A Case of Traumatic Cyclodialysis Followed by Ultrasound Biomicroscopy

We report a case of persistent traumatic cyclodialysis treated bygoniophotocoagulation and observed by ultrasound biomicroscopy (UBM) throughout the course.A 16 year-old male was struck in his right eye by a rocket firework. After the injury,hypotony continued for 4 months and he was referred to Hiroshima University Hospital. Atthat time, the best visual acuity in his right eye was 0.2 and the intraocular pressure was6 mmHg. Three hundred and sixty degrees of cyclodialysis, partial peripheral anteriorsynechia, hypotony maculopathy and subretinal proliferative tissue were observed.Cyclodialysis was obvious by UBM. From 4 months after the injury goniophotocoagulation wasperformed six times in 2 months. Intraocular pressure recovered 6 months after the injuryand reattachment of cyclodialysis and disappearance of the suprachoroidal space wereconfirmed by UBM. UBM was useful in observing cyclodialysis throughout the course

Fatal interstitial pneumonia caused by panitumumab-containing chemotherapy: a case report

A 49-year-old Japanese man visited our institution for the treatment of metastatic rectal cancer. He had no history of interstitial pneumonia or smoking. Although he achieved partial remission with combination chemotherapy consisting of 5-fluorouracil, leucovorin, and oxaliplatin plus bevacizumab, this regimen failed after 46 courses. A salvage chemotherapy consisting of 5-fluorouracil, leucovorin, and irinotecan plus panitumumab was initiated. However, 6 days after treatment initiation, asymptomatic hypoxia was detected. Chest computed tomography revealed interstitial lung disease; therefore, chemotherapy was discontinued and corticosteroid pulse therapy was immediately started. Chest computed tomography on day 20 of the salvage chemotherapy revealed progressive interstitial lesions with lung volume loss and mediastinal emphysema. He passed away a few days later because of respiratory failure. In conclusion, physicians should be aware of the adverse event wherein administration of chemotherapy containing an anti-epidermal growth factor receptor monoclonal antibody might result in a fatal outcome

High-resolution melting curve analysis for rapid detection of mutations in a Medaka TILLING library

<p>Abstract</p> <p>Background</p> <p>During the last two decades, DNA sequencing has led to the identification of numerous genes in key species; however, in most cases, their functions are still unknown. In this situation, reverse genetics is the most suitable method to assign function to a gene. TILLING (Targeting Induced Local Lesions IN Genomes) is a reverse-genetic strategy that combines random chemical mutagenesis with high-throughput discovery of the induced mutations in target genes. The method has been applied to a variety of plant and animal species. Screening of the induced mutations is the most important step in TILLING. Currently, direct sequencing or nuclease-mediated screening of heteroduplexes is widely used for detection of mutations in TILLING. Both methods are useful, but the costs are substantial and turnaround times are relatively long. Thus, there is a need for an alternative method that is of higher throughput and more cost effective.</p> <p>Results</p> <p>In this study, we developed a high resolution melting (HRM) assay and evaluated its effectiveness for screening ENU-induced mutations in a medaka TILLING library. We had previously screened mutations in the <it>p53 </it>gene by direct sequencing. Therefore, we first tested the efficiency of the HRM assay by screening mutations in <it>p53</it>, which indicated that the HRM assay is as useful as direct sequencing. Next, we screened mutations in the <it>atr </it>and <it>atm </it>genes with the HRM assay. Nonsense mutations were identified in each gene, and the phenotypes of these nonsense mutants confirmed their loss-of-function nature.</p> <p>Conclusions</p> <p>These results demonstrate that the HRM assay is useful for screening mutations in TILLING. Furthermore, the phenotype of the obtained mutants indicates that medaka is an excellent animal model for investigating genome stability and gene function, especially when combined with TILLING.</p

ATF6α/β-mediated adjustment of ER chaperone levels is essential for development of the notochord in medaka fish.

ATF6α and ATF6β are membrane-bound transcription factors activated by regulated intramembrane proteolysis in response to endoplasmic reticulum (ER) stress to induce various ER quality control proteins. ATF6α- and ATF6β single-knockout mice develop normally, but ATF6α/β double knockout causes embryonic lethality, the reason for which is unknown. Here we show in medaka fish that ATF6α is primarily responsible for transcriptional induction of the major ER chaperone BiP and that ATF6α/β double knockout, but not ATF6α- or ATF6β single knockout, causes embryonic lethality, as in mice. Analyses of ER stress reporters reveal that ER stress occurs physiologically during medaka early embryonic development, particularly in the brain, otic vesicle, and notochord, resulting in ATF6α- and ATF6β-mediated induction of BiP, and that knockdown of the α1 chain of type VIII collagen reduces such ER stress. The absence of transcriptional induction of several ER chaperones in ATF6α/β double knockout causes more profound ER stress and impaired notochord development, which is partially rescued by overexpression of BiP. Thus ATF6α/β-mediated adjustment of chaperone levels to increased demands in the ER is essential for development of the notochord, which synthesizes and secretes large amounts of extracellular matrix proteins to serve as the body axis before formation of the vertebra

Toward Advanced Nursing Practice along with People-Centered Care Partnership Model for Sustainable Universal Health Coverage and Universal Access to Health

Objective: this study developed a people-centered care (PCC) partnership model for the aging society to address the challenges of social changes affecting people’s health and the new role of advanced practice nurses to sustain universal health coverage. Method: a people-centered care partnership model was developed on the basis of qualitative meta-synthesis of the literature and assessment of 14 related projects. The ongoing projects resulted in individual and social transformation by improving community health literacy and behaviors using people-centered care and enhancing partnership between healthcare providers and community members through advanced practice nurses. Results: people-centered care starts when community members and healthcare providers foreground health and social issues among community members and families. This model tackles these issues, creating new values concerning health and forming a social system that improves quality of life and social support to sustain universal health care through the process of building partnership with communities. Conclusion: a PCC partnership model addresses the challenges of social changes affecting general health and the new role of advanced practice nurses in sustaining UHC.Objetivo: este estudio desarrolló un modelo de alianza para el cuidado centrado en las personas (CCP) para una sociedad envejecida, que haga frente a los retos de los cambios sociales que afectan a la salud de las personas y el nuevo papel de las enfermeras de práctica avanzada para apoyar la cobertura universal de salud. Método: un modelo de alianza para el cuidado centrado en las personas fue desarrollado sobre la base de la meta-síntesis cualitativa de la literatura y la evaluación de 14 proyectos relacionados. Los proyectos en curso dieron lugar a la transformación individual y social mejorando la “alfabetización sanitaria” de la comunidad y los comportamientos, utilizando los cuidados centrados en las personas y aumentando la colaboración entre los profesionales sanitarios y miembros de la comunidad a través de las enfermeras de práctica avanzada. Resultados: el cuidado centrado en las personas comienza cuando los miembros de la comunidad y los profesionales sanitarios ponen en primer plano a la salud y las cuestiones sociales entre los miembros de la comunidad y las familias. Este modelo aborda estas cuestiones, creando nuevos valores relativos a la salud y formando un sistema social que mejora la calidad de vida y el apoyo social para hacer sostenible la atención sanitaria universal a través del proceso de construcción de alianzas con las comunidades. Conclusión: un modelo de alianza para CCP responde a los desafíos de los cambios sociales que afectan a la salud en general y al nuevo papel de las enfermeras de práctica avanzada en el sostenimiento de la Cobertura Universal en Salud (CUS).Objetivo: o estudo desenvolveu um modelo de parceria de cuidados centrados nas pessoas (CCP) para uma sociedade que está envelhecendo, com o fim de enfrentar os desafios das mudanças sociais que afetam a saúde das pessoas e o novo papel da prática avançada de enfermagem para sustentar a cobertura universal de saúde. Método: um modelo de parceria de cuidados centrados nas pessoas foi desenvolvido com base na meta-síntese qualitativa da literatura e a avaliação de 14 projetos relacionados. Os projetos em curso resultaram na transformação individual e social, melhorando a alfabetização de saúde da comunidade e comportamentos que usam o cuidado centrado nas pessoas e aumentando a parceria entre os profissionais de saúde e membros da comunidade por meio da prática avançada de enfermagem. Resultados: o cuidado centrado nas pessoas começa quando os membros da comunidade e os profissionais de saúde colocam em primeiro plano as questões sociais entre os membros da comunidade e das famílias. Esse modelo aborda essas questões, a criação de novos valores relativos à saúde e forma um sistema social que melhora a qualidade de vida e dá apoio social para sustentar o sistema de saúde universal por meio da construção de parcerias com as comunidades. Conclusão: um modelo de parceria CCP aborda os desafios das mudanças sociais que afetam a saúde geral e o novo papel das enfermeiras de prática avançada em sustentar a UHC

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A comprehensive genomic analysis was performed to diagnose more than 400 patients, of which, 13 families (16 cases) had requested prenatal diagnoses. Eight cases diagnosed with wild type homozygous or heterozygous variants same as either of the heterozygous parents continued the pregnancy and delivered healthy babies. Another eight cases were diagnosed with homozygous, compound heterozygous, or hemizygous variants same as the proband. Of these, seven families chose to terminate the pregnancy, while one decided to continue the pregnancy. Neonatal- or infantile-onset mitochondrial diseases show severe phenotypes and lead to lethality. Therefore, such diseases could be candidates for prenatal diagnosis with careful genetic counseling, and prenatal testing could be a viable option for families