Um caso de microdelecção em 22q11.2, numa doente com esquizofrenia, atraso mental e diabetes

Os autores descrevem o caso de uma doente de 31 anos, do sexo feminino que, aos 26, iniciara um quadro de esquizofrenia, diagnosticada pela DSM-IV e ICD-10. Foi inicialmente tratada com haloperidol, mas após um segundo surto, já com 27 anos, foi-lhe prescrito risperidona. Aos 28 anos, foi-lhe diagnosticada uma diabetes tipo I. Por apresentar várias malformações - consistentes com o síndroma velo-cárdio-facial (SVCF) - os autores decidiram realizar uma análise do cromossoma 22, na região 22q11.2 que está associada ao SVCF e à esquizofrenia. Apurou-se a existência de uma microdeleção em 22q11.2. Os autores discutem implicações clínicas e genéticas deste achado, no que diz respeito à esquizofrenia, síndroma velo-cárdio-facial e diabetes mellitus

Developmental Defects of Enamel in Primary Teeth and Association with Early Life Course Events: A Study of 6--36 Month old Children in Manyara, Tanzania.

Children with low birth weight show an increased prevalence of developmental defects of enamel in the primary dentition that subsequently may predispose to early childhood caries (ECC).Focusing 6--36 months old, the purpose of this study was to assess the frequency of enamel defects in the primary dentition and identify influences of early life course factors; socio-demographics, birth weight, child's early illness episodes and mothers' perceived size of the child at birth, whilst controlling for more recent life course events in terms of current breastfeeding and oral hygiene. A cross-sectional study was conducted in the high fluoride area of Manyara, northern Tanzania including 1221 child-mother pairs who attended Reproductive and Child Health (RCH) clinics for immunization and/or growth monitoring. After the primary caregivers had completed face to face interviews at the health care facility, children underwent oral clinical examination whereby ECC and developmental defects of enamel were recorded using field criteria. All erupted teeth were examined and the enamel defects were assessed on buccal surfaces according to the modified DDE Index. The prevalence of enamel defects was 33.3%. Diffuse opacities were the most common defects identified (23.1%), followed by hypoplasia (7.6%) and demarcated opacities (5.0%). The most frequently affected teeth were the upper central incisors (29.0% - 30.5%), whereas lower central incisors (4.3% to 4.5%) were least frequently affected. Multiple logistic regression analysis, adjusting for confounding the factors revealed that having normal birth weight (equal or more than 2500 g) associated with lower odds of having enamel hypoplasia [OR 0.22 (95% CI 0.1-0.7)]. No statistically significant association occurred between birth weight and diffuse opacities, demarcated opacities or combined DDE. Children with the history of low birth weight were more likely than their normal birth weight counterparts to present with enamel hypoplasia. In view of the frequent occurrence of enamel defects and the fact that hypoplasia may constitute a risk factor for future ECC, enamel defects should be included as a dental health indicator in epidemiological studies of children in northern Tanzania

Histopathological characterization of experimentally induced cutaneous loxoscelism in rabbits inoculated with Loxosceles similis venom

Envenomation by Loxosceles bites is characterized by dermonecrotic and/or systemic features that lead to several clinical signs and symptoms called loxoscelism. Dermonecrotic lesions are preceded by thrombosis of the dermal plexus. Recent studies show that atheromatous plaque is prone to thrombosis due to endothelial cell apoptosis. To the best of our knowledge, there are no reports of microscopic dermal lesion and endothelial cell apoptosis induced by Loxosceles similis venom in the literature. Thus, the aim of the present study is to describe histological lesions induced by L. similis venom in rabbit skin and to elucidate whether apoptosis of endothelial cells is involved in the pathogenesis of loxoscelism. Forty male rabbits were split into two groups: the control group (intradermally injected with 50 µL of PBS) and the experimental group (intradermally injected with 0.5 µg of L. similis crude venom diluted in 50 µL of PBS). After 2, 4, 6 and 8 hours of injection, skin fragments were collected and processed for paraffin or methacrylate embedding. Sections of 5 µm thick were stained by HE, PAS or submitted to TUNEL reaction. Microscopically, severe edema, diffuse heterophilic inflammatory infiltrate, perivascular heterophilic infiltrate, thrombosis, fibrinoid necrosis of arteriolar wall and cutaneous muscle necrosis were observed. Two hours after venom injection, endothelial cells with apoptosis morphology were evidenced in the dermal plexus. Apoptosis was confirmed by TUNEL reaction. It seems that endothelial cell apoptosis and its consequent desquamation is an important factor that induces thrombosis and culminates in dermonecrosis, which is characteristic of cutaneous loxoscelism

Associação do reflexo vermelho em recém-nascidos com variáveis neonatais

Objetivou-se investigar o resultado do teste do reflexo vermelho, conhecido como teste do olhinho, e associar as impressões do reflexo com variáveis neonatais. Este é um estudo descritivo, quantitativo, realizado com 190 recém-nascidos de uma maternidade pública, dos quais 187 apresentaram resultado não alterado e três suspeitos. Observaram-se diferentes nuances de coloração do reflexo: em 50 (26,3%) a coloração do reflexo apresentou-se vermelha; 34 (17,9%) laranja-avermelhado; 92 (48,4%) alaranjado; 11 (5,8%) amarelo claro e três (1,6%) com manchas esbranquiçadas. Encontraram-se associações estatisticamente significantes entre o instrumento gradiente de cores e variáveis neonatais: peso (p=0,03), idade gestacional (p=0,019) e oxigenoterapia (p=0,024). Enfermeiros capacitados para prática e avaliação desse teste podem se tornar profissionais em potencial para a prevenção da cegueira infantil.The aim of this study was to investigate the results of the red reflex test and to associate these results with neonatal variables. This descriptive study was conducted with 190 newborns in a public maternity hospital. A total of 187 infants presented no alteration and three presented suspect results. Different shades of reflex color were observed: 50 (26.3%) presented red; 34 (17.9%) orange-red, 92 (48.4%) orange, 11 (5.8%) light yellow and three (1.6%) milky white spots. Statistically significant associations between the color gradient instrument and neonatal variables were found: weight (p=0.03), gestational age (p=0.019) and oxygen therapy (p=0.024). Nurses trained to practice and evaluate this test may become professionals in the potential for the prevention of childhood blindness.Se objetivó investigar el resultado de la prueba del reflejo rojo, conocido como prueba del ojito, y asociar las impresiones del reflejo con variables neonatales. Se trata de un estudio descriptivo, cuantitativo, realizado con 190 recién nacidos de una maternidad pública; de los cuales 187 presentaron resultados no alterados y tres sospechosos. Se observaron diferentes matices de coloración del reflejo: en 50 (26,3%) se presentó rojo; 34 (17,9%) naranja rojizo; 92 (48,4%) anaranjado; 11 (5,8%) amarillo claro y tres (1,6%) con manchas blanquecinas. Se encontraron asociaciones estadísticamente significativas entre el instrumento gradiente de colores y las variables neonatales: peso (p=0,03), edad de gestación (p=0,019) y oxigenoterapia (p=0,024). Enfermeros capacitados para la práctica y evaluación de esa prueba pueden tornarse profesionales en potencial para la prevención de la ceguera infantil

Assessment of Chronic Illness-Related Cognitive Fusion: Preliminary Development and Validation of a New Scale with an IBD Sample

Although research recognizes the advantages of creating specific content measures, no specific measure of chronic illness-related cognitive fusion had been developed to date. The current study presents the development and validation of the Cognitive Fusion Questionnaire-Chronic Illness (CFQ-CI) in a sample of inflammatory bowel disease (IBD) patients and the analysis of the role of this construct in the psychological health of those patients. Results indicated that the 7-item CFQ-CI was a unidimensional measure of cognitive fusion in patients with chronic illnesses, and that scores had adequate/good internal consistency and construct, convergent, and discriminant validity. This study also showed that chronic illness-related cognitive fusion as assessed by the CFQ-CI acted as a mediator in the association between both IBD-related symptoms and shame with quality of life. The development of the CFQ-CI may thus contribute to a better understanding of the mechanisms influencing functional outcomes in chronic illness

Restoration and conservation of priority areas of caatinga’s semi‐arid forest remnants can support connectivity within an agricultural landscape

Land-use and land-cover (LULC) changes are major drivers of biodiversity loss in semi-arid regions, such as the Caatinga biome located in the Northeast of Brazil. We investigated landscape dynamics and fragmentation in an area of the São Francisco Valley in the Brazilian Caatinga biome and measured the effect of these dynamics on ecological, functional and structural connectivity over a 33-year period (1985–2018). We calculated landscape connectivity indices based on graph theory to quantify the effect of further agricultural expansion on ecological connectivity at the landscape scale. We used a multicriteria decision analysis that integrates graph-based connectivity indices at the habitat patch scale, combined with an index of human disturbance to identify patches that, if conserved and restored, preserve the connectivity of the landscape most effectively. In the period studied, agriculture increased at a rate of 2104 ha/year, while native Caatinga vegetation decreased at a rate of 5203 ha/year. Both dense and open Caatinga became more fragmented, with the number of fragments increasing by 85.2% and 28.6%, respectively, whilst the average fragment size decreased by 84.8% and 6.1% for dense and open Caatinga, respectively. If agriculture patches were to expand by a 300 m buffer around each patch, the overall ecological connectivity could be reduced by 6–15%, depending on the species’ (small- to mid-size terrestrial vertebrates) mobility characteristics for which the connectivity indices were calculated. We provided explicit spatial connectivity and fragmentation information for the conservation and restoration of the Caatinga vegetation in the studied area. This information helps with conservation planning in this rapidly changing ecosystem.</jats:p

Depurated fish as an alternative reference for field-based biomarker monitoring

The whole of the Swan-Canning Estuary, in the south-west of Australia, is impacted by human activity, and the selection of a local reference site to assess the impact of environmental contamination on the health of biota is not possible. To determine whether fish depurated under laboratory conditions could be used as an alternative to a reference site; adult black bream (Acanthopagrus butcheri) were collected from the estuary and maintained in clean water (S24) for 3 months. A suite of biomarkers of fish health were assessed, and the results were compared with field-captured black bream from three sites within the estuary (Ascot, Claisebrook, and Riverton). Comparisons of a subset of biomarkers were also made between hatchery-bred juvenile fish and the depurated fish. Biomarker levels were up to 3.8 times higher in field captured fish compared with depurated fish, while DNA integrity was lower. EROD activity was comparable in the hatchery-bred black bream to the depurated fish while s-SDH levels were two times higher in the hatchery fish. From the results obtained, field-captured black bream depurated for 3 months are suitable to determine reference/baseline levels for biomarker of health studies in estuarine environments