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Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it h

What determines the seasonal and interannual variation of growth rates in trees in a tropical forest? We explore this question with a novel four-year high-temporal-resolution data set of carbon allocation from two forest plots in the Bolivian Amazon. The forests show strong seasonal variation in tree wood growth rates, which are largely explained by shifts in carbon allocation, and not by shifts i

The aim of this study was to determine in patients with HCV genotype 2 or 3 the performance at week 4 of two assays with different sensitivities for HCV RNA detection, for the prediction of SVR and stratification for treatment duration (14 and 24 weeks). Recruitment was from two trials comparing 14 and 24 weeks treatment to patients with rapid virological response (RVR) (n = 550). RVR was original

Obesity is defined as abnormal or excessive fat accumulation that may impair health, and increased knowledge about the enzymes controlling lipid metabolism is of great importance in order to combat this disease. Hormone-sensitive lipase (HSL) is a key enzyme in the mobilization of fatty acids from acylglycerols in adipocytes, but also plays important roles in other cell types. The aim of this thes

Inherited retinal degenerations, collectively termed retinitis pigmentosa (RP), constitute one of the leading causes of blindness in the developed world. RP is at present untreatable and the underlying neurodegenerative mechanisms are unknown, even though the genetic causes are often established. Acetylation and deacetylation of histones, carried out by histone acetyltransferases (HATs) and histon

Declining age at menarche has been observed in many countries. In China, a decrease of 4.5 months per decade in the average age at menarche among the majority Han girls has recently been reported. However, the trends in age at menarche among ethnic minority girls over the past 25 years remain unknown.

The control of DNA condensation, i.e. packaging or compaction, is essential for the living cell, but also important in many applications. One example is gene therapy that often utilises vehicles with the ability to condense DNA and thereby protect DNA against degradation, transport DNA across membranes (which act as barriers towards gene delivery), and regulate gene expression. This review discuss

Background: Hormone-sensitive lipase (HSL) is expressed predominantly in adipose tissue, where it plays an important role in catecholamine-stimulated hydrolysis of stored lipids, thus mobilizing fatty acids. HSL exhibits broad substrate specificity and besides acylglycerides it hydrolyzes cholesteryl esters, retinyl esters and lipoidal esters. Despite its role in fatty acid mobilization, HSL null

To investigate if diet quality is related to incidence of cardiovascular (CV) events.

It is argued that the focus of design is becoming increasingly intangible. At the same time as design consultants are expanding their offerings with new services aimed at enhancing innovation and the strategic process in client firms, studies indicate that industrial design consultancies have a problem getting commissioned and paid for the intangible parts of their service. One possible explanatio

Objectives: Within the European Prospective Investigation into Cancer and Nutrition (EPIC) study, the performance of 24-h dietary recall (24-HDR) measurements as reference measurements in a linear regression calibration model is evaluated critically at the individual (within-centre) and aggregate (between-centre) levels by using unbiased estimates of urinary measurements of nitrogen and potassium

Background: Cadmium, a common food pollutant, alters DNA methylation in vitro. Epigenetic effects might therefore partly explain cadmium's toxicity, including carcinogenicity, but human data on epigenetic effects are lacking. Objectives: To evaluate effects of dietary cadmium exposure on DNA methylation, considering other environmental exposures, genetic predisposition, and gene expression. Meth

We report on InAs enhancement-mode field-effect transistors integrated directly on Si substrates. The transistors consist of vertical InAs nanowires, grown on Si substrates without the use of metal seed particles, and they are processed with a 50-nm-long metal wrap gate and high-kappa gate dielectric. Device characteristics showing enhancement-mode operation are reported. The output characteristic

De senast åren har produktionen alternativa drivmedel vuxit kraftigt. Drivkrafterna kan framförallt hänföras till ett växande intresse av att skydda klimatet och de politiska initiativ som följt av detta, stigande oljepriser och industriella och jordbrukspolitiska intressen. I svallvågorna av den kraftiga expansionen av biodrimvedel har dock debatten alltmer börjat ifrågasätta nyttan och effektern

The previously reported complex trans-[IrHCl{cis-1,3-bis-(di-tert-butylphosphino)methyl} cyclohexane] (2) forms the 18-electron carbonyl compound anti-[Ir(CO)HCl{cis-1,3-bis-((di-tert-butylphosphino)methyl)} cyclohexane] (5a)upon reaction with 1 atm CO. The structural isomer syn-[IrH(CO)Cl{cis-1,3-bis-((di-tert- butylphosphino)methyl)}cyclohexane] (5b)is obtained directly upon complexation of the

The aim of this study is to record, objectively describe and compare working postures of Brazilian and Norwegian construction electricians. Postures of the upper arms, head, and neck during work and breaks were quantified by means of inclinometry for a representative sample of 12 Brazilian and 12 Norwegian electricians in the construction industry during a full work-shift. Despite that differences