Malawian Prosthetic and Orthotic Users’ Mobility and Satisfaction with their Lower Limb Assistive Device

Objective: To investigate patients’ mobility and satisfaction with their lower limb prosthetic or orthotic device and related service delivery in Malawi and to compare groups of patients regarding type and level of device and demographics. Methods: Questionnaires were used to collect self-report data from 83 patients. Results: Ninety percent of prostheses or orthoses were in use by patients, but approximately half of these needed repair. Thirty-nine percent reported pain when using their assistive device. The majority of patients were able to rise from a chair (77%), move around the home (80%), walk on uneven ground (59%) and travel by bus or car (56%). However, patients had difficulties walking up and down hills (78%) and stairs (60%). In general, patients were quite satisfied with their assistive device (mean of 3.9 out of 5) and very satisfied with the service provided (mean of 4.4 out of 5). Access to repairs and servicing were rated as most important, followed by durability and follow-up services. Lack of finances to pay for transport was a barrier to accessing the prosthetic and orthotic centre. Conclusion: Patients were satisfied with the assistive device and service received, despite reporting pain associated with use of the device and difficulties ambulating on challenging surfaces.ReferenceMagnusson L, Ahlström G, Ramstrand N, Fransson EI. Malawian Prosthetic and Orthotic Users’ Mobility and Satisfaction with their Lower – Limb Assistive Device J Rehabil Med. 2013; 45: 385–391. https://www.medicaljournals.se/jrm/content/abstract/10.2340/16501977-111

Creating lasting relationships between a purchasing organization and suppliers

Den svenska skogsindustrin utgör en viktig hörnsten för landets välfärd. För att industrierna ska vara verksamma krävs tillräckliga volymer av skoglig råvara, vilket kan innebär att skogsbolagen hamnar i en beroendeställning gentemot de privata skogsägarna. Detta i samband med att förhandlingsstyrkan mellan kund och leverantör inom skogsbranschen kan anses skilja sig från andra branscher, vilket gjorde det intressant att skapa en bättre förståelse inom virkesleverantörers val av skoglig samarbetsparter och inköpsorganisation. Studien syftar till att förklara villkor avseende leverantörers val av samarbetspartner ur ett relationsperspektiv. Därtill berör frågeställningarna vilka faktorer som påverkar affärsrelationens varaktighet samt hur inköpare skapar tillfredsställelse, förtroende och tillit. En induktiv fallstudie med en kvalitativ inriktning utgjorde studiens metod. Studiens datainsamling genomfördes via en litteraturstudie samt nitton semistrukturerade telefonintervjuer. För att bidra till en djupare insikt i de faktorer vilka påverkar virkesleverantörers val av inköpsorganisation genomfördes intervjuerna både med virkesleverantörer och inköpare av skoglig råvara. Studiens resultat påvisade att virkesleverantörerna anser det viktigt att samarbetspartnern, med andra ord inköparen av skoglig råvara, innehar goda kunskaper inom det skogliga området samt agerar på ett trevligt, ärligt och professionellt sätt. Inköpsorganisationens tjänsteerbjudande påverkar även leverantörernas val, tjänsteerbjudandet skall fördelaktigt innefatta ett komplett helhetserbjudande av de skogliga åtgärderna, inklusive skoglig rådgivning. Majoriteten av studiens medverkande virkesleverantörer ansåg det önskvärt att ingå i varaktiga affärsrelationer, på grund av en ökande säkerhet och via de fördelar som uppstår genom att inköparen får en förbättrade inblick i leverantörens behov. Tillfredsställelse, förtroende och tillit kan enligt respondenterna skapas mellan parterna genom personliga möten och kontinuerlig kommunikation samt även via en rådgivande, ärlig, kompetent och seriös inköpare.The Swedish forest industry is an important pillar for the country's welfare. In order to be active the industries requires large volumes of forest raw materials, which may mean that the forest companies is in a position of dependence on private forest owners to obtain sufficient volumes of wood. This, combined with the distinction of distribution-power between customer and supplier in the forest sector in different from other industries, made it interesting to create a better understanding regarding supplier choice of purchasing organization. The study aims to explain the terms regarding suppliers' choice of partner from a relationship perspective. In addition, review which factors influence the business relationship's duration and how buyers create satisfaction, confidence and trust between the partners. The study´s methodology consisted of an inductive case study with a qualitative approach. Though a literature review data was collected to obtain relevant information within the subject and thereby a better understanding of the research field was created. To contribute to a greater understanding semi-structured telephone interviews with both wood suppliers and buyers of forest raw materials was conducted. The study results showed that the respondents consider it important that the buyer, holds a good knowledge of silviculture as well as act in a professional manner. Purchasing organization's service offering also affects the suppliers' choice, the service offering to be beneficial to include a complete comprehensive offer of the forest activities, including forest advisory services. The majority of the suppliers considered long-lasting business relationships to hold advantageous, because of the increasing safety and the positive effects arising from the buyer greater insight into the supplier's needs. According to the respondents satisfaction, trust and confidence, can be created between the parties through personal meetings and ongoing communication as well as through a consultative, honest, competent and serious buyer

Economic effects of lead-time on timber sales

Virkesaffärer går idag till på olika sätt när skogföretag köper virke från skogsägare. Det finns fyra försäljningsformer, varav avverkningsuppdrag är den vanligaste. Betalningstidpunkten för en virkesaffär kan variera. Om betalningen sker först efter allt virke har blivit inmätt har ledtiden, och därmed transportledtiden, en stor betydelse för betalningstidpunkten. Huvudsyftet med studien var att undersöka transportledtiden och fastställa ränteförlusten som uppstår på grund av transportledtiden vid en virkesaffär, i de fall där betalning sker då allt virke är slutmätt. Fyra delsyften vilka även besvarades i denna studie var följande: 1. Varierar transportledtiden med avseende på årstid? 2. Varierar transportledtiden med avseende på sortiment? 3. Finns det ett samband mellan en trakts volym och transportledtiden? 4. Bör skogsägare välja olika kontraktsformer beroende på transportledtiden? Materialet till studien samlades in från skogsföretag, banker och officiell statistik. Informationen bestod av bland annat registerdata och standardkontrakt för virkesaffärer. Kvantitativa analyser och en kvalitativ analys utfördes för att besvara studiens syfte. Det konstaterades i rapporten att skogsägare drabbades av en liten ränteförlust då en transportledtid förekom. Förlusten ansågs försumbar i relation till förlusten orsakad av till exempel krympning. Ett sätt för skogsägaren att minska förluster orsakade av krympning och inkurans vore att använda sig av skördarmätning. Skogsägaren bör vid kontraktskrivning begära förskottsbetalning eller kompensation för utebliven ränteinkomst. I studien kunde det statistiskt säkerställas att en trakts transportledtid påverkades av vilken årstid hämtning påbörjades, sortimentsindelning och traktens totala volym.Today, the form of timber trades between forest companies and forest owners differ. Out of the four forms of selling, logging contract is the most common. The payment date for a timber sale may vary. If payment isn’t made until all wood has been measured, the lead-time, and thus transportation lead-time, is a crucial factor in determining the final date of payment. The main objective of this study was to investigate the transportation lead-time and to determine the loss of interest due to the transportation lead-time of timber sales when the payment is made after all the wood has been measured. The four questions answered in this study were: 1. Does transportation lead-time depend on the season? 2. Does transportation lead-time depend on the sort of timber? 3. Is there a relationship between the site’s volume and the transportation lead-time? 4. Should forest owners take transportation lead-time in consideration when signing a contract? The material for the study was collected from forest companies, banks and official statistics. The information consisted of register data and standard contracts for timber purchases. To answer the research questions quantitative analyses and a qualitative analysis were conducted. It was established that forest owners suffer a small loss of interest when a transportation lead-time occurred. However, the loss of interest due to the transportation lead-time was considered negligible in relation to the loss from shrinkage etcetera. The forest owner could for example use harvester measurement, since this would decrease his losses due to shrinkage and obsolescence. When contracting, the forest owner should request an advance payment or compensation for his interest loss. The investigation of the transportation lead-time showed that the season, the sort of timber and the volume are all significantly related to the transportation lead-time

Examining neurodevelopmental problems in 15q11.2 ( BP1‐BP2 ) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample

Background: Several copy number variations (CNVs) are associated with increased risk for neurodevelopmental and psychiatric disorders. The CNV 15q11.2 (BP1‐BP2) deletion has been associated with learning difficulties, attention deficit hyperactivity disorder (ADHD), epilepsy, and brain morphology; however, many carriers present mild or no symptoms. Carrying the reciprocal duplication does not seem to confer risk for these disorders or traits. Our aim was to examine the impact of carrying either 15q11.2 deletion and reciprocal duplication on neurodevelopmental problems in a population‐based sample of children. Methods: Twins with genotype and phenotype information in the Child and Adolescent Twin Study in Sweden (CATSS) were included (N = 12,040). We included measures of neurodevelopmental problems (NDPs), including learning problems, from the questionnaire Autism–Tics, ADHD, and other Comorbidities inventory (A‐TAC) at age 9/12, ADHD and autism spectrum disorder (ASD) questionnaires at age 18, as well as information about lifetime psychiatric diagnoses and epileptic seizures. We tested the association between these phenotypic measurements and carrying the 15q11.2 deletion, the reciprocal duplication, and other CNVs with previously reported strong associations with neurodevelopmental and psychiatric disorders (i.e., psychiatric CNVs). Results: We identified 57 carriers of the 15q11.2 deletion, 75 carriers of the reciprocal duplication, and 67 carriers of other psychiatric CNVs. We did not find an increased risk for NDPs or psychiatric diagnoses in the 15q11.2 deletion carriers. For 15q11.2 duplication carriers, we found an increased risk for math learning problems and fewer self‐reported ADHD symptoms at age 18 but not for other NDPs. In line with previous studies, we found an increased risk of NDPs and other evaluated phenotypes in carriers of psychiatric CNVs. Conclusions: Our results support previous findings that carrying 15q11.2 deletion does not have a large effect on NDPs in children

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. In 8 of 45 VWS-affected families lacking a mutation in IRF6, we found coding mutations in grainyhead-like 3 (GRHL3). According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations. In mouse, all embryos lacking Grhl3 exhibited abnormal oral periderm and 17% developed a cleft palate. Analysis of the oral phenotype of double heterozygote (Irf6+/−;Grhl3+/−) murine embryos failed to detect epistasis between the two genes, suggesting that they function in separate but convergent pathways during palatogenesis. Taken together, our data demonstrated that mutations in two genes, IRF6 and GRHL3, can lead to nearly identical phenotypes of orofacial cleft. They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS

Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome

Objectives Clinical presentation of primary Sjögren’s syndrome (pSS) varies considerably. A shortage of evidence-based objective markers hinders efficient drug development and most clinical trials have failed to reach primary endpoints. Methods We performed a multicentre study to identify patient subgroups based on clinical, immunological and genetic features. Targeted DNA sequencing of 1853 autoimmune-related loci was performed. After quality control, 918 patients with pSS, 1264 controls and 107 045 single nucleotide variants remained for analysis. Replication was performed in 177 patients with pSS and 7672 controls. Results We found strong signals of association with pSS in the HLA region. Principal component analysis of clinical data distinguished two patient subgroups defined by the presence of SSA/SSB antibodies. We observed an unprecedented high risk of pSS for an association in the HLA-DQA1 locus of odds ratio 6.10 (95% CI: 4.93, 7.54, P=2.2×10−62) in the SSA/SSB-positive subgroup, while absent in the antibody negative group. Three independent signals within the MHC were observed. The two most significant variants in MHC class I and II respectively, identified patients with a higher risk of hypergammaglobulinaemia, leukopenia, anaemia, purpura, major salivary gland swelling and lymphadenopathy. Replication confirmed the association with both MHC class I and II signals confined to SSA/SSB antibody positive pSS. Conclusion Two subgroups of patients with pSS with distinct clinical manifestations can be defined by the presence or absence of SSA/SSB antibodies and genetic markers in the HLA locus. These subgroups should be considered in clinical follow-up, drug development and trial outcomes, for the benefit of both subgroups.publishedVersio

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

Peer reviewe

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

The length of female reproductive lifespan is associated with multiple adverse outcomes, including breast cancer, cardiovascular disease and infertility. The biological processes that govern the timing of the beginning and end of reproductive life are not well understood. Genetic variants are known to contribute to ∼50% of the variation in both age at menarche and menopause, but to date the known genes explain <15% of the genetic component. We have used genome-wide association in a bivariate meta-analysis of both traits to identify genes involved in determining reproductive lifespan. We observed significant genetic correlation between the two traits using genome-wide complex trait analysis. However, we found no robust statistical evidence for individual variants with an effect on both traits. A novel association with age at menopause was detected for a variant rs1800932 in the mismatch repair gene MSH6 (P = 1.9 × 10−9), which was also associated with altered expression levels of MSH6 mRNA in multiple tissues. This study contributes to the growing evidence that DNA repair processes play a key role in ovarian ageing and could be an important therapeutic target for infertilit