Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).

The technique and results of a tunnelled lateral fasciocutaneous flap with a skin island is described in immediate partial breast reconstruction in a subpopulation in oncoplastic breast surgery. Fifteen patients were operated on from January 2008 to January 2011. The subpopulation consisted of patients with small or medium-sized breasts. All patients had invasive ductal carcinomas, located in the

In this paper, we investigate how lexical tones interact with intonation, using data from the Austroasiatic language Kammu, one of few languages with two dialects whose only major phonological difference is the presence or absence of lexical tones. Northern (and Western) Kammu have developed tones in connection with the merger of voiceless and voiced initial consonants, while the non-tonal Eastern

Introduction. In children treated surgically for first-time perianal abscesses, discovery and excision of concomitant fistulas may also be warranted. Aim. To evaluate children of varying age after incision and drainage of first-time perianal abscesses, examining recurrences rates with and without search for a fistula. Method. A retrospective review was conducted, analyzing children (ages 0-15 year

Persistent organic pollutants (POPs) may affect male reproductive function. Many dioxin-like POPs exert their effects by activation of the aryl hydrocarbon receptor (AHR) signalling pathway. We analysed whether gene-environment interactions between polymorphisms in AHR (R554K) and AHR repressor (AHRR P185A) and serum levels of markers of POP exposure 1,1-bis-(4-chlorophenyl)-2,2-dichloroethene (p,

Synaptic degeneration and accumulation of the neurotoxic amyloid β-peptide (Aβ) in the brain are hallmarks of Alzheimer disease. Aβ is produced by sequential cleavage of its precursor protein, APP, by the β-secretase BACE1 and γ-secretase. However, Aβ generation is precluded if APP is cleaved by the α-secretase ADAM10 instead of BACE1. We have previously shown that Aβ can be produced locally at th

The mushroom Coprinopsis cinerea is a classic experimental model for multicellular development in fungi because it grows on defined media, completes its life cycle in 2 weeks, produces some 10(8) synchronized meiocytes, and can be manipulated at all stages in development by mutation and transformation. The 37-megabase genome of C. cinerea was sequenced and assembled into 13 chromosomes. Meiotic re

Objective. The purpose of this experimental study was to elucidate alterations in fetal energy metabolism in relation to ECG changes during extreme fetal asphyxia, postnatal resuscitation and the immediate post-resuscitatory phase. Study design. Five near-term fetal sheep were subjected to umbilical cord occlusion until cardiac arrest followed by delivery, resuscitation and postnatal pressure-cont

The growth rate of atmospheric carbon dioxide (CO2) concentrations since industrialization is characterized by large interannual variability, mostly resulting from variability in CO2 uptake by terrestrial ecosystems (typically termed carbon sink). However, the contributions of regional ecosystems to that variability are not well known. Using an ensemble of ecosystem and land-surface models and an

Objective: Evidence points to a decreased breast cancer risk in systemic lupus erythematosus (SLE). We analyzed data from a large multisite SLE cohort, linked to cancer registries. Methods: Information on age, SLE duration, cancer date, and histology was available. We analyzed information on histological type and performed multivariate logistic regression analyses of histological types according t

Off-gases generated during steelmaking are to a large extent used as fuels in process units within the plant. The surplus gases are commonly supplied to a plant for combined heat and power production. The main objective of this study has been to techno-economically investigate the feasibility of an innovative way of producing methanol from these off-gases, thereby upgrading the economic value of t

Storm water quality was monitored at four sites in a middle-sized Swedish town. The objective was to compare storm water pollution in the first flush storm water runoff between sites with different traffic intensities within a town. Flow proportional storm water runoff samples were collected. The samples were analyzed for suspended solids, conductivity, total nitrogen, total phosphorus, oil index,

Aim To investigate whether socio-economic status (SES) in childhood and school failure at 15 years of age predict illicit drug abuse in youth and young adulthood. Design setting and participantsRegister study in a Swedish national cohort born 1973-88 (n=1405763), followed from age 16 to 20-35 years. Cox regression analyses were used to calculate hazard ratios (HR) for any indication of drug abuse.

Purpose – This study maintains that there is a need for proper execution of coordination mechanisms as a means to reduce waste. The purpose of this paper is to explore the relationship between the coordination of activities and resources on the one hand, and the occurrence of different types of waste on the other. Design/methodology/approach – The empirical context of this paper is a case study a

We present temperature dependent electrical measurements on InSb and InAs nanowire field-effect transistors (FETs). The FETs are fabricated from InAs/InSb heterostructure nanowires, where one complete transistor is defined within each of the two segments. Both the InSb and the InAs FETs are n-type with good current saturation and low voltage operation. The off-current for the InSb FET shows a stro