Notes

World symbiosis morning web seminar - whenever living with each other is often a win-win.
of-function and results in severe early-onset hydrops fetalis. This is the first report of an autosomal recessive ANGPT2-related disorder in humans.
Evidence for the association between fine particulate matter (PM
) and mortality among patients with tuberculosis (TB) is limited. Whether greenness protects air pollution-related mortality among patients with multidrug-resistant tuberculosis (MDR-TB) is completely unknown.

2305 patients reported in Zhejiang and Ningxia were followed up from MDR-TB diagnosis until death, loss to follow-up or end of the study (31 December 2019), with an average follow-up of 1724 days per patient. 16-day averages of contemporaneous Normalised Difference Vegetation Index (NDVI) in the 500 m buffer of patient's residence, annual average PM
and estimated oxidant capacity O
were assigned to patients regarding their geocoded home addresses. Cox proportional hazards regression models were used to estimate HRs per 10 μg/m
exposure to PM
and all-cause mortality among the cohort and individuals across the three tertiles, adjusting for potential covariates.

HRs of 1.702 (95% CI 1.680 to 1.725) and 1.169 (1.162 to 1.175) were observed for PM
associated with mortality for the full cohort and individuals with the greatest tertile of NDVI. Exposures to PM
were stronger in association with mortality for younger patients (HR 2.434 (2.432 to 2.435)), female (2.209 (1.874 to 2.845)), patients in rural (1.780 (1.731 to 1.829)) and from Ningxia (1.221 (1.078 to 1.385)). Cumulative exposures increased the HRs of PM
-related mortality, while greater greenness flattened the risk with HRs reduced in 0.188-0.194 on average.

Individuals with MDR-TB could benefit from greenness by having attenuated associations between PM
and mortality. Improving greener space and air quality may contribute to lower the risk of mortality from TB/MDR-TB and other diseases.
Individuals with MDR-TB could benefit from greenness by having attenuated associations between PM2.5 and mortality. Improving greener space and air quality may contribute to lower the risk of mortality from TB/MDR-TB and other diseases.
The QuantiFERON-
Gold Plus (QFT-Plus) assay, which features two antigen-stimulated tubes (TB1 and TB2) instead of a single tube used in previous-generation interferon-gamma release assays (IGRAs), was launched in 2016. Despite this, data regarding the assay's performance in the paediatric setting remain scarce. This study aimed to determine the performance of QFT-Plus in a large cohort of children and adolescents at risk of tuberculosis (TB) in a low-burden setting.

Cross-sectional, multicentre study at healthcare institutions participating in the Spanish Paediatric TB Research Network, including patients <18 years who had a QFT-Plus performed between September 2016 and June 2020.

Of 1726 patients (52.8% male, median age 8.4 years), 260 (15.1%) underwent testing during contact tracing, 288 (16.7%) on clinical/radiological suspicion of tuberculosis disease (TBD), 649 (37.6%) during new-entrant migrant screening and 529 (30.6%) prior to initiation of immunosuppressive treatment. Overall, the sensitivity of QFT-Plus for TBD (n=189) and for latent tuberculosis infection (LTBI, n=195) was 83.6% and 68.2%, respectively. The agreement between QFT-Plus TB1 and TB2 antigen tubes was excellent (98.9%, κ=0.961). Only five (2.5%) patients with TBD had discordance between TB1 and TB2 results (TB1+/TB2-, n=2; TB1-/TB2+, n=3). Indeterminate assay results (n=54, 3.1%) were associated with young age, lymphopenia and elevated C reactive protein concentrations.

Our non-comparative study indicates that QFT-Plus does not have greater sensitivity than previous-generation IGRAs in children in both TBD and LTBI. In TBD, the addition of the second antigen tube, TB2, does not enhance the assay's performance substantially.
Our non-comparative study indicates that QFT-Plus does not have greater sensitivity than previous-generation IGRAs in children in both TBD and LTBI. In TBD, the addition of the second antigen tube, TB2, does not enhance the assay's performance substantially.
Information is lacking on self-reported health-related quality of life (HRQoL) as a complementary outcome measure in addition to the modified Rankin scale (mRS) in young patients with ischemic stroke after endovascular thrombectomy (EVT) compared with older patients.

Data on consecutive patients with stroke who underwent thrombectomy (June 2015-2019) from a multicenter prospective registry (German Stroke Registry) were analyzed. HRQoL was measured by the European QoL-5 dimension questionnaire utility index (EQ-5D-I; higher values indicate better HRQoL) 3 months after stroke in patients aged ≤55 and >55 years. Multivariate regression analyses identified predictors of better HRQoL.

Of 4561 included patients, 526 (11.5%) were ≤55 years old. Young-onset patients had a better outcome assessed by mRS (mRS 0-2 64.3% vs 31.8%, p<0.001) and EQ-5D-I (mean 0.639 vs 0.342, p<0.001). Young survivors after EVT had fewer complaints in the EQ-5D domains mobility (p<0.001), self-care (p<0.001), usual actiassessed and targeted in rehabilitation therapies of young-onset stroke patients to improve quality of life after stroke.Current understandings of individual disease etiology and therapeutics are limited despite great need. To fill the gap, we propose a novel computational pipeline that collects potent disease gene cooperative pathways to envision individualized disease etiology and therapies. Our algorithm constructs individualized disease modules de novo, which enables us to elucidate the importance of mutated genes in specific patients and to understand the synthetic penetrance of these genes across patients. We reveal that importance of the notorious cancer drivers TP53 and PIK3CA fluctuate widely across breast cancers and peak in tumors with distinct numbers of mutations and that rarely mutated genes such as XPO1 and PLEKHA1 have high disease module importance in specific individuals. Furthermore, individualized module disruption enables us to devise customized singular and combinatorial target therapies that were highly varied across patients, showing the need for precision therapeutics pipelines. As the first analysis of de novo individualized disease modules, we illustrate the power of individualized disease modules for precision medicine by providing deep novel insights on the activity of diseased genes in individuals.Eukaryotic genomes contain many nongenic elements that function in gene regulation, chromosome organization, recombination, repair, or replication, and mutation of those elements can affect genome function and cause disease. Although numerous epigenomic studies provide high coverage of gene regulatory regions, those data are not usually exposed in traditional genome annotation and can be difficult to access and interpret without field-specific expertise. The National Center for Biotechnology Information (NCBI) therefore provides RefSeq Functional Elements (RefSeqFEs), which represent experimentally validated human and mouse nongenic elements derived from the literature. The curated data set is comprised of richly annotated sequence records, descriptive records in the NCBI Gene database, reference genome feature annotation, and activity-based interactions between nongenic regions, target genes, and each other. EGFR signaling pathway The data set provides succinct functional details and transparent experimental evidence, leverages data from multiple experimental sources, is readily accessible and adaptable, and uses a flexible data model. The data have multiple uses for basic functional discovery, bioinformatics studies, genetic variant interpretation; as known positive controls for epigenomic data evaluation; and as reference standards for functional interactions. Comparisons to other gene regulatory data sets show that the RefSeqFE data set includes a wider range of feature types representing more areas of biology, but it is comparatively smaller and subject to data selection biases. RefSeqFEs thus provide an alternative and complementary resource for experimentally assayed functional elements, with future data set growth expected.
Duchenne muscular dystrophy (DMD) is a devastating, progressive neuromuscular disease that results in cardiopulmonary failure and death. In 2018, the DMD Care Considerations guidelines were updated to improve the multidisciplinary approach to care and promote early respiratory management. We sought to evaluate the impact of a multidisciplinary clinic on access to pulmonary care and adherence to respiratory care guidelines.

Utilizing retrospective data, we assessed for pulmonary care between 2016-2019 and congruence with guidelines from March 2018-February 2019. Using a standardized visit protocol, subjects were monitored for adherence to pulmonary function testing (PFT) and polysomnography (PSG) recommendations.

Of the 84 subjects with DMD, only 51.2% had prior pulmonary involvement, and approximately one-third were seen in the year prior to clinic onset. Only 23% of subjects with a pulmonary referral completed this visit. After clinic initiation, the average age of a subject's first pulmonary contact decreased from 11.8 y to 7.9 y (
< .001), and 45% of the 77 unique clinic subjects had no previous pulmonary encounter. Adherence to PFT guidelines increased in both ambulatory (8.7% to 86.1%) and non-ambulatory subjects (25.9% to 90.1%). Approximately 79% of subjects seen in clinic either completed or had an order for PSG in the last 12 months.

Development of a multispecialty clinic expanded access to pulmonary care and evaluation in subjects with DMD. Continued care in this clinic will allow a better understanding of barriers to access and the opportunity to monitor long-term pulmonary health.
Development of a multispecialty clinic expanded access to pulmonary care and evaluation in subjects with DMD. Continued care in this clinic will allow a better understanding of barriers to access and the opportunity to monitor long-term pulmonary health.
The aim of this study was to clarify the effectiveness of pulmonary rehabilitation in patients after exacerbations of COPD and to explore the initiation timing of pulmonary rehabilitation.

Systematic review and meta-analysis were performed to assess the effects of pulmonary rehabilitation in subjects with exacerbations of COPD on mortality and readmission compared with usual care. We searched for studies published up to October 2020 in MEDLINE, Embase, Cochrane Library, and other sources. Risk of bias was assessed for the randomization process, deviations from intended interventions, missing outcome data, outcome measurements, and selection of the reported result using the Risk of Bias 2 tool. We pooled mortality and readmission data and performed comparisons between pulmonary rehabilitation and usual care. The subgroup analysis compared pulmonary rehabilitation at different start times (early ≤ 1 week from admission; and late > 1 week from admission).

We identified 10 randomized trials (1,056 participants). Our meta-analysis showed a clinically relevant reduction in readmission up to 3-6 months after pulmonary rehabilitation in both early group (4 trials, 190 subjects; risk ratio [RR] 0.58, [95% CI 0.34-0.99]) and late group (3 trials, 281 subjects; RR 0.48, [95% CI 0.32-0.71]). However, pulmonary rehabilitation had no significant effect on mortality 1 y later compared with usual care (4 trials, 765 subjects; RR 1.27, [95% CI 0.91-1.79]).

Pulmonary rehabilitation showed short-term effects for subjects with exacerbations of COPD even if initiated within 1 week; however, further study is required to determine its long-term effects.
Pulmonary rehabilitation showed short-term effects for subjects with exacerbations of COPD even if initiated within 1 week; however, further study is required to determine its long-term effects.
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