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Objective To investigate the correlation between serum levels of prostaglandin-endoperoxide synthase 2(PTGS2),chitinase-3-like protein 1(CHI3L1)and cognitive impairment caused by cerebrovascular disease.Methods From October 2020 to October 2022,96 inpatients with cerebrovascular diseases admitted to the Third People's Hospital of Chengdu were regarded as the study subjects.The basic clinical data of the patients were recorded,the serum levels of PTGS2 and CHI3L1 were detected by enzyme-linked immunosorbent assay,and these patients were grouped into normal group(n=60)and impaired group(n=36)based on the presence or absence of cognitive impairment.The correlation between serum PTGS2 and CHI3L1 levels and fasting blood glucose(FBG)and homocysteine(Hcy)was analyzed by Pearson method.Logistic regression model was used to determine whether serum PTGS2 and CHI3L1 were independent risk factors for predicting cognitive impairment.Receiver operating characteristic(ROC)curve was drawn,and the predictive value of CHI3L1 and serum PTGS2 expression level in cognitive impairment in patients with cerebrovascular disease was analyzed according to the area under the curve(AUC).Results Compared with the normal group,the levels of serum PTGS2(29.30±9.46 pg/ml vs 17.86±5.40 pg/ml)and CHI3L1(13.04±4.06 pg/ml vs 7.51±2.66 pg/ml)in the disorder group were increased,and the differences were statistically significant(t=7.553,8.065,all P<0.05).Multivariate Logistic regression analysis showed that FBG(OR=3.612,95%CI:2.324~5.614),Hcy(OR=2.584,95%CI:1.351~4.944),PTGS2(OR=1.964,95%CI:1.194~3.231)and CHI3L1(OR= 1.556,95%CI:1.023~2.367)were independent risk factors of cognitive impairment(all P<0.05).PTGS2 was positively correlated with FBG and Hcy(r=0.368,0.551,all P<0.05),and CHI3L1 was positively correlated with FBG and Hcy(r=0.510,0.376,all P<0.05).The ROC curve showed that the area under curve(AUC)of PTGS2 and CHI3L1 in predicting cognitive impairment was 0.819 and 0.829,respectively.The AUC of the combined prediction of cognitive impairment was 0.902,which was obviously higher than that of the independent prediction of the two(Z =2.089,2.293;P=0.037,0.021),with sensitivity and specificity of 77.78%and 98.33%,respectively.Conclusion PTGS2 and CHI3L1 were highly expressed in the serum of patients with cognitive impairment of cerebrovascular disease,indicating that both were related to cognitive impairment of patients with cerebrovascular disease.
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OBJECTIVE@#To investigate the anti-inflammatory activity of Radix Panacis quinguefolii root extract (RPQE) and its therapeutic effects on inflammatory bowel disease (IBD).@*METHODS@#The 72-hour post-fertilization zebrafish was used to generate the local and systematic inflammation models through tail-amputation and lipopolysaccharide (LPS)-induction (100 µ g/mL), respectively. The Tg(zlyz:EGFP) zebrafish was induced with 75 µ g/mL 2,4,6-trinitrobenzene sulfonic acid (TNBS) for establishing the IBD model. The tail-amputated, LPS-, and TNBS-induced models were subjected to RPQE (ethanol fraction, 10-20 µ g/mL) administration for 12 and 24 h, respectively. Anti-inflammatory activity of RPQE was evaluated by detecting migration and aggregation of leukocytes and expression of inflammation-related genes. Meanwhile, TNBS-induced fish were immersed in 0.2% (W/V) calcein for 1.5 h and RPQE for 12 h before photographing to analyze the intestinal efflux efficiency (IEE). Moreover, the expression of inflammation-related genes in these fish was detected by quantitative polymerase chain reaction.@*RESULTS@#Subject to RPQE administration, the migration and aggregation of leukocytes were significantly alleviated in 3 zebrafish models (P<0.01). Herein, RPQE ameliorated TNBS-induced IBD with respect to a significantly reduced number of leukocytes, improved IEE, and inhibited gene expression of pro-inflammatory factors (P<0.05 or P<0.01).@*CONCLUSION@#RPQE exhibited therapeutic effects on IBD by inhibiting inflammation.
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Animales , Pez Cebra , Lipopolisacáridos , Modelos Animales de Enfermedad , Enfermedades Inflamatorias del Intestino/metabolismo , Inflamación/tratamiento farmacológico , Antiinflamatorios/uso terapéutico , Ácido Trinitrobencenosulfónico/efectos adversos , Colitis/tratamiento farmacológicoRESUMEN
Background The positive rate of sputum bacteria in patients with pneumoconiosis complicated with pulmonary tuberculosis is lower than that in patients with simple tuberculosis, which makes the disease assessment more difficult. Objective To compare the differences of blood test indexes between patients with pneumoconiosis complicated with bacteriologically negative and bacteriologically positive pulmonary tuberculosis, so as to provide a basis for the assessment of lesions in patients with pneumoconiosis complicated with pulmonary tuberculosis. Methods The relevant information of 329 patients with pneumoconiosis complicated with tuberculosis diagnosed from 2010 to 2020 was retrospectively collected, including 260 cases of pneumoconiosis complicated with bacteriologically negative tuberculosis (B-TB) and 69 cases of pneumoconiosis complicated with bacteriologically positive tuberculosis (B+TB). The demographic characteristics and blood test indexes of the two groups of patients were analyzed and compared, and logistic regression analysis was conducted to identify factors associated with pneumoconiosis complicated with bacteriologically positive tuberculosis. Results Body mass index (BMI) was significantly different between the two groups (P<0.05), and the proportion of BMI≤18.5 kg·m−2 in the pneumoconiosis cases with B+TB was higher than those with B-TB. The levels of platelet count, fibrinogen, white blood cell count, neutrophil count, monocyte count, C-reactive protein, erythrocyte sedimentation rate, and D-dimer in the pneumoconiosis cases with B+TB were higher than those in the pneumoconiosis cases with B-TB (P<0.05); the levels of mean platelet volume, hemoglobin, albumin to globulin ratio, and high-density lipoprotein in the pneumoconiosis with B+TB group were lower than that in the pneumoconiosis with B-TB group (P<0.05). The abnormal rates of other indicators except mean platelet volume, fibrinogen, and high-density lipoprotein were higher in the pneumoconiosis with B+TB group than in the pneumoconiosis with B-TB group (P<0.05). The results of multiple logistic regression showed that C-reactive protein (OR=1.006, 95%CI: 1.001-1.010), platelet count (OR=1.004, 95%CI: 1.002-1.007), and monocyte count (OR=3.461, 95%CI: 1.370-8.745) were associated with positive sputum smear in patients with pneumoconiosis complicated with pulmonary tuberculosis (P<0.05). Conclusion Some blood test indexes show differences between pneumoconiosis complicated with bacteriologically positive patients and pneumoconiosis complicated with bacteriologically-negative tuberculosis patients. C-reactive protein, platelet count, and monocyte count are factors associated with sputum positivity in pneumoconiosis complicated with tuberculosis patients. Monitoring selected indicators of blood test have a certain reference value for the assessment of lesions in patients with pneumoconiosis complicated with tuberculosis.
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OBJECTIVE@#To compare the therapeutic effect of thunder-fire moxibustion combined with vibration training and simple vibration training on low back pain of primary osteoporosis by 's modulus of ultrasonic wave, and seek an objective evaluating method.@*METHODS@#A total of 60 patients were randomized into an observation group and a control group, 30 cases in each one. The patients in the two groups were treated with vibration training using whole body vibration treatment bed. In the observation group, thunder-fire moxibustion was applied at Yaoyangguan (GV 3), Mingmen (GV 4), Ganshu (BL 18), Shenshu (BL 23) and Dachangshu (BL 25). The treatment was given once every other day, 3 times a week for 4 weeks. The visual analogue score (VAS), real-time shear wave elastography (RTSWE) and medical outcomes study 36-item short-form hearth survey (SF-36) were used to evaluate pain intensity, multifidus muscle tone ('s modulus) and quality of life before treatment, after 4-week treatment and 1 month after treatment.@*RESULTS@#Compared before treatment, the VAS scores, 's modulus of multifidus muscle and 5 dimensions of SF-36 (physical condition, body pain, general health, social function and mental health) after 4-week treatment and 1 month after treatment were significantly improved in the two groups (all <0.05), the physiological role in the observation group after 4-week treatment and 1 month after treatment were improved (both <0.05). In the observation group, the VAS scores, 's modulus of multifidus muscle and 3 dimensions of SF-36 (physiological role, body pain and general health) after 4-week treatment and 1 month after treatment were superior to the control group (all <0.05).@*CONCLUSION@#The therapeutic effect of thunder-fire moxibustion combined with vibration training is superior to simple vibration training in relieving low back pain intensity and multifidus muscle tone, and improving quality of life for primary osteoporosis. RTSWE technique can be an objective examination method to evaluate pain.
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Humanos , Puntos de Acupuntura , Dolor de la Región Lumbar , Terapéutica , Moxibustión , Osteoporosis , Calidad de Vida , Resultado del Tratamiento , VibraciónRESUMEN
The goal of this work was to establish a population pharmacokinetics (PPK) model of tacrolimus in idiopathic membranous nephropathy (IMN) patients and to identify potential covariates that influence pharmacokinetic of tacrolimus. A total of 610 data points on the blood concentration of tacrolimus were collected from 96 IMN patients in routine clinical settings. Nonlinear mixed-effect modeling (NONMEM) was used to investigate the effects of CYP3A5 genotype, age, gender, weight, laboratory tests and co-therapy medications on the pharmacokinetic of tacrolimus. The PPK model was evaluated by the goodness-of-fit (GOT), bootstrap and prediction corrected visual predictive check (pc-VPC). The pharmacokinetic of tacrolimus was described by a one-compartment model. The apparent clearance (CL/F) of CYP3A5*1/*3 and *1/*1 were 1.57 and 1.86 times of that of *3/*3, respectively. The CL/F of tacrolimus was 73.6% in patients undergoing co-therapy with Wuzhi capsules, and 1.2 times than that of the patients undergoing co-therapy with Jinshuibao capsules. The evaluation of the model shows that the model is stable and has satisfactory predictive performance. The clinical trial was approved by the Society of Ethics and conducted in Binzhou Medical University Hospital. The established PPK model can describe the pharmacokinetic characteristics of tacrolimus in Chinese patients with IMN, and can facilitate individualized therapy with tacrolimus.
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Objective :To explore therapeutic effect of insulin pump combined alprostadil on diabetic peripheral neu-ropathy (DPN) in aged patients .Methods : A total of 134 aged DPN patients treated in our hospital were selected and randomly , equally divided into routine treatment group and combined treatment group (received insulin pump combined alprostadil based on routine treatment ) ,both groups were treated for two weeks .Therapeutic effect ,lev-els of blood lipids ,serum superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) before and after treat-ment were compared between two groups .Results : After treatment , total effective rate of combined treatment group was significantly higher than that of routine treatment group (92-5% 比74-6%, P=0-005).Compared with routine treatment group after treatment ,there were significant rise in serum levels of SOD [ (78-54 ± 9-48) nU/ml vs.(88-29 ± 9-08) nU/ml] ,GSH-Px [(486-53 ± 32-84) U/L vs.(552-31 ± 89-86) U/L] and high density lipopro-tein cholesterol [HDL-C ,(5-88 ± 1-48) mmol/L vs.(6-59 ± 1-63) mmol/L] ,and significant reductions in serum levels of triglyceride [TG ,(2-05 ± 0-34) mmol/L vs.(1-35 ± 0-26) mmol/L] and low density lipoprotein choles-terol [LDL-C ,(3-48 ± 0-48 ) mmol/L vs.(2-48 ± 0-88 ) mmol/L ] in combined treatment group , P= 0-001 all. Conclusion : Insulin pump combined alprostadil possess significant therapeutic effect on aged DPN patients .It can significantly improve blood lipid levels ,and relieve oxidative stress state ,which is worth extending .
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OBJECTIVE@#The endothelial glycocalyx (eGC) is a dynamic and multicomponent layer of macromolecules found at the surface of vascular endothelium, which is largely underappreciated. It has recently been recognized that eGC is a major regulator of endothelial function and may have therapeutic value in organ injuries. This study aimed to explore the role of the eGC in various pathologic and physiologic conditions, by reviewing the basic research findings pertaining to the detection of the eGC and its clinical significance. We also explored different pharmacologic agents used to protect and rebuild the eGC.@*DATA SOURCES@#An in-depth search was performed in the PubMed database, focusing on research published after 2003 with keywords including eGC, permeability, glycocalyx and injuries, and glycocalyx protection.@*STUDY SELECTION@#Several authoritative reviews and original studies were identified and reviewed to summarize the characteristics of the eGC under physiologic and pathologic conditions as well as the detection and protection of the eGC.@*RESULTS@#The eGC degradation is closely associated with pathophysiologic changes such as vascular permeability, edema formation, mechanotransduction, and clotting cascade, together with neutrophil and platelet adhesion in diverse injury and disease states including inflammation (sepsis and trauma), ischemia-reperfusion injury, shock, hypervolemia, hypertension, hyperglycemia, and high Na as well as diabetes and atherosclerosis. Therapeutic strategies for protecting and rebuilding the eGC should be explored through experimental test and clinical verifications.@*CONCLUSIONS@#Disturbance of the eGC usually occurs at early stages of various clinical pathophysiologies which can be partly prevented and reversed by protecting and restoring the eGC. The eGC seems to be a promising diagnostic biomarker and therapeutic target in clinical settings.
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Animales , Humanos , Bases de Datos Factuales , Endotelio Vascular , Metabolismo , Patología , Glicocálix , Metabolismo , Patología , Resistencia al CorteRESUMEN
<p><b>OBJECTIVE</b>To reduce health-related threats of heat waves, interventions have been implemented in many parts of the world. However, there is a lack of higher-level evidence concerning the intervention efficacy. This study aimed to determine the efficacy of an intervention to reduce the number of heat-related illnesses.</p><p><b>METHODS</b>A quasi-experimental design was employed by two cross-sectional surveys in the year 2014 and 2015, including 2,240 participants and 2,356 participants, respectively. Each survey was designed to include one control group and one intervention group, which conducted in Licheng, China. A representative sample was selected using a multistage sampling method. Data, collected from questionnaires about heat waves in 2014 and 2015, were analyzed using a difference-in-difference analysis and cost effectiveness analysis. Outcomes included changes in the prevalence of heat-related illnesses and cost-effectiveness variables.</p><p><b>RESULTS</b>Relative to the control participants, the prevalence of heat-related illness in the intervention participants decreased to a greater extent in rural areas than in urban areas (OR=0.495 vs. OR=1.281). Moreover, the cost-effectiveness ratio in the intervention group was less than that in the control group (US$15.06 vs. US$15.69 per participant). Furthermore, to avoid one additional patient, the incremental cost-effectiveness ratio showed that an additional US$14.47 would be needed for the intervention compared to when no intervention was applied.</p><p><b>CONCLUSION</b>The intervention program may be considered a worthwhile investment for rural areas that are more likely to experience heat waves. Meanwhile, corresponding improving measures should be presented towards urban areas. Future research should examine whether the intervention strategies could be spread out in other domestic or international regions where heat waves are usually experienced.</p>
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Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , China , Epidemiología , Redes Comunitarias , Análisis Costo-Beneficio , Estudios Transversales , Trastornos de Estrés por Calor , Epidemiología , Calor , Modelos Logísticos , PrevalenciaRESUMEN
Objective To validate the effectiveness of the Chinese version of the EORTC QLQ‐OES18 in the patients with e‐sophageal cancer .Methods The QLQ‐OES18 questionnaire was used to assess the quality of life in 112 patients with esophageal cancer .The results of various items were statistically analyzed by adopting the Cronbach′s coefficient ,Spearman correlation analy‐sis ,multiple strengthen analysis and Wilcoxon Rank Sum test .Results The Cronbach′sαcoefficient of four multi‐item dimensions (dysphagia ,eating ,reflux and pain) was 0 .607-0 .822 ,moreover the correlation coefficients of all items with their own dimensions were more than those of other dimensions .The absolute values of correlation coefficients in each dimension between EORTC QLQ‐OES18 and EORTC QLQ‐C30 were 0 .002-0 .538 .The difference of swallowing item among the groups by KPS scores had statisti‐cal significance (P<0 .05) .Conclusion EORTC QLQ‐OES18 scale has better credibility and validity ,and can be used for evalua‐ting the quality of life in the patients with esophageal cancer .
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Objective To explore the relationship between fasting serum concentration of uric acid (SUA)and the secretion of insulin under oral glucose tolerance test(OGTT)in 877 eligible subjects.Methods A 75g OGTT was administrated to all 877 eligible subjects,fasting uric acid,concentration of glucose and insulin of 0,30,60,120 and 180 min utes after OGTT were measured.Subjects were divided into high SUA group (HUA)and normal SUA group (NUA)according the concen-tration of SUA.SPSS 13.0 were used to analyze these data.Results Subjects in HUA had higher concentration of insulin in 0,30,60,120 and 180 min utes than NUA.There were positive correlation between SUA and INS in 0,30,60,120 and 180 min utes,Pearson r-value was 0.107,0.154,0.195,0.157 and 0.112(all P <0.01)respectively.By stepwise linear regression analyze,there were four parameters correlated with SUA:gender(female),INS60,cholesterol (TC),high density lipoprotein (HDL),β-vaule was -0.214,0.194,0.253,-0.119 (all P <0.01)respectively.Conclusion SUA positive correlated with secretion of INS after glycemia burden,SUA may be used as a potential biomark of secretin of INS (especially the concentra-tion of INS 60).
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BACKGROUND: Henoch-Schonlein purpura (HSP) is an immune complex-mediated disease predominantly characterized by the deposition of circulating immune complexes containing immunoglobulin A (IgA) on the walls of small vessels. Although the pathogenesis of HSP is not yet fully understood, some researchers proposed that B-cell activation might play a critical role in the development of this disease. OBJECTIVE: To investigate the serum levels of visfatin (pre-B-cell colony-enhancing factor), B-cell-activating factor (BAFF), and CXCL13, and to analyze their association with disease severity. METHODS: The serum levels of visfatin, BAFF, and CXCL13 were measured by using a double-antibody sandwich enzyme-linked immunosorbent assay (ELISA) in 43 patients with HSP and 45 controls. The serum levels of IgA anticardiolipin antibodies (ACA) were detected by using a double-antigen sandwich ELISA. RESULTS: Levels of visfatin but not BAFF and CXCL13 were significantly elevated in the sera of patients with HSP in the acute stage, and restored to normal levels in the convalescent stage. Furthermore, serum levels of visfatin were significantly higher in patients with HSP having renal involvement than in those without renal involvement. Serum levels of visfatin were correlated with the severity of HSP and serum concentration of ACA-IgA. CONCLUSION: We show for the first time that the serum levels of visfatin are abnormally elevated in patients with HSP. Visfatin may be associated with the pathogenesis of HSP.
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Humanos , Anticuerpos Anticardiolipina , Complejo Antígeno-Anticuerpo , Factor Activador de Células B , Linfocitos B , Quimiocina CXCL13 , Ensayo de Inmunoadsorción Enzimática , Inmunoglobulina A , Nicotinamida Fosforribosiltransferasa , Vasculitis por IgARESUMEN
Objective: To explore the effect of atorvastatin (Atv) on high glucose-induced oxidative stress injury in human umbilical vein endothelial cells (HUVECs) by SIRT1/NADPH oxidase pathway with the possible mechanisms. Methods: HUVECs were cultured in low glucose medium and then divided into 6 experimental groups:①Normal group,②Osmotic pressure control group,③High glucose (HG) group,④HG+Atv (0.1, 1.0, 10.0)μmol/L group,⑤HG+sirtinol (SIRT1 inhibitor) group,⑥HG+apocynin (NOX4 inhibitor) group, and HUVECs were further cultured for 24 hours. The cell proliferation was examined by CCK-8 kit, ROS level was detected by lfow cytometry method, protein expressions of SIRT1 and NOX4 were measured by Western blot analysis. Results: ① Compared with Normal group, HG group had decreased HUVECs proliferation, Atv improved the HG inhibited proliferation in a does dependent manner. ② HG group had the higher level of ROS, increased NOX4 protein expression and decreased SIRT1 protein expression. ③ In HG condition, Atv up-regulated SIRT1 expression and down-regulated ROS and NOX4 expressions in a does dependent manner.④In HG condition, sirtinol decreased SIRT1 expression, increased NOX4 expression, and apocynin decreased NOX4 expression, while it had no inlfuence on SIRT1 expression. Conclusion: Atorvastatin could resist HG-induced oxidative stress injury in HUVECs, which might be related to up-regulated SIRT1 expression, and SIRTI plays the role in NADPH oxidase at upstream.
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<p><b>OBJECTIVE</b>To study the progression of myopia in school-age children over the past 12 years and factors influencing myopia progression.</p><p><b>METHODS</b>A total of 4569 cases of 5 to 12-year-old children who had refractive examinations in the Third Xiangya Hospital, Central South University between January 2000 and December 2011 were enrolled in this study. The children had no family history of congenital high myopia or other eye diseases. Myopia progression was evaluated when the children were re-examined. The refractive state of each child was measured with cyclopiegic retinoscopy.</p><p><b>RESULTS</b>The mean spherical equivalent (SE) myopia was-2.0±1.7 D between January 2000 and December 2011. There was no statistical difference in yearly myopia progression between different years. The average age of the myopic children decreased from 10.1 in 2000 to 8.9 years old in 2011 (P<0.05). Mean myopia progression was -0.6±0.7 D per year from 2000 to 2011. Myopia progression reduced gradually in 5 to 8-year-olds (P<0.05), however, it accelerated between ages 9 and 11 years. Myopia progression in 10- and 11-year-olds was significantly greater than in 7- and 8-year-olds (P<0.01). The multiple linear regression analysis demonstrated that age and baseline myopic refraction were positively related to myopia progression.</p><p><b>CONCLUSIONS</b>There was no obvious change in the yearly myopia progression of the children over the past 12 years. The mean age of myopia occurrence became younger with time. More preventive measures are needed to ward off high myopia in children with moderate myopia, especially those aged over 10 years.</p>
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Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Progresión de la Enfermedad , Modelos Lineales , Miopía , Estudios RetrospectivosRESUMEN
<p><b>OBJECTIVE</b>To investigate the association of the polymorphisms of methionine metabolism genes and the phenotype of X-linked adrenoleukodystrophy (X-ALD) and clinical severity.</p><p><b>METHODS</b>The clinical information of 120 X-ALD patients were analyzed and three genetic variants involved in the methionine metabolism, including cystathionine beta-synthase (CBS) c.844_855ins68, 5-methyltetrahydrofolate-homocysteine-S-methyltransferase (MTR) c.2756A to G, and transcobalamin 2 (TC2) c.776 C to G were analyzed by polymerase chain reaction and sequencing. The association between these polymorphisms and phenotype of X-ALD was studied.</p><p><b>RESULTS</b>The frequency of GG genotype of the TC2 c.776 C/G was higher in patients with central nervous system(CNS) demyelination than in controls (P= 0.012). However, the other two polymorphisms did not show any significant associations with the phenotypes.</p><p><b>CONCLUSION</b>The GG genotype of TC2 c.776 C/G may contribute to X-ALD phenotype.</p>
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Humanos , Masculino , 5-Metiltetrahidrofolato-Homocisteína S-Metiltransferasa , Genética , Adrenoleucodistrofia , Genética , Cistationina betasintasa , Genética , Frecuencia de los Genes , Genotipo , Metionina , Metabolismo , Fenotipo , Polimorfismo Genético , Transcobalaminas , GenéticaRESUMEN
<p><b>OBJECTIVE</b>To identify the parental origin of methyl-CpG-binding protein 2 (MECP2) gene mutations in Chinese patients with Rett syndrome.</p><p><b>METHODS</b>Single nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome. Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP, to determine which allele was from the father. Then allele-specific PCR was performed and the products were sequenced to see whether the allele from father or mother harbored the mutation.</p><p><b>RESULTS</b>Seventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: IVS3+22C >G, IVS3+266C >T and IVS3+683C>T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation of the paternal origin, including 4 frame shift, 2 deletion and 67 point (56C >T, 6C >G, 2A >G, 2G >T and 1A >T) mutations. The mutation types of the 3 patients with maternal origin included 2 frame shift and 1 point (C >T) mutation.</p><p><b>CONCLUSION</b>In Chinese RTT patients, the MECP2 mutations are mostly of paternal origin.</p>
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Preescolar , Femenino , Humanos , Masculino , Secuencia de Bases , Análisis Mutacional de ADN , Padre , Proteína 2 de Unión a Metil-CpG , Genética , Madres , Mutación , Genética , Padres , Polimorfismo de Nucleótido Simple , Síndrome de Rett , GenéticaRESUMEN
<p><b>OBJECTIVE</b>Rett syndrome (RTT) is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. The aim of this study was to investigate the correlation between MECP2 genotype and phenotype and thereby not only to provide assistance for clinical care, but also facilitate clinical genetic counseling.</p><p><b>METHOD</b>Individual phenotype characteristic and clinical severity of 126 children with RTT diagnosed by molecular genetic methods were evaluated by using scales of Kerr et al and Scala et al. Statistical package SPSS 12.0 was used for analyses of data. Since the majority of the data were not normally distributed, non-parametric tests were used. The Kruskal-Wallis test/Wilcoxon Mann-Whitney test was employed to compare total severity phenotype scores. The Fisher exact test was used for comparing rates. Statistical significance was set at P < 0.05.</p><p><b>RESULT</b>There were no significant differences in the average overall scores for RTT patients with mutations in the region of methyl-CpG-binding domain (MBD) compared with those mutations in the transcription repression domain (TRD) and C terminal segment (CTS), also patients with nonsense mutations compared with missense mutations, frameshift mutations and large deletions (P > 0.05). The RTT patients with nonsense mutations located in the region of MBD have more severe phenotype than those with missense mutations in the same region (P = 0.016). Among p.T158M, p.R168X, c.806delG and p.R255X, there were no significant differences in the average overall scores (P > 0.05), but there were significant differences in language skill (P = 0.028) and in language impairment rate at different level (P = 0.019).</p><p><b>CONCLUSION</b>There are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment.</p>
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Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Genotipo , Proteína 2 de Unión a Metil-CpG , Genética , Fenotipo , Síndrome de Rett , GenéticaRESUMEN
<p><b>OBJECTIVE</b>Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that affects females almost exclusively, caused by mutations in MECP2 gene on chromosome Xq28, with symptoms such as autism, severe mental deficiency, deceleration of head growth, ataxia, loss of purposeful hand function and characteristic stereotypic hand movements. Over 80% MECP2 mutations located in the exon 3 and exon 4 were confirmed by our work and large-scale studies. RTT is defined based on clinical presentation. It is difficult to diagnose in the early life without definite biochemical abnormality, but genetic test is helpful for this. The aim of this study was to investigate the feasibility and clinical significance of applying long range polymerase chain reaction (PCR) to RTT diagnosis and establish a simple, economic, efficient method of genetic diagnosis.</p><p><b>METHOD</b>Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes of each patient. Long range polymerase chain reaction(PCR)and DNA direct sequencing were employed to analyze the exon 3 and 4 of MECP2 gene simultaneity in 40 patients with RTT. The PCR products were checked by using 1.5% agarose gel.</p><p><b>RESULT</b>In total, 18 different MECP2 mutations were identified in 33 of the 40 diagnosed sporadic female patients with RTT. Missense mutations were 16, followed by 14 nonsense mutations and 3 deletions. The 314 base pairs large deletion was identified. The p. T158M mutation (21%, 7/33) was the most common, followed in order of frequency by p. R255X (12%, 4/33), p. R168X and p. R106W (9%, 3/33) respectively, p. R270X and p. Y141X (6%, 2/33) respectively, p. R133C, p. D156H, p. P157L, p. P225R, p. Q244X, p. Q262X, p. R294X, p. R306C, P322L, c. 1005del G, c.1005-1318del 314 bp and c.1127-1179del 53 bp (3%, 1/33), respectively.</p><p><b>CONCLUSION</b>Long range PCR is a simple, economic, quick, precise method of genetic diagnosis and was able to find 83% MECP2 gene mutations in RTT patients in this study. It is helpful for RTT clinical diagnosis in early stage. On the other hand, it may detect recurrent mutations and large deletions at the same time.</p>
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Niño , Preescolar , Femenino , Humanos , ADN , Exones , Genética , Proteína 2 de Unión a Metil-CpG , Genética , Mutación , Reacción en Cadena de la Polimerasa , Métodos , Síndrome de Rett , Diagnóstico , GenéticaRESUMEN
OBJECTIVE To discuss the practicality of using the nylon nets,which are derived from disposed used medical(suture-band).The nylon nets were attached to the filtering apparatus on original return-wind exit on the lateral wall of surgical operating room.METHODS The velocity of wind,concentration of bacteria and the total(particle) amount of dust were determined by contrasting the number determined before and after passing the nylon nets on the(filtering) apparatus return-wind exit.RESULTS There was no evidence to influence the cleaning and temperature(regulating) effects of air conditioner by binding the nylon nets on them.CONCLUSIONS This method appears to save time as well as energy to work more efficiently than cleaning air conditioners weekly.