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<p><b>OBJECTIVE</b>To investigate the disease-causing mutation in a Chinese family affected with Usher syndrome type II.</p><p><b>METHODS</b>All of the 11 members from the family underwent comprehensive ophthalmologic examination and hearing test, and their genomic DNA were isolated from venous leukocytes. PCR and direct sequencing of USH2A gene were performed for the proband. Wild type and mutant type minigene vectors containing exon 42, intron 42 and exon 43 of the USH2A gene were constructed and transfected into Hela cells by lipofectamine reagent. Reverse transcription (RT)-PCR was carried out to verify the splicing of the minigenes.</p><p><b>RESULTS</b>Pedigree analysis and clinical diagnosis indicated that the patients have suffered from autosomal recessive Usher syndrome type II. DNA sequencing has detected a homozygous c.8559-2A>G mutation of the USH2A gene in the proband, which has co-segregated with the disease in the family. The mutation has affected a conserved splice site in intron 42, which has led to inactivation of the splice site. Minigene experiment has confirmed the retaining of intron 42 in mature mRNA.</p><p><b>CONCLUSION</b>The c.8559-2A>G mutation in the USH2A gene probably underlies the Usher syndrome type II in this family. The splice site mutation has resulted in abnormal splicing of USH2A pre-mRNA.</p>
Subject(s)
Adolescent , Adult , Aged , Child , Female , Humans , Male , Middle Aged , Young Adult , Asian People , Genetics , Base Sequence , China , Extracellular Matrix Proteins , Genetics , Metabolism , Molecular Sequence Data , Pedigree , Usher Syndromes , Genetics , MetabolismABSTRACT
Objective To analyze the imageological characteristics of intracranial vascular multiple stenosis aneurysms and to e-valuate the influence of cerebral vascular stenosis caused hemodynamic change on the aneurysm occurrence .Methods The clinical data of 30 inpatients with intracranial arterial multiple stenosis aneurysms diagnosed by CTA and DSA ,who were hospitalized due to ischemic cerebrovascular disease in the neurology department of 251 Hospital of Beijing Military Region from January 2007 to May 2012 ,were retrospectively analyzed and taken as the observation group ;contemporaneous 30 cases of aneurysm without in-tracranial and extracranial arterial stenosis admitted to the neurosurgery department were taken as the control group .The gender , age of onset ,number of aneurysms ,whether or not complicating hypertension ,diabetes ,smoking ,hyperlipemia ,plaque of extracrani-al carotid artery ,ischemic stroke and cerebral arterial abnormal development were compared between the two groups .The Logistic single factor and multi-factor correlation analysis was adopted to evaluate the correlation between the aneurysm occurrence with the hemodynamic changes caused by atherosclerotic stenosis .Results Cystic multiple aneurysms were common in the observation group ,which was up to 4 in number ,the age was more than 60 years ,the majority was complicated by hypertension ,diabetes ,hyper-lipemia ,cerebral stroke ,plaque of extracranial carotid artery and intracranial arterial multiple stenosis were common .Aneurysms mostly occurred in intracranial artery with severe stenosis .The gender differences were unobvious .The control group was domina-ted by young patients .Single aneurysm was more common without intracranial artery multiple stenosis .The occurrence rate of ca-rotid arterial plaque and cerebral stroke was lower .The partial patients had smoking ,hyperlipidemia and hypertension .The Logistic regression analysis between the two groups showed that ischemic stroke ,cerebral arterial development abnormality and atheroscle-rosis plaque of extracranial carotid artery had significant correlation .Conclusion The aneurysm occurrence is related with cerebral arterial atherosclerotic stenosis ,which becomes the important factor leading to aneurysm formation and should arouse attention to conduct early diagnosis and early treatment .
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Even though mutations in LMNA have been reported in patients with typical dilated cardiomyopathy (DCM) and atrioventricular block (AVB) previously, the purpose of this study was to disclose this novel genetic abnormality in one Chinese family with the atypical phenotype of progressive AVB followed by DCM with normal QRS interval. Genome-wide linkage analysis mapped the AVB gene in this family to a marker at chromosome 1q21.2, where the LMNA gene was located. Direct DNA sequence analysis revealed a heterozygous G to A transition at nucleotide 244 in exon 1 of LMNA, which resulted in an E82K mutation. The E82K mutation co-segregated with all affected individuals in the family, and was not present in 200 normal controls. Further clinical evaluation of mutation carriers showed that 5 of 6 AVB patients exhibited mild DCM with a late onset of age in the fourth and fifth decades. Ejection fractions were documented in 5 patients with DCM, but 4 showed a normal value of [Symbol: see text]50%. Echocardiography showed that atrial dilatation occurred earlier than ventricular dilatation in the patients. This study suggests that progressive AVB with normal QRS interval and accompanying DCM at later stages may represent a distinct type of DCM. The molecular mechanism by which the E82K mutation causes AVB as the prominent phenotype in DCM may be a focus of future studies.
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Objective To investigate the effect of hypert riglyceridemia on vascular endothelial function. Methods With high-resolution ultrasound, flow and nitroglycerin-induced dilatation of the brachial artery were determined in thirty hypertriglyceridemic patients and thirty healthy subjects as controls. Serum lipid and plasma endothelin (ET) were determined. Results In patients with hypertriglyceridemia,flow-induced vasodilatation was much reduced compared with that in the control subjects[(2.7±2.0)% vs (15.0±8.0)%, P<0.001］.However, vasodilatation in response to nitroglycerin were similar in both groups［(15.0±5.0)% vs (16.8±9.0)%, P>0.05].Plasma ET level in the hypertriglyceridemic group was significantly higher than that in the control group［(106.22±19.16) μg/L vs (72.37±14.06) μg/L, P<0.001].ConclusionEndothelium-dependent vasodilatation was impaired in patients with hypertriglyceridemia.
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<p><b>OBJECTIVE</b>To investigate the effect of micronized fenofibrate on vascular endothelial function in patients with hypertriglyceridemia.</p><p><b>METHODS</b>Using high-resolution ultrasound, we measured flow- and nitroglycerin-induced dilatation of the brachial artery in 30 patients with hypertriglyceridemia before and after treatment with micronized fenofibrate at a dose of 200 mg once daily for 4 weeks. Simultaneously, both serum lipid and plasma endothelin (ET) levels were determined.</p><p><b>RESULTS</b>After micronized fenofibrate therapy, serum triglyceride (TG) levels decreased significantly (P < 0.05). Plasma ET levels also decreased markedly [(82.66 +/- 15.46) microg/L vs. (106.22 +/- 19.16) microg/L, P < 0.001]. Flow-induced vasodilatation was much improved (11.0% +/- 9.0% vs 2.7% +/- 2.0%, P < 0.01). However, no significant changes in vasodilatation occurred in response to nitroglycerin (16.2% +/- 6.0% vs 15.0% +/- 5.0%, P > 0.05) in patients with hypertriglyceridemia.</p><p><b>CONCLUSIONS</b>Micronized fenofibrate can improve impaired endothelium-dependent vasodilatation in patients with hypertriglyceridemia. Improving endothelial function may also be the mechanism responsible for the beneficial effects of micronized fenofibrate.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Endothelium, Vascular , Physiology , Fenofibrate , Pharmacology , Therapeutic Uses , Hypertriglyceridemia , Drug Therapy , VasodilationABSTRACT
To probe the genetic background and immunopathogenesis of dilated cardiomyopathy (DCM) 77 patients with DCM, HLA-DRB1 gene polymorphism were analyzed by using the polymerase chain reaction/sequence specific primer (PCR/SSP) technique and autoantibody against myocardial mitochondria ADP/ATP carrier were examined by using the Immunoblot analysis. The frequency of HLA-DRB1*0901 allele was significantly higher in DCM patients in which autoantibody against ADP/ATP carrier of myocardial mitochondria is positive in contrast with those in which the autoantibody is negative (25.46% vs 3.45%, P < 0.05), the relative risk (RR) being 9.56. The other frequencies of HLA-DRB1 alleles have no significant difference in the antibody positive group and negative group. It is possible that a subset of DCM patients may exist in which autoimmunity is associated with genetic factors.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Autoantibodies , Allergy and Immunology , Cardiomyopathy, Dilated , Genetics , Allergy and Immunology , HLA-DR Antigens , Genetics , Allergy and Immunology , HLA-DRB1 Chains , Mitochondria, Heart , Allergy and Immunology , Mitochondrial ADP, ATP Translocases , Allergy and ImmunologyABSTRACT
Based on an analysis of the problems in medical ethics education,the author puts forward that different kinds of methods and models should be used in medical ethics education.In this paper,the author introduces some campus culture activities such as social practice,public opinion spread and making comparison,all of which involve medical ethics education.From these activities,the author concludes that campus culture activities which involve medical ethics education should be not only theoretical,typical and professional,but practical,educable and creative.
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This article discusses a nurses professional character, which is an organic combo of kind soul and good appearance, and the good appearance is not only necessary to patients'mentality, but also the requirement from employer. From investigation and analysis, it is found that some nursing students are short of good appearance. In the author's opinion, besides professional morality, specialty theory and operational capability, the medical school should pay attention to the cultivation of students' good appearance in nursing ethnics teaching. Furthermore, by giving the electives courses, such as Nursing Aesthetics, Etipuette, and Art Enjoying, the nursing students can be encouraged to take part in different leagues and campus culture activities. It will enhance the education of nursing students'amenity, and the cultivation of their good appearance.