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Objective To explore the rare nonsynonymous variants of ABCA1 gene in primary open angle glaucoma (POAG).Methods A prospective cohort study was carried out.Three hundred and ninety-eight POAG patients and 198 healthy controls matched in age and gender were recruited from March 2017 to March 2018 in Eye and Ear Nose Throat (ENT) Hospital of Fudan University.The periphery blood of 2-5 ml from all the subjects was collected for extraction of DNA,and rare variant analysis of the ABCA1 gene was conducted by whole exome sequencing (WES) data of these subjects.The study protocol was approved by Ethic Committee of Eye and Ear Nose Throat Hospital of Fudan University and Sichuan Provincial People's Hospital (No.2016-32-1,and written informed consent was obtained from each subject prior to entering the study cohort.Results A total of 21 rare nonsynonymous variants (minor allele frequency MAF＜0.O1) were detected in the coding regions of ABCA1 gene in 27 subjects of the 398 POAG,with the detection rate of 6.8％.Among them,c.4310C＞A (p.Thr1437Asn),c.3772G＞T(p.Asp1258Tyr),c.775A＞G (p.Lys259Glu) and c.1507_1508insGAGGT (p.Glu503GlyfsX7) were four novel variants.In the 198 healthy controls,five rare nonsynonymous variants were detected in the ABCA1 gene from five subjects respectively,with the detection rate of 2.5％,the detection rate of nonsynonymous in POAG group was higher than that in healthy control group,showing a significant difference (x2=4.72,P =0.03,OR =2.81).Conclusions Rare nonsynonymous variants in ABCA1 is associated with the pathogenesis of POAG.These variants can enrich the variation spectrum of ABCA1.
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<p><b>OBJECTIVE</b>To investigate the characteristics of ultrasonography in haemophilic arthropathy in knee joints.</p><p><b>METHODS</b>The knee joints (n=135) of 68 patients with haemophilia A (n=59) or haemophilia B (n=9) were consecutively evaluated with ultrasonography and scored according to MELCHIORRE ultrasound score. The correlations between ultrasound score and the number of knee joint bleeding episodes, age, and World Federation Haemophilic orthopedic (WFHO) score were studied.</p><p><b>RESULTS</b>68 male patients with median age 20 (3-48) years old were enrolled in this study. The prevalences of hydrops articuli, fibrotic septa, synovial hypertrophy, synovial hypertrophy with angiogenesis, haemosiderin deposition were 39.2% (53/135), 3.0% (4/135), 77.0% (104/135), 49.6% (67/135), 37.8% (51/135), respectively; and the prevalences of cartilage damage, bone erosion, bone remodeling, osteophytes were 63.7% (86/135), 48.1% (65/135), 3.0% (4/135), 13.3% (18/135) respectively. The average ultrasound score was 5.21[95% CI (4.50-5.93)]. The ultrasound score of knees joints according to age 0-6, 7-18 and > 18 years old groups were 0.63[95% CI (0.15-1.10)], 2.88[95% CI (1.90-3.85)], 7.83[95% CI (7.07-8.60)], respectively; and the difference among groups was statistically significant (P<0.01). The significant difference of ultrasound score was not found among moderate, mild and severe haemophilia (F=0.90, P=0.914). A significant positive correlation between ultrasound and WFHO scores was demonstrated (r=0.745, P<0.01). The ultrasound score increased significantly with the increase of number of knee bleed Episodes (F=49.926, P<0.01).</p><p><b>CONCLUSION</b>The main characteristics of ultrasonography of haemophilic arthropathy in knee joints were identified as followings: synovial hypertrophy, cartilage damage, bone erosion, hydrops articuli, and haemosiderin deposition. Ultrasonography was a fast, effective, safe, and available inspection method in assessment of haemophilic arthropathy.</p>
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Adolescent , Adult , Child , Child, Preschool , Humans , Male , Middle Aged , Young Adult , Hemophilia A , Hemophilia B , Joint Diseases , Diagnostic Imaging , Knee Joint , Diagnostic Imaging , UltrasonographyABSTRACT
Many medical journals have already digitalized their publishing procedure,but not achieved digital publishing yet.Utilizing digital technology,digital publishing can achieve the functions that paper media cannot,such as information storage,fast search,real-time publishing,individualized information and interaction with readers.These functions entail digitalization of medical journals,and involve a range of macro- and micro-modifications,including laws,industry policies,personnel training,and culture development.There is a long way to go for Chinese medical journals to enter the stage of digital publishing.
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BACKGROUND: Adipose-derived mesenchymal stem cells (ADSCs) can be induced toward the chondrogenic lineages with chondrogenic medium contained transforming growth factor-β_1(TGF-β_1). However, it remains concerned about the disadvantage with use of TGF-β_1 in vitro, which can induce chemotaxis, activate inflammatory cells, cause local defect and want an ideal matrix to deliver proteins. Therefore, with advanced gene-delivery techniques, TGF-β_1 can be long-lasting expressed by transduced stem cells, which is very useful for Chondrogenic Tissue Engineering.OBJECTIVE: To master the method of construction and transfection of eukaryotic expression vector for rat transforming growth factor-β_1 and to study the possibility of gene transfection to ADSCs with this vector.METHODS: Recombining DNA techniques were applied to construct recombinant plasmid pcDNA3.1-TGF-β_1. And this plasmid was verified by restriction endonuclease mapping and DNA sequencing; Then the plasmid with TGF-β_1 gene or not was transfected into ADSCs by use of LipofectamineTM2000. After infection, transduced ADSCs were diluted and cultured with neomycin (G418). Gene transfer efficiency compared on the basis of green fluorescent protein expression was assessed.RESULTS AND CONCLUSION: Digestion of the plasmid with double restriction endo- nuclease XboⅠand Hind Ⅲ showed about two specific electrophoretic strips (1.35 bp and 5.4 kb), and the sequence of the rat TGF-β_1 gene in recombinant was concorded with that reported in Genbank. There were 80 percent of the cells which were transduced, and the expressions of mRNA and protein of TGF-β_1 in ADSCs were discovered positively. These indicated that the eukaryotic expression vector for rat TGF-β_1 (i.e. pcDNA3.1-TGF-β_1) , which is able to transfect the ADSCs, can be constructed through genetic recombination.
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Objective To compare the effect of different flow rate of oxygen inhalation on relieving scapuledynia after laparoscopic cholecystectomy(LC) with carbon dioxide pneumoperitoneum. Methods 100 patients adopted LC were divided into the 2 L/min group (n=50), the 4 Ldmin group (n=50), both re-ceived oxygen inhalation 6 hours after LC. The incidence and degree of scapulodynia and the blood- gas analysis were analyzed. Results The incidence of scapulodynia after LC in the 4 L/min group was signifi-cantly lower than that of 2 L/min group. PaCO2,PaO2 and pH in the 4 L/min group were different from those of the 2 L/min group. Conclusions Increasing flow rate of oxygen inhalation can relieve incidence and degree of scapulodynia after laparoscopic cholecystectomy.
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Analyzing the digital characteristics (chaotic and spectral features) of fetal and pregnant woman's heart period signal (HPS) can assess the autonomic nervous system function. Extracting and analyzing HPS of fetal and pregnant woman in perinatal period were realized by using the method of visual programming. The subjects were in supine position. Electrocardiography-signal (ECS) from the leads placed at symphysis pubic bone to inferior border of abdominal wall was acquired. ECS was preprocessed by wavelet filter. The sophisticated technique developed by our laboratory was used to analyze the digital characteristics of HPS. The system could be used to assess fetal and pregnant woman's autonomic nervous system function, furthermore, sympathetic and parasympathetic nervous function could be evaluated respectively and quantificationally. The system also could be used to prognosticate fetal distress. The digital characteristics of fetal and other age groups' HPS, which vary with age, suggest the physiological process of development, mature and senility of autonomic nervous system; based on it, we could find the way of anti-senility. Some digital parameters of fetal HPS stand between those of newborn and adult, which may imply that fetal autonomic nervous regulation is influenced by mother's nerve and endocrine system.