The Value of Multidisciplinary Care in Parkinson\u27s Disease

Educational Objectives 1. To recognize the signs and symptoms of Parkinson\u27s disease (PD). 2. To identify key treatment and management strategies for PD. 3. To discuss the importance of multidisciplinary care and the need for individualized treatment of PD

Copy number variations of the mitochondrial DNA as potential cause of mitochondrial diseases

Aim: The aim of this thesis was the analysis of copy number variations of the mitochondrial DNA (mtDNA) in several tissues and cell types with regard to different mitochondrial associated disorders. Background: The mtDNA copy number can be reduced due to mutations in the nuclear encoded DNA polymerase gamma (POLG) or damages caused by deleterious reactive oxygen species (ROS), which are created by the respiratory chain. This leads to the insufficient expression of mitochondrial encoded subunits of complexes of the oxidative phosphorylation system (OXPHOS). Consequently an impairment of the biochemical activity and integrity of the cells occurs. Methods: The quantification of the mtDNA was performed by quantitative PCR (qPCR). Biochemical activities were determined by enzymatic assays such as direct measurement of the citrate synthase (CS) activity or comprehensive measurement of the respiratory activity. Results: Mutations in the nuclear inherited gene POLG result in mtDNA depletion in mitochondrial disorders including a mild phenotype of progressive external ophthalmoplegia (PEO) with epilepsy/ataxia. A mtDNA depletion was detected in different tissues and cell types of Alpers-Huttenlocher patients with pathogenic nuclear mutations. The mtDNA copy number was reduced in specific hippocampal regions of temporal lobe epilepsy (TLE) patients with Ammons’ horn sclerosis (AHS) accompanied by a decreased CS activity. An in vitro reduction of the mtDNA in fibroblasts results in an impaired respiratory activity. Conclusions: The mtDNA content is proportional to the mitochondria content and the energy demand of the respective tissue or cell type under normal conditions. A cell type- and tissue-specific depletion of the mtDNA can be present in several inherited and somatic mitochondrial disorders in vivo or can be generated by an in vitro system. The mtDNA depletion diminishes the biochemical activity and integrity of the cells and can contribute to the disease phenotype

Maternal risks associated with pregnancy in women with advanced maternal age

Introduction: The trend towards delayed motherhood has accelerated in developed countries over the last few decades. Advanced maternal age (AMA) is defined as age 35 years and older at the estimated date of delivery. Objective: The aim of this large retrospective cohort study is to assess for the association between AMA and adverse maternal outcomes after adjustment for confounding factors in maternal characteristics and in the obstetric history. Study Design: Mothers of 20 years and older, who delivered singleton babies in Malta and Gozo between 1st January 2000 and 31st December 2014 were studied. All data was derived from the National Obstetric Information System. Results: The study population included 55,943 singleton births. 12.2% (6,838) of mothers were between 35 – 39 years and 2.4% (1,325) were 40 years and older. Significant difference was found between maternal age and BMI (p < 0.0001), maternal smoking status (p < 0.0001), non-insulin dependent diabetes mellitus (p = 0.004), history of stillbirth (p < 0.0001), gestational diabetes (p < 0.0001), pregnancy – induced – hypertension (p = 0.008) and pre-eclampsia (p = 0.008). Significant difference was also found between maternal age and mode of delivery (p < 0.0001). Regression analysis revealed persistent significant differences between maternal age and different maternal outcomes. Conclusion: This study demonstrates that AMA in Malta significantly increases the risk for hypertension in pregnancy, gestational diabetes and caesarean delivery. Care providers need to be aware of these increased risks and adjust their obstetric management according to the individual to ensure optimal maternal outcomes.peer-reviewe

Prevention of birth defects

Folate is essential for normal cell division and as intrauterine fetal growth involves a process of rapidly dividing cells, there is a consequent increased requirement for folate at this time. Folate, and the synthetic form folic acid, is thus vital for the early development process of a healthy fetus and there is indisputable evidence that it can significantly reduce the risk of neural tube defects (NTDs). Further ongoing research suggests that folic acid supplementation in pregnancy is also associated with a decreased risk of other birth defects. This review gives an overview of the current literature related to the use of folic acid in the peri-conceptional period and prevention of birth defects, in particular NTDs.peer-reviewe

Efeito da curcumina na cicatrização de feridas: implicações para a educação em saúde no SUS

Chronic wounds represent a burden for the Unified Health System, and curcumin emerges as a cost-effective option in their treatment. The objective of the study is to analyze the evidence for the use of curcumin, alone or in combination with other medicinal active ingredients or biophysical agents in the healing of chronic wounds in adults. This is a narrative review from April to September 2023, employing structured search strategies based on PICO and MeSH Terms related to "curcumin," "chronic wounds," and "wound healing." Studies without restrictions on the year of publication were included, with participants over 18 years of age and with chronic wounds. Studies in Portuguese, Spanish or English were included. Of the 525 articles identified, six met the inclusion criteria. The study highlights promising results of curcumin in the healing of chronic wounds, especially in diabetic patients. However, the need for more clinical studies on the subject is highlighted.Introducción: Las heridas crónicas representan una carga para el Sistema Único de Salud, y la curcumina surge como una opción costo-efectiva en su tratamiento. Objetivo: Analizar la evidencia sobre el uso de la curcumina, sola o en combinación con otros principios activos medicinales o agentes biofísicos, en la curación de heridas crónicas en adultos. Metodología: Esta es una revisión narrativa de abril a septiembre de 2023, que emplea estrategias de búsqueda estructuradas basadas en términos PICO y MeSH relacionados con "curcumina", "heridas crónicas" y "cicatrización de heridas". Se incluyeron estudios sin restricción de año de publicación, con participantes mayores de 18 años y con heridas crónicas. Se incluyeron estudios en portugués, español o inglés. Resultados: De los 523 artículos identificados, seis cumplieron los criterios de inclusión. Consideraciones finales: El estudio destaca resultados prometedores de la curcumina en la curación de heridas crónicas, especialmente en diabéticos. Sin embargo, se destaca la necesidad de realizar más estudios clínicos sobre el tema.Feridas crônicas representam um ônus para o Sistema Único de Saúde, e a curcumina emerge como uma opção custo-efetiva no seu tratamento. O objetivo do estudo é analisar as evidências do uso da curcumina, isoladamente ou em combinação com outros ativos medicinais ou agentes biofísicos na cicatrização de feridas crônicas em adultos. Trata-se de uma revisão narrativa de abril a setembro de 2023, empregando estratégias de busca estruturada baseadas em PICO e MeSH Terms relacionados à "curcumin," "chronic wounds," e "wound healing". Foram incluídos estudos sem restrição de ano de publicação, com participantes com idade superior a 18 anos e que apresentassem feridas crônicas. Foram incluídos estudos em português, espanhol ou inglês. Dos 525 artigos identificados, seis atenderam aos critérios de inclusão. O estudo destaca resultados promissores da curcumina na cicatrização de feridas crônicas, principalmente em pacientes diabéticos. Contudo, ressalta-se a necessidade de mais estudos clínicos sobre a temática

Inovações e tecnologias para a prevenção da úlcera por pressão em calcâneo

Justificativa e objetivos: Diversos dispositivos de prevenção para úlcera por pressão têm surgido no mercado atual, no entanto, muitos destes não atendem as diretrizes de prevenção e podem contribuir para o aumento do risco de desenvolvimento da úlcera. O objetivo deste estudo foi realizar uma revisão da literatura sobre as principais inovações e tecnologias desenvolvidas nos últimos dez anos para a prevenção da úlcera por pressão, abrangendo a região do calcâneo. Conteúdo: A pesquisa da literatura caracterizou-se por busca de artigos no meio on-line publicados no período de janeiro de 2006 a fevereiro de 2016, e disponíveis nos idiomas português, inglês e espanhol. A procura dos artigos foi realizada nas bases de dados do SciELO, IBECS, MEDLINE, LILACS e PubMed, por meio dos seguintes descritores combinados: pressure ulcer AND prevention and control OR pressure ulcer AND calcaneus OR pressure ulcer AND inventions OR pressure ulcer AND equipment and hospital supplies OR pressure ulcer AND diffusion of innovation. Foram identificados 2.145 artigos, e, após a leitura dos títulos e resumos, 14 se adequavam aos critérios de inclusão e compuseram a leitura para esta revisão. Conclusão: Verificou-se que as inovações e tecnologias desenvolvidas nos últimos dez anos são úteis e podem ser incorporadas em protocolos de prevenção global da úlcera por pressão. Contudo, inovações e tecnologias específicas para a prevenção da úlcera por pressão na região do calcâneo são escassas. Sugere-se o desenvolvimento de dispositivo de prevenção da úlcera por pressão para a região do calcâneo, baseado em evidências científicas

Innovations and technologies for the prevention of pressure ulcers in the calcaneus

Background and Objectives: Several prevention devices for pressure ulcers have emerged in the market recently; however, many do not meet the prevention guidelines and can contribute to increase the risk of developing ulcers. The objective of the present study was to carry out a literature review on the main innovations and technologies developed in the past ten years to prevent calcaneal pressure ulcer. Contents: The literature survey consisted of searching for papers published from January 2006 to February 2016 in Portuguese, English and Spanish. The consulted databases were SciELO, IBECS, MEDLINE, LILACS and PubMed, by combining descriptors and Boolean operators as follows: pressure ulcer AND prevention AND control OR pressure ulcer AND calcaneus OR pressure ulcer AND inventions OR pressure ulcer AND equipment AND hospital supplies OR pressure ulcer AND diffusion of innovation. The search resulted in 2,145 papers, and reading of title and abstracts allowed the selection of 14 publications that met the inclusion criteria and were included in the sample of this review. Conclusions: Innovations and technologies developed in the past ten years are useful and can be incorporated in global prevention protocols for pressure ulcers. Nevertheless, innovations and technologies for prevention of calcaneal pressure ulcers are sparse. The authors suggest the development of specific devices for prevention of calcaneal pressure ulcers based on scientific evidence. Descriptors: Pressure ulcers. Inventions. Hospital supplies and equipment. Diffusion of innovation

Dificuldades na consulta clínica e nutricional de surdos no Brasil: revisão de literatura

The objective of the study was to conduct a literature review on the deaf and the difficulties faced in consultation with health professionals, especially the nutritionist in Brazil. This is a literature review. A search was carried out in SciELO and Google Scholar databases. The descriptors used were "Libras", "deaf", "health" and "nutrition". Studies in the Portuguese language were selected. The legislation in force in the country related to the hearing impaired and the Code of Ethics and Conduct of Nutritionists were also consulted. The research showed that studies related to the theme are few and refer to the same problem: the difficulty in communication between the hearing impaired person and the health professional, focusing on the nutritionist. The inclusion of the Libras discipline in the undergraduate curriculum, and the participation of the State as a provider of interpreters and training for health professionals, can contribute to the proper care of the deaf.  El objetivo del estudio fue realizar una revisión de la literatura sobre la persona sorda y las dificultades enfrentadas en la consulta con profesionales de la salud, principalmente el nutricionista en Brasil. Esta es una revisión de la literatura. Se realizó una búsqueda en las bases de datos SciELO y Google Scholar. Los descriptores utilizados fueron "Libras", "sordos", "salud" y "nutrición". Se seleccionaron estudios en portugués. También se consultó la legislación vigente en el país relacionada con las personas con discapacidad auditiva y el Código de Ética y Conducta de Nutricionistas. La investigación mostró que hay pocos estudios relacionados con el tema y se refieren al mismo problema: la dificultad en la comunicación entre la persona sorda y el profesional de la salud, centrándose en el nutricionista. La inclusión de la disciplina de Libra en el plan de estudios de pregrado y la participación del Estado como proveedor de intérpretes y capacitación de profesionales de la salud pueden contribuir a la atención adecuada de los sordos.  O objetivo do estudo foi realizar uma revisão da literatura sobre a pessoa surda e as dificuldades enfrentadas na consulta com profissionais da saúde, principalmente o nutricionista no Brasil. Trata-se de uma revisão de literatura. Foi realizada busca em bases de dados do SciELO e Google Acadêmico. Os descritores utilizados foram “Libras”, “surdos”, “saúde” e “nutrição”. Foram selecionados estudos no idioma português. Também foi consultada a legislação vigente no país relacionada ao deficiente auditivo e o Código de Ética e de Conduta do Nutricionista. A pesquisa mostrou que os estudos relacionados com o tema são poucos e remetem a mesma problemática: a dificuldade na comunicação entre o portador de surdez e o profissional de saúde, com foco no nutricionista. A inclusão da disciplina de Libras na grade curricular da graduação, e a participação do Estado como provedor de intérpretes e capacitação de profissionais da saúde pode contribuir no atendimento adequado ao surdo.

Cathepsin S is the major activator of the psoriasis-associated proinflammatory cytokine IL-36γ

The pro-inflammatory cytokine IL-36γ is highly expressed in epithelial cells and is a pivotal mediator of epithelial inflammation. In particular, IL-36γ is strongly associated with the inflammatory skin disease psoriasis. As with other IL-1 cytokines, IL-36γ is expressed as an inactive precursor and must be processed by specific proteases to become bioactive. Our aim therefore was to identify protease/s capable of IL-36γ activation and explore the importance of this activation in psoriasis. Using a keratinocyte-based activity assay in conjunction with small-molecule inhibitors and siRNA gene silencing, cathepsin S was identified as the major IL-36γ-activating protease expressed by epithelial cells. Interestingly, cathepsin S activity was strongly upregulated in samples extracted from psoriasis patients, relative to healthy controls. In addition, IL-36γ-Ser18, identified as the main product of cathepsin S-dependent IL-36γ cleavage, induced psoriasiform changes in human skin-equivalent models. Together, these data provide important mechanistic insights into the activation of IL-36γ, and highlight that cathepsin S-mediated activation of IL-36γ may be important in the development of numerous IL-36γ driven pathologies, in addition to psoriasis

Empathy matters: ERP evidence for inter-individual differences in social language processing

When an adult claims he cannot sleep without his teddy bear, people tend to react surprised. Language interpretation is, thus, influenced by social context, such as who the speaker is. The present study reveals inter-individual differences in brain reactivity to social aspects of language. Whereas women showed brain reactivity when stereotype-based inferences about a speaker conflicted with the content of the message, men did not. This sex difference in social information processing can be explained by a specific cognitive trait, one’s ability to empathize. Individuals who empathize to a greater degree revealed larger N400 effects (as well as a larger increase in γ-band power) to socially relevant information. These results indicate that individuals with high-empathizing skills are able to rapidly integrate information about the speaker with the content of the message, as they make use of voice-based inferences about the speaker to process language in a top-down manner. Alternatively, individuals with lower empathizing skills did not use information about social stereotypes in implicit sentence comprehension, but rather took a more bottom-up approach to the processing of these social pragmatic sentences