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Muckle-Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family

World Journal of Pediatrics 2020年第5期16卷 541-542页

作者： Soraia Raquel Loureiro Azevedo daniela filipa marinho peixoto Rheumatology Department Unidade Local de Satúde Do Alto MinhoHospital Conde Bertiandos4990-041Ponte de LimaPortugal

Several medical conditions can present as fever and rash in children,including infections,hypersensitivity reactions and immune-mediated diseases[1].Cryopyrin-associated periodic syndrome(CAPS)is a group of inherited autoinflammatory disorders caused by gain-of-function mutations in the NLRP3 gene(CIAS 1).CAPS encompass a spectrum of diseases including Muckle-Wells syndrome(MWS).The A439V mutation is considered a disease-causing mutation,although clinical phenotypes can be diverse[2].MWS is characterized by recurrent episodes of fever,urticarial rash,arthralgia/arthritis,and more rarely,oral ulcers,folliculitis,or erythema nodosum[3].

关键词： diagnosis CAPS fever

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Laser-based in situ embedding of metal nanoparticles into bioextruded alginate hydrogel tubes enhances human endothelial cell adhesion

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Nano Research 2016年第11期9卷 3407-3427页

作者： Andreas Blaeser Nina Million daniela filipa Duarte Campos Lisa Gamrad Marius Kopf Christoph Rehbock Milen Nachev Bernd Sures Stephan Barcikowski Horst Fischer Department of Dental Materials and Biomaterials Research RWTH Aachen University Hospital Pauwelsstr. 30 52074 Aachen Germany Technical Chemistry I and Center for Nanointegration Duisburg-Essen (CENIDE) University of Duisburg-Essen Universitatsstr. 5-7 45141 Essen Germany Aquatic Ecology University of Duisburg-Essen Universitatsstr. 5 45141 Essen Germany Center for Water and Environmental Research University of Duisburg-Essen Universitatsstr. 5 45141 Essen Germany

Alginate is a widely used hydrogel in tissue engineering owing to its simple and non-cytotoxic gelation process, ease of use, and abundance. However, unlike hydrogels derived from mammalian sources such as collagen, alginate does not contain cell adhesion Iigands. Here, we present a novel laser ablation technique for the in situ embedding of gold and iron nanoparticles into hydrogels. We hypothesized that integration of metal nanoparticles in alginate could serve as an alternative material because of its chemical biofunctionalization ability （coupling of RGD ligands） to favor cell adhesion. Cytocompatibility and biofunctionality of the gels were assessed by cell culture experiments using fibroblasts and endothelial cells. Nanoparticles with an average particle size of 3 nm （gold） and 6 nm （iron） were generated and stably maintained in alginate for up to 6 months. Using an extrusion system, several centimeter-long alginate tubes with an outer diameter of approximately 3 mm and a wall thickness of approximately 150 μm were manufactured. Confocal microscopy revealed homogeneously distributed nanoparticle agglomerates over the entire tube volume. Endothelial cells seeded on iron-loaded gels showed significantly higher viability and an increased degree of spreading, and the number of attached cells was also elevated in comparison to the control and gold-loaded alginates. We conclude that laser-based in situ integration of iron nanoparticles （40.01 wt.%） in alginate is a straightforward method to generate composite materials that favor the adhesion of endothelial cells. In addition, we show that nanoparticle integration does not impair the alginate＇s gelation and 3D biofabrication properties.

关键词： biofabrication tissue engineering HUVEC nanocomposite laser ablation confocal microscopy additive manufacturing

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Progressive Multifocal Leukoencephalopathy—A Case Report in an Immunocompetent Patient

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Advances in Infectious Diseases 2018年第1期8卷 10-16页

作者： Ana Faceira daniela Magalhaes filipa Ceia Joao Nuak Carina Reis Susana Ferreira Internal Medicine Department Hospital de Sao JoaoPortoPortugal Faculdade de Medicina da Universidade do Porto PortoPortugal Endocrinology Diabetes and Metabolism DepartmentHospital de Sao JoaoPortoPortugal Instituto de Investigacao e Inovacao em Saude Universidade do PortoPortoPortugal Infectious Diseases Department Hospital de Sao JoaoPortoPortugal Neuroradiology Department Hospital de Sao JoaoPortoPortugal

Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system due to the reactivation of the JC virus, which usually occurs in immunocompromised patients and is a major opportunistic infection associated with HIV infection. We report a case of a previously healthy patient who was diagnosed with PML.

关键词： Immunosuppression Immunocompetent JC Virus Progressive Multifocal Leukoencephalopathy

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CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

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Open Journal of Genetics 2018年第4期8卷 91-100页

作者： filipa Ferreira Ines Leal David Sousa Teresa Costa Conceicao Mota Ana Marta Gomes daniela Lopes Maria do Carmo Macario Isabel Tavares Helena Pinto Joao Paulo Oliveira Rita Magrico Celia Carmona Sonia Ramos Raquel Neiva Ana Marcao Laura Vilarinho Newborn Screening Metabolism and Genetics UnitHuman Genetics DepartmentNational Institute of Health Dr Ricardo JorgePortoPortugal Centro Hospitalar Lisboa Norte Hospital de Santa MariaLisboaPortugal Centro Hospitalar Universitario do Porto PortoPortugal Centro Hospitalar Vila Nova de Gaia EspinhoPortugal Centro Hospitalar Universitario de Coimbra CHUCCoimbraPortugal Servico de Genetica Medica Centro Hospitalar de Sao JoaoPortoPortugal Unidade de Genetica Faculdade de Medicina da Universidade do PortoPortoPortugal I3S—Instituto de Investigacao e Inovacao em Saude PortoPortugal Servico de Nefrologia do Hospital Garcia de Orta AlmadaPortugal Research and Development Unit Department of Human GeneticsNational Institute of Health Dr Ricardo JorgePortoPortugal

Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22;45.5%), and other five were compound heterozygous for this variant (15/22;68.2%). The other mutations found were p.Q128X (c.721 C>T;2/22), p.S139F (c.755 C>T;4/22) and c.18-21delGACT (p.T7FfsX7;1/22). All of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.

关键词： Cystinosis CTNS Gene Mutational Spectrum Kidney Failure 57-kb Deletion

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