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Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage

OBJECTIVES: To identify germ line variants contributing to the development of monoclonal gammopathy of undetermined significance (MGUS), an asymptomatic premalignant precursor for multiple myeloma (MM).METHODS: We conducted the first genomewide association study (GWAS) on MGUS on 243 German cases with a replication on 294 Czech cases. Identified loci were further analyzed in 1508 German MM patient

Previous research has not been conclusive regarding the association between selenium (Se) and breast cancer. This study was conducted to clarify if there is an association between prediagnostic serum Se levels and breast cancer risk. A population based cohort, the Malmö Diet and Cancer Study, was used and linked with the Swedish cancer registry up to 31 December 2013. Our study included 1,186 wome

Aim: Studies have suggested that there is a difference in risk of local recurrence(LR) with circumferential resection margins (CRM) less than 1.0 mm. We aimed toexamine how exact resection margins affect LR risk.Method: Data from the Swedish Colorectal Cancer Registry (SCRCR) were usedfor retrospective analysis of resected rectal cancers between 2005 and 2013. Primaryendpoint was LR.Results: 12146

The molecular form and immunochemical properties of the J chain populations released on reduction and carboxymethylation of normal human plasma, milk, saliva and of plasma containing IgA or IgM M-components were investigated. A procedure was devised to release the entire J chain population from these various sources and to produce immunochemically identical J chain populations containing only J ch

A common problem when studying groundwater contamination in low-income countries is that data required for a detailed risk assessment are limited. This study presents a method for assessment of the potential impact of groundwater contamination by total petroleum hydrocarbons (TPH) in a data-scarce region. Groundwater modeling, using the MODFLOW, was used to simulate regional-scale flow pattern. Th

Rapporten sammanfattar fjärilsinventeringar utförda 2020 inom Biogeografisk uppföljning som drivs av Naturvårdsverket. I fjällområdet kunde totalt 49 ytor inventeras. Sammanlagt noterades 151 högnordiska blåvingar på 22 inventerade ytor, 53 dvärgpärlemorfjärilar på 25 ytor och minst 1 fjällsilversmygare noterades på 3 inventerade ytor. Svartfläckig blåvinge observerades på 15 av 50 inventerade lok

BACKGROUND: Tailored and culturally appropriate latent tuberculosis (TB) infection screening and treatment programs, including interventions against TB stigma, are needed to reduce TB incidence in low TB incidence countries. However, we lack insights in stigma related to latent TB infection (LTBI) among target groups, such as asylum seekers and refugees. We therefore studied knowledge, attitudes,

Homografts have long been used for right ventricular outflow tract (RVOT) reconstruction. Tissue banks struggle to meet the clinical demand of tissue, with insufficient donor availability and strict recommendations on tissue quality with high proportions of discards. This study analyzes the long-term outcome of patients receiving a homograft with small fenestrations of the cusps or other structura

Background: Patients in intensive care units (ICUs) are among the most vulnerable, and they require support to start their recovery. The design of the patient area in the ICU can play a prominent role in both the quality of care and patients’ recovery. The lighting environment has the opportunity to restore and strengthen the natural human circadian rhythm and health. Aim: To evaluate patients’ se

Sialylations are post-translational modifications of proteins and lipids that play important roles in many cellular events, including cell-cell interactions, proliferation, and migration. Tumor cells express high levels of sialic acid (SA), which are often associated with the increased invasive potential in clinical tumors, correlating with poor prognosis. To overcome the lack of natural SA-recept

Background: Treatment of chronically occluded infrainguinal venous bypass grafts in patients presenting with recurrent chronic limb threatening limb ischemia (CLTI) represent a clinical challenge. Recent case reports have suggested the use of endovascular recanalization techniques without preceding thrombolysis. This study assesses feasibility and mid-term outcomes of this technique. Results: A re

Background: Familial cancer can be defined through the occurrence of the same cancer in two or more family members. We describe a nationwide landscape of familial cancer, including its frequency and the risk that it conveys, by using the largest family database in the world with complete family structures and medically confirmed cancers. Patients/methods: We employed standardized incidence ratios

Aim: Impaired regulation of glucose metabolism in childhood adversely affects bone health. We assessed the effect of fasting hyperglycemia and insulin resistance on bone turnover markers in prepubertal children with normal glycemia (<100 mg/dL) and fasting hyperglycemia (100-125 mg/dL). Methods: Glucose, hemoglobin A1c, IGF-I (insulin-like growth factor I), iP1NP (N-terminal propeptide of type I p

Objective: To assess the value of second-look resection (SLR) in stage T1 bladder cancer (BCa) with respect to progression-free survival (PFS), and also the secondary outcomes recurrence-free survival (RFS), bladder-cancer-specific survival (CSS), and cystectomy-free survival (CFS). Patients and methods: The study included 2456 patients diagnosed with stage T1 BCa 2004–2009 with 5-yr follow-up reg

Ceramic biomaterials are promising alternatives to bone autografts. However, limited bioactivity affects their performance. Therefore, bioactive molecules and cells are often added to enhance their performance. Exosomes have emerged as cell-secreted vesicles, delivering proteins, lipids, and nucleic acids in a paracrine/endocrine fashion. We studied two complementary aspects required for exosome a

Background The aim of the study was to evaluate how different parameters in the preoperative, perioperative, and postoperative period affect time to full enteral feeding (TFEF) in children undergoing pyloromyotomy. Methods A retrospective study of all children operated for infantile hypertrophic pyloric stenosis between 2001 and 2017 was conducted. Parameters in demographics and in the preoperativ