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.

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.

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.

OBJECTIVE: To investigate the efficacy and feasibility of coblation treatment of partial tonsillectomy in children with obstructive sleep apnea-hypopnea syndrome (OSAHS). METHOD: The clinical datum of 91 children with OSAHS were retrospective analysis during the period from January 2009 to November 2009. All subjects, the main obstructive lesions were hypertrophy of tonsils and adenoids ,and which without recurrent pharyngodynia and tonsillitis, were applied with coblation treatment of partial tonsillectomy and adenoid ablation. RESULT: Intraoperative blood loss was about 1-2 ml in all subjects,no primary and delayed hemorrhage happened and postoperative pain happened. All subjects were followed-up for 12 months to 22 months, symptoms of snoring and mouth breathing disappeared. No tonsil regeneration and repeated inflammatory episode was found. CONCLUSION Coblation treatment of partial tonsillectomy in children with OSAHS is micro-invasive, safe and effective, which is suitable for children of different age groups with hypertrophy of tonsils.
Catheter Ablation ; methods ; Child ; Child, Preschool ; Female ; Humans ; Male ; Retrospective Studies ; Sleep Apnea, Obstructive ; surgery ; Tonsillectomy ; methods

ObjectiveTo investigate the effect of NOTCH4 expression on vasculogenic mimicry (VM) formation in hepatocellular carcinoma (HCC). MethodsTumor tissues were collected from 85 patients diagnosed with HCC. The relationship between NOTCH4 expression and VM was examined using immunohistochemical staining and PAS/CD31 double staining. The influence of siRNA-mediated NOTCH4 silencing on VM network formation in HCC was observed in the 3D cell culture system in vitro. Experimental data were assessed with Mann-Whitney U test and one-way analysis of variance. ResultsNOTCH4 had significantly higher expression in VM-positive HCC tissues than in VM-negative HCC tissues (P=0.019). In siRNA-treated cells, NOTCH4 mRNA and protein expression was significantly down-regulated compared with those in mock-treated cells (P=0.007; P=0.003) and untreated cells (P=0.000; P=0.000). VM network formation was impaired by inhibition of NOTCH4 expression in the 3D cell culture system. ConclusionNOTCH4 plays an important role in VM formation in HCC and may provide a novel molecular target for anti-angiogenesis therapy for HCC.

OBJECTIVETo survey the quality of life in children and adolescents with type 1 diabetes.

METHODSNinety-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.

RESULTSThe 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.

CONCLUSIONThe 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.

Adolescent ; Child ; Diabetes Mellitus, Type 1 ; Female ; Humans ; Male ; Quality of Life ; Sickness Impact Profile ; Surveys and Questionnaires ; Young Adult

Objective This study was conducted to assess the accuracy of [18F] fiuorodeoxyglucose-positron emission tomography/computed tomography (18FDG PET-CT) in detection of pelvic nodal metastases in endometrial cancer.Methods Patients with endometrial cancer from January 2015 to June 2017 confirmed by the postoperative pathology were retrospectively analyzed.30 patients finished PET-CT before operation.The findings on histopathology were compared with 18FDG-PET/CT findings to calculate the sensitivity,specificity,positive predictive value (PPV),negative predictive value (NPV),and accuracy of 18FDG-PET/CT.To analyze the efficacy of maximum standardized uptake (SUVmax) and lymph node maximum standardized uptake (LN-SUVmax) of PET-CT in the diagnosis of pelvic lymph node metastasis.Resuits For detection of pelvic nodes,based on patient analysis,18FDG-PET/CT had a sensitivity of 75.0％,specificity of 88.5％,PPV of 50.0％,NPV of 95.8％ and accuracy of 86.7％.Based on a nodal region analysis,18FDG-PET/CT had a sensitivity of 83.3％,specificity of 98.3％,PPV of 55.0％,NPV of 99.6％,and accuracy of 98.3％.When maximum standardized uptake values (SUVmax) ＞ 8,area under curve (AUC) =0.64,Yonden Index =0.42.When maximum standardized uptake values of lymphonodus (LN-SUVmax) ＞ 3 (AUC =0.79,Yonden Index =0.63),the sensitivity and specificity of diagnosis of lymph node metastasis were 100％,42.31％,and 75.0％,88.5％,but without statistically significant difference.Although AUC of LN-SUVmax was higher than SUVmax of primary lesion,but the difference was not statistically significant (P ＞ 0.05).Conclusions 18 FDG-PET/CT has high specificity,NPV for detection of pelvic LN metastasis area in endometrial cancer,which can provide preoperative basis for patients with endometrial cancer to avoid lymph node resection,thereby reducing the risk of early endometrial cancer surgery and improving the quality of life after surgery.We concluded that,there were no exact cutoffs of SUVmax for the prediction of lymph node metastases,neither primary lesion,nor lymph node.There is clearly a need for multicenter,large-scale trials to find out better parameters in judging metastasis of lymphnodes.

OBJECTIVE: To investigate the therapeutic efficacy of coblation-assisting uvulopalatopharyngoplasty (CAUPPP) combining with coblation-channeling of the tongue (CCT) for patients with severe obstructive sleep apnea-hypopnea syndrome (OSAHS). METHOD: A retrospective analysis was made on patients with severe OSAHS treated by CAUPPP combining with CCT. The adult with severe OSAHS were involved in the study and the apnea-hypopnea index (AHI) were beyond 40/h and lowest arterial oxygen saturation (LSaO2) were under or equal to 80%. Surgical approach: The UPPP was performed to decrease the size of soft palate with coblation and coblation-channeling in the soft palate and decrease the size of tongue by CCT. All patients were followed up for 6 to 12 months and underwent polysomnography (PSG). RESULT: Subjective symptoms of patients improved more significantly than that of preoperation. The function of soft palate is normal without significant nasopharyngeal regurgitation. Compared with the preoperative data, AHI values were significantly decreased (P<0.01) and the lowest oxygen saturations increased significantly (P<0.01) and the effective rate was 91.7%. CONCLUSION There are usually multiple obstruction levels in patients with severe OSAHS and the traditional surgical treatment is not ideal. This study demonstrated that with the assistance of coblation, combining CAUPPP with CCT for patients with severe OSAHS is an effective surgical method. It has less blood loss, minimally invasive, retained the normal function of the soft palate, etc., should be widely applied.
Adult ; Aged ; Catheter Ablation ; Female ; Humans ; Male ; Middle Aged ; Palate ; surgery ; Palate, Soft ; surgery ; Pharynx ; surgery ; Retrospective Studies ; Sleep Apnea, Obstructive ; surgery ; Tongue ; surgery ; Uvula ; surgery

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.

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.
CREB-Binding Protein ; genetics ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Phenotype ; Rubinstein-Taybi Syndrome ; genetics