•We reports on 38 individual interventions from 42 studies.•Studies are marked by heterogeneity of e.g. methods, outcomes and interventions.•Some evidence suggests that interventions are ...effective.•Very little evidence suggesting interventions were harmful.•Studies highlight the challenges inherent to conducting accountability research.
A broad range of interventions have been implemented to improve ambient air quality, and many of these have been evaluated. Yet to date no systematic review has been conducted to identify and synthesize these studies. In this systematic review, we assess the effectiveness of interventions in reducing ambient particulate matter air pollution and improving adverse health outcomes.
We searched a range of electronic databases across multiple disciplines, as well as grey literature databases, trial registries, reference lists of included studies and the contents of relevant journals, through August 2016. Eligible for inclusion were randomized and cluster randomized controlled trials, as well as several non-randomized study designs often used for evaluating air quality interventions. We included studies that evaluated interventions targeting industrial, residential, vehicular and multiple sources, with respect to their effect on mortality, morbidity and the concentrations of particulate matter (PM – including PM10, PM2.5, coarse particulate matter and combustion-related PM), as well as several criteria pollutants, including ozone, carbon monoxide, nitrogen oxides, nitrogen dioxide, nitric oxide and sulphur dioxide. We did not restrict studies based on the population, setting or comparison.
Two authors independently assessed studies for inclusion, extracted data and assessed risk of bias. We assessed risk of bias using the Graphic Appraisal Tool for Epidemiological studies (GATE) for correlation studies, as modified and employed by the UK National Institute for Health and Care Excellence. We synthesized evidence narratively, as well as graphically using harvest plots. We assessed the certainty of evidence using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system.
We included 42 studies assessing 38 unique interventions. These comprised a heterogeneous mix of interventions, including those aiming to address industrial sources (n = 5; e.g. the closure of a factory), residential sources (n = 7; e.g. coal ban), vehicular sources (n = 22; e.g. low emission zones), and multiple sources (n = 4; e.g. tailored measures that target both local traffic and industrial polluters).
Evidence for effectiveness was mixed. Most included studies observed either no significant association or an association favoring the intervention, with little evidence that the assessed interventions might be harmful.
Given the heterogeneity across interventions, outcomes, and methods, it was difficult to derive overall conclusions regarding the effectiveness of interventions in terms of improved air quality or health. Some evidence suggests that interventions are associated with improvements in air quality and human health, with very little evidence suggesting interventions were harmful. The evidence base highlights the challenges related to establishing the effectiveness of specific air pollution interventions on outcomes. It also points to the need for improved study design and analysis methods, as well as more uniform evaluations. The prospective planning of evaluations and an evaluation component built into the design and implementation of interventions may also be particularly beneficial.
The health effects of traffic-related air pollution (TRAP) continue to be of important public health interest. Following its well-cited 2010 critical review, the Health Effects Institute (HEI) ...appointed a new expert Panel to systematically evaluate the epidemiological evidence regarding the associations between long-term exposure to TRAP and selected adverse health outcomes. Health outcomes were selected based on evidence of causality for general air pollution (broader than TRAP) cited in authoritative reviews, relevance for public health and policy, and resources available.
The Panel used a systematic approach to search the literature, select studies for inclusion in the review, assess study quality, summarize results, and reach conclusions about the confidence in the evidence. An extensive search was conducted of literature published between January 1980 and July 2019 on selected health outcomes. A new exposure framework was developed to determine whether a study was sufficiently specific to TRAP.
In total, 353 studies were included in the review. Respiratory effects in children (118 studies) and birth outcomes (86 studies) were the most commonly studied outcomes. Fewer studies investigated cardiometabolic effects (57 studies), respiratory effects in adults (50 studies), and mortality (48 studies).
The findings from the systematic review, meta-analyses, and evaluation of the quality of the studies and potential biases provided an overall high or moderate-to-high level of confidence in an association between long-term exposure to TRAP and the adverse health outcomes all-cause, circulatory, ischemic heart disease and lung cancer mortality, asthma onsetin chilldren and adults, and acute lower respiratory infections in children. The evidence was considered moderate, low or very low for the other selected outcomes.
In light of the large number of people exposed to TRAP – both in and beyond the near-road environment - the Panel concluded that the overall high or moderate-to-high confidence in the evidence for an association between long-term exposure to TRAP and several adverse health outcomes indicates that exposures to TRAP remain an important public health concern and deserve greater attention from the public and from policymakers.
Contact investigation and TB preventive treatment of children under five years of age who are close contacts of a TB case is a key component of TB prevention. However, the uptake of TB preventive ...treatment is low in many high-TB burden settings. This study explores factors affecting the implementation of TB contact investigation and preventive treatment among children in Malaysia's city of Kota Kinabalu, Sabah State. This study was conducted in three primary health clinics between 2019 and 2020. We purposively sampled 34 parents and guardians of child contacts eligible for TB preventive treatment, and 25 healthcare providers involved in the management of child contacts. We conducted thematic analysis of semi-structured interviews and focus group discussions to illicit factors affecting implementation and uptake of TB contact investigation and TB preventive therapy. Six main themes emerged from the analyses-four of these relating to contact investigation and two relating to TB preventive therapy. Factors affecting TB contact investigation were addressed under system related factors (external factors, stakeholder collaboration, healthcare workers' and clients' concerns), clinic related factors (perceived performance, clinic schedule, and space), healthcare worker related factors (cooperation, commitment, knowledge, misconception, counselling and communication) and patient and contact related factors (cooperation and commitment). Factors affecting TB preventive treatment delivery were addressed under guardian related factors (cooperation, commitment, knowledge and misconception) and treatment related factors (child-friendly form and adverse effects). To address gaps and barriers identified in our study, we recommend developing system capacity to maintain routine contact investigation and preventive treatment in the context of external program risks, providing training to healthcare workers to address misconceptions, safeguarding vulnerable clients against the risk of detention and deportation while accessing care, ensuring public and private services are provided regardless of migration status, and improving processes and resources for contact investigation and preventive treatment.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex ...have been implicated previously as monogenic disease genes in human developmental disorders. TAF4 has not been described to date as a monogenic disease gene. We here present a cohort of eight individuals, each carrying de novo putative loss‐of‐function (pLoF) variants in TAF4 and expressing phenotypes consistent with a neuro‐developmental disorder (NDD). Common features include intellectual disability, abnormal behavior, and facial dysmorphisms. We propose TAF4 as a novel dominant disease gene for NDD, and coin this novel disorder “TAF4‐related NDD” (T4NDD). We place T4NDD in the context of other disorders related to TFIID subunits, revealing shared features of T4NDD with other TAF‐opathies.
This study describes and evaluates improvements to the MARS crop yield forecasting system (MCYFS) for winter soft wheat (Triticum aestivum) in Europe, based on the WOFOST crop simulation model, by ...introducing autumn sowing dates, realistic soil moisture initialization, adding vernalization requirements and photoperiodicity, and phenology calibration. Dataset of phenological observations complemented with regional cropping calendars across Europe is used. The calibration of thermal requirements for anthesis and maturity is done by pooling all available observations within European agro-environmental zones and minimizing an objective function that combines the differences between observed and simulated anthesis, maturity and harvest dates. Calibrated phenology results in substantial improvement in simulated dates of anthesis with respect to the original MCYFS simulations. The combined improvements to the system result in a physically more plausible spatial distribution of crop model indicators across Europe. Crop yield indicators point to better agreement with recorded national winter wheat yields with respect to the original MCYFS simulations, most pronounced in central, eastern and southern Europe. However, model skill remains low in large parts of western Europe, which may possibly be attributed to the impacts of wet conditions.
•Improvements to phenological modeling in the MCYFS are proposed.•Field phenological observations are combined with regional cropping calendars in Europe.•Spatial calibration of winter wheat phenology on European level is performed.•Calibrated phenology improved simulated dates of anthesis and potential crop yields.•Further crop model improvements necessary to reproduce observed yield variability.
Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms ...with those observed in HNRNPH2‐related X‐linked intellectual disability, Bain type (MRXSB), specifically intellectual disability and dysmorphic features. While HNRNPH1 variants were initially proposed to represent an autosomal cause of MRXSB, we report an additional seven cases which identify phenotypic differences from MRXSB. Patients with HNRNPH1 pathogenic variants diagnosed via WES were identified using clinical networks and GeneMatcher. Features unique to individuals with HNRNPH1 variants include distinctive dysmorphic facial features; an increased incidence of congenital anomalies including cranial and brain abnormalities, genitourinary malformations, and palate abnormalities; increased incidence of ophthalmologic abnormalities; and a decreased incidence of epilepsy and cardiac defects compared to those with MRXSB. This suggests that pathogenic variants in HNRNPH1 result in a related, but distinct syndromic cause of intellectual disability from MRXSB, which we refer to as HNRNPH1‐related syndromic intellectual disability.
An anisotropic plane stress yield function based on interpolation by second order Bézier curves is proposed. The parameters for the model are readily derived by four mechanical tests: a uniaxial, an ...equi-biaxial and a plane strain tensile test and a shear test. In case of planar anisotropy, this set of tests must be repeated for a number of directions. An arbitrary number of directions can be incorporated in the model. This flexibility can be used to describe, e.g., the yield stress and
R-value as a function of the loading direction more accurately than with other common analytical yield functions. The relevance of an accurate description of the yield locus and the flexibility of the proposed yield function are demonstrated by the prediction of forming limit diagrams. It is demonstrated that the sensitivity of the FLD to small changes in the yield locus can also be used to determine some of the material parameters by inverse analysis.
The ontogeny of Robin sequence Logjes, Robrecht J. H.; Breugem, Corstiaan C.; Van Haaften, Gijs ...
American journal of medical genetics. Part A,
June 2018, 2018-06-00, 20180601, Letnik:
176, Številka:
6
Journal Article
Recenzirano
Odprti dostop
The triad of micrognathia, glossoptosis, and concomitant airway obstruction defined as “Robin sequence” (RS) is caused by oropharyngeal developmental events constrained by a reduced stomadeal space. ...This sequence of abnormal embryonic development also results in an anatomical configuration that might predispose the fetus to a cleft palate. RS is heterogeneous and many different etiologies have been described including syndromic, RS‐plus, and isolated forms. For an optimal diagnosis, subsequent treatment and prognosis, a thorough understanding of the embryology and pathogenesis is necessary. This manuscript provides an update about our current understanding of the development of the mandible, tongue, and palate and possible mechanisms involved in the development of RS. Additionally, we provide the reader with an up‐to‐date summary of the different etiologies of this phenotype and link this to the embryologic, developmental, and genetic mechanisms.
A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and cleft palate showed a nonsense mutation (Ser104stop) in exon 1 of MSX1. The mutant phenotype of the ...family is similar to that of the Msx1-mutant mouse.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
•A systematic review was conducted on associations between long-term exposure to traffic-related air pollution and non-accidental mortality.•A new exposure framework was developed to determine ...whether a study was sufficiently specific to TRAP, which includes studies beyond the near-roadway environment.•The overall confidence in the evidence for a positive association between long-term exposure to TRAP and non-accidental mortality was high.
The health effects of traffic-related air pollution (TRAP) continue to be of important public health interest across the globe. Following its 2010 review, the Health Effects Institute appointed a new expert Panel to systematically evaluate the epidemiological evidence regarding the associations between long-term exposure to TRAP and selected health outcomes. This paper describes the main findings of the systematic review on non-accidental mortality.
The Panel used a systematic approach to conduct the review. An extensive search was conducted of literature published between 1980 and 2019. A new exposure framework was developed to determine whether a study was sufficiently specific to TRAP, which included studies beyond the near-roadway environment. We performed random-effects meta-analysis when at least three estimates were available of an association between a specific exposure and outcome. We evaluated confidence in the evidence using a modified Office of Health Assessment and Translation (OHAT) approach, supplemented with a broader narrative synthesis.
Thirty-six cohort studies were included. Virtually all studies adjusted for a large number of individual and area-level covariates—including smoking, body mass index, and individual and area-level socioeconomic status—and were judged at a low or moderate risk for bias. Most studies were conducted in North America and Europe, and a few were based in Asia and Australia. The meta-analytic summary estimates for nitrogen dioxide, elemental carbon and fine particulate matter—pollutants with more than 10 studies—were 1.04 (95% CI 1.01, 1.06), 1.02 (1.00, 1.04) and 1.03 (1.01, 1.05) per 10, 1 and 5 µg/m3, respectively. Effect estimates are interpreted as the relative risk of mortality when the exposure differs with the selected increment. The confidence in the evidence for these pollutants was judged as high, because of upgrades for monotonic exposure–response and consistency across populations. The consistent findings across geographical regions, exposure assessment methods and confounder adjustment resulted in a high confidence rating using a narrative approach as well.
The overall confidence in the evidence for a positive association between long-term exposure to TRAP and non-accidental mortality was high.
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