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Pheochromocytoma and paraganglioma (PPGL) are rare tumours and at least 30% are part of hereditary syndromes. Approximately 20% of hereditary PPGL are caused by pathogenic germ line variants in genes of the succinate dehydrogenase complex (SDHx), TMEM127 or MAX. Herein we present guidelines regarding genetic testing of family members and their surveillance based on a thorough literature review. Al
Context: The risk of many conditions, including prostate cancer, breast cancer, and osteoporosis, is associated with serum levels of sex steroids. Objective: The aim of the study was to identify genetic variations in sex steroid-related genes that are associated with serum levels of estradiol (E2) and/or testosterone in men. Design: Genotyping of 604 single nucleotide polymorphisms in 50 sex stero
Background: Serum creatinine-based estimates of GFR may be inaccurate in the elderly and there is need for improvement. Serum Cystatin C, not being influenced by muscle volume, may be more accurate. Material and methods: GFR was measured with plasma clearance of iohexol in 50 elderly persons aged >70 years. Blood tests were drawn for analysis of creatinine, albumin and urea. Cystatin C was analyse
Context: Test driven development (TDD) has been extensively researched and compared to traditional approaches (test last development, TLD). Existing literature reviews show varying results for TDD. Objective: This study investigates how the conclusions of existing literature reviews change when taking two study quality dimension into account, namely rigor and relevance. Method: In this study a sys
Context: MicroRNAs (miRNA) are noncoding RNAs that post- transcriptionally regulate gene expression. Their altered expression and function have been observed in most urologic cancers. MiRNAs represent potential disease biomarkers and novel therapeutic targets. Objective: To review and evaluate the evidence implicating miRNAs in the pathogenesis of prostate cancer (PCa), bladder cancer (BCa), and r
OBJECTIVE: The aim of the present study was to analyze the long-term outcome of mid-clavicle fractures in adults and to evaluate the clinical importance of displacement and fracture comminution. DESIGN: Two hundred twenty-five mid-clavicular fractures that had been nonsurgically treated at Malmo University Hospital were retrospectively evaluated, both clinically and radiographically, an average of
The aim of this thesis was to study annually laminated (varved) Holocene lake sediment in Sweden, their formation and their potential as chronological and palaeoecological archives. Five lakes with continuous Holocene varved lake sediment sequences in northern (Västerbotten) and west central Sweden (Värmland) were investigated. Three of these sequences were discovered during this study, which iden
This questionnaire survey was initiated to acquire information for prepration of a series of field studies. The paper deals with questions that were related to the thermal responses of the feet and footwear performance. The questionnaire was sent to a harbour, a telecommunication company and a customs office. At the harbour most of the workers used footwear with warm lining during winter. Half of
* This workshop’s long term goal is to foster a community of Information Systems researchers and practitioners who are interested in the socio-technical perspective and see it as an important approach to improve the quality and reduce the costs of the information systems that have become an essential part of our lives in this 21st century. All communities need meeting places where they can discuss
Context: Prostate cancer (PCa) is one of the most common human malignancies and arises through genetic and epigenetic alterations. Epigenetic modifications include DNA methylation, histone modifications, and microRNAs (miRNA) and produce heritable changes in gene expression without altering the DNA coding sequence. Objective: To review progress in the understanding of PCa epigenetics and to focus
Background: Arsenic is mono- (MMA) and dimethylated (DMA) in humans and the methylation pattern demonstrates large inter-individual differences. The fraction of urinary MMA is a marker for susceptibility to arsenic-related diseases. Objectives: The impact of polymorphisms in five methyltransferase genes on arsenic metabolism was evaluated in two populations, one in South America, one in southeast
Background: Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1, implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10) gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two non-synonymous mutations of RPL10,
Objective: To assess the prevalence and risk factors of emergency peripartum hysterectomy. Design:Nordic collaborative study. Population605362 deliveries across the five Nordic countries. Methods: We collected data prospectively from patients undergoing emergency peripartum hysterectomy within 7days of delivery from medical birth registers and hospital discharge registers. Control populations cons
Parkinson's disease (PD) is a multifactorial movement disorder characterized by progressive neurodegeneration. Genome-wide association studies (GWAS) have nominated over fifteen distinct loci associated with risk of PD, however the biological mechanisms by which these loci influence disease risk are mostly unknown. GWAS are only the first step in the identification of disease genes: the specific c
European CH4 emissions are estimated for the period 2001-2006 using a four-dimensional variational (4DVAR) inverse modeling system, based on the atmospheric zoom model TM5. Continuous observations are used from various European monitoring stations, complemented by European and global flask samples from the NOAA/ESRL network. The available observations mainly provide information on the emissions fr
Introduction: Complement activation is involved in rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and atypical hemolytic uremic syndrome (aHUS). Autoantibodies to complement inhibitor factor H (FH), particularly in association with deletions of the gene coding for FH-related protein 1 (CFHR1), are associated with aHUS. Methods: Autoantibodies against FH, factor I (FI) and C4b-bindin
Arbuscular mycorrhizal (AM) development in different soil types, and the influence of AM fungal hyphae on their original soil were investigated. Plantago lanceolata, which can grow in soils of a very wide pH range, was grown in two closely related limestone soils and an acid soil from rock habitats. Plants were colonised by the indigenous AM fungal community. The use of compartmented systems allow
Increased vascular dilatation and permeability characterize allergic rhinitis. In this study oligonucleotide microarrays (Affymetrix HuGe95A) were used to identify differentially expressed vasoactive genes in nasal biopsies from 23 patients with symptomatic seasonal allergic rhinitis (SAR) and 12 healthy controls. RNA was extracted from the biopsies and pooled in three patient and three control po
OBJECTIVE: To study the effect of postoperative thyroxine on the volume of the thyroid remnant after lobectomy for benign nontoxic goitre. DESIGN: Prospective, randomised study. SETTING: University hospital, Sweden. SUBJECTS: 50 consecutive patients who underwent lobectomy for benign non-toxic goitre. INTERVENTIONS: Patients were randomised postoperatively to take thyroxine 0.1 mg or placebo daily
