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

Probable and "definitive" diagnosis of a formidable disease : Creutzfeldt-Jacob disease

A 75-year-old female with rapidly progressive dementia, pyramidal and extrapyramidal signs, myoclonus, and mutism received a diagnosis of probable sporadic Creutzfeldt-Jakob disease (sCJD) after eliminating other possible candidates, such as normal pressure hydrocephalus (NPH), some form of encephalopathy, and so on. However, postmortem brain biopsy revealed the case to be non-CJD. Facing the triad of progressive dementia, myoclonus, and pyramidal/extrapyramidal features, Alzheimer\u27s disease (AD) should be retrospectively considered if the disease course is long and dementia with Lewy bodies (DLB) is the differential diagnosis if Parkinsonism is present. Findings on electroencephalogram (EEG) or in cerebrospinal fluid (CSF) typical of CJD do not exclude AD or DLB

C-type lectin receptor expression is a hallmark of neutrophils infiltrating the skin in epidermolysis bullosa acquisita

Inflammatory epidermolysis bullosa acquisita (EBA) is characterized by a neutrophilic response to anti-type VII collagen (COL7) antibodies resulting in the development of skin inflammation and blistering. The antibody transfer model of EBA closely mirrors this EBA phenotype.To better understand the changes induced in neutrophils upon recruitment from peripheral blood into lesional skin in EBA, we performed single-cell RNA-sequencing of whole blood and skin dissociate to capture minimally perturbed neutrophils and characterize their transcriptome.Through this approach, we identified clear distinctions between circulating activated neutrophils and intradermal neutrophils. Most strikingly, the gene expression of multiple C-type lectin receptors, which have previously been reported to orchestrate host defense against fungi and select bacteria, were markedly dysregulated. After confirming the upregulation of Clec4n, Clec4d, and Clec4e in experimental EBA as well as in lesional skin from patients with inflammatory EBA, we performed functional studies in globally deficient Clec4e-/- and Clec4d-/- mice as well as in neutrophil-specific Clec4n-/- mice. Deficiency in these genes did not reduce disease in the EBA model.Collectively, our results suggest that while the upregulation of Clec4n, Clec4d, and Clec4e is a hallmark of activated dermal neutrophil populations, their individual contribution to the pathogenesis of EBA is dispensable

Additional file 7 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 7: Table S5. Lookup of all prioritized lipid genes in the Therapeutic Target Database 2022

Additional file 2 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 2: Table S2. Association results for the multi-ancestry index SNPs with the gene prioritization

Additional file 23 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 23: Table S15. Comparison of the sex-specific effects

Additional file 4 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 4: Table S3. Text mining results for the PoPS+ prioritized genes