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1.
Orphanet J Rare Dis ; 16(1): 127, 2021 03 11.
Artigo em Inglês | MEDLINE | ID: mdl-33706792

RESUMO

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial disorder, characterized by acute or subacute bilateral vision loss, frequently leading to significant chronic disability, mainly in young people. The causal LHON mutations of the mitochondrial DNA have incomplete penetrance, with the highest risk of disease manifestation for male mutation carriers in the second and third decades of life. Here we evaluated smoking, alcohol drinking habits, health-related quality of life (QOL) and psychiatric comorbidities in a cohort of LHON patients and asymptomatic mutation carriers from a tertiary referral centre. METHODS: Cross-sectional analysis of the ongoing Munich LHON prospective cohort study. Participants included all LHON patients and asymptomatic LHON mutation carriers older than 16 years at baseline, who were recruited between February 2014 and June 2015 and consented to participate. General, neurological and ophthalmological investigations were performed, including validated questionnaires on smoking, alcohol drinking habits, depressive symptoms and health-related QOL. RESULTS: Seventy-one participants were included, 34 LHON patients (82% male) and 37 asymptomatic mutation carriers (19% male). Median age at baseline was 36 years (range 18-75 years). For LHON patients, median age at visual loss onset was 27 years (9 to 72 years). Smoking is more frequent in LHON patients than asymptomatic LHON mutation carriers, and significantly more frequent in both groups than in the general population. Sixty percent of LHON patients, who smoked at disease onset, stopped or significantly reduced smoking after visual loss onset, yet 40% of LHON patients continued to smoke at study baseline. Excessive alcohol consumption is more frequent in male LHON patients than in LHON asymptomatic and more frequent than in the male general population. Further, female asymptomatic LHON mutation carriers are at risk for depression and worse mental QOL scores. CONCLUSIONS: Given the high prevalence of smoking and excessive drinking in LHON mutation carriers, implementing effective measures to reduce these risk factors may have a significant impact in reducing LHON disease conversion risk. The underrecognized prevalence of mental health issues in this population of LHON mutation carriers highlights the need for awareness and more timely diagnosis, which may lead to improved outcomes.


Assuntos
Atrofia Óptica Hereditária de Leber , Qualidade de Vida , Adolescente , Adulto , Idoso , Estudos Transversais , DNA Mitocondrial/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Atrofia Óptica Hereditária de Leber/epidemiologia , Atrofia Óptica Hereditária de Leber/genética , Estudos Prospectivos , Fumar/genética , Adulto Jovem
2.
Fortschr Neurol Psychiatr ; 86(4): 213-218, 2018 04.
Artigo em Alemão | MEDLINE | ID: mdl-29241264

RESUMO

OBJECTIVE: In order to protect non-smokers, the federal states of Germany have adopted a law that provides for extensive smoking bans. In many of these federal laws, acute psychiatric facilities are treated as an exception. Therefore, it is often up to the institutions themselves to develop and enforce regulations. The aim of this study was to evaluate the situation in acute psychiatric facilities. METHODS: The survey was created on the basis of previously evaluated questionnaires and consisted of 53 questions. A total of 289 hospitals were contacted. Participants were invited to take part in the survey via e-mail. RESULTS: 59 hospitals (20.4 %) participated in the survey. Binding regulations were in place in 48 (81.4 %) hospitals, in 26 (44.1 %), smoking was prohibited on open wards. Three hospitals (5.1 %) strictly prohibited smoking on locked wards. Stop-smoking medication was available in 31 (55.3 %) hospitals. 19 (32.2 %) offered smoking cessation interventions. 22 (37.3 %) hospitals have set up a working group on the subject. CONCLUSION: Currently, the issue of smoking in psychiatric facilities does not receive enough attention. The physical and mental health of psychiatric patients would benefit from a smoke-free policy. In order to achieve this, psychiatric staff and patients need appropriate support.


Assuntos
Hospitais Psiquiátricos/legislação & jurisprudência , Psiquiatria/legislação & jurisprudência , Política Antifumo/legislação & jurisprudência , Fumar/legislação & jurisprudência , Atitude do Pessoal de Saúde , Alemanha , Humanos , Unidade Hospitalar de Psiquiatria/legislação & jurisprudência , Abandono do Hábito de Fumar , Inquéritos e Questionários
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