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A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study

Familial isolated GH deficiency type II (IGHD-II) is an autosomal dominant disorder that has been previously shown in some patients to be caused by heterogeneous GH gene defects that affect GH messenger RNA (mRNA) splicing. We report here our finding of multiple G-->A transitions of the first base of the donor splice site of IVS 3 (+ 1G-->A) in IGHD II subjects from three nonrelated kindreds from

Sex-and depot-specific differences in cellular insulin responsiveness during adipose expansion

AimsAdipose tissue distribution, metabolism, and expansion capacity exhibit notable sex- and depot-specific differences. Herein, we monitored adipocyte traits related to insulin responsiveness and glucose transport during adipose expansion in visceral and subcutaneous fat from male and female mice.Material and methodsAdipocytes were isolated from perigonadal and inguinal adipose tissue of chow-fed

Comparison of CSF biomarkers in multiple sclerosis patients treated with natalizumab and rituximab

Background: Patients with relapsing remitting multiple sclerosis (RRMS) treated with the high-efficacy drugs natalizumab (NTZ) or rituximab (RTX) generally show no evidence of disease activity. Currently, there is no head-to-head comparison between NTZ and RTX of neurodegenerative and neuroinflammatory biomarkers in cerebrospinal fluid (CSF). Objectives: To compare CSF biomarkers in a stable RRMS

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Abstract in DanishLars-Johan Ekerots bog om svensk som andetsprog foreligger nu i dansk oversættelse og med et noteapparat henvendt til dansksprogede læsere.Bogen har siden udgivelsen i 1995 været et standardværk på læreruddannelser og andre uddannelser i svensk i Sverige og Finland samt på kurser i svensk som fremmedsprog.Bogen har også længe været flittigt brugt af studerende og kommende undervi

Results reporting for clinical trials led by medical universities and university hospitals in the Nordic countries was often missing or delayed

OBJECTIVE: To systematically evaluate timely reporting of clinical trial results at medical universities and university hospitals in the Nordic countries.STUDY DESIGN AND SETTING: In this cross-sectional study, we included trials (regardless of intervention) registered in the EU Clinical Trials Registry and/or ClinicalTrials.gov, completed 2016-2019, and led by a university with medical faculty or

In search of common ground - nephrologists’ experiences in preparing and informing patients on the path to end-stage kidney disease

BackgroundPatient education and dialogue are important when choosing a future treatment strategy for patients with chronic kidney disease. To support patients in their decision-making process, it is critical to provide information in a way that patients can understand. This study was conducted to understand how nephrologists view the goals of information sharing, the challenges involved, and the s

Circulating Proneurotensin Levels Predict Impaired Bone Mineralisation in Postmenopausal Women With Type 2 Diabetes Mellitus

Context: The mechanisms underlying bone fragility and increased fracture risk observed in individuals with type 2 diabetes (T2D) are not yet fully elucidated. Previous research has suggested a role for neuropeptides in regulating bone metabolism; however, the contribution of the neuropeptide Neurotensin (NT), which is thoroughly implicated in T2D and cardiovascular disease, has not been investigat

Atrial fibrillation and heart rate at long-term electrocardiograms

Atrial fibrillation (AF) is common condition among the elderly, and leads toincreased risks of stroke, heart failure, dementia, and death. Diagnosing AF requires electrocardiograms (ECGs), and long recordings may be necessary since AF often occurs intermittently in its early stages. During AF, the heart rate is irregular, and sometimes inappropriately fast. This thesis includes four papers that st

Beneficial Effects of a Moderately High-Protein Diet on Telomere Length in Subjects with Overweight or Obesity

Background and aim: Telomere length (TL) is a key biomarker of cellular aging, with shorter telomeres associated with age-related diseases. Lifestyle interventions mitigating telomere shortening are essential for preventing such conditions. This study aimed to examine the effects of two weight loss dietary strategies, based on a moderately high-protein (MHP) diet and a low-fat (LF) diet on TL in i

DNA methylation in cord blood partially mediates the effects of prepregnancy BMI on early childhood offspring BMI

OBJECTIVE: We investigated whether prepregnancy BMI (prePregBMI) in women with obesity was associated with differential DNA methylation (DNAm) in cord blood (CB) and whether DNAm may mediate the association of prePregBMI and early childhood BMI z score (BMIz).METHODS: From the Treatment of Obese Pregnant Women (TOP) study, 232 mother-child pairs were included. We conducted an epigenome-wide associ

Prevalence of valgus and varus foot deformities in 2784 children with cerebral palsy, a register-based cross-sectional study

Background: Foot deformities, such as valgus and varus in the coronal plane and equinus in the sagittal plane, are common in children with cerebral palsy (CP). The purpose of this study was to describe the prevalence of coronal plane foot deformities and their association with the Gross Motor Function Classification System (GMFCS) level, age, CP subtype, and equinus in children with CP. Methods: A

Overlapping Systemic Proteins in COVID-19 and Lung Fibrosis Associated with Tissue Remodeling and Inflammation

Background/Objectives: A novel patient group with chronic pulmonary fibrosis is emerging post COVID-19. To identify patients at risk of developing post-COVID-19 lung fibrosis, we here aimed to identify systemic proteins that overlap with fibrotic markers identified in patients with idiopathic pulmonary fibrosis (IPF) and may predict COVID-19-induced lung fibrosis. Methods: Ninety-two proteins we