GATA2 zinc finger 2 mutation found in acute myeloid leukemia impairs myeloid differentiation

AbstractWe identified two novel GATA2 mutations in acute myeloid leukemia (AML). One mutation (p.R308P-GATA2) was a R308P substitution within the zinc finger (ZF)-1 domain, and the other (p.A350_N351ins8-GATA2) was an eight-amino-acid insertion between A350 and N351 residues within the ZF-2 domain. p.R308P-GATA2 did not affect DNA-binding and transcriptional activities, while p.A350_N351ins8-GATA2 reduced them, and impaired G-CSF-induced granulocytic differentiation of 32D cells. Although p.A350_N351ins8-GATA2 did not show a dominant-negative effect over wild-type (Wt)–GATA2 by the reporter assay, it might be involved in the pathophysiology of AML by impairing myeloid differentiation because of little Wt-GATA2 expression in primary AML cells harboring the p.A350_N351ins8 mutation

Nursing support for a patient with an incurable disease and her family, with consideration of their life stage -- Based on support provided for a spinocerebellar degeneration patient and her family during home care --

With prolonged treatment, home-care patients and caregivers experience an age-related decline in physical strength, economic change, and a change in the family structure and relationships. Nurses are required to cope with the needs of the family appropriately in accordance with the changes and stages of the home-care patients and their families. In particular, patients with an incurable neurological disease suffer marked damage that impacts their swallowing and respiratory functions associated with disease progression. Thus, careful observation and support tailored to each stage are necessary. This paper focuses on long-term support for a patient with an incurable disease and discusses nursing tailored to her family\u27s life stage

Research Activities in the Department of Nursing

Research activity at the Department of Nursing is overviewed from the point of research topics, the theme of the projects admitted for grant from the Ministry of Education and Science of Japan, and expected research topics, trying to clarify the needs and challenges of the Department from multilateral aspects in future research activities. The Department of Nursing, Aino University is currently divided into the five areas and further into 12 fields. On the other hand, according to the Scientific Research Grant Program (2015 fiscal year), the research topics in nursing science is subdivided into the five areas; a) basic nursing, b) clinical nursing, c) lifelong developmental nursing, d) elderly nursing, and e) community health nursing

本学看護学部「まちの保健室」に参加する地域住民の健康状態と健康行動

　本学看護学部「まちの保健室」に参加する地域住民の基本属性や参加状況別にみた健康状態および健康行動を明らかにするため、2019 年7 月と8 月の参加者を対象に無記名自記式質問紙調査を行った。基本属性、「まちの保健室」参加状況と、健康状態や健康行動の関係について、Pearson のχ2 検定またはFisher の正確確率検定を用いて分析を行った。参加者の健康状態や健康行動は参加回数や目的等により異なり、健康指標の測定を目的に参加した人は健康のために気をつけていることがある割合やがん検診の受診率が低いこと等が明らかとなった。「まちの保健室」は住民の生活の場である地域で実施しており、自ら相談の場や医療機関、健診や検診にアクセスできない人にもアプローチできる場となっている。より多くの人が関心を持てるよう健康指標の測定等を行い、その後の健康相談により自身の健康に目を向けられる機会とする必要性が示唆された

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

CHD7 mutations account for about 60–65% among more than 200 CHARGE syndrome cases. When rare whole gene deletion cases associated with chromosomal abnormalities are excluded, all mutations of CHD7 reported to date have been point mutations and small deletions and insertions, rather than exonic deletions. To test whether exonic deletions represent a common pathogenic mechanism, we assessed exon copy number by using a recently developed method, the multiplex PCR/liquid chromatography assay (MP/LC). Multiple exons were amplified using unlabeled primers, then separated by ion-pair reversed-phase high-performance liquid chromatography, and quantitated by fluorescence detection using a post-column intercalation dye under the premise that the relative peak intensities for each target directly reflect exon copy number. By using MP/LC, we identified one CHARGE syndrome patient who had a de novo deletion encompassing exons 8–12 among 13 classic CHARGE patients in whom screening by denaturing high-performance liquid chromatography (DHPLC) failed to identify point mutations and small insertions/deletions in CHD7. This is the first CHARGE patient who was documented to have exonic deletion of CHD7. The deletion closely recapitulated the Alu-mediated inactivation of the human CMP-N-acetylneuraminic acid hydroxylase gene (CMP-Neu5Ac hydroxylase), which is regarded as a novel molecular mechanism in the evolution from non-human primates to humans. As demonstrated in this study, MP/LC is a promising method for characterizing exonic deletions, which are largely left unexamined in most routine mutation analysis