Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022.

BACKGROUND: About 70% to 80% of epilepsy cases are related to genetic factors. Genetic research has revealed the genetic etiology and molecular mechanisms of childhood epilepsy, which has increased our understanding of childhood epilepsy. METHODS: We searched the core collection of Web of Science for relevant papers on genetic research on childhood epilepsy published since 2010 on November 30, 2022. In this study, original articles and reviews in English were included. Using CiteSpace and VOSviewer online tools, we conducted a bibliometric analysis of the countries, institutions, journals, co-cited journals, co-cited references, keywords, and research hotspots. RESULTS: We evaluated 2500 literatures on epilepsy genomics in children. Among them, 96 countries published relevant articles, with the United States ranking the most. A total of 389 institutions have contributed relevant publications, and the University of Melbourne has published the most papers. Epilepsy journals were the most commonly cited. The references of papers were clustered into 9 categories: gene testing, epileptic encephalopathy, Dravet syndrome, focal cortical dysplasia, Rolandic epilepsy, copy number variation, ketogenic diet, monogenic epilepsy, and ptt2 mutation. Burst keywords represent the frontier of research, including developmental and epileptic encephalopathy (2021-2022), neurodevelopmental disorders (2020-2022), gene testing (2020-2022), and whole-exome sequencing (2019-2022). CONCLUSION: This study conducted a systematic and objective bibliometric analysis of the literature on epilepsy gene research in children. More importantly, it revealed the hot spot, frontier, and future developmental trends in the field. It will help pediatricians and geneticists further understand the dynamic evolution of genetic research on pediatric epilepsy.

Case report: One child with an autism spectrum disorder who had chronically elevated serum levels of CK and CK-MB.

Some patients with autism spectrum disorder (ASD) exhibit elevated serum creatine kinase levels, which are believed to be associated with mitochondrial dysfunction. Although a few articles have reported this situation in the past and the increase mostly ranges from 100 to 300 U/L, there is a paucity of previous study focusing on the serum creatine kinase MB isoenzyme. This article discusses a 5-year-old girl with ASD, whose serum creatine kinase and creatine kinase MB isoenzyme have been rising for nearly 2 years, fluctuating at 584-993 and 111-625 U/L respectively. Except for behavioral and language symptoms associated with ASD, the child appears normal in other aspects. The child's laboratory tests showed no abnormality, except that the serum levels of lactic acid was slightly higher than normal (1.89 mmol/L, normal 1.33-1.78 mmol/L). The child was prescribed with a traditional Chinese medicine during the process and the serum creatine kinase MB isoenzyme level decreased dramatically to 111 U/L after the treatment. This study firstly recorded the serum creatine kinase levels and the MB isoenzyme in patients with autism spectrum disorder for nearly 2 years, indicating that patients with ASD may experience long-term increases in serum creatine kinase and creatine kinase MB isoenzyme, and that the traditional Chinese medicine decoction Xinfukang can temporarily reduce the serum creatine kinase MB isoenzyme level in patients. Nevertheless, the effect is not sustained. Therefore, it is of great importance to conduct long-term longitudinal studies so as to elucidate the potential mechanism responsible for long-term elevation of serum creatine kinase level.

A bibliometrics analysis and visualization of autism spectrum disorder.

Background: The prevalence of autism spectrum disorder (ASD) increased rapidly in the last 20 years. Although related research has developed rapidly, little is known about its etiology, diagnostic marker, or drug treatment, which forces researchers to review and summarize its development process and look for the future development direction. Methods: We used bibliometrics to analyze papers of ASD in the Web of Science from 1998 to 2021, to draw the network of authors, institutions, countries, and keywords in the ASD field, and visualize the results. Results: A total of 40,597 papers were included with a continually increasing trend. It turns out that the research on ASD is mainly concentrated in universities. The United States has the largest number of ASD studies, followed by England and Canada. The quality of papers related to ASD is generally high, which shows that ASD research has become a hot spot of scientific research. The keywords of ASD etiology and diagnostic markers can be classified into at least 7 aspects. The detection of keywords shows that ASD research is mostly based on its subtypes, takes children as the study population, focuses on neurodevelopmental imaging or genetics, and pays attention to individual differences. And ASD research has changed greatly under the impact of Corona Virus Disease 2019 in the past 2 years. Conclusion: We consider the future development direction should be based on the improvement of case identification, accurate clinical phenotype, large-scale cohort study, the discovery of ASD etiology and diagnostic markers, drug randomized controlled trials, and telehealth.

Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.

As a clinical subtype of SWI/SNF-related intellectual disability syndromes, Nicolaides-Baraitser syndrome (NCBRS, OMIM601358) has a unique genotype-phenotype. Due to the scarcity of the number of cases reported and the limitations of diagnosis methods, so far only more than 80 cases have been reported worldwide. In this article, a new patient with a de novo mutation was followed up for 10 years; it includes the epilepsy treatment process, the characteristics of NBCRS with seizures, typical faces, sparse hair, prominent interphalangeal joints, and intellectual disability, and we also summarized the genotype-phenotype of the 80 reported cases for comparison. Due to insufficient studies and lack of attention paid to the syndrome, it is believed that the actual number of cases should be far more than the reported number. The syndrome is phased and progressive. The genotype-phenotype correlation of the disease is related to the location of the gene locus, especially closely related to the SNF2 ATPase domain. CONCLUSIONS: The understanding of NCBRS is lagging, we need to strengthen the screening process of the phenotypic disease with intellectual disability, and perfecting multiple types of diagnostic techniques will help the discovery of the disease; its clinical features are staged and are slowly progressive, and long-term prognosis must be taken precautious with long-term follow-up required.

Identifying Factors Associated with the Recurrence of Tic Disorders.

Tic disorders are neurological disorders that are prone to fluctuation and recurrence. It is important to study the factors related to disease recurrence and to subsequently provide suggestions for clinical treatment. A retrospective study was conducted to assess patients with recurrent and non-recurring tic disorders diagnosed in the Pediatric Tic Disorder Clinic of the First Affiliated Hospital of Tianjin University of Traditional Chinese Medicine, China, and to extract various factors-such as fetal status; medication, allergy, and family history; social and psychological factors; blood lead content; electroencephalogram (EEG); disease duration; type of tics; and disease severity-and identify factors associated with recurrence. The recurrence rate of tic disorders was approximately 45.10% in this study. The childbirth conditions, surgery/trauma, respiratory tract infection, allergy, stress, consumption of tiapride, and severity of tic disorders were factors related to and affected disease recurrence.

Acupuncture for treating tic disorders in children: A protocol for systematic review and meta-analysis.

BACKGROUND: Tic disorders (TDs) are a group of neurodevelopmental disorders in children, while pharmacotherapy is often associated with various side effects and has limited clinical effects for some patients, thus significantly affecting patients' quality of life. Studies have found acupuncture shows certain advantages in the treatment of TDs. However, there is no high level of evidence evaluating the effectiveness and safety of acupuncture for children with TDs. METHODS: Each data of acupuncture for treating TDs will be searched. We will search for related English and Chinese databases. The time is limited from inception until November 2020. The primary outcome is the reduction rate (amount) of tic severity using related scales or methods, and the secondary outcomes include recurrence rate and adverse events. The risk of bias will be assessed, and the RevMan5.3 and Stata14.0 will be performed for meta-analysis. Finally, we will assess the level of the resulting evidence. RESULTS: The results of the study will synthesize the current evidence and be published in peer-reviewed journals. CONCLUSIONS: This research aims to provide convincing evidence of the effectiveness and safety of acupuncture for treating TDs in children. INPLASY REGISTRATION NUMBER: INPLASY2020110050.

Chinese herbal compounds containing scorpion in the treatment of epilepsy: A protocol for systematic review and meta-analysis.

BACKGROUND: Epilepsy is 1 of the common neurodevelopmental diseases. It can affect about 0.5% to 1.0% of the population regardless of their race and social class. Despite the development of a wide range of treatments, there remaining about one-third of patients still experience seizures. Chinese herbal compounds containing scorpion (CHCCS) have shown an outstanding curative effect on nerve protection and epilepsy. But there's no study to assess its clinical efficacy and safety. METHODS: Each data of CHCCS in treating epilepsy from related English and Chinese databases will be searched. The primary outcome is the efficacy of the CHCCS on epilepsy. And the secondary outcomes include recurrence rate and side effects. The risk of bias will be assessed, and RevMan5.3 and Stata14.0 will be performed for meta-analysis. Finally, we will assess the level of the resulting evidence. RESULTS: The results of the study will be combined with current evidence and published in a peer-reviewed journal. CONCLUSIONS: This study will specifically investigate the effectiveness and safety of CHCCS in treating epilepsy. INPLASY REGISTRATION NUMBER: INPLASY202120056.

[Network Meta-analysis of effect of traditional Chinese medicine injections in adjuvant treatment of mycoplasma pneumonia in children].

To assess the clinical efficacy of traditional Chinese medicine injection for adjuvant treatment of mycoplasma pneumoniae pneumonia in children by network Meta-analysis method. We retrieved CNKI, WanFang, CBM, Cochrane Library, PubMed from the establishment to September 2018. Two reviewers independently screened out literatures, extracted data and assessed the methodological quality of included studies. The data were analyzed by Stata 13.0 software. Totally 89 RCTs were included, involving 8 kinds of traditional Chinese medical injections and 8 936 patients. According to the results of network Meta-analysis, the order by the total effective rate from high to low was Huangqi Injection>Xiyanping Injection>Tanreqing Injection>Compound Danshen Injection>Reduning Injection>Yanhuning Injection>Qingkailing Injection>Xixinnao Injection; the order by cooling time from high to low was Reduning Injection> Yanhuning Injection>Qingkailing Injection>Tanreqing Injection>Huangqi Injection>Xiyanping Injection>Xiexinnao Injection>Compound Danshen Injection; the order by the cough disappeared time from high to low was Compound Danshen Injection>Qingkailing Injection>Xiyanping Injection>Huangqi Injection>Yanhuning Injection>Reduning Injection>Tanreqing Injection>Xixinnao Injection; the order by the rales disappearing time from high to low was Qingkailing Injection>Yanhuning Injection>Reduning Injection>Huangqi Injection>Tanreqing Injection>Xiyanping Injection>Xixinnao Injection. The results show that traditional Chinese medicine injection has a significant clinical efficacy in the adjuvant treatment of various symptoms of mycoplasma pneumoniae pneumonia in children. Due to the small sample size, more studies are required to verify the strength of evidence.

Clinical practices s of Traditional Chinese Medicine for acute upper respiratory tract infection in children.

OBJECTIVE: To develop Clinical practice s of Traditional Chinese Medicine (TCM) for acute upper respiratory tract infection (AURI) in children; TCM is used alone or administered together with antibiotics. METHODS: Under the guidance of evidence-based medicine concept, in strict accordance with the rules of international s development, as well as on the basis of evidence of clinical research of TCM, the s solicited opinions from clinical experts and methodologists in TCM and Western Medicine. GRADE standard was applied to form experts' consensus. RESULTS: The s standardized classification of TCM patterns and TCM treatments in children with AURI, including prescription, Chinese patent medicine, non-drug treatment and prevention. CONCLUSION: Follows the principle of ""evidence based, consensus supplemented, and experience referred"", these s were formulated, but the quality of evidence of included studies were relatively low. Further refinement of the s should be needed as deeper clinical studies as available in future.

[Clinical application evaluation and revision suggestions of clinical practice guideline on traditional Chinese medicine therapy alone or combined with antibiotics for upper respiratory tract infection in children].

Questionnaires and case investigation methods were taken in this paper, taking the clinical practice guideline on traditional Chinese medicine therapy alone or combined with antibiotics for upper respiratory tract infection in children published by the Chinese Medicine Association as the research object. Doctors from 187 hospitals in 29 regions across the country were invited to evaluate the applicability of the Guideline and clinical application effects, so as to collect the opinions on revising the Guideline. Clinicians about 508 accepted the applicability survey of the Guideline, and considered that the structure and content of the Guideline were reasonable, with the proportions being as high as 98.23% and 98.03%, respectively. In the content of syndrome differentiation-based treatment, the factors with higher rationality included therapeutic principle and method (99.41%), diagnosis elements (98.82%), and syndrome differentiation classification (98.03%); while the factors with lower rationality included the rehabilitation and health preserving (97.05%) and complication prevention (97.24%). 98.03% of the clinicians considered theat the Guideline was to be fully applicable and basically applicable, and 1.97% of the clinicians considered it to be applicable after revision. By observing 491 cases, the Guide was applied for evaluation and analysis. The factors with higher compliance included diagnosis of Western medicine disease (100%) and the diagnosis of TCM disease (99.18%); while the factors with lower compliance included the treatment measures, with a compliance rate of 77.18% and 83.05% respectively for simple preparations and other treatment method. The safety and economy of the Guideline were good, 97.35%, 93.89%, respectively. The comprehensive evaluation was good, and 99.41% of the respondents were willing to follow the treatment schemes recommended in the Guideline, suitable for clinical application. The opinions on revision were mainly focused on dialectical treatment, complication prevention and rehabilitation. It indicates that only by actively and extensively soliciting opinions to revise the Guideline, can we improve the quality of the Guideline for clinical practice, so as to raise the level of clinical efficacy.

[A commentary of literature research of traditional Chinese medicine for acute upper respiratory tract infection in children].

Acute upper respiratory tract infection is the most common infectious disease in children's respiratory system. The pathogen to the main virus, can account for more than 90% of the primary upper respiratory tract infectio. However, there is no specific anti-viral drugs specifically for the disease, in addition to the existence of excessive, widespread use or even abuse of antibiotics.Long-term clinical practice has confirmed that Chinese medicine is safe and effective in treating acute upper respiratory tract infection in children. The author reviews the literatures of multiple databases, and analyzes the advantages of Chinese patent medicine in the treatment of acute upper respiratory tract infection in children from the perspective of clinical research and experimental basic research. It also puts forward the existing problems and possible research directions of Chinese patent medicine in the treatment of acute upper respiratory tract infection in children.

Kangxian capsules: Effects on convulsive injuries, N-methyl-d-aspartate (NMDA) receptor subunit expression, and free Ca(2+) concentration in a rat hippocampal neuron epileptic discharge model.

PURPOSE: To investigate the effects and mechanisms of Kangxian (KX) capsules on hippocampal neuron convulsive injuries. METHODS: An epileptic discharge model was prepared with hippocampal neurons and divided into groups that were subjected to control, Mg-free, MK801, or anti-epilepsy (KX) interventions for 6 or 24h. The N-methyl-d-aspartate (NMDA) receptor channel current was recorded with a whole-cell patch-clamp technique, and the decay tau was determined from the receptor channel attenuation. The NMDA receptor subunits (NR1, NR2A, and NR2B) were detected by immunoblot assays, and intracellular free Ca(2+) was detected by laser confocal microscopy. RESULTS: The discharge times (6h: 100.66±36.51min, 24h: 134.42±86.43min) and tau values (6h: 934.0±564.9s, 24h: 846.6±488.0) of the Mg-free group were significantly increased (P<0.05) compared to the control group. All of the groups had similar levels of NR1 expression. NR2A and NR2B expression was significantly decreased in the Mg-free group and significantly increased most in the MK801 group, which was followed by the KX group (P<0.01). The free Ca(2+) concentrations in the control group were lower than those in the MK-801 and KX groups, the concentrations of which were significantly lower than those in the Mg-free group and which decreased with time. CONCLUSION: Kangxian capsules played its antiepileptic and neuroprotective roles via multiple targets and the underlying mechanisms included acceleration of the attenuation time course of NMDA receptor channels, alterations in the expression of NMDA receptor subunits, and reductions in the concentration of intraneuronal Ca(2+).

Efficacy analysis of three-year subcutaneous SQ-standardized specific immunotherapy in house dust mite-allergic children with asthma.

The present study aimed to evaluate the efficacy of three-year subcutaneous SQ-standardized specific immunotherapy (SCIT) in house dust mite (HDM)-allergic children with asthma. Ninety children with allergic asthma to HDMs, with or without allergic rhinitis, were randomly divided into two groups, the treatment group and the control group. The treatment group received SCIT combined with standardized glucocorticoid management and the control group received standardized glucocorticoid management alone for a period of three years. The mean daily dose of inhaled corticosteroids (ICSs), a four-week diary recording the symptom scores of asthma, peak expiratory flow (PEF) measurements, skin prick test results and serum immunoglobulin E (IgE) levels were assessed prior to treatment and following one, two and three years of treatment. The median dose of ICS was reduced in the treatment group after two and three years of treatment compared with that of the control group. After three years of treatment, the discontinuation percentage of ICS in the treatment group was higher than that in the control group. The treatment group demonstrated significantly reduced daytime and night-time asthmatic symptom scores, increased PEF values and reduced serum IgE levels after two and three years of treatment compared with those in the control group (P<0.05). In conclusion, three-year SCIT treatment combined with ICS is an effective immunotherapy for children with allergic asthma and resulted in a reduction of the required ICS dose.

[Therapeutic efficacy of 3-year subcutaneous immunotherapy in asthmatic children allergic to mite].

OBJECTIVE: To evaluate the therapeutic efficacy of 3-year subcutaneous immunotherapy (SCIT) in asthmatic children allergic to mite. METHODS: Ninety asthmatic children allergic to house dust mite (with or without allergic rhinitis) and aged 5-14 years were randomized into SCIT treatment group (n=45) and control group (n=45). The SCIT treatment group received SCIT combined with standardized treatment for asthma, while the control group received the standardized treatment alone. The therapeutic effects were assessed based on the daytime and nighttime symptom scores, mean daily doses of inhaled corticosteroids (ICS), skin prick test results, peak expiratory flows and total serum IgE at baseline and in the 3-year treatment. RESULTS: In both groups, the daytime and nighttime symptom scores in the first, second, and third years of treatment were significantly lower than the baseline values (P<0.01), and the scores decreased year by year during the 3-year treatment (P<0.01). Also, the mean daily doses of ICS in the first, second, and third years of treatment were significantly lower than the baseline values (P<0.01), and the doses decreased year by year during the 3-year treatment (P<0.01). The mean daily dose was significantly lower in the SCIT treatment group than in the control group in the second and third years of treatment (P<0.05). After 3-year treatment, the SCIT treatment group had a significantly higher proportion of children who discontinued use of ICS due to remission of symptoms compared with the control group (29% vs 20%, P<0.05). At the end of the 3-year treatment, the total serum IgE was significantly lower than the baseline value in the SCIT treatment group (P<0.01), and it was significantly lower in the SCIT treatment group than in the control group (P<0.05). CONCLUSIONS: Three-year SCIT is effective in asthmatic children allergic to house dust mite and allows reduction in the dosage of ICS.

[Literature review of application of shenmai injection in special populations (children)].

OBJECTIVE: Analyze the characteristic features of Shenmai injections as used in pediatric clinics, to improve the specifications for use in children in order to decrease risks. METHOD: We preformed statistical analyses on data from the CNKI and VIP databases relevant to the clinical application of Shenmai injections in children. Pediatric indications, usage and dosage, length of treatment, solubility of the drugs in mediums and adverse reactions were summarized. RESULT: Shenmai injection is widely used in clinical pediatrics, and is reported to show effectivenss for conditions such as viral myocarditis, pneumonia, neonatal hypoxic ischemic encephalopathy, neonatal scleroderma, diarrhea and other diseases. However, there are no specific specifications regarding usage and dosages, length of treatments, or instructions regarding solvents. Adverse reactions reported include, drug rash, heat, blushing, and chest tightness amongst others. CONCLUSION: Effective measures should be adopted to standardize the clinical regulations regarding Shenmai injections for use in children, to reduce risks, and thereby raise clinical treatment standards.

[Analysis and countermeasures of adverse drug reactions of traditional Chinese medicine injections in children].

OBJECTIVE: We aimed to analyse the adverse drug reactions (ADR) in children due to traditional Chinese medicine (TCM) injections and the related factors, and explored the rational use of medicines and safty countermeasures in clinical. METHOD: We preformed statistical analyses on data from the CNKI and researched on literatures, from April 1987 to May 2012, relevant to the TCM injections which lead to reactions of clinical adverse, to conduct a analysis of the species, cases, clinical manifestations and related factors of these injections. RESULT: The incidence of ADR in children leaded by TCM injections is high and the manifestations were chiefly characterized by the luscious of skin and appendages. In addition to the correlation with the physiological and pathologic characteristic in childhood, the ADR is also closely related with preparing technology, irrational use and imperfect supervisory system. CONCLUSION: Because of the high incidence, we should taking appropriate measures, such as constructing strict supervision system and strengthening rational drug use, to reduce the occurrence of ADRs to the greatest extent.

[Clinical research of the effect of shengmai injection on the management of "shock heart " after burns].

OBJECTIVE: To investigate the effect of Shengmai injection on the management of "shock heart" after burns. METHODS: Twenty patients with severe burns were enrolled in the study and randomly divided into two groups according to the clinical research method, i.e. treatment group (n= 10, with intravenous infusion of 40 ml Shengmai injection together with 250ml 50 g/L glucose solution for 3 days, 1 time/ per day) and control group(n = 10, with intravenous infusion of 290 ml 50 g/L glucose injection liquid for 3 days, 1 time/per day). Beside the venous line used for routine fluid resuscitation for burn shock, another venous line was set up after hospitalization for the administration of the drug. Blood samples were obtained from the femoral vein in both groups at 12 post-burn hour( PBH) , and on 1, 2, 3, 4 and 5 post burn days (PBD) for the determination of serum contents of creatine kinase-MB (CK-MB), lactate dehydrogenase (LDH) and cardiac troponin I (cTnI). The changes in hepatic and renal function, as well as coagulability were determined before drug infusion and on 1 , 2, 3, 5 and 7 PSDs. RESULTS: The serum content of CK-MB, LDH and cTnI reached the peak at 12 PBH in both groups[ (52+/-20)U/L, (5.9+/-1.3) micromol x s(-1) L(-1), (0. 274+/-0. 231) microg/L in treatment group and [(9+/-31)U/L, (8.5+/-1l.8) micromol x s(-1) x L(-1) , (0. 584+/-0. 192) microg/L in control group]. All of them decreased with the passage of time, but in the treatment group they decreased more markedly within 2 or 3 PBD compared with those in control group ( P < 0.05). CONCLUSION: Early administration of Shengmai intravenously is beneficial to the protection of myocardial cells and in the management of the "shock heart" damage.

Clinical observation on 930 child epilepsy cases treated with anti-epilepsy capsules.

1090 cases of child epilepsy were divided randomly into two groups: the treatment group (930 cases treated with anti-epilepsy capsules) and the control group (160 cases treated with luminal). The results showed that in the treatment group, 534 cases were markedly effective, 241 effective, 96 improved, 46 ineffective, and 13 aggravated, with a total effective rate of 83.33%; while in the control group, 64 cases were markedly effective, 19 effective, 38 improved, 29 ineffective, and 10 aggravated, with a total effective rate of 51.88%. The treatment group showed an obviously higher total effective rate than that in the control group (P < 0.01). After treatment, cases in the two groups all had lower frequency of epilepsy attacks and shorter duration of each attack as compared with that before treatment (P < 0.01), but the situation was obviously better in the treatment group. The anti-epilepsy capsules had very good effect on various types of epilepsy, especially on autonomic epilepsy and on epilepsies due to wind, phlegm, or terror as differentiated in TCM. After treatment, the recovery rate shown by EEG examination was 54.3% in the treatment group, while 38.4% in the control group, the former being obviously higher than the latter (P < 0.01).