Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset.

BACKGROUND: ATTRV30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by amyloid deposition composed of aggregated misfolded TTR monomers with the V30M mutation. The age of onset in patients with ATTRV30M varies in different foci and the mechanism behind it is still unknown. METHODS: The tertiary neurology center following all ATTRV30M patients in Cyprus was used to collect demographic data to estimate; prevalence, incidence, penetrance, anticipation, time from disease onset to diagnosis and transplantation. Ocular, cardiac and leptomeningeal involvement in transplanted patients was explored. Correlation of C1q tagging SNPs with age of disease onset was carried out. RESULTS: Prevalence and incidence for ATTRV30M neuropathy in Cyprus are 5.4/100,000 and 0.3/100,000 respectively. Mean age of onset is 40.6 years and anticipation is 8.3 years. Penetrance reaches 51% and 75% by the ages of 50 and 80 years respectively. In liver transplanted patients rates of ocular, cardiac and leptomeningeal involvement were estimated to be 60%, 20% and 16%, respectively. C1q polymorphisms correlated with age of disease onset. CONCLUSIONS: ATTRV30M neuropathy has a rising prevalence in Cyprus due to improved survival of patients. Late onset complications are becoming a major problem. Complement C1q appears to be a modifier in this disease

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

Adherence to the Mediterranean Diet and Lifestyle Characteristics of University Students in Cyprus: A Cross-Sectional Survey

Objective. To assess dietary-related habits among young adults. Design and Setting. Dietary habits were assessed cross-sectionally, using a self-completed questionnaire in 193 students enrolled in public and private universities in Cyprus. Adherence to the Mediterranean diet was evaluated using the validated KIDMED index. BMI was estimated based on weight and height measurements. Results. The mean BMI was 23.31 (±3.98). The mean adherence score to the Mediterranean diet was 6.0 (IQR 4 to 8), with 26.9% of students being classified as high adherers and 21.8% as low adherers to the Mediterranean diet. About 32% of students consumed a second serving of fruit and vegetables more than once a day, whereas 26% reported going more than once a week to a fast-food restaurant and 31% consumed sweets and candy several times a day. On the other hand, 76% of participants reported consumption of at least two dairy products daily and 88% use olive oil at home. The majority consume coffee 2-3 times per day. Conclusions. Results support a shift from traditional healthy diets to more unhealthy eating patterns. However, we also report a high dairy intake and use of olive oil. Tailored-made strategies targeting the young adult population could be warranted

Risky and aggressive driving in young adults: Personality matters

Young, novice drivers constitute a disproportionate percentage of fatalities and injuries in road traffic accidents around the world. This study, attempts to identify motivational factors behind risky driving behavior, and examines the role of personality, especially sensation seeking, impulsivity and sensitivity to punishment/reward in predicting negative driving outcomes (accident involvement and traffic offences) among young drivers. Gender and driver's age are additional factors examined in relation to driving outcomes and personality. Adopting the contextual mediated model of traffic accident involvement (Sümer, 2003), the study is based on the theory that personality, age and gender represent distal factors that predict accident involvement indirectly through their relationship with stable tendencies towards aberrant driving behavior. Results from correlations and Structural Equation Modeling using AMOS 6 indicated that direct personality effects on driving outcomes were few, whereas personality had significant correlations with aberrant driving behavior, showing that personality is a distal but important predictor of negative driving outcomes. These high risk traits appear to be at a peak among young male drivers. Thus, personality is important in understanding aggressive and risky driving by young adults and needs to be taken into consideration in designing targeted accident prevention policies

Risky and aggressive driving in young adults:Personality matters

Young, novice drivers constitute a disproportionate percentage of fatalities and injuries in road traffic accidents around the world. This study, attempts to identify motivational factors behind risky driving behavior, and examines the role of personality, especially sensation seeking, impulsivity and sensitivity to punishment/reward in predicting negative driving outcomes (accident involvement and traffic offences) among young drivers. Gender and driver's age are additional factors examined in relation to driving outcomes and personality. Adopting the contextual mediated model of traffic accident involvement (Sümer, 2003), the study is based on the theory that personality, age and gender represent distal factors that predict accident involvement indirectly through their relationship with stable tendencies towards aberrant driving behavior. Results from correlations and Structural Equation Modeling using AMOS 6 indicated that direct personality effects on driving outcomes were few, whereas personality had significant correlations with aberrant driving behavior, showing that personality is a distal but important predictor of negative driving outcomes. These high risk traits appear to be at a peak among young male drivers. Thus, personality is important in understanding aggressive and risky driving by young adults and needs to be taken into consideration in designing targeted accident prevention policies

Atitudes e conhecimentos dos enfermeiros em relação aos direitos do paciente: uma revisão sistemática

Objetivo: Sintetizar as evidências atuais sobre as atitudes e/ou conhecimentos dos enfermeiros sobre todo o espectro dos direitos do paciente. Método: Uma busca sistemática da literatura foi realizada na Web of Science, PubMed, Scopus e CINAHL. Os estudos foram selecionados de acordo com critérios de inclusão/exclusão pré-definidos. As diretrizes Cochrane e PRISMA, incluindo modelos para revisões sistemáticas, foram aplicadas. Para uma avaliação rigorosa, foram utilizados o Critical Appraisal Skills Program Qualitative Research Checklist e a ferramenta do Center for Evidence-Based Management. Resultados: Foram incluídos 13 estudos que exibiram limitações metodológicas importantes, como amostragem por conveniência, taxas de resposta medíocres e validade inadequada do instrumento. Os resultados indicaram: a) baixo nível de consciência sobre os direitos do paciente entre os enfermeiros, b) discrepâncias de conhecimento sobre aspectos específicos dos direitos do paciente, c) baixa prioridade atribuída ao direito do paciente de acessar informações, e d) evidências insuficientes sobre fontes de conhecimento educacionais formais sobre o tema dos direitos do paciente. Conclusão: A localização geográfica estreita, a heterogeneidade e as limitações metodológicas dificultam a generalização das conclusões. Outras pesquisas baseadas em metodologia robusta são propostas.Objetivo: Sintetizar la evidencia actual sobre las actitudes y/o conocimientos de las enfermeras sobre todo el espectro de los derechos del paciente. Método: Se realizó una búsqueda sistemática de la literatura en Web of Science, PubMed, Scopus y CINAHL. Los estudios se seleccionaron de acuerdo con criterios de inclusión/exclusión predefinidos. Se aplicaron las guías Cochrane y PRISMA, incluidas las plantillas para revisiones sistemáticas. Para una evaluación más rigurosa, se emplearon el Critical Appraisal Skills Program Qualitative Research Checklist y la herramienta del Center for Evidence-Based Management. Resultados: Se incluyeron trece estudios, que exhibieron importantes limitaciones metodológicas, como muestreo por conveniencia, tasas de respuesta mediocres y validez inadecuada del instrumento. Los hallazgos indicaron: a) bajo nivel de conciencia sobre los derechos del paciente entre las enfermeras, b) discrepancias de conocimiento sobre aspectos específicos de los derechos del paciente, c) baja prioridad atribuida al derecho del paciente a acceder a la información, y d) evidencia insuficiente sobre fuentes formales de conocimiento educativo sobre el tema de los derechos del paciente. Conclusión: La estrecha localización geográfica, la heterogeneidad y las limitaciones metodológicas dificultan la generalización de las conclusiones. Se propone más investigación basada en una metodología robusta.Objective: To synthesize current evidence on nurses' attitudes and/or knowledge on the entire spectrum of patient rights. Method: A systematic search of the literature was performed in Web of Science, PubMed, Scopus and CINAHL. Studies were selected according to pre-defined inclusion/exclusion criteria. The Cochrane and PRISMA guidelines, including templates for systematic reviews, were applied. For rigor assessment, the Critical Appraisal Skills Program Qualitative Research Checklist, and the Center for Evidence-Based Management tool were employed. Results: Thirteen studies were included, that exhibited important methodological limitations, such as convenience sampling, mediocre response rates and inadequate instrument validity. Findings indicated: a) low level of awareness regarding patient rights among nurses, b) knowledge discrepancies on specific aspects of patient rights, c) low priority ascribed to a patient's right to access information, and d) insufficient evidence on formal educational sources of knowledge on the topic of patient rights. Conclusion: Narrow geographical localization, heterogeneity and methodological limitations render generalizability of the conclusions difficult. Further research based on robust methodology is proposed

Nurses' attitudes and knowledge regarding patient rights: a systematic review

Objective: To synthesize current evidence on nurses’ attitudes and/or knowledge on the entire spectrum of patient rights. Method: A systematic search of the literature was performed in Web of Science, PubMed, Scopus and CINAHL. Studies were selected according to pre-defined inclusion/exclusion criteria. The Cochrane and PRISMA guidelines, including templates for systematic reviews, were applied. For rigor assessment, the Critical Appraisal Skills Program Qualitative Research Checklist, and the Center for Evidence-Based Management tool were employed. Results: Thirteen studies were included, that exhibited important methodological limitations, such as convenience sampling, mediocre response rates and inadequate instrument validity. Findings indicated: a) low level of awareness regarding patient rights among nurses, b) knowledge discrepancies on specific aspects of patient rights, c) low priority ascribed to a patient’s right to access information, and d) insufficient evidence on formal educational sources of knowledge on the topic of patient rights. Conclusion: Narrow geographical localization, heterogeneity and methodological limitations render generalizability of the conclusions difficult. Further research based on robust methodology is proposed