Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1

Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in the majority of the cases. The main clinical features are muscular atrophy and diaphragmatic palsy, which requires prompt and permanent supportive ventilation. The human disease is recapitulated in the neuromuscular degeneration (nmd) mouse. No effective treatment is available yet, but novel therapeutical approaches tested on the nmd mouse, such as the use of neurotrophic factors and stem cell therapy, have shown positive effects. Gene therapy demonstrated effectiveness in SMA, being now at the stage of clinical trial in patients and therefore representing a possible treatment for SMARD1 as well. The significant advancement in understanding of both SMARD1 clinical spectrum and molecular mechanisms makes ground for a rapid translation of pre-clinical therapeutic strategies in humans

Oral History under scrutiny in München - Cross disciplinary overtures between linguists, historians and social scientists

Heading to München at the end September offers the spectacle of cheerful Germans wearing dirndls and lederhosen, celebrating their Oktoberfest with remarkable enthusiasm and tons of good beer. This year, the Bavarian stronghold hosted another cheerful gathering of a dedicated community: a CLARIN multidisciplinary workshop in which scholars in the fields of speech technology, social sciences, human computer interaction, oral history and linguistics engaged with each others’ methods and digital tools. The idea is that as the use of language and speech is a common practice in all these scholarly fields, the use of a digital tool that is already mainstream in a parallel discipline, could open up new perspectives and approaches for searching, finding, selecting, processing and interpreting data. This was the fourth workshop supported by CLARIN ERIC, a European Research Infrastructure Consortium for Language Resources and Technology, offering a digital infrastructure that gives access to text and speech corpora and language technology tools for humanity scholars. One of CLARIN’s objectives is to reach out to social science and humanities scholars in order to assess how the CLARIN assets can be taken up by other disciplines than (computational) linguistics and language technology

Internet-Based Behavioral Interventions for Obesity: An Updated Systematic Review

The objective of this systematic review is to update a previous systematic review on the effectiveness of internet-based interventions for weight loss and weight loss maintenance in overweight and obese people with new or additional studies. A literature search from 2008 to March 2010 was conducted. Studies were eligible for inclusion if: participants were adults with a body mass index ≤ 25, at least one study arm involved an internet-based intervention and the primary aims were weight loss or maintenance. Eight additional studies over the eighteen included in the previous review met the inclusion criteria. Data were extracted on sample characteristics, attrition, weight loss, duration of treatment and maintenance of weight loss. Effect sizes (Hedges g) and relative 95% confidence intervals were calculated for all two-way comparisons within each study. No attempt was made to pool the data in a meta-analysis because of the great heterogeneity of designs among studies. An examination of effect sizes show that the higher significant effects pertain studies that found a superiority of behavioral internet-based programs enhanced by features such as tailored feedback on self-monitoring of weight, eating and activity over education only internet-based interventions. However, control groups are very different among studies and this heterogeneity probably accounts for much of the variance in effect sizes. Hence, questions still remain as to the effectiveness of web-based interventions in achieving weight loss or maintenance. Implications for further research include using a “real” control group in order to make meta-analysis possible and developing multi-factorial design in order to separate components of interventions and identify which of them or patterns of them are keys to success

Comparison of Knock Indexes Based on CFD Analysis

Abstract Recent trends in gasoline engines, such as downsizing, downspeeding and the increase of the compression ratio make knocking combustions a serious limiting factor for engine performance. A detailed analysis of knocking events can help improving the engine performance and diagnostic strategies. An effective way is to use advanced 3D Computational Fluid Dynamics (CFD) simulation for the analysis and prediction of the combustion process. The effects of Cycle to Cycle Variation (CCV) on knocking combustions are taken into account, maintaining a \RANS\ (Reynolds Averaged Navier-Stokes) \CFD\ approach, while representing a complex running condition, where knock intensity changes from cycle to cycle. The focus of the numerical methodology is the statistical evaluation of the local air-to-fuel and turbulence distribution at the spark plugs and their correlation with the variability of the initial stages of combustion. \CFD\ simulations have been used to reproduce knock effect on the cylinder pressure trace. For this purpose, the \CFD\ model has been validated, proving its ability to predict the combustion evolution with respect to \SA\ variations, from non-knocking up to heavy knocking conditions. The pressure traces simulated by the \CFD\ model are then used to evaluate cylinder pressure-based knock indexes. Since the model is able to output other knock intensity tracers, such as the mass of fuel burned in knocking mode, or the local heat transferred to the piston, knock indexes based on the cylinder pressure trace can be related to parameters only available in a simulation environment, that are likely to be more representative of the actual knock intensity, with respect to the local pressure trace for the sensor position. The possibility of simulating hundredths of engine cycle allows using the methodology to compare the indexes quality (correlation with actual knock intensity) on a statistical base

A CLARIN transcription portal for interview data

In this paper we present a first version of a transcription portal for audio files based on automatic speech recognition (ASR) in various languages. The portal is implemented in the CLARIN resources research network and intended for use by non-technical scholars. We explain the background and interdisciplinary nature of interview data, the perks and quirks of using ASR for transcribing the audio in a research context, the dos and don'ts for optimal use of the portal, and future developments foreseen. The portal is promoted in a range of workshops, but there are a number of challenges that have to be met. These challenges concern privacy issues, ASR quality, and cost, amongst others.</p

A case-crossover study of sleep, fatigue, and other transient exposures at workplace and the risk of non-fatal occupational injuries among the employees of an Italian academic hospital

Objectives: Transient exposure with acute effect has been shown to affect the risk of occupational injuries in various industrial settings and at the healthcare workplace. The objective of this study has been to identify transient exposures related to occupational injury risk in an Italian teaching hospital. Material and Methods: A case-crossover study was conducted among the employees of the University Hospital of Udine who reported an occupational injury, commuting accident, or incident involving biological risk in a 15-month period in the years 2013 and 2014. The matched-pair interval approach was used to assess the role of acute sleep deprivation whereas the usual frequency approach was used for other 13 transient exposures. Results: Sleep hours were not associated with the risk of injuries whereas a significant risk increase was associated with fatigue, rush, distraction, emergency situations, teaching to or being taught by someone, non-compliant patients, bloody operative/work field, excess noise, complex procedures, and anger. Conclusions: We identified transient exposures that increased the risk of occupational injuries in an Italian teaching hospital, providing indications for interventions to increase workers' safety at the healthcare workplace. Int J Occup Med Environ Health 2016;29(6):1001–100

Polymer Identification and Specific Analysis (PISA) of Microplastic Total Mass in Sediments of the Protected Marine Area of the Meloria Shoals

Microplastics (MPs) quantification in benthic marine sediments is typically performed by time-consuming and moderately accurate mechanical separation and microscopy detection. In this paper, we describe the results of our innovative Polymer Identification and Specific Analysis (PISA) of microplastic total mass, previously tested on either less complex sandy beach sediment or less demanding (because of the high MPs content) wastewater treatment plant sludges, applied to the analysis of benthic sediments from a sublittoral area north-west of Leghorn (Tuscany, Italy). Samples were collected from two shallow sites characterized by coarse debris in a mixed seabed of Posidonia oceanica, and by a very fine silty-organogenic sediment, respectively. After sieving at &lt;2 mm the sediment was sequentially extracted with selective organic solvents and the two polymer classes polystyrene (PS) and polyolefins (PE and PP) were quantified by pyrolysis-gas chromatography-mass spectrometry (Pyr-GC/MS). A contamination in the 8–65 ppm range by PS could be accurately detected. Acid hydrolysis on the extracted residue to achieve total depolymerization of all natural and synthetic polyamides, tagging of all aminated species in the hydrolysate with a fluorophore, and reversed-phase high performance liquid chromatography (HPLC) (RP-HPLC) analysis, allowed the quantification within the 137–1523 ppm range of the individual mass of contaminating nylon 6 and nylon 6,6, based on the detected amounts of the respective monomeric amines 6-aminohexanoic acid (AHA) and hexamethylenediamine (HMDA). Finally, alkaline hydrolysis of the residue from acid hydrolysis followed by RP-HPLC analysis of the purified hydrolysate showed contamination by polyethylene terephthalate (PET) in the 12.1–2.7 ppm range, based on the content of its comonomer, terephthalic acid

Phylogenetic position of a copper age sheep (Ovis aries) mitochondrial DNA.

Background: Sheep (Ovis aries) were domesticated in the Fertile Crescent region about 9,000-8,000 years ago. Currently, few mitochondrial (mt) DNA studies are available on archaeological sheep. In particular, no data on archaeological European sheep are available. Methodology/Principal Findings: Here we describe the first portion of mtDNA sequence of a Copper Age European sheep. DNA was extracted from hair shafts which were part of the clothes of the so-called Tyrolean Iceman or O¨ tzi (5,350 - 5,100 years before present). Mitochondrial DNA (a total of 2,429 base pairs, encompassing a portion of the control region, tRNAPhe, a portion of the 12S rRNA gene, and the whole cytochrome B gene) was sequenced using a mixed sequencing procedure based on PCR amplification and 454 sequencing of pooled amplification products. We have compared the sequence with the corresponding sequence of 334 extant lineages. Conclusions/Significance: A phylogenetic network based on a new cladistic notation for the mitochondrial diversity of domestic sheep shows that the O¨ tzi’s sheep falls within haplogroup B, thus demonstrating that sheep belonging to this haplogroup were already present in the Alps more than 5,000 years ago. On the other hand, the lineage of the O¨ tzi’s sheep is defined by two transitions (16147, and 16440) which, assembled together, define a motif that has not yet been identified in modern sheep populations