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Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other retinal dystrophies, and in particular from the more frequent disease retinitis pigmentosa, because cone photoreceptors degenerate at a higher rate than rod photoreceptors, causing s

Unilateral varus osteotomy of the proximal femur in children with cerebral palsy : a five-year follow-up of the development of both hips

BACKGROUND: Varus osteotomy of the proximal femur (VOPF) is one treatment option to prevent hip dislocation in children with cerebral palsy (CP). It is questioned whether the osteotomy should be performed in the displaced hip only, or if it should be performed bilaterally to prevent later displacement of the contralateral hip. CPUP is a register and healthcare programme for children with CP that w

Can increased weathering rates due to future warming compensate for base cation losses following whole-tree harvesting in spruce forests?

Whole-tree harvesting, i.e. harvesting of stems, branches and tops, has become increasingly common during recent decades due to the increased demand for renewable energy. Whole-tree harvesting leads to an increase in base cation losses from the ecosystem, which can counteract recovery from acidification. An increase in weathering rates due to higher temperatures is sometimes suggested as a process

AI and Patients’ Rights : Transparency and information flows as situated principles in public health care

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

Copeptin as a marker of atherosclerosis and arteriosclerosis

Background and aims: The precursor peptide of vasopressin, copeptin, has previously been linked to increased risk of developing diabetes mellitus, coronary artery disease and cardiovascular mortality. Whether elevated copeptin is associated with markers of atherosclerosis and arteriosclerosis in the general population is not known. Methods: In this population-based, cross-sectional study, coronary

A prospective study of the relationships between movement and glycemic control during day and night in pregnancy

Both disturbed sleep and lack of exercise can disrupt metabolism in pregnancy. Accelerometery was used to objectively assess movement during waking (physical activity) and movement during sleeping (sleep disturbance) periods and evaluated relationships with continuous blood glucose variation during pregnancy. Data was analysed prospectively. 15-women without pre-existing diabetes mellitus wore con

PR interval prolongation and 1-year mortality among emergency department patients : A multicentre transnational cohort study

Objectives Emerging evidence supports that PR interval prolongation is associated with increased mortality. However, most previous studies have limited confounder control, and clinical impact in a population of acute ill patients is unknown. The aim of this study was to investigate whether 1-year all-cause mortality was increased in patients presenting with PR interval prolongation in the emergenc

Postoperative non-steroidal anti-inflammatory drug use and oncological outcomes of rectal cancer

BACKGROUND: Non-steroidal anti-inflammatory drugs (NSAIDs) are known to suppress the inflammatory response after surgery and are often used for pain control. This study aimed to investigate NSAID use after radical surgical resection for rectal cancer and long-term oncological outcomes. METHODS: A cohort of patients who underwent anterior resection for rectal cancer between 2007 and 2013 in 15 hosp

Survival after radical cystectomy during holiday periods

Objective: For patients undergoing radical cystectomy for bladder cancer, a procedure requiring complex urinary tract reconstruction prone to major postoperative complications, the timing and quality of the surgery have been associated with outcomes. Patients and methods: This study investigated if radical cystectomy for bladder cancer performed during holiday periods had worse disease-specific (D

Symptoms and syndromes associated with SARS-CoV-2 infection and severity in pregnant women from two community cohorts

We tested whether pregnant and non-pregnant women differ in COVID-19 symptom profile and severity, and we extended previous investigations on hospitalized pregnant women to those who did not require hospitalization. Two female community-based cohorts (18–44 years) provided longitudinal (smartphone application, N = 1,170,315, n = 79 pregnant tested positive) and cross-sectional (web-based survey, N

Native language experience shapes pre-attentive foreign tone processing and guides rapid memory trace build-up : An ERP study

Language experience, particularly from our native language (L1), shapes our perception of other languages around us. The present study examined how L1 experience moulds the initial processing of foreign (L2) tone during acquisition. In particular, we investigated whether learners were able to rapidly forge new neural memory traces for novel tonal words, which was tracked by recording learners’ ERP

A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias

Background: Whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS), with the ability to provide comprehensive genomic information, have become the focal point of research interest as novel techniques that can support precision diagnostics in routine clinical care of patients with various cancer types, including hematological malignancies. This national multi-center study, led by Ge

The effect of patient and prosthesis factors on revision rates after total knee replacement using a multi-registry meta-analytic approach

BACKGROUND AND PURPOSE: Characteristics of patients receiving total knee arthroplasty (TKA) and prostheses used vary between regions and change with time. How these practice variations influence revision remains unclear. We combined registry data for better understanding of the impact of variation, which could potentially improve revision rates. PATIENTS AND METHODS: We used data from 2003 to 2019

Differences in genetic risk score profiles for drug use disorder, major depression, and ADHD as a function of sex, age at onset, recurrence, mode of ascertainment, and treatment

Do genetic risk profiles for drug use disorder (DUD), major depression (MD), and attention-deficit hyperactivity disorder (ADHD) differ substantially as a function of sex, age at onset (AAO), recurrence, mode of ascertainment, and treatment? Methods Family genetic risk scores (FGRS) for MD, anxiety disorders, bipolar disorder, schizophrenia, alcohol use disorder, DUD, ADHD, and autism-spectrum dis

Symptom Dimension Breakpoints for the Obsessive-Compulsive Inventory-Child Version (OCI-CV)

Pediatric obsessive-compulsive disorder (OCD) clusters around three major symptom dimensions: contamination/cleaning, symmetry/ordering, and disturbing thoughts/checking. The Obsessive-Compulsive Inventory-Child Version (OCI-CV) is a self-report questionnaire that provides scores along six theory-based OCD dimensions, but no study has evaluated how well OCI-CV identifies clinically significant sym

The potential of Swetra - A multilanguage MT system

One may indicate the potentials of an MT system by stating what text genres it can process, e.g., weather reports and technical manuals. This approach is practical, but misleading, unless domain knowledge is highly integrated in the system. Another way to indicate which fragments of language the system can process is to state its grammatical potentials, or more formally, which languages the gramma

Modals as a problem for MT

The paper demonstrates the problem of translating modal verbs and phrases and shows how some of these problems can be overcome by choosing semantic representations which look like representations of passive verbs. These semantic representations suit alternative ways of expressing modality by e.g. passive constructions, adverbs and impersonal constructions in the target language. Various restructur

Sense of coherence and changes over six years among older adults aging with long-term spinal cord injury

Study design: Cross-sectional and longitudinal. Objectives: To (i) describe sense of coherence (SOC) and changes over six years in older adults aging with long-term spinal cord injury (SCI) and (ii) investigate how changes in SOC are associated with injury characteristics and changes in sociodemographics and secondary health conditions (SHCs; bowel-related and bladder-related problems, pain and sp