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Objective@#To analyze the phenotype and F5 gene variant in a pedigree affected with hereditary coagulation factor Ⅴ (FⅤ) deficiency.@*Methods@#All of the exons, flanking sequences, and 5′ and 3′ untranslated regions of the F5 gene were subjected to PCR and direct sequencing. Suspected variant sites were confirmed by clone sequencing. Influence of the variants was predicted by using software including ClustalX and Mutation Taster.@*Results@#The prothrombin time (PT) and activated partial thromboplastin time (APTT) of the proband were prolonged to 20.3 s and 59.2 s, respectively, while FⅤ activity (FⅤ∶C) and FⅤ antigen (FⅤ∶Ag) were reduced by 13% and 17%, respectively. The FⅤ∶C and FⅤ∶Ag of his father, sister and daughter were decreased to 35%, 37%, 29% and 42%, 46%, 35%, respectively. The proband was found to carry a heterozygous c. 2851delT variant in exon 13 of the F5 gene, which caused a frameshift and resulted in a truncated protein (p.Ser923LeufsX8). In addition, a heterozygous c. 1538G>A (p.Arg485Lys) variant was found in exon 10. The father, sister and daughter of the proband all carried the p. Ser923LeufsX8 variant, while his mother and son carried the heterozygous p. Arg485Lys polymorphism. His younger brother and wife were of the wild type. Bioinformatic analysis showed that p. Ser923 was highly conserved across various species. Mutation Taster scored 1.00 for the p. Ser923LeufsX8 variant, and the result has predicted a corresponding disease.@*Conclusion@#A heterozygous deletional mutation c. 2851delT in exon 13 of the F5 gene and a heterozygous c. 1538G>A polymorphism harbored by the proband may be associated with the decreased FⅤ level in this pedigree.
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OBJECTIVE@#To analyze the phenotype and F5 gene variant in a pedigree affected with hereditary coagulation factor V (FV) deficiency.@*METHODS@#All of the exons, flanking sequences, and 5' and 3' untranslated regions of the F5 gene were subjected to PCR and direct sequencing. Suspected variant sites were confirmed by clone sequencing. Influence of the variants was predicted by using software including ClustalX and Mutation Taster.@*RESULTS@#The prothrombin time (PT) and activated partial thromboplastin time (APTT) of the proband were prolonged to 20.3 s and 59.2 s, respectively, while FV activity (FV:C) and FV antigen (FV:Ag) were reduced by 13% and 17%, respectively. The FV:C and FV:Ag of his father, sister and daughter were decreased to 35%, 37%, 29% and 42%, 46%, 35%, respectively. The proband was found to carry a heterozygous c.2851delT variant in exon 13 of the F5 gene, which caused a frameshift and resulted in a truncated protein (p.Ser923LeufsX8). In addition, a heterozygous c.1538G to A (p.Arg485Lys) variant was found in exon 10. The father, sister and daughter of the proband all carried the p.Ser923LeufsX8 variant, while his mother and son carried the heterozygous p.Arg485Lys polymorphism. His younger brother and wife were of the wild type. Bioinformatic analysis showed that p.Ser923 was highly conserved across various species. Mutation Taster scored 1.00 for the p.Ser923LeufsX8 variant, and the result has predicted a corresponding disease.@*CONCLUSION@#A heterozygous deletional mutation c.2851delT in exon 13 of the F5 gene and a heterozygous c.1538G to A polymorphism harbored by the proband may be associated with the decreased FV level in this pedigree.
Subject(s)
Female , Humans , Male , Factor V , Genetics , Factor V Deficiency , Genetics , Gene Deletion , Genetic Testing , Heterozygote , Mutation , Pedigree , PhenotypeABSTRACT
Objective: To investigate the detection rates and inlfuencing factors of atrial septal defect (ASD) and ventricular septal defect (VSD) among neonates in two cities of East China and to provide scientiifc basis for the prevention, diagnosis, treatment and monitor of ASD and VSD. Methods: 2100 newborns with gestational age of at least 28 weeks were recruited consecutively from each city between 2013-09 and 2014-11. Data related to ASD and VSD were collected by questionnaires and echocardiographic screening was conducted within 7 days after birth. Results: A total of 4152 neonateswere examined with gestational age of (39.03 ± 1.29) weeks, among whom 2189 were male infants (52.72%), and age of mother was (26.32 ± 4.10) years old. Detection rates of ASD and VSD were 60.5‰ and 12.8‰ respectively, showing no significant difference between genders (P>0.05). Multivariate logistic regression analysis showed that maternal pre-pregnancy BMI and home decoration were the inlfuencing factors of ASD and maternal drug use in early pregnancy was the inlfuencing factor of VSD among newborns. Conclusions: Detection rates of ASD and VSD among neonates were relatively high in two cities of East China. Early screening is importtant to reduce the incidence of ASD and VSD and improve the prognosis.
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Objective To analyze the electrocardiogram and treadmill exercise performance in patients with coronary artery myocardial bridge.Methods 176 patients with myocardial bridging diagnosed by coronary angiography were selected in the study.The performance of myocardial bridge electrocardiogram and treadmill exercise of different depth and stenosis was observed.Results Deep in myocardial bridge ischemic ST segment and T wave changes were significantly higher than superficial type (x2 =11.02,P ＜ 0.01).Systolic myocardial bridge Ⅲ grade stenosis of ischemic ST segment and T wave changes were significantly higher than grade Ⅰ and grade Ⅱ (x2 =12.78,P ＜0.01;x2 =24.45,P ＜ 0.01).The positive rate of myocardial bridge deep in the treadmill exercise test was significantly higher than the superficial type.Myocardial bridge Ⅲ grade systolic stenosis,treadmill exercise test positive rate was significantly higher than grade Ⅰ and grade Ⅱ (x2 =9.23,P ＜ 0.05;x2 =6.76,P ＜ 0.01).Conclusion Patients with myocardial bridge have various changes in the electrocardiogram and treadmill exercise,changes in deep in the type and degree of stenosis Ⅲ grade systolic are obvious.
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OBJECTIVE: The sole effective measure for cataract is replaced the epinephelos lens with intraocular lens. So, in this paper, we summarize the research process of intraocular lens, which can provide a reference for further study. METHODS: Medline, China Journal Net, Wanfang Data, SpringerLink, and ScienceDirect database were computer retrieved from 1997 to 2009. RESULTS: A total of 25 papers were included. All the papers were explained intraocular lens from the aspect of current situation, complication following implantation, and develop tendency. According to hardness, intraocular lens can be divided into hard intraocular lens and soft intraocular lens. Acrylic intraocular lenses showed better biocompatibility than the silicone intraocular lenses. In addition, the common complication following implantation was dislocation of lens. Therefore, the trend of further research was injection type intraocular lens. CONCLUSION: The results demonstrated that as a foreign body, the body would react to the implanted intraocular lens, which is a normal reaction. Therefore, it is necessary to consider the biocompatibility, postoperative visual function recovery, regulatory ability, as well as photoprotection in the design of intraocular lens.
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BACKGROUND: The investigation of culturing, passaging and establishing human limbal stem cells can strengthen the recognition of the stem cells and provide the enough cellular reserve for the basic and clinical research of limbal stem cell transplantation.OBJECTIVE: To explore a method of pessaging and establishing cell line of human limbal stem cells cultured in vitro.DESIGN: Randomized controlled observation.SETTING: Gannan Medical College.MATERIALS: The experiment was performed at Scientific Center of Gannan Medical College and the National Key Laboratory of Ophthalmology Hospital Affiliated to Sun Yat-Sen University from June 2003 to April 2004. Fresh human limbus corneae were isolated from two healthy donors. Procedures were performed according to the informed consent of the donors. Main reagents contained RPMI-1640 (Sigma R8755, containing L-glutamine) and 200 g/L fetal calf serum (FCS) (Gibco 16140-071). DMEM medium, chondroitin sulfatase and human epidermal growth factor (hEGF) were purchased from Sigma Co. USA; HEPES and DMSO were bought from Gibco, USA; 100% glycerinum was purchased from Yunjia Huangpu Pharmaceutical Product Limited Company, PRC; glutaraldehyde was bought from E.Merk, Germany; Alcohol, chlorhydric acid, acetone and methyl aldehyde were purchased from Beijing Chemical Agent Company, PRC; 0.25% parenzyme was bought from Shanghai Xinhua Pharmaceutical Factory, PRC.Above-mentioned reagents were analytical pure grade.METHODS: After digestion, human limbal tissues in limbal basilar part with an abundant pigment were cultured in the culture flask containing RPMI-1640 and 200 g/L FCS and in culture dish containing amniotic extracellular matrix (AECM) as the cultural supporter. Primary and passage cells were observed under light microscope and scanning electron microscope (SEM). The revival ratio of stem cell refrigeration of every generation was calculated by the trypanblau exclusion experiment.MAIN OUTCOME MEASURES: ① Observational results of limbal stem cells during the primary culture and serial subcultivation in vitro, and ② revival ratio of stem cell refrigeration.RESULTS: ①Findings of primary culture: Most limbal stem cells in the culture flask had the adherence and were arrayed uniformly sparsely to form monolayer and adhered to the bottom of culture flask under the inverted phase contrast microscope after 1-day culture. ② Findings of serial subcultivation: After human epidermal growth factor (hEGF) was added into the second passage, cells were scattered into the monolayer and adhered to grow quickly.Morphological variability of all the cells increased obviously when passage the 30th generation. The cellular volume was obviously increasing, and the round or irregular round cells gathered together. The 33rd generation human limbal stem cells still could vigorously differentiate, proliferate and grow in ACEM. ③ The revival ratio of stem cell refrigeration was 82.2%.CONCLUSION: The human limbal stem cell lines were preliminarily established by culturing and freezing the cells of 33 generations in vitro. The human limbal stem cell lines preferred to grow in the culture dish containing AECM as the cultural supporter.
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AIM: To investigate the interference of valsartan on blood pressure and plasma angiotensin Ⅱ (ang Ⅱ), aldosterone (ALD) in salt sensitive essential hypertensive patients. METHODS: Eighty-four adult hypertensive patients were enrolled in study, and the salt sensitivity was determined by acute intravenous salt water loading according to Sullvan's criteria. The change of blood pressure and plasma ang Ⅱ, and ALD were compared before and after the treatment. RESULTS: At the end of 2, 4, 6, and 8 weeks, patients with salt sensitive essential hypertensive (group ss) and no salt sensitive essential hypertensive (group nss) were measured. The results showed that sitting systolic blood pressure (SiSBP) was decreased by 17.5 ? 4.3 and 11.0 ? 1.4 mmHg, and sitting diastolis blood pressure (SiDSP) was decreased by 17.0 ? 3.7 and 7.3 ? 1.1 mmHg after the treatment. It was found that patients showed significantly higher plasma ang Ⅱ and lower plasma ALD in group ss and group nss. CONCLUSION: Valsartan can significantly control SiSBP and SiDBP for both groups, interfered plasma angiotensin Ⅱ and I aldosterone, and be more effective for patients with salt sensitive essential hypertensive.