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With available genomic data and related information, it is becoming possible to better highlight mutations or genomic alterations associated with a particular disease or disorder. The advent of high-throughput sequencing technologies has greatly advanced diagnostics, prognostics, and drug development. Peptidomics and proteogenomics are the two post-genomic technologies that enable the simultaneous study of peptides and proteins/transcripts/genes. Both technologies add a remarkably large amount of data to the pool of information on various peptides associated with gene mutations or genome remodeling. Literature search was performed in the PubMed database and is up to date. This article lists various techniques used for peptidomic and proteogenomic analyses. It also explains various bioinformatics workflows developed to understand differentially expressed peptides/proteins and their role in disease pathogenesis. Their role in deciphering disease pathways, cancer research, and biomarker discovery using biofluids is highlighted. Finally, the challenges and future requirements to overcome the current limitations for their effective clinical use are also discussed. [ABSTRACT FROM AUTHOR]

Pulmonary arteriovenous malformations (PAVMs) result in preventable complications demanding specialty care. Underlying hereditary haemorrhagic telangiectasia (HHT) can be identified by genetic testing, if the diagnosis is considered. Retrospectively reviewing 152 unrelated adults with genetically confirmed HHT due to ACVRL1, ENG or SMAD4, we found that only 104/152 (68%) met a clinical diagnosis of HHT with three Curaçao criteria. The genetic diagnostic rate was similar for patients with three (104/137, 76%) or one to two (48/71, 68%; p=0.25) criteria. Of 83 unrelated probands with PAVM(s) and genetically-confirmed HHT, 20/83 (24%) had few, if any, features of HHT. Enhanced clinical suspicion, as well as HHT genetic testing, is recommended if one or more PAVMs are present. [ABSTRACT FROM AUTHOR]

Energy efficiency measures in buildings, along with maintaining indoor thermal comfort, are increasingly drawing attention. The most widely accepted indices, Predicted Mean Vote (PMV) and Percentage People Dissatisfied (PPD), have been used in this study for evaluating thermal comfort of a small office room in Delhi. Various parameters influencing thermal comfort have been measured for two months and the observations have been used for assessing the PMV and PPD, which have then been compared with the simulation results from IDA ICE 4.7 Beta software, and found to be in agreement. Moreover, a comparison of the PMV values has been done with other indices such as Tropical Summer Index (TSI) and Corrected Effective Temperature (CET). Parametric study for the office room has also been performed to predict the shifts in the comfort levels by changing types and thicknesses of wall as well as roof insulations, provision of blinds, and types of window glazing, using which, the best possible solution to enhance the thermal environment of the office room has been proposed. [ABSTRACT FROM AUTHOR]

Residential and commercial buildings together account for one-third of world’s final energy consumption, thus making energy management in buildings of considerable significance. Passive design concept that depends on climate and location can be used as an effective and economical method to reduce the energy consumption in buildings. Seven cities in India, each representative of different geographic and climatic conditions, were selected for analysis. This article studies how the peak cooling and heating load are affected by varying some of the passive design parameters for each of the seven cities. The parameters varied are wall insulation thickness, roof insulation thickness, overhang depth, window orientation, and window-to-wall ratio. Results show that optimized passive design could reduce the peak cooling and heating loads by about 50%. Shading reduces cooling loads but is found to increase heating loads. In some of the locations, both heating in winter and cooling in summer are needed and designers should adopt appropriate passive measures depending on the location. Also for the same building, evaluation of shading is done in the context of lighting energy savings. An algorithm has been developed to iteratively alter and analyze set of roller blind positions to maintain visual comfort; as a result, the corresponding potential annual energy savings due to lighting were estimated. It was also observed that even after providing visual comfort to the occupants, energy savings only reduced by approximately 1% as compared to the case when visual comfort was overlooked. [ABSTRACT FROM AUTHOR]

Alterations in the structure and function of the intestinal barrier play a role in the pathogenesis of a multitude of diseases. During the recent and ongoing coronavirus disease (COVID-19) pandemic, it has become clear that the gastrointestinal system and the gut barrier may be affected by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus, and disruption of barrier functions or intestinal microbial dysbiosis may have an impact on the progression and severity of this new disease. In this review, we aim to provide an overview of current evidence on the involvement of gut alterations in human disease including COVID-19, with a prospective outlook on supportive therapeutic strategies that may be investigated to rescue intestinal barrier functions and possibly facilitate clinical improvement in these patients. [ABSTRACT FROM AUTHOR]

Late-onset Pompe disease (LOPD) is a rare autosomal recessive glycogen storage disease that results in accumulation of glycogen in muscle cells causing muscular weakness. It causes a progressive proximal myopathy, accompanied by respiratory muscle weakness, which can lead to ventilatory failure. In untreated LOPD, the most common cause of death is respiratory failure. Patients suffering from respiratory compromise may present with symptoms of sleep-disordered breathing (SDB) before overt signs of respiratory failure. Diaphragm weakness leads to nocturnal hypoventilation, which can result in sleep disruption. Both subjective and objective sleep quality can be impaired with associated excessive daytime sleepiness (EDS). Health-related quality of life worsens as sleep disturbance increases. The mainstay of treatment for SDB and respiratory failure in LOPD is non-invasive ventilation (NIV), which aims to ensure adequate ventilation, particularly during sleep, and prevent acute hypercapnic failure. These patients are at risk of acute deterioration due to lower respiratory tract infections; effective secretion clearance and vaccination against common pathogens is an important facet of care. Whilst disease-modifying enzyme replacement therapy (ERT) delays progression of locomotor dysfunction and prolongs life, its effect on respiratory function and SDB remains unclear. There are no data demonstrating the impact of ERT on sleep quality or SDB., Competing Interests: Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/jtd-cus-2020-007). The series “5th Clinical Update Sleep” was commissioned by the editorial office without any funding or sponsorship. The authors have no conflicts of interest to declare., (2020 Journal of Thoracic Disease. All rights reserved.)