Objective To explore the application value of chromosomal microarray analysis(CMA)technolo-gy in children with abnormal development at the endocrine clinic,and to summarize the data of diagnosis and treatment. Methods A retrospective analysis of 15 children with abnormal development was performed at the endocrinology clinic of Guangzhou Women and Childrenˊs Medical Center from January 2015 to December 2017. The whole genome CMA was applied according to the standard operation procedure of CytoScan 750 arrays of Affymetrix,USA. The results were analyzed by chromosome analysis suite( CHAS)software and related bioinformatics methods. Results The report on CMA showed that the genomes of 15 children had the pathogenic copy number variation(CNVs)or variants of uncer-tain significance. The chromosomal abnormalities were consistent with the clinical manifestations of all children. There were deletions in 14 cases and duplications in 3 cases. Among the 15 cases,loss of heterozygosity was found in 2 cases, uniparental disomy in 1 case,trisomy in 2 cases,Turner syndrome in 2 cases,Smith-Magenis syndrome in 1 case,and wolf Hirschhorn syndrome in 1 case. Only 2 of 15 children were diagnosed as chromosomal abnormalities by routine kar-yotype analysis. Conclusions The whole genome high resolution CMA can significantly improve the rate of diagnosis in children with abnormal development at endocrinology clinic,and is worthy of recommendation.

Objectives To explore the clinical and gene mutation characteristics of Gitelman syndrome in children. Method The clinical data of 3 children with Gitelman syndrome were retrospectively analyzed. Results All three cases were male and their age were 3, 8 and 10 years . The clinical manifestations were hypokalemia, hypomagnesemia, alkalosis, hyperreninemia,and hyperaldosteronemia.Gene detection revealed a complex heterozygous mutation in the SLC12A3 gene.A total of 5 mutation sites were found in the SLC12A3 gene,c.179C>T(Thr60Met),c.248 G>A(Arg83Gln),c.2129 C>A(Ser710X), c.2660+1G>A, c.1456G>A (Asp486Asn). After the diagnosis was confirmed, they were treated with potassium supplement, magnesium supplement, and spironolactone and the conditions were improved in all cases. Conclusions In children with hypokalemia, be aware of Gitelman syndrome, and gene detection is helpful for the diagnosis.

Objective To investigate the correlation of previous hepatitis B virus (HBV) infection with the incidence risk of chronic pancreatitis (CP).Methods This was a case control study.Five hundred and seventy-one patients with CP admitted in the Department of Gastroenterology, Changhai Hospital, Second Military Medical University between January 2015 and October 2016 were enrolled, and 1216 sex and age matched health individuals were also enrolled as the control group.The 5 serum HBV markers(HBsAg,HBsAb, HBeAg, HBeAb and HBcAb) were detected and their correlation with CP incidence was analyzed.Results The positive rate of HBsAg in the CP group and the control group were 3.0% and 3.8%, respectively, and the difference was statistical significant.(OR=0.039, 95% CI 0.02~0.80, P<0.00), but in all the HBsAg positive models (HBVM) the difference of CP and control groups was not statistical significant.HBsAb positive rate in CP group and the control group were 51.8% and 75.0%, respectively, and the difference was statistical significant(P<0.000).HBeAg positive rate in CP group and the control group were 1.1% and 0.1%, the difference was statistical significant (P<0.05), but in all the HBeAg positive models, the CP group and the control group had no statistical difference (P>0.05).The positive rate of HBeAb in the CP group and the control group were 24.3% and 10.8%, respectively, and the difference was statistical significant(P<0.00).The positive rate of HBcAb in the CP group and the control group were 50.1% and 16.5%, respectively,and the difference was statistical significant(P<0.000).In the(HBsAb+, HBeAb+, HBcAb+), (HBsAb+, HBcAb+), (HBeAb+, HBcAb+), (HBcAb+) models, the positive rate in CP group was significantly higher than that of the control group(P<0.000).Multivariate regression analysis showed that the positivity of HBsAb and HBeAb were the protection factors for the occurrence of CP(P<0.05),and HBcAb positivity was the independent risk factor for CP (OR=6.931,P<0.000).Conclusions HBsAb and HBeAb poitivity were the protectors for CP, while HBcAb positivity could be considered as an independent risk factor for CP.

Objective To investigate the effect of pulmonary surfactant on neonatal with acute respiratory distress syndrome.Methods98 cases with neonatal respiratory distress syndrome inthe fourth hospital of Ningbo were randomly divided into experimental group and control group, 49 cases in each group.All patients were given warm, anti infection, and maintain the internal environment stability, prevention of bleeding and other conventional treatment.The control group were treated with mechanical CPAP, the experimental group were given pulmonary surfactant 70mg/kg, concentration is 35mg/mL.Pulmonary surfactant was injected slowly by tracheal intubation at supine, lateral(left, right) and semi recumbent position.The drug was distributed evenly in the lung of the patients who were given the drug 1-2 times.Respiratory frequency (RR), pH, oxygen partial pressure (PaO2), partial pressure of carbon dioxide (PaCO2) levels and the incidence of complications, clinical effective rate of the tthe two groups were observed and compared.ResultsCompared with pre-treatment, RR and PaCO2 levels were decreased, pH and PaO2 levels were increased after treatment in the two groups, the differences were statistically significant (P<0.05);compared with the control group, RR, PaCO2 level were lower, pH and PaO2 levels were higher in the experimental group, the differences has statistical significance (P<0.05);compared with the control group, the experimental groupwith a low incidence of complications, clinical effective rate is higher, the difference was statistically significant (P<0.05).ConclusionPulmonary surfactant can reduce the respiratory frequency in neonatal with acute respiratory distress syndrome, improve arterial blood gas levels, which get better clinical curative effect.

Objective To establish HIV-1 seroconversion panels with the samples collected by National Institutes for Food and Drug Control ( NIFDC) and to evaluate the window periods of HIV enzyme immunoassay ( EIA) diagnostic kits used for blood screening with them. Methods Serum specimens were collected from different plasma donation stations in China. All suspected HIV infection specimens were screened for HIV by using the nucleic acid amplification testing (NAT), Western blot confirmatory assay and P24 quantitative detection assay. The HIV env gene sequences were amplified by RT-PCR for further confirmation of HIV infection. The PCR products were sequenced and genotyped. The confirmed seroconver-sion panels were used to evaluate the early detection capabilities of the 4th and 3rd generation HIV EIA diag-nostic kits used in blood screening in china. Results A total of 8 sets of HIV seroconversion panels com-prised of 36 samples were confirmed in this study, including 6 sets of AE subtype, 1 set of B subtype and 1 set of unknown genotype. Those seroconversion panels were tested with HIV diagnostic kits produced by 19 different manufacturers. For the early detection of HIV infection, the 4th generation HIV diagnostic kits with a score of 9. 4 points were better than the 3rd generation HIV diagnostic kits whose score was 3. 6 points (P<0. 01, t=8. 547). Some of the domestic 4th generation HIV diagnostic kits were similar to the imported kits in the early detection of HIV infection. In terms of the diagnosis of HIV infection, the HIV-1 NAT was at least 2 weeks earlier than the HIV EIA diagnostic kits. The sensitivity of confirmatory assay was lower than that of the diagnostic kits. Four out of five 4th generation HIV diagnostic kits showed declined signal to cut off ( S/CO ) ratio , indicating the probability of false detection during the second window period . Conclusion Eight sets of NIFDC HIV-1 seroconversion panels were established in this study. With those panels we found that there were differences in the window period between different EIA diagnostic kits used for HIV blood screening.

Objective To investigate the constituents and analgesic and anti‐inflammatory effects of leaves essential oil in Schef fleraoctophylla .Methods SOLEO was dilated by water vapor .The mouse acetic acid‐induced twisting test and mouse auricle swelling test induced by xylene were employed to evaluate the anti‐ inflammation and analgesia effects of SOLEO . Results 55 constituents of SOLEO were identified by GC‐MS .The major constituents ,4‐terpenol ,(‐)‐spthulenol ,caryo‐phllene oxide andβ‐linalool with total percent of 51 .86% were found .The twisting number and relieve swollen auricle of mice induced by xylene were significantly reduced by SOLEO .Conclusion SOLEO was the major active components of anti‐inflam‐mation and analgesia .

Hemangioblastoma ; pathology ; Humans ; Kidney ; pathology ; Kidney Neoplasms ; pathology

OBJECTIVETo study the clinicopathologic characteristics, immunophenotypes, pathologic diagnosis and differential diagnosis of gastrointestinal inflammatory fibroid polyp (IFP).

METHODSThe clinical data, histologic features and immunohistochemical results of 6 cases of gastrointestinal inflammatory fibroid polyp were analyzed, with review of literature.

RESULTSThere were altogether 5 women and a man. The age of patients ranged from 44 to 87 years (median age = 61 years and mean age = 62 years). The sites of involvement included stomach (number = 2), jejunum (number = 2), distal ileum (number = 1) and rectum (number = 1). The patients often presented with abdominal pain or discomfort and tarry stool. All the cases studied showed similar morphology, were submucosa-based and composed of bland spindle cells associated with loose collagenous stroma and perivascular edema. Prominent concentric fibroblastic proliferation ("onion-skin" appearance) and eosinophilic infiltrate were characteristics. Three of the patients underwent surgical resection. The remaining patients had the lesions removed with endoscopy. Follow-up data were available in 5 patients and none of them had disease recurrence or metastasis.

CONCLUSIONSIFP is a rare benign tumor of gastrointestinal tract. Correct diagnosis primarily relies on pathologic examination. It needs to be distinguished from gastrointestinal stromal tumors or inflammatory myofibroblastic tumor.

Adult ; Aged ; Aged, 80 and over ; Diagnosis, Differential ; Female ; Gastrointestinal Tract ; pathology ; Humans ; Immunohistochemistry ; Inflammation ; pathology ; Male ; Middle Aged ; Polyps ; pathology

The protection model of intellectual property rights for traditional village culture were studied by investi-gating its current situation , related problems and why they exist in Yongzhou City , Hunan Province , China .