Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review

Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000–20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of PCD and described the detailed clinical characteristics of the case. A 39-year-old Japanese woman with sinusitis and bronchiectasis without situs inversus had had upper and lower respiratory symptoms since childhood and had received long-term macrolide therapy without an accurate diagnosis. A moderate deterioration of cilia function was observed by high-speed video microscopy analysis; additionally, the number of cells with moving cilia was fewer than that in patients without PCD. Electron microscopy revealed no apparent structural abnormalities. We performedwhole-exome analysis and identified novel biallelic variants of SPEF2 in the homozygous state (c.1860_1861insCT).We confirmed the absence of SPEF2 protein expression in the cilia of the nasal mucosa using fluorescent immunostaining. Accordingly, she was diagnosed as having PCD with the SPEF2 variant. The present case suggests that the deterioration of cilia function is moderate, the number of respiratory cells with moving cilia might be reduced, and the respiratory condition could be severe in patients with PCD with the SPEF2 variant

シンガタ コロナ ウイルス カンセンショウ カクダイカ ニ オケル コウレイシャ ノ シャカイ カツドウ ノ ジッタイ ツウショガタ サービス ノ リヨウシャ ヲ タイショウ ニ シタ シツテキ ケンキュウカラ

【緒言】本研究の目的は、新型コロナウイルス感染症拡大下における高齢者の社会活動の実態を明らかにすることである。【対象と方法】対象者は京都市の通所型サービスを利用する75 歳以上の後期高齢者12 名である。外出自粛の影響によって変化した社会活動について問い、その特徴を質的帰納的に分析した。【結果】困難な社会活動には「家族との関わり」、「知人との対面交流」、「ボランティア活動」の3 つのカテゴリーがあった。しかし、その一方で、取り組めた社会活動には「家族のための活動」、「継続的な知人との交流」、「限定的なボランティア活動」の3 つのカテゴリーがあり、工夫を凝らして取り組みを続けた、あるいは新しく始めた経験が伺えた。また、社会活動を実施できた要因としては「興味関心の有無」、「過去の経験の有無」、「人的環境の有無」、「物的環境の有無」の4 つのカテゴリーが抽出された。【結語】パンデミックの際、高齢者の社会活動の維持および促進のために、高齢者自身の内的要因（興味関心、過去の経験）の把握と、高齢者を取り巻く外的要因（人的環境、物的環境）を調整する重要性が示唆された。Introduction: Social activity is considered to be an important factor in the prevention of care for the elderly. The purpose of this study is to clarify the actual situation of social activities in COVID-19 through qualitative research focusing on the narratives of the elderly. Subjects and Methods: The subjects were 12 elderly people over 75 years old who use a day-care Center in Kyoto City. The subjects were selected from those whose cognitive and physical functions were maintained and who were using day-care services for the purpose of care prevention. Semi-structured interviews were used to qualitatively and inductively analyze the characteristics of social activities in terms of activities that became difficult to carry out and activities that were able to be undertaken due to the effects of the COVID-19 voluntary restraint from going out. Result: From the narratives on social activities in COVID-19, there were three categories of experiences that were difficult: family relations, face-to-face interactions with acquaintances, and volunteer activities. On the other hand, there were three categories of experiences that were implemented: activities for family members, ongoing interaction with acquaintances, and limited volunteer activities, indicating that they continued their efforts with ingenuity or started new ones. There were four categories of factors that enabled the implementation of social activities were identified: interest, past experience, human environment, and physical environment. Conclusion: Due to the prolonged period of voluntary restraint from going out, various changes were observed in the social activities of the elderly. In order to maintain and promote social activities, it is important to focus on understanding the internal factors of the elderly, such as their interests and past experiences, and intervening in the external factors, such as the human and physical environments surrounding them.論文Research Articl

地域在住高齢者において転倒スコアは転倒歴とは独立して生活機能低下を予測する

京都大学0048新制・課程博士博士(社会健康医学)甲第17470号社医博第48号新制||社医||7(附属図書館)30236京都大学大学院医学研究科社会健康医学系専攻(主査)教授 福原 俊一, 教授 中原 俊隆, 教授 川村 孝学位規則第4条第1項該当Doctor of Public HealthKyoto UniversityDA

In vitro antioxidant activity in wines and grape juices

Nas últimas décadas, muita atenção tem sido direcionada ao envolvimento dos radicais livres na patogênese de diversas doenças não transmissíveis; o consumo de antioxidantes é considerado o principal mecanismo de defesa contra o efeito deletério destes radicais. Evidências recentes comprovaram as propriedades antioxidantes dos compostos fenólicos presentes em produtos derivados da uva (Vitis vinifera), como sucos e vinhos, especialmente o vinho tinto. Objetivo. Avaliar a atividade antioxidante de vinhos e sucos de uva brasileiros e quantificar o teor total de compostos fenólicos nestas bebidas, verificando possíveis correlações entre os métodos empregados. Metodologia. Marcas diferentes de vinhos tintos, rosados, brancos e sucos de uva foram submetidos a três testes analíticos in vitro: quantificação de fenólicos totais pelo método de Folin-Ciocalteu, inibição da oxidação lipídica pelo método do tiocianato férrico e avaliação do poder redutor. Resultados. O teor de fenólicos totais, inibição de oxidação lipídica e poder redutor variaram de 297 a 2478 mg/L, 25,75 a 59,66% e 0,087 a 0,751 (densidade ótica, &lambda; = 700 nm) respectivamente. Diferenças significantes (p < 0,05) foram detectadas entre os diferentes tipos e marcas de bebidas. Os vinhos tintos apresentaram os maiores teores de fenólicos e os melhores resultados na avaliação da atividade antioxidante; os rosados apresentaram valores intermediários e os brancos, inferiores. Os teores de fenólicos em sucos de uva foram relativamente altos, porém como antioxidantes não foram tão efetivos quanto os vinhos tintos. Conclusão. Este estudo evidenciou uma forte correlação entre o teor de fenólicos totais e atividade antioxidante, tanto na inibição da oxidação lipídica (r = 0,862) quanto no poder redutor (r = 0,839); entre estes últimos, a correlação foi mais fraca (r = 0,690), sugerindo que o perfil de compostos fenólicos influencia a atividade antioxidante, tanto em termos quantitativos como qualitativos.In the last decades increasing attention has been given to the envolvement of free radicals in the pathogenesis of several non-communicable diseases; the consumption of antioxidants is believed to be the main defense rnechanism against the deleterious effects of these radicals. Recent evidences showed the antioxidant properties of phenolic compounds present in products derived trom grape (Vitis vinifera), as juices and wines, specially red wine. Objective. Evaluate the antioxidant activity of Brazilian wines and grape juices, and quantify the content of total phenolics in these beverages, examining possible correlations between the methods. Methodology. Different brand and types of red, pink and white wines, and grape juices were submitted to three in vitro experiments: quantification of total phenolic compounds by Folin-Ciocalteu method, inhibition of lipid oxidation by ferric thiocianate test, and the evaluation of reducing power. Results. The content of total phenolics, inhibition of lipid oxidation and the reducing power varied from 297 to 2478 mgl L IGAE (gallic acid equivalent), 25,75 to 59,66% and 0,087 to 0,751 (optical density, &lambda; = 700 nm), respectively. Significant differences (p < 0,05) were detected between the samples. The red wines presented the highest contents of phenolics and the best results in the evaluation of antioxidant activity; the pink ones presented intermediate values and the white ones, the lowest. The content of phenolics in grape juices were relatively high, but as antioxidant they were not as effective as the red wines. Conclusion. This study showed a strong correlation between the content of phenolics and antioxidant activity, in the inhibition of lipid oxidation (r = 0,862) as in the reducing power (r = 0,839); between these two last methods, however, the correlation was not significant (r = 0,690), suggesting that the profile of phenolic compounds influence the antioxidant activity, both in quantitative and qualitative aspects

Hypolipidemic and antioxidant effects of grape processing byproducts in hamsters

Introdução: Recentes pesquisas têm indicado o enorme potencial de certas substâncias alimentares, como polifenóis antioxidantes e fibras na redução de riscos de doenças crônicas. O bagaço de uva, subproduto do processamento de vinhos e sucos, representa uma ótima fonte de fibras e antioxidantes naturais de baixo custo. Objetivo: Avaliar o potencial hipolipemiante, antioxidante e sensorial de subprodutos do processamento do vinho e do suco. Métodos: Para avaliar a capacidade antioxidante in vitro, foi utilizado o método do DPPH. O potencial antioxidante e hipolipemiante in vivo foi avaliado mediante ensaio biológico, no qual sessenta hamsters foram divididos em seis grupos diferenciados pelas dietas: controle, hiperlipemiante, extrato de bagaço do vinho (BV), extrato de bagaço do suco (BS), suplementada com BV e suplementada com BS. Amostras de sangue e fígado foram coletadas após 4 semanas de experimento para avaliação do perfil lipídico, capacidade de inibição da oxidação de LDL-colesterol (LDL-c) e atividade das enzimas antioxidantes superóxido dismutase (SOD), catalase (CAT) e glutationa peroxidase (GPx). Para a avaliação sensorial, foram desenvolvidos sorbet e picolé de BV e BS, cujos atributos sensoriais foram avaliados por 43 pessoas aplicando-se o método afetivo de escala hedônica de 9 pontos. Resultados: Extratos de BV e BS apresentaram uma expressiva capacidade antioxidante in vitro. No modelo animal, os grupos tratados com BV e BS apresentaram uma melhora significativa do perfil lipídico e da atividade da enzima CAT, em relação aos grupos controle e hipercolesterolêmico (p<0,05). Com relação aos valores de SOD, GPx e inibição da oxidação de LDL-c, observou-se melhores resultados em relação ao grupo hipercolesterolêmico, embora não significativamente em todos os grupos tratados. Na análise sensorial, somente o picolé de BV não preencheu totalmente os requisitos de aceitação. Conclusão: Os subprodutos de ambas as espécies de uva apresentaram potencial biológico e sensorial para serem utilizados como ingredientes funcionais.Introduction: Recent studies have shown the great potential of certain food components such as antioxidant polyphenols and fiber in reducing the risk of chronic diseases. Grape pomace, a wine and juice processing byproduct, is a low cost material and a very good source of fiber and natural antioxidants. Objectives: To evaluate the hypolipidemic, antioxidant and sensory potential of wine and grape byproducts. Methods: To evaluate the in vitro antioxidant capacity, the DPPH method was used. The in vivo antioxidant and hypolipidemic potential was evaluated through an animal model, in which sixty hamsters were divided into six groups according to their diets: control, hyperlipidemic, wine pomace (WP) extract, juice pomace (JP) extract, WP supplemented diet and JP supplemented diet. Samples of blood and liver were collected after a 4-week experimental period to evaluate the lipid profile, ability to inhibit the LDL-cholesterol (LDL-c) oxidation and antioxidant activity of superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPx) enzymes. For the sensory evaluation, BV and BS sorbet and popsicle were developed, and the sensory attributes were evaluated by 43 tasters according to a 9- point affective hedonic scale. Results: WP and JP extracts showed a very good in vitro antioxidant capacity. In the animal model, both WP and JP treated groups presented a significant improvement in the lipid profile and CAT enzyme antioxidant activity in comparison to hypercholesterolemic and control groups (p <0.05). Regarding the values of SOD, GPx and inhibition of LDL-c oxidation, there values were better when compared to hypercholesterolemic group, even though they were not significant in all treated groups. In the sensory evaluation, only the BV popsicle was not fully accepted. Conclusion: Both grapes byproducts showed a biological and sensory potential to be used as functional ingredients

Hypolipidemic and antioxidant effects of grape processing byproducts in hamsters

Introdução: Recentes pesquisas têm indicado o enorme potencial de certas substâncias alimentares, como polifenóis antioxidantes e fibras na redução de riscos de doenças crônicas. O bagaço de uva, subproduto do processamento de vinhos e sucos, representa uma ótima fonte de fibras e antioxidantes naturais de baixo custo. Objetivo: Avaliar o potencial hipolipemiante, antioxidante e sensorial de subprodutos do processamento do vinho e do suco. Métodos: Para avaliar a capacidade antioxidante in vitro, foi utilizado o método do DPPH. O potencial antioxidante e hipolipemiante in vivo foi avaliado mediante ensaio biológico, no qual sessenta hamsters foram divididos em seis grupos diferenciados pelas dietas: controle, hiperlipemiante, extrato de bagaço do vinho (BV), extrato de bagaço do suco (BS), suplementada com BV e suplementada com BS. Amostras de sangue e fígado foram coletadas após 4 semanas de experimento para avaliação do perfil lipídico, capacidade de inibição da oxidação de LDL-colesterol (LDL-c) e atividade das enzimas antioxidantes superóxido dismutase (SOD), catalase (CAT) e glutationa peroxidase (GPx). Para a avaliação sensorial, foram desenvolvidos sorbet e picolé de BV e BS, cujos atributos sensoriais foram avaliados por 43 pessoas aplicando-se o método afetivo de escala hedônica de 9 pontos. Resultados: Extratos de BV e BS apresentaram uma expressiva capacidade antioxidante in vitro. No modelo animal, os grupos tratados com BV e BS apresentaram uma melhora significativa do perfil lipídico e da atividade da enzima CAT, em relação aos grupos controle e hipercolesterolêmico (p<0,05). Com relação aos valores de SOD, GPx e inibição da oxidação de LDL-c, observou-se melhores resultados em relação ao grupo hipercolesterolêmico, embora não significativamente em todos os grupos tratados. Na análise sensorial, somente o picolé de BV não preencheu totalmente os requisitos de aceitação. Conclusão: Os subprodutos de ambas as espécies de uva apresentaram potencial biológico e sensorial para serem utilizados como ingredientes funcionais.Introduction: Recent studies have shown the great potential of certain food components such as antioxidant polyphenols and fiber in reducing the risk of chronic diseases. Grape pomace, a wine and juice processing byproduct, is a low cost material and a very good source of fiber and natural antioxidants. Objectives: To evaluate the hypolipidemic, antioxidant and sensory potential of wine and grape byproducts. Methods: To evaluate the in vitro antioxidant capacity, the DPPH method was used. The in vivo antioxidant and hypolipidemic potential was evaluated through an animal model, in which sixty hamsters were divided into six groups according to their diets: control, hyperlipidemic, wine pomace (WP) extract, juice pomace (JP) extract, WP supplemented diet and JP supplemented diet. Samples of blood and liver were collected after a 4-week experimental period to evaluate the lipid profile, ability to inhibit the LDL-cholesterol (LDL-c) oxidation and antioxidant activity of superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPx) enzymes. For the sensory evaluation, BV and BS sorbet and popsicle were developed, and the sensory attributes were evaluated by 43 tasters according to a 9- point affective hedonic scale. Results: WP and JP extracts showed a very good in vitro antioxidant capacity. In the animal model, both WP and JP treated groups presented a significant improvement in the lipid profile and CAT enzyme antioxidant activity in comparison to hypercholesterolemic and control groups (p <0.05). Regarding the values of SOD, GPx and inhibition of LDL-c oxidation, there values were better when compared to hypercholesterolemic group, even though they were not significant in all treated groups. In the sensory evaluation, only the BV popsicle was not fully accepted. Conclusion: Both grapes byproducts showed a biological and sensory potential to be used as functional ingredients

The Comparison of Comprehensive Geriatric Functions of Community-Dwelling Elderly People Living in Cotahuasi and Puyca Located in La Union Province, Arequipa, Peru

More than 140 million people worldwide live in over 2500 meters highland above sea level. Of them, 80 million live in Asia, and 35 million live in the Andean mountains. This article described the comparison of the comprehensive geriatric functions of community-dwelling elderly people living in Cotahuasi and Puyca located in La Union Province, Arequipa, Peru. The study population consisted of 240 highlanders (mean age: 69.5, male/female: 85/155) living in Cotahuasi (altitude 2, 600-2, 700 m), Pampamarca (3, 000-3, 300 m), Puyca (3, 600 m), and Churca (3, 800 m). All of these towns are located in La Union Province, Arequipa, Peru. Cotahuasi is the capital of La Union Province, and Pampamarca is a rural suburb. Puyca and Churca are rural villages located at higher altitudes (>3, 500 m) along an upper tributary of the Cotahuasi River. The medical survey of community-dwelling elderly people living in these towns was carried out in August in 2010. The scores in ADL, TMIG, FRI, GDS and subjective QOL between Cotahuasi and Puyca were significant differences. The mean age of subjects in Cotahuasi was significantly higher than those in Puyca. The percentage of subjects with diabetes and taking diabetes medicine were significantly higher in Cotahuasi people than in Puyca ones. The percentage of history of stroke and oseoarthropathy were significantly higher in Cotahuasi than in Puyca. We should pay attention to the approximately 10% of the total population in the world were living in mountain areas where socioeconomic globalization was increasing. Further investigations must remit the prevalence of lifestyle-related disease and human ageing phenomena in highlanders

The postcard intervention against depression among community-dwelling older adults: study protocol for a randomized controlled trial.

[Background]Depression in older adults deteriorates quality of life and increases morbidity, mortality, and medical expenses. Medicine and social policy should work together to decrease this burden. Existing prevention studies are often based on time-consuming psychotherapies, which therefore are not feasible for a wide application at the community level. Postcard interventions have been shown to be effective for patients after hospitalization for major depression, drug overdose, or self-harm. This paper describes the protocol of a pragmatic, randomized controlled trial designed to examine the efficacy of a postcard intervention for depression among community-dwelling individuals aged 65 years or older. [Methods/Design]This is a pragmatic, non-blinded, parallel comparison, randomized controlled trial using Zelen’s design in a community setting. Participants will include community-dwelling older adults (aged 65 years or older) with limited social support (indicated by eating meals alone) and with symptoms of depression (scoring 4 or higher on the 15-item Geriatric Depression Scale (GDS)). The intervention will consist of sending postcards with handwritten messages and seasonal reports from a historical city to participants once a month for eight consecutive months. Self-addressed, stamped envelopes will be enclosed to facilitate non-obligatory replies. Primary outcomes will be changes in the GDS scores that are administered to all elderly inhabitants of the community every year as part of annual health checks. Secondary outcomes include quality of life as measured by a visual analogue scale, and self-rated basic and advanced activities of daily living. We will also examine the subjective sense of effectiveness of the intervention, recollection of the number of intervention mailings received, and the number of mailed replies as the index of the acceptability of the postcard intervention. The time × group interaction for two consecutive years will be analyzed using a generalized linear mixed model. To detect an effect size of 0.5 at alpha error of 0.05 and statistical power of 0.80, 63 participants per group are required. Based on an estimated consent and dropout rate of 70%, a total of 180 subjects will be recruited