1.Advance in ABCA3 gene mutation and related pediatric pulmonary diseases
International Journal of Pediatrics 2022;49(2):114-117
ATP-binding cassette transporter A3(ABCA3) gene mutation is one of the important causes of severe respiratory distress syndrome and interstitial lung disease in children and adults.Clinical phenotypes vary dramatically among patients with ABCA3 mutations.So far, the genotype-phenotype correlation is not entirely clear.The association between the possible factors that influence the phenotypes, such as the environment, infection and diseases remains to be studied.There is no specific treatment for the diseases caused by the mutations.Present models for studying ABCA3 mutations in vitro are still to be improved.This article focuses on reviewing the structure, genetics and the research progress of treatment of ABCA3 gene mutation related pediatric diseases, in order to provide experience and ideas for further researches and treatment of the diseases caused by ABCA3 gene mutation.
2.Preliminary exploration and practical effect on the refinement of the process management of the nursing special project in comprehensive tertiary hospital
Kuo LIANG ; Xi CHEN ; Binru HAN ; Linlin BIAN ; Jingfang YANG ; Yan YIN ; Xinsheng ZHANG ; Xinya WANG ; Zhichen YIN ; Xiuhai GUO
Chinese Journal of Medical Science Research Management 2023;36(5):356-359
Objective:To analyze the preliminary explorations and practical effects of strengthening the process management of nursing special projects in a tertiary general hospital, so as to explore the refined management strategy of hospital projects and provide reference for improving the management level of the research project.Methods:This article takes a series of refined measures taken by the hospital in the process management of nursing special projects from August 2016 to August 2021 as the research example, including setting up subject directions around key disciplines, setting application conditions at different levels, standardizing selection procedures, strengthening mid-term assessments, strictly controlling final acceptance, establishing integrity files, and promoting the transformation of scientific achievements, etc. and these measures are deeply analyzed and discussed.Results:Through a series of measures, the hospital nursing team has significantly improved in terms of research paper publication, patent authorization, approval of projects above the bureau level, and nursing specialties ranking of Chinese hospital Science and Technology Evaluation Metrics (STEM) in the past six years.Conclusions:By strengthening the process management of nursing special research project, the construction level of nursing disciplines has been significantly improved, and the development of nursing disciplines has been greatly promoted.
3.Generation of an induced pluripotent stem cell line from a patient with surfactant metabolism dysfunction carrying ABCA3 mutations
Zhichen TIAN ; Xin XIE ; Jinghan CHI ; Jia CHEN ; Danhua ZHAO ; Yanmei HE ; Xiaojuan YIN
Chinese Journal of Applied Clinical Pediatrics 2024;39(2):98-103
Objective:Induced pluripotent stem cells (iPSCs) cell lines were established using peripheral blood mononuclear cells (PBMCs) from a patient suffering from neonatal respiratory distress syndrome (NRDS) who carried Adenosine triphosphate-binding cassette transporter A3 ( ABCA3) compound heterozygous mutations. Methods:Cell experimental research.Peripheral venous blood was collected and PBMCs were isolated and cultured in vitro. PBMCs were transfected with non-integrated Sendai vector carrying reprogramming factors.The chromosome karyotypes of the established iPSCs were analyzed.Immunofluorescence and flow cytometry were used to detect pluripotency markers of stem cells and verify their differentiation potential.Sanger sequencing was performed to analyze gene mutations.In addition, short tandem repeat (STR) analysis was performed, polymerase chain reaction(PCR) and agarose gel electrophoresis were used to detect virus residual. Results:Karyotype analysis of established iPSCs cell lines showed normal diploid 46, XY karyotype.Immunofluorescence showed positive staining of stem cell pluripotency markers OCT4, SSEA4, Nanog and Sox2.Flow cytometry was used to detected stem cell pluripotency markers and showed expression of TRA-1-60, SSEA-4 and OCT4.After differentiation into all three germ layers, immunofluorescence was performed to detect ectoderm (Pax-6), mesoderm (Brachyury) and endoderm alpha-fetoprotein markers, and the results showed positive staining, which confirmed that the iPSCs had the potential to differentiate.Sanger sequencing showed c. 3997_3998del and c. 3137C>T compound heterozygous mutations.STR analysis showed they originate from PBMCs, and no Sendai virus residual was detected by PCR and agarose gel electrophoresis.Conclusions:In this study, PBMCs from patient carrying ABCA3 compound heterozygous mutations was used to establish iPSCs cell lines.The research lays a foundation for the study of pathogenesis, therapeutic drug screening and cell therapy of NRDS caused by ABCA3 gene mutations.