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Objective:To investigate the prognosis of childhood adrenoleukodystrophy (ALD) with cognitive disorder after haploidentical allogenic hematopoietic stem cell transplantation (haplo-HSCT), and to identify risk factors affecting the prognosis.Methods:It was a single-center retrospective study involving 31 ALD children receiving haplo-HSCT in Peking University People′s Hospital from January 2014 to October 2022.Survival analysis was performed by Kaplan-Meier method. Cox regression analysis was performed to identify risk factors for the prognosis of childhood ALD following haplo-HSCT. Results:Among the 31 children with ALD, 1 case died of cardiogenic shock during the transplantation, and the remaining had a successful haplo-HSCT.Ten children with ALD had cognitive disorder before haplo-HSCT, including 3 cases with the minimal LOES score ≥10 points and 8 cases with the Neurologic Function Score (NFS)>0 point before haplo-HSCT.Six children had major functional disability (MFD) and 2 cases died due to progression of ALD after haplo-HSCT.Twenty children did not have cognitive disorder before haplo-HSCT, of whom 3 cases had the LOES score≥10 points and 6 cases had NFS>0 before haplo-HSCT.Four children had MFD and 2 cases died due to progression of ALD after haplo-HSCT.For ALD patients without cognitive disorder after haplo-HSCT, the 3-year and 5-year survival rate were 100.0% and 72.9%, respectively, and the 5-year MFD-free survival was 61.6%.For ALD patients with cognitive disorder after haplo-HSCT, the 3-year survival rate was 83.3%.Compared with ALD patients with the LOES score<10 points before haplo-HSCT, those with the LOES score≥10 points had 9.243 times the risk of developing MFD after haplo-HSCT ( P=0.024, 95% CI: 1.332-64.127). Compared with ALD patients without cognitive disorder before haplo-HSCT, ALD patients with cognitive disorder had 9.749 times the risk of developing MFD after haplo-HSCT ( P=0.023, 95% CI: 1.358-66.148). Conclusions:Cognitive disorder and LOES score≥10 points before haplo-HSCT are risk factors for developing MFD in children with ALD following haplo-HSCT.
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Objective:To study the neurodevelopmental status of very/extremely low birth weight preterm infants with gestational age less than 32 weeks at the corrected age of 1 year.Methods:Preterm infants admitted to the Neonatology Department after birth at Guangzhou Women and Children′s Medical Center from January 2015 to December 2018 and followed up regularly to the high-risk infants clinic for at least 1 year after discharge were selected as the research subjects.According to the birth weight(BW), preterm infants were divided into very/extremely low birth weight group(BW<1 500 g), low birth weight group(1 500 g<BW<2 500 g)and normal birth weight group(2 500 g≤BW<4 000 g). The neurodevelopment of preterm infants with different BW at the corrected age of 1 year were compared and the influence of perinatal risk factors on neurodevelopment of very/extremely low birth weight preterm infants were analyzed.Results:A total of 270 preterm infants were included in the study, including 95 in the very/extremely low birth weight group, 124 in the low birth weight group, and 51 in the normal birth weight group.At the corrected age of 1 year, adaptability, gross motor, fine motor, language, individual sociability and development quotient(DQ) in the very/extremely low birth weight group were lower than those in the other two groups( P<0.05). The incidence of neurodevelopmental abnormality(DQ<85)in very/extremely low birth weight preterm infants was 42.1%(40/95) at the corrected age of 1 year.The incidence of intracranial hemorrhage in neurodevelopmental abnormality group(85.0%, 34/40) was higher than that in the control group(29.1%, 16/55)( P<0.05). Conclusion:Very/extremely low birth weight preterm infants are at high risk of neurodevelopmental abnormality at the age of 1 year, and intracranial hemorrhage may be a related potential risk factor.Perinatal follow-up care and early intervention should be emphasized to strengthen neurodevelopmental monitoring.
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Objective:To explore the current status of human resources allocation and occupational situation of community child health care medical staff (CCHCMS) in Guangzhou.Methods:A questionnaire survey of job burnout and turnover intention was conducted from January 2 to January 10, 2020 among CCHCMS in 11 districts of Guangzhou. Lorentz curve and Gini coefficient were used to analyze the equity of human resources allocation. Influencing factors of turnover intention of CCHCMS were explored using structural equation model.Results:There were 5.63 CCHCMS per 10 000 children aged 0 to 6 years old, and 0.08 CCHCMS per square kilometer in Guangzhou. According to the distributions of service population and area, the Gini coefficients of CCHCMS were 0.13 and 0.47, respectively. A total of 574 CCHCMS completed the questionnaire survey, and 197 (34.3%) showed higher turnover intention. The constructed structural equation model fit well (RMSEA=0.04, CFI=0.97). The standardized coefficients of the average monthly income before tax, job satisfaction and career burnout on turnover intention were -0.30, -0.46 and 0.22, respectively. Job satisfaction indirectly affected turnover intention through the mediating role of career burnout (standardized cofficient=0.10) . Income and mode of employment were negatively correlated with job burnout, and standardized cofficient were -0.10,-0.16,respectively. The standardized coefficients of education and work area on job satisfaction were -0.16 and 0.20, respectively.Conclusion:The number of CCHCMS in far suburbs of Guangzhou is insufficient. CCHCMS have a high turnover intention. Income, mode of employment, education and work area are the factors that influence the turnover intention of CCHCMS.
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Objective@#To investigate the association of both maternal pre-pregnancy body mass index (BMI) and gestational weight gain (GWG) with childhood overweight and adiposity in preschool children.@*Methods@#A total of 4 303 preschool children aged 3-5 years were enrolled in our study during June and November 2016 in Guangzhou. Children defined as overweight and obesity were according to the criteria of WHO while weight status during maternal pre-pregnancy was using the China Adult Reference. Gestational weight gain was defined according to the Institute of Medicine guidelines.@*Results@#After adjusting the possible confounding factors, results from the logistic regression analysis showed that both maternal pre-pregnancy overweight and obesity would increase the risk for both childhood overweight and obesity (OR=1.820, 95%CI: 1.368-2.422). The analysis of covariance results also showed that both maternal overweight and obesity before pregnancy and excessive maternal weight gain during pregnancy increased the BMI Z-score in children. Maternal GWG over the recommended level were associated with both the childhood overweight and obesity (OR=1.296, 95%CI: 1.007-1.667). Joint associations of pre-pregnancy BMI and inappropriate GWG were also noticed in the study. Stratified analysis was conducted in three groups according to the pre-pregnancy BMI of the mothers. Result showed that there was no statistical difference in the risks of either overweight or obesity in children (P>0.05). However, when compared to mothers with adequate pre-pregnancy higher BMI and adequate GWG, under the combination of high pre-pregnancy BMI and excessive GWG, their adverse effects on childhood overweight and obesity were much higher (OR=1.574, 95%CI: 1.029-2.409).@*Conclusions@#Both high pre-pregnancy BMI and inappropriate GWG were associated with greater BMI of their offspring. Pregnant women should follow the appropriate weight gain program and help their children to prevent from becoming obese.
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Objective@#To evaluate the influence of antiretroviral prophylaxis on the growth and development of HIV-exposed uninfected infants in Guangzhou.@*Methods@#Data were from the national information system for prevention of mother-to-child transmission of HIV infection, syphilis and hepatitis B. After excluding death and perinatal HIV infection cases, 564 HIV-exposed uninfected infants were included. The infants were divided into three groups, nevirapine (NVP) group, zidovudine (AZT) group and untreated group. The influences of antiretroviral prophylaxis on the body weight and height of the HIV-exposed uninfected infants were analyzed by using generalized estimating equations.@*Results@#The HIV-exposed uninfected infants at 1-month old had lower Z scores of body weight-for-age and body height-for-age than the World Health Organization’s reference standard. The prevalence of wasting in AZT group (17.5%) was higher than that in NVP group (6.2%) for 1-month old infants. Taking NVP or AZT was a protective factor for Z score of body length-for-age (P<0.05). Intrauterine exposure to triple antiviral drugs was a risk factor for the Z scores of body weight-for-age and body length-for-age (P<0.05).@*Conclusion@#The physical growth and development of HIV-exposed uninfected infants at 1-month old was not well, and HIV-exposed uninfected infants who taking AZT had a higher incidence of wasting. Attention should be paid to these infants.
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Objective To explore the effects of ring finger protein 43 (RNF43) on fibroblast-like synoviocytes (FLS) from patients with rheumatoid arthritis (RA).Methods Synovial tissues from patients with RA treated by knee arthroplasty were used to isolate FLSs by type 2 collagenase.RNF43 lentivirus overexpressing plasmid was constructed and transfected in to RA-FLS.After successful transfection,RNA and super natant of RA-FLS were extracted.QRT-polymerase chain reaction (PCR) and enzyme linked immunosorbent assay (ELISA) were used to detect the mRNA and protein expression levels of matrix metalloproteinase (MMP)-1,MMP-3 and MMP-13.Data were analyzed with Student's t test.Results Transfection efficiency could meet the test requirements when the multiplicity of infection was 40 and was in conjunction with appropriate concentration of polybrene.The mRNA of RNF43 increased for 26158-fold than the control group.In vitro,compared with the control group,RNF43 could significantly inhibit the mRNA of MMP-1,MMP-3 and MMP-13 and MMP-13 [(0.19±0.06),t=28.314,P＜0.05;(0.28±0.07),t=23.413,P＜0.05;(0.21±0.09),t=18.365,P＜0.05]and the protein of MMP-1,MMP-3 and MMP-13 and MMP-13 [(31.0±9.4) pg/ml,(17.1±2.1) pg/ml,t=3.198,P=0.029],MMP-3 [(38.7±8.1) pg/ml,(24.9±3.5) pg/ml,t=3.514,P=0.015],MMP-13 [(35.9±5.4) pg/ml,(20.6±2.9) pg/ml,t=5.632,P=0.001].Conclusion The results of study suggest that RNF43 could inhibit the secretion of MMPs in RA-FLS by suppressing the activity of Wnt signal pathway.
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Objective To study the proliferation and inflammatory phenotypes of human fibroblast-like synoviocytes (FLS) induced by tumor necrosis factor-α(TNF-α). Methods The rheumatoid arthritis (RA)-FLS were cultured in vitro, then treated with different concentrations of diallyl trisulfide (DATS). The proliferation activity was detected by CCK-8 method. Then TNF-α was used to stimulate the RA-FLS, mRNA and protein expression of interleukin (IL)-6, matrix metalloproteinases (MMP)-1 and vascular endothelial growth factor (VEGF) were detected by quantitative real time polymerase chain reaction (qPCR) and enzyme linked immunosorbent assay (ELISA). Differences among groups were determined by one-way analysis of variance (ANOVA), LSD-t test was used for comparison between 2 groups. Results RA-FLS was successfully is-olated and cultured in vitro. The positive rate of CD90 and CD29 in the RA-FLS was more than 90％. The proli-feration activity of RA-FLS treated with 100 μmoL/L, 200 μmol/L and 300 μmol/L DATS was (98.92 ± 0.40)％, (95.91±0.32)％, (94.05±0.24)％, respectively. As Compared with the normal control group, the pro-liferation activity of RA-FLS was lower, and the statistically significant difference is between normal control group 200 μmol/L and 300 μmol/L DATS (t=-4.46, P<0.05; t=-7.98, P<0.05). After TNF-α stimulation, the expression of IL-6's mRNA in experiment group (100μmol/L DATS) is higher compared with the model control group (t=5.74, P<0.05), but the change of IL-6's protein is no significant difference (t=-0.49, P=0.627). The differences of mRNA and protein expression levels of MMP-1 and VEGF between the experiment group (100μmol/L DATS) and the model control group were not statistically significant. The relative mRNA level [(0.42 ± 0.06), t=-23.47, P<0.05;(0.14±0.039), t=-36.59, P<0.05;(0.36±0.09), t=-13.1, P<0.05)] and the protein levels [(108.0±4.7) ng/L, t=-63.79, P<0.05, (26.0±1.0) ng/L, t=-9.68, P<0.05;(57.9±0.7), t=-34.59, P<0.05] of IL-6, MMP-1, VEGF in experiment group (200μmol/L DATS) were significantly decreased. And the relative mRNA level [(0.041 ±0.027), t=-38.48, P<0.05; (0.027 ±0.027), t=-41.22, P<0.05; (0.131 ±0.047), t=-17.74, P<0.05] and the protein levels [(24.2 ±2.3) ng/L , t=-88.69, P<0.05; (22.7 ±1.0) ng/L , t=-14.13, P<0.05; (34.5 ±1.7), t=-48.45, P<0.05] of IL-6, MMP-1, VEGF in the experiment group (300 μmol/L DATS) were also significantly decreased. The difference between the two groups was significant (t=-24.89, P<0.05; t=-4.45, P<0.05; t=-13.87, P<0.05). Conclusion DATS can inhibit the proliferation and the effect of TNF-αinduced secretion of IL-6, MMP-1 and VEGF in RA-FLS. The effect is dose-dependent.
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OBJECTIVE@#To report on a case of 10p15.3 microdeletion syndrome and to explore its clinical and molecular characteristics.@*METHODS@#The patient was subjected to whole exome sequencing (WES), with his clinical features discussed in the light of literature review.@*RESULTS@#The patient presented with global developmental delay, hypotonia, autistic-like traits, mild facial dysmorphism and other features including short stature, small hands and feet, congenital heart disease and feeding difficulty. WES has detected deletions of ZMYND11, DIP2C, LARP4B, TUBB8, GTPBP4, IDI2, IDI1, WOR37 and ADARB2 genes on the short arm of chromosome 10. Among these, ZMYND11 gene been previously associated with intellectual disability.@*CONCLUSION@#The patient's phenotype was closely correlated with that of 10p15.3 microdeletion syndrome. Haploinsufficiency of the ZMYND11 gene may underlie the manifestations of 10p15.3 microdeletion syndrome.
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Humans , Carrier Proteins , Chromosome Deletion , Chromosomes, Human, Pair 10 , Exome , GTP-Binding Proteins , Intellectual Disability , Nuclear Proteins , Phenotype , Tubulin , Exome SequencingABSTRACT
This article summarized nursing experience of 7 cases of carotid body tumors treated by hybrid operation.Key points of nursing included:preoperative carotid compression training,postoperative blood pressure management,head and neck immobilization together with lower extremity immobilization,and prevention and nursing of complications.All patients were recovered and discharged.
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Lysosomes are degradation and signaling centers within the cell, and their dysfunction impairs a wide variety of cellular processes. To understand the cellular effect of lysosome damage, we screened natural small-molecule compounds that induce lysosomal abnormality using Caenorhabditis elegans (C. elegans) as a model system. A group of vobasinyl-ibogan type bisindole alkaloids (ervachinines A-D) were identified that caused lysosome enlargement in C. elegans macrophage-like cells. Intriguingly, these compounds triggered cell death in the germ line independently of the canonical apoptosis pathway. In mammalian cells, ervachinines A-D induced lysosomal enlargement and damage, leading to leakage of cathepsin proteases, inhibition of autophagosome degradation and necrotic cell death. Further analysis revealed that this ervachinine-induced lysosome damage and lysosomal cell death depended on STAT3 signaling, but not RIP1 or RIP3 signaling. These findings suggest that lysosome-damaging compounds are promising reagents for dissecting signaling mechanisms underlying lysosome homeostasis and lysosome-related human disorders.
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Animals , Humans , Alkaloids , Pharmacology , Caenorhabditis elegans , Cell Biology , Metabolism , Cell Death , Cell Survival , HeLa Cells , Lysosomes , Pathology , STAT3 Transcription Factor , Metabolism , Signal TransductionABSTRACT
The ethyl acetate extract of Euphorbia lunulata Bge was separated and researched on anticancer activity about it with in vitro cell experiments,in order to provide a theoretical basis for the exploit and utilization of E.lunulata and more options to develop natural anticancer drugs.Quercetin and Gallic Acid in ethyl acetate were extracted by HPLC,which the ethyl acetate extract of E.lunulata was separated and extracted by solvent system.The MTT was used to measure the inhibition of each component with different concentration from ethyl acetate extract to the 2R-75-30 breast cancer cell.The results showed that Quercetin and Galic Acid of ethyl acetate extract were 19.99％ and 55.04％,respectively.There were 17 component from the ethyl acetate extract,and finally merged into six fractions.Each component (the concentration of 50 μg/ml-150 μg/ml range) from ethyl acetate extract of E.lunulata could inhibit the growth of ZR-75-30 breast cancer cell.And a certain gradient relationship with the drug concentration increased with the inhibition rate enhancement on the 2R-75-30 breast cancer cell's growth.The 2nd fraction showed the highest activity.It was concluded that there were flavonoids and phenolic acids in ethyl acetate extract.Each component from the extract showed inhibition on the growth of breast cancer cell if it was further separated.This study was designed to provide a theoretical basis to exploit the anticancer drugs from E.lunulata.
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Objective To discuss clinical,electroencephalogram(EEG) and PRRT2 gene mutation by reporting a febrile seizure (FS) with paroxysmal kinesigenic dyskinesia (PKD) family.Methods Detailed clinical data of the family were collected.The proband (Ⅳ1) and another 4 patients (Ⅲ1,Ⅲ4,Ⅳ2,Ⅳ3)were studied through clinical examinations.Clinical symptoms of Ⅳ2 were not typical,who was diagnosed as a suspected case.Mutation analysis of PRRT2 gene was screened by polymerase chain reaction (PCR) and DNA direct sequencing in 5 patients (Ⅳ1,Ⅲ1,Ⅲ4,Ⅳ2,Ⅳ3) and 4 unaffected family members (Ⅱ2,Ⅲ2,Ⅲ5,Ⅳ4).Results PKD patients had brief involuntary movements in the limbs or trunk induced by sudden voluntary movement when patients were in the stationary state since the teenagers.Two cases (Ⅲ,Ⅲ4) were accompanied by FS.Three cases(Ⅳ1,Ⅲ1 and Ⅲ4)had abnormal EEG records.The PRRT2 gene mutation (c.649dupC mutation) was identified in a healthy member (Ⅳ4) and 4 patients (Ⅳ1,Ⅲ1,Ⅲ4,Ⅳ3).Conclusions FS with PKD family has a PRRT2 gene mutation.The diagnosis is mainly based on family history,typical clinical manifestations and genetic test.This kind of disease may have pre-symptomatic patients.
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Objective To investigate the effect of comprehensive psychological intervention on cooperation degree with intravenous infusion of preschool children. Methods 240 children patients with intravenous infusion were divided into the observation group and the control group with 120 cases in each group.Children patients in two groups were all given venipuncture by two nurses who had more than 5 years of working experience,skilled venipuncture technique and were good at doing mental work for children.The control group was given intravenous infusion directly after venipuncture without giving any psychological intervention.The observation group was given comprehensive psychological intervention before venipuncture.The different psychological behavioral reactions during the venipuncture were evaluated.The cooperation degree and the first-time success rate of venipuncture for the two groups were taken for statistics. Results The psychological behavioral reactions of the observation group were as followed:the active type was 51.67％,the tension type was 30.83％,and 7.50％ for the type of fear,the compulsive type was 10.00％.Compared with the control group,the difference was significant.The cooperation degree with intravenous infusion was 82.50％,the difference was significant compared with the control group.The first-time success rate in the observation group was 86.67％,higher than 75.83％ in the control group. Conclusions Psychological interventions according to the behavior and psychological reaction of preschool children with intravenous infusion can alleviate the negative emotions and improve the cooperation degree of preschool children.
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OBJECTIVE To strengthen the management for visitors in the newborn nursery,in order to reduce the newborn hospital infection rate and enhance the hospital infection management quality in the newborn nursery.METHODS Taken the air and the object surface sampling in the newborn nursery,and the sampling derived from the hands of staff and visitors to undertake the contrast examination.RESULTS Before and after visits,the air pollution rate was over norm by increase of 58.3%,and after disinfection it declined 75.0%,after visiting,the object surface contamination rate was over norm by 56.3%,after disinfection it fell by 77.1%.Before washing-hands,the bacterial contamination rate of visitors and staff was over norm by respectively 100.0% and 68.3%,after washing,the passing rate of visitors was 92.0%,and no medical staff were over norm.CONCLUSIONS To adopt the effective management for visitors in the newborn nursery is very important to reduce the hospital infection rate in newborn nursery.