A prospective randomized controlled study on mouse nerve growth factor in the treatment of global developmental delay in children. / é¼ ç¥žç»ç”Ÿé•¿å› å­æ²»ç–—å ¨é¢æ€§å‘è‚²è¿Ÿç¼“çš„å‰çž»æ€§éšæœºå¯¹ç §ç ”ç©¶.

OBJECTIVES: To study the clinical effect of mouse nerve growth factor (mNGF) in the treatment of children with global developmental delay (GDD). METHODS: A prospective clinical trial was conducted in 60 children with GDD who were treated in the First Affiliated Hospital of Anhui Medical University between July 2016 and July 2017. These children were randomly divided into two groups: conventional rehabilitation treatment and mNGF treatment group (n=30 each). The children in the conventional rehabilitation treatment group were given neurodevelopmental therapy, and those in the mNGF treatment group were given mNGF treatment in addition to the treatment in the control group. The evaluation results of the Gesell Developmental Scale were compared between the two groups before and after treatment. RESULTS: Before treatment and after 1.5 months of treatment, there was no significant difference in the developmental quotient (DQ) of each functional area of the Gesell Developmental Scale between the mNGF treatment and conventional rehabilitation treatment groups (P>0.05). After 3 months of treatment, the mNGF treatment group had significantly higher DQs of gross motor, fine motor, and personal-social interaction than the conventional rehabilitation treatment group (P˂0.05). The incidence rate of transient injection site pain after injection of mNGF was 7% (2/30), and there was no epilepsy or other serious adverse reactions. CONCLUSIONS: In children with GDD, routine rehabilitation training combined with mNGF therapy can significantly improve their cognitive, motor, and social abilities.

[Clinical phenotypes and genetic features of families with Duchenne muscular dystrophy].

OBJECTIVE: To study the phenotypes and genetic features of families with Duchenne muscular dystrophy (DMD). METHODS: Seven children from six families with DMD diagnosed by gene testing were enrolled. The clinical and genetic features of the families were analyzed. RESULTS: There were two new mutations and four maternal inheritance mutations in the six families. The proband of family 1 had one point de novo mutation and one insertion de novo mutation of the DMD gene. Three families had point mutation, one family had fragment deletion of exon, and one family had fragment duplication of exon. The youngest age of onset of the probands was 6 months. All probands had skeletal muscle dyskinesia and significant changes in muscle enzymes, with different severities of clinical phenotypes. Three probands had mild mental retardation. The results of echocardiography were normal for all probands. The mother of the proband in family 6 had mild clinical phenotype. CONCLUSIONS: Gene testing can be used for the confirmed diagnosis of DMD. Mental retardation is a frequent clinical phenotype of DMD. The symptoms of myocardial involvement are not obvious in the early stage. Female carriers may have mild clinical symptoms.

The association of genetic polymorphisms with cerebral palsy: a meta-analysis.

AIM: The aim of our meta-analysis was to summarize quantitatively the association of genetic polymorphisms with cerebral palsy (CP). METHOD: We identified 16 studies on the association of genetic polymorphisms with CP in Pubmed, Elsevier Science Direct, Chinese Biomedical Literature Database, Chinese National Knowledge Infrastructure, and Wanfang. Eleven of these studies (involving a total of 2533 cases and 4432 controls) were used in the current meta-analysis. A study was included if (1) it was published up to September 2010 and (2) it was a case-control study. We excluded one study of family members because the analysis was based on linkage considerations. Meta odds ratios and 95% confidence intervals based on fixed-effects models or random-effects models were dependent on Cochran's Q statistic. We examined the relationship between alleles, as well as genotypes and susceptibility to CP. RESULTS: Meta-analysis was performed for 17 genetic polymorphisms: apolipoprotein E (ε2,ε3,ε4), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), coagulation factor II (rs1799963]), coagulation factor V (rs6025), coagulation factor VII (rs5742910/rs6046), interleukin-6 (IL-6) (rs1800795), endothelial nitric oxide (rs1800779/rs1799983/rs3918226), fibrinogen ß-polypeptide (rs1800790), plasminogen activator inhibitor 1 (rs1799768/rs7242), TNF-ß lymphotoxin α precursor (rs1041981), adducin 1 (α) (rs4961), ADRB2 (rs1042714), and tumour necrosis factor α (rs1800629). We found a significant association between CP and IL-6 (rs1800795) [C vs G: odds ratio (OR) 1.79, 95% confidence interval (CI) 1.44-2.22, p<0.001; CC+GC vs GG: OR 1.72, 95% CI 1.29-2.29, p=0.002; CC vs GG+GC: OR 2.17, 95% CI 1.52-3.09, p<0.001], but no other genetic polymorphisms. INTERPRETATION: This meta-analysis demonstrated that CP is associated with the genetic polymorphism IL-6 (rs1800795).

[Effect of conductive education combined with Frenkel training on balance disability in children with cerebral palsy].

OBJECTIVE: To study the efficacy of conductive education combined with Frenkel training in the improvement of balance function in children with cerebral palsy. METHODS: One hundred and fifteen children with cerebral palsy were randomly administered with conductive education and Frenkel training (study group, n=60) or conventional training (control group, n=55). Activities of daily living (ADL) scale and gross motor function measurement (GMFM) of physical performances were used to assess the balance function. RESULTS: The scores of ADL scale and GMFM of physical performances in both the study and the control groups increased after training. The study group showed higher scores of ADL scale (37.91+/-10.12 vs 34.18+/-6.13; p<0.05)and GMFM (62.93+/-15.00 vs 54.53+/-14.11) than the control group (p<0.05). CONCLUSIONS: Conductive education combined with Frenkel training is more effective for the improvement of balance function in children cerebral palsy.

Effects of Cd2+ on transient outward and delayed rectifier potassium currents in acutely isolated rat hippocampal CA1 neurons.

The effects of cadmium (Cd(2+)) on the transient outward potassium current (I(A)) and delayed rectifier potassium current (I(K)) were investigated in acutely dissociated rat hippocampal CA1 neurons using the whole-cell patch-clamp technique. The results showed that Cd(2+) inhibited the amplitudes of I(A) and I (K) in a reversible and concentration-dependent manner, with half-maximal inhibitive concentration (IC(50)) values of 546+/-59 and 749+/-53 microM, and the inhibitory effect of Cd(2+) was voltage dependent. Cd(2+) significantly shifted the steady-state activation and inactivation curve of I(A) to more positive potentials. In contrast, Cd(2+) caused a relatively less but still significant positive shift in the activation of I(K) without effect on the inactivation curve. Cd(2+) significantly slowed the recovery from inactivation of I(K) but had no effect on the recovery time course of I(A). The results suggest that the modulation of I(A) and I(K) was most likely mediated by the interaction of Cd(2+) with a specific site on the potassium-channel protein rather than by screening of bulk surface-negative charge. The effects of Cd(2+) on the voltage-gated potassium currents may be a possible contributing mechanism for the Cd(2+)-induced neurotoxic damage. In addition, the effects of Cd(2+) on the potassium currents at concentrations that overlap with its effects on calcium currents raise concerns about its use in pharmacological or physiological studies.

Effects of Cd(2+) on AMPA receptor-mediated synaptic transmission in rat hippocampal CA1 area.

Cadmium (Cd(2+)) is a common pollutant that causes a wide variety of toxic effects on the central nervous system. However, the mechanism of Cd(2+) neurotoxicity remains to be elucidated. In the present study, we examined the effects of Cd(2+) on AMPA receptor-mediated synaptic transmission and short-term synaptic plasticity in hippocampal CA1 area, using whole-cell patch clamp technique. Cd(2+) significantly inhibited the peak amplitude of evoked EPSCs (eEPSCs) in a concentration-dependent manner and enhanced the short-term synaptic plasticity including paired-pulse facilitation and frequency facilitation. Cd(2+) also decreased the frequency and amplitude of spontaneous EPSCs (sEPSCs) but had no effect on those of miniature EPSCs (mEPSCs). These effects of Cd(2+) may involve a presynaptic mechanism of blockade of action potential-sensitive, calcium-dependent release of glutamate. In addition, Cd(2+) prolonged the decay time of both sEPSCs and mEPSCs, which suggested a postsynaptic action site of Cd(2+). This study demonstrates that Cd(2+) impairs the Schaffer collateral-commissural-CA1 glutamatergic synaptic transmission and short-term plasticity in rat hippocampal slices, which may be a possible contributing mechanism for the Cd(2+)-induced neurotoxic effects.

Effects of congenital HCMV infection on synaptic plasticity in dentate gyrus (DG) of rat hippocampus.

This study was carried out to investigate whether the congenital HCMV infection affect the induction and maintenance of LTP /DP. Rat models of Sprague-Dawley rats congenitally infected by HCMV were made. Field excitatory postsynaptic potentials (EPSPs) were recorded in the hippocampal slices of offspring rats (50-65days) to study alterations of LTP /DP in area dentate gyrus (DG) of the hippocampus after congenital infection. The Ca(2+) and mRNA level of calmodulin (CaM) in the hippocampus neurons of the experiment group (congenital infected by HCMV) and the control group were measured;The input/output (I/O) curves of the EPSP slope PS amplitude in area DG in experiment group were significantly depressed when compared to control group (P<0.05). LTP of the EPSP slope and PS amplitude in area DG of the hippocampus was 137±4% (EPSP) and 225±11% (PS) in control rats and 115±9% (EPSP) and 163±7% (PS) in experiment rats (EPSP: F=25.29,P<0.05;PS: F=74.33 P<0.05, two-way ANOVA with Tukey test); DP of the EPSP slope and PS amplitude was 86±3% (EPSP) and 85±2% (PS) in control rats and 94±5% (EPSP) and 93±4% (PS) in congenitally infected rats (EPSP: F=5.62, P<0.05;PS: F=4.22, P<0.05, two-way ANOVA with Tukey test) . At the same time, intracellular [Ca(2+)] and mRNA level of CaM in the hippocampus neurons of the experiment group were significantly increased than that of in the controls ([Ca(2+)]: P<0.01;CaM mRNA: P<0.01) . The results demonstrate that congenital HCMV infection could reduce the range of synaptic plasticity in the Sprague-Dawley rats, which may trigger the dysfunction of learning and memory through disrupting the calcium balance.