Essential Biodiversity Variables (EBVs) consolidate information from varied biodiversity observation sources. Here we demonstrate the links between data sources, EBVs and indicators and discuss how ...different sources of biodiversity observations can be harnessed to inform EBVs. We classify sources of primary observations into four types: extensive and intensive monitoring schemes, ecological field studies and satellite remote sensing. We characterize their geographic, taxonomic and temporal coverage. Ecological field studies and intensive monitoring schemes inform a wide range of EBVs, but the former tend to deliver short-term data, while the geographic coverage of the latter is limited. In contrast, extensive monitoring schemes mostly inform the population abundance EBV, but deliver long-term data across an extensive network of sites. Satellite remote sensing is particularly suited to providing information on ecosystem function and structure EBVs. Biases behind data sources may affect the representativeness of global biodiversity datasets. To improve them, researchers must assess data sources and then develop strategies to compensate for identified gaps. We draw on the population abundance dataset informing the Living Planet Index (LPI) to illustrate the effects of data sources on EBV representativeness. We find that long-term monitoring schemes informing the LPI are still scarce outside of Europe and North America and that ecological field studies play a key role in covering that gap. Achieving representative EBV datasets will depend both on the ability to integrate available data, through data harmonization and modeling efforts, and on the establishment of new monitoring programs to address critical data gaps.
•Terrestrial biodiversity observations can be organized into four types.•These types differ in taxonomic, geographic, and temporal coverage.•The representativeness of EBV datasets is affected by the underlying types of data.•Global datasets of population abundance are affected by the lack of long-term data.•New monitoring programs must address critical data gaps.
Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of DDX3X ...variants in two unrelated girls with clinical features of Toriello–Carey Syndrome (T‐CS). In patient 1, the recurrent variant c.1703C>T; p.(P568L) was identified when reconsidering X‐linked de novo heterozygous variants in exome sequencing data. In patient 2, the DDX3X variant c.1600C>G; p.(R534G) was also detected by exome sequencing. Based on these data, de novo heterozygous DDX3X variants should be considered not only in females with unexplained ID, but also in individuals with a clinical diagnosis of T‐CS.
Abstract
Background
Indigenous Peoples are impacted by industrial resource development that takes place on, or near, their communities. Existing literature on impacts of industrial resource ...development on Indigenous Peoples primarily focus on physical health outcomes and rarely focus on the mental health impacts. To understand the full range of long-term and anticipated health impacts of industrial resource development on Indigenous communities, mental health impacts must be examined. It is well-established that there is a connection between the environment and Indigenous wellbeing, across interrelated dimensions of mental, physical, emotional, and spiritual health.
Methods
This paper identifies how the Community Advisory Team and a team of Indigenous and settler scholars will conduct the review. The literature search will use the OVID interface to search Medline, Embase, PsycINFO, and Global Health databases. Non-indexed peer-reviewed journals related to Indigenous health or research will be scanned. Books and book chapters will be identified in the Scopus and PsycINFO databases. The grey literature search will also include Google and be limited to reports published by government, academic, and non-profit organizations. Reference lists of key publications will be checked for additional relevant publications, including theses, dissertations, reports, and other articles not retrieved in the online searches. Additional sources may be recommended by team members. Included documents will focus on Indigenous Peoples in North America, South America, Australia, Aotearoa New Zealand, and Circumpolar regions, research that reports on mental health, and research that is based on land loss connected to dams, mines, agriculture, or petroleum development. Literature that meets the inclusion criteria will be screened at the title/abstract and full-text stages by two team members in Covidence. The included literature will be rated with a quality appraisal tool and information will be extracted by two team members; a consensus of information will be reached and be submitted for analysis.
Discussion
The synthesized evidence from this review is relevant for land use policy, health impact assessments, economic development, mental health service planning, and communities engaging in development projects.
Systematic review registration
Registered in the International Prospective Register of Systematic Reviews (PROSPERO; Registration number
CRD42021253720
)
Encounters Old and New in World History Alan Karras, Laura J. Mitchell, Anand A. Yang, Kieko Matteson / Alan Karras, Laura J. Mitchell, Anand A. Yang, Kieko Matteson
2017, 20170630, 2017-06-30
eBook
This collection of essays asserts the specific value of world history research and teaching, showing how the field contributes to the larger historical profession and offering concrete suggestions to ...develop more interaction between the academy and the public. The twelve contributors, each with their own academic areas of interest, are experienced scholars and classroom teachers. Uniting them together in this volume is their professional relationship with Jerry H. Bentley (1949-2012). This shared connection served as a catalyst to showcase Bentley's enduring legacy: a commitment to investigating large-scale questions with detailed empirical evidence that explains the human condition-documenting both patterns of similarity and difference in ways that account for regional and temporal variations. The volume continues Bentley's meticulous attention to world historical methods: focus on scale, cross-cultural encounter, comparison, periodization, critical geography, and interdisciplinarity.
Encounters Old and New in World History responds to provocations that Jerry Bentley tendered in his scholarship and through his professional activities. Contributors interrogate the institutional settings, disciplinary proclivities, methodological choices, and diverse source bases of world history research and teaching. Several essays address the ways in which present-day concerns influence research on local and global scales. Other essays pay particular attention to the production and circulation of knowledge across regional, temporal, and class boundaries, as well as between the academy and the wider public. Claiming the centrality of globally informed and focused approaches to historical inquiry, researchers continue the conversations that Bentley carried on through his own scholarship, teaching, editing of the Journal of World History, participating in public forums, and contributing to public discussions about the place of history in understanding today's global integration.
The stakes involved in asking questions about the shared history of humankind continue to increase in the current era of intensified globalization. It is incumbent upon scholars with the skills to work across linguistic, geographic, temporal, and disciplinary boundaries to show the ways that cross-cultural encounters happened historically, and to point out how such interactions play out in the institutions, classrooms, and public debates where historical interpretations are created and shared.
Oxygen control with microfluidics Brennan, Martin D; Rexius-Hall, Megan L; Elgass, Laura Jane ...
Lab on a chip,
11/2014, Letnik:
14, Številka:
22
Journal Article
Recenzirano
Cellular function and behavior are affected by the partial pressure of O
2
, or oxygen tension, in the microenvironment. The level of oxygenation is important, as it is a balance of oxygen ...availability and oxygen consumption that is necessary to maintain normoxia. Changes in oxygen tension, from above physiological oxygen tension (hyperoxia) to below physiological levels (hypoxia) or even complete absence of oxygen (anoxia), trigger potent biological responses. For instance, hypoxia has been shown to support the maintenance and promote proliferation of regenerative stem and progenitor cells. Paradoxically, hypoxia also contributes to the development of pathological conditions including systemic inflammatory response, tumorigenesis, and cardiovascular disease, such as ischemic heart disease and pulmonary hypertension. Current methods to study cellular behavior in low levels of oxygen tension include hypoxia workstations and hypoxia chambers. These culture systems do not provide oxygen gradients that are found
in vivo
or precise control at the microscale. Microfluidic platforms have been developed to overcome the inherent limits of these current methods, including lack of spatial control, slow equilibration, and unachievable or difficult coupling to live-cell microscopy. The various applications made possible by microfluidic systems are the topic of this review. In order to understand how the microscale can be leveraged for oxygen control of cells and tissues within microfluidic systems, some background understanding of diffusion, solubility, and transport at the microscale will be presented in addition to a discussion on the methods for measuring the oxygen tension in microfluidic channels. Finally the various methods for oxygen control within microfluidic platforms will be discussed including devices that rely on diffusion from liquid or gas, utilizing on-or-off-chip mixers, leveraging cellular oxygen uptake to deplete the oxygen, relying on chemical reactions in channels to generate oxygen gradients in a device, and electrolytic reactions to produce oxygen directly on chip.
Cellular function and behavior are affected by the partial pressure of O
2
, or oxygen tension, in the microenvironment.
While human identification is a crucial aspect of medico-legal investigations, many individuals remain unidentified each year across the world. The burden of unidentified bodies is often referred to ...when motivating for improved methods of identification, and anatomical teaching, yet the actual burden is somewhat unclear. A systematic literature review was undertaken to identify articles that empirically investigate the number of unidentified bodies experienced. Despite the large number of articles returned, an alarmingly low number (24 articles) provided specific and empirical details on the number of unidentified bodies, demographics and trends thereof. It is possible that this lack of data is due to the variable definition of ‘unidentified’ bodies and the use of alternative terminology such as ‘homelessness’ or ‘unclaimed’ bodies. Nevertheless, the 24 articles provided data for 15 forensic facilities across ten countries of both developed and developing statuses. On average, developing countries experienced more than double (9.56%) the number of unidentified bodies when compared to developed nations (4.40%). While facilities were mandated under different legislations and infrastructures available varied greatly, the most common issue faced is the lack of standardised procedures for forensic human identification. Further to this, the need for investigative databases was highlighted. Through addressing the standardisation of identification procedures and terminology, alongside the appropriate utilisation of existing infrastructure and database creation, the number of unidentified bodies could be significantly reduced globally.
Sudden unexpected death in infants (SUDI) is a traumatic event for families, and unfortunately its occurrence remains high in many parts of the world. Whilst cause of death is resolved for most ...cases, others remain undetermined following postmortem investigations. There has been a recognition of the role of genetic testing in unexplained cases, where previous studies have demonstrated the resolution of cases through DNA analyses. Here we present two case reports of SUDI cases admitted to Salt River Mortuary, South Africa, and show that underlying causes of death were determined for both infants using clinical exome sequencing. The first infant was heterozygous for a variant (rs148175795) in
COL6A3
, which suggested a bronchopulmonary dysplasia phenotype. This hypothesis led to finding of a second candidate variant in
DMP1
(rs142880465), which may contribute towards a digenic/polygenic mechanism of a more severe phenotype. Histological analysis of retained tissue sections showed an asphyxial mechanism of death, where bronchiolar muscle weakness from an underlying bronchopulmonary dysplasia may have contributed to the asphyxia by affecting respiration. In the second infant, a homozygous variant (rs201340753) was identified in
MASP1
, which was heterozygous in each parent, highlighting the value of including parental DNA in genetic studies. Whilst mannose-binding lectin deficiency could not be assessed, it is plausible that this variant may have acted in combination with other risk factors within the triple-risk model to result in sudden death. These results may have genetic implications for family members, and represent possible new candidate variants for molecular autopsies.
Abstract
Sudden unexpected death in infants (SUDI) is a devastating event, and unfortunately occurs frequently in developing countries. The emerging molecular autopsy has added value to post-mortem ...investigations, where genetic variants were able to explain the unexpected demise. Many of these variants have been found in genes involved in arrythmia pathways. The aim of this study was to sequence 43 genes previously associated with cardiac arrhythmia in a selected cohort of SUDI cases (
n
= 19) in South Africa. A total of 335 variants were found among the 19 infants, of which four were novel. The variants were classified as “likely pathogenic” (
n
= 1), “variant of unknown significance” (
n
= 54), “likely benign” (
n
= 56) or “benign” (
n
= 224). The likely pathogenic variant was
LMNA
NM_170707.2:c.1279C > T (p.Arg427Cys) and was found in a 3-week-old male infant of African ancestry. Variants in
LMNA
have previously been associated with dilated cardiomyopathy, with a typical age of onset in adulthood; therefore, this may be the first report in an infant. The yield of pathogenic or likely pathogenic variants in the classic genes typically associated with channelopathies and sudden death, was less in this study compared with other settings. This finding highlights the importance of population-specific research to develop a molecular autopsy which is locally relevant.
Sudden unexpected death in infants (SUDI) is a devastating event, and unfortunately is still a burden in many parts of the world, including in South Africa. Due to the absence of routine testing for ...inborn metabolic diseases in newborns and in a post-mortem context, little is known about the presence of metabolic diseases in local SUDI cases. The aim of this study was to genotype five candidate variants previously associated with metabolic disorders in a cohort of SUDI cases (
n
= 169) from Salt River Mortuary, Cape Town. DNA was isolated from blood, and SNaPshot® PCR and Sanger sequencing were used to genotype the following variants:
ACADM
: c.583G > A,
ACADM
: c.985A > G,
GCDH:
c.877G > A/T,
GALT
: c.404C > G/T and
GALT
: c.563A > G. Four carriers of
GCDH:
c.877G > A/T were identified, while one infant was homozygous for the founder mutation
GALT
: c.404C > G/T; the latter which is causative of galactosaemia and was previously undiagnosed. During the follow-up with the family, it emerged that the affected infant’s identical twin had subsequently demised. The findings in this study highlight possible new candidate variants to assess in South African SUDI cases, and these results directly contribute to the development of a molecular autopsy which is locally relevant. It is evident that until newborn screening becomes routine and accessible in South Africa, molecular autopsies should include testing for inherited metabolic disorders, as it holds potential to save lives.
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