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Investigation of the heterogeneity of the treatment effect (HTE) might guide the optimization of cognitive behavioral therapy for insomnia (CBT-I). This study examined HTE in CBT-I thereby analyzing if treatment setting, control group, different CBT-I components, and patient characteristics drive HTE. Randomized controlled trials investigating CBT-I were included. Bayesian random effect meta-regressions were specified to examine variances between the intervention and control groups regarding post-treatment symptom severity. Subgroup analyses analyzing treatment setting and control groups and covariate analysis analyzing treatment components and patient characteristics were specified. No significant HTE in CBT-I was found for the overall data set, settings and control groups. The covariate analyses yielded significant results for baseline severity and the treatment component relaxation therapy. Thus, this study identified potential causes for HTE in CBT-I for the first time, showing that it might be worthwhile to further examine possibilities for precision medicine in CBT-I.
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Introduction: Digital phenotyping can be an innovative and unobtrusive way to improve the detection of insomnia. This study explores the correlations between smartphone usage features (SUF) and insomnia symptoms and their predictive value for detecting insomnia symptoms. Methods: In an observational study of a German convenience sample, the Insomnia Severity Index (ISI) and smartphone usage data (e.g., time the screen was active, longest time the screen was inactive in the night) for the previous 7 days were obtained. SUF (e.g., min, mean) were calculated from the smartphone usage data. Correlation analyses between the ISI and SUF were conducted. For the specification of the machine learning models (ML), 80 % of the data was allocated to training, 20 % to testing, and five-fold cross-validation was used. Six algorithms (support vector machine, XGBoost, Random Forest, k-Nearest-Neighbor, Naive Bayes, and Logistic Regressions) were specified to predict ISI scores ≥15. Results: 752 participants (51.1 % female, mean ISI = 10.23, mean age = 41.92) were included in the analyses. Small correlations between some of the SUF and insomnia symptoms were found. In the ML models, sensitivity was low, ranging from 0.05 to 0.27 in the testing subsample. Random Forest and Naive Bayes were the best-performing algorithms. Yet, their AUCs (0.57, 0.58 respectively) in the testing subsample indicated a low discrimination capacity. Conclusions: Given the small magnitude of the correlations and low discrimination capacity of the ML models, SUFs, as measured in this study, do not appear to be sufficient for detecting insomnia symptoms. Further research is necessary to explore whether examining intra-individual variations and subpopulations or employing alternative smartphone sensors yields more promising outcomes.
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BACKGROUND: Pediatric functional neurological disorders (FNDs) are common but grossly under-researched. This survey study aims to define the current landscape of pediatric FND treatment in the United States, identifying treatment programs, care team composition, treatment approaches, and aftercare management. METHODS: The Functional Neurological Disorder Society (FNDS) Pediatric Special Interest Group (SIG), a diverse set of clinician and caregiver stakeholders, collected information on available treatment programs in the United States via survey. Current programs were identified through the FNDS Pediatric SIG and FND Hope's provider registry. RESULTS: Thirty-nine care team members from 24 health care centers yielded 31 unique FND treatment settings. Centers existed in 16 states, concentrated in the Midwest and Southern regions. Outpatient settings (62%) were more prevalent than inpatient. A psychologist (PhD/PsyD) was the most common clinician (52%) with dedicated time to treat FNDs. Most settings accepted ages six to 21 (55%) and treated all FND symptoms (77%). A spectrum of treatment approaches was endorsed with the most common being cognitive behavioral therapy (77%) and personalized approaches (58%). A biopsychosocial approach was evident, with most settings reporting active involvement with school (97%) and caregivers (94%). Most settings (74%) encouraged treatment re-engagement when needed with no strict time limits. All respondents provided aftercare recommendations or referrals. CONCLUSIONS: Pediatric FND treatment is available across the United States, but there is high variability in care team membership, treatment approach, and aftercare management. Future research is necessary to develop effective and sustainable treatment to improve access for this population.
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Doenças do Sistema Nervoso , Humanos , Estados Unidos , Criança , Adolescente , Adulto Jovem , Doenças do Sistema Nervoso/terapia , Transtorno Conversivo/terapia , Masculino , Feminino , Pediatria , Pré-Escolar , AdultoRESUMO
Background and aims: Hashimoto's thyroiditis (HT) is an autoimmune disorder that can lead to hypothyroidism. The pathophysiology of HT involves the production of antithyroid antibodies that attack the thyroid tissue, causing inflammation and progressive fibrosis. Recent studies demonstrated a strong correlation between Interleukin-2 (IL-2) levels and the development of autoimmune diseases, suggesting that this cytokine may play a crucial role in the pathogenesis of HT. Methods: In this study, we determined the presence of the point mutation +114T/G in the IL-2 gene in patients with HT compared with a control group, and also the serum level of anti-thyroid peroxidase (TPOAbs) and anti-thyroglobulin (TgAbs) antibodies in HT patients with vs. without the mutation. The sequences of the IL-2 gene obtained from subjects were determined by the Sanger sequencing method. Results: Our study did not reveal that the +114T/G polymorphism of the IL-2 gene is a susceptibility or protective factor for HT. No significant correlations were observed between the reference genotype, hetero- and homozygous +114T/G polymorphism and TPOAbs, respectively TgAbs serum levels in HT patients. Conclusions: Further studies of more cases are needed to identify more polymorphisms in the IL-2 gene and study their correlations with HT.
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Abstract Objective: To determine the prevalence of allergic rhinitis and associated factors in adolescents and in their parents/guardians. Methods: A cross-sectional study, applying a standardized and validated written questionnaire. Adolescents (13-14 years old; n=1,058) and their parents/guardians (mean age=42.1 years old; n=896) living in the city of Uruguaiana, southern Brazil, responded to the Global Asthma Network standard questionnaires. Results: The prevalence of allergic rhinitis in adolescents was 28.0%, allergic rhinoconjunctivitis, 21.3%, and severe forms of allergic rhinitis, 7.8%. In the adults, the prevalence of allergic rhinitis was 31.7%. Some associated factors with allergic rhinitis in adolescents include low physical exercise (OR 2.16; 95%CI 1.15-4.05), having only one older sibling (OR 1.94; 95CI 1.01-3.72) and daily meat consumption (OR 7.43; 95% CI 1.53-36.11). In contrast, consuming sugar (OR 0.34; 95%CI 0.12-0.93) or olive oil (OR 0.33; 95%CI 0.13-0 .81) once or twice a week, and eating vegetables daily (OR 0.39; 95%CI 0.15-0.99) were considered factors negatively associated. In adults, exposure to fungi at home (OR 5.25; 95%CI 1.01-27.22) and consumption of meat once or twice a week (OR 46.45; 95CI 2.12-1020.71) were factors associated with the medical diagnosis of allergic rhinitis, while low education (OR 0.25; 95%CI 0.07-0.92) was found to be a factor negatively associated. Conclusions: The prevalence of allergic rhinitis in adolescents is high, as well as its medical diagnosis in adults living in Uruguaiana. Environmental factors, especially food habits, were associated with findings in both groups.
Resumo Objetivo: Determinar a prevalência de rinite alérgica e fatores associados em adolescentes e em seus pais/responsáveis. Métodos: Estudo transversal, com aplicação de questionário escrito padronizado e validado. Adolescentes (13-14 anos; n=1.058) e seus pais/responsáveis (média de idade=42,1 anos; n=896) residentes na cidade de Uruguaiana, Sul do Brasil, responderam aos questionários padrão da Global Asthma Network. Resultados: A prevalência de rinite alérgica em adolescentes foi de 28,0%, a de rinoconjuntivite alérgica foi de 21,3% e a de formas graves de rinite alérgica, de 7,8%. Nos adultos, a prevalência de rinite alérgica foi de 31,7%. Alguns fatores associados à rinite alérgica em adolescentes incluem fazer pouco exercício físico (odds ratio — OR 2,16; intervalo de confiança — IC95% 1,15-4,05), ter apenas um irmão mais velho (OR 1,94; IC95% 1,01-3,72) e consumir carne diariamente (OR 7,43; IC95% 1,53-36,11). Por outro lado, consumir açúcar (OR 0,34; IC5% 0,12-0,93) ou azeite de oliva (OR 0,33 IC95% 0,13-0,81) uma ou duas vezes por semana e comer vegetais diariamente (OR 0,39; IC95% 0,15-0,99) foram considerados fatores associados negativamente. Em adultos, a exposição a fungos no domicílio (OR 5,25; IC95% 1,01-27,22) e o consumo de carne uma ou duas vezes por semana (OR 46,45; IC95 2,12-1020,71) foram fatores associados ao diagnóstico médico de rinite alérgica, enquanto a baixa escolaridade (OR 0,25; IC95% 0,07-0,92) se mostrou como fator associado negativamente. Conclusões: A prevalência de rinite alérgica em adolescentes é alta, assim como seu diagnóstico médico em adultos residentes em Uruguaiana. Fatores ambientais, especialmente hábitos alimentares, foram associados aos achados em ambos os grupos.
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Medical schools are known to be stressful environments for students, and hence medical students have been believed to experience greater incidences of depression and anxiety than the general population or students from other spe-cialties. The present study investigates the prevalence of anxiety and depressive symptoms together with factors as-sociated with them among medical students in a federal public university in the south of Brazil. A descriptive study was performed using self-administered questionnaires to access socio-demographic, institutional, and health variables in association with two scales - Beck's Depression Inventory (BDI) and State-Trait Anxiety Inventory (STAI) - designed to assess depressive and anxiety symptoms, respectively. The research sample consisted of 152 subjects. The depres-sive symptoms prevalence was 65.1% (BDI > 9), state-anxiety was 98.6%, and trait-anxiety was 97.4% (STAI > 33). Among women, 37.8% demonstrated moderate/severe depressive symptoms. High levels of state-anxiety symptoms and trait-anxiety symptoms were found in 44.7% of students under the age of 20. In the group with the lowest month-ly income, it was observed the highest distributions for moderate/severe depressive symptoms, high state and high trait-anxiety symptoms, corresponding to 47.4%, 57.9%, and 47.4%, respectively. Students attending the third term of medical school had the highest percentage of moderate/severe depressive symptoms (62.5%) and high state-anxiety symptoms (50%). In addition, students who had both financial aid programs presented the highest percentages of moderate/severe depressive symptoms (46.2%), highstate-anxiety symptoms (61.5%), and high trait-anxiety symptoms (46.2%). We also observed a correlationbetween depression and trait-anxiety symptoms (P = 0.037). In conclusion, it was identified as risk factors for depressive symptoms the previous depression diagnosis, previous search for health service due to psychological symptoms, being in financial aid programs, dissatisfaction with the medical school, and inadequate psychological help offered by it. For state-anxiety symptoms and trait-anxiety outcome, there is an increased risk among low-income or students who have financial help from financial aid programs and younger age students. (AU)
Objetivo: Investigar a prevalência de sintomas de ansiedade e depressão e fatores associados a eles entre es-tudantes de medicina de uma universidade pública do sul do Brasil. Métodos: Foi realizado um estudo descritivo através de questionários autoaplicáveis para avaliar variáveis sociodemográficas, institucionais e de saúde, associa-das a duas escalas - Inventário de Depressão de Beck (BDI) e Inventário de Traço-Estado de Ansiedade (STAI) - para avaliar os sintomas de depressão e ansiedade, respectivamente. Resultados: A prevalência de sintomas depres-sivos foi de 65,1% (BDI > 9), estado de ansiedade foi de 98,6% e traço de ansiedade de 97,4% (STAI > 33). Uma correlação significativa foi encontrada entre depressão e traço de ansiedade. Diagnóstico prévio de depressão, busca prévia por serviços de saúde, insatisfação com o curso de medicina e ter auxílio de baixa renda e bolsa de iniciação científica foram identificados como fatores de risco para depressão. Estudantes com baixa renda mensal e menores de 25 anos apresentaram maior risco para estado de ansiedade. Idade, ano da faculdade de medicina e programa de ajuda financeira provaram ser um fator de risco para traço de ansiedade. Conclusão: Esses resultados mostram fatores significativos relacionados à saúde mental de estudantes de uma faculdade de medicina recém-fundada no interior do Brasil. (AU)
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Humanos , Masculino , Feminino , Adulto , Ansiedade/diagnóstico , Estudantes de Medicina/psicologia , Prevalência , Inquéritos e Questionários , Depressão/diagnósticoRESUMO
Objetivo: Embora o objetivo da Rede Global de Asma (GAN) seja entender o estado atual do eczema atópico (EA), sua prevenção e melhoria geral em seu manejo, particularmente em países de baixa e média renda, ela permite a avaliação de outras doenças alérgicas, como a asma (A) e a rinite alérgica (RA). Nosso objetivo foi determinar a prevalência de EA e fatores associados em adolescentes e seus pais/responsáveis. Método: Adolescentes (13-14 anos; n = 1.058) e seus pais/responsáveis (média = 42,1 anos; n = 896) residentes na cidade de Uruguaiana, RS, sul do Brasil, responderam aos questionários padrão do GAN. Resultados: A prevalência de EA em adolescentes foi de 8%, e a de formas graves foi de 1,3%, com predomínio no sexo feminino (67,8%). Nos adultos, a prevalência de EA foi de 3,1%. Alguns fatores de risco associados ao EA em adolescentes incluem o consumo de azeite ou de margarina. Em adultos, a exposição à umidade e manchas no passado e atual, uso de cigarros eletrônicos/narguilé, e consumo de outros laticínios foram associados a risco, e o consumo de arroz a proteção. Conclusões: A prevalência de EA em adolescentes é alta e predomina em mulheres, assim como o diagnóstico médico de EA em adultos residentes em Uruguaiana. Fatores ambientais, especialmente hábitos alimentares e umidade no domicílio, foram associados aos achados em ambos os grupos.
Objective: Although the purpose of the Global Asthma Network (GAN) is to understand the current status of atopic eczema (AE), including prevention and general improvement in its management, particularly in low- and middle-income countries, it allows the assessment of other allergic diseases such as asthma and allergic rhinitis. Our objective was to determine the prevalence of AE and associated factors in adolescents and their parents/guardians. Method: Adolescents (13-14 years old; n = 1058) and their parents/guardians (mean = 42.1 years old; n = 896) living in the city of Uruguaiana, RS, southern Brazil, completed the standard GAN questionnaires. Results: The prevalence of AE in adolescents was 8%, and that of severe forms was 1.3%, with predominance in females (67.8%). In adults, the prevalence of AE was 3.1%. Some risk factors associated with AE in adolescents include the consumption of oil or margarine. In adults, exposure to moisture and stains in the past and currently, use of electronic cigarettes/ hookahs, and consumption of other dairy products were identified as risk factors, while rice consumption was considered a protective factor. Conclusions: The prevalence of AE in adolescents is high and the disease predominates in women, as well as the medical diagnosis of AE in adults living in Uruguaiana. Environmental factors, especially eating habits and moisture at home, were associated with the findings in both groups.
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Humanos , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Inquéritos e Questionários , Fatores de Risco , Dermatite Atópica , Pais , Asma , Sinais e Sintomas , Estudos Transversais , Laticínios , Diagnóstico , Comportamento Alimentar , Rinite Alérgica , Sistemas Eletrônicos de Liberação de Nicotina , Azeite de Oliva , UmidadeRESUMO
O objetivo deste artigo foi avaliar a relação entre poluição atmosférica e a saúde das crianças. Foi realizada pesquisa na base de dados do MEDLINE, nos últimos 10 anos, empregando os seguintes termos: "air pollution", ou "household air pollution" ou "primary traffic pollutants" ou "environmental burden" AND "child health" ou "lung function" ou "acute respiratory infections" ou "pregnancy". Os artigos identificados foram selecionados após leitura dos títulos, e os considerados de importância foram lidos na íntegra e incluídos nessa revisão. Além desses, referências por eles citadas e dados de agências oficiais, considerados de relevância, também foram incluídos. Estudos documentam associação positiva entre exposição de crianças à poluição do ar e maior morbimortalidade de afecções respiratórias, incluindo a asma. Quanto mais precoce for essa exposição, maiores serão os seus efeitos.
The objective of this study was to evaluate the relationship between air pollution and children's health. A search was performed in the MEDLINE database for the past 10 years using the following terms: "air pollution" or "household air pollution" or "primary traffic pollutants" AND "child health" or "lung function" or "acute respiratory infections" or "pregnancy". For selection of articles, titles were read and analyzed, and articles considered of importance were read in full and then included in this review. In addition, cited references and relevant data from official agencies were included. The selected studies report a positive association between exposure of children to air pollution and increased morbidity and mortality due to respiratory diseases, including asthma. The earlier the exposure, the greater its effects.
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Humanos , Criança , Infecções Respiratórias , Asma , Poluição do Ar , Saúde da Criança , Morbidade , Mortalidade , MEDLINE , Poluentes Ambientais , Trânsito Viário , PulmãoRESUMO
Introdução: Os farmacêuticos, geralmente, são os primeiros profissionais a atenderem pacientes com rinite alérgica (RA). A guia ARIA (Rinite Alérgica e seu Impacto na Asma) estabelece padrões de melhores práticas para o manejo de pacientes com RA. Objetivo: Avaliar o nível de conhecimento sobre RA e a guia ARIA entre farmacêuticos do Brasil (BR) e Paraguai (PY). Método: 205 farmacêuticos (BR = 78, PY = 127) responderam ao questionário online autoaplicável (ARIA One Airways) sobre dados pessoais, profissionais e conhecimento sobre RA e guia ARIA, empregando o Google Forms. Resultados: A mediana de idade foi 32 anos, 35% BR e 52% PY referiam terem tido mais de quatro anos de treinamento. Embora reconheçam os principais sintomas de RA, 26% BR e 100% PY nunca perguntaram se o paciente tinha diagnóstico médico de RA; 20,5% BR e 100,0% PY se os sintomas ocorreram quando perto de animais ou alérgenos; 55% BR e 76% PY se o paciente tinha diagnóstico médico de asma; 59% BR e 70% PY se a rinite piora os sintomas de asma. Anti-histamínicos sedantes foram recomendados por 34,6% BR e 26,8% PY, e corticosteroides intranasais por 59% BR e 52% PY. Embora 85% BR e 100% PY desconheçam as diretrizes ARIA, 94,9% BR e 60,6% PY encaminhariam o paciente a um especialista. Conclusão: Embora os farmacêuticos sejam os primeiros profissionais procurados pelo paciente com RA para alívio de sintomas, o seu nível de conhecimento sobre RA e a guia ARIA é baixo. O seu treinamento para atingir melhor abordagem clínica é primordial.
Introduction: Pharmacists are usually the first professionals to see patients with allergic rhinitis (AR). The Allergic Rhinitis and its Impact on Asthma (ARIA) guidelines establish best practice standards for the management of patients with AR. Objective: To evaluate the level of knowledge of AR and ARIA guideline recommendations among pharmacists in Brazil (BR) and Paraguay (PY). Method: A total of 205 pharmacists (BR = 78, PY = 127) answered a self-administered online questionnaire (ARIA One Airways), using the Google Forms tool, containing questions covering personal data, professional data, and knowledge of AR and ARIA guidelines. Results: Median age was 32 years; 35% BR and 52% PY reported having had more than four years of training. Although they recognized the main symptoms of AR, 26% BR and 100% PY never asked whether the patient had a medical diagnosis of AR; 20.5% BR and 100.0% PY if symptoms occurred when close to animals or allergens; 55% BR and 76% PY if the patient had a medical diagnosis of asthma; 59% BR and 70% PY if rhinitis worsened asthma symptoms. Sedating antihistamines were recommended by 34.6% BR and 26.8% PY, and intranasal corticosteroids by 59% BR and 52% PY. Although 85% BR and 100% PY were unaware of ARIA guidelines, 94.9% BR and 60.6% PY would refer the patient to a specialist. Conclusion: Even though pharmacists are the first professionals sought by patients with AR for symptom relief, their level of knowledge of AR and ARIA guidelines is very low. Training is paramount to improve clinical management of AR among pharmacists.
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Humanos , Farmacêuticos , Asma , Guias de Prática Clínica como Assunto , Rinite Alérgica , Paraguai , Pacientes , Sociedades , Brasil , Inquéritos e Questionários , Conhecimento , Diagnóstico , Antagonistas dos Receptores Histamínicos , Antagonistas dos Receptores Histamínicos H1RESUMO
Abstract Background: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country. Objective: To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2 in a cohort of HCM patients living in the extreme south of Brazil, and to evaluate genotype-phenotype associations. Methods: Direct DNA sequencing of all encoding regions of three sarcomeric genes was conducted in 43 consecutive individuals of ten unrelated families. Results: Mutations for CMH have been found in 25 (58%) patients of seven (70%) of the ten study families. Fourteen (56%) individuals were phenotype-positive. All mutations were missense, four (66%) in MYH7 and two (33%) in MYBPC3. We have not found mutations in the TNNT2 gene. Mutations in MYH7 were identified in 20 (47%) patients of six (60%) families. Two of them had not been previously described. Mutations in MYBPC3 were found in seven (16%) members of two (20%) families. Two (5%) patients showed double heterozygosis for both genes. The mutations affected different domains of encoded proteins and led to variable phenotypic expression. A family history of HCM was identified in all genotype-positive individuals. Conclusions: In this first genetic-molecular analysis carried out in the south of Brazil, we found mutations in the sarcomeric genes MYH7 and MYBPC3 in 58% of individuals. MYH7-related disease was identified in the majority of cases with mutation.
Resumo Fundamento: Mutações em genes do sarcômero são encontradas em 60-70% dos indivíduos com formas familiares de cardiomiopatia hipertrófica. (CMH). Entretanto, essa estimativa refere-se a populações de países do hemisfério norte. O perfil genético-molecular da CMH foi tema de poucos estudos no Brasil, particularmente na região sul do país. Objetivo: Realizar a pesquisa de mutações dos genes sarcoméricos MYH7, MYBPC3 e TNNT2 numa coorte de CMH estabelecida no extremo sul do Brasil, assim como avaliar as associações genótipo-fenótipo. Métodos: Sequenciamento direto do DNA de todas as regiões codificantes dos três genes sarcoméricos foi realizada em 43 indivíduos consecutivos de dez famílias não-relacionadas. Resultados: Mutações para CMH foram encontradas em 25 (58%) indivíduos de sete (70%) das dez famílias estudadas, sendo 14 (56%) deles fenótipo-positivos. Todas as mutações eram missense, quatro (66%) no gene MYH7 e duas (33%) no gene MYBPC3. Não foram encontradas mutações no gene TNNT2. Mutações em MYH7 foram identificadas em 20 (47%) indivíduos de seis (60%) famílias. Duas delas não haviam sido previamente relatadas. Mutações de MYBPC3 foram detectadas em sete (16%) membros de duas (20%) famílias. Dois (5%) indivíduos apresentaram dupla heterozigose com mutações em ambos os genes. As mutações acometeram distintos domínios das proteínas codificadas e produziram expressão fenotípica variável. História familiar de CMH foi identificada em todos os indivíduos genótipo-positivos. Conclusões: Nessa primeira análise genético-molecular da CMH realizada no sul do Brasil, foram encontradas mutações nos genes sarcoméricos MYH7 e MYBPC3 em 58% dos indivíduos. Doença relacionada ao gene MYH7 foi identificada na maioria dos casos com mutação.
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Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Proteínas de Transporte/genética , Cadeias Pesadas de Miosina/genética , Cardiomiopatia Hipertrófica Familiar/genética , Miosinas Cardíacas/genética , Estudos de Associação Genética , Mutação , Fenótipo , Sarcômeros/genética , Índice de Gravidade de Doença , Brasil , Análise Mutacional de DNA/métodos , Estudos Transversais , Morte Súbita Cardíaca , Hipertrofia Ventricular Esquerda/genética , Estatísticas não Paramétricas , Troponina T/genéticaRESUMO
OBJETIVO: Avaliar a contribuição da análise molecular do gene cystic fibrosis transmembrane conductance regulator (CFTR, regulador da condutância transmembrana na fibrose cística) na investigação diagnóstica da fibrose cística em pacientes com suspeita de fibrose cística (FC) leve ou atípica. Métodos: Estudo transversal em adolescentes e adultos (idade > 14 anos). Os voluntários foram submetidos à avaliação clínica, laboratorial e radiológica; espirometria, microbiologia do escarro, ecografia hepática, teste do suor e análise molecular do gene CFTR. Compararam-se as características dos pacientes divididos em três grupos, segundo o número de mutações identificadas (duas ou mais, uma e nenhuma). Resultados: Foram avaliados 37 pacientes com achados fenotípicos de FC, com ou sem confirmação pelo teste do suor. Houve predomínio do sexo feminino (75,7%), e a média de idade dos participantes foi de 32,5 ± 13,6 anos. A análise molecular contribuiu para o diagnóstico de FC em 3 casos (8,1%), todos esses com pelo menos duas mutações. Houve a identificação de uma e nenhuma mutação, respectivamente, em 7 (18,9%) e 26 pacientes (70,3%). Nenhuma característica clínica estudada se associou com o diagnóstico genético. A mutação p.F508del foi a mais comum, encontrada em 5 pacientes. A associação de p.V232D e p.F508del foi encontrada em 2 pacientes. Outras mutações encontradas foram p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H e p.T351S. Conclusões: A análise molecular da região codificadora do gene CFTR apresentou uma contribuição limitada para a investigação diagnóstica desses pacientes com suspeita de FC leve ou atípica. Além disso, não houve associações entre as características clínicas e o diagnóstico genético.
OBJECTIVE: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). METHODS: This was a cross-sectional study involving adolescents and adults aged > 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics. RESULTS: We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S. CONCLUSIONS: The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.