In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.
Genes, sry/*genetics ; Gonadal Dysgenesis, 46,XX/genetics ; Gonadal Dysgenesis, 46,XY/genetics ; Sex Chromosome Disorders/*genetics ; Sex-Determining Region Y Protein/*genetics

An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP). The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age. The symptoms observed in other family members included night-blindness, impaired vision and visual field loss. Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP. The affected and unaffected family members were tested for mutations in a range of candidate genes. The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr.
DNA Mutational Analysis ; Family Health ; *Genes, Dominant/genetics ; Pedigree ; *Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Retinitis Pigmentosa/*genetics ; Sequence Analysis, DNA

Objective To explore chest physical therapy combined with improved postural drainage method, applied in patients with esophageal cancer after operation .Methods A total of 60 patients with esophageal cancer after operation from October 2010 to October 2012 were selected and randomly divided into observation group ( n=30 ) and control group ( n=30 ) .Control group received the routine nursing such as chest physical therapy (roll over, right back, take a deep breath and cough) and wet phlegm,while observation group received the improved postural drainage on the basis of routine nursing .Then, compared two groups of removal time of chest drainage tube , from bed activity time , postoperative pneumonia , pulmonary atelectasis situation.Results Patients of chest drainage tube removal time [(2.433 ±1.063) vs (3.066 ±1.112)], from bed activity time [(1.950 ±1.044) vs (2.666 ±1.109)] in observation group was significantly shorten than that in control group (t =2.263,3.006;P <0.05).And the incidence of postoperative atelectasis in observation group was significantly lower than that in control group (3.3%vs 16.7%;χ2 =4.043,P<0.05). While no significant difference was found in the incidence of pneumonia between observation group and control group ( P >0.05 ).Conclusions Chest physical therapy combined with improved postural drainage can effectively prevent the incidence of postoperative atelectasis , which is advantageous to chest drainage and the recovery of lung function and .

OBJECTIVETo evaluate the adhesion, proliferation and differentiation of osteoblast-like cells on the ultraviolet (UV)-treated titanium in different storing environment, and to find a way to enhance the bioactivity of titanium and to prevent its age-related degradation.

METHODSAcid-etched titanium disks stored under ambient conditions for 4 weeks and treated with UV light for 48 h.Then disks were divided into three groups and placed in a sealed container for 0 h (no-stored,NO group) , 4 weeks (air-stored, AS group) or in a sealed container filled with nitrogen for 4 weeks (nitrogen-stored,NS group) respectively. A group of UV-untreated titanium served as negative control (NC group).The surface morphology was evaluated using scanning electron microscopy (SEM), and hydrophilicity of disks were measured using contact angle measuring device. Cell counting kit-8 was used to measure the cell adhesion and proliferation. Cell differentiation was evaluated by testing alkaline phosphatase (ALP) activity using ALP reagent kit.

RESULTSThere was no difference in surface topography among groups.Contact angels in NS group [(67.70 ± 3.59)°] and NO group [(0.70 ± 0.28)°] were smaller than the others (P < 0.05). Cell adhesion in NS group at 2 h and 4 h point was (0.237 ± 0.006) and (0.578 ± 0.039), respectively, and proliferation at 3 d and 5 d point was (0.743 ± 0.026) and (1.548 ± 0.046) respectively, which were significantly higher than those in AS group [(0.158 ± 0.036), (0.400 ± 0.010), (0.499 ± 0.019) and (1.174 ± 0.062)] and in NC group [(0.161 ± 0.024), (0.390 ± 0.011), (0.508 ± 0.015) and (1.209 ± 0.025)] at the same time point (P < 0.05). How ever the results mention above in the NS group were lower than those in the NO group (P < 0.05). No difference were found between data from the AS group and NS group (P > 0.05). Osteoblast-like cells had an abundant spread on NS and NO group during 2 h incubation, but did not exactly spread on AS and NC group after incubation for 4 h. No difference were found in ALP among groups.

CONCLUSIONSUV treatment can enhance bioactivity of titanium, and nitrogen storage can slow down its biological aging.

Alkaline Phosphatase ; metabolism ; Animals ; Biocompatible Materials ; chemistry ; Cell Adhesion ; radiation effects ; Cell Differentiation ; radiation effects ; Cell Proliferation ; radiation effects ; Cells, Cultured ; Mice ; Microscopy, Electron, Scanning ; Nitrogen ; chemistry ; Osteoblasts ; cytology ; metabolism ; Surface Properties ; Titanium ; chemistry ; radiation effects ; Ultraviolet Rays

italic>Ardisia crispa (Thunb.) A. DC. is a traditional Miao medicinal herb with significant therapeutic effects in the treatment of sore throat, tonsillitis, edema of nephritis and bruising and rheumatism, etc. Ardisia crispa var. amplifolia and Ardisia crispa var. dielsii are varieties of A. crispa. A. crispa var. amplifolia and A. crispa var. dielsii are controversial in terms of species evolutionary relationships and taxonomic identification. In this study, we sequenced the whole genome sequences of A. crispa var. amplifolia and A. crispa var. dielsii chloroplasts using Illumina platform, assembled, annotated and characterized them, compared the structural features and degree of variation among chloroplast genomes using bioinformatics methods, and also downloaded constructing phylogenetic trees to analyze the phylogenetic relationships of chloroplasts in Primulaceae and Myrsinaceae using whole genome sequence information. The results showed that the complete chloroplast genome sequences of A. crispa var. amplifolia and A. crispa var. dielsii were 156 749 bp and 156 748 bp in length, with 132 genes annotated, including 87 protein-coding genes; the codon preference of A/U was greater than that of G/C; The differences in the coding regions of rps15 and rpoB genes in the comparative genome analysis can be used as loci for molecular identification of the two species; the differences in the coding regions of ycf1, ycf2, rpoC1, ycf3, petD and rpl16 genes in the chloroplast genome compared with those of the same genus can be used as loci for identification of the genus. In the phylogenetic results, A. crispa var. amplifolia and A. crispa var. dielsii were clustered together with 100% support, indicating that they are closely related. In this research, we analyzed the chloroplast genome structure and phylogenetic relationships of A. crispa var. amplifolia and A. crispa var. dielsii, providing an important theoretical basis for their molecular identification, genetic variation, breeding and phylogenetic analysis.

An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP). The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age. The symptoms observed in other family members included night-blindness, impaired vision and visual field loss. Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP. The affected and unaffected family members were tested for mutations in a range of candidate genes. The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr.
DNA Mutational Analysis ; Family Health ; Female ; Genes, Dominant ; genetics ; Humans ; Male ; Middle Aged ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Retinitis Pigmentosa ; genetics ; Sequence Analysis, DNA

In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.
Female ; Genes, sry ; genetics ; Gonadal Dysgenesis, 46,XX ; genetics ; Gonadal Dysgenesis, 46,XY ; genetics ; Humans ; Male ; Sex Chromosome Disorders ; genetics ; Sex-Determining Region Y Protein ; genetics

BACKGROUND: Gastric intestinal metaplasia (GIM) is generally considered to be the main mucosal background for the development of gastric adenocarcinomas. Using linked color imaging (LCI), we noticed that the color pattern in areas of GIM was purple mixed with white on the epithelium with signs of mist that were detected by the non-magnifying LCI observation. We have termed this endoscopic finding "Purple in Mist" (PIM). The aim of this study was to investigate whether PIM could be a useful optical sign for predicting GIM. METHODS: We prospectively evaluated consecutive patients undergoing endoscopy for various indications. The endoscopist used the LCI system to carefully observe the gastric antrum, body and angulus. When a PIM was identified in the surface layer, targeted biopsies were subsequently taken from this part. If the suspected area had no PIM on the surface, targeted biopsies were also taken. RESULTS: Sixty-three consecutive patients were included in this study. The prevalence of intestinal metaplasia (IM) was 29/63 (46%). In PIM-positive patients, the prevalence of IM was 23/26 (89%). Of these patients, 146 biopsy specimens were included in this study. For the diagnosis of IM, compared to histological assessment, the LCI finding had an accuracy of 91.1% (95%CI: 86.5%-95.7%), a sensitivity of 89.8% (95%CI: 81.3%-98.3%), a specificity of 91.8% (95%CI: 86.3%-97.2%), a positive predictive value of 84.6% (95%CI: 74.8%-94.4%), and a negative predictive value of 94.7% (95%CI: 90.1%-99.2%). CONCLUSIONS: A positive PIM finding in a suspicious lesion on LCI would complement LCI diagnosis of possible IM because of the positive predictive value of PIM. PIM could be a novel endoscopic marker for IM. TRIAL REGISTRATION ClinicalTrials.gov, No. NCT03092414; https://clinicaltrials.gov/ct2/show/NCT03092414?id=NCT03092414&rank=1.
Adult ; Aged ; Female ; Gastric Mucosa ; diagnostic imaging ; Gastroscopy ; methods ; Humans ; Male ; Metaplasia ; diagnostic imaging ; Middle Aged ; Prospective Studies ; Stomach Neoplasms ; diagnostic imaging

Objective To explore application effect of modified postural drainage on treating stubborn pulmonary infection after cardiothoracic surgery.Methods Totals of 88 patients with stubborn pulmonary infection after cardiothoracic surgery were chosen,and randomly divided into the experimental group (n =47)and the control group (n =41).The control group received conventional drug therapy and nutritional support treatment,while the experimental group received modified postural drainage method in addition.Two groups'treating time,rehabilitation conditions,antibiotic use time were compared.Results Fifteen days after modified postural drainage,41 cases in the experimental group and 21 cases in the control group had smaller lesion,and the difference was statistically significant (x2 =32.19,P ＜ 0.01).The score of physical function,physical role,general health condition,vitality,and psychological health in SF-36 scale was respectively (52.22 ±9.27),(56.87 ± 9.22),(58.69 ± 7.54),(49.33 ± 8.25),(53.28 ± 7.89) in the experimental group,and (41.54 ± 10.11),(44.28 ± 10.41),(45.22 ± 8.29),(33.21 ± 9.57),(42.74 ± 8.03) in the control group,and the differences were statistically significant (t =3.45,2.65,4.21,3.54,2.58,respectively;P ＜0.05).There were no obvious adverse reactions in both groups.Conclusions Modified postural drainage,better than simple drug therapy,can promote the recovery of stubborn pulmonary infection after cardiothoracic surgery.

BACKGROUNDPeople have more and more concerned about allitridum as studies have shown that taking more raw garlic associated with a lower risk for cancers of the alimentary system. In the present study, we tried to examine whether a large dose of allitridum and a microdose of selenium prevent gastric cancer.

METHODSA double-blind intervention study was performed on the participants aged (35 - 74) years, who had matched at least one of the following criteria: (1) a medical history of stomach disorder, (2) a family history of tumour, or (3) smoking and/or alcohol consumption. A total of 2,526 and 2,507 persons were randomly enrolled into intervention group and control group respectively from 288 natural villages of seven communities in Qixia County, Shandong Province, China. Each person of the intervention group orally took 200 mg synthetic allitridum every day and 100 microg selenium every other day for one month of each year during November 1989 to December 1991. At the same time, people in control group were given 2 placebo capsules containing corn oid with the identical appearance to that in the intervention group.

RESULTSFor all subjects the large dose of allitridum was accepted and no harmful side effects were found during the study. In the first follow-up five years (1992 - 1997) after stopping the intervention, the morbidity rates of malignant tumours in the intervention group declined by 22%, in contrast to the control group, declined by 47.3%. After adjusting for age, gender, and other potential confounders, relative risks (RRs) for all tumours and gastric cancer of the whole population were 0.67 (95% CL: 0.43 - 1.03) and 0.48 (95% CL: 0.21 - 1.06), respectively, and for male group they were 0.51 (95% CL: 0.30 - 0.85) and 0.36 (95% CL: 0.14 - 0.92), respectively. No signigicantly protective effect was found for the female subgroup.

CONCLUSIONThe present study proves that large doses of allitridum and microdorse of selenium may effectively prevent gastric cancer, especially in men.

Adult ; Aged ; Allyl Compounds ; administration & dosage ; Double-Blind Method ; Female ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Selenium ; administration & dosage ; Stomach Neoplasms ; prevention & control ; Sulfides ; administration & dosage