Many forms of childhood glaucoma have been associated with underlying genetic changes, and variants in many genes have been described. Currently, testing is variable as there are no widely accepted ...guidelines for testing. This systematic review aimed to summarize the literature describing genetic changes and testing practices in childhood glaucoma. This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic review and Meta-Analyses (PRISMA) 2020 guidelines and registered with Prospero (ID CRD42023400467). A comprehensive review of Pubmed, Embase, and Cochrane databases was performed from inception through March 2, 2023 using the search terms: (glaucoma) AND (pediatric OR childhood OR congenital OR child OR infant OR infantile) AND (gene OR genetic OR genotype OR locus OR genomic OR mutation OR variant OR test OR screen OR panel). Information was extracted regarding genetic variants including genotype-phenotype correlation. Risk of bias was assessed using the Newcastle-Ottawa Scale. Of 1,916 records screened, 196 studies met inclusion criteria and 53 genes were discussed. Among study populations, mean age±SD at glaucoma diagnosis was 8.94±9.54 years and 50.4% were male. The most common gene discussed was CYP1B1, evaluated in 109 (55.6%) studies. CYP1B1 variants were associated with region and population-specific prevalence ranging from 5% to 86% among those with primary congenital glaucoma. MYOC variants were discussed in 31 (15.8%) studies with prevalence up to 36% among patients with juvenile open angle glaucoma. FOXC1 variants were discussed in 25 (12.8%) studies, which demonstrated phenotypic severity dependent on degree of gene expression and type of mutation. Overall risk of bias was low; the most common domains of bias were selection and comparability. Numerous genes and genetic changes have been associated with childhood glaucoma. Understanding the most common genes as well as potential genotype-phenotype correlation has the potential to improve diagnostic and prognostic outcomes for children with glaucoma.
Whilst a lot of research has been carried out on designing learning environments to meet the needs of learners, much of such research has focused on producing less flexible ready-made environments ...for learners to interact with. However, e-learning design and development could benefit from the lessons of the interaction of users with mobile devices, where users interact by selecting applications (Apps) they are interested in and hence engage with the device in an addictive way. By transposing the same interaction idea to the e-learning environment, if given the opportunity, learners will construct an environment that meets their needs with the tools that are available and hence will be motivated to engage more with such environment, possibly leading to improved performance. This article proposes FAUCLE (Flexible and Accessible User Constructed Learning Environment), a learner-centred model for a learner-constructed learning environment. It is hoped that this paper will encourage research interest on innovative ways of designing learner-centred learning environments that encourage active and inclusive learning.
Carbohydrate partitioning is the process of carbon assimilation and distribution from source tissues, such as leaves, to sink tissues, such as stems, roots and seeds. Sucrose, the primary ...carbohydrate transported long distance in many plant species, is loaded into the phloem and unloaded into distal sink tissues. However, many factors, both genetic and environmental, influence sucrose metabolism and transport. Therefore, understanding the function and regulation of sugar transporters and sucrose metabolic enzymes is key to improving agriculture. In this review, we highlight recent findings that (i) address the path of phloem loading of sucrose in rice and maize leaves; (ii) discuss the phloem unloading pathways in stems and roots and the sugar transporters putatively involved; (iii) describe how heat and drought stress impact carbohydrate partitioning and phloem transport; (iv) shed light on how plant pathogens hijack sugar transporters to obtain carbohydrates for pathogen survival, and how the plant employs sugar transporters to defend against pathogens; and (v) discuss novel roles for sugar transporters in plant biology. These exciting discoveries and insights provide valuable knowledge that will ultimately help mitigate the impending societal challenges due to global climate change and a growing population by improving crop yield and enhancing renewable energy production.
•SWEETs are small transporters for sugars undergoing multiple conformational states during transport cycle.•SWEET9 mediates nectar secretion.•A SWEET–SUT pair mediates phloem loading.•Select SWEETs ...play key roles in post-phloem unloading.•SWEETs are key susceptibility gene for rice and cassava blight.
Three families of transporters have been identified as key players in intercellular transport of sugars: MSTs (monosaccharide transporters), SUTs (sucrose transporters) and SWEETs (hexose and sucrose transporters). MSTs and SUTs fall into the major facilitator superfamily; SWEETs constitute a structurally different class of transporters with only seven transmembrane spanning domains. The predicted topology of SWEETs is supported by crystal structures of bacterial homologs (SemiSWEETs). On average, angiosperm genomes contain ∼20 paralogs, most of which serve distinct physiological roles. In Arabidopsis, AtSWEET8 and 13 feed the pollen; SWEET11 and 12 provide sucrose to the SUTs for phloem loading; AtSWEET11, 12 and 15 have distinct roles in seed filling; AtSWEET16 and 17 are vacuolar hexose transporters; and SWEET9 is essential for nectar secretion. The remaining family members await characterization, and could play roles in the gametophyte as well as other important roles in sugar transport in the plant. In rice and cassava, and possibly other systems, sucrose transporting SWEETs play central roles in pathogen resistance. Notably, the human genome also contains a glucose transporting isoform. Further analysis promises new insights into mechanism and regulation of assimilate allocation and a new potential for increasing crop yield.
A growing body of literature shows that social media plays a key role during crises and conflicts. In addition to traditional media, social media are used to mobilise people for a common cause and to ...communicate vital information. Very little is known about social media use during crises in the sub-Saharan African context. This article presents how Twitter is being used in the ongoing Cameroon Anglophone Crisis by several groups including the government, Anglophone activists, media organisations, and everyday citizens. Using critical theoretical perspectives to examine tweets from 1 September 2016 to 31 December 2018, this article identifies key themes. These include: placement of the crisis in a contested, historical context; debates about naming the crisis; key concepts; depiction of several forms of violence; and potential options for resolution. Social media is being used by the government, Anglophone activists, and non-affiliated people to sway public opinions on the crisis and solicit the attention of local, Diaspora, and broader international communities. Social media use has loosened the grip of governmental control of media messaging and expanded the public narratives available in Cameroon, yet at the time of the writing, this does not appear to have lessened the impact of the crisis.
The California Prison Industry Authority (CALPIA), a semiautonomous prison labor agency under the California Department of Corrections and Rehabilitation, runs two optical laboratories operated by ...people incarcerated at Valley State Prison and California State Prison, Solano,1 and these laboratories supply ophthalmic lenses to eligible Medicaid recipients, such as this young patient. Three months before this child's surgery, CALPIA had paused the vast majority of its operations, including those at its optical laboratories, because of the COVID-19 outbreak.2 This situation did not just illuminate a surprising connection between public health care and prisons. It caused the authors-two physicians and one lawyer in California-to rethink public health care stakeholders' participation in a system that supports exploitative prison labor. With more than 1.5 million people incarcerated in state and federal prisons and approximately half of the incarcerated population assigned to work programs, the United States is home to a sprawling prison labor economy.3-5 Prison labor, which refers to the work performed by incarcerated individuals, was explicitly licensed by the Thirteenth Amendment, which states that slavery and involuntary servitude may serve as "punishment for crime whereof the party shall have been duly convicted." This practice became common in postbellum Southern states and allowed private companies and slave labor camp owners to "rent" predominantly Black imprisoned people to perform uncompensated work. Despite this practice falling out of favor, the underlying philosophy behind state-controlled prison labor remains essentially unchanged in 2022: the government, without violating the Constitution, may order incarcerated people to perform uncompensated or minimally compensated labor. Incarcerated people may be required to perform tasks to keep the prison running, work for private companies that contract with prisons, or work for public entities such as CALPIA, California's prison labor agency, that create products (e.g., eyeglasses) to supply both public and private entities.
α-Synuclein is a soluble, cellular protein that in a number of neurodegenerative diseases, including Parkinson's disease and multiple system atrophy, forms pathological deposits of protein ...aggregates. Because misfolded α-synuclein has some characteristics that resemble those of prions, we investigated its potential to induce disease after intraperitoneal or intraglossal challenge injection into bigenic Tg(M83(+/-):Gfap-luc(+/-)) mice, which express the A53T mutant of human α-synuclein and firefly luciferase. After a single intraperitoneal injection with α-synuclein fibrils, four of five mice developed paralysis and α-synuclein pathology in the central nervous system, with a median incubation time of 229 ± 17 days. Diseased mice accumulated aggregates of Sarkosyl-insoluble and phosphorylated α-synuclein in the brain and spinal cord, which colocalized with ubiquitin and p62 and were accompanied by gliosis. In contrast, only one of five mice developed α-synuclein pathology in the central nervous system after intraglossal injection with α-synuclein fibrils, after 285 days. These findings are novel and important because they show that, similar to prions, α-synuclein prionoids can neuroinvade the central nervous system after intraperitoneal or intraglossal injection and can cause neuropathology and disease.
Synucleinopathies are neurodegenerative diseases that are characterized by the pathological presence of aggregated α-synuclein in cells of the nervous system. Previous studies have shown that α-synuclein aggregates made of recombinant protein or derived from brains of patients can spread in the central nervous system in a spatiotemporal manner when inoculated into the brains of animals and can induce pathology and neurologic disease, suggesting that misfolded α-synuclein can behave similarly to prions. Here we show that α-synuclein inoculation into the peritoneal cavity or the tongue in mice overexpressing α-synuclein causes neurodegeneration after neuroinvasion from the periphery, which further corroborates the prionoid character of misfolded α-synuclein.
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