9 research outputs found

    Human toxocariasis: contribution by Brazilian researchers

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    In the present paper the main aspects of the natural history of human infection by Toxocara larvae that occasionally result in the occurrence of visceral and/or ocular larva migrans syndrome were reviewed. The contribution by Brazilian researchers was emphasized, especially the staff of the Tropical Medicine Institute of São Paulo (IMT)

    Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

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    Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

    Reproductive biology of the southern pufferfish, Sphoeroides nephelus (Actinopterygii: Tetraodontiformes: Tetraodontidae), in the northern coast off the Yucatan Peninsula, Mexico

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    Background. Overexploitation of fishery resources has led to the capture of alternative species of a lower trophic level, considered previously unprofitable or unfit for human consumption. The southern pufferfish, Sphoeroides nephelus (Goode et Bean, 1882), is a bycatch species of the recreational fishery in the USA and Mexico. Unlike other species of the genus Sphoeroides, there is no background on their reproductive cycle. Therefore, this study aimed to describe several reproductive traits (sex ratio, gonadal development, annual reproductive cycle, and fecundity) of specimens from the northern coast of the Yucatan Peninsula, Mexico. This kind of information might serve as a point of reference for its potential use either in the pharmaceutical industry, aquarium trade, as well as in aquaculture. Materials and methods. The reproductive biology of the southern pufferfish was described based on 189 females and 223 males, caught off the northern coast off the Yucatan, Mexico, during an annual cycle. Several reproductive traits, such as the annual cycle of gonad development, sex ratio, and the batch fecundity were determined. Results. The sex ratio showed no significant difference from 1 ÷ 1 ratio. Male’s reproductive season lasted from August to May, although females were spawning from August to April. The size at 50% maturity was estimated at 14.93 cm TL for females. Batch fecundity ranged between 59 087 and 367 022 oocytes (mean 176 456) per spawning batch, and it was significantly fitted to both female size and weight based on power and linear regression models, respectively. The relative batch fecundity was estimated at 828 ± 182 oocytes per gram of eviscerated weight, and 11 989 ± 4774 oocytes per gram of gonad weight. Conclusion. It was determined that S. nephelus exhibited 1 ÷ 1 sex ratio, an asynchronous development of oocytes and indeterminate fecundity with batch spawning. The species has a protracted reproductive season that lasted almost all year round with peaks in February–March (before of the dry season) and a brief inactive period in June–July (before of the wet season). This latter information should be helpful to obtain a broodstock that would be the base to produce fingerlings to be raised, instead of collecting individuals from the wild

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

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    Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for approximately 5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS
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