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1.
Chinese Journal of Blood Transfusion ; (12): 423-427, 2023.
Artículo en Chino | WPRIM | ID: wpr-1004839

RESUMEN

【Objective】 To screen the risk factors of severe postpartum hemorrhage that can be found at 32 weeks of pregnancy through univariate and multivariate analysis and establish the risk prediction diagram. 【Methods】 A retrospective analysis was performed on pregnant women who gave birth and received blood transfusion in Women's Hospital of Nanjing Medical University from 2019 to 2021. According to the blood transfusion volume during and after operation, the patients were divided into low/moderate transfusion group (transfusion volume <2 000 mL) and massive-transfusion group (transfusion volume ≥2 000 mL), and the basic information of puerperal, single high risk factor, measures of operation and use of blood preparations were recorded. The differences of physiological and pathological factors between the low/moderate transfusion group and the massive transfusion group were analyzed by univariate analysis. Multivariate analysis and nomogram were performed on the statistically significant factors to calculate the consumption of blood components and hemostatic measures in the massive transfusion group. 【Results】 There were significant differences in age, number of pregnancies, advanced age at first delivery, history of abortion, scar uterus, pernicious placenta previa, placenta accreta, eclampsia/pre-eclampsia and acquired coagulopathy between the low/moderate transfusion group (n=930) and the massive transfusion group (n=108) (P<0.05), among which the number of pregnancies, advanced age for the first delivery, pernicious placenta previa, placenta accreta, and eclampsia/pre-eclampsia were independent risk factors for severe postpartum hemorrhage at 32 weeks of gestation. The scores of risk factors for massive blood transfusion from high to low were placenta accreta, primiparity at advanced age, eclampsia/pre-eclampsia, pernicious placenta previa, number of pregnancies≥4 and scar uterus. 【Conclusion】 The possibility of severe postpartum hemorrhage can be accurately evaluated in the third trimester (around 32 weeks) by univariate analysis, multivariate analysis and nomogram drawing. Among the puerpera underwent blood transfusion, the risk factors for massive hemorrhage included pregnancies ≥4 times, primiparity at advanced age, pernicious placenta previa, placenta accreta, and eclampsia/pre-eclampsia. The model based on these factors has a good prediction effect on massive hemorrhage.

2.
Chinese Journal of Neurology ; (12): 404-411, 2023.
Artículo en Chino | WPRIM | ID: wpr-994846

RESUMEN

Objective:To analyze the clinical phenotype and genotype characteristics of children with pyridoxine-dependent epilepsy (PDE) and provide evidence for diagnosis.Methods:Clinical data of 3 children with PDE enrolled in the Department of Neurology of Hunan Children′s Hospital from July 2016 to December 2020 were collected, and whole-exome sequencing (WES) was used for analysis. Pathogenic variants were analyzed and screened using bioinformatics tools combined with clinical phenotype. Sanger sequencing was used to analyze the source of mutations in children′s core family members.Results:Cases 1 (female) and 2 (male) were siblings, both of whom had convulsions within 24 hours after birth. WES results showed that the siblings carried compound heterozygous mutations of c.796C>T (p.R266 *) and c.1553G>C (p.R518T) in the ALDH7A1 gene, coming from the father and mother of the siblings respectively. Both of the mutations have been reported as pathogenic. Case 3, female, developed convulsions at the age of 1. WES results revealed that she carried compound heterozygous mutations of c.1094-109T>A and c.7C>T (p.R3C) in the ALDH7A1 gene, coming from her father and mother respectively. After searching HGMDPro, PubMed, 1000 Genomes, and dbSNP databases, both of the 2 mutations of c.1094-109T>A and c.7C>T (p.R3C) were not reported. The pathogenicity predictions of the 2 mutations were carried out by different biological information analysis software. The results showed that both of the mutations were harmful. All the 3 children had no epileptic seizures after treatment with increased doses of vitamin B6. Conclusions:When infants have unexplained convulsions, especially in the neonatal stage, PDE caused by ALDH7A1 gene mutation should be considered. Pyridoxine precision treatment has a good effect. The 2 de novo mutations of c.1094-109T>A and c.7C>T (p.R3C) enrich the mutation spectrum in the ALDH7A1 gene. WES has the auxiliary significance in the diagnosis of epilepsy.

3.
Chinese Journal of Applied Clinical Pediatrics ; (24): 384-386, 2023.
Artículo en Chino | WPRIM | ID: wpr-990048

RESUMEN

Clinical data of a child with high blood ammonia and suspected argininosuccinate synthetase deficiency (ASSD) in Hunan Children′s Hospital were retrospectively analyzed, including data of mass spectra for blood amino acids and acyl carnitine, urine organic acid analysis and whole exome sequencing.After the exact diagnosis of ASSD and being approved by the Administrative Regulation for Import Medical Devices Urgently Needed in Boao Lecheng International Medical Tourism Pilot Zone of Hainan Free Trade Port, the patient was medicated with Glyceryl phenylbutyrate (GPB) and followed up.The patient was a boy aged 7 years and 8 months, who presented at the Neurology Department of Hunan Children′s Hospital for sleepiness, abnormal mental behavior and personality change for 1 week on December 2, 2021.Before GPB treatment, the highest blood ammonia, alanine aminotransferase and aspartate transaminase were 325.2 μmol/L, 465.7 IU/L and 277.3 IU/L, respectively.Genetic metabolism assay of blood and urine showed a significantly increased citrulline at 697.42 μmol/L; urine organic acid analysis showed increased urinary orotic acid at 144.2 μmol/L, and increased uracil at 65.1 μmol/L.A pure heterozygous variant of the ASS1 gene (c.1087C>T, p.R363W) was detected.After GPB treatment, the blood ammonia levels were 21.3 μmol/L, 54.6 μmol/L and 62.4 μmol/L on the 41 st, 90 th and 146 th days, respectively.Until July 20, 2022 follow-up visit, the patient recovered well without adverse events.This was the first ASSD child in China who was treated with GPB.This case report provided therapeutic experience of ASSD in our country.ASSD has a high mortality rate and unexplained abnormal mental behavior.It is necessary to timely measure blood ammonia, and a series of urea cycle disorders should be well concerned.The diagnosis and management of ASSD rely on the data of metabolism examination and genetic testing.

4.
Chinese Journal of Medical Genetics ; (6): 413-418, 2023.
Artículo en Chino | WPRIM | ID: wpr-981763

RESUMEN

OBJECTIVE@#To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease.@*METHODS@#A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES). Bioinformatics tools were used to analyze the pathogenic variants. Candidate variants were verified by Sanger sequencing of the child and her parents.@*RESULTS@#WES revealed that the child has harbored compound heterozygous variants of the FDXR gene, namely c.310C>T (p.R104C) and c.235C>T (p.R79C), which were inherited from her father and mother, respectively. Neither variant has been reported in HGMD, PubMed, 1000 Genomes, and dbSNP databases. Both of the variants have been suggested as deleterious according to the prediction results from different bioinformatics analysis software.@*CONCLUSION@#Mitochondrial diseases should be suspected for patients with multiple system involvement. The compound heterozygous variants of the FDXR gene probably underlay the disease in this child. Above finding has enriched the spectrum of FDXR gene mutations underlying mitochondrial F-S disease. WES can facilitate the diagnosis of mitochondrial F-S disease at the molecular level.


Asunto(s)
Femenino , Humanos , Niño , Secuenciación del Exoma , Enfermedades Mitocondriales/genética , Madres , Mutación , Fenotipo
5.
Chinese Journal of Medical Genetics ; (6): 385-389, 2023.
Artículo en Chino | WPRIM | ID: wpr-981758

RESUMEN

OBJECTIVE@#To explore the clinical phenotype and genetic basis of a child with early onset neurodevelopmental disorder with involuntary movement (NEDIM).@*METHODS@#A child who presented at Department of Neurology of Hunan Children's Hospital on October 8, 2020 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Whole exome sequencing (WES) was carried out for the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was searched from the CNKI, PubMed and Google Scholar databases to summarize the clinical phenotypes and genetic variants of the patients.@*RESULTS@#This child was a 3-year-and-3-month boy with involuntary trembling of limbs and motor and language delay. WES revealed that the child has harbored a c.626G>A (p.Arg209His) variant of the GNAO1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. The variant had been reported in HGMD and ClinVar databases, but not in the dbSNP, ExAC and 1000 Genomes databases. Prediction with SIFT, PolyPhen-2, and Mutation Taster online software suggested that the variant may be deleterious to the protein function. By UniProt database analysis, the encode amino acid is highly conserved among various species. Prediction with Modeller and PyMOL software indicated that the variant may affect the function of GαO protein. Based on the guideline of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic.@*CONCLUSION@#The GNAO1 gene c.626G>A (p.Arg209His) variant probably underlay the NEDIM in this child. Above finding has expanded the phenotypic spectrum of GNAO1 gene c.626G>A (p.Arg209His) variant and provided a reference for clinical diagnosis and genetic counseling.


Asunto(s)
Humanos , Biología Computacional , Asesoramiento Genético , Genómica , Mutación , Trastornos del Neurodesarrollo/genética , Discinesias , Subunidades alfa de la Proteína de Unión al GTP Gi-Go
6.
Chinese Journal of Medical Education Research ; (12): 1548-1553, 2022.
Artículo en Chino | WPRIM | ID: wpr-955710

RESUMEN

Objective:To explore the application and effect of teaching and anti-teaching system in clinical skills teaching of the standardized residents training.Methods:Forty pediatric residents of Batch 2018 in Hunan Children's Hospital were randomly divided into the conventional teaching group and the teaching and anti-teaching teaching group, 20 in each group. All of them received the skills training for medical licensing examination. A comparative analysis of the teachers' on-site training time, and the time of mastering individual skill, the skill operation ability, and the comprehensive ability in the two groups was conducted. In addition, teachers and students' satisfaction with teaching and anti-teaching system was investigated by Wenjuanxing, a platform providing questionnaire survey. SPSS 17.0 software was used for t-test and Chi-square test. Results:The teachers' on-site training time [(21.75±3.24) min vs. (48.65±2.91) min] and the residents' time of mastering skills and knowledge [(20.46±3.57) min vs. (30.24±4.73) min] in the teaching and anti-teaching teaching group were shorter than those in the conventional teaching group ( P < 0.05). The scores of clinical skills [(92.96±5.21) points vs. (84.13±3.28) points] and the comprehensive ability [(91.23±5.06) points vs. (85.23±5.72) points] of the residents in the teaching and anti-teaching teaching group were higher than those in the conventional teaching group ( P<0.05). The questionnaire survey showed that the residents had a positive attitude towards the teaching and anti-teaching teaching. They believed that it had the advantage of facilitating full-dimensional viewing of the operation, improving the learning interest, and achieving better learning effect for the residents. Conclusion:The application of teaching and anti-teaching system in the standardized training of residents in children's hospitals can make up for the rare adult clinical operation learning opportunities in children's hospitals, rapidly improve the professional skills of residents, improve the passing rate of medical licensing examination, and help to improve the post competency of residents.

7.
Chinese Journal of Medical Education Research ; (12): 964-967, 2020.
Artículo en Chino | WPRIM | ID: wpr-865914

RESUMEN

Objective:To explore the application and effect of the teaching of standardized residency training based on the skill module tutorial system.Methods:Through the selection and employment of skill module tutorial system, 45 pediatric residents of batch 2016 in Hunan Children's Hospital were trained from such aspects of their professional theoretical knowledge, the skill operation ability and comprehensive ability were compared and analyzed. In addition, through the questionnaire survey, the training residents gave feedback to the skill mentors, and the passing rates of graduation skills examination in 2017, 2018 and 2019 of Pediatric residents in our hospital were analyzed and compared. T test and chi-square test were performed by SPSS 17.0.Results:After the training of the skill module tutorial system, the professional theoretical knowledge score (86.45±7.59), skill operation score (89.78±6.04) and comprehensive ability score (84.09±8.43) were significantly higher than those before the training ( P<0.05). The passing rate of the first graduation skills examination in 2019 was 93.33%, which was significantly higher than 57.14% in 2017, with a significant difference between the two groups ( χ2=28.45, P<0.01), compared with the rate of 2018(80.00%), which also had a statistical difference ( χ2=6.365, P<0.05). Conclusion:The training method of skill module tutorial system is not only helpful to rapidly improve the professional skills and post competency for the residents, but also benefit for training of teachers and improvement of their comprehensive quality, which is worth popularizing and applying.

8.
Chinese Journal of Oncology ; (12): 81-84, 2018.
Artículo en Chino | WPRIM | ID: wpr-806110

RESUMEN

The accumulation of genomic and epigenetic changes gives rise to the tumorigenesis and progression. Currently, clonal evolution model and cancer stem cell model, two leading theories of caner origin, are becoming complementary to one another to explain the nature of tumor heterogeneity. Precision medicine that is based on the next generation sequencing and big data describes the phenomena of tumor heterogeneity more precisely. The future cancer therapy may need more comprehensive and dynamical understandings of the distinct subclones of tumor and follow the trends of cancer evolution.

9.
Chinese Journal of Geriatric Heart Brain and Vessel Diseases ; (12): 268-270, 2018.
Artículo en Chino | WPRIM | ID: wpr-709109

RESUMEN

Objective To study the association between morning surge (MS) of systolic blood pressure (SBP) and white matter lesions in elderly essential hypertensive (EH) patients.Methods Three hundred and thirty-seven elderly EH patients from Zhangqiu of Shandong Province were divided into MS group (n=150) and non-MS group (n=187).Their 24 h ambulatory SBP was monitored.Their white matter hyperintensity (WMH) was assessed according to their brain MRI.Results The total WMH,periventricular WMH,and deep WMH were significantly higher in MS group than in non-MS group (P<0.01).The MS of SBP was positively related with the total WMH,periventricular WMH,and deep WMH (r=0.561,r=0.563,r=0.283,P<0.01),and was an independent risk factor for total WMH,periventricular WMH,and deep WMH after adjustment for confunders (r=0.479,r=0.486,r=0.208,P<0.01).Conclusion MS of SBP is an independently risk factor for WMH in elderly EH patients.

10.
Chinese Journal of Geriatric Heart Brain and Vessel Diseases ; (12): 4-7, 2018.
Artículo en Chino | WPRIM | ID: wpr-709059

RESUMEN

Objective To study the effect of masked hypertension (MH) and white coat hypertension (WCH) on vascular elasticity and endothelial function in elderly patients.Methods Four hundred and eighty-seven elderly patients who underwent physical examination in our our hospital were divided into normotension group (n=128),WCH group (n=115),MH group (n=112) and hypertension group (n=132) according to their diagnostic office blood pressure and 24 h ambulatory blood pressure.The brachial artery FMD,serum NO and endothelin-1 (ET-1) levels,and cfPWV were measured.Results The FMD and serum NO level were significantly lower while the serum ET-1 level and cfPWV were significantly higher in WCH group,MH group and hypertension group than in normotension group (P<0.05).The FMD and serum NO level were significantly higher while the serum ET-1 and cfPWV were significantly lower in WCH group and MH group than in hypertension group (P< 0.05).Multivariate linear stepwise regression analysis showed that WCH,MH and hypertension were the independent influencing factors for FMD,serum NO and ET-1 level and cfPWV with normotension used as reference after adjustment of confounding factors (P<0.01).Conclusion MH and WCH are the risk factors for the decreased vascular elasticity and endothelial dysfunction in elderly patients.

11.
Journal of Medical Postgraduates ; (12): 481-485, 2017.
Artículo en Chino | WPRIM | ID: wpr-512364

RESUMEN

Objective Based on the previous research that the ethanolic extract from traditional Chinese medicine fructus forsythiae (Lianqiao) can obviously inhibit cancer cells in vitro, the article aimed to investigate the anti-proliferation effects of dammar-24-ene-3β-acetate-20S-ol (DM) extracted from fructus forsythiae on gastric cancer cells and its mechanism.Methods MTT assay was used to assess the anti-proliferation effects of DM on gastric cancer cells including SGC-7901, BGC-823, and MKN-45 in vitro.There were MKN-45 control group and its low dose and high dose groups, BGC-823 control group and its low dose and high dose groups, SGC-7901 control group and its low dose and high dose groups in the experiment.Flow cytometry was used to analyze the cell apoptosis rate.Cellquest software was used to analyze the results and record the ratio of cells at different cycles.DCFH-DA probe was applied to detect the ROS levels of blank control group, docetaxol group and DM group.The reaction system of microtubule assembly test was set with 10?mol/L docetaxol, 50 or 100 μmol/L DM final density and no medicine in blank control group.The readings of UV spectrophotometer were recorded.Microtubule assembly assay and microtubule immunofluorescence staining were applied to investigate the effects of DM on microtubule system.Results The inhibition ratio of 50 μg/L DM on the proliferation three gastric cell lines were all above 80%, with IC50s of MKN-45 11.72±1.35 μg/mL, BGC-823 17.19±0.82 μg/mL, SGC-7901 7.55±0.79 μg/mL.8 days′ low density culturing at 48 hours after 2 μg/mL DM treatment, compared with control group, the number of cell clones significantly reduced without much change in clone size, while 48 hours after 10 μg/mL DM treatment, besides a few clones of BGC-823, there were just several megascopic clones of SGC-7901 and MKN-45.In comparison with apoptotic cell ratio in MKN-45 control group[(21.1±2.5)%], its low dose group and high dose group resulted in significant rise of apoptotic cell ratio[(25.1±1.3)% and (55.2±2.3)%] (P0.05).In comparison with MKN-45 control group, the ratio of cells at S phase decreased in its low dose group[(14.5±2.7)% vs (12.3±3.3)%,P>0.05].In comparison with BGC-823 control group, the ratio of cells at S phase increased in its low dose group[(12.2±5.4)% vs (20.2±2.1)%,P<0.05].In comparison with SGC-7901 control group, the ratio of cells at S phase increased in its low dose group[(21.5±3.8)% vs (31.3±2.6)%,P<0.05].From the detection of intracellular active oxygen after DM treatment, dose-dependent ROS level increased in all three cell lines 48 hours after 10μg/mL and 50μg/mL DM treatment.From the results of microtubule immunofluorescence staining, 48 hours after the treatment of IC50 docetaxol and 10μg/mL DM, the fluorescence signals were in local concentration and disorder.Conclusion Dammar-24-ene-3β-acetate-20S-ol demonstrated anti-proliferation effects due to the apoptosis induced by cell cycle arrest at S phase.

12.
Chinese Journal of Blood Transfusion ; (12): 706-708, 2017.
Artículo en Chino | WPRIM | ID: wpr-607461

RESUMEN

Objective To retrospectively analyze the platelet count and related factors in bleeding patients with hematonosis,and to calculate the risk of bleeding when the platelet count is at each exposure level.Methods Retrospective analysis of patients from Department of Hematology Inpatients in Nanjing Drum Tower Hospital,Nanjing First Hospital and Nanjing Jiangning Hospital from July 2013 to June 2017 was collected.And the risk of bleeding for different hematonosis was calculated.Results The tolerance of the 5 categories of hematonosis to low platelet counts is compared:AA and ITP can tolerate lower levels of platelet count;MDS and AML(except M3) are more prone to bleeding;ALL is the most susceptible to bleeding.Conclusion When platelet resources are scarce,priority should be given to ALL,MDS and AML patients,in order to ensure the safety of critically ill patients.For patients with AA and ITP,the platelet infusion threshold may be reduced appropriately,in oder to reduce the incidence of platelet transfusion refractoriness.

13.
Chinese Journal of Behavioral Medicine and Brain Science ; (12): 1015-1020, 2017.
Artículo en Chino | WPRIM | ID: wpr-664933

RESUMEN

Objective To investigate the changes of verbal fluency test(VFT) in patients with castration resistant prostate cancer(CRPC) after chemotherapy.Methods 61 patients with CRPC were recruited.Thirty-one of those patients voluntarily accepted chemotherapy as CT group.The other thirty patients who did not received chemotherapy served as control group.CT group underwent VFT assessments at 3 time points:pre-chemotherapy (T1),during-chemotherapy (T2) and post-chemotherapy (T3).Patients in the control group were also assessed at the same time.Results (1) In phonetic fluency tasks,the interaction of time and group (time×group) between the CT group and control group was insignificant in the aspects of word capacity,cluster size,mean cluster size and phonetic switches(P>0.05).The effect of time between the CT group and control group was significant difference in word capacity,cluster size,mean cluster size and phonetic switches(P<0.05),but the effect of group was not significant(P>0.05).CT group and control group both produced more words at T2 and T3 compared with that at T1 (P<0.05).CT group had a lower score in cluster size and average cluster size than that of the control group at T3 ((6.17 ± 2.71) vs (7.64 ± 2.36),(3.14±0.78)vs (4.28± 1.53),P<0.05).(2)In semantic fluency tasks,the interaction of time and group (time×group) between the CT group and control group was insignificant in the aspects of word capacity,cluster size,mean cluster size and semantic switches(P>0.05).The effect of time between the CT group and control group was significantly different in word capacity,cluster size and semantic switches(P<0.05),but the effects of groups and the effect of time in mean cluster were not significantly different(P>0.05).The control group produced more words at T2 and T3 than T1 (P<0.05).The CT group had a smaller cluster size at T3 than T1 and T2,and it was aslo smaller than control Group(P<0.05).CT group had smaller cluster size at T3 than T2 ((5.47± 1.28) vs (7.15± 1.49),P< 0.05).At T3,the semantic switches of the CT group were more than T1,but less than control Group((20.81 ±3.63) vs (19.36±4.84) vs (21.54±6.18),P< 0.05)).The semantic switches of CT group were less at T2 than T1 ((18.25±4.25) vs (19.36±4.84),(P<0.05)).Conclusion Standard dose chemotherapy has no significant impairment on the verbal fluency of patients with CRPC.Chemotherapy does not induce the impairment of patients' phonetic fluency,but may have a negative influence on semantic fluency.

14.
Chinese Journal of Endocrinology and Metabolism ; (12): 674-676, 2016.
Artículo en Chino | WPRIM | ID: wpr-498607

RESUMEN

[Summary] To evaluate the relationships between plasma GPC4 levels and HbA1C . Plasma GPC4 levels were measured in subjects with different glucose tolerances. The relationship between plasma GPC4 levels and HbA1C were studied. Increasing levels of GPC4 showed a significant linear trend and were independently associated with HbA1C . GPC4 levels gradually declined after gradually increased , which is similar with Fins, 2hIns, and AUCinsulin . GPC4 may be involved in the regulation of blood glucose and GPC4 may be regulated by insulin.

15.
Chinese Journal of Endocrine Surgery ; (6): 185-188, 2014.
Artículo en Chino | WPRIM | ID: wpr-622067

RESUMEN

Objective To investigate the change expression levels of secreted frizzled related protein 5 (SFRP5) mRNA and protein in human adipose,and muscle tissues and the relationship between SFRP5 and insulin resistance in different glucose tolerance subjects.Methods Twelve type 2 diabetes mellitus(T2DM) patients and 12 aged and sex-matched healthy control subjects were enrolled.T2DM patients were diagnosed by1999 WHO criterion.Under the same conditions,the omental adipose and muscle tissues from these patients undergoing elective abdominal surgery were obtained.Expressions of sfrp5 protein and mRNA in adipose and muscle tissues were determined by semi—quantitive RT-PCR and Western blot while body height,weight,waist circumference,hipcircumference,blood pressure,lipodemia,fasting plasma glucose,fasting insulin,glycosylated hemoglobin,fasting serum insulin(FINS),HOMA-β,HOMA-insulin resistance index(HOMA-IR) etc were investigated.Results 1.SBP,TG,FPG,2 h PG,Fins,HOMA-IR,HbA1C were significantly higher in T2DM groups than in the control group.2.The expressions of SFRP5 mRNA and protein in omental adipose tissues were significantly higher inT2DM group than in the control group(P < 0.01).3.The level of SFRP5 mRNA and protein expressions were higher in omental adipose tissue than in the muscle tissues.Conclusions The fact that mRNA and protein expression level of SFRP5 was higher in adipose tissue than in muscle indicates adipose tissue may be the main source of SFRP5.The expressions of SFRP5 mRNA and protein were higher inT2DM group than in the control group indicates sfrp5 may play a role in insulin resistance.

16.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1862-1865, 2014.
Artículo en Chino | WPRIM | ID: wpr-466664

RESUMEN

Objective To investigate the factors associated with seizure relapse after antiepilepsy drug (AED) withdrawal in childhood epilepsy.Methods A retrospective analysis was conducted in epileptic children of Hunan Children's Hospital from Jan.2003 to Jan.2011.Among those with anti-epileptic therapy for seizure-free period over 2 years,the patients who relapsed after withdrawal were followed up through outpatient clinic visits and/or by telephone interviews for at least 2 years.Results Of the 127 cases of children enrolled in this study,28 patients(22.05%) relapsed [male:12/59 cases (20.34%) and female:16/68 cases (23.53%)].Cumulative relapse rates were 18.18% (8/44 cases) in infancy,15.79% (6/38 cases) in toddlers,23.53% (8/34 cases) in preschool children,and 54.55% (6/11 cases)in school age group.Of the patients who relapsed,generalized seizure occurred in 12/87 cases (13.79%),partial seizure in 16/40 cases(40.00%).According to seizure frequency between the first seizure and AED administration,3 cases(6.25%) relapsed among 48 cases of seizure frequency < 5 times,13 cases(24.07%) relapsed among 54 cases of seizure frequency 5 to 10 times,and 12 cases(48.00%) relapsed among 25 cases of seizure frequency more than 10 times.Relapse occurred in 9 cases of monotherapy(9/91 cases,9.89%) and in 19 cases of polytherapy (19/36 cases,52.78%).According to the seizure control period (period between the beginning of antiepileptic treatment and AED withdrawal),14 cases relapsed among 37 cases with the seizure control period of 2 to 3 years (37.84%),8 cases relapsed among 51 cases with the period of 3 to 4 years (15.69%),and 6 cases relapsed among 39 cases with the period of 4 to 5 years(15.38%).According to AED tapering off period,10 cases relapsed among 24 cases with the period of 3 months (41.67%),9 cases relapsed among 36 cases with the period of 3-6 mc ths (25.00%),and 9 cases relapsed among 67 cases with the period of over 6 months(13.43%).Factors associated with an increased risk of relapse were age of epilepsy onset,seizure type,route of administration,timing of antiepileptic trug withdrawal,tapering speed,which were had statistical significance (x =8.051,6.780,16.896,27.607,7.576,8.451,all P <0.05).Gender difference was not associated with the risk of relapse(x2 =0.187,P > 0.05).Conclusions Factors associated with an increased risk of relapse are age of epilepsy onset,seizure type,route of administration,timing of antiepileptic drug withdrawal,tapering speed.Standard therapies of early treatment,adherence to medication for at least 3 years,taper period for more than 6 months are associated with a decreased probability for relapse.

17.
International Journal of Pediatrics ; (6): 176-180, 2014.
Artículo en Chino | WPRIM | ID: wpr-444606

RESUMEN

Objective To detect the disparity of three biological molecules Caveolin-1,IL-1β,VEGF in cerebrospinal fluid of children with viral encephalitis at the different stages; to explore the role of Caveolin-1,IL-1β,VEGF in the pathogenesis of viral encephalitis;and to evaluate their clinical significance in assessing the severity and prognosis of viral encephalitis.Methods We recruited 65 inpatients children with viral encephalitis in the Second Neurology Department of Hunan Children's Hospital from July 2011 to July 2012.Subjects were divided into 2 groups:54 cases of acute phase and 11 cases of recovery phase.According to the clinical manifestations,they were re-divided into 40 patients with mild viral encephalitis and 25 cases of severe viral encephalitis.Twenty healthy age matched controls (10 cases of epilepsy and 10 cases of congenital abnormality) were also taken for the study.Cerebrospinal fluid exam,EEG,head MRI and other tests were performed in all patients.Caveolin-1,IL-1β and VEGF levels in cerebrospinal fluid of 65 children with viral encephalitis and 20 age-matched controls were measured using ELISA.Results Cerebrospinal fluid Caveolin-1,IL-1β,VEGF levels in the acute phase of viral encephalitis were (49.209 ± 22.320) pg/ml,(16.923 ± 6.823) ng/ml,(44.342 ± 19.264) ng/ml respectively,and (33.253 ± 20.349)pg/ml,(11.724 ± 3.009)ng/ml,(30.312 ± 18.147) ng/ml in recovery phase,which were significantly higher than those of controls (P <0.01).The difference was statistically significant between acute phase and recovery phase (P < 0.05).Acute viral encephalitis patients had higher Caveolin-l,IL-1β,VEGF levels than the epilepsy group,and the difference was statistically significant (P < 0.05).In viral encephalitis group,children with cerebrospinal fluid protein content (0.5 ~ 1.0 g / L) had higher of Caveolin-1,IL-1β and VEGF levels as compared with those with cerebrospinal fluid protein content ≤ 0.5 g/L,and the difference was statistically significant (P < 0.01).Cerebrospinal fluid Caveolin-1,IL-1 β and VEGF showed no significant difference among children with different severity of encephalitis,different levels of frequent seizures,different degrees EEG changes (P > 0.05).But in the patients with severe head MRI changes,cerebrospinal fluid Caveolin-1,IL-1β,VEGF levels increased significantly (P < 0.05).Conclusions Caveolin-1,IL-1β and VEGF may participate in the pathogenesis of viral encephalitis.Detection of these parameters may be helpful to the evaluation of the severity and prognosis of viral encephalitis.

18.
Chinese Journal of Infectious Diseases ; (12): 116-119, 2014.
Artículo en Chino | WPRIM | ID: wpr-443161

RESUMEN

Objective To describe the clinical characteristics,CD4+ and CD8+ T cell counts as well as human immunodeficiency virus (HIV) RNA of acute HIV infection in men who have sex with men,and their correlations with the disease progression.Methods One hundred cases of acute HIV infection were followed up.Nuclear acid sequence-based amplification (NASBA) was used for plasma HIV RNA screening.Flow cytometry was served to test the CD4+ and CD8+ T cell counts.Hepatitis B surface antigen (HBsAg) and anti-hepatits C virus (HCV) antibody were detected using enzyme-linked immunosorbent assay.Rapid plasma reagin was applied to screen for Treponema pallidum antibody.Antibody positive specimens were tested with Treponema pallidum particle assay for validation.The positive results were identified as infection.Results Ninety-six cases were aged between 20 and 50 years old.Among 100 cases,9 were HBsAg-positive; 4 were anti-HCV positive; 40 were co-infected with syphilis.During the follow-up period,the median CD4+ T cell counts in the 1st and 3rd month were 510/μL and 499/μL,respectively.The median HIV RNA in 1st,3rd,6th and 24th month were 4.37,4.00,4.31 and 4.43 lg copy/mL,respectively.CD8+ T cell counts did not show significant change during the study.Among 38 rapid progressors,the initial mean CD4+ T cell counts was (358.0± 134.6)/μL,which was significantly lower than that of the non-rapid progressors with a mean CD4+ T cell counts of (559.2±203.4)/μL.Meanwhile,the initial mean HIV RNA of the rapid progressors was 4.71 lg copy/ mL,while that of the non rapid progressor was 4.18 lg copy/mL.The initial CD8+ T cell counts of the rapid progressors and non rapid progressors were 1 250.1/μL and 1 247.2/μL,respectively.Conclusions Acute HIV-1 infected men who have sex with men tend to be young.The initial CD4+ T cell counts and HIV RNA during acute infection could be used to predict the disease progress.

19.
Chinese Journal of Infectious Diseases ; (12): 173-178, 2013.
Artículo en Chino | WPRIM | ID: wpr-436079

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Objective To analyze the influence of the polymorphisms of human leucocyte antigen (HLA)-Ⅰ molecule and the effects on plasma viral load of human immunodeficiency virus (HIV) infected male homosexual population in Beijing.Methods The HLA-A,HLA-B,HLA-C allele were typed by sequence specific primer-polymerase chain reaction (SSP-PCR),and viral load was detected in 157 chronic HIV infected persons.Normally distributed measurement data were analyzed by one-way or multi-way analysis of variance,while data of abnormal distributions were analyzed by Mann-Whitney U test.Results Among 157 chronic HIV infected persons,the number of Bw4 motifs on HLA-B loci was associated with a lower level of viral load (F=3.01,P=0.045).In these HIV infected persons,the viral load in HLA-B carrying Bw4/4 homozygote was (4.19±0.76) lg IU/mL,in HLA-B carrying Bw6/6 homozygote was (4.63±0.74) lg IU/mL (t=2.27,P=0.010).The viral load of those who carried three,one or none Bw4 motifs on HLA-A and HLA-B loci were (3.92± 0.97),(4.54±0.88) and (4.60±0.72) lg IU/mL,respectively (three vs none:t=2.53,P=0.015; three vs one:t=2.11,P=0.039).HIV infected persons who carried homozygote on any loci of HLA-A,HLA-B,HLA-C had comparable levels of plasma viral load to those who carried heterozygote on HLA-A,HLA-B,HLA-C loci.Among the persons who carried heterozygote on HLA-A,HLA B,HLA-C loci,Bw4/4 homozygote on HLA-B had lower levels of viral load than Bw6/6 homozygote on HLA-B (median:4.09 lg IU/mL vs 4.55 lg IU/mL,U=210.50,P=0.041).HIV infected persons who carried A30/B13/C06 or A33/B58/C03 haplotype had comparable levels of plasma viral load to those without A30/B13/C06 or A33/B58/C03 haplotype (t=0.40,P=0.69; t=0.68,P=0.49,respectively).Conclusions Bw4/4 homozygote on HLA-B loci is associated with lower HIV viral load.Furthermore,the plasma viral load of HIV infected persons carrying heterozygote on HLA-A,HLA-B,HLA-C loci could be influenced by the Bw4/4 homozygote on HLA-B locus,with a lower viral load.

20.
Tumor ; (12): 226-231, 2010.
Artículo en Chino | WPRIM | ID: wpr-433309

RESUMEN

Objective:The aim of this study was to investigate the association of mRNA expressions of ERCC1 (excision repair cross-complementing group 1) and BRCA1 (breast cancer 1) with chemosensitivity to cisplatin in malignant pleural and peritoneal effusions.Methods:Malignant pleural and peritoneal effusions were collected from 46 patients diagnosed with stage Ⅳ malignant tumor, prospectively. The tumor cells were isolated and the sensitivity of tumor cells to cisplatin was detected by adenosine triphosphate-bioluminescence assay (ATP-TCA). Real-time quantitative PCR was used to determine the mRNA expressions of ERCC1 and BRCA1. Results:The expression level of ERCC1 mRNA was negatively correlated with sensitivity of non-small cell lung cancer (NSCLC) to cisplatin (P= 0.001, r=0.685). BRCA1 mRNA expression level had negative correlation with sensitivity to cisplatin in both NSCLC (P=0.014, r=0.541) and gastric cancer (P=0.002, r=0.625). A significant interaction was found between the effects of ERCC1 and BRCA1 mRNA expressions on sensitivity to cisplatin (P=0.010 for all patients;P=0.027 for gastric cancer patients).Conclusion:ERCC1 and BRCA1 mRNA expression levels correlated with ex vivo chemosensitivity of tumor cells to cisplatin in malignant pleural and peritoneal effusions. Detection of both ERCC1 and BRCA1 may have a higher reliability in predicting the sensitivity of tumor cells to cisplatin than detection of single ERCC1 or BRCA1 expression.

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