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Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3Aand H3-3B/H3F3B) [1–4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative syndrome caused by de novo heterozygous variants in either H3-3Aor H3-3B[1–4]. Here, we analyze the data of the 58 previously published individuals along 38 unpublished, unrelated individuals. In this larger cohort of 96 people, we identify causative missense, synonymous, and stop-loss variants. We also expand upon the phenotypic characterization by elaborating on the neurodevelopmental component of BLBS. Notably, phenotypic heterogeneity was present even amongst individuals harboring the same variant. To explore the complex phenotypic variation in this expanded cohort, the relationships between syndromic phenotypes with three variables of interest were interrogated: sex, gene containing the causative variant, and variant location in the H3.3 protein. While specific genotype-phenotype correlations have not been conclusively delineated, the results presented here suggest that the location of the variants within the H3.3 protein and the affected gene (H3-3Aor H3-3B)contribute more to the severity of distinct phenotypes than sex. Since these variables do not account for all BLBS phenotypic variability, these findings suggest that additional factors may play a role in modifying the phenotypes of affected individuals. Histones are poised at the interface of genetics and epigenetics, highlighting the potential role for gene-environment interactions and the importance of future research.

Artificial Intelligence (AI) and data science will play a crucial role in improving environmental sustainability, but the energy requirements of these methods will have an increasingly negative effect on the environment without sustainable design and use.

Middle ear adenomatous neuroendocrine tumors (MEANT) are rare, mainly benign neoplasms and account for less than 2% of the middle and inner ear neoplasms. There are no specific radiological or clinical findings; therefore, the diagnosis is often difficult. Biopsy prior to surgery is often proposed. The definite treatment is the complete surgical resection. We present an uncommon clinical report of a MEANT, which was treated successfully with surgical excision.

Seafaring is a hazardous occupation and the industry's complexity and globalization make its governance and regulation challenging. one way in which such challenges might be addressed is through an increased focus on the effects of business processes such as those within supply chain relations. This paper seeks to understand the role and significance of supply chain leverage in promoting health and safety management at sea, the institutional contexts in which such leverage occurs and under which circumstances it is effective. it draws on findings from a research project examining the views of seafarers and their managers on what drives the implementation of occupational health and safety (oHS) management arrangements in two shipping sectors. Essentially, these findings show that under certain conditions, supply chain relations are useful in helping to support the implementation of arrangements for oHS management on merchant vessels. However, such leverage is most likely to be effective when it operates within a wider institutional framework in which public regulation and its surveillance by regulatory authorities remain a key element. KEYWORDS: regulation, supply chains, shipping, health and safety, management. The aim of paper is to understand the role and significance of supply chain leverage in promoting health and safety management at sea, the institutional contexts in which it occurs and under which circumstances it is effective. This is a qualitative research study that examined the views of seafarers and their managers on what drives the implementation of occupational health and safety (OHS) management arrangements in two shipping sectors, namely, the independent oil and chemical tanker trade and the container trade. It is based on interviews with seafarers working on board several of these vessels and with representatives of the companies managing and operating the ships. As might be anticipated from previous theorizing of supply chain effects on OHS, the study found there to be strong evidence of its influence on OHS management arrangements on tankers. The most significant driver of this effect for both managers and seafarers appeared to be the surveillance of their OHS arrangements instituted by the heads of the supply chain--in this case the oil majors and their inspection systems. Perhaps more surprisingly, despite the more diffuse, transactional and arms-length supply arrangements in the container trade, in the one case study from this sector examined in the paper, supply chain influences on OHS were nevertheless discernable. However, it also demonstrated the positive role played by the framework for maritime regulation in determining the significance of these influences. Essentially, the results indicate that, under certain conditions, supply chain relations are useful in helping to support implementation of arrangements for OHS management on merchant vessels. However, it also more broadly demonstrates that such leverage is most likely to be effective when it operates within a wider institutional framework in which public regulation and its surveillance by regulatory authorities remains a key element. KEYWORDS: regulation, supply chains, shipping, health and safety, management. Le but de cet article est de comprendre le role et la signification du levier que represente la chaine d'approvisionnement dans la promotion de la gestion en matiere de sante et de securite en mer, de cerner les contextes institutionnels dans lesquels cela se passe ainsi que dans quelles circonstances cela est efficace. Sur le plan methodologique, la presente recherche se veut qualitative. Elle examine les points de vue des marins et de leurs gestionnaires sur ce qui conduit a la mise en place de mesures en sante et securite (OHS pour Occupational Health and Safety en anglais) dans deux secteurs du transport maritime, soit celui du transport independant du petrole et des produits chimiques ainsi que celui du transport de conteneurs. Elle repose sur des entrevues menees aupres de marins travaillant a bord de plusieurs de ces vaisseaux et de representants des compagnies qui gerent et operent ces vaisseaux. Comme il pouvait etre anticipe de la theorisation anterieure des effets de la chaine d'approvisionnement sur la sante et la securite (OHS), l'etude conclut a une forte influence de celle-ci sur les mesures de sante et securite prises par la direction dans le secteur du transport des conteneurs. Le facteur le plus significatif de cet effet, a la fois pour les gestionnaires et les marins, semble etre celui de la surveillance de leurs mesures en sante et securite de la part des directions de la chaine d'approvisionnement --dans ce cas les geants du petrole et leurs systemes d'inspection. De maniere plus surprenante, malgre des mesures d'approvisionnement plus diffuses, transactionnelles et musclees dans le secteur du transport de conteneurs, dans l'un des cas etudies dans le cadre de cette recherche, les influences de la chaine d'approvisionnement se sont averees reelles. Au surplus, notre recherche a montre le role positif joue par le cadre de la reglementation maritime dans la determination de la signification de ces influences. En conclusion, les resultats indiquent essentiellement que, sous certaines conditions, les relations dans la chaine d'approvisionnement sont utiles pour appuyer la mise-en-oeuvre de mesures en matiere de sante et securite sur les vaisseaux marchands. De plus, nos resultats demontrent generalement que ce type de levier ou de support a plus de chances d'etre efficace lorsqu'il opere dans un cadre institutionnel plus large ou la reglementation publique et sa surveillance par des organismes reglementaires sont un element-cle. MOTS-CLES : chaines d'approvisionnement, sante et securite, transport maritime, gestion. El objetivo de este articulo es comprender el rol influente y la importancia de la cadena de suministro en la promocion de la gestion de la salud y la seguridad en el mar, los contextos institucionales respectivos y las circunstancias facilitadoras. Se trata de una investigacion cualitativa que estudia los puntos de vista de los marineros y de sus superiores sobre lo que conduce a la implementacion de disposiciones de direccion respecto a la salud y seguridad ocupacional (SSO) en dos sectores del transporte maritimo, el transporte independiente de petroleo y productos qui micos y el sector de transporte de contenedores. Las entrevistas se realizaron con marinos que trabajaban a bordo de varias embarcaciones y con representantes de companias responsables de la gestion y de la operacion de dichas embarcaciones. Tal como fue anticipado a partir de estudios previos sobre los efectos de la cadena de suministro sobre la SSO, los resultados muestran evidencias solidas de dicha influencia sobre las directivas de salud y seguridad ocupacional en el sector de contenedores. El factor mas significativo de este efecto, segun los directivos y los marinos, fue la vigilancia de la aplicacion de dichas directivas de salud y seguridad ocupacional de parte de las direcciones de la cadena de suministro, en este caso, las grandes companias petroleras y sus respectivos sistemas de inspeccion. Lo mas sorprendente fue que en uno de los casos del sector estudiado en este articulo, a pesar del caracter difuso, transaccional y equitativo de los acuerdos de suministro en el comercio de contenedores, las influencias de la cadena de suministro sobre la SSO fueron aun asi perceptibles. Sin embargo, se demostro tambien el rol positivo que juega el marco normativo de regulacion maritima para determinar la importancia de dichas influencias. En conclusion, los resultados indican esencialmente que bajo ciertas condiciones, las relaciones de la cadena de suministro son utiles para sostener la implantacion de las directivas de SSO en las embarcaciones mercantiles. Sin embargo, fue tambien ampliamente demostrado que tal influencia es mas susceptible de ser eficaz cuando ella opera dentro de un cuadro institucional mas amplio dentro del cual la reglamentacion publica y su supervision por las autoridades normativas constituyen un elemento clave. PALABRAS CLAVES: cadenas de suministro, salud y seguridad, transporte maritimo, gestion., Introduction Comparisons of occupational mortality and morbidity make clear that despite improvement over time, seafaring remains among the most dangerous of occupations (Roberts, 2002). A greater incidence of occupational injury [...]

This is the third special issue of the Journal of Agricultural and Food Chemistry(JAFC) based on the Agricultural and Food Chemistry Division (AGFD) technical program, at the 262nd American Chemical Society National Meeting. This was the first national meeting held in a hybrid format, both virtually and in-person in Atlanta, Georgia, U.S.A., on August 22–26, 2021. The AGFD proudly hosted 12 symposia, including three award symposia. There were 34 sessions held in total, with 143 oral presentations and 49 poster presentations. This meeting was highly successful in terms of attendance, and technology issues experienced at the previous virtual meetings were successfully resolved.

Climate change is considered the most pressing environmental challenge of our time, being transport one of the major contributors. Consequently, transport models are required to test different urban mobility policies that can shift travel to more sustainable transport modes (e.g., active modes). This paper focuses on the development of a validated agent-based model (MATSim) applying a novel open-source methodology to generate the main input datasets, easily transferrable to any region in England. Required input datasets (synthetic population and network) are described with a high level of detail, identifying the datasets and tools used to develop them, with special interest in the simulation of cycling routes. A new attribute (quietness) ranking roads for cycling depending on their built-environment characteristics was incorporated into the MATSim bicycle extension. The results obtained in this paper show the baseline transport model of the Tyne and Wear region (England), where discrepancies up to 3.5% in transport mode shares and minimal differences in vehicle counts in urban areas were obtained, and a realistic representation of the routes chosen by the agents using bicycles is obtained. This provides the basis for the development of similar MATSim implementation in other UK regions.

A research focuses on results of two case studies of privatized Jordanian companies to explore how expatriates and training and development are used to introduce and support a process of cultural reform.The findings indicate that neither of the multinationals adopted a markedly different approach to the management of their Jordanian operations.

Memorial days of disasters represent an opportunity to evaluate the progress of recovery. This article uses sentiment analysis (SA) to assess post-disaster recovery on the 10th anniversary of L’Aquila’s earthquake using Twitter data. We have analyzed 4349 tweets from 4 to 10 April 2019 with the hashtag: #L’Aquila that we have obtained from a third-party vendor. The polarity is first defined using a supervised classification based on experts’ rules on post-disaster reconstruction and Grammarly tones. Then, this polarity is compared with the outcome of an unsupervised classification based on the pre-trained SA machine learning algorithm developed by MonkeyLearn. We have found a significant negative assessment of the post-disaster recovery process in L’Aquila. About 33.1% of the tweets had a negative polarity, followed by 29.3% tweets with a neutral polarity, 28.7% with positive polarity, and 8.9% unrelated to the anniversary. Further analysis of the tweets confirms that after 10 years, the reconstruction is still ongoing and that criticism of the recovery reported in the literature is also found in the tweets. Based on our analysis, the critical day to collect most of the data is the anniversary’s exact day. Tweets from citizens and/or news agencies, which are more likely to express the reality experienced, are therefore more useful in understanding recovery than tweets from government officials and/or governmental institutions. From the total 4349 tweets, we can state that 2488 (57%) were correctly classified by the pre-trained SA machine learning algorithm developed by MonkeyLearn, while 1861 (43%) were misclassified. It means an overall accuracy (ACC) of 57% and a misclassification rate of 43% by the algorithm. We argue that our results have the potential to serve as a benchmark that can be used to compare other post-disaster recovery processes using the same Twitter-based SA on their anniversaries.

The largest companies and trade unions tend to help employees return to work after injury and sickness. The degree of assistance companies provide lowers absence from work.

A growing number of British organizations are establishing employee development programmes (EDPs) to provide employees with educational and training opportunities. Their establishment has, to a large extent, stemmed from the [...]

Union membership among the US private sector workforce now stands at around 11 per cent and is continuing to fall. At the same time employers are increasingly introducing participative arrangements [...]

Several European laws defining workforce consultation have been established that recognize union rights to negotiations. However, employers have been given the option to withhold union recognition and thus void the consultative process. The development of a statutory system of works councils has been proposed to remedy the conflict between employer and union interests. However, reform of employment law is considered as a better alternative to promote worker interests.

Almost a quarter of the world's undernourished people live in India. We tested the effects of three nutrition-sensitive agriculture (NSA) interventions on maternal and child nutrition in India.

Encouraged by the booming economy and low unemployment rate, U.S. consumers invested billions in new homes, cars, office and retail buildings in the year 2000, boosting U.S. sales of float, [...]

Research into the management and reduction of employee absenteeism in the UK is presented. Initiatives by government and employers to introduce rehabilitation schemes and adapt the workplace for ill or injured workers are examined.

This commentary describes the rapid development of a COVID-19 data dashboard utilising existing Urban Observatory Internet of Things (IoT) data and analytics infrastructure. Existing data capture systems were rapidly repurposed to provide real-time insights into the impacts of lockdown policy on urban governance.

Nonalcoholic fatty liver disease (NAFLD) is a common form of liver disease, associated with features of the metabolic syndrome. Nonalcoholic steatohepatitis (NASH), the aggressive subtype of NAFLD, can cause progressive fibrosis leading to cirrhosis. With the obesity epidemic, there is an increased health care burden from NASH, one of the most common causes of liver transplantation in the United States. There currently are no Food and Drug Administration–approved medical therapies for NASH. There exists a need for therapeutics to correct the drivers of NASH and to reverse or halt fibrosis progression. This article reviews pharmacologic therapeutics being developed to treat NASH.

The frequency and management of anaemia in Australian adults with solid and haematological malignancies is evaluated. Anaemia is prevalent among Australian patients with cancer managed in hospital oncology units.

The threat of medical litigation continues to grow; however, within services for prostate cancer there have been no studies quantifying this observation. In this paper the authors looked at the past 12 years of both successful and unsuccessful claims for compensation, with the aim of identifying the reasons for litigation and highlight any areas that could be addressed by the urological community.

Adipocyte-derived extracellular vesicles (EVs) may serve as novel endocrine mediators of adipose tissue and impact upon vascular health. However, it is unclear whether adipocyte-derived EVs are present in the human circulation. Therefore, the purpose of this study was to seek evidence for the presence of adipocyte-derived EVs in circulating plasma. Size-exclusion chromatography of platelet-free plasma identified fractions 5 to 10 as containing EVs by a peak in particle concentration, which corresponded with the presence of EV and adipocyte proteins. Pooling fractions 5 to 10 and subjecting to ultracentrifugation yielded a plasma EV sample, as verified by transmission electron microscopy (TEM) showing EV structures and Western blotting for EV (e.g., CD9 and Alix) and adipocyte markers. Magnetic beads and a solid-phase assay were used to deplete the EV sample of the four major families of circulating EVs: platelet-derived, leukocyte-derived, endothelial-derived, and erythrocyte-derived EVs. Postdepletion samples from both techniques contained EV structures as visualized by TEM, as well as CD9, Alix, and classic adipocyte proteins. Postdepletion samples also contained a range of other adipocyte proteins from an adipokine array. Adipocyte proteins and adipokines are expressed in optimally processed plasma EV samples, suggesting that adipocyte-derived EVs are secreted into the human circulation.

Transcriptional profiles and host-response biomarkers are used increasingly to investigate the severity, subtype and pathogenesis of disease. We now describe whole-blood mRNA signatures and concentrations of local and systemic immunological mediators in 131 adults hospitalized with influenza, from whom extensive clinical and investigational data were obtained by MOSAIC investigators. Signatures reflective of interferon-related antiviral pathways were common up to day 4 of symptoms in patients who did not require mechanical ventilator support; in those who needed mechanical ventilation, an inflammatory, activated-neutrophil and cell-stress or death (‘bacterial’) pattern was seen, even early in disease. Identifiable bacterial co-infection was not necessary for this ‘bacterial’ signature but was able to enhance its development while attenuating the early ‘viral’ signature. Our findings emphasize the importance of timing and severity in the interpretation of host responses to acute viral infection and identify specific patterns of immune-system activation that might enable the development of novel diagnostic and therapeutic tools for severe influenza.

Results of a study carried out to determine the health concerns of people taking methadone have found that clients on methadone exhibited a high level of health-related concerns. This calls for a regular screening and follow-up of patients on methadone.

Energy policies implemented by local authorities and targeted at the domestic sector have focussed on interventions, which are usually selected after an optimisation procedure. This paper identifies differences and similarities between three Medium Layer Super Output Area (MLSOA) districts in the United Kingdom (UK) and draws conclusions which prove to be useful to interpret other districts in the city and provide general rules for energy efficiency measures and distributed supply interventions in Newcastle upon Tyne, UK, and potentially beyond. The core argument aims at provide an important link between the energy-reducing and energy-increasing effects of four urban morphology characteristics in ‘place-specific’ neighbourhoods. Our methodology explores the potential application of the close relation between four urban morphological characteristics and the spatial aggregated building energy end-use in the roll-out strategy of interventions. Our findings first indicate that the combination of shape and size of continuous building classes (in a building class the main residential buildings are grouped by their age and building type) and their extent using patch areas potentially simplify retrofit campaigns. We argue that the whole continuous building class influences the building's thermal mass (the building massing) and their extent (the patch area or patch in short) and these are better descriptors for the energy use in the occupational phase of a building. Second, the building massing and the plot ratio (the ratio of the building floor area to the land area in a given territory) are a better descriptors of building density/mixing of land use and built form leading to the potential use of adequate distributed energy supply. Third, the way in which social and economic factors interact to shape area-based of household energy consumption leads to a possible better spatially-enabled policies for low income families; and fourth, the layout and orientation design of the neighbourhood may identify municipal sites for potential renewable energy projects. The use of the building massing and patch areas as spatial cluster operators simplify the complexity of aggregated building energy consumption by representing its spatial incidence through a smooth continuous surface. Additionally, building classes and its patch area extent show notable differences across different sub-city areas. Furthermore, the greater the number of building classes, the more diverse is the socio-economic make-up of a sub-city area.