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Objective:To analyze the genetic test results and ultrasonographic markers of 41 fetuses with short femurs and their relationship.Methods:This study retrospectively analyzed 41 fetuses who were diagnosed with short femurs by ultrasound during 19-37 gestational weeks and underwent prenatal genetic examination at the First Affiliated Hospital of Zhengzhou University from January 2018 to June 2019. According to the results of genetic examination, these cases were divided into three groups after excluding three cases of variants of unknown significance: genetically normal group, chromosome variation (including chromosomal aneuploidy and pathogenic or likely pathogenic copy number variations) group, and gene mutation (including pathogenic or likely pathogenic gene mutations) group. According to the head circumference (HC), abdominal circumference (AC) and femur length (FL), Z FL, FL/HC, FL/AC, ΔZ H-F and ΔZ H+A-2F for each fetus were calculated. One-way ANOVA and LSD- t test were used for statistical analysis. Results:(1) Among the 41 fetuses with short femurs, there were 28 in the genetically normal group, five in the chromosome variation group, three with chromosome variations of unknown significance and five in the gene mutation group. (2) In the genetically normal, chromosome variation and gene mutation groups, Z FL values were -2.78±0.77, -4.36±0.69 and -4.69±0.70; FL/HC ratios were 0.178±0.011, 0.170±0.010 and 0.131±0.022; FL/AC ratios were 0.197±0.013, 0.186±0.011 and 0.151±0.017; ΔZ H-F values were 2.49±1.09, 3.53±1.28 and 8.17±1.30; ΔZ H+A-2F values were 4.44±2.00, 6.78±2.20 and 14.28±1.26, respectively. The differences in Z FL values between the genetically normal group and the chromosome variation group as well as the gene mutation group were statistically significant (both P<0.05); so were the differences in FL/HC, FL/AC and ΔZ H-F values between the gene mutation group and the genetically normal group as well as the chromosome variation group (all P<0.05) and in any pairwise comparison of ΔZ H+A-2F among the three groups (all P<0.05). Conclusions:The genetic etiology of fetal short femurs is mainly related to chromosomal variations (including chromosomal aneuploidy and pathogenic or likely pathogenic copy number variations) and gene mutation. In fetuses with chromosome variation and gene mutation, the degree of the femoral development delay relative to the development of HC and AC is worse than that in the normal genetic results group.
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OBJECTIVE@#To assess the value of Karyomapping for the prenatal diagnosis of facioscapulohumerial muscular dystrophy type 1 (FSHD1).@*METHODS@#Peripheral blood and chorionic villi samples were collected from five families affected with FSHD1. Linkage-based diagnosis was carried out by using the Karyomapping method. Diagnosis for two fetal samples was carried out with the next-generation optical mapping system.@*RESULTS@#The results of Karyomapping showed that three fetuses inherited the risky 4q35 region of the proband and two fetuses did not. The fetuses of families 1 and 2 received further diagnosis by the next-generation optical mapping system, and the results were consistent with those of Karyomapping.@*CONCLUSION@#Karyomapping has enabled prenatal diagnosis for the five families affected with FSHD1. The method was faster and simpler compared with conventional strategies, though its feasibility still needs further validation. Since there were no SNP loci designed on the Karyomap chip for the DUX4 gene and its 3' flanking regions, misjudgment due to chromosomal recombination could not be completely eliminated. The accuracy of this method still needs further validation.
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Feminino , Humanos , Gravidez , Ligação Genética , Distrofias Musculares , Diagnóstico Pré-NatalRESUMO
Objective To investigate the relationship between endoscopic diagnosis and pathological nature of gastric mucosal leukoplakia. Methods Analysis of gastric mucosal leukoplakia patients’ endoscopic features and pathological characteristics of last 3 years. Results Endoscopic diagnosis was made in 116 cases of gastric mucosal leukoplakia. Samples were gray white, round, round shaped or patchy in general observation. Diameter was 0.2 ~1.6 cm, foam cell aggregation appeared in the natural layer of mucous membrane in 88 cases (75.9 %), with varying degrees of inflammatory cells infiltration. The foam cells accumulation were observed in high rate among the gastric mucosal leukoplakia cases. Conclusion Pathological changes of gastric mucosal leukoplakia is gastric xanthoma with chronic inflammation of mucosa.
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Male infertility is one of the major diseases that affect human health and social life, and is influenced by many genetic and environmental factors. Epigenetic modification on DNA strands in response to environmental factors plays an important role in the process of spermatogenesis. Abnormalities of epigenetic regulation may affect both the quantity and quality of sperm production and result in disorders of male reproduction. We hereby review recent progress made in research on epigenetic regulation including DNA methylation, histone modification and non-coding RNA related with male infertility.
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Humanos , Masculino , Pesquisa Biomédica , Metilação de DNA , Epigênese Genética , Infertilidade Masculina , Genética , RNA não Traduzido , GenéticaRESUMO
Objective:It is important to make sure hyperbaric oxygen chamber safe and stable for its generalized and high risk.Methods: The gas path, control system and operation of hyperbaric oxygen chamber should be maintained timing based on quality management and clinical using requirement.Results: Medical engineering technicians and clinical use of personnel to cooperate with each other, from the regular inspection, personnel management and preventive maintenance to make sure the safety use of hyperbaric oxygen chamber.Conclusion: Making relative system and emergence plan, strengthening train to users and strict management can make its used safe.
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Objective To investigate the specific activity of 24Na per unit neutron fluence,AB/Φ,in blood produced for Chinese reference man irratiaded by 252Cf neutron source,and to analyze the effects of scattering neutrons from ground,wall,and ceiling in irradiation site on it.MethodsA 252Cf neutron source of 3 × 108 n/s and the anthropomorphic phantom were used for experiments.The phantom was made from 4 mm thick of outer covering by perspex and the liquid tissue-equivalent substitute in it.The data of phantom dimensions fit into Chinese reference man.The weight ratios of H,N,O and C in substitute equal from source to long axis of phantom were 1.1,2.1,3.1 and 4.1 m,respectively.Both the neutron source and the position of xiphisternum of the phantom were 1.6 m above the floor.ResultsThe average specific activity of 24Na per unit neutron fluence was related to the irradiation-distances,d,and its The AB/ΦM corresponds to that of phantom irradiated by plane-parallel beams,and the value is about more 3% than that by BOMAB phantom reported in literature.It has shown that floor-( wall-)scattered neutrons in irradiation site have significant contribution to the specific activity of 24Na ,but they contributed relatively little to the induced neutron doses.Consequently,using the specific activity of 24 Na for assessing accidental neutron doses received by an individual,the contribution of scattered neutrons in accident site will lead dose to be overestimated,and need to be correct.
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AIM: To demonstrate the susceptibility of cell apoptosis varies during the progress of cell malig- nant transformation from human being in vitro. METHODS: A SV40T - transfected human bronchial epithelial im- mortalized cell line (called M) was selected in this work, which has acquired some characteristics of malignant trans- formation at the later passage. The alterations of apoptosis and bcl- 2, P53 genes between early and later passage of M cells were investigated by means of TDT labeling in situ, chromosome FISH, RNA and protein testing, etc. RE- SULTS: Incidence of apoptosis induced by cis - platin was significantly lower in later than in early passages of M. Levels of bcl - 2 mRNA and protein in later passages were higher than early passages of M, and overxpression of bcl -2 was accumulated following the development of cellular malignancy. P53 protein level was as high in early as in later passages. CONCLUSION: Overexpression of bcl - 2 decreases the cellular sensitivity to apoptotic inductors plays an important role during progress of carcinogenesis in human bronchial epithelial cancers. The inactivation of P53 protein in the SV40 - T transfected M cell line may be one of reasons of bcl - 2 overexpression, but not associated with the accumulation of bcl - 2 expressed level during cell transformation.