ABSTRACT
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.
ABSTRACT
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.
ABSTRACT
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, P0.05).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.
ABSTRACT
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.
ABSTRACT
In type 1 diabetes,insulin producing pancreatic β-cells are attacked and destroyed by autoreactive T cells,which causes major impairments of blood glucose metabolism and finally development of lifethreatening complications.Many immunosuppressive and immunoregulatory therapies have been and are currently being evaluated for their utility in the prevention and treatment of type 1 diabetes.Agents for intervention are generally classified according to their antigen-speeificity (antigen-specific and nonantigen-specific) and β cell growth or anti-apoptotic agents.Combination of these agents from different class would minimize toxicities and realize synergies to enhance and prolong efficacy.
ABSTRACT
To explore the protective effect of adenovirus mediated IGF-Ⅰgene(Ad-IGF-Ⅰ)transfer on non-obese diabetic(NOD)mice. The results showed that the incidence of diabetes and degree of insulitis were significantly reduced in mice receiving Ad-IGF- Ⅰ . Treatment with Ad-IGF- Ⅰ significantly decreased apoptosis rate,expression of Fas and caspase-3, and increased expression of Bcl-xl. This study indicates the potential of IGF- Ⅰ gene therapy in protecting NOD mice from insulitis and apoptosis.
ABSTRACT
We present eight cases with short stature, pituitary hyperplasia, and hypothyroidism. Pituitary hyperplasia due to primary hypothyroidism was diagnosed on the basis of clinical manifestations, endocrine examination and MRI. After 2 to 6 months of L-thyroxine replacement therapy, the signs of hypothyroidism disappeared; free triiodothyronine, free thyroxine, thyrotropin and prolactin became normal; and pituitary enlargement regressed. In two children, the growth rate remained low when treated with L-thyroxine, but with additional recombinant human growth hormone (rhGH), the height increased by 11 cm per year. No recurrence of lesions was found on follow-up.
ABSTRACT
AIM:The homologous recombination takes place in E.coli BJ5183 between shuttle vector and adenoviral backbone vector.Recombinants are selected for kanamycin resistance,and the linearized recombinant plasmid is transfected into 293 cells.In this study,AdEasy system was used to generate recombinant adenovirus vector carrying rat interleukin-10(IL-10) gene.METHODS:The experiment was conducted in Department of Microbiology,Qingdao University Medical College from August 2006 to May 2007.①The materials included five clean-grade SD rat,a shuttle vector pAdTrack-CMV,an adenoviral backbone plasmid pAdEasy-1,E.coli.BJ5183 and DH10B,and human embryo kidney 293 cells,which were given as a present by professor Luo.All animal treatment was accorded with the ethical standards.②Total RNA was extracted from spleen cells of rat stimulating by lipopolysaccharide.IL-10 cDNA was amplified by using RT-PCR.The gene of interest was firstly cloned into a shuttle vector pAdTrack-CMV.The resultant plasmid was linearized by digesting with restriction endonuclease Pme Ⅰ,and subsequently transformed into E.coli.BJ5183 cells with an adenoviral backbone plasmid pAdEasy-1.Finally,the linearized recombinant plasmid was transfected into adenovirus packaging cell lines 293 cells.Recombinant adenovirus vAd-IL-10 was obtained.The expression of green fluorescent protein(GFP) was observed under fluorescent microscope.293 cells were cultured in 96-well culture plate with 1 ?104 cells per well.Condensed virus stock solution was added into the plate at different ratios.Recombinant adenoviruses titer was determined.Three days later,total RNA was extracted from 293 cells by TRIzol one-step method,and contaminant DNA was digested by DNaseⅠ.Electrophoresis detected the expression of IL-10 mRNA.RESULTS:①GFP expression was observed 16 hours after packing of the linearized recombinant adenoviruses in 293 cells.The amplification product of replicationdeficient Ad-IL-10 virus was transfected into adenovirus packaging cell lines 293 cells.When the fourth and fifth generations were seeded in virus for 24-48 hours,fluorescence was found in almost cells,and 5.5?108 pfu/mL titer of Ad-IL-10 was obtained.Titer of vAd-GFP was 9.0?108 pfu/mL.②Total RNA was extracted from transfected 293 cells.Electrophoresis showed that 580bp amplification product was expressed obviously and recombinant adenovirus was duplicated in 293 cells.CONCLUSION:The recombinant adenoviral vector carrying IL-10 gene is successfully constructed using AdEasy system.Moreover,vAd-IL-10 recombinant adenovirus with high titer is prepared and transcribed in 293 cells.