Evaluating face2gene as a tool to identify cornelia de lange syndrome by facial phenotypes

Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal genes and the presence of overlapping syndromes have made it increasingly difficult to diagnose only by clinical features. DeepGestalt technology, and its app Face2Gene, is having a growing impact on the diagnosis and management of genetic diseases by analysing the features of affected individuals. Here, we performed a phenotypic study on a cohort of 49 individuals harbouring causative variants in known CdLS genes in order to evaluate Face2Gene utility and sensitivity in the clinical diagnosis of CdLS. Based on the profile images of patients, a diagnosis of CdLS was within the top five predicted syndromes for 97.9% of our cases and even listed as first prediction for 83.7%. The age of patients did not seem to affect the prediction accuracy, whereas our results indicate a correlation between the clinical score and affected genes. Furthermore, each gene presents a different pattern recognition that may be used to develop new neural networks with the goal of separating different genetic subtypes in CdLS. Overall, we conclude that computer-assisted image analysis based on deep learning could support the clinical diagnosis of CdLS.Spanish Ministry of Science, Innovation and Universities/State Research Agency RTC-2017-6494-1; RTI2018-094434-B-I00 (MCIU/AEI/FEDER, UE) to P.G.-P.; Diputación General de Aragón - FEDER: European Social Fund [Grupo de Referencia B32_17R, to J.P.] as well as funds from the European JPIAMR-VRI network “CONNECT” to P.G.-P.; Medical Faculty of the University of Lübeck J09-2017 to I. P.; German Federal Ministry of Education and Research (BMBF

Strategy for the management of diabetic macular edema: the European Vitreo-Retinal Society macular edema study

Objective. To compare the efficacy of different therapies in the treatment of diabetic macular edema (DME). Design. Nonrandomized, multicenter clinical study. Participants. 86 retina specialists from 29 countries provided clinical information on 2,603 patients with macular edema including 870 patients with DME. Methods. Reported data included the type and number of treatment(s) performed, the pre-and posttreatment visual acuities, and other clinical findings.The results were analyzed by the French INSEE (National Institute of Statistics and Economic Studies). Main Outcome Measures. Mean change of visual acuity and mean number of treatments performed. Results.The change in visual acuity over time in response to each treatment was plotted in second order polynomial regression trend lines. Intravitreal triamcinolone monotherapy resulted in some improvement in vision. Treatmentwith threshold or subthreshold grid laser also resulted in minimal vision gain. Anti-VEGF therapy resulted in more significant visual improvement. Treatment with pars plana vitrectomy and internal limiting membrane (ILM) peeling alone resulted in an improvement in vision greater than that observed with anti-VEGF injection alone. In our DME study, treatment with vitrectomy and ILM peeling alone resulted in the better visual improvement compared to other therapies

Prevalence of intestinal parasites and risk factors for specific and multiple helminth infections in a remote city of the Brazilian Amazon

Submitted by sandra infurna ([email protected]) on 2016-06-28T10:45:39Z No. of bitstreams: 1 angela_junqueira_etal_IOC_2016.pdf: 872107 bytes, checksum: 72be55edca2c35f06e31b6bd14954941 (MD5)Approved for entry into archive by sandra infurna ([email protected]) on 2016-06-28T12:49:24Z (GMT) No. of bitstreams: 1 angela_junqueira_etal_IOC_2016.pdf: 872107 bytes, checksum: 72be55edca2c35f06e31b6bd14954941 (MD5)Made available in DSpace on 2016-06-28T12:49:24Z (GMT). No. of bitstreams: 1 angela_junqueira_etal_IOC_2016.pdf: 872107 bytes, checksum: 72be55edca2c35f06e31b6bd14954941 (MD5) Previous issue date: 2016Submitted by Angelo Silva ([email protected]) on 2016-07-07T11:16:49Z No. of bitstreams: 3 angela_junqueira_etal_IOC_2016.pdf.txt: 24542 bytes, checksum: a0b197421a4dc0ca6f629f3fc7d77cc4 (MD5) angela_junqueira_etal_IOC_2016.pdf: 872107 bytes, checksum: 72be55edca2c35f06e31b6bd14954941 (MD5) license.txt: 2991 bytes, checksum: 5a560609d32a3863062d77ff32785d58 (MD5)Approved for entry into archive by sandra infurna ([email protected]) on 2016-07-07T12:19:24Z (GMT) No. of bitstreams: 3 license.txt: 2991 bytes, checksum: 5a560609d32a3863062d77ff32785d58 (MD5) angela_junqueira_etal_IOC_2016.pdf: 872107 bytes, checksum: 72be55edca2c35f06e31b6bd14954941 (MD5) angela_junqueira_etal_IOC_2016.pdf.txt: 24542 bytes, checksum: a0b197421a4dc0ca6f629f3fc7d77cc4 (MD5)Made available in DSpace on 2016-07-07T12:19:24Z (GMT). No. of bitstreams: 3 license.txt: 2991 bytes, checksum: 5a560609d32a3863062d77ff32785d58 (MD5) angela_junqueira_etal_IOC_2016.pdf: 872107 bytes, checksum: 72be55edca2c35f06e31b6bd14954941 (MD5) angela_junqueira_etal_IOC_2016.pdf.txt: 24542 bytes, checksum: a0b197421a4dc0ca6f629f3fc7d77cc4 (MD5) Previous issue date: 2016Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Doenças Parasitárias. Rio de Janeiro, RJ, Brasil / Universitat de Barcelona. Facultad de Medicina. Departament de Salut Publica. Barcelona, Spain.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Doenças Parasitárias. Rio de Janeiro, RJ, Brasil.Universitat de Barcelona. Facultad de Medicina. Departament de Salut Publica. Barcelona, Spain.Universitat de Barcelona. Facultad de Medicina. Departament de Salut Publica. Barcelona, Spain.Fundação de Vigilância em Saúde do Amazonas. Manaus, AM, Brasil.Universidade Federal Fluminense. Departamento de Patologia. Niterói, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Doenças Parasitárias. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Programa de Pós-Graduação em Medicina Tropical. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Biologia e Parasitologia de Mamíferos Silvestres Reservatórios. Rio de Janeiro, RJ, Brasil.Universitat de Barcelona. Facultad de Medicina. Departament de Salut Publica. Barcelona, Spain / Institut d'Investigacions Biomèdiques August Pi i Sunyer. Barcelona, Spain.Few studies have described the risk factors of intestinal parasitic infections in the Amazon. Methods: A crosssectional survey was performed in a City of the State of Amazonas (Brazil) to estimate the prevalence of intestinal parasites and determine the risk factors for helminth infections. Results: Ascaris lumbricoides was the most prevalent parasite. The main risk factors determined were: not having a latrine for A. lumbricoides infection; being male and having earth or wood fl oors for hookworm infection; and being male for multiple helminth infections. Conclusions: We reported a high prevalence of intestinal parasites and determined some poverty-related risk factors

Efficacy and safety of the CVnCoV SARS-CoV-2 mRNA vaccine candidate in ten countries in Europe and Latin America (HERALD): a randomised, observer-blinded, placebo-controlled, phase 2b/3 trial

Background: Additional safe and efficacious vaccines are needed to control the COVID-19 pandemic. We aimed to analyse the efficacy and safety of the CVnCoV SARS-CoV-2 mRNA vaccine candidate. Methods: HERALD is a randomised, observer-blinded, placebo-controlled, phase 2b/3 clinical trial conducted in 47 centres in ten countries in Europe and Latin America. By use of an interactive web response system and stratification by country and age group (18–60 years and ≥61 years), adults with no history of virologically confirmed COVID-19 were randomly assigned (1:1) to receive intramuscularly either two 0·6 mL doses of CVnCoV containing 12 μg of mRNA or two 0·6 mL doses of 0·9% NaCl (placebo) on days 1 and 29. The primary efficacy endpoint was the occurrence of a first episode of virologically confirmed symptomatic COVID-19 of any severity and caused by any strain from 15 days after the second dose. For the primary endpoint, the trial was considered successful if the lower limit of the CI was greater than 30%. Key secondary endpoints were the occurrence of a first episode of virologically confirmed moderate-to-severe COVID-19, severe COVID-19, and COVID-19 of any severity by age group. Primary safety outcomes were solicited local and systemic adverse events within 7 days after each dose and unsolicited adverse events within 28 days after each dose in phase 2b participants, and serious adverse events and adverse events of special interest up to 1 year after the second dose in phase 2b and phase 3 participants. Here, we report data up to June 18, 2021. The study is registered at ClinicalTrials.gov, NCT04652102, and EudraCT, 2020–003998–22, and is ongoing. Findings: Between Dec 11, 2020, and April 12, 2021, 39 680 participants were enrolled and randomly assigned to receive either CVnCoV (n=19 846) or placebo (n=19 834), of whom 19 783 received at least one dose of CVnCoV and 19 746 received at least one dose of placebo. After a mean observation period of 48·2 days (SE 0·2), 83 cases of COVID-19 occurred in the CVnCoV group (n=12 851) in 1735·29 person-years and 145 cases occurred in the placebo group (n=12 211) in 1569·87 person-years, resulting in an overall vaccine efficacy against symptomatic COVID-19 of 48·2% (95·826% CI 31·0–61·4; p=0·016). Vaccine efficacy against moderate-to-severe COVID-19 was 70·7% (95% CI 42·5–86·1; CVnCoV 12 cases in 1735·29 person-years, placebo 37 cases in 1569·87 person-years). In participants aged 18–60 years, vaccine efficacy against symptomatic disease was 52·5% (95% CI 36·2–64·8; CVnCoV 71 cases in 1591·47 person-years, placebo, 136 cases in 1449·23 person-years). Too few cases occurred in participants aged 61 years or older (CVnCoV 12, placebo nine) to allow meaningful assessment of vaccine efficacy. Solicited adverse events, which were mostly systemic, were more common in CVnCoV recipients (1933 [96·5%] of 2003) than in placebo recipients (1344 [67·9%] of 1978), with 542 (27·1%) CVnCoV recipients and 61 (3·1%) placebo recipients reporting grade 3 solicited adverse events. The most frequently reported local reaction after any dose in the CVnCoV group was injection-site pain (1678 [83·6%] of 2007), with 22 grade 3 reactions, and the most frequently reported systematic reactions were fatigue (1603 [80·0%] of 2003) and headache (1541 [76·9%] of 2003). 82 (0·4%) of 19 783 CVnCoV recipients reported 100 serious adverse events and 66 (0·3%) of 19 746 placebo recipients reported 76 serious adverse events. Eight serious adverse events in five CVnCoV recipients and two serious adverse events in two placebo recipients were considered vaccination-related. None of the fatal serious adverse events reported (eight in the CVnCoV group and six in the placebo group) were considered to be related to study vaccination. Adverse events of special interest were reported for 38 (0·2%) participants in the CVnCoV group and 31 (0·2%) participants in the placebo group. These events were considered to be related to the trial vaccine for 14 (<0·1%) participants in the CVnCoV group and for five (<0·1%) participants in the placebo group. Interpretation: CVnCoV was efficacious in the prevention of COVID-19 of any severity and had an acceptable safety profile. Taking into account the changing environment, including the emergence of SARS-CoV-2 variants, and timelines for further development, the decision has been made to cease activities on the CVnCoV candidate and to focus efforts on the development of next-generation vaccine candidates. Funding: German Federal Ministry of Education and Research and CureVac