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Survival benefit of lung transplantation in individuals with severe α(1)-anti-trypsin deficiency (PiZZ) and emphysema.

BACKGROUND: The objective of lung transplantation (LTx) is to prolong life, but the survival benefit for patients with severe α(1)-anti-trypsin deficiency (PiZZ) and emphysema is still unclear. The aim of this study was to assess whether PiZZ patients who have undergone lung transplantation (the lung transplant group, TxG) do better than patients who have continued on the usual medical therapy (th

Chromosome x-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation.

The X chromosome (chrX) represents one potential source for the "missing heritability" for complex phenotypes, which thus far has remained underanalyzed in genome-wide association studies (GWAS). Here we demonstrate the benefits of including chrX in GWAS by assessing the contribution of 404,862 chrX SNPs to levels of twelve commonly studied cardiometabolic and anthropometric traits in 19,697 Finni

Lower birth weight indicates higher risk of autistic traits in discordant twin pairs

Background. Autism spectrum disorder (ASD) is a neurodevelopmental disorder of complex etiology. Although strong evidence supports the causal role of genetic factors, environmental risk factors have also been implicated. This study used a co-twin-control design to investigate low birth weight as a risk factor for ASD. Method. We studied a population-based sample of 3715 same-sex twin pairs partici

Circannual variation in blood parasitism in a sub-Saharan migrant passerine bird, the garden warbler

Knowing the natural dynamics of pathogens in migratory birds is important, for example, to understand the factors that influence the transport of pathogens to and their transmission in new geographical areas, whereas the transmission of other pathogens might be restricted to a specific area. We studied haemosporidian blood parasites of the genera Plasmodium, Haemoproteus and Leucocytozoon in a mig

Early–Middle Ordovician biotic and sedimentary dynamics in the Baltoscandian paleobasin

Baltoskandien utgör en del av paleokontinenten Baltica, vilken mestadels var täckt av ett grunt epeiriskt hav under den ordoviciska tidsperioden (ca 485,5–444 Ma). Detta uråldriga hav efterlämnade en tunn lagerföljd av sedimentära bergarter. Under tidig–mellanordovicium (ca 485,5–457,5 Ma) befann sig Baltica vid tempererade breddgrader på södra halvklotet och kallvattenkarbonater bildades över stoThe Baltoscandian region forms part of the paleocontinent Baltica, which was largely covered by a shallow epeiric sea throughout much of the Ordovician (c. 485.5–444 Ma). This ancient sea is today recorded by a thin succession of sedimentary rocks. During the Early–Middle Ordovician (c. 485.5–457.5 Ma), Baltica was situated in mid-latitudes on the southern hemisphere and cool-water carbonates form

On the development of gender in simultaneous and successive bilingual acquisition of French : Evidence for AOA and input effects

This study investigates the effects of Age of Onset of Acquisition (AOA) and the quality and quantity of input on the longitudinal development of gender in the acquisition of French by simultaneous (2L1) and successive bilingual children (cL2). There's an on-going debate regarding the main factors underlying linguistic development in bilingual children. Two independent variables, AOA and input, ha

Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer

Increasing evidence supports the benefit of identifying BRCA1 and BRCA2 germline mutations in early breast cancer. Selection of patients for genetic testing is based on defined criteria taking individual and family history related factors into account. It is important to make a distinction between efficacy and effectiveness of BRCA testing criteria. Efficacy can be defined as the performance under