A case of Poirier-Bienvenu neurodevelopmental syndrome associated with CSNK2B gene shear variation and literature review / 中华神经科杂志

Objective:To summarize the clinical phenotype and genetic characteristics of Poirier-Bienvenu neurodevelopmental syndrome associated with CSNK2B gene variation. Methods:The clinical and genetic data of a child with Poirier-Bienvenu neurodevelopmental syndrome caused by shear variant of CSNK2B gene who was diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in March 2022 were collected. Previous relevant literature at home and abroad was reviewed to summarize the clinical characteristics of the disease. Results:The child was a girl aged 13 months, mainly due to "intermittent convulsions for 2 months" for consultation. The clinical manifestations of the girl were normal face, generalized tonic-clonic seizures, low intelligence, language and motor retardation, and there was no abnormality in the long-range video electroencephalography and the head magnetic resonance imaging. No abnormality was found in chromosome karyotype analysis and chromosome coefficient of copy variation analysis. The whole exon gene sequencing test indicated that the child carried de novo heterozygous shear variant of CSNK2B gene c.291+5G>C, which had not been reported in the literature. According to the clinical manifestations and genetic examination results of the child, the diagnosis of Poirier-Bienvenu neurodevelopmental syndrome was clear. The CSNK2B gene of the proband′s parents and the twin sister was wild-type. The application of sodium valproate anti-seizure medication could effectively control the seizures of the child, and by giving rehabilitation function training, the child′s language and gross motor function was improved. Conclusions:The Poirier-Bienvenu neurodevelopmental syndrome is a rare autosomal dominant disorder caused by variants in the CSNK2B gene. The clinical manifestations are infancy-onset seizures, intellectual development disorders, language and motor development disorders, etc, and the video electroencephalogram and skull magnetic resonance are mostly normal. The CSNK2B gene shear variant is the genetic etiology of the proband.

Effects of miRNA-373-3p on the proliferation of nephroblastoma cells through targeted regulation of CD44 expression / 肿瘤研究与临床

Objective:To explore the effects of miRNA-373-3p (miR-373-3p) on the proliferation of nephroblastoma G401 cells through targeted regulation of CD44 expression.Methods:Bioinformatic method was used to predict the possible targeted genes of miR-373-3p based on bioinformatic databases including miRDB, miRanda, PITA and DIANA-microT. G401 cells were taken and transfected with miR-373-3p mimic, mimic negative control, miR-373-3p inhibitor or inhibitor negative control, respectively. Cell proliferation ability was detected by using CCK-8 assay. The number of clones was detected by using clone formation assay. The relative expression level of CD44 mRNA was detected by using real-time fluorescent quantitative polymerase chain reaction (qRT-PCR), and the expression level of CD44 protein was detected by using Western blotting. The dual luciferase gene reporter assay was carried out in HEK-293T cells to vertify the target gene of miR-373-3p.Results:Bioinformatic analysis indicated that CD44 was a targeted gene of miR-373-3p. After 24 h transfection, the proliferation activity of G401 cells in miR-373-3p mimic group was decreased compared with that in mimic negative control group (all P < 0.05). After 48 h transfection, the proliferation activity of tumor cells in miR-373-3p inhibitor group was increased compared with that inhibitor negative control group (all P < 0.05). The formed number of clones in miR-373-3p mimic group was reduced compared with that in the mimic negative control group (55.3±2.5 vs. 90.7±2.9), and the difference was statistically significant ( t = 14.57, P < 0.01). The formed number of clones in miR-373-3p inhibitor group was more than that in inhibitor negative control group (115.0±2.7 vs. 92.0±2.4), and the difference was statistically significant ( t = 8.86, P < 0.01). The dual-luciferase gene reporter assay showed that CD44 was a direct targeted gene of miR-373-3p. The relative expression levels of CD44 mRNA in miR-373-3P mimic and mimic negative control group were 0.62±0.03 and 1.00±0.01, respectively, and the difference was statistically significant ( t = 11.28, P < 0.01). The relative expression levels of CD44 mRNA in miR-373-3p inhibitor and inhibitor negative control group were 1.31±0.02 and 1.00±0.00, respectively, and the difference was statistically significant ( t = 12.65, P < 0.01). The CD44 protein expression was decreased in miR-373-3p mimic group, while increased in miR-373-3p inhibitor group. Conclusion:miR-373-3p can inhibit tumor cell proliferation by targeting CD44 in nephroblastoma.

Practice of problem oriented management of hospital′s research expenditure / 中华医院管理杂志

Scientific and reasonable management methods of research expenditure can promote the standardized and orderly development of research work and improve the fund use efficiency. A hospital analyzed the main problems in the management of such expenditure, and began to practice such management based on problems since 2019. By improving the internal control mechanism in terms of the system and process, the hospital took multiple measures to simplify the reimbursement formalities of researchers, dynamically manage the whole process of scientific research projects, and adopted the fund pool management method to allocate hospital′s supporting funds in batches. These measures effectively resolved the main problems and raised the efficiency of fund use.

Subcutaneous panniculitis-like T-cell lymphoma secondary to familial hemophagocytic syndrome: report of one case and review of literature / 白血病·淋巴瘤

Objective:To investigate the clinical characteristics and gene mutations of subcutaneous panniculitis-like T-cell lymphoma (SPTCL) secondary to familial hemophagocytic syndrome (FHL).Methods:The clinical features, disease evolution, gene mutation and genetic characteristics of 1 SPTCL patient secondary to FHL in Henan Children's Hospital in June 2012 were analyzed retrospectively, and the related literatures were reviewed.Results:The UNC13D of FHL patient was homozygous mutation accompanied by STXBP2 heterozygous mutation, while that of his parents and elder brother was heterozygous mutation. After regular chemotherapy with HLH-2004 regimen, the disease relapsed 4 years later, and secondary SPTCL developed after 1 year of remission with the second chemotherapy. After giving SMILE regimen chemotherapy, allogeneic hematopoietic stem cell transplantation was performed, and now the patient had disease-free survival.Conclusions:The detection of related genes in children with hemophagocytic syndrome should be improved in time to confirm the diagnosis of primary disease. FHL can follow SPTCL, and chemotherapy combined with allogeneic hematopoietic stem cell transplantation can be the only method to cure this disease.