IMPDH2 : a new gene associated with dominant juvenile-onset dystonia-tremor disorder

The aetiology of dystonia disorders is complex, and next-generation sequencing has become a useful tool in elucidating the variable genetic background of these diseases. Here we report a deleterious heterozygous truncating variant in the inosine monophosphate dehydrogenase gene (IMPDH2) by whole-exome sequencing, co-segregating with a dominantly inherited dystonia-tremor disease in a large Finnish family. We show that the defect results in degradation of the gene product, causing IMPDH2 deficiency in patient cells. IMPDH2 is the first and rate-limiting enzyme in the de novo biosynthesis of guanine nucleotides, a dopamine synthetic pathway previously linked to childhood or adolescence-onset dystonia disorders. We report IMPDH2 as a new gene to the dystonia disease entity. The evidence underlines the important link between guanine metabolism, dopamine biosynthesis and dystonia.Peer reviewe

UX GUIDE - Getting to grips with user experience terminology

Each field has its own terminology, tools and working methods that, at first glance, may appear confusing. Experts often make use of professional terms that can easily be confused with one another due to, for example, the frequent use of highly specialised abbreviations. Sometimes this can lead to moments of ambiguity or even awkwardness when a customer, partner or new team member does not understand what they are being told. We compiled this guide to serve as a tool and glossary for those who are interested in user experience development and wish to understand working methods that are typically associated with them. By information and work together with other UX designers. You will also be able to network more efficiently with other UX experts when you can recognise their areas of expertise. This guide contains a concise glossary of the most common A list of sources is available in connection with each term, to allow you to read more about the topic whenever you wish

UX-OPUS - Opas käyttökokemuksen termiviidakkoon

Jokaisella alalla on oma termistönsä, työkalunsa ja työtapansa, jotka saattavat aluksi hämmentää. Asiantuntijat käyttävät usein vauhdikkaasti ammattisanastoa ja termit voivat mennä sekaisin esimerkiksi lyhenteiden tai niiden vieraskielisen taustan vuoksi. Välillä termiviidakko saattaa johtaa epäselvyyksiin tai ainakin kiusalliseen hiljaisuuteen, kun asiakas, yhteistyökumppani tai uusi tiiminjäsen putoaa kärryiltä. Koostimme tämän oppaan apuvälineeksi ja sanakirjaksi sinulle, joka olet kiinnostunut käyttökokemuksen kehittämisestä ja haluat ymmärtää mitä tarkoittavat esimerkiksi UX, CX tai UI ja millaisia työkaluja ja työtapoja niihin liittyy. Tämän oppaan lukemisen jälkeen ymmärrät paremmin miksi käyttökokemuksen kehittäminen on niin merkityksellistä ja tärkeää. Sinun on myös helpompi sekä etsiä lisää tietoa käyttökokemuksesta että työskennellä yhdessä UX-suunnittelijoiden kanssa kehitysprojekteissa. Myös verkostoituminen on helpompaa, kun tunnistat UX-alan ihmisten erikoisosaamisalueita. Oppaaseen on koostettu tiiviisti yleisimmät käyttökokemuksen tutkimiseen ja sen kehittämiseen liittyvät termit, yhteensä 31 kappaletta. Termien yhteydessä on mainittu lähteet, jotta voit halutessasi käydä lukemassa aiheesta vielä lisää

A physico-chemical characterisation of new raw materials for microcrystalline cellulose manufacturing

A detailed physico-chemical characterisation of potential new cellulose sources (rice husk, hemp stalk, and coniferous needles), and microcrystalline cellulose (MCC) manufactured from them, was made in this work. The length and the width of the cellulose crystallites were determined by wide-angle X-ray scattering (WAXS), crystallinities were studied by means of WAXS and solid state cross polarisation magic angle spinning (13)C nuclear magnetic resonance (NMR) spectroscopy, and the packing and the cross-sectional shape of the microfibrils were determined by small-angle X-ray scattering. When MCC was prepared from rice husks and hemp stalks an acceptable yield was obtained. Crystallinities obtained with solid state NMR spectroscopy and WAXS were highest for MCC prepared from hemp stalks, and lowest for rice husk MCC. The crystallite sizes of MCC samples studied in this work varied more than in those MCC samples which were prepared from conventional plant sources, and crystallite size and cellulose crystallinity were related. When taking into account rather high values of specific surface, hemp stalks and rice husks appear as a promising raw materials for MCC production

Satisfaction with Maxillary Sinus Surgery Might be Influenced by Risk Factors

Chronic rhinosinusitis (CRS) is an inflammation of the nose and paranasal sinuses lasting for ≥12 weeks. Endoscopic sinus surgery (ESS) is considered during difficult to treat CRS. The minimally invasive technique focuses on the transition areas rather than on the ostia. The aim of this study was to evaluate symptoms, the number of acute sinusitis episodes, and satisfaction after ESS with either preservation or enlargement of the maxillary sinus ostium. Thirty patients with moderate nonpolypous CRS were enrolled. Uncinectomy only and additional middle meatal antrostomy were randomized for each side of each patient and performed single blindly. The symptoms questionnaires were filled at four time intervals. Significant symptom reduction was achieved independently of operation technique. The number of acute sinusitis episodes indicating the exacerbation rate decreased significantly at 9 and, on average, 68 months postoperatively. However, the exacerbation rate began to increase after 9 months postoperatively. Three revisions were performed on the side with uncinectomy only and one on the side with additional antrostomy. Most patients reported good satisfaction with both procedures. There was a trend for patients with asthma and/or job exposure to report insignificantly more frequently no satisfaction with surgery, especially with the uncinectomy-only procedure. Both procedures seem to be efficient in providing symptom relief and satisfaction. More studies are needed to evaluate if patients with risk factors benefit more from an ostium-enlarging procedure