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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

Receptor tyrosine kinases (RTKs) are implicated in cardiovascular growth and remodelling. We aimed to identify the plasma levels of RTKs and related proteins and their association with haemodynamic alterations in heart failure (HF) and related pulmonary hypertension (PH) following heart transplantation (HT). Using proximity extension assay, 28 RTKs and related proteins were analysed in plasma from

NG2 cells, a fourth glial cell type in the adult mammalian central nervous system, produce oligodendrocytes in the healthy nervous tissue, and display wide differentiation potential under pathological conditions, where they could give rise to reactive astrocytes. The factors that control the differentiation of NG2 cells after focal cerebral ischemia (FCI) are largely unknown. Here, we used transge

BACKGROUND AND OBJECTIVE: Vitamin B6 plays a pivotal role in brain development and functioning. Differences in vitamin B6 homeostasis between preterm and term newborn infants have been reported. The authors sought to investigate whether B6 vitamers in cerebrospinal fluid (CSF) of preterm and term newborn infants are different. METHODS: B6 vitamer concentrations were determined in 69 CSF samples of

The disorders of serine biosynthesis are a group of inborn errors of metabolism characterised by congenital microcephaly, seizures and severe psychomotor retardation. Although these disorders are rare the prompt recognition of serine deficiency is important as these disorders are treatable. The diagnosis is based on decreased concentrations of serine in cerebrospinal fluid (CSF). It has previously

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

Renal Fanconi syndrome developed rapidly in a 3-year-old Moroccan girl with established lysinuric protein intolerance. She was hospitalized because of lowered consciousness, uncoordinated movements and hepatosplenomegaly after a febrile period. Laboratory investigations revealed plasma ammonia 270 micromol/L (normal <70 micromol/L), ferritin 159 micromol/L (normal 2-59 micromol/L), LDH 1180 U/L (n

BACKGROUND: The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially biased. Prospective studies have had limited power, particularly for BRCA2 mutation carriers. Further, previous studies have not considered the effect of RRSO in the context

The aim of this study is to analyse how the study group method aids student entrepreneurs when developing entrepreneurial knowledge through the experiential learning process, and why it is important to stimulate peer learning in an experiential entrepreneurship education context. Due to a more experiential perspective on learning, the environment in which students learn, what students learn and whThe aim of this study is to analyse how the study group method aids student entrepreneurs when developing entrepreneurial knowledge through the experiential learning process, and why it is important to stimulate peer learning in an experiential entrepreneurship education context. Due to a more experiential perspective on learning, the environment in which students learn, what students learn and wh

Background: The negative impact of maternal smoking during pregnancy on offspring semen quality is well established. Less is known about the impact of paternal smoking. Methods: We estimated differences in semen parameters and testicle size according to paternal smoking in 772 adult sons of women enrolled in the Danish National Birth Cohort when pregnant. Parents’ smoking was reported around gesta

Background: The purpose of this work was to study usage of antibiotics, its possible determinants, and patterns of bacterial resistance in Swedish intensive care units (ICUs). Methods: Prospectively collected data on species and antibiotic resistance of clinical isolates and antibiotic consumption specific to each ICU in 1999 were analyzed together with answers to a questionnaire. Antibiotic usage

ABSTRACT. This study investigated a possible trade‐off between bark beetle reproductive effort and future survival. Parent adult Ips typographus (L.) (Coleoptera: Scolytidae) were collected when they re‐emerged from a laboratory culture after completing their first brood and held at constant temperatures of 4 or 25oC. As a comparison, emerging brood adults were collected and held at 25oC. The lon

There is a lack of knowledge on mentally disordered sex offenders (MDSOs) targeting adult victims, especially regarding recidivism patterns and the specific subgroup with psychiatric disorders. This paper presents index offense data, clinical data, and recidivism patterns over up to 24 years in a cohort of 146 MDSOs, with and without psychotic disorders, sentenced in Sweden between 1993 and 1997.

Objectives: The aim of this feasibility study was to evaluate the added value of contrast-enhanced mammography (CEM) in preoperative staging of malignant breast lesions, beyond standard assessment with digital mammography and ultrasound, as a base for a future prospective randomized trial. Materials and methods: Forty-seven patients, with confirmed or strongly suspected malignant breast lesions af

Background: A pre-specified model based on four kallikrein markers in blood, commercially available as 4Kscore, predicts Gleason Grade (GG) 3 + 4 or higher prostate cancer on biopsy. However, sampling error and variation in pathology reporting may miss aggressive disease. Methods: The 4Kscore was measured in cryopreserved blood from 2330 men obtained before prostatectomy at a single institution be

Objective: What and when should we tell sibling donors about the donation process? Although we provide extensive information to sibling stem cell donors, we lack knowledge of their perceptions and how they change during the donation process. Therefore, the aim of this study was to explore sibling donors’ perceptions of experiences of stem cell donation from pre-donation to one year afterwards.Meth

BACKGROUND: Patients with a high ventricular rate during atrial fibrillation (AF) are at increased risk of receiving inappropriate implantable cardioverter defibrillator shocks. The objective was to demonstrate the feasibility of high frequency atrioventricular-nodal stimulation (AVNS) to reduce the ventricular rate during AF to prevent inappropriate implantable cardioverter defibrillator shocks.M

BACKGROUND: Amblyopia is the most common monocular visual impairment in Scandinavia. A visual screening programme for preschool children was introduced in Sweden in the 1970s to reduce the prevalence of amblyopia. The purpose of this study was to investigate the impact of this visual screening programme in adult men recruited to the armed forces in Sweden.METHODS: The prevalence of amblyopia was c

Frequent application of nitrogen fertilizers through irrigation is likely to increase the concentration of nitrate in groundwater. In this study, the HYDRUS-2D/3D model was used to simulate fertilizer movement through the soil under surface (DI) and subsurface drip irrigation (SDI) with 10 and 20 cm emitter depths for tomato growing in three different typical and representative Egyptian soil types