Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014

The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Copenhagen, Denmark, on 12-16 October 2014. A total of 883 participants gathered to discuss the latest findings in the field. The following report was written by student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the oral presentations during the conference, and contains some of the major notable new findings reported

A blended e-health intervention for improving functional capacity in elderly patients on haemodialysis: A feasibility study

Introduction: Physical exercise showed to be beneficial for frail older adults on haemodialysis (HD). However, there are several obstacles hindering the regular practice of exercise, such as transportation difficulties, lack of time, fatigue and comorbidities. E-health in this regard has many potential advantages and could be useful for motivating HD patients to increase their level of physical activity. The aim of this study was to evaluate the feasibility of a blended e-health intervention for elderly HD patients who individually exercise at home while under remote supervision of a physiotherapist. Material and methods: Patients over 60 years of age with sufficient cognitive and motoric resources to perform a simple physical test battery and to use a tablet-computer were recruited from four HD outpatient facilities. Following baseline assessment at home, the participants were visited by a physiotherapist (PT). The PT set an individual exercise programme and explained how to use the web-based interface. During the 12 weeks of training, the PTs remotely supervised the patients' progress. At 12 weeks follow-up a second assessment took place. Results: Twenty-two patients were recruited to participate in the study. Seven patients dropped out of the blended programme and 15 patients concluded the programme. The average training frequency of the 15 participants concluding the study was 1.5 times a week [range 0.2–5.8]. The duration of a training session was between 20 and 40 min. The usability of the system was deemed positive. Regarding the efficacy of the intervention, no significant improvement of any measured parameter was found, and effect sizes were small to medium. Conclusion: A blended e-health intervention supported by a web-based application for exercising at home under remote supervision of a PT is feasible in a HD population including older patients. However, before planning a randomized controlled trial, strategies to increase the recruitment rate and the adherence to such a blended intervention should be further developed, e.g., to improve the recruitment procedures and lower the expectable drop-out rate. Furthermore, the dosage of the blended programme should be adapted to the patients' physical performance levels in future trials. The study was registered on the website clinicaltrials.gov with ID NCT04076488.ISSN:2673-253

SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome

AIMS: Wernicke-Korsakoff syndrome (WKS) is commonly associated with chronic alcohol misuse, a condition known to have multiple detrimental effects on thiamine metabolism. This study was conducted to identify genetic variants that may contribute to the development of WKS in individuals with alcohol dependence syndrome through alteration of thiamine transport into cells. METHODS: Exome sequencing data from a panel of genes related to alcohol metabolism and thiamine pathways were analysed in a discovery cohort of 29 individuals with WKS to identify possible genetic risk variants associated with its development. Variant frequencies in this discovery cohort were compared with European frequencies in the Genome Aggregation Database browser, and those present at significantly higher frequencies were genotyped in an additional cohort of 87 alcohol-dependent cases with WKS and 197 alcohol-dependent cognitively intact controls. RESULTS: Thirty non-synonymous variants were identified in the discovery cohort and, after filtering, 23 were taken forward and genotyped in the case-control cohort. Of these SLC19A1:rs1051266:G was nominally associated with WKS. SLC19A1 encodes the reduced folate carrier, a major transporter for physiological folate in plasma; rs1051266 is reported to impact folate transport. Thiamine pyrophosphate (TPP) efflux was significantly decreased in HEK293 cells, stably transfected with rs1051266:G, under thiamine deficient conditions when compared with the efflux from cells transfected with rs1051266:A (P = 5.7 × 10-11). CONCLUSION: This study provides evidence for the role of genetic variation in the SLC19A1 gene, which may contribute to the development of WKS in vivo through modulation of TPP transport in cells

SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport:Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome

AIMS: Wernicke-Korsakoff syndrome (WKS) is commonly associated with chronic alcohol misuse, a condition known to have multiple detrimental effects on thiamine metabolism. This study was conducted to identify genetic variants that may contribute to the development of WKS in individuals with alcohol dependence syndrome through alteration of thiamine transport into cells. METHODS: Exome sequencing data from a panel of genes related to alcohol metabolism and thiamine pathways were analysed in a discovery cohort of 29 individuals with WKS to identify possible genetic risk variants associated with its development. Variant frequencies in this discovery cohort were compared with European frequencies in the Genome Aggregation Database browser, and those present at significantly higher frequencies were genotyped in an additional cohort of 87 alcohol-dependent cases with WKS and 197 alcohol-dependent cognitively intact controls. RESULTS: Thirty non-synonymous variants were identified in the discovery cohort and, after filtering, 23 were taken forward and genotyped in the case-control cohort. Of these SLC19A1:rs1051266:G was nominally associated with WKS. SLC19A1 encodes the reduced folate carrier, a major transporter for physiological folate in plasma; rs1051266 is reported to impact folate transport. Thiamine pyrophosphate (TPP) efflux was significantly decreased in HEK293 cells, stably transfected with rs1051266:G, under thiamine deficient conditions when compared with the efflux from cells transfected with rs1051266:A (P = 5.7 × 10-11). CONCLUSION: This study provides evidence for the role of genetic variation in the SLC19A1 gene, which may contribute to the development of WKS in vivo through modulation of TPP transport in cells

Datasheet1_A blended e-health intervention for improving functional capacity in elderly patients on haemodialysis: A feasibility study.docx

IntroductionPhysical exercise showed to be beneficial for frail older adults on haemodialysis (HD). However, there are several obstacles hindering the regular practice of exercise, such as transportation difficulties, lack of time, fatigue and comorbidities. E-health in this regard has many potential advantages and could be useful for motivating HD patients to increase their level of physical activity. The aim of this study was to evaluate the feasibility of a blended e-health intervention for elderly HD patients who individually exercise at home while under remote supervision of a physiotherapist.Material and methodsPatients over 60 years of age with sufficient cognitive and motoric resources to perform a simple physical test battery and to use a tablet-computer were recruited from four HD outpatient facilities. Following baseline assessment at home, the participants were visited by a physiotherapist (PT). The PT set an individual exercise programme and explained how to use the web-based interface. During the 12 weeks of training, the PTs remotely supervised the patients' progress. At 12 weeks follow-up a second assessment took place.ResultsTwenty-two patients were recruited to participate in the study. Seven patients dropped out of the blended programme and 15 patients concluded the programme. The average training frequency of the 15 participants concluding the study was 1.5 times a week [range 0.2–5.8]. The duration of a training session was between 20 and 40 min. The usability of the system was deemed positive. Regarding the efficacy of the intervention, no significant improvement of any measured parameter was found, and effect sizes were small to medium.ConclusionA blended e-health intervention supported by a web-based application for exercising at home under remote supervision of a PT is feasible in a HD population including older patients. However, before planning a randomized controlled trial, strategies to increase the recruitment rate and the adherence to such a blended intervention should be further developed, e.g., to improve the recruitment procedures and lower the expectable drop-out rate. Furthermore, the dosage of the blended programme should be adapted to the patients' physical performance levels in future trials.The study was registered on the website clinicaltrials.gov with ID NCT04076488.</p