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Objective:To report the clinical and genetic characteristics of a family with Niemann-Pick disease type C caused by novel compound heterozygous mutations in the NPC1 gene to improve the clinicians′ recognition of the disease. Methods:Two patients from the family with non-consanguineous marriages admitted to the Department of Neurology of the First Affiliated Hospital of Kunming Medical University in 2020 were examined in detail. Peripheral blood DNA was extracted, and whole exome sequencing was performed on the patients, combined with Sanger sequencing for verification. The mutation and protein function predictor softwares were applied to analyze the mutation sites.Results:The inheritance was autosomal recessive in this family. The onset age of the proband was 9 years, and the main clinical manifestations were dysarthria, dysphagia, cognitive impairment, ataxia, bilateral pyramidal tract impairment, vertical supranuclear gaze palsy and splenomegaly. The clinical phenotype of the proband′s younger brother was similar to that of the proband, but it was more severe than that of the proband. The younger brother of the proband had an earlier age of onset and severe psychomotor retardation. Whole exome sequencing showed that both brothers carried 2 rare variants of NPC1 gene:1 pathogenic, stop gain at c.352_353del, p.Gln119ValfsTer8, and a missense change, c.593A>G, p.Asn198Ser, of suspected pathogenic. Sanger sequencing confirmed that compound heterozygous mutations were derived from the proband′s parents. According to the American College of Medical Genetics and Genomics guidelines, the above variants were rated as pathogenic and suspected pathogenic, respectively. And the c.593A>G, p.Asn198Ser mutation found in this family was a novel one which had not been reported yet. The proband had delayed diagnosis for 7 years from the onset of symptoms. After taking megastat for 1 year, the symptoms of dysphagia, ataxia and vertical eye movement disorder were significantly improved. Conclusions:The clinical phenotype of the pedigree was consistent with the clinical phenotype of Niemann-Pick disease type C. Compound heterozygous mutations of NPC1 gene (c.352_353del; c.593A>G) were found to be the genetic cause of the family.
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Objective@#To understand the behavioral problems of children infected with HIV, and to provide reference for further psychological intervention.@*Methods@#The survey was conducted from January to December 2017. A total of 256 HIV-infected 10-16 years old school-aged children who were receiving highly active antiretroviral therapy (HAART) in Guangxi Zhuang Autonomous Region Center for Disease Control and Prevention were invited to participate. Another 256 children without HIV infection who were matched with sex and age were selected as the control group. Achenbach Children’s Behavior Scale was used to conduct psychological questionnaires in the two groups of children.@*Results@#Activity, social competence, and learning ability in the study group scored lower than control group (P<0.05). In children with HIV infection group, score of social competence in boys and girls aged 10-11 years were (14.35±3.96) (15.26±5.00), respectively, and was (14.21±4.64) and (14.57±5.50) in boys and girls aged 12-16 years was significantly lower than age and sex-matched control group (19.38±6.77 and 18.09±5.16 in boys and girls aged 10-11 years, 17.26±6.88 and 17.84±6.76 in boys and girls aged 12-16 years) (P<0.05). The total detection rate of behavioral problems in the study group (13% and 10% in boys and girls aged 10-11 years, 17% and 13% in boys and girls aged 12-16 years) was significantly higher than that in the control group (5% and 3% in boys and girls aged 10-11 years, both 4% in boys and girls aged 12-16 years) (P<0.05).@*Conclusion@#Behavioral problems in HIV-infected children are prevalent, which worth more attention to carry out psychological intervention among this vulnerable population.
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Objective To explore the effects of interactive health education on the knowledge and behaviors of medicine use and the biochemistry indicators in hemodialysis patients. Methods Forty-eight eligible hemodialysis patients were intervened with interactive health education once every month. After three times'intervention, phosphorus, hemoglobin and hematocrit level were compared before and after the intervention. Results After the intervention, phosphorus, levels of hemoglobin and hematocrit were all significantly improved ( P<0 . 001 ) compared with that before the intervention . Conclusion The interactive health education can improve the knowledge and compliance behaviors in medicine use, serum phosphate and symptoms of anemia in hemodialysis patients.
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Objective To investigate the correlation between moderate hypoxia and tumor invasiveness in colon carcinoma cell line HT‐29 and detect the expression of NF‐κB protein in nucleus and activities of MMP‐2/9 ,so as to explore its latent mecha‐nism of malignant transformation .Methods The moderate hypoxia model was established according to the pressure of O2 of tumor in vivo .After different period in moderate hypoxia ,activities of MMP‐2/9 secreted by HT‐29 cells were measured by gelatin zymog‐raphy ,NF‐κB levels in nucleus were assessed by Western blot after extraction of nucleic protein .Results MMP‐2/9 activities under moderate hypoxia gradually up‐regulated in 12 h and reached the peak at 24 h .The expression of NF‐κB protein in nucleus was simi‐lar to that of MMP‐2/9 .Conclusion Moderate hypoxia could induce malignant phenotype in HT‐29 cells through up‐regulating MMP‐2/9 activities ,in which NF‐κB may involve in this progression .
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Objective To investigate the expression level and promoter methylation of SOX17 gene and the clinical correlations in Chinese patients with chronic myeloid leukemia ( CML ) . Methods The levels of SOX17 expression and methylation were detected by RQ-PCR and RQ-MSP. Results SOX17 expression level was significantly lower in CML compared with 30 controls (P=0.001). The area under the receiver operating characteristic (ROC) curve (AUC) was 0.748 to differentiate CML from control (P=0.001). There was a trend of correlation between SOX17 expression and bcr/abl transcript (r = 0.439,P = 0.068) in CML patients. Hypermethylation of SOX17 promoter was detected in 3 (4%) CML patients, however, there was no difference as compared with 32 controls. In our study, SOX17 hypermethylation was not corrected with its expression. Conclusion Decreased SOX17 expression is a common molecular event in CML and may be considered as an available biomarker to diagnose CML. Dysregulated SOX17 is not caused by promoter hypermethylation in CML.
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Objective:To study the inflammation stress reaction between laparoscopic operation and open operation in treating hysteromyoma.Methods: hysteromyoma patients in our hospital from January 2011 to December 2012 were enrolled and randomly divided into observation group given laparoscopic operation and control group given open operation. Then inflammatory factors levels were detected, operation trauma index were observed and the correlation were analyzed.Results: (1)After treatment, inflammatory factor levels of two groups were higher than those before treatment and IL-1(t=5.892,P0.05), intraoperative bleeding volume(t=7.842,P<0.05), postoperative anal exhaust time(t=7.283,P<0.05), bed time(t=8.213,P<0.05) and NRS pain scores(t=7.883,P<0.05) of observation group were lower than control group(P<0.05); (3) Intraoperative bleeding volume, postoperative anal exhaust time, bed time and NRS pain scores were positively correlated with IL-1,r2 were separately 0.485, 0.521, 0.442, 0.451; and positively correlated with TNF-α levels,r2 were separately 0.556, 0.513, 0.423, 0.458, the difference was statistical significance(P<0.05).Conclusion: Laparoscopic operation is helpful to reduce the operation wound and relieve postoperative inflammatory reaction; and there was close correlation between inflammatory stress and operation trauma.
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OBJECTIVE:To understand ADR and ADE reports induced by Shuanghuanglian injection in Guangxi Zhuang Na- tionality Autonomous Region of 2009 to provide reference for clinical application of Shuanghuanglian injection and ADR monitoring. METHODS:818 ADR and ADE cases induced by Shuanghuanglian injection from Jan. 1 and Dec. 31 of 2009 collected from Guangxi Center for ADR Monitoring were analyzed statistically. RESULTS:Male(n=437)involved in 818 ADR cases was more than female(n=381).Ratio of male to female was equal to 1.15∶1.The ADR incidence of patients aged from 0 to 9 was higher than other age groups,accounting for 43.77%.88.39%of primary disease in ADR patients was respiratory diseases.27.25%of cassound prognosis. Occurrence time of ADR cases were short,777 cases were collected from primary hospitals,accounting for 94.99%. CONCLUSION:Great importance should be attached to the application of Shuanghuanglian injection,ADR monitoring and rational use of drugs.