10,11-Dehydrocurvularin attenuates inflammation by suppressing NLRP3 inflammasome activation / 中国天然药物

10,11-Dehydrocurvularin (DCV) is a natural-product macrolide that has been shown to exert anti-inflammatory activity. However, the underlying mechanism of its anti-inflammatory activity remains poorly understood. Aberrant activation of the NLRP3 inflammasome is involved in diverse inflammation-related diseases, which should be controlled. The results showed that DCV specifically inhibited the activation of the NLRP3 inflammasome in association with reduced IL-1β secretion and caspase-1 activation, without effect on the NLRC4 and AIM2 inflammasomes. Furthermore, DCV disturbed the interaction between NEK7 and NLRP3, resulting in the inhibition of NLRP3 inflammasome activation. The C=C double bond of DCV was required for the NLRP3 inflammasome inhibition induced by DCV. Importantly, DCV ameliorated inflammation in vivo through inhibiting the NLRP3 inflammasome. Taken together, our study reveals a novel mechanism by which DCV suppresses inflammation, which indicates the potential role of DCV in NLRP3 inflammasome-driven inflammatory disorders.

Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome / 中华医学遗传学杂志

Objective@#To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS).@*Methods@#Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Genomic DNA was subjected to whole exome next generation sequencing. Suspected variants were confirmed by Sanger sequencing.@*Results@#The two patients were characterized by typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation. Two variants of the CREBBP gene, namely c. 3779+ 1G>A and c. 5052_c.5053insT, were respectively identified in the 2 patients. Among these, c. 3779+ 1G>A was a previously known pathological mutation, while c. 5052_c.5053insT was unreported previously. Both variants were predicted to be pathological.@*Conclusion@#Two cases of Rubinstein-Taybi syndrome were diagnosed, which facilitated the diagnosis and genetic counselling.

Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome / 中华医学遗传学杂志

OBJECTIVE@#To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS).@*METHODS@#Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Genomic DNA was subjected to whole exome next generation sequencing. Suspected variants were confirmed by Sanger sequencing.@*RESULTS@#The two patients were characterized by typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation. Two variants of the CREBBP gene, namely c.3779+1G>A and c.5052_c.5053insT, were respectively identified in the 2 patients. Among these, c.3779+1G>A was a previously known pathological mutation, while c.5052_c.5053insT was unreported previously. Both variants were predicted to be pathological.@*CONCLUSION@#Two cases of Rubinstein-Taybi syndrome were diagnosed, which facilitated the diagnosis and genetic counselling.

Process in menstrual blood-derived mesenchymal stem cells for treatment of central nervous system diseases / 生物工程学报

Stem cell research has become a frontier in the field of life sciences, and provides an ideal model for exploring developmental biology problems such as embryogenesis, histiocytosis, and gene expression regulation, as well as opens up new doors for clinical tissue defective and inheritance diseases. Among them, menstrual blood-derived stem cells (MenSCs) are characterized by wide source, multi-directional differentiation potential, low immune rejection characteristics. Thus, MenSCs can achieve individual treatment and have the most advantage of the clinical application. The central nervous system, including brain and spinal cord, is susceptible to injury. And lethality and morbidity of them tops the list of all types of trauma. Compared to peripheral nervous system, recovery of central nervous system after damage remains extremely hard. However, the treatment of stem cells, especially MenSCs, is expected to solve this problem. Therefore, biological characteristics of MenSCs and their treatment in the respect of central nervous system diseases have been reviewed at home and abroad in recent years, so as to provide reference for the treatment of central nervous system diseases.

Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the clinical features and potential mutations of the SLC25A13 gene in a boy affected with neonatal intrahepatic cholestasis.</p><p><b>METHODS</b>Clinical data and peripheral venous blood sample of the child, and peripheral venous blood samples of both parents, were collected. All coding exons of the SLC25A13 gene were amplified with PCR and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>The boy was found to be a compound heterozygote carrying c.851_854delGTAT and IVS16ins3kb mutations of the SLC25A13 gene, which were respectively inherited from his mother and father.</p><p><b>CONCLUSION</b>Based on its clinical and genetic features, the patient was diagnosed with neonatal intrahepatic cholestasis caused by citrin deficiency.</p>

Survey on quality of life in children and adolescents with type 1 diabetes / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To survey the quality of life in children and adolescents with type 1 diabetes.</p><p><b>METHODS</b>Ninety-eight children and adolescents with type 1 diabetes who participated in Diabetes Summer Camp held in Chongqing, Wuhan and Cheng during 2012 April and December were recruited in the study. The American juvenile diabetes patients quality of life scale Diabetes Quality of Life for Youths was used to assess the quality of life and SPSS19.0 was used for statistical analysis.</p><p><b>RESULTS</b>The scale had satisfactory reliability and validity with a Cronbach's Alpha score of 0.942 and a validity score of 0.679. All three dimension of scales: scales of impact, scales of worries and scales of satisfaction were significantly correlated with self-health assessment (P<0.01). The scores of impact and worries accounted for >50% of total scores as the same for the self health assessment scores. The score of disease course, diet and blood glucose control were positive correlated with each other. Age and HbA1c were positively correlated with the scale of impact, while gender has negative correlation with satisfaction scale (P<0.05). The diabetes diet had significant effects on the quality of life.</p><p><b>CONCLUSION</b>The quality of life in children and adolescents with type 1 diabetes is decreased, especially for those with longer disease course and female adolescents. The form of Diabetes Quality of Life for Youth used in the study has good reliability and validity, which can reflect the quality of life of Chinese diabetic children and adolescents.</p>

Clinical features and treatment of type 1 diabetes mellitus in children / 中华全科医师杂志

Objective To review the clinical characteristics and treatment of type 1 diabetes mellitus (T1DM) in children. Methods The clinical data of 103 children with T1DM admitted to our hospital from Februry 2002 to August 2010 were retrospectively analyzed. Thirty one cases with diabetic ketoacidosis (KDA) were treated with continuous insulin pump (group A) or basal-bolus insulin therapy (group B). The differences in blood glucose control time, the rate of hypoglycemic episodes, glucose fluctuation, fasting blood glucose (FBG), 2 h postprandial blood glucose (2 hPBG), insulin dosage, the time of urine acetone bodies disappear and length of stay were compared in two groups. Results The age of 103 children with T1DM was from 38 d to 15. 33 y with an average of (8 ±3) y; most of them was 7 - 10 y (47, 45.6% ). Seventy eight children were first diagnosed accounting for 75.7%; boys accounted for 55.3% of total. Fifty one cases (49.5%) were diagnosed in winter and spring and 67 (65.2%) had infections, most of them were respiratory tract and gastrointestinal infections. Sixty two cases (60. 2% )presented as diabetic ketoacidosis at the first onset, including 4 cases (3.9%) with cerebral edema. Some patients were complicated by Hashimoto's thyroiditis, hyperthyroidism, SLE and other autoimmune diseases.Among 31 cases with ketoacidosis the FBG and PBG were decreased significantly after treatment, there were no significant differences between two groups (P ＞ 0. 05 ). Compared to group B the correction time of DKA and urine acetone bodies was shorter, and reached the targeted glucose levels more quickly, the frequency of blood fluctuation and the hypoglycemia was significantly lower, the length of stay was shorter, and the daily dose of insulin was lower in group A; the differences between two groups were statistically significant ( P ＜0. 05 or P ＜0. 01 ). Conclusions The clinical symptoms at first onset of T1 DM in children are not typical,and likely to be combined with DKA; infection may be one of the inducing factors for DKA. Continuous subcutaneous insulin infusion with pump can control the blood glucose more effectively and equably, and are convenient for use by children; so it is a better treatment option for type 1 diabetes mellitus in children.

Thoughts of Clinic Practice Teaching for Pediatrics Undergraduates on Basic Hospital / 中华医学教育探索杂志

To explain how to ensure and improve the quality of the clinical practice teaching for the clinical institutes,we expatiate on the practical experience in the hospital from enhancing the practice teaching management,improving the teaching consciousness,meliorating the teaching environment and reforming the method.

The association between HLA-DQA1 gene polymorphism and Graves' disease of children / 重庆医科大学学报

Objective:To seek for susceptible and protective gene of GD by analyzing the allele frequency distribution of HLA-DQA1 loci and to evaluate the association of HLA-DQA1 gene polymorphism with GD pathogenesis in Chongqing children of Han race.Methods:Eighty-five children with GD [including 21 boys and 64 girls,mean age (8.84?2.51)] and 50 racially matched healthy controls were recruited for the study.Both groups were of Han race.Genomic DNA was extracted from venous blood samples.Genotypes of HLA-DQA1 were detected by polymerase chain reactions with single strand conformation polymorphism (PCR-SSCP).The results were identified by DNA sequence typing.Frequencies of HLA-DQA1 alleles at eath locus were compared between patients and controls using the ? 2 -test.Results:7 kinds of HLA-DQA1 conformations were found in 85 GD and 50 healthy controls, respectively marked with a b c d e f g.Compared with control group,the frequencies of d and f conformation increased significantly [43.5% VS 8%, ? 2=18.79,P=0.001, relative risk(RR)=8.86;27% VS 8%, ? 2=6.80,P =0.009,RR=4.27],and the frequency of b conformation decreased significantly (8.2% vs 52%, ? 2=29.43,P=0.001, RR=0.08) in GD group.DNA sequence analysis showed that d conformation was HLA-DQAl*0102, f conformation was HLA-DQAl*0302/0501,b conformation was HLA-DQA1*0101/0301.Conclusion:The polymorphism of HLA-DQA1 loci in Chongqing children of Han race are different from that of Caucasian,American Black,Japanese and Hongkong Chinese. It shows that different race and area have different alleles.GD is significantly associated with HLA-DQA1*0102, HLA-DQA1*0302/0501 and HLA-DQA1*0101/0301.It suggests that the HLA-DQA1*0102 and HLA-DQA1*0302/0501 might be the genetic markers for susceptibility, HLA-DQA1*0101/0301 might be the protective genetic markers for GD in Chongqing children of Han race.