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OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Aicardi-Goutières syndrome 3 (AGS3).@*METHODS@#Trio whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. To further clarify their pathogenicity, the crystal structure of the variants was simulated and analyzed, and the plasmid of variants was expressed in vitro. A literature search was also carried out to summarize the phenotypic and genetic characteristics of AGS3.@*RESULTS@#The child was found to harbor novel compound heterozygous variants of the RNASEH2C gene, namely c.434G>T (p.Arg145Leu) and c.494G>C (p.Ter165Ser), which were inherited from his mother and father, respectively. Analysis of protein crystal structure suggested that the c.434G>T (p.Arg145Leu) variant may affect the stability of local structure, and in vitro experiments showed that this variant can lead to protein degradation. The c.494G>C (p.Ter165Ser) variant has destroyed the stop codon, resulting in prolonged variant.@*CONCLUSION@#The novel compound heterozygous variants of the RNASEH2C gene probably underlay the AGS3 in this child, which has enriched the phenotypic and mutational spectrum of this disorder.
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Humans , Child , Mutation , Autoimmune Diseases of the Nervous System/genetics , Nervous System Malformations/geneticsABSTRACT
@#Objective To discuss the differences of the types of cerebral palsy and the comorbidity between premature and full-term infants. Methods 233 children with cerebral palsy were divided into premature group (n=98) and full-term group (n=125). The types of cerebral palsy and the complications were analyzed. Results The high risk factors were low birth weight, jaundice, asphyxia, intracranial hemorrhage and cord around neck in sequence in the premature group, and were asphyxia, jaundice, fetal distress, intracranial hemorrhage and intrauterine infection in sequence in the full-term group. Besides auditory handicap. The frequency of spastic diplegia was higher in the premature group than in the full-term group (P<0.001), and the incidence of spastic hemiplegia was higher in the full-term group than in the premature group (P<0.01). There was no significant difference in dysgnosia, epilepsy and visual disturbance (P>0.05), but auditory handicap (P<0.05) between 2 groups. Conclusion The main clinical types of premature and full-term children with cerebral palsy were spastic diplegia and spastic hemiplegia respectively. The prevalence of auditory handicap was higher in preterm children
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@# ObjectiveTo evaluate the effect of early intervention on intellectual development in children with brain injury syndrome. Methods107 children with brain injury syndrome were divided into intervention group （n=73） and observation group （n=34）. The intervention group accepted early interventions for mental retardation introduced in child early education manual. Observation group accepted family training. They were followed up once per 1 or 2 months, and assessed with Gesell Developmental Schedules 6 months later. ResultsThere were more children whose adaptability DQ within the normal range (maintained or restored) in the intervention group than in the observation group. ConclusionEarly intervention may decrease the intellectual retardation for children with brain injury syndrome.
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Objective To examine the concurrent validity of Peabody'S developmental motor scale number 2(PDMS-2)and Gesell's developmental scales with 1 2 to 30 month-old children with cerebral palsy (CP)and to assess the value of PDMS-2 in measuring motor function in children with CP.Methods Eighty-four children with CP aged 12 to 30 months were assessed with both PDMS-2 and Gesell's developmental scales.The correlation between PDMS-2 gross motor quotients and Gesell gross motor developmental quotients,and be-tween PDMS-2 fine motor quotients and Gesell fine motor developmental quotients were compared using Spearman rank correlation coefficients. Results The correlation coefficient between PDMS-2 gross motor quo-tient and the Gesell gross motor developmental quotient was 0.89.Between PDMS-2 fine motor quotient and Gesell's fine motor developmental quotient it was 0.87.The concurrent validities were 0.28 and 0.42 respec-tively. Conclusion PDMS-2 gross motor quotient and Gesell's gross motor developmental quotient are highly correlated,as are PDM S-2 fine motor quotient and Gesell's fine motor developmental quotient.The concurrent validities were between classifications using the PDMS-2 gross motor quotient and Gesell's gross motor develop- mental quotient were weakly correlated,but there was moderate correlation between PDM S-2 fine motor quotientsand Gesell fine gross developmental quotients.There may be limitations in assessing motor function children aged12 to 30 months with cerebral palsy using PDMS-2.
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@#: Objective To evaluate the value of rehabilitation direction for the treatment of the children with spastic cerebral palsy. Methods 116 children with spastic cerebral palsy were investigated. 56 children who accepted rehabilitation direction and training in family participated in study group and 60 children who wouldn't accept rehabilitation direction participated in control group. All the children received comprehensive rehabilitation treatment in hospital, including physical therapy, acupuncture, low frequency electrotherapy and occupational therapy. All the children were assessed with Gross Motor Function Measure-88 (GMFM) before and 3 months after treatment. Results There was a significant difference before and after treatment in scores of GMFM in each dimension and total in both groups (P<0.01), and the treatment group improved more than control group(P<0.05). Conclusion Rehabilitation direction can facilitate the recovery of spastic cerebral palsy children.
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@#Objective To analyze the relationship between intelligence development and clinical types and high-risk factors in the children with cerebral palsy (CP).Methods 363 CP children were tested using Gesell Developmental Scale (GDS), the relationship between intelligence development delay and clinical types and high-risk factors was analyzed.Results There was a significant relation between asyphxia, pathologic jaundice and intelligence development delay of CP children. The rate of intelligence development delay in athetotic and mixed type CP was significantly higher than the spastic type ( P<0.01).Conclusion Asyphxia and pathologic jaundice are the high-risk factors inducing intelligence development delay, and there is a relationship between intelligence development delay and clinical type of CP.
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@#Objective To investigate the incidence and risk factors of optic atrophy in cerebral palsy(CP).MethodsThe clinical dates of 872 children with CP were analyzed retrospectively.ResultsThe incidence of optic atrophy was 17.1% in CP.There was no significant difference among sexes,age and clinical types.Asphyxiation (OR=1.787,95%CI:1.225～2.608) and premature delivery (OR=2.074;95%CI:1.332～3.230) were significantly related to optic atrophy.ConclusionIn children with CP,the incidence of optic atrophy is high.Asphyxiation and premature delivery are risk factors of optic atrophy.Examination of ocular fundus should be considered as one of the routine examinations.
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Object To develop a new method of discriminating the principle components of Radix Paeoniae Rubra (RPR) from different areas, and to find the reason for forming high-quality of RPR in the place of the genuine. Methods Using Foruier transform infrared (FTIR) absorption spectrometry, the characteristic peaks of fingerprint infrared spectra of RPR samples from 18 habitats were recognized and compared. Results Frequency, intensity and shape of infrared absorption spectra were obviously different between wild and cultivated groups of RPR. The infrared absorption peaks of RPR in Duolun, a famous Chinese orthodox drug, were of distinct characteristics. Conclusion FTIR technique is first applied to rapid analysis of principle component of RPR from different areas. So an operable method in the quality control and discrimination of RPR in the place of the genuine is provided.