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Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes

PURPOSE: Gitelman's syndrome (GS) is an inherited autosomal recessive disorder due to loss of function mutations in the SLC12A3 gene encoding the Na-Cl co-transporter (NCCT), the target of thiazide diuretics. The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild hypotension, hypokalemia, hyperreninemic hyp

Heritability of model-derived parameters of beta cell secretion during intravenous and oral glucose tolerance tests: a study of twins

Aims/hypothesis: The genetic architecture of model- derived parameters of beta cell function has never been assessed. Therefore, we estimated heritability (h(2)) for model- derived phenotypes of insulin secretion in twins. Methods: Thirty-three monozygotic (MZ) and 23 dizygotic (DZ) twin pairs from the Finnish Twin Cohort Study underwent OGTT (plasma glucose/C-peptide at 0, 30, 60, 90 and 120 min)

Gender differences in asthma prevalence may depend on how asthma is defined

BACKGROUND: Asthma may be defined either as wheeze within the previous 12 months (current wheeze) doctor-diagnosed asthma (DDA), or current wheeze plus confirmed airway hyperresponsiveness (AHR). AIMS: We wanted to estimate asthma prevalence in randomly selected adolescents based on different criteria for asthma diagnosis, study gender differences in reported asthma-like symptoms vs DDA, and relat

Fertility in four regions spanning large contrasts in serum levels of widespread persistent organochlorines: a cross-sectional study

BACKGROUND: Persistent organochlorine pollutants (POPs) may interfere with reproductive function but direct evidence in humans is very limited. METHODS: Fertility was examined in four regions with contrasting blood levels of POPs. Pregnant women and their partners in Warsaw (Poland), Kharkiv (Ukraine) and Greenland were consecutively enrolled during antenatal visits. Swedish fishermen and their sp

Leaching of hazardous substances from additives and admixtures in concrete

The aim of this work was to study the leaching of hazardous substances in additives and admixtures that are commonly contained in concrete. Time-dependent leaching has been analyzed for three types of metal containing concretes: with ordinary Portland cement (OPC), fly ash, and slag. The concretes had uniform leaching patterns, clearly above detection limits. The prolonged diffusion test of 1,700

Consumption of both resistant starch and beta-glucan improves postprandial plasma glucose and insulin in women

OBJECTIVE - Consumption of a meal high in resistant starch or soluble fiber (P-glucan) decreases peak insulin and glucose concentrations and areas under the curve (AUCs). The objective was to determine whether the effects of soluble fiber and resistant starch on glycemic variables are additive. RESEARCH DESIGN AND METHODS - Ten normal-weight (43.5 years of age, BMI 22.0 kg/m(2)) and 10 overweight

Sensory stimulation promotes normalization of postural control after stroke

BACKGROUND AND PURPOSE: In a randomized study of hemiparetic stroke patients with a median age of 75 years, functional recovery was significantly better in those who received additional sensory stimulation (n = 38), including electrostimulation, than in control patients (n = 40) given the same physiotherapy and occupational therapy; group differences for balance, mobility, and activities of daily

Follow-up of men with elevated prostate-specific antigen and one set of benign biopsies at prostate cancer screening

Objective: To study the follow-up of men with elevated prostate-specific antigen (PSA) (>3 ng/ml) after one benign set of sextant biopsies. From the Goteborg branch of the European Randomised Study of Screening for Prostate Cancer (ERSPC). Method: 456 men with one set of benign sextant biopsies were followed every second year for 4 years with PSA determinations. In cases of elevated PSA, transrect

History, clinical findings, sexual behavior and hygiene habits in women with and without recurrent episodes of urinary symptoms

BACKGROUND: To compare women with and without a history of recurrent symptoms suggestive of a urinary tract infection but a current negative urine culture regarding symptoms and signs of a genital infection, carriership of sexually transmitted agents and vaginal flora changes, sexual behavior and genital hygiene practice. SETTINGS: Contraceptive attendees at family planning and youth clinics. MATE

Antithrombotic treatment and risk of complications after head and neck full thickness skin graft surgery

Head and neck skin cancer surgery using a full thickness skin graft is a common procedure. Evidence concerning the effects of perioperative antithrombotic treatment on complications is limited. The aim of this study was to evaluate whether perioperative antithrombotic treatment is associated with risk of necrosis, bleeding or infection after full thickness skin graft surgery. Retrospective single-

Prostate cancer survivors : Risk and mortality in second primary cancers

To assess etiological and clinical consequences of second primary cancers (SPCs) in prostate cancer (PC) patients, we followed newly diagnosed patients to identify men who were diagnosed with a SPC and recorded their causes of death. We used the Swedish Family-Cancer Database to assess relative risks (RRs) and causes of death in SPCs until the year 2015 in patients with a PC diagnosis between 2001

A male bovine linkage map for the ADR granddaughter design

The aim of this paper is to present the construction of a male genetic linkage map as a result of the bovine genome mapping project, which is a common effort of the German cattle breeding federation (ADR), four animal breeding institutes, three blood group laboratories and two animal data and breeding value evaluation centres. In total 20 grandsires with 1074 sires were provided from the German ca

Ischemic QRS prolongation as a biomarker of myocardial injury in STEMI patients

BACKGROUND: Patients with acute coronary occlusion (ACO) may not only have ischemia-related ST-segment changes but also changes in the QRS complex. It has recently been shown in dogs that a greater ischemic QRS prolongation (IQP) during ACO is related to lower collateral flow. This suggests that greater IQP could indicate more severe ischemia and thereby more rapid infarct development. Therefore,

Long-term post-recurrence survival outcomes in young women receiving fertility-sparing surgery for epithelial ovarian cancer

Objective: The aim of this study was to investigate long-term post-recurrence survival outcomes in young women receiving fertility-sparing surgery (FSS) to verify the feasibility of the limited surgery for epithelial ovarian cancer (OvCa). Study design: We performed a regional multicenter retrospective study from January 1986 and March 2020, using clinical data corrected under the central patholog

Exploring and comparing definitions of healthy vascular ageing in the population : characteristics and prospective cardiovascular risk

Different methods can be used to define healthy vascular ageing (HVA). In this prospective cohort study, we explored three different definitions in order to provide guidance for which to use. 2718 subjects were included from the Cardiovascular (CV) arm of the Malmö Diet Cancer Study (MDCS; median age 71.9 years, 62.2% females). Three different definitions of HVA were used: HVA-1 (<15th percentile

Role of mitochondrial DNA copy number in incident cardiovascular diseases and the association between cardiovascular disease and type 2 diabetes : A follow-up study on middle-aged women

BACKGROUND AND AIMS: Mitochondrial DNA copy number (mtDNA-CN) is a surrogate biomarker of mitochondrial dysfunction and is associated with type 2 diabetes (T2D) and cardiovascular disease (CVD). However, despite being associated with both CVD and T2D, it is not known what role mtDNA-CN has in the association between T2D and CVD. Our aims were to investigate whether, (1) baseline mtDNA-CN is associ

Self-care Management Intervention in Heart Failure (SMART-HF) : A Multicenter Randomized Controlled Trial

Background: Self-care behavior is important in avoiding hospitalization for patients with heart failure (HF) and refers to those activities performed with the intention of improving or restoring health and well-being, as well as treating or preventing disease. The purpose was to study the effects of a home-based mobile device on self-care behavior and hospitalizations in a representative HF-popula

Bacteremia with ESBL-producing Enterobacterales is associated with IgG antibodies reacting with CTX-M-15 and/or CTX-M-27

Objectives: The adaptive humoral immune response following clinical infection with extended spectrum beta-lactamase (ESBL)-producing Enterobacterales (EPE) has not been thoroughly investigated. The aim of this study was to investigate the presence of anti-CTX-M-15 and/or anti-CTX-M-27 IgG antibodies in bacteremia patients diagnosed with EPE compared to a control group consisting of patients suffer

Tumor-Associated CD68+, CD163+, and MARCO+ Macrophages as Prognostic Biomarkers in Patients With Treatment-Naïve Gastroesophageal Adenocarcinoma

Background: Despite improvements in surgical methodologies and perioperative chemo- and radiotherapy, the prognosis for patients with esophageal and gastric cancer remains poor. Hence, there is a great need to identify complementary biomarkers for improved treatment stratification. Tumor-infiltrating immune cells have been shown to impact on outcome in many types of cancer, including gastroesophag