the prevention of chronic diseases through ehealth a practical overview

Disease prevention is an umbrella term embracing individual-based or population-based interventions aimed at preventing the manifestation of diseases (primary prevention), reducing the impact of a disease that has arisen (secondary prevention), or mitigating the impact of an ongoing illness (tertiary prevention). Digital health has the potential to improve prevention of chronic diseases. Its application ranges from effective mHealth weight-loss intervention to prevent or delay the onset of diabetes in overweight adults to the cost-effective intervention on the provision of mental-health care via mobile-based or Internet-based programs to reduce the incidence or the severity of anxiety. The present contribution focuses on the effectiveness of eHealth preventive interventions and on the role of digital health in improving health promotion and disease prevention. We also give a practical overview on how eHealth interventions have been effectively implemented, developed, and delivered for the primary, secondary, and tertiary prevention of chronic diseases

Large-scale discovery of novel genetic causes of developmental disorders

Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders1, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Particularly challenging are those disorders rare enough to have eluded recognition as a discrete clinical entity, those with highly variable clinical manifestations, and those that are difficult to distinguish from other, very similar, disorders. Here we demonstrate the power of using an unbiased genotype-driven approach2 to identify subsets of patients with similar disorders. By studying 1,133 children with severe, undiagnosed developmental disorders, and their parents, using a combination of exome sequencing3,4,5,6,7,8,9,10,11 and array-based detection of chromosomal rearrangements, we discovered 12 novel genes associated with developmental disorders. These newly implicated genes increase by 10% (from 28% to 31%) the proportion of children that could be diagnosed. Clustering of missense mutations in six of these newly implicated genes suggests that normal development is being perturbed by an activating or dominant-negative mechanism. Our findings demonstrate the value of adopting a comprehensive strategy, both genome-wide and nationwide, to elucidate the underlying causes of rare genetic disorders

Selected environmental impacts of the technical production of wood chips from poplar short rotation coppice on marginal land.

The use of marginal land for Short Rotation Coppice (SRC) might contribute to a sustainable energy supply in future. We assessed the environmental impacts of common production chains for manufacturing wood chips from SRC with poplar, including all the processes necessary to produce and deliver chips to a plant gate in 50 km distance from the field site ("cradle-to-plant gate"). To do so, we carried out a Life Cycle Analysis (LCA) including upstream processes. Results showed clearly that the specific environmental impacts were mainly caused by the processes "harvesting" and "transport". Using a cut-and-chip harvesting system with a forage harvester generated low impacts during harvesting because of its high productivity. Using a cut-and-storage harvesting system with a whole rod harvester, however, didn't require accompanying tractor-trailer units during harvesting and allowed storing stems before chipping thereby, reducing the moisture content to approximately 30%. Consequently, the transport to the plant caused significantly lower environmental impacts at the same distance (50 km) which lead to a better result when looking at the overall production chain (26 vs. 36 kg CO2-eq Mgdm -1). Respective energy output to energy input ratios were 23:1 and 26:1. We also analysed the impacts of irrigation and fertigation as they might be options to increase biomass yield. Both treatments lead to considerably increased environmental impacts in all analysed categories which might be balanced only if the biomass yields increase substantially; an effect which could not be verified within the current study

Repeatability of intraocular pressure measurements with icare pro rebound, Tono-Pen AVIA and Goldmann tonometers in sitting and reclining positions

BACKGROUND: Icare Pro (ICP) is a new Rebound tonometer that is able to measure intraocular pressure (IOP) in both sitting and reclining positions. In this study, the gold standard Goldmann tonometer (GAT) was compared to ICP and Tono-Pen AVIA (TPA). Hypothesis was that repeatability of GAT is superior to ICP and TPA. METHODS: 36 eyes of 36 healthy caucasian individuals, 13 male and 26 females, 17 right and 19 left eyes have been included in this prospective, randomized, cross-sectional study. The study was conducted at a single site (Dept. of Ophthalmology, UniversityHospital Zurich, Switzerland). Primary outcome measures were Intraclass correlation coefficients (ICC) and coefficients of variation (COV) and test-retest repeatability as visualized by Bland-Altman analysis. Secondary outcome measures were IOP in sitting (GAT, ICP and TPA) and in reclining (ICP and TPA) position. RESULTS: Mean IOP measured by GAT was 14.9+/-3.5mmHg. Mean IOP measured by ICP was 15.6+/-3.1mmHg (with TPA 14.8+/-2.7mmHg) in sitting and 16.5+/-3.5mmHg (with TPA 17.0+/-3.0mmHg) in reclining positions. COVs ranged from 2.9% (GAT) to 6.9% (ICP reclining) and ICCs from 0.819 (ICP reclining) to 0.972 (GAT). CONCLUSIONS: Repeatability is good with all three devices. GAT has higher repeatability compared to the two tested hand-held devices with lowest COVs and highest ICCs. IOP was higher in the reclining compared to the sitting position.Trial registration: The study was registered to the Clinical Trials Register of the US National Institute of Health (http://www.clinicaltrials.gov NCT01325324

Long-term efficacy of combined phacoemulsification plus trabeculectomy versus phacoemulsification plus excimer laser trabeculotomy

Background Combined cataract and glaucoma procedures, and minimally-invasive glaucoma surgery in particular, have gained increasing interest over the past few years. The aim of this study was to compare the long-term efficacy of combined phaco-trabeculectomy (Phaco-Trab) and combined phacoemulsification plus excimer laser trabeculotomy (Phaco-ELT). Patients and Methods Retrospective, non-randomised, comparative, interventional case series of consecutive patients after Phaco-Trab and Phaco-ELT at the University Hospital of Zurich and the Talacker Eye Center Zurich in Switzerland. Inclusion criteria were diagnosis of glaucoma plus vision-impairing coexisting cataract. Primary outcome measures were change in intraocular pressure (IOP), number of anti-glaucoma drugs (AGDs), and best-corrected visual acuity (BCVA) 1 year and 4 years after the procedure. Secondary outcome measures were surgical complications and requirement of postoperative interventions. Success was defined based on the criteria of the Tube-versus-Trabeculectomy study. Results Mean age was 76.1 ± 8.6 years (29.2 % males; 47.8 % right eyes). Phaco-Trab (n = 62) decreased median IOP from 22.8 to 13.0 at 1 year and to 14.0 mmHg at 4 years. AGDs were reduced from 2 drugs to 0 AGDs at 1 year and 4 years. Median BCVA improved from 0.2 logMAR to 0.0 logMAR at 1 year and 4 years. Phaco-ELT (n = 51) lowered median IOP from 19.0 to 15.0 at 1 year and to 14.0 mmHg (p = 0.002) at 4 years. AGDs were reduced from 2 drugs to 1 AGD at 1 year and 4 years (p = 0.002). BCVA improved from 0.4 logMAR to 0.1 logMAR after 1 year and 4 years. If not stated otherwise, all changes compared to baseline were highly significant (p < 0.001). No perioperative complications occurred; postoperative interventions were performed in 74 % of Phaco-Trab patients. Conclusion Both surgical procedures reduced IOP and AGDs and improved BCVA significantly and persistently during the entire follow-up period of 4 years with a good safety profile. This study validates Phaco-ELT as an option when post-operative target pressure in the mid-teens would be adequate, whereas Phaco-Trab would be the treatment of choice when IOP in the low teens is desired

Long-term efficacy of combined phacoemulsification plus trabeculectomy versus phacoemulsification plus excimer laser trabeculotomy

Background Combined cataract and glaucoma procedures, and minimally-invasive glaucoma surgery in particular, have gained increasing interest over the past few years. The aim of this study was to compare the long-term efficacy of combined phaco-trabeculectomy (Phaco-Trab) and combined phacoemulsification plus excimer laser trabeculotomy (Phaco-ELT). Patients and Methods Retrospective, non-randomised, comparative, interventional case series of consecutive patients after Phaco-Trab and Phaco-ELT at the University Hospital of Zurich and the Talacker Eye Center Zurich in Switzerland. Inclusion criteria were diagnosis of glaucoma plus vision-impairing coexisting cataract. Primary outcome measures were change in intraocular pressure (IOP), number of anti-glaucoma drugs (AGDs), and best-corrected visual acuity (BCVA) 1 year and 4 years after the procedure. Secondary outcome measures were surgical complications and requirement of postoperative interventions. Success was defined based on the criteria of the Tube-versus-Trabeculectomy study. Results Mean age was 76.1 ± 8.6 years (29.2 % males; 47.8 % right eyes). Phaco-Trab (n = 62) decreased median IOP from 22.8 to 13.0 at 1 year and to 14.0 mmHg at 4 years. AGDs were reduced from 2 drugs to 0 AGDs at 1 year and 4 years. Median BCVA improved from 0.2 logMAR to 0.0 logMAR at 1 year and 4 years. Phaco-ELT (n = 51) lowered median IOP from 19.0 to 15.0 at 1 year and to 14.0 mmHg (p = 0.002) at 4 years. AGDs were reduced from 2 drugs to 1 AGD at 1 year and 4 years (p = 0.002). BCVA improved from 0.4 logMAR to 0.1 logMAR after 1 year and 4 years. If not stated otherwise, all changes compared to baseline were highly significant (p < 0.001). No perioperative complications occurred; postoperative interventions were performed in 74 % of Phaco-Trab patients. Conclusion Both surgical procedures reduced IOP and AGDs and improved BCVA significantly and persistently during the entire follow-up period of 4 years with a good safety profile. This study validates Phaco-ELT as an option when post-operative target pressure in the mid-teens would be adequate, whereas Phaco-Trab would be the treatment of choice when IOP in the low teens is desired