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Objective Within the scope of the Exposome Project for Health and Occupational Research on applying the exposome concept to working life health, we aimed to provide a broad overview of the status of knowledge on occupational exposures and associated health effects across multiple noncommunicable diseases (NCDs) to help inform research priorities. Methods We conducted a narrative review of occupational risk factors that can be considered to have "consistent evidence for an association," or where there is "limited/inadequate evidence for an association" for 6 NCD groups: nonmalignant respiratory diseases; neurodegenerative diseases; cardiovascular/metabolic diseases; mental disorders; musculoskeletal diseases; and cancer. The assessment was done in expert sessions, primarily based on systematic reviews, supplemented with narrative reviews, reports, and original studies. Subsequently, knowledge gaps were identified, e.g. based on missing information on exposure–response relationships, gender differences, critical time-windows, interactions, and inadequate study quality. Results We identified over 200 occupational exposures with consistent or limited/inadequate evidence for associations with one or more of 60+ NCDs. Various exposures were identified as possible risk factors for multiple outcomes. Examples are diesel engine exhaust and cadmium, with consistent evidence for lung cancer, but limited/inadequate evidence for other cancer sites, respiratory, neurodegenerative, and cardiovascular diseases. Other examples are physically heavy work, shift work, and decision latitude/job control. For associations with limited/inadequate evidence, new studies are needed to confirm the association. For risk factors with consistent evidence, improvements in study design, exposure assessment, and case definition could lead to a better understanding of the association and help inform health-based threshold levels. Conclusions By providing an overview of knowledge gaps in the associations between occupational exposures and their health effects, our narrative review will help setting priorities in occupational health research. Future epidemiological studies should prioritize to include large sample sizes, assess exposures prior to disease onset, and quantify exposures. Potential sources of biases and confounding need to be identified and accounted for in both original studies and systematic reviews. [ABSTRACT FROM AUTHOR]

Objectives The Network on the Coordination and Harmonisation of European Occupational Cohorts (OMEGA-NET) was set up to enable optimization of the use of industrial and general population cohorts across Europe to advance aetiological research. High-quality harmonized exposure assessment is crucial to derive comparable results and to enable pooled analyses. To facilitate a harmonized research strategy, a concerted effort is needed to catalogue available occupational exposure information. We here aim to provide a first comprehensive overview of exposure assessment tools that could be used for occupational epidemiological studies. Methods An online inventory was set up to collect meta-data on exposure assessment tools. Occupational health researchers were invited via newsletters, editorials, and individual e-mails to provide details of job-exposure matrices (JEMs), exposure databases, and occupational coding systems and their associated crosswalks to translate codes between different systems, with a focus on Europe. Results Meta-data on 36 general population JEMs, 11 exposure databases, and 29 occupational coding systems from more than 10 countries have been collected up to August 2021. A wide variety of exposures were covered in the JEMs on which data were entered, with dusts and fibres (in 14 JEMs) being the most common types. Fewer JEMs covered organization of work (5) and biological factors (4). Dusts and fibres were also the most common exposures included in the databases (7 out of 11), followed by solvents and pesticides (both in 6 databases). Conclusions This inventory forms the basis for a searchable web-based database of meta-data on existing occupational exposure information, to support researchers in finding the available tools for assessing occupational exposures in their cohorts, and future efforts for harmonization of exposure assessment. This inventory remains open for further additions, to enlarge its coverage and include newly developed tools. [ABSTRACT FROM AUTHOR]

The International Agency for Research on Cancer (IARC) classifies firefighting as possibly carcinogenic to humans, and polychlorinated biphenyls (PCBs) as carcinogens with sufficient evidence for development of melanoma in humans. We present a case report of a firefighter with melanoma and history of 33 years of occupational exposure. Based on the available epidemiological and toxicological evidence of association between being a firefighter and developing melanoma, melanoma was recognized by the Norwegian Labour and Welfare Service as an occupational disease in our patient. In 2017, melanoma was acknowledged as an occupational disease in only 8 out of 28 surveyed European countries. Melanoma should be considered as a possible occupational disease among firefighters with a history of relevant exposure. Further recognition of the occupational exposures leading to increased risk of melanoma is still needed for preventive purposes. [ABSTRACT FROM AUTHOR]

Health practitioners and decision makers in the medical and insurance systems need knowledge on the work-relatedness of burnout. To gather the most reliable information regarding burnout diagnosis and recognition in Europe, we used an 8-item standard questionnaire sent by e-mail to occupational health specialists identified via the Network on the Coordination and Harmonization of European Occupational Cohorts (OMEGA-NET) within the European Cooperation in Science and Technology (COST) Action. Participation rate was 100%, and the questionnaire was completed for 37 countries. In 14 (38%) countries burnout syndrome can be acknowledged as an occupational disease. However, only one country included burnout on the list of occupational diseases. The results showed a high variability in burnout diagnosis, in assessment of its workrelatedness, and in conditions allowing compensation of patients. These results reflect a lack of graded evidence on burnout and its determinants. The ongoing research on burnout conducted in the frame of the OMEGA-NET COST Action should be helpful through facilitating standardization of both existing and new data on burnout, a priority outcome requiring harmonization. [ABSTRACT FROM AUTHOR]

Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. Here, we fine mapped the breakpoints of a complex chromosomal rearrangement (CCR) 46,XY,t(7;8;11;13) in a patient with MBS, which revealed 41 clustered breakpoints with typical hallmarks of chromothripsis. Among 12 truncated protein‐coding genes, SEMA3A is known to bind to the MBS‐associated PLXND1. Intriguingly, the CCR also truncated PIK3CG, which in silico interacts with REVL3 encoded by the other known MBS‐gene REV3L, and with the SEMA3A/PLXND1 complex via FLT1. Additional studies of other complex rearrangements may reveal whether the multiple breakpoints in germline chromothripsis may predispose to complex multigenic disorders. [ABSTRACT FROM AUTHOR]

Background: In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as of 2016). The occurrence of abdominal wall defects has never been investigated in Greenland. Methods: The present study is based on data retrieved from three nationwide and two local registries in the Greenlandic health care system over 27 years (1989-2015). Results: We identified 33 infants with abdominal wall defects born in the study time period. All cases were reclassified to 28 cases of gastroschisis, four cases of omphalocele, and there was 1 infant in the indeterminate group. The point prevalence at birth for gastroschisis increased significantly from 8 to 35 (average 10.7) per 10,000 liveborn and -stillborn infants. Mothers below 20 years of age represented 23% of all cases and the prevalence for this group was 17 per 10,000 liveborn and stillborn. Perinatal mortality for infants with gastroschisis was high (18%), and 1 year survival was 71%. For omphalocele, the prevalence varied from 8 to 11 per 10,000 liveborn and stillborn infants. There was no increasing rate in the period, further highlighting an etiological difference between gastroschisis and omphalocele. Conclusion: This study confirms the increasing prevalence of gastroschisis in Greenland in the period from 1989 to 2015. The average was 10.7 per 10,000 liveborn and -stillborn infants and, to the best of our knowledge, this is the highest prevalence ever reported. [ABSTRACT FROM AUTHOR]