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

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 ; 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 the influence of self-designed enterostomy scale on future quality of life of colostomy patients after discharge.Methods Totals of 194 colostomy patients were randomly divided into the observation group and the control group.The observation group used enterostomy scale together with nurses during hospitalization and alone after discharge,while the control group did not use the scale.Telephone follow-ups and visits were conducted 1,3 and 6 months after discharge,and SF-36 score and complications were compared between two groups.Results The rate of complication was 15.5％ in the observation group,obviously lower than 38.1％ in the control group,and the difference was statistically significant (x2 =12.56,P＜0.01).There were no statistically significant differences on SF-36 scores between two groups before intervention(P ＞ 0.05).After 6 months of intervention,the score of physical function,physical role,body pain,general health,vitality,social function and health change was respectively (89.39 ± 5.42),(85.30 ± 5.86),(84.07 ± 5.83),(77.80 ± 6.19),(67.82 ± 6.46),(84.71 ± 6.35),(49.68 ± 4.65) in the observation group,(84.27 ± 3.18),(82.91 ± 3.34),(82.12 ± 3.19),(74.39 ± 4.99),(66.21 ± 4.68),(77.64 ± 5.55),(47.39 ± 4.39) in the control group,and the differences were statistically significant (t =8.595,3.731,3.069,5.064,2.197,9.763,5.626,respectively; P ＜ 0.05).And there was no statistically significant difference on emotion role and mental health (P ＞ 0.05).Conclusions Application of enterostomy scale can reduce the rate of complications as well as improve the quality of life for colostomy patients.

OBJECTIVETo determine the causative mutation in a 5 generation pedigree with autosomal dominant retinitis pigmentosa (ADRP).

METHODSGenomic DNA from four patients and 4 normal persons in the same pedigree suffering ADRP were extracted, and subsequently eight exons of three ADRP candidate genes were screened for mutations by a combined polymerase chain reaction-single strand conformation polymorphism and DNA sequencing techniques.

RESULTSA new point mutation in rhodopsin gene at codon 52 of exon 1 (TTC to TAC) that resulted in a substitution of Tyr to Phe was detected in the four affected family members, but not in the four control individuals from the same pedigree.

CONCLUSIONA causative mutation of rhodopsin gene was identified in a large Chinese pedigree with ADRP. The present study confirmed the molecular genetic heterogeneity of ADRP.

Adult ; Base Sequence ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Family Health ; Female ; Genes, Dominant ; genetics ; Genetic Predisposition to Disease ; genetics ; Genetic Testing ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Polymorphism, Single-Stranded Conformational ; Retinitis Pigmentosa ; diagnosis ; genetics ; Rhodopsin ; genetics

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

Objective:To explore therapeutic effect of percutaneous coronary intervention(PCI)combined tirofiban hydrochloride on aged patients with acute ST elevation myocardial infarction(ASTEMI)and its influence on cardiac function and myocardial microcirculation.Methods:A total of 90 aged ASTEMI patients undergoing PCI in our hospital from Jul 2013 to Mar 2016 were selected.According to hospitalization order,they were randomly and e-qually divided into pure PCI group and combined treatment group(received tirofiban based on pure PCI group), both groups were treated for one month.ST segment regression degree,corrected TIMI frame count(CTFC)and TIMI flow grade after PCI,contrast agent acoustic peak intensity in myocardial microcirculation(PI)and serum CK-MB peak concentration before and after PCI,LVEF,LVEDd and LVEDV before and six months after PCI, and incidence rate of adverse events were measured and compared between two groups.Results:Compared with pure PCI group after PCI,there were significant rise in ST segment regression degree[(43.8 ± 7.1)% vs.(66.2 ± 8.2)%],TIMI flow grade[(2.1 ± 0.5)grade vs.(2.9 ± 0.6)grade]and PI[(7.1 ± 1.1)vs.(8.6 ± 1.2)],and sig-nificant reductions in CTFC[(27.3 ± 8.0)frame vs.(18.9 ± 6.6)frame],and serum CK-MB peak level[(296.5 ± 58.1)U/L vs.(199.3 ± 32.4)U/L]in combined treatment group,P= 0.001 all.Compared with pure PCI group on six months after PCI,there was significant rise in LVEF[(54.2 ± 8.3)% vs.(61.1 ± 8.0)%],and signifi-cant reductions in LVEDd[(48.1 ± 7.7)mm vs.(41.3 ± 8.1)mm]and LVEDV[(85.4 ± 10.6)mm3vs.(80.2 ± 10.4)mm3]in combined treatment group,P<0.05 or <0.01.Total incidence rate of adverse events of com-bined treatment group was significantly lower than that of pure PCI group(8.89% vs.26.67%),P=0.001.Con-clusion:PCI combined tirofiban hydrochloride can significantly improve myocardial microcirculation and cardiac function with low incidence rate of cardiovascular adverse events.The mechanism may be related to improving effect of tirofiban hydrochloride on myocardial microcirculation.

Objective To examine the taurine levels and determine the influence of antenatal taurine on the taurine content in the brains of fetal rats with intrauterine growth restriction (IUGR).Methods Fifteen pregnant rats were randomly divided into 3 groups:normal control group,IUGR group and the IUGR + antenatal taurine supplement group(taurine group) (n =5).IUGR models were induced by low protein diet throughout gestation period.Taurine was added to the diet of the taurine group with a dose of 300 mg/(kg · d) from 12 days after conception until natural delivery.Two fetal rats were randomly selected from each nest and were sacrificed to obtain the brains,and the taurine levels in fetal rat brains were detected by high performance liquid chromatography-mass spectrometry.Results The average weight of fetal rats in the normal control group,the IUGR group and the taurine group were (6.619 ± 0.413) g,(4.509±0.454) g,(5.176 ±0.436) g,there was a significant difference among the 3 groups(F =429.818,P ＜ 0.01).The taurine levels in fetal rat brain in the normal control group,the IUGR group,and the taurine group were (2.399 ±0.134) × 103 μg/g,(1.881 ±0.166) × 103 μg/g and(2.170 ±0.191) × 103 μg/g,there was a significant difference among the 3 groups(F =24.828,P ＜ 0.01).Conclusion Antenatal taurine supplementation can significantly increase the taurine level in fetal rat brain with IUGR.