Objective To investigate and analyze the preventive effect of boron on the cartilage damage in rats with intake excessive fluoride. Methods Fifty-ix Sprague-Dawley rats were divided into the control group (C, intake distilled water), the excessive fluoride dose group (EF, intake distilled water with 100 ppm F-) and the boron prevention group (P, intake distilled water with 100 ppm F- as well as the supplemental boron dietary). 3 to 5 months later, fluorine contents in serum, RNA contents in costal cartilage were assayed. The morphological changes in tibia growth plate cartilage (GPC) in rats were observed. Results Although exposed to the same dose of fluoride, the fluorine contents in serum in rats of P group decreased notably compared with those of EF group, the damage of tibia GPC under optical and electron microscope lessened significantly, and RNA contents in costal cartilage increased obviously in the 3rd month. Conclusion Boron added could decrease the fluorine level in the body and relieve the toxic symptom of excess fluoride, and thus boron has a preventive effect on skeletal fluorosis.

OBJECTIVETo screen for CGG repeats in the FMR1 gene among patients with fragile X syndrome and carriers of pre-mutations.

METHODSPotential full and pre-mutations of the FMR1 gene were detected with a Tri-primer-florescence PCR-Sanger sequencing method. The results were validated with positive and negative controls.

RESULTSAll positive and negative controls were confirmed. A male patient was found to have > 200 CGG repeats (full mutation). For a pregnant women who was heterozygous for 35/115 CGG repeats, > 200 CGG repeats were also found with amniotic fluid sample from her fetus who was a male. The result was confirmed by following selective abortion with informed consent.

CONCLUSIONTri-primer-florescence PCR-Sanger sequencing is a simple, effective and reliable method for routine screening of patients/carriers with full/pre-mutations of the FMR1 gene in the population.

DNA Primers ; genetics ; Female ; Fluorescence ; Fragile X Mental Retardation Protein ; genetics ; Fragile X Syndrome ; genetics ; Humans ; Male ; Mutation ; genetics ; Polymerase Chain Reaction ; methods

Objective To study the expression of high mobility group box protein 4 (SOX4) and β-catenin in lung tissues of preterm rats with hyperoxia exposure,and to study its significance.Method One-day-old preterm Sprague Dawley rats were randomly assigned into 4 groups:95％ hyperoxia group,70％ hyperoxia group,45％ hyperoxia group and air group.After three days,pathological changes of the lung tissues were observed by hematoxylin eosin staining,the mRNA expressions of SOX4 and β-catenin in lung tissues were detected by semi-quantitative reverse transcription polymerase chain reaction,and the protein expressions of SOX4 and β-catenin in the lung tissues were measured by western blot.Result The structure of lung tissues in air group was normal.45％ hyperoxia group represented mainly effusion and inflammatory cell infiltration,70％ and 95％ hyperoxia group showed acute lung injury characterized by inflammatory cell infiltration,hyperaemia,hemorrhagic change,disorganization and collapse of alveolar.The expressions of SOX4 mRNA and protein were highly elevated in all hyperoxia groups than that in air group (P ＜ 0.01);Compared with 45％ hyperoxia group,the expressions of SOX4 mRNA and protein were higher in 95％ hyperoxia group (P ＜ 0.01).β-catenin mRNA,total β-catenin protein and nuclear β-catenin protein were also highly elevated in hyperoxia groups compared with air group (P ＜ 0.05).Compared with 45％ hyperoxia group,the expressions of β-catenin mRNA and total β-catenin protein were also highly raised in 70％ hyperoxia group and 95％ hyperoxia group (P ＜ 0.05).The expression of nuclear β-catenin protein was higher in 95％ hyperoxia group than that in 45％ hyperoxia group (P ＜ 0.01).Conclusion The mRNA and protein expressions of SOX4 and β-catenin in lung tissues of preterm rats were increased by hyperoxia exposure.This mechanism may take part in hyperoxia-induced preterm rats lung injury.

OBJECTIVETo investigate the HLA-A, -B allele polymorphism in the Luoba ethnic population.

METHODSHLA-A, -B DNA types in 92 healthy individuals of Luoba nationality in the Linzhi area, Tibet Autonomous Region, were investigated by polymerase chain reaction-sequence specific oligo-nucleotide (PCR-SSO).

RESULTSTen alleles at HLA-A locus, and 19 alleles at HLA-B locus in Luoba ethnic group were detected. Of the 10 HLA-A alleles detected, the three most common alleles were HLA-A*11(allele frequency: 36.40%), -A*02 (25.50%), -A*24 (23.90%), and they covered 85.80% of the total HLA-A alleles detected from the Luoba ethnic group. Of the 19 HLA-B alleles detected, the three most common alleles were HLA-B*40 (27.20%), -B*15 (11.40%) and -B*38(10.90%), and they covered 49.50% of the total -B alleles detected in the Luoba ethnic group.

CONCLUSIONThe distribution of HLA-A, -B allele polymorphism in the Luoba nationality is distinctive, but some of the gene distribution in the Luoba group is nearer to that in the Tibetan group. These are consistent with the results of ethnological, historical and sociological researches.

Alleles ; Ethnic Groups ; genetics ; Gene Frequency ; HLA Antigens ; genetics ; HLA-B Antigens ; genetics ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Tibet

OBJECTIVETo analyze the sequence polymorphisms of the mitochondrial DNA hypervariable regions I (HVR I) and HVR II in the Deng population in Linzhi area of Tibet.

METHODSmtDNAs obtained from 119 unrelated individuals were amplified and directly sequenced.

RESULTSOne hundred and ten variable sites were identified, including nucleotide transitions, transversions, and insertions. In the HVR I region (nt16024-nt16365), 68 polymorphic sites and 119 haplotypes were observed, the genetic diversity was 0.9916. In the HVR II (nt73-nt340) region, 42 polymorphic sites and 113 haplotypes were observed, and the genetic diversity was 0.9907. The random match probability of the HVR I and HVR II regions were 0.0084 and 0.0093, respectively. When combining the HVR I and HVR II regions, 119 different haplotypes were found. The combined match probability of two unrelated persons having the same sequence was 0.0084.

CONCLUSIONThere are some unique polymorphic loci in the Deng population. There are different genetic structures between Chinese and other Asian populations in the mitochondrial DNA D-loop region. Sequence polymorphism of mitochondrial DNA HVR I and HVR II can be used as a genetic marker for forensic individual identification and genetic analysis.

Asian Continental Ancestry Group ; ethnology ; genetics ; Base Sequence ; China ; Complementarity Determining Regions ; DNA, Mitochondrial ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Polymorphism, Genetic ; Tibet

Neural stem cell is a kind of stem cells that can differentiate into neural and glial cells. While Müller cells, the main endogenous neural stem cell in retina,have the features to reentry into the cell cycle and differentiate into neural cells after retinal damage. Although it is highly effective for retinal Müller cell differentiation spontaneously after retinal injury in vertebrates, this feature is rigorous restricted in mammals. Recently, some transcription factors,such as Ascl1, Sox2, Lin28, Atoh7, are sufficient to drive quiescent Müller cells back in proliferation to generate new retinal neurons. Moreover, combining Ascl1 expression with a histone deacetylase inhibitor can bypass the limitation and increase the generation of new neurons in the adult retina. These regenerated neurons integrate the existing neuronal network and are able to respond to light, indicating that they can likely be used to restore vision. While these results are extremely promising, the regenerative response is still limited, likely because the proliferative capacity of mammalian Müller cells is low compared to their zebrafish counterparts. It is indeed necessary to identify new factors increasing the efficiency of the regenerative response.

Objective:To evaluate changes in operational effectiveness after the implementation of ambulatory surgical management in pars plana vitrectomy (PPV).Methods:A retrospective clinical study. 17 528 surgeries in 10 895 eyes of 10 895 patients who underwent minimally invasive PPV on an ambulatory and/or inpatient basis at Tianjin Medical University Eye Hospital from August 2015 to June 2023 were included in this study. Among them, 5 346 eyes in 5 346 cases were male; 5 549 eyes in 5 549 cases were female. The age ranged from 0 to 95 years, with the mean age of (57.74±13.15) years. 6 381 surgeries in 3 615 eyes from August 2015 to December 2018 (the initial period of day surgery) were used as the control group; 11 147 surgeries in 7 280 eyes from January 2019 to June 2023 (the expanded period of day surgery) were used as the observation group. According to the management mode of ambulatory surgery, the observation group was subdivided into the decentralized management group (January 2019 to December 2020) and the centralized management group (January 2021 to June 2023), with 2 905 and 4 375 eyes and 4 646 and 6 501 surgeries, respectively. Changes in the percentage of day surgery, average hospitalization days, and average unplanned reoperation rate were compared. The Mann-Whitney U test was used to compare numerical variables between groups; the chi-square test or Fisher's exact test was used to compare categorical variables. Results:The number of cases of daytime PPV performed in the observation group and control group was 7 852 (70.44%, 7 852/11 147) and 24 (0.38%, 24/6 381) cases, respectively, and the average hospitalization days were 1 (1) and 5 (3) d. Compared with the control group, the observation group had a significantly higher percentage of day surgery ( χ2=8 051.01) and a considerably lower mean hospitalization day ( Z=4 536 844.50), and the differences were statistically significant ( P<0.000 1). The mean hospitalization days in the decentralized and centralized management groups were 2 (3) and 1 (0) d, respectively, and unplanned reoperations were 34 (0.73%, 34/4 646) and 171 (2.63%, 171/6 501) eyes, respectively. Compared with the decentralized management group, average hospitalization days was significantly lower ( Z=1 436.94) and unplanned reoperation rate was significantly higher ( χ2=54.10) were significantly lower in the centralized management group, both of which were statistically significant ( P<0.000 1). Conclusion:PPV ambulatory management model can significantly reduce the average hospitalization day, but also results in higher rates of unplanned reoperations.