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Importance of neonatal screening:A case study of sickle cell disease and cystic fibrosis coexistence

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World Journal of Clinical Pediatrics 2025年第1期14卷 113-118页

作者： Nathalia Noyma Sampaio Magalhães Lucas Barra Mathiasi daniela de oliveira Werneck Rodrigues department of Pediatrics Faculdade de Ciências Médicas e da Saúde de Juiz de ForaJuiz de Fora 36033-003Brazil department of Internal Medicine Rede D'Or Rio de JaneiroRio de Janeiro 22270-010Brazil department of Hematology Fundação HemominasJuiz de Fora 36010-560MGBrazil department of Internal Medicine Universidade Presidente Antônio Carlos-Faculdade de Medicina Juiz de ForaJuiz de Fora 36010-560Minas GeraisBrazil

BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other *** cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin *** is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface *** is crucial for early diagnosis and management,which ensures a better quality of *** To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature *** This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical *** authors identified only 5 cases of SCA associated with *** clinical trials or review articles were identified considering the rarity of the coexistence of these two *** Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive *** diagnosis of CF was confirmed by the Coulometry Sweat *** rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical *** This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.

关键词： Sickle cell disease Sickle cell anemia Children Cystic fibrosis Neonatal Screening Case reports

Silymarin Attenuates Hepatic and Pancreatic Redox Imbalance Independent of Glycemic Regulation in the Alloxan-induced Diabetic Rat Model

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Biomedical and Environmental Sciences 2020年第9期33卷 690-700页

作者： Miranda Laise Mara oliveira Agostini Livia da Cunha Lima Wanderson Geraldo de Camini Fernanda Caetano Costa daniela Caldeira Programa de Pos-graduagao em Saude e Nutricao Escola de NutricaoUniversidade Federal de Ouro PretoOuro PretoMinas Gerais 35400-000Brazil Escola de Farmacia Universidade Federal de Ouro Preto.Ouro PretoMinas Gerais 35400-000Brazil Laboratorio de Morfopatologia Departamento de Ciencias BioldgicasUniversidade Federal de Ouro PretoOuro Preto 35400-000Brazil Programa de Pos-graduaqao em Ciencias Bioldgicas Nucleo de Pesquisas em Ciencias BiologicasUniversidade Federal de Ouro Preto.Ouro Preto 35400-000Brazil Laboratorio de Bioquimica Metabolica Departamento de Ciencias BiologicasUniversidade Federal de Ouro PretoOuro Preto 35400-000Brazil

Objective To evaluate the efficiency of silymarin(SMN) in modulating metabolic parameters and redox status in rats with type 1 diabetes mellitus(T1 DM).Methods Diabetes was induced by intraperitoneal injection of alloxan. The diabetic rats were administered with SMN at doses of 50 and 100 mg/kg body weight/d for 30 consecutive days. The rats were divided into the following four groups: vehicle control, diabetic(alloxan-treated), DS50(alloxan +50 mg/kg body weight/d of SMN), and DS100(alloxan + 100 mg/kg body weight/d of SMN) groups. The bodyweight and food and water intake were evaluated. After 30 d, the animals were euthanized and the blood was collected for measuring the serum levels of glucose, triacylglycerol(TAG), urea, and creatinine. The liver and pancreas were collected for measuring the activities of superoxide dismutase(SOD) and catalase(CAT), and the levels of carbonylated protein(PC). The pancreas sample was also used for histological *** SMN reduced hepatic(P decreasing food(P decrease blood glucose levels in diabetic *** SMN improved polyphagia and polydipsia, renal function, and protected the liver and pancreas against protein damage without affecting hyperglycemia in diabetic animals.

关键词： Silymarin Silybum marianum Type 1 diabetes Oxidative stress

FAIREST:A Framework for Assessing Research Repositories

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Data Intelligence 2023年第1期5卷 202-241页

作者： Mathieu d'Aquin Fabian Kirstein daniela oliveira Sonja Schimmler Sebastian Urbanek LORIA Universitéde LorraineCNRSINRIA 54506Vandoeuvre-les-NancyFrance Fraunhofer FOKUS 10589 BerlinGermany Weizenbaum Institute for the Networked Society 10623 BerlinGermany LaSIGE Faculdade de CieciasUniversidade de Lisboa1749-016 LisboaPortugal

The open science movement has gained significant momentum within the last few *** comes along with the need to store and share research artefacts,such as publications and research *** this purpose,research repositories need to be established.A variety of solutions exist for implementing such repositories,covering diverse features,ranging from custom depositing workflows to social media-like *** this article,we introduce the FAIREST principles,a framework inspired by the well-known FAIR principles,but designed to provide a set of metrics for assessing and selecting solutions for creating digital repositories for research *** goal is to support decision makers in choosing such a solution when planning for a repository,especially at an institutional *** metrics included are therefore based on two pillars:(1)an analysis of established features and functionalities,drawn from existing dedicated,general purpose and commonly used solutions,and(2)a literature review on general requirements for digital repositories for research artefacts and related *** further describe an assessment of 11 widespread solutions,with the goal to provide an overview of the current landscape of research data repository solutions,identifying gaps and research challenges to be addressed.

关键词： research repositories FAIR principles open access research data

In vitro toxicity of particulate matter emissions from residential pellet combustion

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Journal of Environmental Sciences 2022年第5期34卷 215-226页

作者： Estela D.Vicente daniela Figueiredo Catia Goncalves Isabel Lopes Helena oliveira Nora Kovats Teresa Pinheiro Celia A.Alves department of Environment and Planning and CESAM-Centre for Environmental and Marine Studies University of Aveiro3810-193 AveiroPortugal department of Biology and CESAM-Centre for Environmental and Marine Studies University of Aveiro3810-193 AveiroPortugal Centre of Natural Environmental Sciences University of PannoniaEgyetem str.108200 VeszpremHungary Instituto de Bioengenharia e Biociencias Departamento de Engenharia e Ciencias NuclearesInstituto Superior TecnicoUniversidade de LisboaAv.Rovisco Pais 11049-001 LisboaPortugal

Particulate matter emissions(PM10)from the combustion,in a residential stove,of two com-mercial brands of certified(ENplus A1)pellets,a non-certified brand and laboratory made pellets of acacia were tested for their ability to induce ecotoxic,cytotoxic,and mutagenic re-sponses in unicellular organisms and a human cell *** was evaluated through the Vibrio fischeri bioluminescence inhibition ***,cytotoxicity was assessed at two time points(24-and 48-hr)through two complementary techniques in order to evaluate the cellular metabolic activity and membrane integrity of human lung epithelial cells *** Ames test using two Salmonella typhimurium strains(TA100 and TA98)was employed to assess the mutagenic potential of the polycyclic aromatic hydrocarbon fraction extracted from the PM10 *** obtained with the bioluminescent bacteria indicated that only particles from the combustion of acacia pellets were *** samples induced im-pairment on the A549 cells metabolic activity,while no significant release of lactate dehy-drogenase was ***10 emissions from acacia pellets were the most cytotoxic,while samples from both certified pellets evoked significant cytotoxicity at lower ***-icity time-dependency was only observed for PM10 from the combustion of acacia pellets and one of the brands of certified *** activity was not detected in both *** murium *** study emphasises the role of the raw material for pellet manu-facturing on the toxicological profile of PM *** raw materials should be deeply investigated before their use in pelletisation and combustion in residential appli-ances.

关键词： Ecotoxicity Cytotoxicity Mutagenicity Fuel quality Pellet combustion PM10 emissions

Prevalence of congenital cytomegalovirus infection in preterm,small for gestational age and low birth weight newborns:characteristics and cytokines profile

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World Journal of Pediatrics 2022年第7期18卷 498-504页

作者： Janaina Fortes Lino Llian Martins oliveira Diniz debora Marques de Miranda daniela Valadao Freitas Rosa Nathalia Gualberto Souza e Silva Eduardo de Souza Nicolau Larissa Goncalves Rezende Lais Silva Carvalho Marianna Fischer de Paula Lopes Luisa Petri Correa Gabriela Mafra de oliveira Flavia Miranda da Silva Alves Lorena Batista Pascoal Erika Lima Dolabella Teixeira da Costal Leni Marcia Anchieta Roberta Maia de Castro Romaneli Odete Valadares Maternity Hospital Belo HorizonteBrazil Pediatrics department.Faculy of Medice of Federal University of Minas Gerais Belo Horizonte.Brazil Molecular Laboratory of the INCT-MM.Faculy of Medicine.Federal University of Minas Gerais-UFMG.Belo Horizonte Brazil Faculty of Medicine.Federal University of Minas Gerais-UFMG Belo Horizonte.Brazil Risoleta Tolentino.Neves University Hospital's Maternity Belo HorizonteBrazil Sofia Feldman Maternity Hospital Belo HorizonteBrazil Hospital das Clinicas Maternity-Federal University of Minas Gerais.Belo Horizonte Brazil Pediatrics department of Federal University of Minas Gerais School Medicine.Minas Gerais.Av Professor Alfredo Balena 190.Belo Horizonte 30130-100Brazil

Cytomegalovirus is the most frequent agent of congenital viral infections,affecting approximately 0.2%-2.4%of live births in different countries[1-7].Universal screening for congenital cytomegalovirus infection in newborns is not a standard practice considering cost-benefit issues and viabil-ity of diagnostic ***,most newborns are asympto-matic and there is no effective treatment for this population[2-5].

关键词： weight birth characteristics

Comparison of morphological and functional outcomes of mouse sciatic nerve repair with three biodegradable polymer conduits containing poly (lactic acid)

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Neural Regeneration Research 2018年第10期13卷 1811-1819页

作者： Fernanda Marques Pestana Rui C.C.Domingues Júlia Teixeira oliveira daniela F.P.A.Durco Camila oliveira Goulart Henrique Rocha Mendonca Anne Caroline Rodrigues dos Santos Natália Tavares de Campos Beatriz Theodoro da Silva Cristina Cardoso Pereira Cristiano Piacsek Borges Ana Maria Blanco Martinez Pós Graduacao em Ciências Morfológicas Instituto de Ciências Biomédicas-UFRJRio de Janeiro RJ Brazil Anatomia Patológica-Faculdade de Medicina-HUCFF-UFRJ Rio de Janeiro RJ Brazil Laboratório de Neurodegeneracao e Reparo-Faculdade de Medicina-HUCFF-UFRJ Rio de Janeiro RJ Brazil Programa de Eng. Química COPPE-UFRJRio de Janeiro Brazil Polo Universitário de Macaé Laboratório Integrado de Produtos Bioativos e BiociênciasMacaê UFRJ Brazil

Poly（lactic acid）（PLA）-containing nerve guidance conduits（NGCs） are currently being investigated for nerve repair as an alternative to autograft, which leads to permanent functional impairment in the territory innervated by the removed nerve. Combination of polymers modifies the physical properties of the conduits, altering their nerve-guidance properties. Conduits made from PLA-only or combined with other polymers have been used successfully for nerve repair, but their efficiency has not been compared. We compared the morphological and functional outcomes of peripheral nerve repair by using NGCs made of poly（lactic acid） and combined or not with polycaprolactone（PLA/PCL） or polyvinylpyrrolidone（PLA/PVP）. To assess the functional recovery, we employed a mechanical hyperalgesia analysis, sciatic functional index（SFI）, and electroneuromyography. The mechanical hyperalgesia analysis showed that the PLA group improved more rapidly than the PLA/PVP and PLA/PCL groups; similarly, in the electroneuromyography assay, the PLA group exhibited higher amplitude than the PLA/PCL and PLA/PVP groups. However, the SFI improvement rates did not differ among the groups. Morphologically, the PLA group showed more vascularization, while the nerve fiber regeneration did not differ among the groups. In conclusion, the PLA-only conduits were superior to the other NGCs tested for nerve repair.

关键词： sciatic nerve tubulization biodegradable conduit poly(lactic acid) regeneration

Inhibition of Ptychopetalum olacoides on Acetylcholinesterase Isoforms in Brain of Mice

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Chinese Herbal Medicines 2012年第3期4卷 189-194页

作者： FIGUEIRó Micheli POCHMANN daniela PORCIúNCULA Lisiane oliveira NUNES Domingos Sávio ELISABESTKY Elaine Laboratório de Etnofarmacologia Departamento de Farmacologia Instituto de Ciências Básicas da Saúde Universidade Federal do Rio Grande do Sul Rua Sarmento Leite 500 Porto Alegre Brazil Laboratório de Estudos sobre o Sistema Purinérgico PPG-Bioquímica Instituto de Ciências Básicas da Saúde Universidade Federal do Rio Grande do Sul Rua Sarmento Leite 500 Porto Alegre Brazil departamento de Química Universidade Estadual de Ponta Grossa Campus Uvaranas Bloco M Ponta Grossa Brazil

Objective To further characterize the acetylcholinesterase inhibitors (AChE-Is) pattern of Ptychopetalum olacoides ethanol extract (POEE) on the cytosolic globular monomer (G1) and membrane bound globular tetramer (G4) AChE isoforms in brain areas relevant for cognition. Methods The G1 and G4 AChE isoforms were prepared according to the reported methods and the determination of AChE activity used was adapted from colorimetric method. Results POEE mostly inhibited G1 in hippocampus (75%), and G4 in frontal cortex (58%) and striatum (75%) (P dering the high density of cholinergic projection to the cortex and striatum, and the usefulness of conserving cytosolic acetylcholine to replenish synaptic vesicles in a highly active cognition site such as hippocampus, we argue that this could be a desirable profile for a clinically relevant AChE-I.

关键词： acetylcholinesterase Alzheimer’s disease kinetic analysis molecular isoforms Ptychopetalum olacoides

Epigenetic regulation of TP53 is involved in prostate cancer radioresistance and DNA damage response signaling

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Signal Transduction and Targeted Therapy 2023年第11期8卷 5404-5416页

作者： Catarina Macedo-Silva Vera Miranda-Gonçalves Nuno Tiago Tavares daniela Barros-Silva Joana Lencart João Lobo Ângelo oliveira Margareta PCorreia Lucia Altucci Carmen Jerónimo Cancer Biology&Epigenetics Group Research Center of IPO Porto(CI-IPOP)/CI-IPOP@RISE(Health Research Network)Portuguese Oncology Institute of Porto(IPO-Porto)/Porto Comprehensive Cancer Center Raquel Seruca(Porto.CCC)R.Dr.António Bernardino de Almeida4200-072PortoPortugal department of Precision Medicine University of Campania“Luigi Vanvitelli”80138NaplesItaly department of Pathology and Molecular Immunology ICBAS-School of Medicine&Biomedical SciencesUniversity of PortoR.Jorge de Viterbo Ferreira 2284050-313PortoPortugal Medical Physics Radiobiology and Radiation Protection Group-Research Center of IPO Porto(CI-IPOP)/CI-IPOP@RISE(Health Research Network)Portuguese Oncology Institute of Porto(IPO-Porto)/Porto Comprehensive Cancer Center Raquel Seruca(Porto.CCC)R.Dr.António Bernardino de Almeida4200-072PortoPortugal department of Medical Physics Portuguese Oncology Institute of Porto4200-072PortoPortugal department of Pathology Portuguese Oncology Institute of PortoPortoPortugal department of Radiation Oncology Portuguese Oncology Institute of PortoPortoPortugal BIOGEM Molecular Biology and Genetics Research Institute83100AvellinoItaly IEOS Institute of Endocrinology and Oncology80100NaplesItaly

External beam radiotherapy(RT)is a leading first-line therapy for prostate cancer(PCa),and,in recent years,significant advances have been ***,RT resistance can arise and result in long-term recurrence or disease progression in the worst-case ***,making crucial the discovery of new targets for PCa ***,we generated a radioresistant PCa cell line,and found p53 to be highly expressed in radioresistant PCa cells,as well as in PCa patients with recurrent/disease progression submitted to *** dissection revealed that RT could promote p53 expression via epigenetic ***,a decrease of H3K27me3 occupancy at TP53 gene promoter,due to increased KDM6B activity,was observed in radioresistant PCa ***,p53 is essential for efficient DNA damage signaling response and cell recovery upon stress induction by prolonged fractionated ***,KDM6B inhibition by GSK-J4 significantly decreased p53 expression,consequently attenuating the radioresistant phenotype of PCa cells and hampering in vivo 3D tumor ***,this work contributes to improve the understanding of p53 as a mediator of signaling transduction in DNA damage repair,as well as the impact of epigenetic targeting for PCa radiosensitization.

关键词： TP53 damage cancer

Swallowing patterns after adenotonsillectomy in children

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Pediatric Investigation 2019年第3期3卷 153-158页

作者： Anete Antunes de oliveira Branco Camila de Castro Corrêa daniela de Souza Neves Tais Huehara Silke Anna Theresa Weber Ophthalmology OtorhinolaryngologyHead and Neck Surgery DepartmentBotucatu Medical SchoolState University Sao PauloUNESPBrazil

Importance: Hypertrophy of the pharyngeal and palatine tonsils can interfere with breathing, physical and cognitive development, and quality of life, including sleep quality. There are important relationships between the muscles of the airways, the anatomy, and the pattern of breathing and swallowing. Objective: The aims of the present study were to evaluate the swallowing process in children after adenotonsillectomy undertaken to treat obstructive breathing disorders. Methods: Subjects were 85 children or adolescents who underwent adenotonsillectomy in a reference hospital between 2003 and 2007. For the clinical evaluation of swallowing, the protocol of orofacial myofunctional evaluation with scores (OMES) was used, videofluoroscopy of deglutition was performed, and the Dysphagia Outcome and Severity Scale (DOSS) and Classification for Severity of Dysphagia to Videofluoroscopy Scale were applied for analysis. Results: Out of the 85 evaluated children, 43 were male (50.59%), the average age at evaluation was 12.11 years, the average age at the time of surgery was 6.73 years, and post-surgery time was 3.00–8.00 years. In the clinical evaluation of swallowing, half the sample (50.59%) recorded the poorest score for lip and tongue behavior. A score of 1 was observed in 67.06% of subjects for other behaviors, and in 15.30% of subjects for efficiency of swallowing. Videofluoroscopic analysis demonstrated that the most frequent swallowing alterations were labial sealing (50.59%), residue in vallecula (51.76%), and use of compensatory maneuvers (61.18%). Analysis of DOSS showed that normal swallowing was attributed to 48.31% of subjects at level 7, 44.95% at level 6, and 6.74% at level 5. For the Classification for Severity of Dysphagia to Videofluoroscopy, 75.28%were classified as having mild dysphagia. Interpretation: Alterations in the dynamics of swallowing are common in children who have undergone surgery of the tonsils, even at late follow-up.

关键词： deglutition deglutition disorders Adenoids Palatine tonsil Child