7 research outputs found
AfriMTE and AfriCOMET : Empowering COMET to Embrace Under-resourced African Languages
Despite the progress we have recorded in scaling multilingual machine translation (MT) models and evaluation data to several under-resourced African languages, it is difficult to measure accurately the progress we have made on these languages because evaluation is often performed on n-gram matching metrics like BLEU that often have worse correlation with human judgments. Embedding-based metrics such as COMET correlate better; however, lack of evaluation data with human ratings for under-resourced languages, complexity of annotation guidelines like Multidimensional Quality Metrics (MQM), and limited language coverage of multilingual encoders have hampered their applicability to African languages. In this paper, we address these challenges by creating high-quality human evaluation data with a simplified MQM guideline for error-span annotation and direct assessment (DA) scoring for 13 typologically diverse African languages. Furthermore, we develop AfriCOMET, a COMET evaluation metric for African languages by leveraging DA training data from high-resource languages and African-centric multilingual encoder (AfroXLM-Roberta) to create the state-of-the-art evaluation metric for African languages MT with respect to Spearman-rank correlation with human judgments (+0.406)
Leprel1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome
Purpose:To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.Methods:Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.Results:10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of three patients (30%). Rhegmatogenous retinal detachments (RRD), associated with giant retinal tears (GRT), developed in seven eyes of five patients (50%) at a mean age of 14.14 ± 5.9 years. Six were successfully reattached with mean Snellen best-corrected visual acuity improving from 20/120 preoperatively to 20/60 at last follow-up. Urinalysis in nine patients revealed microhematuria and/or mild proteinuria in six patients (67%).Conclusion:LEPREL1-related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted
Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms
In search of triallelism in BardetâBiedl syndrome
BardetâBiedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable genetic heterogeneity that characterizes this disease is consistent with accumulating data on the interaction between the proteins encoded by the 14 BBS genes identified to date. Previous reports suggested that such interaction may also extend to instances of oligogenic inheritance in the form of triallelism which defies the long held view of BBS as an autosomal recessive disease. In order to investigate the magnitude of triallelism in BBS, we conducted a comprehensive analysis of all 14 BBS genes as well as the CCDC28B-modifier gene in a cohort of 29 BBS families, most of which are multiplex. Two in trans mutations in a BBS gene were identified in each of these families for a total of 20 mutations including 12 that are novel. In no instance did we observe two mutations in unaffected members of a given family, or observe the presence of a third allele that convincingly acted as a modifier of penetrance and supported the triallelic model of BBS. In addition to presenting a comprehensive genotype/phenotype overview of a large set of BBS mutations, including the occurrence of nonsyndromic retinitis pigmentosa in a family with a novel BBS9 mutation, our study argues in favor of straightforward autosomal recessive BBS in most cases
AfriMTE and AfriCOMET: Enhancing COMET to Embrace Under-resourced African Languages
Despite the recent progress on scaling multilingual machine translation (MT) to several under-resourced African languages, accurately measuring this progress remains challenging, since evaluation is often performed on n-gram matching metrics such as BLEU, which typically show a weaker correlation with human judgments. Learned metrics such as COMET have higher correlation; however, the lack of evaluation data with human ratings for under-resourced languages, complexity of annotation guidelines like Multidimensional Quality Metrics (MQM), and limited language coverage of multilingual encoders have hampered their applicability to African languages. In this paper, we address these challenges by creating high-quality human evaluation data with simplified MQM guidelines for error detection and direct assessment (DA) scoring for 13 typologically diverse African languages. Furthermore, we develop AfriCOMET: COMET evaluation metrics for African languages by leveraging DA data from well-resourced languages and an African-centric multilingual encoder (AfroXLM-R) to create the state-of-the-art MT evaluation metrics for African languages with respect to Spearman-rank correlation with human judgments (0.441)
Multidimensional Inequality and Human Development
The measurement of inequality from a human development perspective is fundamental. We start this chapter by briefly introducing the human development approach and its main conceptual basis: the capability approach. We note that inequality should preferably be assessed in the space of functionings, requiring the assessment methods to use multidimensional techniques. We then present the primary challenges inherent to multidimensional inequality measurement that are related to two types of distributional changes: one is concerned with the dispersions within distributions that are analogous to the unidimensional framework and the other, unlike the unidimensional framework, is concerned with the association between distributions. We next present a succinct review of the most prominent measures proposed in the literature within a unifying framework and review the empirical applications surrounding these measures. We note that while multidimensional inequality measures have a great potential to contribute to the monitoring of human development, there are some challenges to overcome in order to fulfil this potential
Evaluation of a quality improvement intervention to reduce anastomotic leak following right colectomy (EAGLE): pragmatic, batched stepped-wedge, cluster-randomized trial in 64 countries
Background
Anastomotic leak affects 8 per cent of patients after right colectomy with a 10-fold increased risk of postoperative death. The EAGLE study aimed to develop and test whether an international, standardized quality improvement intervention could reduce anastomotic leaks.
Methods
The internationally intended protocol, iteratively co-developed by a multistage Delphi process, comprised an online educational module introducing risk stratification, an intraoperative checklist, and harmonized surgical techniques. Clusters (hospital teams) were randomized to one of three arms with varied sequences of intervention/data collection by a derived stepped-wedge batch design (at least 18 hospital teams per batch). Patients were blinded to the study allocation. Low- and middle-income country enrolment was encouraged. The primary outcome (assessed by intention to treat) was anastomotic leak rate, and subgroup analyses by module completion (at least 80 per cent of surgeons, high engagement; less than 50 per cent, low engagement) were preplanned.
Results
A total 355 hospital teams registered, with 332 from 64 countries (39.2 per cent low and middle income) included in the final analysis. The online modules were completed by half of the surgeons (2143 of 4411). The primary analysis included 3039 of the 3268 patients recruited (206 patients had no anastomosis and 23 were lost to follow-up), with anastomotic leaks arising before and after the intervention in 10.1 and 9.6 per cent respectively (adjusted OR 0.87, 95 per cent c.i. 0.59 to 1.30; P = 0.498). The proportion of surgeons completing the educational modules was an influence: the leak rate decreased from 12.2 per cent (61 of 500) before intervention to 5.1 per cent (24 of 473) after intervention in high-engagement centres (adjusted OR 0.36, 0.20 to 0.64; P < 0.001), but this was not observed in low-engagement hospitals (8.3 per cent (59 of 714) and 13.8 per cent (61 of 443) respectively; adjusted OR 2.09, 1.31 to 3.31).
Conclusion
Completion of globally available digital training by engaged teams can alter anastomotic leak rates. Registration number: NCT04270721 (http://www.clinicaltrials.gov)