect of frailty on survival in advanced ovarian cancer: study protocol for a prospective multicentre national cohort study (FOLERO)

Background and purpose: There is an urgent need to improve patient-selection to surgical treatment in advanced ovarian cancer as our results showed that cytoreductive surgery was without effect or even detrimental in a yet unknown subgroup of women. With an ageing population, 30% of women with advanced ovarian cancer in Sweden are >75 years. Nevertheless, there are no recommendations on patient-se