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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
Background@#A small shift in high-sensitivity cardiac troponin T (hs-cTnT) assays can lead to different result interpretation and consequent patient management. We explored whether a small bias could be detected using conventional internal quality control (QC) procedures, evaluated the performance of moving average (MA)-based QC procedures, and proposed a new QC procedure based on the moving rate (MR) of positive patient results of hs-cTnT assays. @*Methods@#The ability of conventional QC to detect a 5 ng/L bias was examined using the 1 3s/ 22s/R4s multi-rule procedure as deviation rules.We developed MA and MR procedures for the hs-cTnT assay using eight months of patient data. The performance of different MA or MR procedures was investigated by calculating the median number of patient samples affected until a bias introduced into the dataset was detected (MNPed). After comparing the MNPed across different procedures, we selected an optimal MA or MR procedure for validation. Validation graphs were plotted using the minimum, median, and maximum number of results affected until bias detection. @*Results@#Our conventional QC procedures could not detect a positive bias of 5 ng/L. When a positive bias was introduced, MNPed was much higher using MA than using MR, with cut-off values of 5 ng/L and 14 ng/L, respectively. MR validation charts for optimal procedures provided insight into the MR performance. @*Conclusions@#The MR procedure could detect different errors with few false alarms. In the hs-cTnT assay, the MR procedure with a smaller cut-off value outperformed MA and conventional QC procedures for small bias detection.
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Objective To explore the effect of rat nerve growth factor combined with early rehabilitation intervention in the treatment of hearing injury caused by cytomegalovirus (CMV) infection.Methods 106 cases of hearing impairment caused by cytomegalovirus infection diagnosed in our hospital from January 2012 to February 2018 were randomly divided into observation group and control group,53 cases in each group.The control group were treated only with ganciclovir and comprehensive rehabilitation therapy,while the treatment group was treated with nerve growth factor on the basis of the control group.Before and after treatment,the children in both groups underwent multi-frequency steady-state evoked potential test,cytomegalovirus antibody DNA fluorescence quantification,and their mothers underwent cytomegalovirus antibody test.The total effective rate of the two groups and the effective rate of the observation group with different degrees of hearing impairment were compared,and the therapeutic effect of the observation group with congenital and acquired CMV infection was compared.Results The total effective rate was 80.7％ in the observation group,which was higher than 65.9％ in the control group (P ＜ 0.05).The effective rate of mild to moderate hearing loss in observation group was higher than that in severe hearing impairment (P ＜0.05).The efficacy of the rat nerve growth factor in the treatment of hearing loss after CMV infection was higher than that of hearing loss caused by congenital cytomegalovirus infection (P ＜ 0.05).Conclusions Rat nerve growth factor combined with early comprehensive rehabilitation intervention is an effective method to treat acoustic nerve injury caused by CMV infection.The effect of rat nerve growth factor on mild and moderate hearing impairment was better than that of severe hearing impairment.The therapeutic effect of acquired CMV infection on hearing damage was better than that of by congenital infection.
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OBJECTIVE:To observe the efficacy and safety of mifepristone cycle therapy in the treatment of perimenopausal dysfunctional uterine bleeding. METHODS:Totally 116 patients with perimenopausal dysfunctional uterine bleeding were randomly divided into control group and observation group. Control group was given Mifepristone tablet 10 mg from 3 d after diagnostic cu-rettage on an empty stomach for continuous 90 d,once a day. Observation group was given Mifepristone tablet 10 mg from 3 d af-ter diagnostic curettage on an empty stomach,once a day,and it was stopped after continuous 5 d. Then it continued 5 d from the first day of menstruation,and lasted 3 menstrual cycles. The clinic data was observed,including clinical efficacy,estradiol(E2),fol-licle-stimulating hormone (FSH),luteinizing hormone (LH),progesterone (P),hemoglobin (Hb),endometrial thickness,men-strual conditions and recurrence in 2 groups before and after treatment were observed,and the incidence of adverse reactions were recorded. RESULTS:After treatment,E2,FSH,LH and P in 2 groups were significantly lower than before,and observation group was lower than control group,the differences were statistically significant(P0.05). Total effective rate in observation group significantly higher than control group,normal proportion of menstruation were significantly better than control group,the differences were statistically sig-nificant(P0.05). CONCLUSIONS:Mifepristone cycle therapy has significant efficacy in the treatment of perimenopausal dysfunctional uterine bleeding,can significantly improve the hormone level and the establishment of normal menstrual cycle and re-duce endometrial thickness,with good safety.
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@#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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BACKGROUND:Astragaloside Ⅳ is a major component of Huangqi,promoting proliferation and differentiation of bone marrow mesenchymal stem cells;however,the mechanism has been less reported yet.OBJECTIVE:To explore the effect of Astragaloside Ⅳ on expression of multiple hematopoietic growth factors in bone marrow mesenchymal stem cells.METHODS:Bone marrow mesenchymal stem cells were isolated from adult Wistar rats by using the method of adhesive culture and clone,and they were then plated on 96-well plate and separately incubated with 100 uL Astragaloside Ⅳ(25,50,100,200 g/L)for 72 hours.The cells in the control group were cultured with an equal volume of DMEM-LG culture liuquid.Indirect immunofluorescence was used to detect the biological activity,MTT method was used to evaluate the effect of Astragaloside Ⅳ on proliferation and differentiation of bone marrow mesenchymal stem cells,and RT-PCR method was used to measure the expression of hematopoietic growth factors in bone marrow mesenchymal stem cells.RESULTS AND CONCLUSION:The 3~(rd)-passage bone marrow mesenchymal stem cells highly expressed CD44 but lowly expressed CD45.As compared with control group,Astragaloside Ⅳ promoted proliferation of bone marrow mesenchymal stem cells in a time/dosage-dependent manner,in particular,the 200 g/L Astragaloside IV and 72-hour intervention(P＜ 0.05).SCF expression was significantly increased in the drug group compared with control group(P ＜ 0.01);however,TPO,GM-CSF,and TGF-β1 expressions were not changed significantly(P ＞ 0.05).Moreover,interleukin-3 expression was not found in the bone marrow mesenchymal stem cells.Astragaloside Ⅳ promoted in vitro proliferation of bone marrow mesenchymal stem cells,possibly involving in SCF secretion.