Patients with CDH23 mutations and the 1555A > G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)

Conclusions: CDH23 mutations and the 1555A>G mitochondrial mutation were identified among our series of electric acoustic stimulation (EAS) patients, confirming that these genes were important in hearing loss with involvement of high frequency. Successful hearing preservation as well as good outcomes from EAS indicated that patients with this combination of mutations are good candidates for EAS. Objectives: Screening for gene mutations that possibly cause hearing loss involving high frequency was performed to identify the responsible genes in patients with EAS. In addition to a review of the genetic background of the patients with residual hearing loss, the benefit of EAS for patients with particular gene mutations was evaluated. Methods: Eighteen patients (15 late-onset, 3 early-onset) with residual hearing who had received EAS were included in this study. Genetic analysis was performed to identify GJB2, CDH23, SLC26A4, and the 1555 mitochondrial mutations. Results: Three early-onset patients had CDH23 mutations. One late-onset patient had the 1555 A>G mitochondrial mutation.ArticleACTA OTO-LARYNGOLOGICA. 132(4):377-384 (2012)journal articl

Serum Autotaxin Is a Useful Disease Progression Marker in Patients with Primary Biliary Cholangitis

Autotaxin (ATX) is a secreted enzyme metabolized by liver sinusoidal endothelial cells that has been associated with liver fibrosis. We evaluated serum ATX values in 128 treatment-naive, histologically assessed primary biliary cholangitis (PBC) patients and 80 healthy controls for comparisons of clinical parameters in a case-control study. The median ATX concentrations in controls and PBC patients of Nakanuma's stage I, II, III, and IV were 0.70, 0.80, 0.87, 1.03, and 1.70 mg/L, respectively, which increased significantly with disease stage (r = 0.53, P < 0.0001) as confirmed by Scheuer's classification (r = 0.43, P < 0.0001). ATX correlated with Wisteria floribunda agglutinin-positive Mac-2 binding protein (M2BPGi) (r = 0.51, P < 0.0001) and fibrosis index based on four factors (FIB-4) index (r = 0.51, P < 0.0001). While ALP and M2BPGi levels had decreased significantly (both P < 0.001) by 12 months of ursodeoxycholic acid treatment, ATX had not (0.95 to 0.96 mg/L) (P = 0.07). We observed in a longitudinal study that ATX increased significantly (P < 0.00001) over 18 years in an independent group of 29 patients. Patients succumbing to disease-related death showed a significantly higher ATX increase rate (0.05 mg/L/year) than did survivors (0.02 mg/L/year) (P < 0.01). ATX therefore appears useful for assessing disease stage and prognosis in PBC.ArticleSCIENTIFIC REPORTS.8:8159(2018)journal articl

A Study on challenges in Multidisciplinary Collaboration of Young School Nurses ( I ) – Based on Focus Group Interviews with Young School Nurses –

本研究の目的は，若手養護教諭が捉える多職種連携における課題を明らかにし，多職種連携に必要な力を考察することで，養成段階での教育内容を検討するための資料を得ることである。方法は，2023 年１月に勤務経験５年以内の養護教諭８名を対象に，学校現場での多職種連携の現状，多職種連携の問題点や困難，学校組織における養護教諭の存在・役割などに関する項目についてフォーカスグループインタビューを実施した。質的研究手法により分析を行い，22 のサブカテゴリー，「情報共有のために主体的に働きかける力の不足」「介入範囲を自律的に判断する力の不足」「多機関との複雑な連携の経験不足」など10 のカテゴリーにまとめられた。これらの課題から，多職種連携に必要な力として，情報共有を促進するために個人や組織に働きかける力や養護教諭の専門職としての自律性を発揮する力，連携体制の整備と専門職をコーディネートする力が示唆された。This study aims to clarify the challenges encountered by young school nurses in multidisciplinary collaboration, to determine the abilities required for such collaboration, and to assess the curricula at the training stage. Focus group interviews were conducted in January 2023 with eight school nurses with up to 5 years of work experience. The interviews included questions about the present state of multidisciplinary collaboration in schools, problems and difficulties arising in such collaboration, and the role of school nurses in the school system. In the qualitative research analysis, the challenges encountered by young school nurses in multidisciplinary collaboration consisted of 22 subcategories and 10 categories. The categories were “Insufficient ability to actively encourage information sharing,” “Insufficient ability to autonomously determine the scope of intervention,” and “Insufficient experience of complex multiparty collaboration.” These results indicate that multidisciplinary collaboration requires the following: the ability to encourage individuals and organizations to foster information sharing, ability to demonstrate autonomy as a professional school nurse, and ability to develop collaborative systems.departmental bulletin pape