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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

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

AIMS: While workplace wellness services are proactively established to improve well-being and reduce sickness absence, knowledge of reasons for using these services remains sparse. This study investigates which factors determine use of an in-house wellness service at a large organization (the Danish Police) with several departments in different geographical locations.METHODS: All potential users o

Aim: Longitudinal ventricular contraction is a parameter of cardiac performance with predictive power. Right ventricular (RV) longitudinal function is impaired in patients with free pulmonary regurgitation (PR) following corrective surgery for Tetralogy of Fallot (TOF). It remains unclear whether this is a consequence of the surgical repair, or whether it is inherent to PR. The aim of this study w

Introduction: Four-dimensional (4D) flow magnetic resonance imaging (MRI) enables kinetic energy (KE) quantification of intraventricular blood flow. In this study we aimed to quantify the KE in in patients with univentricular heart and to assess the change in the KE after different types of interventions. Methods: 4D flow MRI was acquired in patients with Fontan circulation (n=12; median age 12, r

Abstract: Purpose Ingrowth of fibroblasts in a polypropylene mesh may cause contraction and a later recurrence. We assessed mesh contraction in intraabdominal and retromuscular implantation after incisional hernia repair. Methods: A cohort of patients within an RCT on laparoscopic (LHR) versus open hernia repair (OHR) had their mesh borders marked with metal clips. X-ray was performed on postopera

The stable isotope of carbon, 13C, has been used in several studies for source characterization of carbonaceous aerosol since there are specific signatures for different sources. In rural areas, the influence of different sources is complex and the application of δ13C for source characterization of the total carbonaceous aerosol (TC) can therefore be difficult, especially the separation between bi

Background The revised Atlanta classification on acute pancreatitis (AP) presents distinct criteria for severity categorization. Due to the lack of reliable prognostic markers, a majority of patients with AP are currently hospitalized and initially managed identically. As incidence and financial costs are rising the need for early severity differentiation will increase. This study aimed to investi

Aim: We investigated how dietary management affected body weight (BW) reduction and energy expenditure in obese and normal-weight type 2 diabetic patients. Methods: Type 2 diabetic patients who were hospitalized for diabetic control (93 men and 51 women) were checked for resting energy expenditure (REE). Subjects were divided into the two groups according to body mass index (BMI): obese (BMI ≥ 25)

AIMS: Left ventricular hypertrophy, obesity, hypertension, and N-terminal B-type natriuretic peptide (Nt-proBNP) predict left ventricular diastolic dysfunction with preserved systolic function (DD-PSF). Self-rated health (SRH) is shown to be associated with chronic diseases, but the association of SRH with DD-PSF is unclear. In light of the clinical implications of DD-PSF, the following goals are

Background: The Montreal Cognitive Assessment (MoCA) has a high sensitivity for detecting cognitive dysfunction. Swedish normative data does not exist and international norms are often derived from populations where cognitive impairment has not been screened for and not been thoroughly assessed to exclude subjects with dementia or mild cognitive impairment. Objective: To establish norms for MoCA a