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Objective To explore the genetic characteristics of fetuses with congenital heart diseases(CHD)diagnosed by prenatal ultrasound.Methods Data of 613 singletons with prenatal ultrasonic diagnosed CHD were retrospectively analyzed.The cardiac structural abnormalities were classified into 8 types.Whole-exome sequencing(WES)was performed for 40 fetuses since chromosomal karyotyping analysis and/or chromosomal microarray analysis(CMA)showed benign copy number variations(CNV)or variants of uncertain significance(VUS).Results Among 613 fetuses,479 fetuses underwent both chromosomal karyotyping analysis and CMA,genomic abnormalities were detected in 60 fetuses(60/479,12.53％).Among 134 fetuses underwent only CMA,genomic abnormalities were found in 4 fetuses(4/134,2.99％).According to results of chromosomal karyotyping analysis and/or CMA,abnormalities were noticed in 40 fetuses(40/568,7.04％)among 568 fetuses with isolated CHD,while in 15 fetuses(15/45,33.33％)among 45 fetuses with non-isolated CHD,respectively.Abnormality detection rate of chromosomal karyotyping analysis and/or CMA in fetuses with complex CHD(10/41,24.39％)was higher than that in fetuses with non-complex CHD(54/572,9.44％).Among complex CHD fetuses,abnormality detection rate was the highest in fetuses with conotruncal defect(CTD)combined with malformation of venous system(4/13,30.77％),while among fetuses with non-complex CHD,situs inversus viscerum had the highest detection rate(1/4,25.00％).Among 40 fetuses chromosomal karyotyping analysis and/or CMA showed benign CNV or VUS,WES indicated pathogenic CNV/likely pathogenic CNV(P/LP)in 3 fetuses,VUS in 3 fetuses and benign CNV in 34 fetuses.Conclusion Fetuses with CHD,especially extracardiac malformations had possibilities of genomic abnormalities.Fetuses with CTD combined with malformation of venous system had higher possibilities of genomic abnormalities.Compared with CMA alone,chromosomal karyotyping analysis combined with CMA was helpful for detecting genomic abnormalities.
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Osteosarcopenia is a geriatric disease in which sarcopenia and osteoporosis coexist. With the aging, the incidence of osteosarcopenia will increase significantly in the next few decades, with adverse consequences including a higher risk of falls, fractures, weakness, and death. Early diagnosis and intervention of osteosarcopenia are of great significance in improving the quality of life of the elderly. This article reviews the diagnosis, molecular mechanisms, adverse consequences, and possible treatment options for osteosarcopenia.
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ObjectiveTo study the effect on quality of life and the bone turnover markers of Buzhong Yiqitang in the treatment of senile osteoporotic vertebral compression fracture （OVCF， syndrome of Qi deficiency in spleen and stomach） after operation based on ''spleen governing muscle''. MethodA total of 135 senile patients with OVCF treated by percutaneous kyphoplasty in Rizhao Hospital of Traditional Chinese Medicine from January 2020 to January 2021 were enrolled in this study. They were randomly assigned to two groups on the basis of block randomization at a ratio of 2∶1 （90 cases in the observation group and 45 cases in the control group）. Both groups were administrated with calcitriol capsules （0.5 μg·d-1） and caltrate D （1 200 mg·d-1） for basic treatment of osteoporosis. The observation group was additionally treated with Buzhong Yiqitang. Bone mineral density （BMD）， procollagen type Ⅰ N-terminal propeptide （PINP）， osteocalcin （OST）， β cross-linked C-telopeptide of type 1 collagen （β-CTx）， appendicular skeletal muscle mass index （ASMI）， and quadriceps muscle strength were compared between the two groups before and 6， 12 months after treatment. Additionally， traditional Chinese medicine （TCM） symptom score and visual analogue score （VAS） before and 3， 6 months after treatment， as well as quality of life questionnaire of the European Foundation for osteoporosis （QUALEFFO） score before and 3， 6， 12 months after treatment， were compared between the two groups. ResultA total of 85 patients in the observation group and 41 patients in the control group were followed up. The general curative effect of the observation group was better than that of the control group （χ2=10.503， P<0.05）. Specifically， the observation group had higher PINP， BMD， ASMI， and quadriceps muscle strength but lower β-CTx， TCM symptom score， VAS， and QUALEFFO score than the control group （P<0.05， P<0.01）. No adverse reactions related to Buzhong Yiqitang were observed. ConclusionBuzhong Yiqitang can regulate bone metabolism indexes， promote osteogenesis， increase bone density， enhance skeleton appendiculare and quadriceps muscle strength， relieve clinical symptoms， and improve quality of life in patients with senile OVCF （syndrome of Qi deficiency in spleen and stomach）， being worthy of promotion in clinical application.
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Objective To screen the serum protein molecular markers of postmenopausal osteoporosis by the proteomicsanalysis using Tandem Mass Tag (TMT) combined with liquid chromatography-tandem mass spectrometry (LC-ESI-MS/MS).Methods 20 serum protein samples were recruited (10 cases of postmenopausal patients with osteoporosis and 10 cases of postmenopausal women without osteoporosis)and the high abundance ratios protein was removed,differentiation protein was extracted and labeled with TMT reagent.Then,mass spectrometric detection,data analysis of differentially expressed proteins,and analysis of biological information were carried out.Results 87 significantly differentially expressed proteins were screened from the differentiated protein expression profile by LC-ESI-MS/MS combined with TMT labeling.While 50 proteins were up-regulated,and 37 proteins were down-regulated.Differentially expressed proteins were analyzed by GO annotation,these proteins are mainly involved in 15 kinds of biological processes,7 kinds of cellular component,6 kinds of molecular function.RAB7A,TSP1,GAS6,SPP24 were screenedas candidate proteins which were related to mechanism of bone remodeling of osteoporosis.By STRING 10.0 protein interaction network analysis tools,RAB7A,TSP1,GAS6 were located in the center of the interaction network.SPP24 was located at edge of the network,but it is directly related to the protein BMP-2 of bone remodeling.RAB7A,TSP1,GAS6,SPP24 may be associated with the pathogenesis of postmenopausal osteoporosis.Conclusion These results provide that the proteomics analysis by using TMT coupled with LC-ES1-MS/MS was a feasible method for screening the molecular biomarkers.It suggests that RAB7A,TSP1,GAS6 and SPP24 may be useful biomarkers which can be used both in diagnosis and treatment of postmenopausal osteoporosis.