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Chloride voltage-gated channel, as an important ion channel in living organisms, has many important physiological functions.The gene encoding chloride voltage-gated channel protein is CLCN, which has nine members(CLCN1~7, CLCNKa, and CLCNKb).The CLCN gene variants lead to abnormal expression of chloride channel proteins, which affect the biological activities of neuronal signaling, ion homeostasis, intracellular transport, and lysosomal protein degradation, thereby altering ion channel gating properties, interfering with the normal developmental process of the nervous system, and causing the development of intellectual disability.In recent years, further studies of the CLCN gene have found that the variants in some members of this family are closely related to intellectual disability.This review will discuss the correlation between the chloride voltage-gated channel and intellectual disability.
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Objective:To explore the ability of the Hammersmith Infant Neurological Examination (HINE) to predict the gross motor development of high-risk infants.Methods:A total of 207 high-risk infants were assessed with the HINE and the Gesell Developmental Schedule (GDS) at the ages of 3, 6, 9 and 12 months. They were then divided into a normal development group and a delayed group according to their gross motor development at 12 months old. The validity of the HINE′s discrimination was quantified retrospectively as the difference in the total HINE score at each follow-up month between the two groups. Spearman coefficients relating the total HINE score with the gross motor development quotient from the GDS were calculated at each follow-up month. The HINE′s total score threshold for predicting gross motor retardation at 12 months was determined from a receiver operating characteristics curve, and the predictive validity, sensitivity and specificity were evaluated by calculating the area under the curve.Results:At each time point the average total HINE score of the delayed group was significantly lower than the normal group′s average. The correlation between the HINE total scores and the GDS gross motor development quotients was strongest at 6 months old, and weakest at 3 months. The threshold total HINE score for predicting gross motor retardation at 12 months old was 60 at 3 months, 67 at 6 months, and then 71. The instrument′s sensitivity and specificity were very good at all four time points.Conclusion:The HINE can usefully predict gross motor retardation in the first year of life for high-risk infants. The critical value of the total score can be used as an auxiliary diagnostic reference for neuromotor development in such infants.
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Objective:To observe the effect of oral-facial muscle training applying virtual reality technology (VR) and of action observation therapy on the salivation of children with cerebral palsy (CP).Methods:Sixty CP children with uncontrolled salivation were randomly divided into a control group and an observation group, each of 30. In addition to conventional rehabilitation treatment, the control group received routine tongue muscle training, buccal lip muscle training, ice stimulation, and Masako swallowing training. The observation group received oral-facial muscle training based on action observation therapy in a virtual environment. Both groups were trained 30min per day, 5 times a week for 3 weeks. Before and after the treatment, drooling (DDSS) and swallowing function scores were evaluated. Integrated surface electromyography (iEMG) of the buccinator and orbicularis oris muscles was also performed.Results:After treatment, a significant decrease was observed in the average DDSS and the swallowing function scores of both the control and observation groups, along with a significant increase in the average root mean square values of the buccinator and orbicularis oris iEMGs of both groups. However, the average DDSS score of the observation group was significantly lower than that of the control group, while the average iEMG readings were significantly better.Conclusion:VR-based action observation oral-facial muscle training is a more effective supplement to conventional rehabilitation treatment than conventional oral-facial muscle training in improving the salivation of children with CP.
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Objective:To explore the understanding among medical rehabilitation staff about pain in children with cerebral palsy.Methods:A questionnaire was developed by referring to the literature on children′s rehabilitation and pain. It was used to survey 856 rehabilitation personnel including 110 doctors, 313 therapists and 433 nurses from 12 hospitals in 10 provinces using an online platform at www.wjx.cn.Results:The overall rate of correct responses was (67.89±13.35) %. Doctors and therapists scored about 70% correct and nurses about 65%. There were significant differences in pain knowledge related with educational background, age, work experience and position. Gender, professional title and parent status were not significant predictors. About 93% of those surveyed thought it was necessary to provide pain-related training, and 95% were willing to receive such training.Conclusions:There is a lack of knowledge about pain in children with cerebral palsy among rehabilitation medical staff. It is urgent to provide more related training and guidance to those in clinical practice.
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Objective:To summarize and analyze the clinical and genotype features of female-restricted X-linked syndromic mental retardation-99(MRXS99F, OMIM: 300968)caused by USP9 X gene mutation, and to improve the clinicians′ understanding of the disease. Methods:Clinical data and genotypes of 2 children with MRXS99F treated in the Children′s Hospital of Nanjing Medical University in March 2020 (case 1) and June 2020 (case 2) were analyzed, and the relevant databases at home and abroad were reviewed to summarize the clinical characteristics and gene variation characteristics of the disease.Results:The 2 cases were 6 months old (case 1) and 5 years old (case 2), both showed psychomotor retardation.Case 1 presented a short stature, pigment abnormality, characteristic facial features, hypotonia, recurrent respiratory tract infections, laryngeal cartilage hypoplasia, atrial septal defect, feeding difficulty, hearing loss and brain hypoplasia.Case 2 had abnormal electroencephalogram.As confirmed by whole-exome sequencing, two children carried c. 6972+ 1G>A, c.6437C>T of USP9 X, respectively.Neither of the 2 variations was previously reported.Twenty-two cases of MRXS99F caused by USP9 X gene mutation were reported in 4 literatures globally, and 24 cases were combined with this study.The clinical manifestations of 20/22 children had special faces.All of them accompanied mental retardation combined with motor and language retardation, and carried neonatal variation. Conclusions:This is the first case report of MRXS99F induced by USP9 X gene variation in China.MRXS99F caused by functional deletion and variation of USP9 X gene is mainly characterized by psychomotor retardation, language disorder, special face and multiple congenital malformations.For children with unexplained growth retardation, special face and multiple congenital malformations, genetic testing like high-throughput sequencing should be carried out as early as possible to determine the etiology.
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On?the?premise?of?fully?studying?the?disaster?medical?rescue?monitoring?mechanism?in?emergencies?at?home?and?abroad,?the?functional?requirements?of?the?domestic?disaster?medical?rescue?monitoring?system?was?analyzed?in?this?paper,?the?logical?framework?and?data?structure?of?disaster?medical?rescue?monitoring?system?with?privacy?protection?mechanism?was?designed?by?department?of?emergency?in?Chinese?PLA?General?Hospital,?department?of?information?management?in?School?of?Economics?and?Management?of?Beijing?Jiaotong?University,?the?School?of?Information?Management?of?Nanjing?University.?Three?major?functional?modules?were?realized?in?the?system:?reporter?information?management,?disaster?medical?rescue?data?upload,?and?disaster?medical?rescue?data?search.?Android?client?and?Web?client?were?developed?for?easy?access?to?the?system.?The?system?also?had?the?function?of?privacy?protection.?Based?on?symmetric?searchable?encryption?algorithm,?the?system?realized?the?encryption?storage?of?untrusted?servers?and?ensured?the?security?of?medical?and?health?data.?It?is?beneficial?for?the?further?development?and?improvement?of?disaster?medical?rescue?data?collection?in?China.
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Medical big data is a hot research topic in China,and it is also the main research direction in the field of emergency medicine.The current situation of the construction of the first-aid big data platform and the construction of the first-aid clinical decision support system were analyzed,the problems existing in the development of the first-aid big data research field were enumerated,to explore the theoretical methods for promoting the development of domestic first-aid big data,so as to provide references for the research in related fields.
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Objective The detailed analysis of the surveillance in post extreme emergencies and disasters (SPEED) provides practical reference for China to establish a disaster medical rescue information monitoring system with Chinese characteristics. Methods The SPEED system under the scene of disaster medical rescue information monitoring is analyzed in detail. The SPEED system design, work flows, system implementation and other aspects are analyzed and summarized in this paper, and suggests the enlightenment of SPEED system for Chinese disaster medical rescue information monitoring work. Results The SPEED system is an information monitoring system for the early stages of disasters. It provides monitoring for diseases caused by disasters, and life and health trends. It has a complete data collection mechanism, a comprehensive personnel training system, a complete system function, and an implementation strategy involving multi-layer, multi-region, and multi -sector. It is a powerful tool for disaster medical rescue and management personnel to obtain information in time. In the field of disaster medical rescue, a similar public-facing information monitoring system in China is still not perfect. Conclusion Learning the design flows and establishment mode of the SPEED system can provide reference for China to establish a disaster medical rescue information monitoring system with Chinese characteristics.
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Objective To investigate any protective effect of transplanting EPhrinB2-modified bone marrow mesenchymal stem cells ( BMSCs) with a rat model of cerebral palsy. Methods BMSCs were isolated and cultured, then further modified by lentivirus-mediated transfection of the EPhrinB2 gene. Ninety-six Sprague-Dawley rats were randomly divided into a sham group, a solvent control group ( PBS group) , an empty lentivirus group ( EGFP group) and an EPhrinB2 recombinant lentivirus group ( EPhrinB2 group) , each of 24. A model of cerebral palsy was estab-lished in the rats of the PBS, EGFP and EPhrinB2 groups using hypoxic-ischemic encephalopathy. Seven days after the operation, the lateral ventricles of the PBS, EGFP and EPhrinB2 group mice were injected with phosphate-buff-ered saline solution, BMSCs or EPhrinB2-modified BMSCs respectively. EPhrinB2 protein expression in the hippo-campus was detected using immunohistochemistry 28 days after the operation. The neuron density in the CA1 region of the hippocampus was observed using hematoxylin and eosin staining, and any apoptosis of hippocampal neurons was detected using terminal deoxynucleotidyl transferase dUTP nick end labeling. The expression of nestin and CD31 in the hippocampus was observed using immunofluorescence assays. Morris water maze testing was also conducted to e-valuate changes in learning and memory ability. Results Compared with the other 3 groups, a significant increase in the expression of protein EPhrinB2 was observed in the hippocampuses of the EPhrinB2 group rats. The pathologi-cal changes in the hippocampus among the EPhrinB2 group were significantly less severe than those in the PBS and EGFP groups. The rate of apoptosis in the hippocampuses of the EPhrinB2 group was significantly lower than that of the other groups. Immunofluorescence showed that nestin- and CD31-positive cells were significantly more numerous in the EPhrinB2 group than in the others. In the water maze the average latency of the EPhrinB2 group was signifi-cantly shorter than those of the other groups. Conclusion Lentiviral-mediated EPhrinb2 transfection of BMSCs into the hippocampus can promote EPhrinB2 gene expression, promote angiogenesis and neuron differentiation, inhibit ap-optosis and accelerate the repair of injured nerves.
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Objective To observe the effect of supplementing constraint-induced movement therapy (CIMT) with virtual reality games in rehabilitating the motor function of hemiplegic children with cerebral palsy (CP).Methods Fifty hemiplegic children with CP were randomly divided into a control group and a treatment group,each of 25.All were given conventional rehabilitation.The children in the control group received CIMT for 4 hours,plus 1 hour of occupational therapy for the more-affected limb supported by therapists and 3 hours of daily training in life activities with their guardians' help.Those in the treatment group received occupational therapy for 1 hour,played virtual reality games for 1 hour and practiced daily life activities for 2 hours per day.All of the treatments were carried out five days a week for 3 weeks.Before and after the intervention the quality of upper extremity skills test (QUEST),the Chinese version of the gross motor function measuring scale (GMFM) and the pediatric evaluation of disability inventory (PEDI) were used to evaluate upper limb function,gross motor function and the social abilities.Results After the treatment,significant improvement was observed in the average QUEST,GMFM and PEDI scores of both groups,but the average scores in the treatment group were significantly higher than among the controls.Conclusions CIMT combined with playing virtual reality games improves the motor function and social abilities of hemiplegic children with CP.
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Objective To observe the effects of transcranial ultrasound (TU) therapy on balance function and walking ability in children with dyskinetic cerebral palsy (CP). Methods From June, 2015 to February, 2016, 51 children with dyskinetic CP were randomly divided in-to control group (n=25) and TU group (n=26). All the children accepted routine rehabilitation, while TU group accepted TU in addition, 1.2 W/cm2 for 20 minutes per day, 5 times a week, for three weeks. They were evaluated with Pediatric Balance Scale (PBS), walking speed, step length and step width with footprint analysis before and after intervention. Results The PBS score, step length and walking speed im-proved in both groups after intervention (Z>4.112, t>3.338, P2.038, P<0.05). Conclusion TU therapy can improve balance function and walking ability in children with dyskinetic CP.
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Objective To explore the clinical features and the gene mutations in MECP 2 duplication syndrome. Methods The clinical data of a child with developmental retardation and hypophrenia accompanied with respiratory tract infection was analyzed retrospectively. Microarray analysis technique was used to detect the genes in the patient and his family. The pertinent literature was reviewed. Results A 1-year and 7-month old boy was found to have hypotonia, developmental delay, and recurrent respiratory tract infections after birth. Microarray analysis showed a duplication of 441.88kb in Xq28 area and diagnosis of MECP2 duplication syndrome was confirmed. His grandmother, mother, and two aunts were found duplication of 441.73-441.88kb in Xq28 area, all of whom were MECP2’s female carrier. Conclusions The improvement of chromosome chip technology inspection is helpful to the early diagnosis of MECP2 duplication syndrome.
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Objective To explore the effects of transcranial ultrasound (TU) on the sensory functioning of children with cerebral palsy (CP).Methods Sixty-seven children with CP were randomly divided into a TU group (n =33) and a control group (n =34).All of the children were given conventional rehabilitative treatment, but the children in the TU group also received TU stimulation at 1.2 W/cm2 for 20 min daily, 5 times a week.All the treatments continued for 3 weeks in both groups.Before and after the intervention, the latencies and amplitudes of N20 and P37 were recorded and the escape reflex threshold was measured using the Von-Frey method.Results Before the treatment there were no significant differences between the two groups.After the 3 weeks of treatment, significant differences were observed in the N20 and P37 amplitudes, but not in the latencies in the control group.In TU group, however, the N20 and P37 latencies were significantly shorter and the amplitudes were significantly improved after the treatment.So significant inter-group differences were found in terms of N20 latency and both N20 and P37 amplitude after the treatment.The average escape reflex threshold in the TU group was significantly lower than before treatment, but not significantly different from the control group's average.Conclusions Transcranial ultrasound can effectively shorten the latencies and increase the amplitudes of somatosensory evoked potentials, suggesting that it can improve somatosensory functioning in children with CP.
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Objective To explore the prevalence of anxiety and depression among the medical staff of a children's hospital, and to understand their relationship with age, gender, educational background, family income, family harmony, position, marital status, experience, title, work pressure, weekly working hours, chronic diseases and stressful events.Methods The medical staff of a children's hospital were evaluated using Zung's self-rating anxiety scale (SAS) and self-rating depression scale (SDS).The scores were correlated with age, gender, educational background, family income, family harmony, position, marriage, working years, title, work pressure, weekly working hours, chronic diseases, and stressful events data collected about the same respondents.Results There were 320 respondents suffering from anxiety disorders and 392 experiencing depression among the 677 medical staff surveyed.There were 288 who suffered from anxiety associated with depression.There was a significant difference between the males and the females.Marital status, family harmony, chronic disease and stress events were all significant predictors of anxiety or depression.A univariate analysis showed that neither education nor family income had significant predictive power, but age, professional title,working years, working pressure and working in different departments were all significant predictors.Medical staff with different weekly working hours showed significantly different average levels of anxiety, but position had no such effect.Position was, though, significantly correlated with depression score, while weekly working hours were not.Multivariable logistic regression models showed that educational background, working pressure, family harmony, chronic disease and stressful events were all significant predictors of anxiety.Working pressure, family harmony and chronic disease were related to depression.Conclusion Significant anxiety and depression were observed among the medical staff of this children's hospital.Working pressure, family harmony and chronic disease are strong predictors of anxiety and depression.
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Objective To track the effects of hyperbaric oxygen (HBO) therapy on neonatal rats with hypoxic-ischernic brain damage (HIBD).MethodsA total of 126 healthy,seven-day-old SD rats were used to model the HIBD and then randomly divided into seven groups of 18:a sham group,a hypoxic-ischemic (HI) group,a 6 h HBO group,a 24 h HBO group,a 48 h HBO group,a 72 h HBO group and a 1 week HBO group.One hour of HBO treatment at 2 atmospheres absolute pressure was administered once daily for a week to the rats in the latter 5groups,starting at 6,24,48,72 hours and 1 week post the HIBD modeling,while no HBO was administered to the sham and HI groups.The effects were assessed in terms of histological changes ( the neuron density and the percentage of neuron apoptosis in the CA1 region of the hippocampus) and nitric oxide (NO),malondialdehyde (MDA) and superoxygen dismustase (SOD) concentrations after 15 days.ResultsIn the 6 h HBO,24 h HBO,48 h HBO and 72 h HBO groups,average neuron density in the CA1 region was significantly higher than in the HI group.But in the 1 week HBO group the average density was not significantly different than in the HI group.In the 6 h HBO,24 h HBO,48 h HBO and 72 h HBO groups the average percentage of neuron cell apoptosis in the CA1 area of the hippocampus was significantly lower than in the HI group,but the 1 week HBO group again showed no significant difference.There were significant differences in average NO,MDA or SOD levels among the 6 h HBO,24 h HBO,48 h HBO,72 h HBO and HI groups,but the 1 week HBO group showed no significantly higher average levels than the HI group.ConclusionsThe optimal therapeutic window for using HBO to protect against HIBD is within the first week.The best effect can be obtained in the first 6 hours,but after 1 week HBO no longer has a significant effect.The earlier the HBO is administered,the better the effect obtained.
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@#Objective To observe the therapeutic effect of transcutaneous electric nerve stimulation on children with flaccid cerebral palsy. Methods 40 children with flaccid cerebral palsy were divided into 2 groups: treatment group (n=20) and control group (n=20). 2 groups were given conventional rehabilitation training for 30 d, while the treatment group added transcutaneous electric nerve stimulation on quadriceps femoris for 30 d. Quadriceps femoris was assessed by Modified Lovett classification, gross motor function was assessed by Gross Motor Function Measure (GMFM), and integrated electromyogram (iEMG) and root mean square (RMS) were recorded. Results There was significant improvement in 2 groups in Modified Lovett classification, GMFM, and iEMG and RMS (P<0.05) while the treatment group was better than the control group (P<0.05). Conclusion Transcutaneous electric nerve stimulation can enhance the muscle tone and strength of quadriceps femoris to improve gross motor function for children with flaccid cerebral palsy.
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Objective To evaluate the effectiveness and safety of hyperbaric oxygen (HBO) therapy as an adjunctive therapy for children with dyskinetic cerebral palsy. Methods Seventy-one children with dyskinetic cerebral palsy aged 6 mouths to 2 years were randomly assigned to a HBO group ( n = 35 ) or a control group ( n = 36).All children were given conventional rehabilitative treatment, but the children in the HBO group in addition received 40 sessions of HBO therapy. HBO was administered for 1 h with 85% ～ 90% oxygen at 1.4 atmospheres absolute pressure. All the treatments in both groups continued for 8 weeks. Gross motor function was evaluated with a gross motor function measure ( GMFM ), global motor performance was assessed with a psychomotor development index (PDI), and intelligence was assessed with a mental development index (MDI). Clinical assessments were done before and after treatment. At the same time, hearing impairment was measured using brainstem auditory evoked potentials (BAEPs) in the HBO group. Results All outcomes in both groups improved significantly over the course of study. The average improvement in GMFM in the control group was significantly greater than in the HBO group but other differences were not statistically significant. Hearing impairment developed in 8 children treated with HBO.Conclusion There was no evidence that HBO therapy improved the condition of children with dyskinetic cerebral palsy, and there is a risk of side effects with HBO therapy.
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Objective To explore the effects of wearing ankle-foot orthoses (AFOs) on motor function in children with spastic cerebral palsy (SCP). Methods Fifty-two children with SCP were randomly divided into a wearing-for-training group (n = 16, group 1 ), a day-wearing group (n = 19, group 2) and a day-night-wearing group (n = 17, group 3). In addition to the conventional rehabilitative treatment given to all participants, the children in group 1 wore AFOs during movement training, and children in group 2 wore AFOs in the daytime for 6-8 h per day, while AFOs were applied to the children in group 3 for 24 hours a day except for cleaning and during certain training routines. All the treatments were continued for 2 months. Clinical assessments included the range of passive ankle dorsi-and plantarflexion (APROM) , modified Ashworth scale (MAS) ratings, and the D and E dimensions of the Gross Motor Function Measure (GMFM). All were performed before and after treatment. Results Before treat-ment, no statistically significant differences were found among the three groups in terms of APROM, MAS, or GM-FM. There were significant subsequent improvements in groups 2 and 3 when compared with group 1 in terms of APROM, MAS and GMFM results. Group 2's improvements in APROM and MAS results were not significantly better than those of group 3, but their average GMFM score improvements were significantly better. Conclusion Wearing AFOs in the daytime 6-8 hours per day is more effective in reducing spasticity and improving functional performance in children with SCP.
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Objective To investigate the effects of ephedrine on glial fibrillary acidic protein (GFAP) expression after cerebral ischemia-reperfusion injury in rats.Methods Altogether 60 male SD rats were randomly divided into sham-operation group,natural recovery group and ephedrine treatment group.The unilateral ischemia-reperfusion models were induced by clue-blocked method.The expression level of GFAP around ischemic area was examined by immunohistochemical technique at weeks 1,2,3 and 4 after operation.Results GFAP expression began to increase at 1 w and stabilized at 3 w in ephedrine treatment group and natural recovery group.There was a significant increase of GFAP expression in ephedrine treatment group compared with that in natural recovery group (P