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1.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 16-27, 2023.
Article in Chinese | WPRIM | ID: wpr-997653

ABSTRACT

ObjectiveTo explore the therapeutic effect and mechanism of Yiqi Huoxue Tongbian prescription on slow transit constipation (STC) in rats. MethodThe rat model of STC was established by gavage of loperamide hydrochloride. Rats were assigned into control, model, mosapride, low-, medium-, and high-dose (3.51, 7.02, and 14.04 g·kg-1, respectively) Yiqi Huoxue Tongbian prescription groups. The changes of general signs, fecal moisture content, and intestinal propulsion rate were measured after model establishment and drug administration. The colonic mucosal changes were observed by hematoxylin eosin staining. Enzyme-linked immunosorbent assay was employed to determine the content of substance P (SP) and vasoactive intestinal peptide (VIP) in the colon of rats in each group. The gray values of aquaporin (AQP) 3, AQP4, AQP8, and c-Kit in rat colon tissue were measured by immunohistochemistry and Western blot, and the changes of intestinal flora were detected by 16S rRNA high-throughput sequencing. ResultCompared with the model group, 10 days of treatment with Yiqi Huoxue Tongbian prescription increased the fecal moisture content and intestinal propulsion rate (P<0.01). The medium- and high-dose Yiqi Huoxue Tongbian prescription groups and the mosapride group showed no obvious mucosal inflammation and neat arrangement of goblet cells with a large number in the colon tissue. Moreover, the three groups showed increased SP content (P<0.01) and decreased VIP content (P<0.01) in the serum. The medium- and high-dose Yiqi Huoxue Tongbian prescription groups showed down-regulated protein levels of AQP3, AQP4, and AQP8 (P<0.01) and up-regulated protein level of c-Kit (P<0.01). The drug administration groups presented slightly increased observed species, Chao1, ACE, and Shannon, Simpson, and PD whole tree. The principal component analysis showed that the control group had a short distance with the high- and medium-dose Yiqi Huoxue Tongbian prescription groups, indicating that high- and medium-dose Yiqi Huoxue Tongbian prescription can recover the intestinal flora to that in the control group. ConclusionYiqi Huoxue Tongbian prescription can alleviate the defecation status of rats with slow transit constipation by down-regulating the expression of AQP3, AQP4, and AQP8 to reduce the absorption of water in the intestine, up-regulating the expression of c-Kit to increase the number and distribution of Cajal interstitial cells, and regulating the balance of flora in the colon tissue.

2.
Chinese Journal of Practical Nursing ; (36): 631-636, 2023.
Article in Chinese | WPRIM | ID: wpr-990230

ABSTRACT

Objective:To clarify the operational definition of ICU cognitive impairment, so as to provide a reference for accurate assessment of ICU cognitive impairment.Methods:ICU cognitive impairment was conceptually analyzed by the conceptual analysis framework in the Construction Strategy of Nursing Theory (Fifth Edition). The studies about cognitive function of critical illness patients in PubMed, Web of Science, Embase, China National Knowledge Internet, Wanfang, Chinese Biomedical Database, and VIP were searched. The search time limit was from the establishment of the database to August 2021. Literature screening and data extraction were performed independently by two researchers.Results:A total of 5 754 articles were obtained, and 48 articles were finally included. Obtained 20 concepts and 9 commonly used assessment tools related to ICU cognitive impairment. Identifying the defining attributes, conceptual causes, and outcomes of ICU cognitive impairment.Conclusions:The operational definition of ICU cognitive impairment is determined, which is conducive to a comprehensive and intuitive understanding of the concept of cognitive impairment in ICU and accurate evaluation of cognitive impairment in ICU.

3.
Journal of Korean Academy of Nursing ; : 385-396, 2023.
Article in English | WPRIM | ID: wpr-1000967

ABSTRACT

Purpose@#Drawing on person–environment fit theory and social cognitive theory, this study aimed to examine how self-efficacy affects nurses’ workplace well-being via person-job fit and the moderating role of digital competence. @*Methods@#A two-wave survey was conducted to collect data. Data were collected from six hundred and ninety-five nurses at three Chinese hospitals between May 2022 and September 2022. We employed hierarchical regression analysis and bootstrapping to analyze the data. @*Results@#Self-efficacy positively influenced person-job fit (β = .55, p < .001), which positively affected nurses’ workplace well-being (β = .32, p < .001). Person-job fit mediated the effect of self-efficacy on nurses’ workplace well-being. Additionally, digital competence strengthened the positive impact of self-efficacy on person-job fit (β = .12, p < .001). @*Conclusion@#Recruiting nurses with both self-efficacy and digital competence benefits hospitals. It is critical for nurses to improve their digital competence for achieving person-job fit and attaining workplace well-being in the post-coronavirus disease 2019 (COVID-19) era.

4.
Chinese Critical Care Medicine ; (12): 1116-1120, 2022.
Article in Chinese | WPRIM | ID: wpr-956112

ABSTRACT

Post-intensive care syndrome (PICS) is the most common complication in patients discharged from intensive care unit (ICU), which seriously affects the life quality of the patients. At present, there is still lack of standardevaluation methods for PICS. Continuous and dynamic assessment can earlyidentify PICS, moreover, early identification and intervention of PICS can improve the life quality of patients those patients, which is critical to improve the long-term outcome of the patients. In this paper, we reviewed the current research states of evaluation timing, contents, tools and modalities of PICS domestic and abroad, analyzed the problems and prospects of the existing evaluation methods, aiming to provide a reference for clinical staff to effectively and comprehensively evaluate PICS.

5.
Chinese Journal of Endocrine Surgery ; (6): 304-308, 2021.
Article in Chinese | WPRIM | ID: wpr-907797

ABSTRACT

Objective:To investigate the effects of cabazitaxel on lung cancer cell metastasis and proliferation and the related mechanisms.Methods:Lung cancer cells A549 were divided into two groups. The experimental group were cultured with a low concentration of 50 μg/ml cabazitaxel, and the control group were cultured with an equal volume of a solution of cabazitaxel. The proliferation ability of the two groups of cells was examined using CCK8 and plate cloning experiments. The migration ability of A459 cells was verified by transwell and cell scratch experiments. The expression levels of MMP2/9, CDK4/6, and P16 protein were detected by Western blotting.Results:Compared with the control group, the cell proliferation ability of the A549 cell was weakened in the experimental group. The plate clone formation rate of the experimental group was 17.5%±2.3%, and A549 cell clone formation rate of the control group was 74.8%±4.5%. The cloning ability was reduced in the experimental group. Western blot results showed that the expression of CDK4/6 in the experimental group was down-regulated and the expression of P16 was up-regulated. The scratch healing percentage of the cells in the experimental group was 56.2%±3.8%, and the scratch healing percentage of the cells in the control group was 86.8%±5.2%. The scratch healing ability of the cells in the experimental group decreased. The transwell results showed that the experimental group had 35±4 cells per field of view, while it was 78±9 in the control group. The cell migration ability of the experimental group was decreased. Western blot results showed that the expression of MMP2/9 in the experimental group was down-regulated.Conclusion:Cabazitaxel leads to a decrease in the metastasis ability of lung cancer cells A549 through the extracellular matrix pathway, and inhibits cell proliferation by up-regulating P16.

6.
Chinese Journal of Applied Clinical Pediatrics ; (24): 89-93, 2021.
Article in Chinese | WPRIM | ID: wpr-882761

ABSTRACT

Objective:To study the clinical and genetics features of two families with dentatorubral-pallido-luysian atrophy (DRPLA), and to summarize the correlation between genotypes and phenotypes.Methods:The peripheral blood, clinical data and auxiliary examination results of probands and related members in 2 families with hereditary epilepsy and ataxia were collected from July 2018 to March 2019 in Peking University First Hospital.By whole exome sequencing and detecting the cytosine-adenine-guanine (CAG) repeats with capillary electrophoresis and fragment analysis, the genetic testing was conducted on the probands and their family members.The clinical and genetic characteristics of all affected members in the 2 families were also analyzed.Results:Two families were diagnosed with DRPLA.All 11 patients presented with psychomotor retardation, and 7 of them had seizures (including myoclonus, focal seizures and generalized tonic-clonic seizures, etc.). There were significant differences in clinical manifestations among different patients in the same family, and the filial generation had seizures at an earlier age with a more severe phenotype than the parental generation.The youngest onset age was 2 years old, and the largest was 45 years old.Five cases had seizures in childhood.Of the 11 patients, 5 cases were deceased, and the cause of death included seizure attacks, sudden unexpected death in epilepsy (SUDEP) and disease progression.The number of CAG repeat times in the fifth exon of the ATN1 gene were found abnormal in 6 surviving patients.The grandfather of the proband in pedigree 2 had normal clinical manifestations, but he also showed abnormal CAG repeats in the fifth exon of the ATN1 gene, which might be an intermediate allele. Conclusions:DRPLA is mainly featured by epilepsy, ataxia, psychomotor retardation and anticipation in clinical.This disease is rare in children with seizures as the first symptom, and has poor prognosis.An early diagnosis can facilitate genetic counseling.

7.
Chinese Journal of Medical Instrumentation ; (6): 442-445, 2021.
Article in Chinese | WPRIM | ID: wpr-888642

ABSTRACT

The square waves and pulses with obvious porter characteristics are inserted into each different adjacent existing dynamic electrocardiogram data to solve the time-consuming problem in the currently used manual input verification method. The standard database files are converted into analog siginals, then output automatically to the ECG acquisition device according to the sequence of the database files in one time. The data recorded in the acquisition equipment is separated according to the interval data protocol, so as to achieve the purpose of rapid digital examination of dynamic electrocardiogram.


Subject(s)
Humans , Electrocardiography , Heart Rate
8.
Chinese Journal of Pancreatology ; (6): 424-428, 2020.
Article in Chinese | WPRIM | ID: wpr-908791

ABSTRACT

Objective:To investigate the induction of specific T lymphocyte by bispecific monoclonal antibody in pancreatic cancer and its killing effects on KIF20A positive pancreatic cancer PANC1 cell line.Methods:CD 3/KIF20A bispecific monoclonal antibody was prepared and concentrated by chemical cross-linking method and purified by Sephrose-25 gel chromatography. Peripheral blood samples of healthy volunteers were collected, and monocytes were isolated using lymphocyte separation solution, and then cultured as dendritic cells (DC) and T cells respectively, and then co-cultured as DC-T cells. Meanwhile vitamin C was used to treat DC-T cells (vcDC-T cells). The levels of IFN-γ, IL-2, IL-4 and IL-12 in the supernatants and T cell subsets were detected by flow cytometry. About 1×10 5 T cells, DC-T cells, and vcDC-T cells with 10, 50, 100 and 300 ng CD 3/KIF20A antibody loaded were cocultured with PANC1 cells (20∶1) for 2, 6 and 10 hours to determine the highest killing rate dosage of CD 3/KIF20A antibody loaded cells. DC-T cells and DC-T cells, vcDC-T cells loaded with the highest killing rate dosage of CD 3/KIF20A antibody were cocultured with PANC1 cells (20∶1) for 2, 6, 8, 10 and 12 hours. The aggregation effect of effector cells on target cells was observed under inverted microscope, the killing rate of tumor cells was detected by LDH method. Results:The molecular weight of CD 3/KIF20A antibody was 130 000 measured and validated by SDS gel electrophoresis. The ratio of CD 8+ CD 28+ and CD40L subsets of vcDC-T cells was increased [(47.6±15.8)% vs (38.2±7.6)%, (52.1±4.9)% vs (44.7±3.2)% ] compared with that of DC-T cells, the ratio of negative regulatory cells (Treg) was decreased [(4.3±0.8)% vs (8.3±1.1)%]; the release of IL-2, IFN-γ and IL-12 was increased [(201.2±17.3) ng/L, (163.4±13.1)ng/L, (303.3±22.6)ng/L vs 221.8±17.6)ng/L, (190.4±11.7)ng/L vs (80.3±8.6)ng/L]. All the differences were statistically significant ( P<0.01). 100 ng CD 3/KIF20A loaded T cells were observed under microscope, which obviously targeted KIF20A + pancreatic cancer PANC1 cells and had a strongest killing power. At the killing cells to targeting cells ratio of 20∶1 with 4-hour coculture, the killing rate of CD 3/KIF20A-vcDC-T cells on PANC1 cells was (88.6±2.6)%, which was significantly higher than (68.4±3.4)% and (39.2±2.1)% in the CD3/KIF20A-DC-T group and (39.2±2.1)% in the DC-T group, increasing by 20% and at lease 45%, respectively. Conclusions:DC-T cells loaded with CD 3/KIF20A antibody can significantly increase the killing rate of KIF20A positive pancreatic cancer PANC1 cells, and vitamin C intervention can further enhance the killing ability of antibody loaded T cells.

9.
Cancer Research and Clinic ; (6): 489-492, 2020.
Article in Chinese | WPRIM | ID: wpr-872531

ABSTRACT

Objective:To investigate the safety and efficacy of anlotinib in treatment of advanced malignant tumors.Methods:The clinical data of 65 patients with advanced malignant tumors after the failure of the second-line treatment in Shanxi Bethune Hospital from July 2018 to July 2019 were retrospectively analyzed, including 32 cases of non-small cell lung cancer, 12 cases of small cell lung cancer, 15 cases of ovarian cancer, and 6 cases of peritoneal cancer. The objective total remission rate (ORR), disease control rate (DCR), progression-free survival (PFS) time, and the related adverse events were also analyzed.Results:ORR in non-small cell lung cancer group was 43.7% (14/32), DCR was 68.8% (22/32); ORR in small cell lung cancer group was 8.3% (1/12), and DCR was 25.0% (3/12). ORR in ovarian cancer group was 33.3% (5/15), DCR was 73.3% (11/15). In peritoneal carcinoma group, ORR was 0 (0/6) and DCR was 33.3% (2/6). The median PFS time was 8.0 months (95% CI 6.2-9.8 months) in the non-small cell lung cancer group, 3.0 months (95% CI 1.9-4.1 months) in the small cell lung cancer group, 5.0 months (95% CI 3.1-6.9 months) in the ovarian cancer group, and 2.0 months (95% CI 0.0-5.6 months) in the peritoneal cancer group. Hypertension was the most common non-hematology-related adverse event, and there were 6 cases (9.2%) of grade Ⅰ-Ⅱ adverse event and 1 case (1.5%) of grade Ⅲ-Ⅳ adverse event. Among the hematology-related adverse events, thrombocytopenia was the most common, and there were 8 cases (12.3%) of grade Ⅰ-Ⅱ adverse event and 1 case (1.5%) of grade Ⅲ-Ⅳ adverse event. All patients could tolerate the adverse reactions. Conclusion:Anlotinib is one of the options for the treatment of advanced malignant tumors, with mild drug-related adverse reactions and definite efficacy.

10.
Chinese Journal of Perinatal Medicine ; (12): 552-555, 2020.
Article in Chinese | WPRIM | ID: wpr-871100

ABSTRACT

This is a case report of the diagnosis and treatment of atrial flutter with atrial septal aneurysm in a preterm infant. A male neonate born at 35 +2 weeks was delivered by emergent cesarean section due to fetal tachycardia (230-240 bpm) observed during electronic fetal monitoring. The baby was admitted due to tachycardia, tachypnea, and grunting for 15 min after birth. The electrocardiogram demonstrated atrial flutter with the atrial rate of 440 bpm and the ventricular rate of 220 bpm, and 2∶1 atrioventricular conduction. The echocardiography revealed atrial septal aneurysm, patent ductus arteriosus, and patent foramen ovale. Cedilanid and amiodarone were administered firstly. The sinus rhythm was restored after synchronized electrical cardioversion with 4 J (1.8 J/kg). There was no recurrence of atrial flutter during follow-ups till December 18, 2019, with a corrected gestational age of 41 +4 weeks.

11.
Chinese Critical Care Medicine ; (12): 56-61, 2020.
Article in Chinese | WPRIM | ID: wpr-866772

ABSTRACT

Objective:To systematically review the efficacy of ultrasound-guided fluid resuscitation and early goal-directed therapy (EGDT) in patients with septic shock.Methods:Multiple databases including Wanfang, CNKI, SinoMed, VIP, PubMed, Embase, Cochrane Library and Web of Science were searched from initial to August 2019 for randomized controlled trial (RCT) studies about the comparison of ultrasound-guided fluid resuscitation and EGDT on resuscitation effect in patients with septic shock. Language, country and region were unlimited. Data extraction and quality evaluation were carried out by means of independent review and cross check results by two researchers.Results:Finally, only two English RCT studies were enrolled. In the two RCT studies, the ultrasound groups used inferior vena cava collapse index (VCCI) and ultrasound score to guide fluid resuscitation, which resulted in clinical heterogeneity. Because the results could not be pooled, only systematic review, not meta-analysis, could be done. There were measurement bias and selection bias in the two RCT studies, and the literature quality level was B and C respectively. System review results showed that using ultrasound would reduce 7-day mortality (15.0% vs. 35.0%, P = 0.039) and prescribe less of 24-hour intravenous fluids (mL: 900 vs. 1 850, P < 0.01) for patients with septic shock as compared with EGDT. Ultrasound was easy to assess the reactive capacity and cardiac function of patients with septic shock, so as to decrease the incidence of pulmonary edema, which was significantly lower than EGDT (15.0% vs. 37.5%, P = 0.022). However, there was no statistically significant difference in 28-day mortality, duration of mechanical ventilation or length of intensive care unit (ICU) stay between the two groups. Conclusion:The ultrasound-guided fluid resuscitation may be useful and practical for septic shock patients within 7 days after admission as compared with EGDT, but it cannot reduce the 28-day mortality, duration of mechanical ventilation or length of ICU stay.

12.
Chinese Journal of Biotechnology ; (12): 1051-1059, 2020.
Article in Chinese | WPRIM | ID: wpr-826871

ABSTRACT

Neurotransmitters play an important role in nervous system. Temporal and spatial changes of neurotransmitter distribution are crucial to information processing in neural networks. Biosensors that can visually monitor neurotransmitters are one of the vital tools to explore a variety of physiological and pathological activities. This article reviews recent advances in monitoring neurotransmitters with high temporal and spatial resolution, and introduces the latest fluorescent imaging methods for typical neurotransmitters, including glutamate, dopamine, γ-aminobutyric acid and acetylcholine. The article also summarizes the basic principles, advantages and disadvantages of various visually detection methods, and provides systematic suggestions for designing neurotransmitter sensors with high temporal and spatial resolution.


Subject(s)
Animals , Humans , Biosensing Techniques , Fluorescence , Neurotransmitter Agents , Metabolism
13.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1102-1104, 2020.
Article in Chinese | WPRIM | ID: wpr-864170

ABSTRACT

Objective:To summarize the genotypes and phenotypes of children with ALG13 gene related congenital disorders of glycosylation type Ⅰ. Methods:Four epilepsy patients with ALG13 variants visiting the Department of Pediatrics, Peking University First Hospital from January 2016 to July 2019 were included.Their clinical data and gene results were analyzed. Results:There were 1 boy and 3 girls.Three patients had p. N107S variant, and 1 case had p. W112X variant.Two patients inherited the variants from their asymptomatic mother and 2 patients had de novo variants.The seizure began at 3 months to 2 years old.Focal seizure was observed in 1 patient, and epileptic spasms in 2 patients.Focal seizure, tonic seizure and epileptic spasms were observed in 1 patient simultaneously.Three patients were diagnosed with infantile spasms.All patients with ALG13 variants had developmental delay, including autistic-like features in 3 cases, hypotonia in 2 cases, and visual disorders in 1 case.The electroencephalography showed hypsarrhythmia in 3 children, and focal spikes and waves in 1 child, and spasms in 2 children.The brain magnetic resonance imaging showed cerebral atrophy in 1 patient, while the other 3 cases were normal.The last follow-up age was 2 years and 2 months to 4 years and 4 months.Four patients still had frequent seizures after treatment with antiepileptic drugs. Conclusions:ALG13 variants were mainly de novo, and p. N107S is a hot variant.ALG13 gene variations mainly occur to infants, characterized by developmental delay and spasms.Infantile spasm is the most common phenotype.Some patients have autistic-like features, hypotonia, visual disorders and cerebral atrophy.

14.
Chinese Journal of Applied Clinical Pediatrics ; (24): 890-893, 2020.
Article in Chinese | WPRIM | ID: wpr-864135

ABSTRACT

Objective:To follow up and clarify the prognosis of 670 pediatric patients with Dravet syndrome (DS).Methods:The clinical data of DS pediatric patients treated in the Department of Pediatrics, Peking University First Hospital from February 2005 to August 2016 were recorded, and genetic testing was carried out.DS pediatric patients were followed up via subsequent visits at the outpatient and telephone interview.Results:Among 670 cases with DS, 556 cases (556/670 cases, 83.0%) carried SCN1A mutations.In the follow-up, 608 cases were contacted (608/670 cases, 90.7%) and 62 cases (62/670 cases, 9.3%) were lost.The last follow-up median age was 8 years 5 months.Eighty-two cases (82/608 cases, 13.5%) were seizure-free for more than 1 year, with a median age of 9 years and 2 months.Thirty-eight cases relapsed (38/82 cases, 46.3%), mainly induced by fever (34 cases) or mi-ssing antiepileptic drugs (2 cases). Analysis of the relative factors of patients that were seizure-free for more than 1 year showed that children with missense SCN1A mutations, inherited mutations and an older age had a relatively good outcome for seizure control.Twenty-five cases (25/608 cases, 4.1%) were deceased, with a median age of 4 years.The mortality factors included multiple organ dysfunction syndromes after prolonged status epilepticus (12 cases), possible sudden unexpected death in epilepsy (7 cases), asphyxiation after vomiting with or without a seizure (2 cases), and an accidental injury (1 case). The fatal causes in the remaining 3 cases were unknown. Conclusions:DS is an intractable epileptic syndrome, but few patients may have a seizure remission (seizure free for more than 1 year). Patients with mi-ssense SCN1A mutations, inherited mutations and an older age have a relatively good outcome for seizure control.The mortality rate is high in DS patients.The causes of mortality include multiple organ dysfunction syndromes after prolonged status epilepticus, possible sudden unexpected death in epilepsy, and so on.

15.
Chinese Journal of Applied Clinical Pediatrics ; (24): 622-627, 2020.
Article in Chinese | WPRIM | ID: wpr-864067

ABSTRACT

Objective:To summarize the clinical phenotype and gene mutation characteristics of male patients with epilepsy caused by mosaic PCDH19 mutation. Methods:The clinical data of 3 male patients with epilepsy caused by mosaic PCDH19 mutation were analyzed.Microdroplet digital polymerase chain reaction (mDDPCR) was used for the detection of mosaicism in the three probands and their family members.Relevant literatures were reviewed. Results:The seizure onset age were 5 months, 9 months and 6 months of life respectively.Focal seizures occurred in 2 cases and multiple seizure types occurred in 1 case.Three patients presented with clusters of seizures.Fever sensitivity was observed in 2 cases out of the 3 cases.Two patients had intellectual disability and 1 patient had autistic manifestation.The clinical phenotype in 2 patient fulfilled the diagnosis of Dravet syndrome. PCDH19 mosaic mutations c. 317T>A(p.M106K), c.158dupT(p.D54Gfs*35) and c. 1639G>C(p.A547P) were detected respectively, and were identified as de novo after parental validation.Mutant allele fractions (MAF) in the blood samples were identified as 81.18%, 37.08%, 77.64%, respectively.The MAF of multiple tissues in 1 patient varied from 78.67% to 98.46%.Review of literature revealed that a total of 11 cases with mosaic PCDH19 mutation were reported.Among them, seizure onset occurred between 5 and 31 months of age.Focal seizures occurred in 9 cases, 3 cases of the 9 cases had only focal seizures.Generalized tonic clonic seizures occurred in 4 cases.Two or more seizures were observed in 6 cases.Clustering of seizures was found in all patient and sensitivity to fever was observed in 9 patients.Seven patients had mild to severe intellectual disability and 5 patients had autistic features. Conclusions:The clinical phenotypes of male patients with epilepsy caused by PCDH19 mosaic mutation are characterized by clustering of seizures, sensitivity to fever, focal seizures in most cases, varied degree of intellectual disability and autistic features in partial.

16.
Chinese Journal of Pediatrics ; (12): 118-122, 2020.
Article in Chinese | WPRIM | ID: wpr-799311

ABSTRACT

Objective@#To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants.@*Methods@#A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous pathogenic variants by targeted next-generation sequencing were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively.@*Results@#A total of 11 epileptic patients carried GABRA1 gene pathogenic variants, of whom 10 were de novo variants and the other one was inherited from the patient′s mother. Two patients had the same variants. Six variants were novel. Ages at seizure onset ranged from 3 to 14 months, and the median age was 8 months. The seizure was first observed within 1 year in 10 patients and beyond 1 year of age in 1 patient. Multiple seizure types were observed, including focal seizures in 10 patients, generalized tonic clonic seizures (GTCS) in 3 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. There were 5 patients with multiple seizure types. Sensitivity to fever was observed in 9 patients, among whom 6 patients had a history of status epilepticus. Two patients had photoparoxysmal response. Five patients had abnormal EEG background, and 6 patients had abnormal discharges in EEG during interictal phase. Brain magnetic resonance imaging (MRI) was normal in all patients. Developmental delay in various degrees was present in 9 patients. Among the 11 patients, Dravet syndrome was diagnosed in 5 patients, West syndrome in 2 patients, undiagnosed early-onset epileptic encephalopathy in 1 patient, and focal epilepsy in the other 3 patients. The ages at the last follow-up ranged from 8 months to 12 years. During follow-up, 8 patients were seizure-free for 6 months to 8 years, and 1 patient had discontinuation of medication.@*Conclusions@#In epilepsy associated with GABRA1 gene variants, de novo pathogenic variants are more common than inherited. Most epilepsy caused by GABRA1 gene variants occurs in infancy. Most patients have multiple seizures and focal seizures are common. Most patients have a comparatively favorable prognosis, but they may still have varied degrees of developmental delay.

17.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1876-1881, 2019.
Article in Chinese | WPRIM | ID: wpr-803369

ABSTRACT

Objective@#To summarize the clinical phenotype and genotype features of 3 children with progre-ssive myoclonic epilepsy (PME) caused by KCNC1 gene mutations, and to review the related literatures.@*Methods@#The phenotype and genotype of 3 children with KCNC1 mutations in the Department of Pediatrics, Peking University First Hospital from October 2016 to January 2019 were analyzed.The 25 patients with KCNC1 mutations which had been reported internationally were also collected and analyzed.@*Results@#Three children in this study were identified with KCNC1 de novo mutations, in which 2 children were identified with c. 959G>A (p.Arg320His) mutation, and 1 child with c. 1262C>T (p.Ala421Val) mutation.The clinical features of 3 children were consistent with PME, and the seizure onset ages were 3 months, 10 years and 11 years, respectively.Three children all had myoclonic seizures, among whom 1 child had generalized tonic-clonic seizure and 2 children had focal seizures.Three children all had intellectual and/or motor development delay.The electroencephalograph showed generalized spike and waves or polyspike and waves in 3 children, and focal discharge in 2 children.The brain imaging of 3 children was normal.The last follow-up ages were 3 years old, 13 years old and 12 years old, respectively.Until March 2019, there were 25 cases with KCNC1 gene mutations reported internationally.Including 3 patients in this study, there were 28 patients in total, of which 25 patients were diagnosed with PME.In these 25 patients, 24 patients were identified with p. Arg320His variant in the transmembrane area, 1 patient was identified with p. Ala421Val variant in the transmembrane area.The remaining 3 patients were only found with psychomotor developmental delay without seizures, and they were identified with p. Arg339X variant in the intracellular area.In the 28 patients, 16 cases received cranial imaging data, in which 12 patients had ce-rebellar atrophy and 4 cases were normal.Of the 28 patients, 18 cases were mentally retarded, 27 cases were development retardation or retrogression among whom 9 cases could not walk independently.Ten patients were over 30 years old when reported, and only 1 patient died of pneumonia and respiratory failure at 63 years old.@*Conclusions@#KCNC1 gene mutation mainly leads to PME phenotype, and a few patients can only show mental retardation.p.Arg320His is the most common variant of KCNC1 gene.The variants in different structural regions result in different clinical phenotypes, and variants in the transmembrane region can lead to severer clinical phenotypes.The 3 patients with KCNC1 gene mutations in this study are firstly reported cases in China.

18.
Chinese Journal of Practical Nursing ; (36): 1357-1361, 2019.
Article in Chinese | WPRIM | ID: wpr-802920

ABSTRACT

In the past 40 years, the prevalence of diabetes in China has been increasing year by year. The prevention and treatment of diabetes were very arduous. Hierarchical management is not only a major mode of chronic disease management in China, but also a research trend in recent years. The study reviewed the status of hierarchical management of diabetes including tertiary prevention, grading diagnosis and treatment, community grading intervention, diabetic foot ulcer and cardiovascular disease risk grading and management. And summarized the grading management indicators, methods, effects, existing problems and improvement measures. In order to provide a new direction for the development of diabetes management.

19.
Chinese Journal of Pediatrics ; (12): 857-862, 2019.
Article in Chinese | WPRIM | ID: wpr-800738

ABSTRACT

Objective@#To analyze the clinical characteristics of patients with PCDH19-female limited epilepsy (PCDH19-FE).@*Methods@#The clinical data of 60 female epilepsy patients with PCDH19 gene heterozygous variations at the Department of Pediatrics, Peking University First Hospital from October 2007 to December 2018 were collected and analyzed retrospectively, their clinical manifestations, accessory examination and follow-up treatment were summarized.@*Results@#Data of a total of 60 cases of PCDH19-FE were collected. The seizure onset occurred between 4 and 42 months of age (median: 11 months of age). Focal seizures occurred in 47 patients (78%), generalized tonic-clonic seizures (GTCS) occurred in 30 patients (50%), and other rare types of seizures included atypical absence, myoclonic, clonic, tonic, and atonic seizures. Two or more seizures types existed in 24 patients (40%), and seven patients (12%) had attacks of status epilepticus. Sensitivity to fever was observed in 47 out of them (78%) and clustering of seizures as found in all patients. During the interictal phase, focal discharges were monitored in 22 cases (22/45, 49%), multifocal discharges in 12 cases (12/45, 27%), widely discharging in 2 cases (4%), and both focal and widely discharging in 9 cases (20%). Clinical seizures were detected in 30 patients during the electroencephalogram (EEG) recording, including focal seizures in 22 cases, GTCS seizures in 8 cases, tonic seizure in three cases, myoclonic seizure followed by GTCS in one case, and two types of seizures in four cases. Before seizure onset, 57 patients had normal development and three patients had delayed language development. After seizure onset, varied degrees of intelligence disability were present in 38 cases (63%), language delay in 36 cases (60%), and gait instability in 10 cases (17%). Autistic features occurred in 17 cases (28%); and other behavioral problems like learning difficulties, personality, or emotional disorders existed in 33 cases (55%). Age at last follow-up ranged from one year and 3 months to 22 years and 3 months of age, 17 patients (28%) were seizure-free for more than 2 years (5 to 22 years at the last follow-up). The efficiency of antiepileptic drugs were 65% (33/51) in sodium valproate, 63% (27/43) in levetiracetam and 59% (20/34) in topiramate.@*Conclusions@#The clinical features of PCDH19-FE are characterized by clustering of seizures, focal seizures in most cases, sensitivity to fever mostly, focal discharges principally in EEG, varied degrees of intellectual disability or movement disorder, combined with autism spectrum disorders in partial and high efficiency in sodium valproate or levetiracetam treatment.

20.
Chinese Journal of Obstetrics and Gynecology ; (12): 808-814, 2019.
Article in Chinese | WPRIM | ID: wpr-800094

ABSTRACT

Objective@#To evaluate the application of combinatorial probe anchor synthesis (cPAS)-based high-throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage.@*Methods@#From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ-500 high-throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results.@*Results@#In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb).@*Conclusion@#cPAS-based high-throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).

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