Projecto de unidade integrada de atendimento à infância

A UIAI corresponde assim à tentativa de operacionalizar os princípios contidos na filosofia de base e à procura de resposta integrada e inovadora às necessidades referidas. Em termos da sua estrutura interna podemos referir que esta Unidade inclui 4 Valências de Atendimento: ➢ Serviço Técnico de Intervenção Precoce ➢ Creche 8 ➢ Jardim de Infância ➢ Centro de Animação para a Infância Dentro deste Centro de Animação está ainda prevista a dinamização de um espaço exterior para Campo de Jogos e Espaço de Aventuras. No global as várias Valências são encaradas como um conjunto integrado e articulado, visando os objectivos gerais referidos. No entanto, cada um deles por si, terá uma estrutura própria dado que os âmbitos de intervenção específicos, objectivos, metodologias e recursos têm características próprias. Com este projecto colocamos um desafio às várias entidades no âmbito da saúde, da educação e do social, e à própria Cerci no sentido de ao nível deste Concelho e concretamente deste projecto se materializar a tão desejada articulação de serviços e disponibilização de meios. Na nossa perspectiva, a realidade social não se compadece com a divisão artificial (embora em parte necessária) de sectores de actividade distintos. A procura de solução a problemas desta natureza terá de ser multideterminada sob pena de dispendermos esforços e verbas para não darmos respostas cabais e eficazes. Os problemas são multifacetados as respostas devem-no ser também. Cabe às estruturas que estão no terreno e conhecem de perto a realidade, equacionar os problemas, dinamizar a comunidade, propor soluções.info:eu-repo/semantics/draf

Synergistic antimicrobial interaction of honey and bacteriophage in Escherichia coli biofilms

I Simpósio de Bioquímica AplicadaWound colonization by biofilms-forming bacteria is one of the main obstacles to the treatment of chronic wounds, causing a number of biological and financial problems. Biofilms are structured communities of bacterial cells enclosed in a self-produced polymeric matrix, adhered to inert or living surfaces, blocking antibiotics and patients immune cells from reaching bacteria. Bacterio(phages), viruses infecting exclusively bacteria, and honey are being considered as valuable alternatives to treat a variety of infections (Table 1). Phages are harmless to mammalian cells, specific for target bacteria therefore not affecting commensal microflora, have the ability to selfreplicate as long as the host is present, and are effective against antibiotic resistant bacteria. Honey is a complex substance with broad spectrum antimicrobial activity, essentially attributed to the high sugar content, low pH, the presence of hydrogen peroxide and methylglyoxal that reacts with important biological molecules (RNA, DNA and proteins). Honey had yet the potential to promote tissue regeneration, cicatrization, decrease inflammation, improving wound healing. In this work the combination of those two antimicrobial agents was considered in the control E. coli biofilms.Hospital Escala Braga (Braga,Portugal) for providing the clinical isolate. This study was supported by the Portuguese Foundation for Science and Technology (FCT) under the scope off the strategic funding of the UID/BIO/04469/2013 unit and COMPETE 2020(POCI-01-0145-FEDER-006684) and BioTecNorte operation (NORTE-01-0145-FEDER-000004) funded by the European Regional Development Fund under the scope of Norte 2020-Programa Operacional Regional do Norte and the Project RECI/BBB-EBI/0179/2012(FCOMP-01-0124-FEDER-027462) and the project PTDC/CVT-EPI/4008/2014(POCI-01-0145-FEDER-016598). Portuguese Foundation for Science and Technology (FCT) through the SFRH/BPD/69356/2010 and SFRH/BD/93078/2013. FCT (IF/01413/2013)info:eu-repo/semantics/publishedVersio

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

This article belongs to the Section Molecular Genetics and Genetic Diseases.The genetic complexity of neurodevelopmental disorders (NDD), combined with a heterogeneous clinical presentation, makes accurate assessment of their molecular bases and pathogenic mechanisms challenging. Our purpose is to reveal the pathogenic variant underlying a complex NDD through identification of the "full" spectrum of structural genomic and genetic variants. Therefore, clinical phenotyping and identification of variants by genome and exome sequencing, together with comprehensive assessment of these and affected candidate genes, were carried out. A maternally-inherited familial translocation [t(17;19)(p13.1;p13.3)mat] disrupting the GSG1 like 2 gene (GSG1L2), a 3.2 Mb dup(2)(q14.3q21.1) encompassing the autosomal dominant OMIM phenotype-associated PROC and HS6ST1 gene, and a novel frameshift c.4442del, p.(Gly1481Valfs*21) variant within exon 30 of the Chromodomain helicase DNA binding protein 4 (CHD4) have been identified. Considering the pathogenic potential of each variant and the proband's phenotype, we conclude that this case basically fits the Sifrim-Hitz-Weiss syndrome or CHD4-associated neurodevelopmental phenotype. Finally, our data highlight the need for identification of the "full" spectrum of structural genomic and genetic variants and of reverse comparative phenotyping, including unrelated patients with variants in same genes, for improved genomic healthcare of patients with NDD.If this article is accepted for publication, Open Access publication will be funded by UMIB—Unidade Multidisciplinar de Investigação Biomédica, ICBAS—Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal/ITR—Laboratory for Integrative and Trans lational Research in Population Health, Porto, Portugal (https://umib.icbas.up.pt/, accessed on 14 December 2022), both supported by FCT—Fundação para a Ciência e a Tecnologia in the frameworks of UIDP/00215/2020; LA/P/0064/2020. This research was supported by national funds through FCT—Fundação para a Ciência e a Tecnologia, Research Grant HMSP-ICT/0016/2013 of the Harvard Medical School—Portugal Program in Translational Research and Information.info:eu-repo/semantics/publishedVersio

Três rearranjos diferentes, três fenótipos diferentes :Estudo Familiar Cromossoma 14

Introdução – Cromossomas derivativos são o resultado de rearranjos estruturais que tanto podem ocorrer num só, como entre dois ou mais cromossomas. Estes rearranjos dão origem a cromossomas estruturalmente anormais, podendo resultar um fenótipo normal ou mais ou menos grave, dependendo do tipo de anomalia encontrada. Materiais e métodos – Caso índex: homem de 55 anos, referenciado para estudos de citogenética clássica (cariótipo com bandas GTG de alta resolução) e molecular (MLPA – kits P036 e P070 e FISH com sonda subtelomérica especifica para o cromossoma 14) por apresentar um quadro clínico de atraso mental. Posteriormente realizaram-se estudos citogenéticos a uma irmã com atraso cognitivo e baixa estatura, e a mais quatro familiares com fenótipos normais. Resultados – O cariótipo do caso índex revelou a existência de uma anomalia cromossómica estrutural desequilibrada num dos cromossomas 14, sugerindo uma deleção da banda 14q32, e uma duplicação do braço curto localizada na parte terminal do braço longo. Nos estudos de citogenética molecular, a técnica de MLPA identificou uma deleção da região subtelomérica no braço longo do cromossoma 14, em ambos os kits e, posteriormente, a técnica de FISH comprovou essa deleção. Após estudos familiares, concluiu-se que dois dos irmãos apresentavam anomalias cromossómicas distintas do caso índex, envolvendo igualmente o cromossoma 14. Apesar de não ser possível efetuar o cariótipo à mãe (falecida), presume-se que estas alterações tenham tido origem numa anomalia cromossómica materna, uma vez que o pai deste indivíduo apresentava um cariótipo normal. Conclusões – Os autores apresentam os resultados citogenéticos dos vários indivíduos estudados, e realçam a raridade da existência de três rearranjos diferentes (um deles aparentemente equilibrado e dois desequilibrados), envolvendo o cromossoma 14, encontrados numa mesma família

Sugar-lowering drugs for type 2 diabetes mellitus and metabolic syndromestrategies for in vivo administration: Part-II

Diabetes is a complex disease characterized by hyperglycemia, together with polyuria, polydipsia, and polyphagia. While Type 1 diabetes mellitus (T1DM) results from genetic, environmental, or immune dysfunction factors leading to pancreatic ß-cell destruction depriving the organism from endogenous insulin, Type 2 diabetes mellitus (T2DM) is characterized by peripheral insulin resistance. Depending on the type of diabetes mellitus and drug mechanism to study, the animal model should be carefully selected among the wide variety of the currently available ones. This review discusses the most common animal models currently employed to study T1DM and T2DM. Moreover, an overview on the administration routes that could be used is also discussed.The authors acknowledge the financial support received from Portuguese Science and TechnologyFoundation (FCT/MCT) and from European Funds (PRODER/COMPETE) under the project referenceM-ERA-NET/0004/2015-PAIRED, co-financed by FEDER, under the Partnership Agreement PT2020. The authors also acknowledge the support of the Institute of Nanoscience and Nanotechnology under the project ART (2018).info:eu-repo/semantics/publishedVersio

A assistência na Saúde da Família sob a perspectiva dos usuários

This descriptive exploratory study analyzed user satisfaction with the care received at a Family Health Unit in Ribeirão Preto, Brazil. In total, 40 users from families registered in the FHU were selected, using key informants and the snowball sampling technique, and interviewed. Thematic content analysis was used to analyze the empirical material. Interviewees were mostly female, over 50 years, resident in the catchment area of the unit for 10-30 years, had incomplete primary education and also did not perform work outside the home. The analysis identified three themes: access, team-user interaction and organization of work in the FHU. The subjects of this study expressed satisfaction with the accessibility provided together with the caring attention given to them, marked by a team-user interaction that takes place in a friendly and patience manner. Although not totally satisfied, the majority of users would recommend the health service to someone due to its quality.Este estudio exploratorio y descriptivo analizó la satisfacción del usuario en lo que se refiere a la atención recibida en una unidad de Salud de la Familia(USF) en Ribeirao Preto-SP, Brasil. Fueron entrevistados 40 usuarios de familias registradas por la USF, seleccionadas por informantes clave y muestreo por bola de nieve. El análisis temático de contenido se utilizó para analizar el material empírico. Los entrevistados son mayoritariamente mujeres, con más de 50 años, residentes en el área de alcance de la unidad, entre 10 y 30 años, tienen enseñanza primaria incompleta y no ejercían trabajo fuera del domicilio. El análisis identificó tres temas: acceso, interacción equipo-usuario y organización del trabajo en la USF. Los sujetos del estudio expresaron satisfacción con la accesibilidad desde que vinculada a la atención cuidadosa que recibían, marcada por una interacción equipo-usuario amigable y paciente. A pesar de que no están totalmente satisfechos, la mayoría de los usuarios indicaría este servicio por su calidad.Analisou-se satisfação do usuário quanto ao atendimento em uma Unidade de Saúde da Família (USF) em Ribeirão Preto, SP, Brasil. É um estudo exploratório descritivo. Foram entrevisados 40 usuários de famílias cadastradas pela USF, selecionados a partir de informantes chave e da técnica snowball para amostragem. Para análise do material empírico, utilizou-se análise de conteúdo na modalidade temática. Os entrevistados são majoritariamente mulheres, acima de 50 anos, residentes na área de abrangência da unidade, de 10-30 anos, possuíam ensino fundamental incompleto e também não exerciam trabalho fora do domicílio. A análise identificou três temas: acesso, interação equipe/usuário e organização do trabalho na USF. Os sujeitos deste estudo expressam satisfação com a acessibilidade desde que aliada à atenção cuidadosa que lhes é dispensada, marcada por interação equipe/usuário que se produz de forma amigável e pacienciosa. Embora não totalmente satisfeitos, a maioria dos usuários indicaria esse serviço de saúde a alguém, por sua qualidade

Sugar-lowering drugs for type 2 diabetes mellitus and metabolic syndrome - review of classical and new compounds: Part-I

Diabetes mellitus (DM) is a metabolic disorder characterized by chronic hyperglycemia together with disturbances in the metabolism of carbohydrates, proteins and fat, which in general results from an insulin availability and need imbalance. In a great number of patients, marketed anti-glycemic agents have shown poor effectiveness in maintaining a long-term glycemic control, thus being associated with severe adverse effects and leading to an emerging interest in natural compounds (e.g., essential oils and other secondary plant metabolites, namely, flavonoid-rich compounds) as a novel approach for prevention, management and/or treatment of either non-insulin-dependent diabetes mellitus (T2DM, type 2 DM) and/or Metabolic Syndrome (MS). In this review, some of these promising glucose-lowering agents will be comprehensively discussed.This work was financially supported by the Portuguese Science and Technology Foundation (FCT/MCT) and from European Funds (PRODER/COMPETE) under the project reference M-ERANET/0004/2015-PAIRED and UID/AGR/04033/2019 (CITAB), co-financed by FEDER, under the Partnership Agreement PT2020, and also by the Institute of Nanoscience and Nanotechnology under the project ART(2018).info:eu-repo/semantics/publishedVersio

Human Parechovirus and Enterovirus Initiate Divergent Innate Immune Responses in the CNS: Pathogenic and Diagnostic Implications

The picornaviruses human parechovirus (HPeV) and enterovirus (EV) cause a wide range of diseases, including CNS infections, which can be severe and potentially fatal. EV causes most cases of pediatric meningoencephalitis worldwide, and HPeV type 3 (HPeV3) is the most common cause of viral meningitis in young infants. Each year in the United States, there are over 75,000 cases of aseptic meningitis. Despite reassuring short-term outcomes, negative neurodevelopmental sequalae are increasingly associated with HPeV and EV. The pathogenesis and severity of HPeV and EV infections are undoubtedly linked to the innate and adaptive immune responses elicited by these viruses. Until this work, the innate immune response mounted against HPeV was largely unknown. Pattern recognition receptors in the CNS, including a number of Toll-like receptors located in different cells and subcellular compartments, detect invading pathogens and cause the release of cytokines and chemokines almost immediately into the CSF compartment at measurable levels. Essentially, this allows for determination of an amplified, infectious agent-specific pattern. These virus specific patterns of innate immune activation may provide insight into the pathogenesis of the corresponding disease states. Also, since these infections have similar clinical presentations, the immune profiles may be useful for rapid pathogen diagnosis in the clinical setting

A randomized controlled trial: branched‐chain amino acid levels and glucose metabolism in patients with obesity and sleep apnea

There is evidence that changes in branched‐chain amino acid (BCAA) levels may correlate with the efficacy of therapeutic interventions for affecting improvement in metabolic control. The objective of this study was to evaluate whether serum concentrations of BCAAs (leucine, isoleucine, valine) could mediate in insulin sensitivity and glucose tolerance after continuous positive airway pressure (CPAP) treatment in patients with obstructive sleep apnea (OSA). A prospective randomized controlled trial of OSA patients with morbid obesity was conducted. Eighty patients were randomized into two groups: 38 received conservative treatment and 42 received CPAP treatment for 12 weeks. Plasma levels of BCAA, glucose tolerance and insulin resistance were evaluated at baseline and after treatment. After treatment, significant decreases of leucine levels were observed in both groups when compared with baseline levels (P < 0.005). With respect to patients with normal glucose tolerance (NGT), patients with impaired glucose tolerance (IGT) had higher baseline levels of isoleucine (78 ± 16 versus 70 ± 13 μmol L−1, P = 0.014) and valine (286 ± 36 versus 268 ± 41 μmol L−1, P = 0.049), respectively. Changes in levels of leucine and isoleucine after treatment were related negatively to changes in fasting plasma glucose and glycosylated haemoglobin values only in the conservative group (P < 0.05). In summary, we found that the treatment with CPAP for 12 weeks caused similar changes in circulating BCAAs concentrations to conservative treatment and a differential metabolic response of CPAP and conservative treatment was observed between the relationship of BCAAs and glucose homeostasis. Additional studies are needed to determine the interplay between branched‐chain amino acids and glucose metabolism in patients with sleep apnea