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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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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 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 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 compare the curative effects between domestic and imported monosialotetrahexosyl ganglioside sodium (GM 1) on neonatal hypoxic ischemic encephalopathy(HIE).Methods 104 neonates with HIE were randomly divided into Shenjie group(domestic GM 1,53 cases )and Pharma group (imported GM 1,51 cases).At the basic of conventional therapy,the two groups received domestic or imported GM 1 20 mg /d intravenous infusion for 7～ 28 d,rspectively.The curative effects and adverse reaction were observed.Results The total effective rates in Shenjie group and Pharma group were 98.11% and 88.24%,respectively.There was no significant difference between the two groups.While,there was no obvious adverse reaction in the two groups.Conclusion Both the domestic and imported GM 1 have the same good curative effects and safety on neonatal HIE.