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Purpose: TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously identified. In addition, we describe retinal function and structure in two other siblings with the

BACKGROUND: Surgical site infection (SSI) represents almost 40% of nosocomial infections. Risk for SSI is most prominent following colorectal surgery. There is no Swedish standard SSI classification or surveillance. We have failed to find validation of SSI surveillance programs presently in use. This study investigates SSI registration routines at Halmstad County Hospital, Sweden (HCH) as well as

Background and purpose: The CardioSwitch-study demonstrated that patients with solid tumors who develop cardiotoxicity on capecitabine or 5-fluorouracil (5-FU) treatment can be safely switched to S-1, an alternative fluoropyrimidine (FP). In light of the European Medicines Agency approval of S-1 in metastatic colorectal cancer (mCRC), this analysis provides more detailed safety and efficacy inform

The study aimed to investigate if primary health care centers (PHCCs) offering nurse-managed hypertensive care differ from PHCCs with other types of hypertension care regarding blood pressure levels and other key indicators. In this cross-sectional study of the hypertension care given in PHCCs in Stockholm County (now called Region Stockholm), we included all 227 PHCCs in the region. To assess the

Background: Patients in the forensic mental health services (FMHS) with a mental disorder, a co-occurring substance use disorder (SUD), and high risk of aggressive antisocial behavior (AAB) are sometimes referred to as the ‘triply troubled’. They suffer poor treatment outcomes, high rates of criminal recidivism, and increased risk of drug related mortality. To improve treatment for this heterogene

Many biopharmaceuticals (BPs) are known to be immunogenic in the clinic, which can result in modified pharmacokinetics, reduced efficacy, allergic reactions and anaphylaxis. During recent years, several technologies to predict immunogenicity have been introduced, but the predictive value is still considered low. Thus, there is an unmet medical need for optimization of such technologies. The genera

Aims The aim of this study was to investigate the incidence, risk factors, and outcome of venous thromboembolism (VTE) following anterior cruciate ligament (ACL) reconstruction in a nationwide cohort. Patients and Methods All ACL reconstructions, primary and revision, that were recorded in the Swedish Knee Ligament Register (SKLR) between 2006 and 2013 were linked with data from the Swedish Nation

The WHO/UNICEF Joint Monitoring Program (JMP) for Water Supply, Sanitation and Hygiene (WASH) produces global estimates of the real situation of access to water, sanitation and hygiene services, and sanitation and hygiene in households, educational institutes and health care facilities; however it is lacking data on schools in Kazakhstan. Thus, the aim of this research was to assess access to WASH

Background and purpose: To determine the prevalence of vertebral hemangiomas (VHs), establish a new classification of VHs based on their MRI-signal pattern, and study their natural history. Methods: MRI of 1000 consecutive patients who underwent at least two MRI with an interval of at least 3 years. Growth rate and change of MRI-signal pattern during the follow-up period were the parameters includ

Background: There is a current fashion for the use of methacrylate-containing nail cosmetics that can induce allergic contact dermatitis. European Union (EU) legislation was introduced in 2021 that had the aim of preventing its development. Objectives: To assess prevalence and exposures causing contact allergy to 2-hydroxyethyl methacrylate (HEMA) prior to and following implementation of the legis

Objective: We investigated differences in somatosensory profiles (SSPs) assessed by quantitative sensory testing in children and adolescents with cerebral palsy (CCP) with and without chronic pain and compared these differences to those in a group of typically developed children and adolescents (TDC) with and without chronic pain. Method: All included subjects were consecutively recruited from and

Neurodegenerative dementia, most frequently represented by Alzheimer's disease (AD) and dementia with Lewy bodies (DLB), is often accompanied by altered sleeping patterns and excessive daytime sleepiness. Studies showing an association between the neuropeptide orexin and AD/DLB-related processes such as amyloid-β (Aβ)1-42 plaque formation, α-synuclein accumulation, and inflammation indicate that o

For many patients with von Willebrand disease (VWD), the replacement therapy with von Willebrand factor (VWF)/factor VIII (FVIII) concentrates is the treatment of choice. To evaluate clinical efficacy, safety and tolerability of Wilate, an albumin-free VWF/FVIII concentrate with a ratio of the two haemostatic moieties of approximately 1 to 1, a prospective clinical programme has been designed. The

Background: Several indirect calorimetry (IC) instruments are commercially available, but comparative validity and reliability data are lacking. Existing data are limited by inconsistencies in protocols, subject characteristics, or single-instrument validation comparisons. The aim of this study was to compare accuracy and reliability of metabolic carts using methanol combustion as the cross-labora

Succinic acid production from the monosaccharides xylose, arabinose, glucose, mannose and galactose was studied using the bacterium Actinobacillus succinogenes. In Duran bottle cultures, containing 10 g/L of each of sugar, succinic acid was produced from all sugars except for galactose. The highest succinate yield, 0.56 g/g, was obtained with glucose, whereas the succinate yield was 0.42, 0.38 and

Introduction: Elderly patients with displaced femoral neck fractures (FNF) are usually operated with arthroplasty but with various combinations of implants and approaches. Thus, the optimal treatment is still controversial. We aimed to compare the results between the cemented bipolar hemiarthroplasty (HA) and total hip arthroplasty (THA) patients operated for FNF regarding revision rate at 1 year

Purpose: To present data from an interim analysis of a Phase II trial designed to determine the feasibility, safety, and efficacy of individualising treatment based on renal dosimetry, by giving as many cycles as possible within a maximum renal biologically effective dose (BED). Method: Treatment was given with repeated cycles of 7.4 GBq 177Lu-DOTATATE at 8-12-week intervals. Detailed dosimetry wa

Background: With the increased number of cancer survivors, it is necessary to explore the effect of cancer and its treatments on pregnancy outcomes, such as preterm birth, which seriously endangers the health of offspring. We aimed to explore the risk of being born preterm among offspring of cancer survivors. Materials and Methods: This is a retrospective cohort study. All singleton live births be

Introduction: The aim of this study was to evaluate the construct validity, floor and ceiling effects, data completeness and magnitude of change over time for the eight-item patient questionnaire (HQ-8) in the Swedish Healthcare Quality Registry for hand surgery (HAKIR). Methods: Construct validity was investigated through predefined hypotheses and correlation statistics between the single items i

Background: Available interventions for preventing fragility hip fractures show limited efficacy. Injection of a biomaterial as bone substitute could increase the fracture strength of the hip. This study aimed to show the feasibility of injecting a calcium sulfate/hydroxyapatite based biomaterial in the femoral neck and to calculate the consequent change in strength using the finite element method