ABSTRACT
OBJECTIVE@#To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta.@*METHODS@#Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing. Semen sample of the husband was collected for the extraction of genome DNA, and whole genome amplification (WGA) was performed for single sperms isolated from the sample.@*RESULTS@#WES has identified a heterozygous c.1378G>A (p.G460S) variant of the COL1A2 gene in the fetus, which was predicted to be pathogenic but not detected in peripheral blood samples of both husband and wife. The heterozygotic variant was detected in semen DNA from the husband. Among 15 spermatozoa, 4 were found to harbor the variant.@*CONCLUSION@#The fetus was diagnosed with osteogenesis imperfecta, and the gonadal mosaicism probably accounted for the repeated abnormal pregnancies. Possibility of gonadal mosaicism should be considered when counseling couples with normal phenotype and genotype but recurrent abnormal pregnancies and/or births of children with similar phenotypes and genetic variants.
Subject(s)
Adult , Child , Female , Humans , Male , Pregnancy , Collagen Type I , Genetics , Fetus , Gonadal Disorders , Genetics , Mosaicism , Mutation , Osteogenesis Imperfecta , Diagnosis , Genetics , Prenatal Diagnosis , Exome SequencingABSTRACT
Intertrochanteric fracture of femur (IFF) is a common fracture type in traumatic orthopedics,which seriously affects patients' quality of life and health.Studies have shown that the fibrinolytic system can be activated in the invasive operation of IFF,which leads to massive blood loss during and after operation,especially hidden blood loss.Tranexamic acid,as an anti-fibrinolytic drug,can effectively reduce fibrinolytic activity by inhibiting fibrinolysis induced by fibrinolytic enzymes in order to stop bleeding.In recent years,with the diversified development of surgical hemostasis methods and the continuous exploration of hemostatic drugs,the application of anti-fibrinolytic drugs represented by tranexamic acid in perioperative period of IFF has gradually increased.Based on literatures at home and abroad,this paper aims to summarize the research progress of the application of tranexamic acid to reduce the perioperative hidden blood loss in intertrochanteric fracture,providing reference for clinical treatment decision.
ABSTRACT
Objective To investigate risk factors for the development of advanced schistosomiasis. Methods The case\|control study was designed with a match of 1∶1 and 1∶2. Healthy persons and chronic schistosomiasis patients were used as control. Each group was composed of 213 cases. Items investigated included: history of schistosomiasis and treatment, exposure to the contaminated water, social\|economical condition and nutritional status, other concomitant diseases. Cellular and humoral immunity, HBVMs and ABO blood groups were also detected. Statistical analysis was performed by 1∶1 and 1∶2 matched single and stepwise conditional logistic regression analysis with SAS software. Results By stepwise conditional logistic regression analysis, it was revealed that number of schistosomiasis examination(OR=1^168-1^311), interval from first infection to last treatment(OR=1^142), interval from first infection to this investigation (OR=1^089), \{HBsAg\++\}(OR=4^683-10^759), \{HBcAb\++\} (OR=2^873), \{HBsAg\++\}+\{HBeAb\++\}+\{HBcAb\++\}(OR=7^64) were risk factors of developing advanced schistosomiasis. The average living space and cellular immunity were lower in advanced schistosomiasis patients than others. No association was found between advanced schistosomiasis and ABO blood groups. Conclusion The development of advanced schistosomiasis is associated with repeated infections, and delayed or incomplete treatment. Combined infection with hepatitis B, poor socio\|economic conditions and impaired cellular immunity may increase the pathogenetic risk of schistosomiasis.