A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.info:eu-repo/semantics/publishedVersio

New insights on biopolymer sterilization using supercritical co2 technology

info:eu-repo/semantics/draf

Estudo comparativo de métodos de determinação do teor de matéria orgânica em solos orgânicos do Estado do Rio de Janeiro.

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Biomarkers of idiosyncratic drug-induced liver injury (DILI) - a systematic review

Introduction: Idiosyncratic drug-induced liver injury (DILI) is an unpredictable event, and there are no specific biomarkers that can distinguish DILI from alternative explanations or predict its clinical outcomes. Areas covered: This systematic review summarizes the available evidence for all biomarkers proposed to have a role in the diagnosis or prognosis of DILI. Following a comprehensive search, we included all types of studies in humans. We included DILI cases based on any threshold criteria but excluded intrinsic DILI, commonly caused by paracetamol overdose. We classified studies into diagnostic and prognostic categories and assessed their methodological quality. After reviewing the literature, 14 studies were eligible. Expert Opinion: Diagnostic studies were heterogeneous with regard to the study population and outcomes measured. Prognostic models were developed by integrating novel biomarkers, risk scores, and traditional biomarkers, which increased their prognostic ability to predict death or transplantation by 6 months. This systematic review highlights the case of need for non-genetic biomarkers that distinguish DILI from acute liver injury related to alternative etiology. Biomarkers with the potential to identify serious adverse outcomes from acute DILI should be validated in independent prospective cohorts with a substantial number of cases.This paper was funded by the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 821283 (www.imi.europa.eu). This Joint Undertaking receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA. Translational Safety Biomarker Pipeline (TransBioLine): Enabling develop- ment and implementation of novel safety biomarkers in clinical trials and diagnosis of disease’ — ‘TransBioLine’ (‘action’). Grant Number: 821283

Design of green routes for cellulose extraction from a sugarcane by-product

info:eu-repo/semantics/publishedVersio

Interstitial deletion on chromosome 14q in prenatal diagnosis

A limited number of prenatal diagnosis (PND) cases have reported interstitial deletions of the long arm of chromosome 14 involving the 14q31-32 region. Those cases presented cardiac anomalies, urogenital anomalies, congenital diaphragmatic hernia, and mild pyelectasis. We report the PND of a 33-year-old pregnant woman, who underwent chorionic villus sampling at 12 weeks of gestation after a positive combined 1st trimester screen. The karyotype revealed a 14q interstitial deletion. Amniocentesis was performed at 18 weeks of gestation to confirm the deletion and to exclude a confined placental mosaicism and a microarray analysis was performed in order to accurately define the deletion breakpoints. Cytogenetics analysis revealed a karyotype 46,XY,del(14)(q31q32.2)dn. Microarray analysis allowed to redefined the breakpoints accurate localization and the identification of a ~21Mb deletion (arr[hg19] 14q31.1q32.31(79917376_101568230)x1). At 18 weeks of gestation the fetus presented abnormal fetal biometric parameters (occipitofrontal diameter, cephalic perimeter and abdominal circumference) on ultrasound. After counseling the couple opted for pregnancy termination. The postmorten analysis presented decreased biometry, low weight and low fetal size, facial dysmorphism, clinodactyly, club foot, overlapping fingers and short penis. In internal habitus he presented thymus hypoplasia, bladder hypoplasia, and horseshoe kidneys. The genotype-phenotype correlation in PND pure del(14q) cases is not well established. Furthermore, to our knowledge, del(14q) had not been reported so early in the gestation yet. In this case the positive 1st trimester screen was related to the inverted ductus venosus and low PAPP-A value. The urogenital anomalies (as horseshoe kidneys) and biometry anomalies are described in the literature. However, to our knowledge, some features of the present case were not seen in other reported cases, for instance clinodactyly, club foot, overlapping fingers, thymus hypoplasia and bladder hypoplasia. Other reports described cardiac and cerebral anomalies, diaphragmatic hernia, and also UPD(14)like phenotypes, which are possibly liked to the 14q32 imprinted region. The establishment of a phenotype-genotype correlation is difficult given the size of the deletion, which includes a large number of genes in distinct regions. Nevertheless, this work contributes to a better identification of additional features associated to del(14q) that can be present in PND.info:eu-repo/semantics/publishedVersio

Avaliação e perspectivas da abordagem à conservação do patrimônio organístico no Brasil

Órgãos de tubos são construídos no Brasil, ou importados do exterior, desde as primeiras décadas do período colonial. Estes instrumentos, apesar de constituírem um conjunto relativamente exíguo, representam um testemunho histórico e musical de valor inestimável. No entanto, de um modo geral, encontram-se em condições precárias de funcionamento e, em parte, mais ou menos descaracterizados profundamente, quanto à sua estrutura e configuração original, às vezes em estado de abandono e, por incrível que pareça, ainda sujeitos ao risco de intervenções arbitrárias e desprovidas de bases técnicas e de preocupação histórica e musicológica. Neste artigo, busca-se percorrer o caminho que levou à atual situação e discutem-se os princípios e os critérios de processos de recuperação, manutenção e conservação preventiva desse patrimônio, partindo dos pressupostos do respeito à sua originalidade e do direito a restauros segundo os rigorosos cânones já definidos para objetos com plena condição de bem cultural, cujo reconhecimento para os órgãos de qualquer época deve ser urgentemente garantido.Pipe organs have been built in Brazil or imported from elsewhere since the very first decades of the colonial period. Albeit relatively small in number, such instruments have inestimable historical and musical value. Notwithstanding, they are generally in very poor working condition and some have lost much of their original structure and configuration; they are often found in a state of abandonment and, incredible as it may seem, still under the threat of arbitrary interventions performed with no technical expertise or any concern for their historical and musicological significance. This article is an effort to understand how this state of affairs came to be, and discusses principles and criteria for the restoration, maintenance and preventive conservation of this legacy, based on assumptions regarding its original conditions and entitlement to restoration in accordance with the stringent standards already set for artifacts that enjoy the full status of cultural assets, which should also be urgently granted to pipe organs of any time and age

Hereditary breast cancer and ancestry in the Madeira archipelago: An exploratory study

Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the Hereditary Breast/Ovarian Cancer (HBOC) families with Madeira ancestry enrolled in our programme. Of a total of 3, 566 index patients tested between January 2000 and June 2018, 68 had Madeira ancestry and 22 were diagnosed with a pathogenic germline variant (PV). As in the whole group, BRCA2 PV were more frequent in Madeira patients (68.4%: c.9382C>T (26.3%), c.658_659del (21%), c.156_157insAlu (10.5%), c.793+1G>A (5.3%) and c.298A>T (5.3%). However, the most frequently diagnosed PV in Madeira patients was the BRCA1 c.3331_3334del (31.6%). BRCA1/2 detection rates were 27.9% and 10.5% for Madeira and the whole group, respectively. This study is the first characterisation of HBOC patients with Madeira ancestry. A distinct pattern of BRCA1/2 variants was observed, and the geographic clustering of BRCA1 c.3331_3334del variant may support the possibility of a founder mutation previously described in Northern Portugal. The high detection rate observed reinforces the need to reduce gaps in access to genetic testing in Madeira and other remote areas. According to current guidelines, timely identification of HBOC patients can contribute to their ongoing care and treatment

Caracterização das substâncias húmicas em solos orgânicos do Estado do Rio de Janeiro, sob diversas atividades agrícolas.

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