Consulta Multidisciplinar de Doenças Neurocutâneas: Experiência de Cinco Anos num Hospital Pediátrico Terciário em Portugal

Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. Methods: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC. Results: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors. Conclusion: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.info:eu-repo/semantics/publishedVersio

Doença Atópica do Compartimento Central

Objetivos: Sistematizar a evidência científica existente em relação à patologia “Doença Atópica do Compartimento Central” (DACC). Desenho do Estudo: Revisão Bibliográfica Sistemática. Material e Métodos: Realização de uma revisão bibliográfica sistemática nas bases de dados MEDLINE, Cochrane Central Register of Controlled Trials e Cumulative Index to Nursing and Allied Health Literature, baseada no modelo PRISMA (Preferred Reporting Items for Systematic Reviews and MetaAnalyses), selecionando trabalhos publicados entre janeiro de 2010 e dezembro de 2022. Resultados: Dos 3114 estudos inicialmente encontrados, foram selecionados para análise na integra um total de 13 artigos. Mais de metade dos artigos (69.2%) foram publicados a partir do ano de 2019, inclusive. Um total de 1780 doentes com RSC foi analisado. Destes, o número de doentes com DACC foi 372 (20.9%), com um rácio masculino: feminino de 2.16. Identificaram-se como comorbilidades a rinite alérgica (98,5%), a asma (25.2%) e o tabagismo (8.2%). Conclusões: DACC representa uma variante de RSC descrita pela primeira vez em 2017. Está associada à exposição a alergénios inalatórios e com repercussões edematosas e polipóides nos cornetos médios e superiores, bem como na região postero-superior do septo nasal. A base da gestão desta patologia é o tratamento médico da alergia, complementado, se necessário, com cirurgia endoscópica nasossinusal.info:eu-repo/semantics/publishedVersio

OPTImized Coronary Interventions EXplaIn the BEst CliNical OutcomEs (OPTI-XIENCE) Study. Rationale and Study Design

Introduction: Clinical events may occur after percutaneous coronary intervention (PCI), particularly in complex lesions and complex patients. The optimization of PCI result, using pressure guidewire and intracoronary imaging techniques, may reduce the risk of these events. The hypothesis of the present study is that the clinical outcome of patients with indication of PCI and coronary stent implantation that are at high risk of events can be improved with an unrestricted use of intracoronary tools that allow PCI optimization. Methods and analysis: Observational prospective multicenter international study, with a follow-up of 12 months, including 1064 patients treated with a cobalt‑chromium everolimus-eluting stent. Inclusion criteria include any of the following: Lesion length > 28 mm; Reference vessel diameter 4.25 mm; Chronic total occlusion; Bifurcation with side branch ≥2.0 mm;Ostial lesion; Left main lesion; In-stent restenosis; >2 lesions stented in the same vessel; Treatment of >2 vessels; Acute myocardial infarction; Renal insufficiency; Left ventricular ejection fraction <30 %; Staged procedure. The control group will be comprised by a similar number of matched patients included in the "extended risk" cohort of the XIENCE V USA study. The primary endpoint will be the 1-year rate of target lesion failure (TLF) (composite of ischemia-driven TLR, myocardial infarction (MI) related to the target vessel, or cardiac death related to the target vessel). Secondary endpoints will include overall mortality, cardiovascular mortality, acute myocardial infarction, TVR, TLR, target vessel failure, and definitive or probable stent thrombosis at 1 year. Implications: The ongoing OPTI-XIENCE study will contribute to the growing evidence supporting the use of intra-coronary imaging techniques for stent optimization in patients with complex coronary lesions.info:eu-repo/semantics/publishedVersio

Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein–Barr Virus Infection

Autoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent with cold AIHA plus concomitant HLH. The patient was treated with corticosteroids and acyclovir, with an uneventful recovery. Although rare, cold agglutinin syndrome and HLH can complicate infectious mononucleosis and should be considered in a patient with clinical deterioration. Corticosteroids are the mainstay treatment of HLH and may be beneficial in infection-associated cold agglutinin syndrome.info:eu-repo/semantics/publishedVersio

Adenocarcinoma do pulmão: importância diagnóstica da ecocardiografia

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The European Portuguese Version of the Brief Negative Symptom Scale

Negative symptoms reflect a currently much-untreated loss of normal functioning and are frequently found in psychotic disorders. We present the first translation of the Brief Negative Symptom Scale (BNSS) to European Portuguese and evaluate its validity in a sample of Portuguese male patients with a psychotic spectrum disorder. The Portuguese BNSS showed excellent internal consistency, high convergent validity (i.e., strong correlation with the PANSS negative factor), and high discriminant validity (i.e., a lack of association with the PANSS positive factor). In sum, the present European Portuguese BNSS has shown to be reliable, thus extending this instrument's clinical availability worldwide.info:eu-repo/semantics/publishedVersio

Guidelines for the Diagnosis and Treatment of Uncomplicated (NonLymphogranuloma Venereum) Chlamydia trachomatis Infection in Portugal

Chlamydia trachomatis infection is the most prevalent sexually transmitted bacterial infection in the world. Being associated with a large number of asymptomatic carriers, the diagnosis is frequently challenging and requires appropriate laboratory testing. In Portugal, the incidence of the disease has been consistently increasing in recent years, meaning that special awareness is required for case identification, contact tracing and application of appropriate treatments. These recommendations result from the adaptation of the international consensuses on the diagnosis and treatment of Chlamydia trachomatis infection to the Portuguese healthcare setting, with the aim of standardizing the clinical and laboratory approach to symptomatic and nonsymptomatic carriers of the disease.info:eu-repo/semantics/publishedVersio

Comorbidities and Menopause Assessment in Women Living with HIV: a Survey of Healthcare Providers Across the WHO European Region

ABSTRACTWomen living with HIV are reaching older age and experiencing menopause and age-related comorbidities. Data suggest that women living with HIV experience earlier menopause and more menopausal symptoms and age-related comorbidities compared to women without HIV. However, there are no guidelines on the screening for and management of age-related comorbidities and events in women living with HIV. Moreover, little is known about provision of care to this population across Europe. We surveyed 121 HIV healthcare providers in 25 World Health Organization European countries to ascertain screening practices for, and management of, menopause, psychosocial and sexual well-being and age-related comorbidities in women with HIV. Most respondents screened for diabetes, cardiovascular disease (CVD) risk factors and poor mental health at least annually. Low bone mineral density (BMD) was regularly checked but less than once a year. Fewer regularly screened for sexual well-being and intimate partner violence. Menstrual pattern and menopausal symptoms in women aged 45-54 were assessed by 67% and 59% of respondents. 44% stated that they were not confident assessing menopausal status and/or symptoms. CVD, diabetes, low BMD and poor mental health were managed mainly within HIV clinics, whereas menopause care was mainly provided by gynaecology or primary care. Most respondents stated a need for HIV and menopause guidelines. In conclusion, we found that whilst metabolic risk factors and poor mental health are regularly screened for, psychosocial and sexual well-being and menopausal symptoms could be improved. This highlights the need for international recommendations and clinician training to ensure the health of this population.info:eu-repo/semantics/publishedVersio

O Futuro da Psiquiatria

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A Relação Entre a Mente e o Corpo

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