Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models.

Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient horses. A genome-wide association study (GWAS) was carried out using 670,000 SNP markers in 27 case and 42 control Quarter Horses. Two markers, encompassing a 2.5 Mb region on ECA7, were associated with the phenotype (p = 2.05 × 10-7 and 4.72 × 10-6). Within this region, caytaxin (ATCAY) was identified as a candidate gene due to its known role in Cayman Ataxia and ataxic/dystonic phenotypes in mouse models. Whole-genome sequence data in four eNAD/EDM and five unaffected horses identified 199 associated variants within the ECA7 region. MassARRAY® genotyping was performed on these variants within the GWAS population. The three variants within ATCAY were not concordant with the disease phenotype. No difference in expression or alternative splicing was identified using qRT-PCR in brainstem across the ATCAY transcript. Atcayji-hes mice were then used to conduct functional analysis in a second animal model. Histologic lesions were not identified in the central nervous system of Atcayji-hes mice. Additionally, supplementation of homozygous Atcayji-hes mice with 600 IU/day of dl-α-tocopheryl acetate (vitE) during gestation, lactation, and adulthood did not improve the phenotype. ATCAY has therefore been excluded as a candidate gene for eNAD/EDM

Experimental assessment of inter-centre variation in stopping-power and range prediction in particle therapy

Purpose: Experimental assessment of inter-centre variation and absolute accuracy of stopping-power ratio (SPR) prediction within 17 particle therapy centres of the European Particle Therapy Network. Material and methods: A head and body phantom with seventeen tissue-equivalent materials were scanned consecutively at the participating centres using their individual clinical CT scan protocol and translated into SPR with their in-house CT-number-to-SPR conversion. Inter-centre variation and absolute accuracy in SPR prediction were quantified for three tissue groups: lung, soft tissues and bones. The integral effect on range prediction for typical clinical beams traversing different tissues was determined for representative beam paths for the treatment of primary brain tumours as well as lung and prostate cancer. Results: An inter-centre variation in SPR prediction (2 sigma) of 8.7%, 6.3% and 1.5% relative to water was determined for bone, lung and soft-tissue surrogates in the head setup, respectively. Slightly smaller variations were observed in the body phantom (6.2%, 3.1%, 1.3%). This translated into inter-centre variation of integral range prediction (2 sigma) of 2.9%, 2.6% and 1.3% for typical beam paths of prostate-, lung-and primary brain-tumour treatments, respectively. The absolute error in range exceeded 2% in every fourth participating centre. The consideration of beam hardening and the execution of an independent HLUT validation had a positive effect, on average. Conclusion: The large inter-centre variations in SPR and range prediction justify the currently clinically used margins accounting for range uncertainty, which are of the same magnitude as the inter-centre variation. This study underlines the necessity of higher standardisation in CT-number-to-SPR conversion. (C) 2021 The Authors. Published by Elsevier B.V

International Consensus Guideline on Small for Gestational Age (SGA): Etiology and Management from Infancy to Early Adulthood

: This International Consensus Guideline was developed by experts in the field of SGA of 10 pediatric endocrine societies worldwide. A consensus meeting was held and 1300 articles formed the basis for discussions. All experts voted about the strengths of the recommendations. The guideline gives new and clinically relevant insights into the etiology of short stature after SGA birth, including novel knowledge about (epi)genetic causes. Besides, it presents long-term consequences of SGA birth and new treatment options, including treatment with gonadotropin-releasing hormone agonist (GnRHa) in addition to growth hormone (GH) treatment, and the metabolic and cardiovascular health of young adults born SGA after cessation of childhood-GH-treatment in comparison with appropriate control groups. To diagnose SGA, accurate anthropometry and use of national growth charts are recommended. Follow-up in early life is warranted and neurodevelopment evaluation in those at risk. Excessive postnatal weight gain should be avoided, as this is associated with an unfavorable cardio-metabolic health profile in adulthood. Children born SGA with persistent short stature < -2.5 SDS at age 2 years or < -2 SDS at age of 3-4 years, should be referred for diagnostic work-up. In case of dysmorphic features, major malformations, microcephaly, developmental delay, intellectual disability and/or signs of skeletal dysplasia, genetic testing should be considered. Treatment with 0.033-0.067 mg GH/kg/day is recommended in case of persistent short stature at age of 3-4 years. Adding GnRHa treatment could be considered when short adult height is expected at pubertal onset. All young adults born SGA require counseling to adopt a healthy lifestyle

Heliga, manliga enfald : En studie av mångfald i svensk medierad offentlighet

Denna uppsats, som har sin utgångspunkt i ett kritiskt teoretiskt perspektiv, handlar om medier och mångfald, och utforskar medierad offentlighet och demokrati. Synen på att medier spelar en betydelsefull roll i en demokrati har lett till att det uppstått vissa normativa värden och ideal. En sådan norm är att medierna skall präglas av mångfald. Mitt syfte i denna studie är därför är att undersöka mångfalden i det offentliga rummet, att kartlägga och analysera hur ämnen, klass och kön är representerat, för att på så sätt kunna bidra till fördjupad kunskap om den svenska medierade offentligheten. Mitt mål är att undersöka vilka som är primary definers i denna offentlighet samt vilka ämnen dessa människor för fram och i förlängningen försöka att se vilka implikationer detta kan ha på demokratin. Den teoretiska ram som jag har valt att arbeta med innehåller teorier om demokrati och offentlighet, mediernas normativa funktioner och värden, mångfald, makt, samt en rad olika produktionsdiskurser Begreppet mångfald diskuteras ur två perspektiv, dels innehållsmångfald och dels aktörsmångfald. Det senare begreppet dryftas utifrån klass- och genusteori samt begrepp som hegemoni. Metoden som jag har använt är kvantitativ innehållsanalys och materialet består av 348 stycken DN-debattartiklar samt 1194 stycken nyhetsartiklar från Dagens Nyheters inrikessidor. Resultatet visar att graden av mångfald, framför allt aktörsmångfald, i den svenska medierade offentligheten är relativt låg. Resultaten jämförs även, till viss del, med tidigare gjorda studier och jag kan konstatera en tillbakagång för mångfalden i den medierade offentligheten. Jag undersöker också, samt konstaterar att produktionsvillkor kan vara del av förklaringen till bristen på mångfald. En manlig elit dominerar och en konklusion är att detta leder till att den förhärskande hegemonins värden och normer regerar i den svenska medierade offentligheten, att klass- och könshierarkier samt rådande maktförhållanden reproduceras. Vidare att detta kan leda till ett demokratiskt underskott, genom det ovanifrån-perspektiv som blir följden av elitens dominans. Studien avslutas med en diskussion om normativa teorier eller företeelser som eventuellt kan minska bristen på mångfald och här står genusperspektivet i fokus

Professional Challenges in Medical Imaging for Providing Safe Medical Service

This study explores the organization of medical physicists’, radiologists’, and radiographers’ professional work and the challenges they encounter ensuring quality and safe medical service within medical imaging. A practice theory perspective was used for data collection, which consisted of 14 open interviews, and data analysis. The concept of tension was used for the interpretation of findings. Three tensions are presented in the findings: 1) between diverse general and practical understandings about the activities in practice; 2) between material-economic conditions and activity in practice, and 3) between discursive-culture conditions and activity in practice. This study found that new technology, economical rationality, and the organisation of work processes lead to fewer face-to-face meetings between different professions. Therefore, medical imaging as dispersed practices misses opportunities for learning across practices, which can lead to patient safety risks. To ensure patient safety, new forms for learning across practices are needed

Analysis of Advertising Communication of Sigulda Adventures on Instagram and Audience Research

Bakalaura darba tēma ir ““Sigulda Adventures” reklāmas komunikācijas analīze sociālajā vietnē Instagram un auditorijas pētījums”. Tūrisma aģentūra “Sigulda Adventures” izmanto sociālo vietni Instagram kā kanālu, lai reklamētu aktīvās atpūtas pakalpojumus. “Sigulda Adventures” reklāmas attēlos un reklāmas klipos izmanto dažādus vizuālos paņēmienus, lai pievērstu skatītāju uzmanību. Pētījuma mērķi ir noskaidrot, kāds saturs attēlots visbiežāk “Sigulda Adventures” attēlos un, kādi vizuālās pārliecināšanas instrumenti izmantoti “Sigulda Adventures” klipos sociālajā vietnē Instagram laika periodā no 2018.gada 1. janvāra līdz 2018.gada 1.decembrim. Kā arī noskaidrot auditorijas viedokli par “Sigulda Adventures” ievietoto saturu (attēliem un reklāmas klipiem) sociālajā vietnē Instagram. Darba teorētisko daļu veido teorija par mārketinga komunikāciju, sociālo mediju mārketingu, reklāmu, reklāmas efektivitāti, semiotiku, vizuālo semiotiku, vizuālajiem kodiem, vizuālās pārliecināšanas instrumentiem. Par darba pētnieciskajām metodēm izmantotas kvantitatīvā kontentanalīze, aptauja, daļēji strukturētā intervija, fokusa grupas intervija un reklāmas klipu semiotiskā analīze. Pētījumā secināts, lai radītu interesi “Sigulda Adventures” reklāmas klipos, tiek izcelti 3 vizuālās pārliecināšanas instrumenti – tēli, vide un vizuālais attēls. Attēlu saturs ir atkarīgs no aktuālajām tendencēm, tiek izcelti sezonāli pakalpojumi. Savukārt auditorija uzskata, ka “Sigulda Adventures” attēli un reklāmas klipi, kas ievietoti sociālajā vietnē Instagram, rada interesi, ir aicinoši un motivējoši, it īpaši tas saturs, kas veido emocionālu noskaņu un personisku saikni ar skatītāju. Darba struktūru veido: teorētiskā daļa, metodoloģija, empīriskā daļa, secinājumi, izmantotās literatūras avoti un pielikumi.Bachelor paper issue is “Analysis of Advertising Communication of Sigulda Adventures on Instagram and Audience Research”. The Sigulda Adventures travel agency uses the social site Instagram as a channel to promote active leisure services. "Sigulda Adventures" uses various visual techniques in advertising images and promotional clips to draw the attention of viewers. The goal of the study is to find out what content is most often depicted in “Sigulda Adventures” images and what visual persuasion tools are used in “Sigulda Adventures” clips on social site Instagram from January 1, 2018 to December 1, 2018. Also, find out the audience's view of the content posted by Sigulda Adventures (images and ad clips) on the social site Instagram. The theoretical part of the thesis consists of the theory of marketing communication, social media marketing, advertising, advertising efficiency, semiotics, visual semiotics, visual codes, visual persuasion tools. Quantitative content analysis, questionnaire, semi-structured interview, focus group interview, and semiotic analysis of advertising clips were used as research methods. The study concludes that creating visual interest in "Sigulda Adventures" promotional clips highlights 3 visual persuasion tools - images, environment, and visual image. Image content depends on current trends, seasonal services are highlighted. Audience, on the other hand, thinks that the images and promotional clips of “Sigulda Adventures” placed on the social site Instagram are engaging and motivating, especially the content that creates emotional mood and personal touch with the viewer. The structure of the thesis consists of: theoretical part, methodology, empirical part, conclusions, sources of literature used and appendices