Recomendações para transição de cuidados pediátricos para medicina de adultos em adolescentes com Diabetes Mellitus tipo 1

Introdução. A transição de cuidados começou a ser discutida em 1989 no âmbito da United States Surgeon General Conference. Designa-se por transição o processo ativo, gradual e multidisciplinar que aborda as necessidades médicas, psicossociais e educativas do adolescente e cujo objetivo é promover a sua autonomia e adaptação à Medicina de Adultos. A transferência dos pacientes pediátricos com Diabetes mellitus tipo 1 para as unidades de Medicina de Adultos pode ter efeitos nefastos para a saúde dos pacientes se a transição for conduzida de forma inadequada. Esta mudança ocorre durante a adolescência, período crítico no controlo metabólico pelos fatores psicológicos e fisiológicos que entram em jogo, condicionando um risco aumentado de complicações crónicas e de admissões hospitalares relacionadas com a Diabetes mellitus tipo 1. A mudança da equipa assistencial está também associada com maior perda de seguimento e com pior controlo metabólico destes pacientes. O desenvolvimento de um programa de transição pode ultrapassar muitos dos problemas que surgem na transição entre dois tipos de sistemas de cuidados distintos. Objetivos. A presente dissertação pretende realizar uma revisão das publicações sobre transição de cuidados pediátricos para Medicina de Adultos em adolescentes com Diabetes mellitus tipo 1. Numa primeira parte são reunidas as recomendações existentes; posteriormente serão analisados as publicações com avaliação dos resultados de programas de transição específicos. Por fim é proposto um modelo de transição de cuidados, elaborado mediante a investigação efetuada. Métodos. Para a elaboração desta monografia foi realizada uma pesquisa na base de dados PubMed, complementada pela consulta de documentos de Sociedades Científicas Internacionais sobre transição de cuidados em adolescentes com Diabetes mellitus tipo 1. Resultados. Constatou-se que, embora existam recomendações clínicas para o processo de transição em adolescentes com Diabetes mellitus tipo 1, são limitadas as práticas baseadas em evidência publicadas. Os programas de transição presentes na literatura representam iniciativas de cada unidade de cuidados e não protocolos estruturados das autoridades locais ou regionais de saúde. Poucos estudos avaliaram, de forma sistemática, a eficácia dos programas de transição implementados. Em Portugal não existem quaisquer orientações que rejam o cuidado transicional destes jovens. Conclusões. Os programas de transição analisados, apesar das disparidades metodológicas, registaram melhorias no controlo metabólico e nas presenças em consultas na Medicina de Adultos bem como redução na taxa de complicações agudas. É proposto um modelo de transição de cuidados para adolescentes com Diabetes mellitus tipo 1.Introduction. The transition in health care was first discussed in 1989 at the Unites States Surgeon General Conference. Transition is the active, gradual and multidisciplinary process that comprises the medical, psychosocial and educational needs of the adolescent, aiming to promote his autonomy and adjustment to the Adult Health Care Service. The transfer of paediatric patients with type 1 Diabetes mellitus to adult health care may have adverse health outcomes if transition is not done properly. This change takes place during adolescence which is a critical stage for metabolic control due to both psychological and physiological aspects, therefore increasing the risk of chronic complications and hospitalisations related do type 1 Diabetes mellitus. The change of the care team is also associated with greater loss to follow-up and poor metabolic control in these patients. The development of a transition programme can overcome many of the problems that arise from the transition between two different types of care system. Objectives. This dissertation intends to review the publications relating to the transition of adolescents with type 1 Diabetes mellitus from the paediatric to the adult health care service. After assembling the existing recommendations, the publications that assess specific transition programmes and their outcomes will be examined and a transition model will be proposed based on the findings. Methods. A search of the literature was performed with PubMed with additional research on Scientific Societies’ documents concerning the transition of care in adolescents with type 1 Diabetes mellitus. Results. Although clinical recommendations for the transition process of adolescents with type 1 Diabetes mellitus exist, published evidence-based practices are limited. The transition programmes found in the literature are initiatives of each care unit instead of structured protocols from local or regional health authorities. Few studies have evaluated, systematically, the effectiveness of the transition programmes carried out. In Portugal there aren’t any guidelines concerning the transitional care of these youths. Conclusions. In spite of different methodologies, the transition programmes examined showed improvements of the metabolic control and clinical attendance at the Adult Service and decrease of the acute complications rate. A transition model for adolescents with type 1 Diabetes mellitus is proposed

Graves’ disease with spontaneous resolution following ocrelizumab in primary progressive multiple sclerosis

Objectives. Immune reconstitution therapies (IRT), which include antibody-based cell-depleting therapies targeting CD52+ (alemtuzumab) or CD20+ (rituximab, ocrelizumab) leukocytes, are approved for the treatment of multiple sclerosis. Thyroid autoimmunity is a common adverse effect of alemtuzumab treatment, Graves' disease (GD) being the most prevalent manifestation. To date, thyroid autoimmunity events have not been reported with CD20-targeting monoclonal antibodies. Case Report. A 59-year-old woman with primary progressive multiple sclerosis with no prior personal history of thyroid disease or autoimmunity, was diagnosed with GD 6 months following the first ocrelizumab infusion. She was asymptomatic and had no signs of ophthalmopathy. Due to the temporal association of GD diagnosis with ocrelizumab infusion, absence of symptoms and our experience with alemtuzumab-induced GD, we decided for an active surveillance strategy and antithyroid drugs were not started. She underwent spontaneous resolution of hyperthyroidism with thyroid-stimulating hormone (TSH) receptor antibodies (TRAb) negativity and a mild and transitory period of subclinical hypothyroidism, while she continued the biannually ocrelizumab administration schedule. To present date, she has maintained close clinical and biochemical surveillance with normal TSH, free thyroxine (fT4) and free triiodothyronine (fT3) levels and undetectable TRAb. Conclusions. This is the first case of GD reported after ocrelizumab administration. The timing, onset and course of this case is similar to alemtuzumab-induced GD, usually interpreted as an "immune reconstitution syndrome"; however, ocrelizumab cell count depletion is inferior in severity, cell population affected and duration of depletion. This case highlights the importance of pre-screening and follow-up with thyroid function tests in patients treated with ocrelizumab. As a novel therapeutic antibody, further investigation is required to unravel the causes of thyroid autoimmunity.info:eu-repo/semantics/publishedVersio

Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant

Introduction: Pheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia. Recent studies have indicated that up to 40% of pheochromocytomas could be attributable to an inherited germline variant in an increasing list of susceptibility genes. Germline variants of the MYC-associated factor (MAX) gene have been associated with familial pheochromocytomas and paragangliomas with an autosomal dominant pattern of inheritance, a median age at onset of 33 years and an overall frequency estimated at 1.9%. We describe a deleterious MAX variant associated with hereditary pheochromocytoma in a family with four affected individuals. Case presentation: The first patient presented with bilateral pheochromocytoma in 1995; genetic testing was proposed to his oldest son, when he was diagnosed with a bilateral pheochromocytoma with a synchronous neuroblastoma. Upon the identification of the MAX variant c.97C>T, p.(Arg33Ter), in the latter individual, his two siblings and their father were tested and the same variant was identified in all of them. Both siblings were subsequently diagnosed with pheochromocytoma (one of them bilateral) and choose to remain on active surveillance before they were submitted to adrenalectomy. All the tumours secreted predominantly norepinephrine, accordingly to the typical biochemical phenotype ascribed to variants in the MAX gene. Conclusion: This case series is, to our knowledge, the one with the largest number of individuals with hereditary pheochromocytoma with a deleterious MAX variant in the same family. It is also the first case with a synchronous pheochromocytoma and neuroblastoma in carriers of a MAX deleterious variant. This report draws attention to some ill-defined features of pheochromocytoma and other malignancies associated with a MAX variant and highlights the importance of understanding the genotype-phenotype correlation in hereditary pheochromocytoma and the impact of oriented genetic testing to detect, survey and treat patients and kindreds at risk.N/

Viral genetic clustering and transmission dynamics of the 2022 mpox outbreak in Portugal

Pathogen genome sequencing during epidemics enhances our ability to identify and understand suspected clusters and investigate their relationships. Here, we combine genomic and epidemiological data of the 2022 mpox outbreak to better understand early viral spread, diversification and transmission dynamics. By sequencing 52% of the confirmed cases in Portugal, we identified the mpox virus sublineages with the highest impact on case numbers and fitted them into a global context, finding evidence that several international sublineages probably emerged or spread early in Portugal. We estimated a 62% infection reporting rate and that 1.3% of the population of men who have sex with men in Portugal were infected. We infer the critical role played by sexual networks and superspreader gatherings, such as sauna attendance, in the dissemination of mpox virus. Overall, our findings highlight genomic epidemiology as a tool for the real-time monitoring and control of mpox epidemics, and can guide future vaccine policy in a highly susceptible population.info:eu-repo/semantics/publishedVersio

Contracepção hormonal e lesões cervicais pelo Papilomavírus Humano: uma revisão de literatura / Hormonal contraception and cervical injuries by Human Papillomavirus: a literature review

Introdução: A infecção pelo papilomavírus humano (HPV) é a doença sexualmente transmissível (DST) mais comum, afetando 50% da população mundial. Estima-se que entre 75 e 80% da de indivíduos sexualmente ativos adquirirão algum subtipo de HPV ao longo da vida. No Brasil, a taxa de prevalência de HPV varia de 13,7 a 54,3%, de acordo com a população e as regiões estudadas. Assim, este artigo tem como objetivo analisar a associação entre os hormônios contracepção e o aparecimento de lesões induzidas por HPV em o colo uterino. Metodologia: O presente estudo foi elaborado por meio de uma pesquisa bibliográfica, realizada eletronicamente, procurando registros sobre o desenvolvimento de lesões induzidas por HPV em colo uterino e hormônios de contracepção. Objetivando com isso identificar através da literatura a associação entre os hormônios de contracepção e o aparecimento de lesões induzidas por HPV em colo uterino. Para a realização do mesmo foram analisados artigos publicados em revistas científicas, utilizando as bases de dados da BVS (Biblioteca Virtual da Saúde), como: Lilacs (Literatura Latino-Americana e do Caribe em Ciências da Saúde) e Scielo (Scientific Electronic Library Online). Resultados: Após a seleção, restaram nove artigos para a discussão. Podemos observar os artigos escolhidos no quadro, composto pelos autores, título, metodologia, resultados e conclusão que cada um encontrou. Em seguida foi realizada uma discussão acerca destes artigos. Conclusão: Muitos estudos relataram que os mecanismos envolvidos na persistência e incidência de lesões de HPV estão longe de ser esclarecidas, e que novas estudos são necessários para elucidar melhores abordagens em relação ao tipo de contracepção, via de administração e doses hormonal que não estão associadas a lesões induzidas por HPV

MAMMALS IN PORTUGAL : A data set of terrestrial, volant, and marine mammal occurrences in P ortugal

Mammals are threatened worldwide, with 26% of all species being includedin the IUCN threatened categories. This overall pattern is primarily associatedwith habitat loss or degradation, and human persecution for terrestrial mam-mals, and pollution, open net fishing, climate change, and prey depletion formarine mammals. Mammals play a key role in maintaining ecosystems func-tionality and resilience, and therefore information on their distribution is cru-cial to delineate and support conservation actions. MAMMALS INPORTUGAL is a publicly available data set compiling unpublishedgeoreferenced occurrence records of 92 terrestrial, volant, and marine mam-mals in mainland Portugal and archipelagos of the Azores and Madeira thatincludes 105,026 data entries between 1873 and 2021 (72% of the data occur-ring in 2000 and 2021). The methods used to collect the data were: live obser-vations/captures (43%), sign surveys (35%), camera trapping (16%),bioacoustics surveys (4%) and radiotracking, and inquiries that represent lessthan 1% of the records. The data set includes 13 types of records: (1) burrowsjsoil moundsjtunnel, (2) capture, (3) colony, (4) dead animaljhairjskullsjjaws, (5) genetic confirmation, (6) inquiries, (7) observation of live animal (8),observation in shelters, (9) photo trappingjvideo, (10) predators dietjpelletsjpine cones/nuts, (11) scatjtrackjditch, (12) telemetry and (13) vocalizationjecholocation. The spatial uncertainty of most records ranges between 0 and100 m (76%). Rodentia (n=31,573) has the highest number of records followedby Chiroptera (n=18,857), Carnivora (n=18,594), Lagomorpha (n=17,496),Cetartiodactyla (n=11,568) and Eulipotyphla (n=7008). The data setincludes records of species classified by the IUCN as threatened(e.g.,Oryctolagus cuniculus[n=12,159],Monachus monachus[n=1,512],andLynx pardinus[n=197]). We believe that this data set may stimulate thepublication of other European countries data sets that would certainly contrib-ute to ecology and conservation-related research, and therefore assisting onthe development of more accurate and tailored conservation managementstrategies for each species. There are no copyright restrictions; please cite thisdata paper when the data are used in publications.info:eu-repo/semantics/publishedVersio

SARS-CoV-2 introductions and early dynamics of the epidemic in Portugal

Genomic surveillance of SARS-CoV-2 in Portugal was rapidly implemented by the National Institute of Health in the early stages of the COVID-19 epidemic, in collaboration with more than 50 laboratories distributed nationwide. Methods By applying recent phylodynamic models that allow integration of individual-based travel history, we reconstructed and characterized the spatio-temporal dynamics of SARSCoV-2 introductions and early dissemination in Portugal. Results We detected at least 277 independent SARS-CoV-2 introductions, mostly from European countries (namely the United Kingdom, Spain, France, Italy, and Switzerland), which were consistent with the countries with the highest connectivity with Portugal. Although most introductions were estimated to have occurred during early March 2020, it is likely that SARS-CoV-2 was silently circulating in Portugal throughout February, before the first cases were confirmed. Conclusions Here we conclude that the earlier implementation of measures could have minimized the number of introductions and subsequent virus expansion in Portugal. This study lays the foundation for genomic epidemiology of SARS-CoV-2 in Portugal, and highlights the need for systematic and geographically-representative genomic surveillance.We gratefully acknowledge to Sara Hill and Nuno Faria (University of Oxford) and Joshua Quick and Nick Loman (University of Birmingham) for kindly providing us with the initial sets of Artic Network primers for NGS; Rafael Mamede (MRamirez team, IMM, Lisbon) for developing and sharing a bioinformatics script for sequence curation (https://github.com/rfm-targa/BioinfUtils); Philippe Lemey (KU Leuven) for providing guidance on the implementation of the phylodynamic models; Joshua L. Cherry (National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health) for providing guidance with the subsampling strategies; and all authors, originating and submitting laboratories who have contributed genome data on GISAID (https://www.gisaid.org/) on which part of this research is based. The opinions expressed in this article are those of the authors and do not reflect the view of the National Institutes of Health, the Department of Health and Human Services, or the United States government. This study is co-funded by Fundação para a Ciência e Tecnologia and Agência de Investigação Clínica e Inovação Biomédica (234_596874175) on behalf of the Research 4 COVID-19 call. Some infrastructural resources used in this study come from the GenomePT project (POCI-01-0145-FEDER-022184), supported by COMPETE 2020 - Operational Programme for Competitiveness and Internationalisation (POCI), Lisboa Portugal Regional Operational Programme (Lisboa2020), Algarve Portugal Regional Operational Programme (CRESC Algarve2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF), and by Fundação para a Ciência e a Tecnologia (FCT).info:eu-repo/semantics/publishedVersio

Drug-induced anaphylaxis, elicitors, risk factors, and management in Latin America

Nonsteroidal anti-inflammatory drugs were the most frequent triggers of drug-induced anaphylaxis in Latín America, whereas antibiotics elicited faster onset and more scvere reactions. An improvement was observed in epinephrinc use and adherence to guidelines in the emergency department treatment of anaphylaxis in Latín America compared with our last report.Facultad de Ciencias Médica

Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020

We show the distribution of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three genomic nomenclature systems to all sequence data from the World Health Organization European Region available until 10 July 2020. We highlight the importance of real-time sequencing and data dissemination in a pandemic situation, compare the nomenclatures and lay a foundation for future European genomic surveillance of SARS-CoV-2

Treatment with tocilizumab or corticosteroids for COVID-19 patients with hyperinflammatory state: a multicentre cohort study (SAM-COVID-19)

Objectives: The objective of this study was to estimate the association between tocilizumab or corticosteroids and the risk of intubation or death in patients with coronavirus disease 19 (COVID-19) with a hyperinflammatory state according to clinical and laboratory parameters. Methods: A cohort study was performed in 60 Spanish hospitals including 778 patients with COVID-19 and clinical and laboratory data indicative of a hyperinflammatory state. Treatment was mainly with tocilizumab, an intermediate-high dose of corticosteroids (IHDC), a pulse dose of corticosteroids (PDC), combination therapy, or no treatment. Primary outcome was intubation or death; follow-up was 21 days. Propensity score-adjusted estimations using Cox regression (logistic regression if needed) were calculated. Propensity scores were used as confounders, matching variables and for the inverse probability of treatment weights (IPTWs). Results: In all, 88, 117, 78 and 151 patients treated with tocilizumab, IHDC, PDC, and combination therapy, respectively, were compared with 344 untreated patients. The primary endpoint occurred in 10 (11.4%), 27 (23.1%), 12 (15.4%), 40 (25.6%) and 69 (21.1%), respectively. The IPTW-based hazard ratios (odds ratio for combination therapy) for the primary endpoint were 0.32 (95%CI 0.22-0.47; p < 0.001) for tocilizumab, 0.82 (0.71-1.30; p 0.82) for IHDC, 0.61 (0.43-0.86; p 0.006) for PDC, and 1.17 (0.86-1.58; p 0.30) for combination therapy. Other applications of the propensity score provided similar results, but were not significant for PDC. Tocilizumab was also associated with lower hazard of death alone in IPTW analysis (0.07; 0.02-0.17; p < 0.001). Conclusions: Tocilizumab might be useful in COVID-19 patients with a hyperinflammatory state and should be prioritized for randomized trials in this situatio