62 research outputs found

    Artisanal and Small-scale Mining and the Sustainable Development Goals::Opportunities and New Directions for Sub-Saharan Africa

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    This paper explains how formalizing and supporting artisanal and small-scale mining (ASM) ā€“ low-tech, labor-intensive mineral processing and extraction ā€“ would help governments in sub-Saharan Africa meet several targets linked the Sustainable Development Goals (SDGs). While most of the men and women found working in ASM in the region choose to operate without the requisite permits and are rarely monitored or regulated, the local impacts of their activities are significant. After examining the long historical trajectory that has relegated most ASM activities in sub-Saharan Africa to the informal economy, three of the sectorā€™s more obvious economic impacts are reviewed: its contribution to regional mineral outputs; how operations create employment opportunities for millions of people directly, and millions more in the downstream and upstream industries they spawn; and the links the sector has with subsistence agriculture, dynamics which have important implications for food security and gender equality. These contributions alone are sufficient justification for featuring ASM more prominently in the plans, policies and programs being launched in sub-Saharan Africa to help host governments meet their commitments to the SDGs

    Artisanal and small-scale mining (ASM) in sub-Saharan Africa: Re-conceptualizing formalization and ā€˜illegalā€™ activity

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    This article contributes to the debate on the formalization of artisanal and small-scale mining (ASM) ā€“ low-tech, labour-intensive mineral extraction and processing ā€“ in developing countries. A unique sector populated by an eclectic group of individuals, ASM has expanded rapidly in all corners of the world in recent years. Most of its activities, however, are informal, scattered across lands which are not officially titled. But growing recognition of the sector's economic importance, particularly in sub-Saharan Africa, has forced donors, and to some extent, policymakers, to ā€˜rethinkā€™ development strategies for ASM. As part of broader moves to improve the regulation of, and occasionally intensify the delivery of assistance to, the sector, many are now searching frantically for fresh ideas on how to bring operations into the legal domain, where, it is believed, they can be regulated, monitored and supported more effectively. A challenging exercise, this entails first determining, with some degree of precision, why people choose to operate informally in this sector. Drawing on analysis from the literature and findings from research conducted in Ghana and Niger, it is argued that the legalist school (on informality) in part explains how governments across sub-Saharan Africa are ā€˜creatingā€™ bureaucracies which are stifling the formalization of ASM activities in the region. A more nuanced development strategy grounded in local realities is needed if formalization is to have a transformative effect on the livelihoods of those engaged in ASM in the region and elsewhere in the developing world. Ā© 2017 Elsevier Lt

    Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant

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    Background The genetic basis of monocular elevation deficiency (MED) is unclear. It has previously been considered to arise due to a supranuclear abnormality.Methods Two brothers with MED were referred to Leicester Royal Infirmary, UK from the local opticians. Their father had bilateral ptosis and was unable to elevate both eyes, consistent with the diagnosis of congenital fibrosis of extraocular muscles (CFEOM). Candidate sequencing was performed in all family members.Results Both affected siblings (aged 7 and 12 years) were unable to elevate the right eye. Their father had bilateral ptosis, left esotropia and bilateral limitation of elevation. Chin up head posture was present in the older sibling and the father. Bellā€™s phenomenon and vertical rotational vestibulo-ocular reflex were absent in the right eye for both children. Mild bilateral facial nerve palsy was present in the older sibling and the father. Both siblings had slight difficulty with tandem gait. MRI revealed hypoplastic oculomotor nerve. Left anterior insular focal cortical dysplasia was seen in the older sibling. Sequencing of TUBB3 revealed a novel heterozygous variant (c.1263G>C, p.E421D) segregating with the phenotype. This residue is in the C-terminal H12 Ī±-helix of Ī²-tubulin and is one of three putative kinesin binding sites.Conclusion We show that familial MED can arise from a TUBB3 variant and could be considered a limited form of CFEOM. Neurological features such as mild facial palsy and cortical malformations can be present in patients with MED. Thus, in individuals with congenital MED, consideration may be made for TUBB3 mutation screening

    SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

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    Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited due to lack of quantitative data on retinal development and nystagmus characteristics. In this multi-centre study, a custom-targeted next generation sequencing (NGS) gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. We report 16 novel SLC38A8 mutations. The sixth transmembrane domain is most frequently disrupted by missense SLC38A8 mutations. Ninety percent of our cases were initially misdiagnosed as PAX6-related phenotype or ocular albinism prior to NGS. We characterized the retinal development in vivo in patients with SLC38A8 mutations using high-resolution optical coherence tomography. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening. Loss of foveal specialization features such as outer segment lengthening implies reduced foveal cone density, which contributes to reduced visual acuity. Unlike other disorders (such as albinism or PAX6 mutations) which exhibit a spectrum of foveal hypoplasia, SLC38A8 mutations have arrest of retinal development at an earlier stage resulting in a more under-developed retina and severe phenotype

    Ophthalmology

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    To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). Multicenter, observational study. A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (nĀ = 523) or extracted from publicly available datasets from previously reported literature (nĀ = 384). Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans. Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS-), molecular diagnosis, and visual acuity (VA). The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-squareĀ = 60.4, P < 0.0001). All SLC38A8 cases were PRS- (PĀ = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-squareĀ = 31.4, P < 0.0001) and VA (PĀ = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky-Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH. We characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms of FH. In typical FH, our data suggest that arrested retinal development occurs earlier in SLC38A8, OA, HPS, and AHR variants and later in FRMD7 variants. The defined time period of foveal developmental arrest for OCA and PAX6 variants seems toĀ demonstrate more variability. Our findings provide mechanistic insight into disorders associated with FHĀ and have significant prognostic and diagnostic value

    Extended optical treatment versus early patching with an intensive patching regimen in children with amblyopia in Europe (EuPatch): a multicentre, randomised controlled trial

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    Background Amblyopia, the most common visual impairment of childhood, is a public health concern. An extended period of optical treatment before patching is recommended by the clinical guidelines of several countries. The aim of this study was to compare an intensive patching regimen, with and without extended optical treatment (EOT), in a randomised controlled trial. Methods EuPatch was a randomised controlled trial conducted in 30 hospitals in the UK, Greece, Austria, Germany, and Switzerland. Children aged 3ā€“8 years with newly detected, untreated amblyopia (defined as an interocular difference ā‰„0Ā·30 logarithm of the minimum angle of resolution [logMAR] best corrected visual acuity [BCVA]) due to anisometropia, strabismus, or both were eligible. Participants were randomly assigned (1:1) via a computer-generated sequence to either the EOT group (18 weeks of glasses use before patching) or to the early patching group (3 weeks of glasses use before patching), stratified for type and severity of amblyopia. All participants were initially prescribed an intensive patching regimen (10 h/day, 6 days per week), supplemented with motivational materials. The patching period was up to 24 weeks. Participants, parents or guardians, assessors, and the trial statistician were not masked to treatment allocation. The primary outcome was successful treatment (ie, ā‰¤0Ā·20 logMAR interocular difference in BCVA) after 12 weeks of patching. Two primary analyses were conducted: the main analysis included all participants, including those who dropped out, but excluded those who did not provide outcome data at week 12 and remained on the study; the other analysis imputed this missing data. All eligible and randomly assigned participants were assessed for adverse events. This study is registered with the International Standard Randomised Controlled Trial Number registry (ISRCTN51712593) and is no longer recruiting. Findings Between June 20, 2013, and March 12, 2020, after exclusion of eight participants found ineligible after detailed screening, we randomly assigned 334 participants (170 to the EOT group and 164 to the early patching group), including 188 (56%) boys, 146 (44%) girls, and two (1%) participants whose sex was not recorded. 317 participants (158 in the EOT group and 159 in the early patching group) were analysed for the primary outcome without imputation of missing data (median follow-up time 42 weeks [IQR 42] in the EOT group vs 27 weeks [27] in the early patching group). 24 (14%) of 170 participants in the EOT group and ten (6%) of 164 in the early patching group were excluded or dropped out of the study, mostly due to loss to follow-up and withdrawal of consent; ten (6%) in the EOT group and three (2%) in the early patching group missed the 12 week visit but remained on the study. A higher proportion of participants in the early patching group had successful treatment (107 [67%] of 159) than those in the EOT group (86 [54%] of 158; 13% difference; p=0Ā·019) after 12 weeks of patching. No serious adverse events related to the interventions occurred. Interpretation The results from this trial indicate that early patching is more effective than EOT for the treatment of most children with amblyopia. Our findings also provide data for the personalisation of amblyopia treatments. Funding Action Medical Research, NIHR Clinical Research Network, and Ulverscroft Foundation

    New Approaches to Enforcement and Compliance with Labour Regulatory Standards: The Case of Ontario, Canada

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