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Objective:To analyze the predictive value of serum Nesfatin-1 combined with the Status Epilepticus Severity Scale (STESS) score on the short-term prognosis of children with status epilepticus (SE).Methods:A clinical data of 145 children with SE who were admitted to the Children′s Hospital Affiliated to Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, from January 2016 to January 2020 were analyzed retrospectively.After admission, the serum levels of Nesfatin-1 and the STESS score were measured.According to the Glasgow Outcome Scale (GOS) score at discharge, children with SE were divided into poor prognosis group (<5 scores) and good prognosis group (5 scores). Univariate and multivariate Logisitc regression analyses were performed to analyze influence of the serum Nesfatin-1 level and STESS score on the short-term prognosis of children with SE.Receiver operating characteristic (ROC) curve was depicted to evaluate the predictive value of serum Nesfatin-1 level combined with STESS score in the short-term prognosis of children with SE. Results:Twenty-five cases out of 145 (17.24%) children with SE were discharged with a GOS score of <5 (poor prognosis group), 120 cases were in the good prognosis group.In the poor prognosis group, the overall attack (88.00% vs.66.67%), attack time of SE > 1 h (76.00% vs.27.50%), admission to child intensive care unit(PICU) (76.00% vs.37.50%), implementation of endotracheal intubation (16.00% vs.5.00%), abnormal electroencephalogram(EEG) results (73.91% vs.41.03%), abnormal proportion of head imaging results (82.61% vs.29.49%), serum Nesfatin-1 level[(3.65±1.45) μg/L vs.(2.20±0.77) μg/L] and STESS score[(3.01±0.75) points vs.(1.80±0.60) points] were significantly higher than those in the good prognosis group (all P<0.05). Logistic regression analysis showed that the attack time of SE > 1 h, admission to PICU, abnormal EEG, abnormal proportion of head imaging results, serum Nesfatin-1 level and STESS score were independent risk factors for the poor short-term prognosis of children with SE ( OR=4.217, 3.456, 2.626, 4.109, 3.040 and 2.012, respectively, all P<0.001). The cut-off value of serum Nesfatin-1 level and STESS score was 3.01 μg/L and 2.38 points, respectively.The Youden index and AUC of the combination of serum Nesfatin-1 level and STESS scores were 0.736 and 0.921 (95% CI: 0.861-0.959), respectively, which were better than those of single detection of either serum Nesfatin-1 level [Youden index 0.447; AUC 0.795(95% CI: 0.720-0.858)] or STESS scores [Youden index 0.562; AUC 0.859(95% CI: 0.792-0.911)]. Conclusions:The abnormal increases in serum Nesfatin-1 level and STESS score are risk factors for poor prognosis of SE in children, and their combination has a high predictive value for the poor short-term prognosis.
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Objective:To explore the characteristics of BCR-ABL1 kinase domain mutations in imatinib-resistant chronic myelogenous leukemia (CML) and Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph + ALL) patients from Northeast China and their impact on prognosis. Methods:The clinical data of 252 CML patients and 49 Ph + ALL patients who were admitted to the First Hospital of Jilin University from January 2013 to October 2018 were retrospectively analyzed. The samples of bone marrow or peripheral blood were collected from patients when imatinib treatment was not effective. Nested polymerase chain reaction (PCR) was used to amplify the BCR-ABL1 kinase domain, and Sequencing Analysis v5.4 software was used to analyze the mutation of BCR-ABL1 kinase domain. Patients were followed up for 6-48 months, and the survival analysis was performed. Results:Among 252 CML patients, the mutations in ABL1 kinase domain were found in 57 patients (22.6%), including 25 patients in the chronic phase, 21 patients in the accelerated phase and 11 patients in the blast crisis; 50 patients had 20 types of single point mutation, and the most common mutation types were E255K (16.0%, 8/50), T315I (14.0%, 7/50), M244V (8.0%, 4/50) and G250E (8.0%, 4/50), which were all concentrated in the P-loop and C-helix domains; 7 patients had double mutations; patients with multiple mutations had the worst prognosis, with a median overall survival (OS) time of 3.2 months. Among 49 Ph + ALL patients, 17 cases (34.7%) were positive for mutations in the BCR-ABL1 kinase domain, 14 patients had 12 types of single point mutation, and 3 patients had multiple mutations; the median OS time of patients with multiple mutations, mutations located in the P-loop and C-helix domains and mutations located in the other domains was 2.0, 8.0 and 18.0 months, and the difference in OS among the three groups was statistically significant ( P < 0.01). Conclusions:Among the imatinib-resistant CML and Ph + ALL patients from Northeast China, point mutations in the P-loop and C-helix domains are most commonly found. Multiple mutations, mutations in the P-loop and C-helix domains are related to the poor prognosis of the patients.
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Objective:To investigate the clinical and gene variant characteristics of benign familial infantile epilepsy in generations of three families.Methods:The clinical data of the three benign familial infantile epilepsy patients with PRRT2 gene variant who were diagnosed and their family members were collected from Children′s Hospital Affiliated to Zhengzhou University between 2018 and 2019. All coding exons from the patients and their parents were screened by targeted next-generation sequencing, and detected variants were verified by Sanger sequencing.Results:In all the patients, a cluster of seizures was observed before one year old,but interictal clinical conditions were normal. The electroencephalograms were all normal in interictal stage. The father of proband 1 presented with convulsion onset at the age of eight months and showed remission before one year old. The grandpa, mother and uncle of proband 2 also presented with convulsion onset in their babyhood of life and showed remission before one year old. The mother of proband 3 presented with convulsion onset in their babyhood of life and showed remission before three years old. Proband 1 carried heterozygous c.937G>C variant in the PRRT2 gene which is inherited from his father. Proband 2 carried c.1075_c.1076insC variant inherited from his mother. A deletion of PRRT2 gene exon 2 was detected in both of proband 3 and her mother. The three variants had not been reported in the Human Gene Mutation Database.Conclusions:Benign familial infantile epilepsy is a kind of inherited epilepsy characterized by early onset of seizure in babyhood with better prognosis, a cluster of focal seizures with or without secondary generalization, and cessation of seizure mostly before two or three years of age. The variants c.937G>C, c.1075_c.1076insC and the deletion of exon 2 in the PRRT2 gene have enriched the gene variant spectrum of benign familial infantile epilepsy.
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Objective:To investigate the clinical features, imaging features, treatment options and prognosis of linear scleroderma with central nervous system involvement.Methods:One case of linear scleroderma " en coup de sabre" (LSES) school-age child suffering from dizziness, vomiting and blurred vision was admitted to the Department of Pediatrics, Peking University First Hospital on March 25, 2019.The curative effect was observed after treatment.The relevant literature was searched, and the characteristics of cases and therapeutic effects were reviewed.Results:The clinical features of this case included recurrent and transient dizziness, vomiting, and blurred vision.Cranial imaging indicated abnormal signals in the left frontotemporal lobe white matter, cingulate gyrus, basal ganglia region, and corpus callosum proximal pressure part, multiple soft meningeal line enhancement and abnormal brain substance enhancement on the brain surface in the lesion area.After 2 months of combined treatment with Methotrexate(MTX) and corticosteroids, some symptoms such as dizziness and vomiting disappeared.Three months after the treatment, in the primary cerebral hemisphere and multiple calcifications in the brain parenchyma, the lesions significantly reduced in cranial imaging.The child was followed up for 11 months and displayed no clinical symptoms.New hair was dense at the alopecia area, and skin color, texture and grain were close to normal at the damaged area.In the review of domestic literature, treatment and prognosis were not involved.Foreign literatures reported 5 cases of children, with the first choice of Methylprednisolone being combined with MTX treatment, significant effect was observed, and consistent with the treatment of this case.Conclusions:In order to detect and treat them as early as possible and improve the prognosis, LSES patients should undergo cranial integrity assessment and neurological imaging examination at an early stage, regardless of clinical manifestations of nervous system involvement.
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Objective@#To effectively reduce the concentration of poisons in cleanroom, protect the health of workers, realize the optimization and automatic control of the new return air device. And the influence of initial concentration, air volume, temperature and relative humidity of formaldehyde on the purification effect of the new return air device was explored.@*Methods@#The purification effect of the new return air device installed with the activated carbon and the photocatalyst purification net or ordinary activated carbon purification network was tested in a 60 m3 simulated cleanroom. The concentration of formaldehyde was determined by solution absorption-phenol reagent spectrophotometry. Based on the single factor experiment to determine the combination of two purification nets. The effects of air volume, initial formaldehyde concentration, temperature and relative humidity on the purification effect of the new return air device were investigated by orthogonal test. Then, the performance parameters of the return air device to purify formaldehyde were determined.@*Results@#The formaldehyde purification efficiency of the two types of purification nets in the new return air device was higher than that of the ordinary activated carbon purification network (P<0.05) . The combination of activated carbon and photocatalyst purification net has no effect on the formaldehyde purification efficiency of the return air device (P>0.05) . According to the direct analysis and variance analysis, air volume was the most sensitive factor (F value is 18.894, P<0.05) , followed by initial concentration (F value is 16.128, P<0.05) , while temperature and relative humidity have little effect (F value is 0.041 and 0.599, respectively, P>0.05) . LSD analysis showed that there was no significant difference in the purification efficiency of formaldehyde between 475 m3/h and 626 m3/h (P>0.05) . From the perspective of formaldehyde purification efficiency and energy saving, when the air volume is set to 475 m3/h, the new return air device has higher purification efficiency for high concentration of formaldehyde.@*Conclusion@#The new return air device consisting of activated carbon and photocatalyst purification net can play a good purification role in cleanroom with different temperatures and different humidity. Its formaldehyde purification efficiency is affected by air volume and initial concentration.
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Objective@#To study the effect of activated carbon on the purification of formaldehyde in the clean workshop return air purification device and its influencing factors.@*Methods@#From May to June 2018, choosed 4 different commercial activated carbons (bamboo charcoal, 1-3 mm, 3-5 mm; coconut shell charcoal, 6-12 mesh, 8-16 mesh) to make 5 types of activated carbon purification net. In the simulated clean plant laboratory, the detection of occupational disease hazards was used to test the purification effect of different types of activated carbon purification nets on formaldehyde.@*Results@#The purification effect of different types of activated carbon increased with the prolongation of purification time, and the difference was statistically significant (P<0.05) . Compared with other types of activated carbon, coconut shell charcoal (8-16 mesh, double layer) had the best purification effect, 15 min and 30 min purification efficiency was 58.72% and 85.20% respectively, and the difference was statistically significant (P<0.05) . The purification effect of double-layer coconut shell charcoal was better than single layer (P<0.05) . The purification effect of double-layer coconut shell charcoal (8-16 mesh) was better than double-layer coconut shell charcoal (6-12 mesh) , the difference was statistically significant (P<0.05) . Coconut shell charcoal (8-16 mesh, double layer) had better purification effect than bamboo charcoal (P<0.05) .@*Conclusion@#Different specific surface area, particle size, and thickness of activated carbon have a certain effect on the purification effect of formaldehyde, and its selection has a certain significance in improving the occupational health protection level in the clean plant, solving the safe use of return air and reducing energy consumption.
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Objective To assess language function in children with benign epilepsy with centrotemporal spikes in children(BECTS) and its association with the age of epilepsy onset.Methods We assessed language function in 63 children with BECTS and 30 age and sex matched controls by the subtest of CWISC.Results Children with BECTS performed significantly worse on all language tasks as compared to controls and overall better language function was positively correlated with older age of the child.Early age at seizure onset demonstrated significant negative correlation with language dysfunction,age below 6 years being related to the lowest performance scores(P ＜ 0.05).There was no relationship between the language function and the laterality of epileptic focus,seizure treatment status,or the duration of epilepsy(P ＞ 0.05).There was significant relationship between the language dysfunction and onset age of epilepsy (P ＜ 0.05).Conclusion Children with BECTS have language difficulties that are more pronounced in younger age group.Despite better language functioning in older children with BECTS,their verbal abilities remain inferior to those of children without epilepsy.Early age at seizure onset is a significant factor predicting worse language functioning in children with BECTS.
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Background and purpose:It has been confirmed that homozygous deletion of p16/p15 gene and its co-deletion of p16/p15 genes were related to the occurrence, progress and prognosis of epithelial ovarian cancer. However, the mono-deletion and co-deletion of the genes has been detected with tissue but not in serum DNA of the epithelial ovarian cancer. In this article, we studied the relationship between homozygous deletion of p16/p15 gene and its co-deletion of p16/p15 genes in serum DNA of the epithelial ovarian cancer.Methods:Primers were used to amplify exon 2 of p16 and exon 2 of p15 gene by polymerase chain reaction. Homozygous deletions of the p16, p15 and co-deletion of p16/p15 genes were studied in either serum DNA of 165 patients with epithelial ovarian cancer, their counterpart lymphocytes DNA, serum DNA of 25 benign ovarian cyst or of 15 health donors.Results:The homozygous deletion rates of either p15 or p16 gene were 27.9%(46/165)and 27.3%(45/165)serum DNA in the patients with epithelial ovarian cancer respectively, while the co-deletion rate of p16/p15 genes was 24.2% (40/165). However, the deletions of p15/p16 genes and its co-deletion were not found in serum DNA of the counterpart lymphocytes,25 benign ovarian cyst and 15 health donors (The P values were 0.000、0.000 and 0.000 respectively). The deletions of either p15 or p16 gene for the patients with stage Ⅰ~Ⅱ were 14.3%(5/35) and 11.4%(4/35), 33.3%(25/75) and 32.0%(24/75) for the patients with stage Ⅲ, 29.1%(16/55) and 30.9% (17/55) for stage Ⅳ, respectively. Although there was no significant differences among the groups, the deletion of p15 and p16 genes in the patients with advanced stage were higher than that with early stage. The deletion was not found to be associated with histopathology of epithelial ovarian cancer.Conclusions:Homozygous deletions of the p16, p15 genes and its co-deletion of p15/p16 genes were commonly found in the serum DNA of epithelial ovarian cancer and might be associated with clinical stage of the disease. It was suggested that detection with serum DNA may be used as a micro-invasive approach and the deletion of genes might served as biological markers for the development and prognosis of the patients with epithelial ovarian cancer.
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Carcinogenesis and development of lung cancer are involved in the alteration of biological molecules, including activation of oncogenes, inactivation of suppressor genes, chromosomes aberration and instability of microsatellites. The applications of biological molecules for lung cancer in prevention, diagnosis and treatment are briefly described in this review.
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Objective Investigate the frequency of loss of heterozygosity (LOH) at chromosome arm the short arm chromosome 3p14,25 in the serum DNA from ovarian cancer and its clinical application Methods Thirty eight ovarian cancer serum samples with 18 corresponding tumor tissues and 8 benign ovarian tumors were obtained,and DNA samples extracted from serum and tissue were examined for 3p14,25 LOH by using of polymerase chain reaction with four polymorphic microsatellite markers (D3S1029, D3S1228, D3S1300, D3S1481) Results Matched serum and tissue DNAs from 18 ovarian cancer patients showed significant concordance of 3p14,25 LOH ( P