Controlled-release testing of the static chamber methodology for direct measurements of methane emissions

Direct measurements of methane emissions at the component level provide the level of detail necessary for the development of actionable mitigation strategies. As such, there is a need to understand the magnitude of component-level methane emission sources and to test methane quantification methods that can capture methane emissions at the component level used in national inventories. The static chamber method is a direct measurement technique that has been applied to measure large and complex methane sources, such as oil and gas infrastructure. In this work, we compile methane emission factors from the Intergovernmental Panel on Climate Change (IPCC) Emission Factor Database in order to understand the magnitude of component-level methane flow rates, review the tested flow rates and measurement techniques from 40 controlled-release experiments, and perform 64 controlled-release tests of the static chamber methodology with mass flow rates of 1.02, 10.2, 102, and 512 g h−1 of methane. We vary the leak properties, chamber shapes, chamber sizes, and use of fans to evaluate how these factors affect the accuracy of the static chamber method. We find that 99 % of the component-level methane emission rates from the IPCC Emission Factor Database are below 100 g h−1 and that 77 % of the previously available controlled-release experiments did not test for methane mass flow rates below 100 g h−1. We also find that the static chamber method quantified methane flow rates with an overall accuracy of +14/-14 % and that optimal chamber configurations (i.e., chamber shape, volume, and use of fans) can improve accuracy to below ±5 %. We note that smaller chambers (≤20 L) performed better than larger-volume chambers (≥20 L), regardless of the chamber shape or use of fans. However, we found that the use of fans can substantially increase the accuracy of larger chambers, especially at higher methane mass flow rates (≥100 g h−1). Overall, our findings can be used to engineer static chamber systems for future direct measurement campaigns targeting a wide range of sources, including landfills, sewerage utility holes, and oil and natural gas infrastructure.</p

Epidermolysis Bullosa in children: the central role of the pediatrician

Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major types are EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and more than 35 EB subtypes. Another very rare type of EB is Kindler EB (KEB). Clinically, it is a very heterogeneous disease which ranges from localized to extensive skin lesions with frequent multisystem extra cutaneous involvement. The role of a pediatrician-dermatologist cooperation within a multidisciplinary team is fundamental for both the diagnosis and management contributing to these patients' better life expectancy. Aim of this study is to describe clinical and laboratory characteristics of the main EB subtypes focusing on nutritional and gastrointestinal aspects, providing information to aid the paediatric management of children with EB. This retrospective study reviewed the cases of 160 pediatric EB patients (76 male and 84 female): 31 patients affected by EBS (mean age +/- SD: 4.37 +/- 7.14), 21 patients affected by JEB (mean age +/- SD: 9.26 +/- 17.30) and 108 with DEB (mean age +/- SD: 11.61 +/- 13.48). All patients were admitted at the Bambino Gesu Children's Hospital in Rome, between June 2005 to June 2020. The reduced gastrointestinal absorption, chronic losses, esophageal stenosis and chronic inflammatory state, represent the basis of nutritional problems of EB patients. In particular, anemia represents one of the most important complications of DEB patients which could require transfusion-dependent patterns. Malnutrition, vitamin deficiencies and anemia have been related to growth delay in EB patients. A specific diet with a balance of all macronutrients is required and improving caloric intake with sugar limitations is fundamental to prevent dental caries and tooth decay typical of EB patients. While sepsis proved to be the major cause of morbidity and mortality in younger patients, squamous cell carcinoma was mostly observed in older patients, especially those affected by DEB. Patients with EB require regular monitoring for complications and sequelae with a frequency of evaluations which varies based on age and EB subtypes. Cooperation among medical teams involving paediatricians, dermatologists, specialist clinicians including nutritionists such as families and patient's association is fundamental to approach the disease and improve the quality of life of these patients

The pattern of mucocutaneous disorders in HIV – infected children attending care and treatment centres in Dar es Salaam, Tanzania

\ud \ud HIV/AIDS is associated with a wide range of mucocutaneous disorders some of which are useful in the clinical staging and prognosis of the syndrome. There is paucity of information regarding the prevalence and pattern of mucocutaneous disorders among HIV infected children attending paediatric Care and Treatment Centres (CTC) in Dar es Salaam. To determine the prevalence and pattern of mucocutaneous disorders among HIV infected children attending public paediatric 'Care and Treatment Centres' in Dar es Salaam. This was a cross sectional descriptive study involving public paediatric 'Care and Treatment Centres' in Dar es Salaam. Clinical information was obtained using a questionnaire. Dermatological examination was carried out in daylight. Investigations were taken as appropriate. Data was analysed using the Statistical Package for Social Sciences (SPSS) program version 10.0. Chi-squared and Fisher's exact tests were utilized. A p-value of less than 0.05 was considered statistically significant. Three hundred and forty seven HIV infected children (52% males) attending CTCs were recruited into the study. Mucocutaneous disorders were encountered in 85% of them. There was no gender difference in the prevalence of the infective mucocutaneous disorders but males had a higher prevalence of non-infective/inflammatory dermatoses (58%) than females (42%) (p = 0.02). Overall, mucocutaneous disorders (infective + non infective) were more prevalent in advanced stages of HIV disease. Children with advanced HIV disease had a significantly increased frequency of fungal and viral infections (43% and 25% respectively than those with less advanced disease; 24% and 13% respectively (p = 0.01). Seventy four percent of the HIV-infected children with mucocutaneous disorders were already on ART. Mucocutaneous disorders among HIV infected children attending Care and Treatment Centres are common and highly variable. Comprehensive management should also emphasize on the management of mucocutaneous disorders

Revisiting inconsistency in large pharmacogenomic studies

In 2013, we published a comparative analysis of mutation and gene expression profiles and drug sensitivity measurements for 15 drugs characterized in the 471 cancer cell lines screened in the Genomics of Drug Sensitivity in Cancer (GDSC) and Cancer Cell Line Encyclopedia (CCLE). While we found good concordance in gene expression profiles, there was substantial inconsistency in the drug responses reported by the GDSC and CCLE projects. We received extensive feedback on the comparisons that we performed. This feedback, along with the release of new data, prompted us to revisit our initial analysis. We present a new analysis using these expanded data, where we address the most significant suggestions for improvements on our published analysis - that targeted therapies and broad cytotoxic drugs should have been treated differently in assessing consistency, that consistency of both molecular profiles and drug sensitivity measurements should be compared across cell lines, and that the software analysis tools provided should have been easier to run, particularly as the GDSC and CCLE released additional data. Our re-analysis supports our previous finding that gene expression data are significantly more consistent than drug sensitivity measurements. Using new statistics to assess data consistency allowed identification of two broad effect drugs and three targeted drugs with moderate to good consistency in drug sensitivity data between GDSC and CCLE. For three other targeted drugs, there were not enough sensitive cell lines to assess the consistency of the pharmacological profiles. We found evidence of inconsistencies in pharmacological phenotypes for the remaining eight drugs. Overall, our findings suggest that the drug sensitivity data in GDSC and CCLE continue to present challenges for robust biomarker discovery. This re-analysis provides additional support for the argument that experimental standardization and validation of pharmacogenomic response will be necessary to advance the broad use of large pharmacogenomic screens

Topical corticosteroid phobia in parents of pediatric patients with atopic dermatitis: a multicentre survey

BACKGROUND: Families of children affected with atopic dermatitis (AD) often report fear and anxiety regarding treatment with topical corticosteroids (TCS), which may lead to reduced compliance. The objective of our study was to measure, through a standardized questionnaire, fear of TCS in families of pediatric patients with AD and to identify items associated with fear. METHODS: Families of pediatric patients with AD were enrolled in 9 Italian centers of pediatric dermatology. Enrolled parents were invited to fill in a questionnaire including questions on sociodemographic and clinical characteristics and 3 sets of questions on corticosteroid phobia (general fear, specific fears, behaviours regarding TCS). Determinants of the level of general fear were investigated through multivariable analysis. RESULTS: A total of 300 outpatients with AD were enrolled. Most parents (80%) had a high instruction level. Eighty-one percent reported to have a certain amount of fear of TCS. At the multivariable analysis, fear of TCS was associated with the following items: believing that TCS treatment advantages do not overweight disadvantages (P = 0.011); believing that TCS may be dangerous independently from the specific side effect (P < 0.001). Moreover, TCS fear was associated with fear of applying too much cream (P = 0.001). CONCLUSION: TCS phobia is widespread among Italian families of children with AD. Fear of TCS is associated with fear of applying too much cream, thus increasing the risk of poor compliance and treatment failure. Therapeutic education of families on the use of TCS should be implemented. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13052-017-0330-7) contains supplementary material, which is available to authorized users

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

This guideline were initiated by DEBRA International; financial support was provided by DEBRA Austria. The generous assistance of Rebecca Bodan, Lisa Brains, Sharon Cassidy and Kelsey Townsend-Miller is gratefully acknowledged in providing patient or lay input into this guideline. The authors acknowledge the guidance of Kattya Mayre-Chilton (DEDRA International). Johann Bauer (Paracelsus University and EB House, Salzburg, Austria), Christine Bodemer (Hôpital Universitaire Necker, Paris, France), Judith Fischer (Institute of Human Genetics, University of Freiburg, Germany), Jemima Mellerio (St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K.), Francis Palisson (Universidad del Desarrollo and DEBRA, Chile), Eli Sprecher (Department of Dermatology, Tel Aviv Sourasky Medical Center, Israel) and Jouni Uitto, Leila Youssefian and Hassan Vahidnezhad (all from the Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.) are acknowledged as reviewers

Public data and open source tools for multi-assay genomic investigation of disease

Molecular interrogation of a biological sample through DNA sequencing, RNA and microRNA profiling, proteomics and other assays, has the potential to provide a systems level approach to predicting treatment response and disease progression, and to developing precision therapies. Large publicly funded projects have generated extensive and freely available multi-assay data resources; however, bioinformatic and statistical methods for the analysis of such experiments are still nascent. We review multi-assay genomic data resources in the areas of clinical oncology, pharmacogenomics and other perturbation experiments, population genomics and regulatory genomics and other areas, and tools for data acquisition. Finally, we review bioinformatic tools that are explicitly geared toward integrative genomic data visualization and analysis. This review provides starting points for accessing publicly available data and tools to support development of needed integrative methods