OBJECTIVE: To provide appropriate treatment strategy and precise genetic counseling through studying the phenotype and genotype of a patient featuring learning difficulty and abnormal gait. METHODS: Detailed history taking, physical examination and auxiliary examination (including neuropsychological evaluation, brain imaging and skeletal system X ray) were conducted. The patient was also analyzed by whole exome sequencing, G banding karyotyping and array-based comparative genomic hybridization (aCGH). Multiples ligation-dependent probe amplification (MLPA) was applied to his parents to determine the origin of genomic variation. RESULTS: In addition to obvious dermatological manifestation (Cafe-au-Lait spots), the patient also had facial abnormalities, ocular disorders, skeletal malformations, neurological manifestations, psychiatric and behavioral abnormalities. Whole exome sequencing and G banding karyotyping were both negative. aCGH has identified a microdeletion at 17q11.2, which encompassed the NF1 and neighboring genes. Neither parents has carried the same microdeletion by MLPA analysis. CONCLUSION The patient had a de novo 17q11.2 microdeletion, which probably accounted for his neurofibromatosis type 1-microdeletion syndrome phenotype.

Cancer is the leading cause of death in children. With the development of family participatory care, it has become a trend to use home chemotherapy for children with cancer in stable stages. Therefore, this article introduces the current situation of home chemotherapy medication safety, elaborates on the influencing factors of family chemotherapy medication safety for cancer children from two aspects including oral chemotherapy and intravenous chemotherapy, and proposes intervention measures to optimize the family chemotherapy medication process for cancer children, improve their home chemotherapy medication ability and effectively ensure the medication safety of cancer children.

Objective:To conduct visual analysis of neonatal hospice care based on Web of Science database and explore the research hotspots and frontiers, so as to provide reference for the development of neonatal hospice care in China.Methods:The literatures related to neonatal hospice care included in the core collection of Web of Science from 1991 to 2023 were retrieved and screened. CiteSpace 6.1.R6 was used for visual analysis from the aspects of author, country/region, institution, journal co-citation frequency, keyword knowledge map and so on.Results:A total of 1 452 articles were included, and the number of articles was on the rise. The United States, the United Kingdom and Canada occupied the core position of neonatal hospice care related research. Research hotspots included hospice care for different stages and types of diseases, key links in neonatal intensive care unit hospice care, innovation in neonatal hospice care service models, the needs and psychological support strategies of family members and medical staff. The forefront of research focused on the role and challenges of healthcare professionals in hospice care, disease diagnosis and ethical dilemmas related to decision-making.Conclusions:China can learn from international research hotspots and frontiers to explore the applicability of different hospice service models, enrich research types, strengthen guidance at the level of laws and policies, improve education and training systems and build a neonatal hospice service system that conforms to national conditions and culture in China.

Objective:To construct the evaluation index system of pediatric specialized nurses' core competence, so as to provide a basis for accurate measurement of pediatric specialized nurses' core competence.Methods:A research group was established in August 2021. Based on the quality onion model and literature analysis, a qualitative interview was conducted in September 2021 with 10 provincial and above hospitals pediatric specialist nurses, 5 pediatric nursing managers, 5 pediatric chief physicians and 5 primary caregivers for children selected by objective sampling. From September 2021 to February 2022, questionnaires were sent to 16 experts via email or WeChat for three rounds of Delphi expert consultation. The evaluation indexes of pediatric specialized nurses' core competence were determined according to the authority coefficient, Kendall coordination coefficient, coefficient of variation and other factors.Results:Among three rounds of expert consultation, the effective recovery rates of the questionnaire were all 100.00% (16/16) , and the authority coefficients were 0.813, 0.888 and 0.895, respectively, and the Kendall coordination coefficients were 0.175 (χ 2=289.348, P<0.01) , 0.239 (χ 2=408.131, P<0.01) and 0.288 (χ 2=467.280, P<0.01) , respectively. The final evaluation index system of pediatric specialized nurses' core competence included 6 first level indicators, 18 second level indicators and 84 third level indicators. Conclusions:The evaluation index system of pediatric specialized nurses' core competence is scientific and reliable, which can be used as an effective tool to measure the core competence of pediatric specialized nurses.

Objective:To understand the cognition and attitude of medical staff towards medical ethics review, analyze possible influencing factors, to put forward relevant suggestions for strengthening ethical management in the future.Methods:From November 2021 to May 2022, a self-designed questionnaire and general data questionnaire on the cognition and attitude of medical staff to ethical issues in clinical research were used to investigate 408 medical staff from two first-class ternary hospitals in Hunan Province, data was analyzed to explore the respondents′ cognition and attitude, as well as related influence factors.Results:The average cognitive score of medical staff was 65.41, and the average attitude score was 91.83. Many possible influence actors regarding the cognition were identified, including degree, technical title, professional field, number of clinical research projects engaged as investigators, number of clinical research projects conducted as principle investigators, whether the hospital has established an ethics committee, and research ethics training experiences. While the influence factors of attitude were experiences of conducting and engaging in clinical research, the construction of hospital ethics committee and research ethics trainings.Conclusions:Medical staffs have the willingness to explore more research ethics knowledge, while their cognition of research ethics should be improved. Root-cause analysis should be conducted to identify influencing factors for improvement. The research management department should strengthen the publicity and training of clinical research ethics of medical staff, to improve their clinical research ethics knowledge literacy, and ensure the well-functioning of clinical research ethics review.

Objective:To deeply understand the real emotional experience and needs of the parents of dying newborns, so as to provide a reference for future neonatal palliative care.Methods:From February to October 2021, purposeful sampling was used to select 15 parents of dying newborns in the Department of Neonatology of Hunan Children's Hospital as the research object. A qualitative research design was conducted, and the semi-structured interview method was used to conduct in-depth interviews with the research subjects, and NVivo 10.0 software was used for data analysis.Results:A total of 3 themes were extracted, namely, the ambivalence when giving up treatment, negative life effects after giving up, needs and expectations.Conclusions:Parents of dying newborns generally have ambivalence when they give up treatment. After giving up, they will show emotions such as sadness and helplessness, self-blame and regret, and depression. Understanding the real emotions and inner needs of the parents of dying newborns helps medical and nursing staff to pay attention to parents' negative psychology and understand their needs, and provide parents with targeted psychological support and other care, so as to help the parents of dying newborns and their families through a special period.