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Ökad kunskap om familjärt melanom och de bakomliggande generna

Approximately 5-10 % of all melanoma patients have close relatives with melanoma. 5-20% of melanoma families have germline mutations in the CDKN2A gene. Swedish CDKN2A mutation carriers have a young median age of onset of melanoma, increased risks of multiple primary melanoma and of tobacco-associated cancers in respiratory and upper digestive tissues, and also worse survival compared to non-carri

A National Swedish Longitudinal Twin-Sibling Study of alcohol use disorders among males

Aims: To examine whether genetic influences on the development of alcohol use disorders (AUD) among men during emerging adulthood through mid-adulthood are stable or dynamic. Design: A twin study modeling developmental changes in the genetic and environmental influences on AUD during three age periods (18-25, 26-33 and 33-41) as a Cholesky decomposition. Setting: Sweden. Participants: Swedish male

PON-P and PON-P2 predictor performance in CAGI challenges : Lessons learned

Computational tools are widely used for ranking and prioritizing variants for characterizing their disease relevance. Since numerous tools have been developed, they have to be properly assessed before being applied. Critical Assessment of Genome Interpretation (CAGI) experiments have significantly contributed toward the assessment of prediction methods for various tasks. Within and outside the CAG

The addition of etoposide to CHOP is associated with improved outcome in ALK+ adult anaplastic large cell lymphoma : A Nordic Lymphoma Group study

Anaplastic large cell lymphomas (ALCLs) are rare CD30+ peripheral T-cell lymphomas (PTCLs) classified according to the expression of the anaplastic lymphoma kinase (ALK+) protein or not (ALK-). We have analysed the outcome and risk factors for survival in a population-based bi-national cohort of patients with systemic ALK+ ALCL. A total of 122 adult (≥18 years) patients diagnosed with ALK+ ALCL be

Daily Assessment of Acute Dynamic Risk in Paroled Offenders : Prediction, Predictive Accuracy and Intervention Effect

Few studies have assessed acute dynamic risk repeatedly among paroled offenders to investigate the relationship between changes in acute dynamic risk and recidivism in crime. The present study investigates whether one-month changes in ten stress-related acute dynamic risk factors, collected through automated telephony while the participants were still in prison and over 30 consecutive days followi

Snapshot of the Hymenopteran fauna of Stora Karlsö

Stora Karlsö is a small island close to Gotland in the Baltic Sea of which the Hymenopteran fauna has not been extensively studied before. In August 2014, a team of eight persons carried out an inventory of Hymenoptera, mainly the parasitoid wasps and sawflies, on the island. Sampling was done with Malaise traps for a period of 22 days, complemented with vegetation sweeping, branch shaking and opp

Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells

Primary immunodeficiencies (PIDs) form a large and heterogeneous group of mainly rare disorders that affect the immune system. T-cell deficiencies account for about one-Tenth of PIDs, most of them being monogenic. Apart from genetic and clinical information, lots of other data are available for PID proteins and genes, including functions and interactions. Thus, it is possible to perform systems bi

Impact of comorbidity on survival in peripheral T-cell lymphomas : A Swedish Lymphoma Registry study

Comorbidity impacts survival in B-cell lymphoma patients, but the influence in peripheral T-cell lymphomas (PTCLs) has been little studied. To investigate the impact of comorbidity on outcome in PTCL, we identified adult patients with newly diagnosed PTCL from 2000 to 2009 in the Swedish Lymphoma Registry. Data on comorbidity at diagnosis were retrospectively collected according to the Charlson Co

Brain natriuretic peptide levels in middle aged subjects with normal left ventricular function in relation to mild-moderate COPD

Background: Levels of plasma brain natriuretic peptide (BNP) have been shown to be elevated in chronic obstructive pulmonary disease (COPD) especially in connection with cor pulmonale (CP) and the late stages of the disease. BNP is also raised in left sided heart failure which sometimes coincides with COPD. Whether BNP is elevated in subjects with mild-moderate stable COPD and normal left ventricu

Correlation of histopathologic characteristics to protein expression and function in malignant melanoma

Background Metastatic melanoma is still one of the most prevalent skin cancers, which upon progression has neither a prognostic marker nor a specific and lasting treatment. Proteomic analysis is a versatile approach with high throughput data and results that can be used for characterizing tissue samples. However, such analysis is hampered by the complexity of the disease, heterogeneity of patients

AS3MT-mediated tolerance to arsenic evolved by multiple independent horizontal gene transfers from bacteria to eukaryotes

Organisms have evolved the ability to tolerate toxic substances in their environments, often by producing metabolic enzymes that efficiently detoxify the toxicant. Inorganic arsenic is one of the most toxic and carcinogenic substances in the environment, but many organisms, including humans, metabolise inorganic arsenic to less toxic metabolites. This multistep process produces mono-, di-, and tri

Practical Evaluation of a Novel Multivariable Relay Autotuner with Short and Efficient Excitation

In this paper we propose an autotuning method that combines a setup for decentralized relay autotuning of two-input two-output systems with an identification method that uses short experiments to estimate up to second-ordertime-delayed systems. A small modification of the experiment gives better low-frequency excitation and improved models. The method is successfully demonstrated in simulations an

Wash-in and wash-out of sevoflurane in a test-lung model : A comparison between Aisys and FLOW-i

Background: Modern anaesthesia workstations are reassuringly tight and are equipped with effective gas monitoring, thus providing good opportunities for low/minimal flow anaesthesia. A prerequisite for effective low flow anaesthesia is the possibility to rapidly increase and decrease gas concentrations in the circle system, thereby controlling the depth of anaesthesia. Methods: We studied the wash