Pesquisa de fatores ambientais e da presença de antecedentes familiares como fatores de risco para o desenvolvimento da doença de Chron

Trabalho final de mestrado integrado em Medicina, área cientifica de Gastrenterologia, apresentado à Faculdade de Medicina da Universidade de CoimbraIntrodução: A Doença de Crohn (DC) é uma doença crónica, progressiva e destrutiva. Apesar de a sua etiologia permanecer obscura, é atualmente considerada o resultado de uma interação multifatorial. É caracterizada como uma doença dos países industrializados que, embora relativamente rara, tem vindo a ter incidência crescente. Este aspeto faz com que se suspeite que fatores ambientais (FA) tenham um papel relevante na sua etiopatogenia. Objetivos: Pesquisa de FA e da presença de antecedentes familiares (AF) como fatores de risco (FR) para o desenvolvimento da DC. Métodos: Incluímos no estudo 123 doentes da consulta de DC do Serviço de Gastrenterologia dos Hospitais da Universidade de Coimbra (HUC), entre Julho e Novembro de 2011. Destes, 121 foram validados. Foram aplicados questionários preenchidos presencialmente pelos mesmos, pretendendo avaliar: situação sociodemográfica da amostra, hábitos de saúde e existência de AF com doença inflamatória intestinal (DII). Foi posteriormente feita uma análise de frequências. Em relação ao tabaco foi ainda aplicado o Teste t de Student para determinar o significado estatístico da percentagem de fumadores obtida no estudo; e o Teste de Comparação de Médias para correlacionar o tempo de cessação tabágica com o tempo de duração da doença. Resultados: Dos inquiridos, 62% são mulheres, pertencendo atualmente a uma faixa etária adulta (32% dos 31 aos 40 anos), apesar de os primeiros sintomas surgirem mais frequentemente na terceira década de vida. A maioria dos inquiridos reside em Coimbra, sendo que a maior parte refere ambientes urbanos como principal local de habitação, quer no passado, quer no presente. Grande parte concluiu o ensino secundário (40%) e encontra-se ativo a nível profissional (73,9%). As profissões são qualificadas na maior parte das vezes. Quanto a hábitos tabágicos, 23,6% é fumador, sendo este valor significativo quando comparado com o da população Portuguesa em geral (p<0,05). Os ex-fumadores deixaram de fumar, muito provavelmente, aquando do diagnóstico (p<0,05). Mais de metade das inquiridas toma contracetivos orais (CO). Dos inquiridos, 35,2% diz ter familiares consanguíneos com DII que, na maior parte das vezes, corresponde a DC. Conclusões: O aumento da incidência da DC parece ter como papel preponderante a existência de FA que podem ser vistos como FR para a DC. Dentro da nossa amostra pareceu haver uma forte predominância de indivíduos com nível de escolaridade elevado, exercendo profissões qualificadas e habitando preferencialmente em zonas urbanas. A taxa de fumadores é significativamente superior ao da população em geral e grande parte dos inquiridos tem familiares com DIIIntroduction: Crohn’s Disease (DC) is a chronic, progressive and destructive condition. Although its etiology may remain hidden, it is considered nowadays to be the result of a multi-factor interaction. It is also known as a disease of the industrialized countries and, despite the fact of still being considered a rare condition, its incidence has been growing in the last years. This key aspect makes us suspect that environmental factors (FA) may play a fundamental part in its etiopathogenesis. Objectives: Search for environmental factors and family history that can be considered as risk factors for the development of Crohn’s Disease. Methods: 123 patients followed at the Gastroenterology Department of the Hospitais da Universidade de Coimbra, between the months of July and November of 2011, were included in this study. From these, 121 were validated. All patients filled an inquiry under supervision, in order to gather information concerning sociodemographic status of the sample, health habits and previous family history of inflammatory bowel disease. Later on, a frequency analysis statistical was conducted. Regarding smoking habits, Student’s t-test was also applied to determine the statistical meaning of smoking rates obtained in this study; and test to comparision mean to correlating the time since the smoking habit stopped with the duration of the disease. Results: From the inquired patients, 62% are women, belonging to an age group of adults at the time of this study (32% were of ages 31 to 40), although the first symptoms usually start in the third decade. The majority of the inquired patients live in Coimbra, most of them mentioning urban environments as their primary area of living, either today or somewhere in the past. Almost half graduated from high school (40%) and about 73,9% have some sort of professional activity (most of them qualified professionals). Adressing smoking habits, 23,6% are smokers, which is of relevance when compared to the general Portuguese population (p-value<0,05). Ex-smokers most probably ended the habit at the time of diagnosis (p-value<0,05). More than half of the inquired patients confirm the use of oral contraceptives. 35,2% of the inquired patients regards the existence of consanguineous family members who had inflammatory bowel disease, which, in most cases, is Crohn’s Disease. Conclusions: The existence of environmental factors that can be considered as risk factors for Crohn’s Disease seems to have a vital role in the increasing incidence of this condition. Our patient sample showed predominance of high educational levels, qualified professionals and preference for urban area inhabitation. The smoking rates were significantly greater than that of the general Portuguese population and most of the inquired patients had a family history of inflammatory bowel disease

Sarcopenia is associated with postoperative outcome in patients with Crohn’s disease undergoing bowel resection

Sarcopenia is as an important prognostic factor in inflammatory bowel disease. In patients with Crohn’s disease (CD), sarcopenia has impact on morbidity after surgical resection. Aim: Evaluate sarcopenia impact on prognosis of patients with CD and assess CD sarcopenia prevalence. An retrospective study of 58 CD patients diagnosed histologically and imagiologically at the Hospital de Braga between 1 January 2009 and 31 December 2017. In order to obtain the Skeletal Muscle Index (SMI), it was calculated the muscle area at L3 level, from computed tomography. The t-test was used for independent samples, Mann-Whitney test, chi-square test and Fisher’s exact test for comparison between groups with and without sarcopenia. Sarcopenia prevalence was 41.4% (24 patients). Patients with sarcopenia presented a muscle area with a mean value of 119.88 cm2 (±28.10), significantly lower than that of the group of patients without sarcopenia (t(56) = 2.191, p = 0.033, d = 0.60), and values of SMI with median 42.86 cm2/m2, significantly lower than patients without sarcopenia (t(56) = 2.815, p = 0.007, d = 0.08). Regarding postoperative complications, significant differences were observed between the two groups (p = 0.000). In this study, sarcopenia was significantly associated with postoperative morbidity, as reported in the literature.info:eu-repo/semantics/publishedVersio

Prevalence of musculoskeletal disorders in the lower limbs of artisanal fisherwomen / shellfish gatherers of Brazil

Objective: to estimate the prevalence of musculoskeletal disorders (MSDs) in the lower limbs of artisanal fishermen/fisherwomen from Saubara, Bahia, Brazil. Methods: A cross-sectional study, using the Nordic Musculoskeletal Questionnaire (NMQ), the Brazilian version of the Job Content Questionnaire (JCQ) and a questionnaire about physical demands, were used to collectinformation in a random sample of artisanal fishermen/shellfish gatherers, in 2013.&nbsp; Results: The prevalence of MSDs in lower limbs in the sample was 65.5% (n=137). The prevalence of MSDs in the thigh/knee segment, leg and ankle/foot were 48.7% (n=92), 47.7% (n=95) and 38.1% (n=72), respectively. There was also a high frequency of obesity, poor education, low wages, early age at onset of labor, and excessive workload. Conclusion: The high prevalence of MSDs in lower limbs in female artisanal fishermen indicates the need to develop strategies for prevention, diagnosis and reporting of these diseases.Introdução: a pesca em pequena escala é responsável por pelo menos 40% do pescado consumido no mundo e, no Brasil, o trabalhador desse setor é o pescador artesanal, que contabiliza um a cada 200 brasileiros. Por se tratar de uma atividade da economia informal, as patologias que afetam esses pescadores são praticamente invisíveis nas estatísticas oficiais do país. Nesse contexto, os distúrbios musculoesqueléticos representam um grande problema socioeconômico e de saúde pública, mas sua prevalência é pouco conhecida entre trabalhadores não formais. Objetivo: estimar a prevalência de distúrbios musculoesqueléticos nos membros inferiores e fatores associados, em pescadores artesanais/marisqueiras de Saubara, Bahia, Brasil. Metodologia: trata-se de um estudo transversal, utilizando o Nordic Musculoskeletal Questionnaire, a versão brasileira do Job Content Questionnaire e um questionário sobre demandas físicas, para a coleta de informações em uma amostra aleatória de pescadores artesanais/marisqueiras, ocorridaem 2013. Resultados: a prevalência de distúrbios musculoesqueléticos em membros inferiores na amostra foi de 65,5% (n=137); a prevalência no segmento coxa/joelho, perna e tornozelo/pé foi de 48,7% (n=92), 47,7% (n=95) e 38,1% (n=72), respectivamente. Observaram-se também alta frequência de obesidade, baixa escolaridade, baixos salários, idade precoce para o início do trabalho e carga horária excessiva. Fatores como idade, tabagismo, demandas físicas, tempo de trabalho, ausência de pausas e trabalho anterior, estavam associados aos referidos distúrbios. Conclusão: A alta prevalência de distúrbios musculoesqueléticos dos membros inferiores em pescadoras artesanais indica a necessidade de desenvolver estratégias de prevenção, diagnóstico e notificação dessas doenças

Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma

Background: Pheochromocytoma and paraganglioma (PHEO/PGL) are rare neuroendocrine tumors which may cause potentially life-threatening complications, with about a third of cases found to harbor specific gene mutations. Thus, early diagnosis, treatment, and meticulous monitoring are of utmost importance. Because of low incidence of succinate dehydrogenase complex subunit A (SDHA)-related metastatic PHEO/PGL, currently there exists insufficient clinical information, especially with regards to its diagnostic and treatment characteristics.Methods: Ten patients with SDHA-related metastatic PHEO/PGL were followed-up prospectively and/or retrospectively between January 2010–July 2018. They underwent biochemical tests (n = 10), 123I-MIBG (n = 9) scintigraphy, and multiple whole-body positron emission tomography/computed tomography (PET/CT) scans with 68Ga-DOTATATE (n = 10), 18F-FDG (n = 10), and 18F-FDOPA (n = 6).Results: Our findings suggest that these tumors can occur early and at extra-adrenal locations, behave aggressively, and have a tendency to develop metastatic disease within a short period of time. None of our patients had a family history of PHEO/PGL, making them appear sporadic. Nine out of 10 patients showed abnormal PHEO/PGL-specific biochemical markers with predominantly noradrenergic and/or dopaminergic phenotype, suggesting their utility in diagnosing and monitoring the disease. Per patient detection rates of 68Ga-DOTATATE (n = 10/10), 18F-FDG (n = 10/10), 18F-FDOPA (n = 5/6) PET/CT, and 123I-MIBG (n = 7/9) scintigraphy were 100, 100, 83.33, and 77.77%, respectively. Five out of 7 123I-MIBG positive patients had minimal 123I-MIBG avidity or detected very few lesions compared to widespread metastatic disease on 18F-FDG PET/CT, implying that diagnosis and treatment with 123/131I-MIBG is not a good option. 68Ga-DOTATATE PET/CT was found to be superior or equal to 18F-FDG PET/CT in 7 out of 10 patients and hence, is recommended for evaluation and follow-up of these patients. All 7 out of 7 patients who received conventional therapies (chemotherapy, somatostatin analog therapy, radiation therapy, 131I-MIBG, peptide receptor radionuclide therapy) in addition to surgery showed disease progression.Conclusion: In our cohort of patients, SDHA-related metastatic PHEO/PGL followed a disease-course similar to that of SDHB-related metastatic PHEO/PGL, showing highly aggressive behavior, similar imaging and biochemical phenotypes, and suboptimal response to conventional therapies. Therefore, we recommend careful surveillance of the affected patients and a search for effective therapies

Perceived helpfulness of treatment for posttraumatic stress disorder: Findings from the World Mental Health Surveys

Background: Perceived helpfulness of treatment is an important healthcare quality indicator in the era of patient-centered care. We examine probability and predictors of two key components of this indicator for posttraumatic stress disorder (PTSD). Methods: Data come from World Mental Health surveys in 16 countries. Respondents who ever sought PTSD treatment (n = 779) were asked if treatment was ever helpful and, if so, the number of professionals they had to see to obtain helpful treatment. Patients whose treatment was never helpful were asked how many professionals they saw. Parallel survival models were estimated for obtaining helpful treatment in a specific encounter and persisting in help-seeking after earlier unhelpful encounters. Results: Fifty seven percent of patients eventually received helpful treatment, but survival analysis suggests that it would have been 85.7% if all patients had persisted in help-seeking with up to six professionals after earlier unhelpful treatment. Survival analysis suggests that only 23.6% of patients would persist to that extent. Odds of ever receiving helpful treatment were positively associated with receiving treatment from a mental health professional, short delays in initiating help-seeking after onset, absence of prior comorbid anxiety disorders and childhood adversities, and initiating treatment before 2000. Some of these variables predicted helpfulness of specific treatment encounters and others predicted persistence after earlier unhelpful encounters. Conclusions: The great majority of patients with PTSD would receive treatment they considered helpful if they persisted in help-seeking after initial unhelpful encounters, but most patients whose initial treatment is unhelpful give up before receiving helpful treatment

Patterns and correlates of patient-reported helpfulness of treatment for common mental and substance use disorders in the WHO World Mental Health Surveys

Patient-reported helpfulness of treatment is an important indicator of quality in patient-centered care. We examined its pathways and predictors among respondents to household surveys who reported ever receiving treatment for major depression, generalized anxiety disorder, social phobia, specific phobia, post-traumatic stress disorder, bipolar disorder, or alcohol use disorder. Data came from 30 community epidemiological surveys - 17 in high-income countries (HICs) and 13 in low- and middle-income countries (LMICs) - carried out as part of the World Health Organization (WHO)'s World Mental Health (WMH) Surveys. Respondents were asked whether treatment of each disorder was ever helpful and, if so, the number of professionals seen before receiving helpful treatment. Across all surveys and diagnostic categories, 26.1% of patients (N=10,035) reported being helped by the very first professional they saw. Persisting to a second professional after a first unhelpful treatment brought the cumulative probability of receiving helpful treatment to 51.2%. If patients persisted with up through eight professionals, the cumulative probability rose to 90.6%. However, only an estimated 22.8% of patients would have persisted in seeing these many professionals after repeatedly receiving treatments they considered not helpful. Although the proportion of individuals with disorders who sought treatment was higher and they were more persistent in HICs than LMICs, proportional helpfulness among treated cases was no different between HICs and LMICs. A wide range of predictors of perceived treatment helpfulness were found, some of them consistent across diagnostic categories and others unique to specific disorders. These results provide novel information about patient evaluations of treatment across diagnoses and countries varying in income level, and suggest that a critical issue in improving the quality of care for mental disorders should be fostering persistence in professional help-seeking if earlier treatments are not helpful

Age of onset and cumulative risk of mental disorders:a cross-national analysis of population surveys from 29 countries

Background: Information on the frequency and timing of mental disorder onsets across the lifespan is of fundamental importance for public health planning. Broad, cross-national estimates of this information from coordinated general population surveys were last updated in 2007. We aimed to provide updated and improved estimates of age-of-onset distributions, lifetime prevalence, and morbid risk. Methods: In this cross-national analysis, we analysed data from respondents aged 18 years or older to the World Mental Health surveys, a coordinated series of cross-sectional, face-to-face community epidemiological surveys administered between 2001 and 2022. In the surveys, the WHO Composite International Diagnostic Interview, a fully structured psychiatric diagnostic interview, was used to assess age of onset, lifetime prevalence, and morbid risk of 13 DSM-IV mental disorders until age 75 years across surveys by sex. We did not assess ethnicity. The surveys were geographically clustered and weighted to adjust for selection probability, and standard errors of incidence rates and cumulative incidence curves were calculated using the jackknife repeated replications simulation method, taking weighting and geographical clustering of data into account. Findings: We included 156 331 respondents from 32 surveys in 29 countries, including 12 low-income and middle-income countries and 17 high-income countries, and including 85 308 (54·5%) female respondents and 71 023 (45·4%) male respondents. The lifetime prevalence of any mental disorder was 28·6% (95% CI 27·9–29·2) for male respondents and 29·8% (29·2–30·3) for female respondents. Morbid risk of any mental disorder by age 75 years was 46·4% (44·9–47·8) for male respondents and 53·1% (51·9–54·3) for female respondents. Conditional probabilities of first onset peaked at approximately age 15 years, with a median age of onset of 19 years (IQR 14–32) for male respondents and 20 years (12–36) for female respondents. The two most prevalent disorders were alcohol use disorder and major depressive disorder for male respondents and major depressive disorder and specific phobia for female respondents. Interpretation: By age 75 years, approximately half the population can expect to develop one or more of the 13 mental disorders considered in this Article. These disorders typically first emerge in childhood, adolescence, or young adulthood. Services should have the capacity to detect and treat common mental disorders promptly and to optimise care that suits people at these crucial parts of the life course. Funding: None.</p

The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance

INTRODUCTION Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic. RATIONALE We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs). RESULTS Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants. CONCLUSION Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century

Tumor carcinoide de reto: diagnóstico e orientação

The authors present a case of rectal carcinoid tumor in an asymptomatic patient who sought a coloproctology service with the purpose of colorectal cancer prevention. During colonoscopy, a polyp lesion was found in the rectum, and it was resected with a polypectomy loop. Anatomopathological examination revealed a rectal carcinoid tumor with compromised margins. The lesion site was resected again and pathological exam no longer showed neoplasia. A systematic review of the issue was performed, discussing diagnosis aspects, difficulties in the choice of therapeutic approaches, and prognosis. The conclusion is that the rarity of the disease brings difficulties in the choice of treatment; although it has a good prognosis in most cases, its malignant potential cannot be underestimated.Apresentamos um caso clínico de um tumor carcinóide de reto em um paciente assintomático que procurou um serviço de colo-proctologia com o objetivo de fazer prevenção ao câncer colorretal. Durante a colonoscopia observou-se uma lesão polipóide no reto, a qual foi ressecada com alça de polipectomia. O exame anatomopatológico evidenciou tumor carcinóide de reto com comprometimento de margem. O local foi novamente ressecado e o resultado patológico não mais evidenciou neoplasia. Neste artigo é feita uma revisão bibliográfica do assunto abordando aspectos diagnósticos, dificuldade na escolha da conduta terapêutica e prognóstica. O trabalho conclui que a raridade do caso implica em dificuldades na escolha da conduta e que apesar de ter bom prognóstico, em uma parcela dos casos o seu potencial maligno não deve ser desprezado(undefined