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BACKGROUND: The schoolyard environment provides key opportunities to promote physical activity and socioemotional development for children. Schoolyards can also serve as a community park resource outside of school hours. We aimed to: (i) implement and evaluate reliability of the System for Observing Outdoor Play Environments in Neighborhood Schools (SOOPEN), (ii) assess schoolyard use by children during recess and community members of all ages outside of school hours, and (iii) investigate relationships of schoolyard and children´s group characteristics with physical activity levels and prosocial interactions. METHODS: In this cross-sectional study, we observed student and community visitor behavior using SOOPEN at three urban elementary schoolyards in Tacoma, Washington, USA, prior to renovations intended to expand each facility's use as a community park in neighborhoods with poor park access. We assessed interrater reliability using intraclass correlation coefficients and described current levels of schoolyard use (at the group level), physical activity, and prosocial behavior. Physical activity was assessed on a five-point scale and dichotomized to indicate moderate-to-vigorous physical activity (MVPA). Social interactions were coded as prosocial, antisocial, or neutral. We examined associations of selected schoolyard features and group characteristics with group MVPA and prosocial behavior during recess using modified Poisson regression to estimate prevalence ratios (PR) and 95% confidence intervals (CI). RESULTS: We observed a total of 981 activity-defined, informal groups in the schoolyards, and achieved good to excellent interrater reliability using SOOPEN. Community use of the schoolyards during evenings and weekends was limited (n = 56 groups). During 26, 25-50 min recess periods (n = 833 groups), 19% of groups were engaged in MVPA. Schoolyard areas with paved surfaces were associated with more MVPA (PR = 1.52, 95% CI: 1.04, 2.23) compared to field/grass areas; supervised groups were associated with less MVPA than groups not directly supervised by an adult (PR = 0.59, 95% CI: 0.36, 0.96). Schoolyard characteristics were not associated with prosocial behavior. Mixed-gender groups were associated with more MVPA and more prosocial behavior. CONCLUSIONS: Our study using SOOPEN, a reliable new activity observation tool, highlights the multi-dimensional dynamics of physical activity and social interactions in schoolyards, which could be leveraged to promote healthy behaviors during and outside of school hours.
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Exercício Físico , Interação Social , Criança , Adulto , Humanos , Estudos Transversais , Reprodutibilidade dos Testes , Exercício Físico/psicologia , Instituições AcadêmicasRESUMO
Secondary production is the formation of heterotrophic biomass across time, which integrates several important ecological processes that affect the life of organisms, populations, communities and ecosystems, but its study has poor developed in South America. The objectives of this work were to describe the diversity of benthic macroinvertebrate assemblages in terms of abundance and biomass, and to quantify their secondary production for the first time in Andean rivers. A quantitative sampling scheme was implemented, using a Surber sampler, in three forested streams. Physical-chemical variables, nutrients, organic matter and chlorophyll were measured also. The macroinvertebrates were separated and identified mostly at the species level. Each taxon was assigned to a functional feeding group. Secondary production was estimated for 38 taxa, mostly Diptera, Trichoptera, Coleoptera, and Ephemeroptera. The annual production varied from 3769 to 13916 mg dry mass m-2 y-1. Most abundant taxa were also those with higher production, dominated by Ephemeroptera (Baetidae), Trichoptera (Hydropsychidae) and Diptera (Chironomidae and Simuliidae). Density, biomass, and production of collectors and predators were much higher than the other feeding groups. We expect that our results will be useful to evaluate the effects on stream functioning produced by global warming and other anthropogenic disturbances in our region.
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Besouros , Ephemeroptera , Holometábolos , Animais , Biomassa , Ecossistema , Rios , ClorofilaRESUMO
AIM: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive deterioration of neurological functions commonly occurring in children aged 2-4 years and culminating in early death. Atypical cases associated with earlier or later symptom onset, or even protracted course, have already been reported. Such variable manifestations may constitute an additional challenge to early diagnosis and initiation of appropriate treatment. The present work aimed to analyse clinical data from a cohort of Latin American CLN2 patients with atypical phenotypes. METHODS: Experts in inborn errors of metabolism from Latin America selected patients from their centres who were deemed by the clinicians to have atypical forms of CLN2, according to the current literature on this topic and their practical experience. Clinical and genetic data from the medical records were retrospectively revised. All cases were presented and analysed by these experts at an Advisory Board Meeting in São Paulo, Brazil, in October 2018. RESULTS: Seizures, language abnormalities and behavioural disorders were found as the first manifestations, appearing at the median age of 6 years, an older age than classically described for the late infantile form. Three novel mutations were also identified. CONCLUSION: Our findings reinforce the inclusion of CLN2 in the differential diagnosis of children presenting with seizures, behavioural disorders and language abnormalities. Early diagnosis will allow early initiation of specific therapy.
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Lipofuscinoses Ceroides Neuronais , Idoso , Brasil , Criança , Pré-Escolar , Humanos , Lipofuscinoses Ceroides Neuronais/diagnóstico , Lipofuscinoses Ceroides Neuronais/genética , Fenótipo , Estudos Retrospectivos , Tripeptidil-Peptidase 1RESUMO
The distribution of aquatic insects has been poorly explored in quantitative analyses aiming at the historical reconstruction of area relationships in the Neotropics. Ephemeroptera is an ancient group, characterized by its low vagility, and of high richness and endemicity in this region. Systematic knowledge of the group has enormously increased in the last decades, achieving a sufficient background to explore biogeographical historical patterns. Our aim is to reconstruct area history in the Neotropics using the rationale of Barrier biogeography (Hovenkamp protocol). We present eleven mayfly phylogenies, representing groups that evolved independently at least from the Jurassic (i.e., not a one-taxon history). With these groups, we conducted independent biogeographical analyses (using Vicariance Inference Program), and extracted the events that repeated in two or more clades. We found fifty-eight TVEs (Traceable Vicariant Events), from which four were found at least twice, thus constituting SVEs (Supported Vicariant Events).
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Ephemeroptera/classificação , Filogeografia , Animais , Ephemeroptera/genética , Filogenia , Especificidade da EspécieRESUMO
Spatial patterns in communities of aquatic macroinvertebrates of Argentinean Puna. The macroinvertebrates are a vital component of freshwater ecosystems as they contribute to the process of organic matter while serving as food for other organisms such as fish and amphibians. Unfortunately, the knowledge of the aquatic diversity is poor in the high Andean systems (between 3 200 and 5 200 m.a.s.l. and rainfall below 300 mm per year), especially in the Argentinean peatbogs, a fact which has made difficult the interpretation of spatial patterns on a regional scale. The present study aimed to describe the composition of aquatic macroinvertebrates in seven peatbogs in the Argentinean Puna, and to analyze for the first time their spatial patterns. For this, we studied the relationship of these organisms with the environment, and obtained information about the surrounding vegetation and water physico-chemical characteristics. A total of 3 131 specimens of aquatic macroinvertebrates were collected, representing 25 taxa belonging to 22 families and 24 genera. In addition, 62 species of vascular plants were recorded, belonging to 20 families. The most abundant life form were the tufted grasses, followed by cushions. By using an NMDS (Non-Metrical Multidimensional Scaling) statistical analysis, the sampling sites were ordered in each peatbog as follows. The peatbogs located furthest West and South with higher water temperature were grouped on axis 1, whereas those with higher conductivity, whole water dissolved solids and salt concentration were grouped on axis 2. The water temperature was higher than air temperature at all times, and we found no association between temperature and altitude. The altitude had no correlation with the abundance of macroinvertebrates or with plant richness. Life forms such as scattered graminoids, trailing and prostrate herbs (in many cases they get into the channel) and aquatic plants were more abundant in peatbogs 4, 5 and 7 and they had a correlation with some macroinvertebrates belonging to functional trophic groups such as filter-collectors, collectors and scrapers. Finally, conductivity, whole dissolved solids and salt concentration had their highest value in peatbog 6, where Bivalvia (filter-collector) and Hyalella (collector) were also found. The results obtained attest that these macroinvertebrates displayed diversity and composition spatial patterns, the most important feature being their relationship with the surrounding vegetation, and to a lesser extent, with the physical and chemical traits of water in seven fertile lowlands in the Argentinean Puna.
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Biodiversidade , Invertebrados/classificação , Animais , Argentina , Rios/química , Análise EspacialRESUMO
BACKGROUND: Families face a range of barriers in supporting their children's active play in nature including family circumstances, environmental constraints, and behavioral factors. Evidence-based strategies to address these barriers are needed. We aimed to develop and pilot test a primary care-based family-centered behavioral intervention to promote active outdoor play in 4-10 year-old children. METHODS: Project Nature, a provider-delivered intervention that provides informational resources and an age-appropriate toy for nature play, was initially developed for children ages 0-3. With stakeholder input, we adapted existing materials for 4-10 year-olds and conducted usability testing at an urban clinic serving families from diverse backgrounds. Subsequently, we conducted a mix-methods pilot study to evaluate intervention feasibility and acceptability. Parents of 4-10 year-olds completed pre- and post-surveys (n = 22), and a purposive subset (n = 10) completed qualitative interviews. Post-intervention, pediatric providers (n = 4) were interviewed about their implementation experiences. RESULTS: The majority (82%) of parents liked the information provided and the remaining (18%) were neutral. Qualitatively, parents reported that: the toy provided a tangible element to help children and parents be active, they did not use the website, and they wished the intervention emphasized strategies for physical activity during cold and wet seasons. Providers felt the materials facilitated discussion about behavior change with families. There were no statistically significant changes in PA and outdoor time pre- and post-intervention. CONCLUSIONS: Project Nature was welcomed by providers and families and may be a practical intervention to promote outdoor active play during well-child visits. Providing an age-appropriate nature toy seemed to be a critical component of the intervention, and may be worth the additional cost, time and storage space required by clinics. Building from these results, Project Nature should be revised to better support active outdoor play during suboptimal weather and evaluated to test its efficacy in a fully-powered trial.
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Exercício Físico , Pais , Humanos , Criança , Pré-Escolar , Projetos Piloto , Terapia Comportamental , Atenção Primária à SaúdeRESUMO
BACKGROUND: Youth who have experienced trauma or other adverse childhood events have the potential to uniquely benefit from physical activity (PA). However, how PA is administered in schools can be re-traumatizing and fail to create positive experiences through movement. We sought to develop role-specific training to help increase the implementation of trauma-informed PA. METHODS: Guided by intervention mapping methodology, we developed "Move & Thrive"-a brief web-based training about trauma-informed PA. We then conducted a pilot evaluation of this training using a pre-posttest design with no control group in a sample of youth sport coaches, parents of school-aged children, and teachers (n = 150) recruited from an online opt-in non-probability panel. RESULTS: Mixed methods feedback found that "Move & Thrive" was highly acceptable. Across all roles (coaches, teachers, and parents/guardians) there were statistically significant increases in all targeted implementation determinants (knowledge, attitudes, self-efficacy, and perceived resources/support), with moderate to large effect sizes. CONCLUSIONS: These results provide the foundation for a larger, adequately powered trial with randomization and follow-up to assess the implementation of trauma-informed PA.
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Male imago of Baetodes traverae is described and its nymph is redescribed. The male imago is distinguished from the other known species of the genus by (1) abdominal tubercles absent, (2) turbinate eyes moderately large and not contiguous apically, (3) segment II of forceps without constriction, (4) coxal gills absent, and (5) abdominal tubercles absent. Baetodes traverae nymph is redescribed, with new illustrations aiming to improve the original description done by Mayo (1972). Its nymph has the following characters: (1) terminal filament very short, less than half the length of abdominal segment X, (2) labium with glossae very short, less than half the length of paraglossae, (3) labrum expanded laterally, with submarginal row of four setae, (4) coxal gills absent and (5) abdominal tubercles absent.
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Ephemeroptera , Fabaceae , Animais , Olho , Brânquias , Masculino , NinfaRESUMO
Familial hyperchylomicronemia syndrome is a monogenic autosomal recessive disorder that causes severe and refractory hypertriglyceridemia. This uncommon condition is challenging to diagnose and treat and can lead to comorbidities such as acute pancreatitis. Although treatment options are limited in the pediatric population, strict diets and treatments approved for other dyslipidemias may be implemented in familial hyperchylomicronemia syndrome, given the lack of pharmacological interventions available. We report a 14-year-old female presented to the emergency room with abdominal pain suggestive of acute pancreatitis. Biochemical analysis revealed a triglyceride value of 4260 mg/dL. Treatment for triglyceride reduction with a strict CHILD-2 triglyceride-lowering diet, insulin infusion, fibrates, and multiple plasmapheresis were initially insufficient. Primary hypertriglyceridemia was suspected, and genetic testing identified a homozygous pathogenic variant in the lipoprotein lipase gene, diagnosing familial hyperchylomicronemia syndrome. She was discharged with a maximum dose of fibrate, statin, omega-3 fatty acids, and a restrictive diet. At her 1-month and 9-month follow-ups, her triglyceride values were 756 and 495 mg/dL, respectively, without incident complications. Familial hyperchylomicronemia syndrome is an uncommon condition with limited available literature and treatment options, especially in the pediatric population. Acute pancreatitis secondary to severe hypertriglyceridemia is a condition with a high risk of mortality which requires prompt clinical suspicion and treatment.
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Background: Hand injuries resulting from accidents at work are one of the main causes of disability in workers. Every worker ruled with Partial Permanent Disability must legally be reinstated to the same workplace. Objective: To know the prevalence of reintegration and causes of non-reintegration into workers with Partial Permanent Disability due to hand injuries. Material and methods: A descriptive, observational, and retrospective study, which included 100% of the opinions of Parcial Permanent Disability due to hand injuries, generated from 2012 to 2016 at UMF 61 of Veracruz. Results: 143 cases were analyzed, 127 (88.8%) were men and 16 (11.2%) women, with a mean age of 37.3 ± 11.6 years. Labor reintegration in the same company occurred in 60 (42%) of the cases, 50 (35%) were reinstated in another company and 33 (23.1%) were not reinstated to work. Regarding work termination: 51 (35.7%) workers were laid off after their ruling, 13 (9.1%) resigned, 12 (8.4%) terminated their contract, and 7 (4.9%) were retired. Currently 72 (50.3%) workers continue to perform physical work and 18 (12.6%) did not return to work. Conclusions: Labor reintegration occurred in less than half of the cases ruled. The main cause of the non-reintegration was the unjustified dismissal by the company where the accident occurred. Not reintegrating into the same workplace has: legal, economic, medical and social implications to the worker.
Introducción: las lesiones de mano derivadas de accidentes de trabajo constituyen una de las principales causas de discapacidad en los trabajadores. Todo trabajador dictaminado con Incapacidad Permanente Parcial (IPP), jurídicamente debe ser reinsertado a su mismo centro de trabajo. Objetivo: conocer la prevalencia de reinserción y causas de no reinserción laboral en trabajadores con IPP por lesiones de mano. Material y Métodos: estudio descriptivo, observacional y retrospectivo, que incluyó el 100% de los dictámenes de IPP por lesiones de mano, generados del 2012 al 2016 en la UMF 61 de Veracruz. Resultados: se analizaron 143 casos, 127 (88.8%) fueron hombres y 16 (11.2%) mujeres, con edad media 37.3 ± 11.6 años. La reinserción laboral en la misma empresa se presentó en 60 (42%) de los casos, 50 (35%) se reinsertaron en otra empresa y 33 (23.1%) no se reinsertaron al trabajo. Respecto de la terminación laboral: 51 (35.7%) trabajadores fueron despedidos posterior a su dictaminación, 13 (9.1%) renunciaron, 12 (8.4%) finalizaron su contrato, y 7 (4.9%) fueron jubilados. Actualmente 72 (50.3%) trabajadores continúa realizando un trabajo físico y 18 (12.6%) no volvió a trabajar. Conclusiones: la reinserción laboral se presentó en menos de la mitad de los casos. La principal causa de no reinserción fue el despido injustificado por la empresa donde ocurrió el accidente. No reintegrarse al mismo centro de trabajo conlleva implicaciones: legales, económicas, médicas y sociales al trabajador.
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Pessoas com Deficiência , Traumatismos da Mão , Acidentes de Trabalho , Adulto , Emprego , Feminino , Traumatismos da Mão/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Local de TrabalhoRESUMO
BACKGROUND: Stephadiscus lyratus (Couthouy in Gould, 1846), an endemic Charopidae from southern South America, was described from few dry shells. The distribution of this species is known on scattering occurrences, mainly from material deposited in museum collections. We provide here new information on anatomy, habitat, and microhabitat preferences and estimate the potential geographic distribution of the species to test if it is exclusively endemic to the Subpolar Magellanic Forest. METHODS: Fieldwork was carried out in the National Parks of the Patagonian Forests. Snails were photographed, measured, and dissected for anatomical studies; shells were studied with scanning electron microscopy. Estimation of the species geographical distribution (EGD) was obtained through correlative ecological niche modeling (ENM). We designed a calibration area a priori with known species points of occurrence in the Magellanic Subpolar Forests and borders of the Patagonian steppe. Seven bioclimatic variables of the WorldClim database were used. The best ENMs were calibrated and selected using a maximum entropy method with Maxent v3.3.3K through the R package "kuenm". Candidate models were created by combining four values of regularization multiplier and all possible combinations of three feature classes. We evaluated candidate model performance based on significance (partial ROC), omission rates (E = 5%), and model complexity (AICc). From the best models obtained, a final model was transferred to a region "G" consisting of the calibration area plus the Valdivian Temperate Forests and whole Patagonian steppe, where we hypothesize that the species could be present. Finally, we obtained binary presence-absence maps. We quantified the proportion of the occurrence points and distribution range of S. lyratus in different land cover categories. To explore the degree of protection of S. lyratus'EGD, we quantified the proportion of its distributional range within protected areas. RESULTS: A be-lobed kidney, a close secondary ureter, the terminal portion of the uterus forming a compact glandular mass, and the vas deferens with a dilatation are new anatomical information that distinguishes this species. Stephadiscus lyratus inhabit cold native forest areas, mainly living on or under humid logs in contact with the ground. The main constraining variables to explain S. lyratus distribution in the EGD were BIO3, BIO12, BIO6, and BIO4. The potential area of distribution obtained almost duplicates their original range (140,454 km2) extending to the Valdivian Temperate forests mainly in Chile. Natural and semi-natural terrestrial vegetation was predominant in the potential area of distribution of S. lyratus. However, only 14.7% of this area occurs within current protected areas from Argentina and Chile. The ectothermic physiological traits of this species, low dispersal capacity, and its narrow habitat requirements turn S. lyratus into a potentially vulnerable species.
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This scoping review of mHealth research focuses on intervention studies that utilize mobile technologies to promote behavior change and improve health outcomes in U.S. Latinx communities. 342 mHealth articles were reviewed using PRIMSA protocols; most did not include a majority Latinx study population or did not report on an intervention. The final sample resulted in 23 articles published between 2012 and 2020. Reviewed interventions focused on conditions such as: diabetes, depression, substance abuse, obesity, hypertension, maternal health, and farmworker safety. About one-third of mHealth interventions included mobile applications, the rest were limited to texting programs. Text message reminders can help improve medication adherence and care access, especially when coupled with support from community health workers. Bi-directional text message interventions with feedback loops and personalized treatment options can build user agency. Additionally, multi-modal applications that combine texting with self-guided interactive content show promise for culturally tailored mHealth.
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Hipertensão , Aplicativos Móveis , Telemedicina , Envio de Mensagens de Texto , Agentes Comunitários de Saúde , HumanosRESUMO
The genus Cryptonympha includes three species: C. copiosa Lugo-Ortiz McCafferty, 1998; C. dasilvai Salles Francischetti, 2004 and C. genevievae Thomas, Manchon Glémet, 2013, known only from the nymphal stage. A description of the nymph of a fourth representative, Cryptonympha tracheata sp. n. is provided here, based on material collected in a blackwater stream on the slopes of the Cerro Duida mountain in south-western Venezuela. The nymph of the new species can be easily distinguished from the other species of the genus by very long tracheal gills II-VII, 2.5 times the length of each tergum, gill I small, nearly half length of gill IV and by posterior margin of terga with rounded spines. A complete description of the new species and a key for nymphs of all known Cryptonympha species are provided.
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Ephemeroptera , Animais , Ninfa , VenezuelaRESUMO
The inactivation of quorum sensing signals, a phenomenon known as quorum quenching, has been described in diverse microorganisms, though it remains almost unexplored in yeasts. Beyond the well-known properties of these microorganisms for the industry or as eukaryotic models, the role of yeasts in soil or in the inner tissues of a plant is largely unknown. In this report, the wider survey of quorum quenching activities in yeasts isolated from Antarctic soil and the inner tissues of sugarcane, a tropical crop, is presented. Results show that, independently of their niche, quorum quenching activities are broadly present in unicellular fungi. Although yeasts showing a broad range of quorum quenching activity are present in the two niches, at the same time specific AHL inactivation profiles can also be found. Furthermore, yeasts from both sampling sites show quorum quenching activities compatible with lactonase-like and acylase-like inactivations of AHLs. Interestingly, the characterization of Rhodotorula mucilaginosa 7Apo1 showed that the presence of a particular AHL does not interfere with the quenching of a second molecule. Evidence suggests that yeasts could play a role in the modulation of the quorum sensing activity of bacteria. The relationship among phylogeny, sampling sites and yeast quorum quenching activities of the isolates is analyzed.
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Acil-Butirolactonas/metabolismo , Percepção de Quorum/fisiologia , Leveduras/fisiologia , Regiões Antárticas , Técnicas Biossensoriais , Técnicas de Cocultura , Filogenia , Pseudomonas syringae/classificação , Pseudomonas syringae/genética , Pseudomonas syringae/metabolismo , Rhodotorula/classificação , Rhodotorula/genética , Rhodotorula/metabolismo , Saccharum/microbiologia , Microbiologia do Solo , Leveduras/classificação , Leveduras/genética , Leveduras/metabolismoRESUMO
Freshwater ecosystems are the most threatened ecosystems worldwide. Argentinian-protected areas have been established mainly to protect vertebrates and plants in terrestrial ecosystems. In order to create a comprehensive biodiverse conservation plan, it is crucial to integrate both aquatic and terrestrial systems and to include macroinvertebrates. Here, we address this topic by proposing priority areas of conservation including invertebrates, aquatic ecosystems, and their connectivity and land uses. LOCATION: Northwest of Argentina. We modeled the ecological niches of different taxa of macroinvertebrates such as Coleoptera, Ephemeroptera, Hemiptera, Megaloptera, Lepidoptera, Odonata, Plecoptera, Trichoptera, Acari, and Mollusca. Based on these models, we analyzed the contribution of currently established protected areas in the conservation of the aquatic biodiversity and we propose a spatial prioritization taking into account possible conflict regarding different land uses. Our analysis units were the real watersheds, to which were added longitudinal connectivity up and down the rivers. A total of 132 species were modeled in the priority area analyses. The analysis 1 showed that only an insignificant percentage of the macroinvertebrates distribution is within the protected areas in the North West of Argentina. The analyses 2 and 3 recovered similar values of protection for the macroinvertebrate species. The upper part of Bermejo, Salí-Dulce, San Francisco, and the Upper part of Juramento basins were identified as priority areas of conservation. The aquatic ecosystems need special protection and 10% or even as much as 17% of land conservation is insufficient for species of macroinvertebrates. In turn the protected areas need to combine the aquatic and terrestrial systems and need to include macroinvertebrates as a key group to sustain the biodiversity. In many cases, the land uses are in conflict with the conservation of biodiversity; however, it is possible to apply the connectivity of the watersheds and create multiple-use modules.
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The genus Parakari was described from Guiana Highlands in southeastern Venezuela by Nieto & Derka in 2011 for two species inhabiting streams draining isolated, flat-topped table mountains called tepuis. A description of a third representative, Parakari roraimensis sp. n., is given here based on material collected from a coldwater stream at the foothills of Roraima-tepui (SE Venezuela). Detailed morphological descriptions of mature nymph and female adult are given. A differential diagnosis and a key to nymphs of the three Parakari species are provided.
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Ephemeroptera/classificação , Distribuição Animal , Estruturas Animais/anatomia & histologia , Estruturas Animais/crescimento & desenvolvimento , Animais , Tamanho Corporal , Ecossistema , Ephemeroptera/anatomia & histologia , Ephemeroptera/crescimento & desenvolvimento , Feminino , Masculino , Tamanho do ÓrgãoRESUMO
As a continuation of a series of papers to improve the knowledge of the Ephemeroptera fauna of the Venezuelan Guayana's Uplands, an update of the families Leptophlebiidae, Euthyplociidae and Oligoneuriidae in the region is presented. As a result, Paramaka incognita sp. nov. is described, the female of Askola emmerichi is described for the first time, and the genera Askola, Hydrosmilodon and Leentvaaria, the subgenus Miroculis (Atroari) and the species Miroculis (M.) marauiae are recorded for the first time for Venezuela.
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Ephemeroptera/classificação , Distribuição Animal , Estruturas Animais/anatomia & histologia , Estruturas Animais/crescimento & desenvolvimento , Animais , Tamanho Corporal , Ecossistema , Ephemeroptera/anatomia & histologia , Ephemeroptera/crescimento & desenvolvimento , Feminino , Masculino , Tamanho do Órgão , VenezuelaRESUMO
NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations.
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Heterozigoto , Doenças Mitocondriais/genética , Mutação de Sentido Incorreto , NADH Desidrogenase/genética , Sequência de Aminoácidos , Pré-Escolar , Complexo I de Transporte de Elétrons , Metabolismo Energético , Humanos , Imageamento por Ressonância Magnética , Masculino , Dados de Sequência Molecular , NADH Desidrogenase/químicaRESUMO
Resumen Introducción: la deficiencia de lipasa ácida lisosomal (LAL-D) es una entidad de herencia autosómica recesiva que lleva a la acumulación de esteres de colesterol y triglicéridos en el hígado, bazo y otros órganos. La edad de inicio y la tasa de progresión son muy variables, lo que posiblemente sea explicado por las mutaciones presentes en el gen LIPA. Las manifestaciones clínicas son las mismas que para otras patologías hepáticas, cardiovasculares y metabólicas, lo que hace difícil reconocerla en la práctica clínica. Objetivo: proveer una guía que permita a los clínicos reconocer los principales grupos de riesgo en los cuales se debe sospechar de LAL-D y mejorar su diagnóstico. Metodología: este documento se diseñó como un consenso de expertos en el cual participaron médicos especialistas en gastroenterología, hepatología, endocrinología, genética, patología y pediatría. Se realizó una revisión de la literatura acerca de las manifestaciones clínicas y de las herramientas para el diagnóstico de LAL-D y se siguió la metodología de técnica de grupo nominal. Resultados: se generaron algoritmos diagnósticos por consenso para cada uno de los grupos de riesgo, que facilitaran la sospecha y el diagnóstico de LAL-D. Conclusiones: esta guía propone algoritmos para el diagnóstico de LAL-D con base en el consenso clínico, que buscan optimizar la ruta diagnóstica en los pacientes con dicha patología.
Abstract Introduction: Lysosomal acid lipase deficiency (LAL-D) is an inherited autosomal recessive entity that leads to the accumulation of cholesterol and triglyceride esters in the liver, spleen and other organs. The age of onset and rate of progression vary greatly, possibly explained by mutations of the LIPA gene. Clinical manifestations are the same as those of other hepatic, cardiovascular and metabolic pathologies which makes it difficult to recognize in clinical practice. Objective: The objectives of these guidelines is to help clinicians recognize the major groups at risk for LAL-D and to improve its diagnosis. Methodology: This document was designed as a consensus of experts in gastroenterology, hepatology, endocrinology, genetics, pathology and pediatrics. A review of the literature regarding clinical manifestations and tools for diagnosis of LAL-D was conducted and the nominal group technique was followed. Results: Diagnostic algorithms which facilitate suspicion and diagnosis of LAL-D were generated by consensus for each of the risk groups. Conclusions: This guide proposes algorithms for the diagnosis of LAL-D based on clinical consensus. The algorithms seek to optimize diagnosis for patients with this pathology.