Asian Continental Ancestry Group ; Calcinosis ; Colitis ; pathology ; Female ; Humans ; Middle Aged

Objective To identify the disease-causing gene mutation in families with anterior segment dysgenesis (ASD).Methods Two ASD families coming from Henan and Hebei provinces were enrolled in this study.Ocular examinations were performed,and periphery blood specimens were collected from each family member under the informed consent.The blood samples of 2 patients and 1 normal person in family 1 and 1 patient and 1 normal person in family 2 were analyzed by the whole exome sequences.The candidate genes were verified by Sanger sequence and predicted damages by PolyPhen-2 and SIFT Human Splicing Finder software.Results Family 1 including 9 patients were examined in serial 3 passages,which conformed to autosomal dominant inheritance pattern.Clinical examination revealed binocular anterior segment dysgenesis in the 9 patients.There were 13 SNV and 55 InDel candidate mutations.And missense mutation c.T2A(p.M1K)on PAX6 gene was found.Family 2 included 8 members,and 2 patients were examined.The splicing mutation c.357 + 1g ＞ c on the same gene was found.Conclusion T2A(p.M1 K) and c.357 + 1 g ＞ c mutations in PAX6 gene are responsible for ASD.Whole exome sequence provides a new approach to detect diseasecausing mutation of ASD with diversity clinical phenotypes.

Purpose To investigate the clinicopathological and immunohistochemical features of primary renal lymphomas ( PRL) , and to discuss the diagnosis, differential diagnosis, treatment and prognosis of the tumors. Methods Clinical data of 19 patients with PRL from January 2005 to October 2014 were retrospectively analyzed. Result The 19 patients in this study, there were 11 males and 8 females and the age ranged from 37 to 85 years old (averaged 55). Patients were mainly presented with unilateral renal masses, with lumbodynia as the main symptom. 13 patients underwent nephrectomy, 6 patients underwent renal biopsy and 17 patients received CHOP or R-CHOP chemotherapy. All of them were diagnosed as non-Hodgkin’ s lymphoma, with 14 cases of diffuse large B cell lym-phoma (DLBCL) (73. 684%, 14/19), 4 cases of B cell small cell lymphoma (21. 053%, 4/19), and 1 cases of T cell lymphoma (5. 263%, 1/19). Follow-up information was available in 15 patients. 12 were still alive and survived for 1~78 months, while the other 3 were dead with 1 case who died of cerebral infarction, and survived for 3~38 months ( averaged 23 months) . Conclusion PRL is an extranodal lymphoma which is rare in kidney and is often misdiagnosed as renal carcinomas due to its nonspecific clinical manifestations. The diagnosis of PRL can be confirmed by histopathological examination, immunohistochemistry and molecular analy-sis. The majority of the lymphomas are B cell lymphomas and most of them are DLBCL. The recommended treatment is surgery com-bined with chemotherapy and the prognosis is associated with the age, clinicopathological characteristics, tumor types and treatment.

To prepare the hawthorn leaves flavonoids self-microemulsifying membrane controlled-release coated drop pill, and to study its release rate in vitro and pharmacokinetics study in vivo. In order to improve the dissolution of hawthorn leaves flavonoids, self-microemulsifying technology was used to prepare the hawthorn leaves flavonoids self-microemulsion. Hawthorn leaves flavonoids self-microemulsifying drop pill was prepared with the PEG 6000. Studies were made on the in vitro release of flavonoids from hawthorn leaves self-micro-emulsifying membrane-moderated coated drop pills and the in vivo pharmacokinetic in rats. The prescription of flavonoids from hawthorn leaves self-micro-emulsifying drop pills was 0.25 g of flavonoids from hawthorn leaves, 0.25 g of iodophenyl maleimide, 0.375 g of polyethylene glycol 400, 0.375 g of cremophor RH 40 and 2 g of polyethylene glycol 6000. The optimized prescription was 4 g of ethyl cellulose 20, 0.64 g of polyethylene glycol 400, 1.8 g of diethyl phthalate, and the weight of coating materials increased by 3.5%. Flavonoids from hawthorn leaves self-micro-emulsifying membrane-moderated coated drop pills complied with the design of sustained-release in 12 h in terms of in vitro release and in vivo pharmacokinetic parameters in rats, and its bioavailability was 2.47 times of quick-release drop pills. Slightly soluble flavonoids from hawthorn leaves could be made into sustained-release preparations by the self-micro-emulsifying and coating technology.
Animals ; Chemistry, Pharmaceutical ; Crataegus ; chemistry ; Delayed-Action Preparations ; chemistry ; pharmacokinetics ; Drugs, Chinese Herbal ; chemistry ; pharmacokinetics ; Flavonoids ; chemistry ; pharmacokinetics ; Male ; Plant Leaves ; chemistry ; Rats ; Rats, Sprague-Dawley

Abortion, Spontaneous ; diagnosis ; genetics ; metabolism ; Cyclin-Dependent Kinase Inhibitor p57 ; metabolism ; Diagnosis, Differential ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Hydatidiform Mole ; diagnosis ; genetics ; metabolism ; Immunohistochemistry ; Pregnancy ; Uterine Neoplasms ; diagnosis ; genetics ; metabolism

Conjunctiva goblet cells are spread out within a stratified epithelium, and keep ocular surface homeostasis by secreting mucin.Previous research has shown conjunctiva goblet cells can secret mucin, remove debris and modulate ocular surface immune function.In this review, we will focus on biological characteristics of conjunctiva goblet cells and the effect of key factors SAM pointed domain Ets factor(SPDEF) on differentiation and function of conjunctiva goblet cells, and further understand relationship between goblet cells and eye health.

OBJECTIVE: To select the most effective method among different masking treatments, such as different thickness and transparence, tissue surface's opaque coating, and opaque resin cement to restore discolored teeth esthetically by porcelain veneer. METHODS: Four extracted intact maxillary central incisors were prepared for porcelain veneer restoration and each three heat pressed porcelain veneers from three thicknesses (0.8 mm, 1.0 mm, 1.2 mm) and two transparency(high transparence, HT and low transparence, LT))in Vita shade A2 were fabricated for each tooth, in total of 72 pieces. The surfaces of three prepared teeth were then painted to mimic situations of severe dental fluorosis, severe tetracycline teeth, and necrotic teeth. Each of the veneers was temporarily cemented to the corresponding tooth surface using try-in cements with three different colors (transparent, opaque, and yellow), then used the shade guide (3D master) and electronic colorimeter (easy shade) to record the shade of each porcelain veneer through hue, lightness, and chroma reading. After that, high-transparence porcelain veneers in thickness of 0.8 mm was fused with a layer of opaque porcelain in tissue surface, and were shade matched again after cementation. Statistic treatments were performed to analyze the difference in each masking method. RESULTS: For each 0.2 mm increase in the veneer thickness of porcelain, the average lightness was reduced by 1 unit, while the chroma was not changed which was independent of the type of the resin cements. When the thickness of the porcelain veneer was decreased to 0.8 mm, the opacity effect was not remarkable even if a low-transparence porcelain veneer was used. Transparent and yellow resin cements had poor opaque performance, while opaque resin cement could reduce the lightness by 2 units and the chroma was also reduced. The opaque layer of the tissue surface could be applied uniformly, and the lightness and chroma could be reduced to Vita 2M1 to 2M1.5 levels regardless of the color of resin cements, which suggested a stable opacity effect for different discolored teeth in this study. CONCLUSION For porcelain veneer restoration of discolored teeth, thickened veneers are the most effective means to display a natural transmittance and color. Tissue surface's opacity coatings and opaque resin cements can also be used to reduce grayscale and increase lightness.
Color ; Humans ; Materials Testing ; Prosthesis Coloring ; Resin Cements ; Tooth Discoloration/therapy*

Abstract: Objective　In order to explore the application prospects of the phenyl pyrazole insecticide fipronil for mosquito control and identify potential target genes involved in the resistance of Aedes aegypti to fipronil, and lay the foundation for an in-depth study of the resistance mechanism of Aedes aegypti to fipronil. Methods　Using Aedes aegypti sensitive strains as experimental materials, Aedes aegypti larvae were treated with fipronil, and the differences in gene expression of Aedes aegypti larvae before and after drug administration were compared at the transcriptome level using transcriptome sequencing combined with bioinformatics analysis, and the differential genes were analyzed. Results　A total of 757 differentially expressed genes were identified between the fipronil-treated group and control group, including 217 and 540 up- and down-regulated genes, respectively. Among these, the expression of glutamate-gated chloride channel (GluCls) genes varied significantly before and after treatment. Gene ontology analysis revealed that differentially expressed genes were enriched in catalytic activity, binding, metabolic processes, and membrane-related functions, while KEGG pathway analysis indicated enrichment in biosynthesis, metabolism, and life regulation processes, while the glutathione metabolic pathway was enriched in 15 differentially expressed genes. Conclusions The transcriptome results revealed that GST gene expression was significantly upregulated in fipronil-treated Aedes aegypti larvae, indicating that GST gene is involved in the development of fipronil resistance in Aedes aegypti larvae. In addition, GluCls gene expression was also significantly different before and after treatment, suggesting that GluCls migh be a potential target receptor for fipronil resistance in Aedes aegypti. As GluCls is an ideal target receptor found only in invertebrates, this discovery provides a reference and basis for further exploration of the toxicological mechanism of fipronil on Aedes aegypti.

Objective:To investigate the effect of metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) in modulat-ing the effects of oral squamous cell carcinoma (OSCC) invasion. Methods:Real-time polymerase chain reaction was employed to de-tect the expression of MALAT1 in samples of OSCC post-radical resection, normal oral mucosa samples, and oral squamous cell lines. MALAT1-siRNA was transfected into TSCCa human tongue squamous cell carcinoma cell lines. Cell proliferation was determined by methyl-thiazolyl-tetrazolium reduction assay. Cell migration and invasive ability were evaluated by scratch test and transwell assay. The expression of proteins that regulated invasion and apoptosis were examined using Western blot assay. Immunofluorescence assay was used to detect changes in epithelial-mesenchymal transition (EMT)-associated proteins in the cells. Tumor-bearing nude mouse models were established by subcutaneous implantation of TSCCa cells. Immunohistochemistry was used to detect up-regulation of proliferating cell nuclear antigen (PCNA) and matrix metalloproteinase-2/9 (MMP-2/9). Results:MALAT1 expression was significantly higher in OSCC than in normal tissues (P<0.05). MALAT1 expression was inhibited by transfecting MALAT1-siRNA. After MALAT1 expres-sion was down-regulated in TSCCa cells, proliferation was inhibited and invasion was attenuated, showing significant differences com-pared with the cells transfected with scrambled siRNA and control cells (P<0.05). Expression of N-cadherin and MMP-2/9 were down-regulated in the cells after MALAT1 was knocked down. Tumor growth was significantly slower in the MALAT1-siRNA group than in the control groups. IHC indicated that PCNA and MMP-2/9 expression of tumor tissues were significantly inhibited in MALAT1-siR-NA group. Conclusion:MALAT1 is over-expressed in human OSCC. MALAT1 reduction can inhibit the proliferation and invasion of OSCC cells. Furthermore, MALAT1 may promote OSCC invasion and metastasis by modulating EMT.

Objective To evaluate the feasibility and safety of hypothermic perfusion via renal artery balloon catheter before laparoscopic partial nephrectomy.Methods A total of 35 patients,who were arranged to receive laparoscopic partial nephrectomy during the period from March 2013 to December 2016 at the General Hospital of PLA,China,were enrolled in this study.The tumor was located in the left kidney in 22 patients and in the right kidney in 13 patients.The long diameter of the tumors was 2.3-7.0 cm,with a mean of (4.1±1.2) cm.Before laparoscopic partial nephrectomy,the implantation of renal artery balloon catheter was performed in all patients.The intraoperative renal cold-ischemia time,the time spent for operation and the amount of intraoperative blood loss were recorded.The creatinine clearance rate (Ccr) and estimated glomerular filtration rate (eGFR) were determined before operation as well as at one,3 and 7 days after operation.The intraoperative and postoperative complications were analyzed.Results Successful implantation of renal artery balloon catheter was accomplished in all 35 patients,with the technical success rate being 100％.Slipping of balloon catheter before laparoscopic partial nephrectomy occurred in one patient;in 2 patients incomplete occlusion of renal artery was found during operation and artery forceps had to be used to occlude the renal artery.In the other 32 patients,laparoscopic partial nephrectomy under the condition of hypothermic perfusion via renal artery balloon catheter was successfully carried out.No severe complications occurred during and after the operation.The average cold-ischemia time of the diseased kidney was 45 (20-125) min,the mean time for interventional procedure was 28 (20-40) min,the average surgery time was 147(95-235) min,the average amount of intraoperative blood loss was 180(50-1000) ml.The Ccr values determined before and at one,3,7 days after nephrectomy were (96.5±15.1),(75.2±10.5),(54.3±13.8) and (91.8±14.1) ml/min respectively.The eGFR values determined before and at one,3,7 days after nephrectomy were (99.5±15.3),(70.3±12.5),(65.5±11.7) and (96.8±12.3) ml·min-1·m-2 respectively.Statistical analysis indicated that in both groups the preoperative and 7-day postoperative Ccr values and eGFR values were significantly different from their one-day and 3-day postoperative values (P＜0.01),but no statistically significant differences existed between preoperative values and 7-day postoperative ones (P＞0.05).Conclusion Hypothermic perfusion via renal artery balloon catheter before laparoscopic partial nephrectomy is clinically safe and feasible,it can prolong the safe time of renal ischemia and protect renal function.