29 research outputs found

    Update And Guidance On Management Of Myopia. European Society Of Ophthalmology In Cooperation With International Myopia Institute

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    Authors: J. Nemeth, B. Tapaszto, W. Aclimandos, Ph. Kestelyn, J. Jonas, J-T. De Faber, I. Januleviciene, A. Grzybowski, Z. Zsolt Nagy, O. Parssinen, J. Guggenheim, P. Allen, R. Baraas, K. Saunders, D. Flitcroft, L. Gray, J. Polling, A. Haarman, J. Tideman, J. Wolffsohn, S. Wahl, J. Mulder, I. Smirnova, M Formenti, H. Radhakrishnan, S. ResnikoffThe prevalence of myopia is increasing extensively worldwide. The number of people with myopia in 2020 is predicted to be 2.6 billion globally, which is expected to rise up to 4.9 billion by 2050, unless preventive actions and interventions are taken. The number of individuals with high myopia is also increasing substantially and pathological myopia is predicted to become the most common cause of irreversible vision impairment and blindness worldwide and also in Europe. These prevalence estimates indicate the importance of reducing the burden of myopia by means of myopia control interventions to prevent myopia onset and to slow down myopia progression. Due to the urgency of the situation, the European Society of Ophthalmology decided to publish this update of the current information and guidance on management of myopia. The pathogenesis and genetics of myopia are also summarized and epidemiology, risk factors, preventive and treatment options are discussed in details

    Pooled analysis of WHO Surgical Safety Checklist use and mortality after emergency laparotomy

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    Background The World Health Organization (WHO) Surgical Safety Checklist has fostered safe practice for 10 years, yet its place in emergency surgery has not been assessed on a global scale. The aim of this study was to evaluate reported checklist use in emergency settings and examine the relationship with perioperative mortality in patients who had emergency laparotomy. Methods In two multinational cohort studies, adults undergoing emergency laparotomy were compared with those having elective gastrointestinal surgery. Relationships between reported checklist use and mortality were determined using multivariable logistic regression and bootstrapped simulation. Results Of 12 296 patients included from 76 countries, 4843 underwent emergency laparotomy. After adjusting for patient and disease factors, checklist use before emergency laparotomy was more common in countries with a high Human Development Index (HDI) (2455 of 2741, 89.6 per cent) compared with that in countries with a middle (753 of 1242, 60.6 per cent; odds ratio (OR) 0.17, 95 per cent c.i. 0.14 to 0.21, P <0001) or low (363 of 860, 422 per cent; OR 008, 007 to 010, P <0.001) HDI. Checklist use was less common in elective surgery than for emergency laparotomy in high-HDI countries (risk difference -94 (95 per cent c.i. -11.9 to -6.9) per cent; P <0001), but the relationship was reversed in low-HDI countries (+121 (+7.0 to +173) per cent; P <0001). In multivariable models, checklist use was associated with a lower 30-day perioperative mortality (OR 0.60, 0.50 to 073; P <0.001). The greatest absolute benefit was seen for emergency surgery in low- and middle-HDI countries. Conclusion Checklist use in emergency laparotomy was associated with a significantly lower perioperative mortality rate. Checklist use in low-HDI countries was half that in high-HDI countries.Peer reviewe

    Potential for non-combustible nicotine products to reduce socioeconomic inequalities in smoking: a systematic review and synthesis of best available evidence

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    While some experts have emphasised the potential for e-cigarettes to facilitate cessation among smokers with low socioeconomic status (SES), there is limited evidence of their likely equity impact. We assessed the potential for electronic cigarettes and other non-combustible nicotine-containing products (NCNPs) to reduce inequalities in smoking by systematically reviewing evidence on their use by SES in countries at stage IV of the cigarette epidemic

    Global variation in anastomosis and end colostomy formation following left-sided colorectal resection

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    Background End colostomy rates following colorectal resection vary across institutions in high-income settings, being influenced by patient, disease, surgeon and system factors. This study aimed to assess global variation in end colostomy rates after left-sided colorectal resection. Methods This study comprised an analysis of GlobalSurg-1 and -2 international, prospective, observational cohort studies (2014, 2016), including consecutive adult patients undergoing elective or emergency left-sided colorectal resection within discrete 2-week windows. Countries were grouped into high-, middle- and low-income tertiles according to the United Nations Human Development Index (HDI). Factors associated with colostomy formation versus primary anastomosis were explored using a multilevel, multivariable logistic regression model. Results In total, 1635 patients from 242 hospitals in 57 countries undergoing left-sided colorectal resection were included: 113 (6·9 per cent) from low-HDI, 254 (15·5 per cent) from middle-HDI and 1268 (77·6 per cent) from high-HDI countries. There was a higher proportion of patients with perforated disease (57·5, 40·9 and 35·4 per cent; P < 0·001) and subsequent use of end colostomy (52·2, 24·8 and 18·9 per cent; P < 0·001) in low- compared with middle- and high-HDI settings. The association with colostomy use in low-HDI settings persisted (odds ratio (OR) 3·20, 95 per cent c.i. 1·35 to 7·57; P = 0·008) after risk adjustment for malignant disease (OR 2·34, 1·65 to 3·32; P < 0·001), emergency surgery (OR 4·08, 2·73 to 6·10; P < 0·001), time to operation at least 48 h (OR 1·99, 1·28 to 3·09; P = 0·002) and disease perforation (OR 4·00, 2·81 to 5·69; P < 0·001). Conclusion Global differences existed in the proportion of patients receiving end stomas after left-sided colorectal resection based on income, which went beyond case mix alone

    An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

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    The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length dependent, hereditary motor neuropathy and rare biallelic variants in VWA1. A single disease-associated allele p.(G25Rfs*74), a 10-bp repeat expansion, was observed in 14/15 families and was homozygous in 10/15. Given an allele frequency in European populations approaching 1/1000, the seven unrelated homozygote individuals ascertained from the 100K Genomes Project represents a substantial enrichment above expected. Haplotype analysis identified a shared 220 kb region suggesting that this founder mutation arose >7000 years ago. A wide age-range of patients (6–83 years) helped delineate the clinical phenotype over time. The commonest disease presentation in the cohort was an early-onset (mean 2.0 ± 1.4 years) non-length-dependent axonal hereditary motor neuropathy, confirmed on electrophysiology, which will have to be differentiated from other predominantly or pure motor neuropathies and neuronopathies. Because of slow disease progression, ambulation was largely preserved. Neurophysiology, muscle histopathology, and muscle MRI findings typically revealed clear neurogenic changes with single isolated cases displaying additional myopathic process. We speculate that a few findings of myopathic changes might be secondary to chronic denervation rather than indicating an additional myopathic disease process. Duplex reverse transcription polymerase chain reaction and immunoblotting using patient fibroblasts revealed that the founder allele results in partial nonsense mediated decay and an absence of detectable protein. CRISPR and morpholino vwa1 modelling in zebrafish demonstrated reductions in motor neuron axonal growth, synaptic formation in the skeletal muscles and locomotive behaviour. In summary, we estimate that biallelic variants in VWA1 may be responsible for up to 1% of unexplained hereditary motor neuropathy cases in Europeans. The detailed clinical characterization provided here will facilitate targeted testing on suitable patient cohorts. This novel disease gene may have previously evaded detection because of high GC content, consequential low coverage and computational difficulties associated with robustly detecting repeat-expansions. Reviewing previously unsolved exomes using lower QC filters may generate further diagnoses

    Improving clinician decisions and communication in critical care using novel information technology

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    Introduction The electronic medical record (EMR) is presumed to support clinician decisions by documenting and retrieving patient information. Research shows that the EMR variably affects patient care and clinical decision making. The way information is presented likely has a significant impact on this variability. Well-designed representations of salient information can make a task easier by integrating information in useful patterns that clinicians use to make improved clinical judgments and decisions. Using Cognitive Systems Engineering methods, our research team developed a novel health information technology (NHIT) that interfaces with the EMR to display salient clinical information and enabled communication with a dedicated text-messaging feature. The software allows clinicians to customize displays according to their role and information needs. Here we present results of usability and validation assessments of the NHIT. Materials and Methods Our subjects were physicians, nurses, respiratory therapists, and physician trainees. Two arms of this study were conducted, a usability assessment and then a validation assessment. The usability assessment was a computer-based simulation using deceased patient data. After a brief five-minute orientation, the usability assessment measured individual clinician performance of typical tasks in two clinical scenarios using the NHIT. The clinical scenarios included patient admission to the unit and patient readiness for surgery. We evaluated clinician perspective about the NHIT after completing tasks using 7-point Likert scale surveys. In the usability assessment, the primary outcome was participant perceptions about the system’s ease of use compared to the legacy system. A subsequent cross-over, validation assessment compared performance of two clinical teams during simulated care scenarios: one using only the legacy IT system and one using the NHIT in addition to the legacy IT system. We oriented both teams to the NHIT during a 1-hour session on the night before the first scenario. Scenarios were conducted using high-fidelity simulation in a real burn intensive care unit room. We used observations, task completion times, semi-structured interviews, and surveys to compare user decisions and perceptions about their performance. The primary outcome for the validation assessment was time to reach accurate (correct) decision points. Results During the usability assessment, clinicians were able to complete all tasks requested. Clinicians reported the NHIT was easier to use and the novel information display allowed for easier data interpretation compared to subject recollection of the legacy EMR. In the validation assessment, a more junior team of clinicians using the NHIT arrived at accurate diagnoses and decision points at similar times as a more experienced team. Both teams noted improved communication between team members when using the NHIT and overall rated the NHIT as easier to use than the legacy EMR, especially with respect to finding information. Conclusions The primary findings of these assessments are that clinicians found the NHIT easy to use despite minimal training and experience and that it did not degrade clinician efficiency or decision-making accuracy. These findings are in contrast to common user experiences when introduced to new EMRs in clinical practice

    Role of nucleolar dysfunction in neurodegenerative disorders: a game of genes?

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    Into the chromatin world: Role of nuclear architecture in epigenome regulation

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    Evolutionary analysis of Slc11 mechanism of proton-coupled metal-ion transmembrane import

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