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Finding new causes of monogenic diabetes helps understand glycaemic regulation in humans. To find novel genetic causes of maturity-onset diabetes of the young (MODY), we sequenced MODY cases with unknown aetiology and compared variant frequencies to large public databases. From 36 European patients, we identify two probands with novel RFX6 heterozygous nonsense variants. RFX6 protein truncating va
Aims To identify areas in need of quality improvement by investigating inpatients' perceptions of quality of care, and to identify differences in perceptions of care related to patient gender, age and type of admission. Background Nursing managers play an important role in the development of high-quality care. Methods Quality of care was assessed using the Quality from the Patients' Perspective (Q
To evaluate the shared genetic etiology of type 2 diabetes (T2D) and coronary heart disease (CHD), we conducted a genome-wide, multi-ancestry study of genetic variation for both diseases in up to 265,678 subjects for T2D and 260,365 subjects for CHD. We identify 16 previously unreported loci for T2D and 1 locus for CHD, including a new T2D association at a missense variant in HLADRB5 (odds ratio (
This research examines the practices of consumers that are made possible by a 'low-end' street, and how these shopping practices in turn shape and maintain a high street at the urban margins. It locates itself within the academic inquiries of cultural geographies of retail.Södergatan is the field of the study, the main shopping street in the stigmatized southern part of city of Helsingborg in Swed
We are seeing today an increased interest in ethics, the environment, and social responsibility at the same time as the individual is expected, in different ways, to realize him-/herself through consumption. These interests coincide with the establishment of ethical markets for re-use and second-hand. In this paper we investigate and map out the ethical shopping spaces in Helsingborg, and how thes
Ca2+-sensor proteins are generally implicated in insulin release through SNARE interactions. Here, secretagogin, whose expression in human pancreatic islets correlates with their insulin content and the incidence of type 2 diabetes, is shown to orchestrate an unexpectedly distinct mechanism. Single-cell RNA-seq reveals retained expression of the TRP family members in β-cells from diabetic donors.
It is hoped that information garnered from studies on population genetics will one day be translated into a form in which it meaningfully improves the prediction, prevention or treatment of type 2 diabetes. Type 2 diabetes genetics researchers have made extraordinary progress in identifying common genetic variants that are associated with type 2 diabetes, which has shed light on the biological pat
The aim of this study was to investigate long-term development of hearing in subjects who had received platinum-based chemotherapy in childhood or adolescence. Another aim was to assess the self-reported hearing loss handicap and compare it to audiometric measurements. Medical records from individuals diagnosed with childhood cancer and treated with platinum-based chemotherapy between 1985 and 200
Glucagon secretion is inhibited by glucagon-like peptide-1 (GLP-1) and stimulated by adrenaline. These opposing effects on glucagon secretion are mimicked by low (1-10 nM) and high (10 muM) concentrations of forskolin, respectively. The expression of GLP-1 receptors in alpha cells is <0.2% of that in beta cells. The GLP-1-induced suppression of glucagon secretion is PKA dependent, is glucose indep
Background Phobic postural vertigo is characterized by dizziness in standing and walking despite normal clinical balance tests. Patients sometimes exhibit anxiety reactions and avoidance behavior to specific stimuli. Different treatments are possible for PPV, including vestibular rehabilitation exercises, pharmacological treatment, and cognitive behavioral therapy. We recently reported significant
