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 ( 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 ( CONCLUSIONS In children with GDD, routine rehabilitation training combined with mNGF therapy can significantly improve their cognitive, motor, and social abilities.
Animals ; Epilepsy ; Mice ; Prospective Studies ; Social Skills

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.
Dystrophin ; Exons ; Female ; Genetic Testing ; Heterozygote ; Humans ; Muscular Dystrophy, Duchenne ; Mutation ; Phenotype

Intellectual development disorders are a group of etiologically diverse conditions originating during the developmental period characterized by significantly below average intellectual functioning and adaptive behavior. It is important to combine the personalized intervention with games and activities of daily living in community and family. Moreover, early intervention methods such as multi-sensory stimulation, activity observation training, goals-activity-motor enrichment are needed to improve their cognitive function; special education, intervention of behavioral, medicine and training of social skills, self-esteem and emotional quotient, to improve the outcome of children with intellectual development disorder.

OBJECTIVETo study the efficacy of conductive education combined with Frenkel training in the improvement of balance function in children with cerebral palsy.

METHODSOne 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.

RESULTSThe 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).

CONCLUSIONSConductive education combined with Frenkel training is more effective for the improvement of balance function in children cerebral palsy.

Activities of Daily Living ; Adolescent ; Cerebral Palsy ; physiopathology ; rehabilitation ; Child ; Child, Preschool ; Disabled Children ; rehabilitation ; Education, Special ; methods ; Female ; Humans ; Infant ; Male ; Motor Skills ; Physical Therapy Modalities ; Postural Balance

Objective To investigate whether iceberg phenomenon of celiac disease(gluten-sensitive enterpathy,GSE) exists among the people of China,and study on the levels of anti endomysial antibody(AEA)IgA and IgG,which provide the foundation for studying functional genome of GSE.Methods One hundred and thirty-six cases liability crowd,which showed part symptoms of GSE,were selected as case group and 50 cases of normal were selected as control group.Enzyme-linked immunosorbent assay was used to detect the level of 2 groups and positive rate of AEA was compared between 2 groups.Results The levels of AEA IgA and IgG in case group(17.69?2.97,15.23?2.36)were significantly higher than those of control group(11.65?2.75,12.25?1.86),especially 2 strong positive cases were found in case group.Conclusion Iceberg phenomenon of celiac disease exists in the people of China,which means many celiac disease patients have not been diagnosed and it need us far more research.

Objective To explore the migration and differentiation of the human neural stem cells (hNSC) after being transplanted to the neonatal rat lateral ventricle,to provide some data on therapy for neonatal cerebropathy by using of neural stem cells.Methods N2 medium containing EGF+FGF2+LIF was used to culture the NSC spheres from the forebrain tissues of aborted human fetus.The hNSC was identified by detecting the NSC marker nestin antigen and showing the potency to differentiate into neural cells( including astrocytes,oligodendrocytes and neurons)by using indirect immuno-fluorescence assay(IFA).The part of the hNSC in-vitro cultured for 14 d was digested to suspensions of cell.Cultured for 14 d, the hNSC in-vitro and the suspension were transplanted into the lateral ventricles of the neonatal rat brains.The rats were respectively killed at 24,48 and 72 h respectively post-transplant,the whole brain was sectioned,and the special immuno-response detection was performed by using anti-human nuclei(anti-hNuc)and anti-human neurofilament(anti-hNF).Results In vitro culture,the typical NSC spheres were obtained from the forebrain of the human fetus.The suspensions of cells were obtained from the neurosphere.In neurosphere group, the results of anti-hNuc detecting tracing at 72 h post-injection showed that the grafts had migrated into the cortex grand layers of olfactory bulbus,medial precentral area of lobus frontalis,hippocampal,and lobus occipitalis.The label-positive cells lined along the Cerebellar Purkinje cell layers and appeared in most parts of mesencephalons.The immuno-respons results of anti-hNF showed that the positive cells scattered in the grand layer of cortex,the connection among positive cells was watched.In suspensions group,the results of anti-hNuc detecting tracing at 24 h post-injection show a great quantity of positive cells in the ventricles and injection track.At 72 h, a small quantity of positive cells remained in the ventricle and nearby brain tissue.Conclusions Whole neurospheres migrated intensely and differentiated into neurons and gliocytes.At the same time,transplants of cells from suspension transplants showed limited or no migration because of internal environment of the brain and construction of neurospheres.

Objective To explore the neurobehavioral change of mice from dams with human cytomegalovirus(HCMV) infection during first trimester. Methods Eight-week-old fertilized female Kunming mice were randomly divided into infected group and control group.On the 4th gestation day mice in infected group were injected intraperitoneally with 0.5 mL HCMV (1?10-6 50 percent of tissue cultured infective dose),and those in control group were injected intraperitoneally with 0.5 mL supernatant of cultured human fibroblast.Caesarean birth operation was performed on 3 randomly chosen fertilized mice before delivery. Fetuses were observed and their brain tissue were collected and analyzed under light and electron microscope separately.PCR test was used to determine HCMV pp65 antigen of offspring′s sera.Neurobeha-vioral test such as Morris Water Maze and Lashley Ⅲ Water Maze were performed on offspring mice of 6-7 weeks old.Results Compared with control group,the pathological changes such as degeneration,necrosis,and nucleus disappearance of nerve cells and giant cells were found in offspring′s brain of mice in infected group under light microscope. Under electron microscope,swelling of nerve cells and spherical virus particle in the cytoplasm were found in the brain of mice in infected group. HCMV pp65 antigen was detected in 7 offspring mouse′s se-rum in infected group.Offspring′s swimming time and speed were(30.21?12.74) s and(19.10?1.90) cm/s in infected group,while those in control group were (11.87?3.62) s and (23.21?1.02) cm/s by Morris Water Maze test,there were significantly differences between 2 groups (Pa

The relationships between serum endothelin-1,calcitonin gene-related peptide and hypoxic-ischemic brain injury(HIBD) has been widely importance.Their respective functions,mutual relations and their relationships with HIBD has become a hot research.Understanding of their biological characteristics,mechanism and regulation of gene expression characteristics,is conducive to more in depth study on its pathogenic characteristics,provide a theoretical basis for clinical diagnosis and treatment.

Objective To explore the method to develop a gene vaccine of human cytomegalovirus (HCMV) phosphoprotein 65 (pp65) against its infection. Methods HCMV strain AD169 was propagated in WI-38 cell and viral DNA was extracted as a template for polymerase chain reaction (PCR) amplification of UL83 (pp65), the resulting of PCR was subcloned into pUC118HincII/BAP plasmid and DNA sequence analysis conformed the fidelity of the PCR. The vector pcDNA 5.0 was designed to correctly place CMV promoter sequence, pp65 sequence and secret signal sequence (mouse immunoglobulin kappachain for efficient secretion of recombination protein) into its genomic DNA. Exchanged primers of pp65 sequence, CMV promoter sequence and secret signal sequence to confirm the result by PCR screening. The vector pcDNA 5.0 was transfected into CHO cell, supernatants of transfected cells were extracted and purified. Recombination protein from supernatants was detected by gel electrophoresis and dot blot hybridization of Western- ECL system. Results Compared the sequence of pp65 gene with the standard sequence of pp65 from Medline,it was found that the concordant rate between them was 99.99%,only a nonsense mutation occurrences at 1 455 base.A pcDNA 5.0 Eukaryotic expression vector was established, which including CMV promoter sequence,secretion signal sequence and pp65 sequence. PCR screening and the pp65 protein expressed in CHO cell confirmed it. Extraction from supernatants in transfected CHO cells was recombination protein of pp65, which was detected by gel electrophoresis and dot blot hybridization of Western- ECL system and western blotting.Conclusion Subunit vaccine of HCMV is gained,which is a transfer eukaryotic expression vector pcDNA 5.0 constructed by CMV promoter sequence,secretion signal sequence and pp65 gene sequence.