Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

睡眠時無呼吸症候群患者の睡眠に関連した生活習慣の調査

SAS患者は日中の眠気や倦怠感などの疾患に起因する症状を紛らわすために睡眠にとって悪い習慣を取ってしまっている可能性が指摘されている。しかしSAS患者の生活実態は明らかになっていない。そこで本研究はSAS患者の生活習慣の実態を明らかにし、Apnea Hypopnea Index (AHI)、Epworth Sleepiness Scale (ESS)、Pittsburgh Sleep Quality Index (PSQI)、Body Mass Index(BMI)との関連を検討することを目的として行った。方法は質問紙およびAHIのデータをカルテより転載し、分析を行った。対象者は睡眠時無呼吸症候群と診断され治療前の方、56名を対象として行い、回収率は86%であった。AHI、ESS、PSQI、BMIと喫煙、飲酒、カフェインの摂取、睡眠時間などとの関連をみたところ、飲酒とBMIとの間に有意な関連がみられた。また喫煙とPSQIに有意な関連がみられ、睡眠の質が低いと評価している人ほど喫煙本数が多かった。睡眠時間とESSおよび希望睡眠時間と睡眠時間の差とESSの間に相関がみられ、SASによる睡眠障害だけでなく、睡眠時間の不足も問題である可能性があると考えられた。ベッドパートナーの有無が睡眠を阻害する因子になりうる可能性が示唆された。今回の対象者では治療開始前であったが、SASの治療の第一選択であるCPAP療法には家族のサポートも重要である。そのため今後ベッドパートナーの有無がCPAP療法にどのような影響を及ぼすのかについても検討していくことが重要であると考える。It has been pointed out that Sleep Apnea Syndrome (SAS) patients may have adopted life-styles which are poor for their sleep in order to alleviate symptoms that originate in disorders such as sleepiness and fatigue during the day. However, there is no clear evidence of what kind of maladaptive life-styles have been adopted by SAS patients. This research was therefore conducted with the aim of revealing the life-styles of SAS patients, and exploring the relationships between those life-styles and their correlation with the Apnea Hypopnea Index (AHI) data, the Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI) and the Body Mass Index (BMI). It was conducted on 56 pre-treated patients diagnosed with SAS via analysis of questionnaires and AHI data from their medical records. The response-rate was 86%. An analysis of the relationships between the data derived from AHI, ESS, PSQI, and BMI to smoking, alcohol consumption, caffeine intake and sleeping hours showed a significant relationship between alcohol consumption and BMI data. Furthermore, a significant relationship was evident between smoking and PSQI data, with those who evaluated their sleep quality as poor smoking the most. A correlation could also be seen between sleeping time and the ESS data, and the difference between desired hours of sleep and actual sleeping time and the ESS data, indicating that not only sleep disturbance was caused by SAS, but also the lack of sleep time could be a problem. In addition, it was also suggested that the existence of a bed partner could be one factor disturbing sleep. While the subjects of this research had not yet been treated, family support is important to CPAP treatment. For this reason, it will also be essential to study the effect of a bed partner on CPAP treatment in the future

「まちの保健室」における睡眠相談の試み

本研究の目的は、「まちの保健室」を訪れる地域住民の睡眠の実態を調査するとともに、睡眠相談の活動方法を検討することである。研究協力者はH大学「まちの保健室」に来訪した男女102名(平均年齢55.9歳)で、質問紙調査を行った。また、個別睡眠相談を利用した女性17名(平均年齢60.9歳)には、アクチウォッチを用いた個別相談と介入を行いその反応について分析した。得られた結果は以下のとおりである。1)質問紙調査の判定で睡眠が良好だった人は49.0%、要注意の人は21.6%、不眠の疑いがある人は29.4%で、「まちの保健室」に来訪した人の約5割は、睡眠に関して何らかの問題や不満を抱えていた。2)個別睡眠相談来訪者の主な相談内容は、寝つきが悪い、中途覚醒がある、いびき、ほてり、自己の睡眠の測定などで、「不眠の悩みを相談しやすい状況をつくる」、「介入のきっかけの一つとしてアクチウォッチのデータを用いる」、「来訪者と共に生活の仕方を振り返る」、「眠れていることや良い生活習慣等できていることを認める」、「睡眠に関する知識・情報を提供する」などの介入を行った。3)個別睡眠相談を利用した17名のうち7名に、1ヶ月後以降の睡眠や生活の様子について聞き取り調査を行ったところ、「自分の睡眠を知ることによる安心感」、「自分の行動を認める」、「睡眠に対する関心の高まり」などの、視点や考え方の変化がみられた。また、7名中3名には睡眠が改善したという発言があった。睡眠相談は相談に来る人を待つスタイルであるが、今後は集団を対象とした睡眠衛生教育など、より積極的な介入も必要であると考える。「まちの保健室」睡眠相談で、アクチウォッチを用いながら個別の生活に合わせた介入を行うことにより、来訪者の睡眠に対する考え方や生活行動に変化が現れ、睡眠が改善する効果があることが示唆された。The purpose of this study was to investigate the sleep status of the local residents who visited the "Neighborhood Health Station" and to examine the action method used for sleep consultations. The study volunteers consisted of 102 persons (average age: 55.9 years) who visited the "Neighborhood Health Station" established by H University. The investigation was carried out using questionnaires. Seventeen females (average age: 60.9 years) received individual sleep consultations using an Actiwatch and interventions were made. The results were then analyzed. Results 1) According to the questionnaire data, 49.0% were classified as good sleepers; 21.6% as marginal; and 29.4% were suspected of being insomniacs. About 50% of those who visited the "Neighborhood Health Station" had some issues or dissatisfaction with their sleep. 2) The main topics raised by individuals during sleep consultations were their difficulty in falling asleep, waking up in the middle of the night, snoring, hot flashes and also how to get advice on how to monitor their own sleep patterns. We conducted interventions such as a) creating an environment where visitors can freely discuss their insomnia problems, b) making use of the Actigraph\u27s data as one way of initiating intervention, c) examining clients\u27 lifestyles and having them reflect on this with the support of the counselor, d) acknowledging that a good sleep and good life habits are being achieved, and e) providing knowledge and information about sleep". 3) Of 17 visitors who had individual sleep consultations, seven were chosen for further interviews regarding their sleep status and lives at more than one month after the initial consultation. We witnessed changes in the visitors\u27 viewpoints and thinking, such as a) feeling assured by understanding their own sleep, b) acknowledging their own actions, and c) increased interest in sleep. Moreover, three out of the seven claimed that their sleep had improved. These sleep consultations were relied on waiting for clients to simply come in; however, in the future, we think that more active intervention will be necessary, such as conducting sleep health classes for groups. Intervening, in accordance with individual lifestyles by using the Actiwatch at the "Neighborhood Health Station" consultations, suggests that the clients\u27 ideas about sleep and lifestyle were modified and such interventions were effective in improving sleep

「まちの保健室」における骨密度測定実施の試み

地域に根ざした新しい看護提供システムとして「まちの保健室」事業が各地で展開されている。兵庫県看護協会では、兵庫県方式「まちの保健室」を2001年度より立ち上げ20ヶ所の地区で活動を展開している。そこで、本研究は、「まちの保健室」を訪れる地域住民各々に対して健康管理・維持の側面から「まちの保健室」のあり方について検討を行うことを目的とし、超音波法による踵骨骨密度測定と生活習慣等に関する質問紙調査を実施した。研究協力者は240名(男性39名、女性201名)であり、2回以上測定した者は25名であった。調査期間は2002年9月から2003年9月の1年間であった。得られた結果は以下の通りである。1)骨密度が健常群に属する協力者は男女合わせて53.3%であり、女性は40歳代より低骨密度群が出現していた。2)協力者の約7割が自分の骨密度に関心を抱いており、また、協力者のほとんどが自身の健康管理・維持のため等といった理由で定期的な測定を希望していた。3)骨密度と生活習慣との関連では、喫煙と過去の定期的な運動に関して関連を認めた。4)再測定者は25名であり、その約8割は何らかの生活習慣(食生活・運動習慣)に変化が見られた。「まちの保健室」において健康相談の一つとして超音波法による踵骨骨密度測定を実施したことは、住民が自らの骨の状態を認識し、食生活をはじめとした生活習慣を振り返り、見直しを行うきっかけにつながったと考える。したがって、「まちの保健室」は「相談する場」としての機能の他に「自分の健康について振り返り考える場」としての機能が重要であることが示唆された。The "Walk-in Nursing Station" project is being introduced at several locations as a new community nursing system. The Hyogo Nursing Association established the Hyogo "Walk-in Nursing Station" in 2001 and started to provide services in 20 locations in the prefecture. A bone mineral density (BMD) measurement was conducted and a questionnaire survey about lifestyle was given to local residents who visited those walk-in nursing stations. The survey findings are to be the basis for an evaluation of how these stations can serve communities in terms of medical care and the maintenance of good health. Two hundred and forty subjects (39 men and 201 women) participated in the survey, of which 25 respondents were test repeaters. The survey period was one year from September 2002 to September 2003. Major findings are as follows: 1) 53.3% of all respondents had bone density with the "normal" range. Women over 40 had lower density. 2) About 70% of respondents showed some interest in their BMD, and most of them said they would be willing to take regular tests as part of their own self-managed health care. 3) There were correlations between BMD and certain lifestyles, such as smoking and regular exercise. 4) 25 respondents tested their BMD more than once, and about 80% of them initiated certain changes in their lifestyle (diet, regular exercises) after their first tests. It seems that a BMD measurement, one of the health consulting services provided at the "Walk-in Nursing Station," encouraged people to learn about their bone health and examine and change their lifestyle including diet. This suggests that these "Walk-in Nursing Stations" can serve not only as a "health counselling clinic", but, more importantly, also as an "opportunity for people monitor their own health.