RESUMO
Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. A retrospective observational analysis was conducted with patients who were being monitored at a bronchiectasis outpatient clinic in 2022 and had a confirmed or high-likelihood diagnosis of PCD. In total, 17 patients were included in the study, with 12 (66.7%) having PCD confirmed and 5 (29.4%) having a high-likelihood diagnosis. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic/likely pathogenic mutation in homozygosity. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. Despite the lack of a specific treatment, it is critical to confirm the diagnosis with genetic testing in order to effectively manage the disease and its accompanying disorders.
Assuntos
Bronquiectasia , Transtornos da Motilidade Ciliar , Humanos , Masculino , Feminino , Estudos Retrospectivos , Portugal , Bronquiectasia/diagnóstico , Bronquiectasia/genética , Testes Genéticos , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/genéticaRESUMO
INTRODUCTION: Smokers are frequent users of healthcare services. Admissions to hospital can serve as a "teachable moment" for quitting smoking. Clinical guidelines recommend initiating smoking cessation services during hospitalization; however, in Southern European countries less than 5% of inpatients receive a brief intervention for smoking cessation. OBJECTIVES: The aims of this study were (i) to examine rates of smoking abstinence during and after hospitalization; (ii) to measure changes in smoking patterns among persons who continued smoking after discharge; and (iii) to identify predictors of abstinence during hospitalization and after discharge. METHODS: A cohort study of a representative sample of current adult smokers hospitalized in two Spanish and two Portuguese hospitals. We surveyed smokers during hospitalization and recontacted them one month after discharge. We used a 25-item ad hoc questionnaire regarding their smoking pattern, the smoking cessation intervention they have received during hospitalization, and hospital and sociodemographic characteristics. We performed a descriptive analysis using the chi-square test and a multivariate logistic regression to characterize the participant, hospital, and smoking cessation intervention (5As model) characteristics associated with smoking abstinence. RESULTS: Smoking patients from both countries presented high abstinence rates during hospitalization (Spain: 76.4%; Portugal: 70.2%); however, after discharge, their abstinence rates decreased to 55.3% and 46.8%, respectively. In Spain, smokers who tried to quit before hospital admission showed higher abstinence rates, and those who continued smoking reduced a mean of five cigarettes the number of cigarettes per day (p ≤ 0.001). In Portugal, abstinence rates were higher among women (p = 0.030), those not living with a smoker (p = 0.008), those admitted to medical-surgical wards (p = 0.035), who consumed their first cigarette within 60 min after waking (p = 0.006), and those who were trying to quit before hospitalization (p = 0.043). CONCLUSIONS: Half of the smokers admitted into the Spanish hospitals are abstinent one month after discharge or have reduced their cigarettes per day. Nevertheless, success rates could be increased by implementing evidence-based tobacco cessation programs at the organizational-level, including post-discharge active quitting smoking support. CLINICAL RELEVANCE: Three-quarters of the inpatients who smoke remain abstinent during hospitalization and over half achieve to maintain their abstinence or at least reduce their consumption one month after discharge, proving that admission to hospitals is an excellent teachable moment to quit smoking.
Assuntos
Pacientes Internados , Alta do Paciente , Adulto , Assistência ao Convalescente , Estudos de Coortes , Feminino , Hospitalização , Humanos , Fumar/epidemiologiaRESUMO
RESUMO As medidas de cessação tabágica mostram resultados positivos na diminuição da morbidade e mortalidade associadas ao consumo do tabaco. Esses programas possuem maior eficácia quando se adequam às especificidades dos tabagistas. Este estudo teve como objetivo analisar as diferenças de sexo em uma amostra de 100 fumantes portugueses, através da administração de um questionário sócio-demográfico e clínico. Observaram-se diferenças de sexo no número de cigarros consumidos por dia, no momento do dia e no contexto social de maior consumo, no residir com fumantes, na pressão social para deixar de fumar e no sono. As implicações clínicas dos resultados foram discutidas no sentido de otimizar a prestação dos serviços de saúde em contexto de cessação tabágica.
ABSTRACT Smoking cessation programs reduce the morbidity and mortality associated with tobacco consumption. Such programs are more effective when they are tailored to the specific characteristics of smokers. In this study we analyze sex differences within a group of 100 portuguese smokers, by administering a sociodemographic and clinical questionnaire. The results show sex differences in the number of cigarettes smoked per day, in the time of day and the social contexts connected with greater consumption, in co-habitation with other smokers, in response to social pressures to quit smoking, and in incidence of sleep problems. We discuss the implications of the results for the optimization of the smoking cessation programs offered in healthcare settings.