Abstract:
OBJECTIVES:To analyze the FBN1 mutations in Chinese patients with Marfan syndrome (MFS) and to make a genetic diagnosis based on haplotype linkage analysis for MFS. METHODS:Nine MFS families (17 patients) were analyzed with single strand conformation polymorphism (SSCP) and sequencing. Four primers were designed for the flanking sequences of FBN1 gene and used for haplotype-segregation analysis of MFS(B). RESULTS:SSCP band alteration was detected in the PCR products for exon 25 in MFS(A) II:1. Direct sequencing revealed a small 13 bp deletion; the deleted sequence is gccTc Tgcaccca at bases 3243-3456 of the cDNA in exon 25. This mutation was novel. MFS(B) families were analyzed using the haplotype linkage technique. The data suggested that MFS(B) families were linked to the FBN1 gene. The proband's daughter was an asymptomatic patient. CONCLUSION:The combination of mutation detection and chromosome haplotype analysis can provide better evidence for a genetic diagnosis of MFS.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Wang B,Hu D,Xia J,Li Q,Yang J,Lu Gkeywords:
subject
Has Abstractpub_date
2003-07-01 00:00:00pages
1043-6issue
7eissn
0366-6999issn
2542-5641journal_volume
116pub_type
杂志文章abstract:BACKGROUND:The endovascular treatment of abdominal aortic aneurysm (AAA) has improved greatly in the last 15 years. The present study aimed to evaluate the endografting experience for the treatment of unfavorable abdominal aortic aneurysm (uAAA). METHODS:During December 2001 and December 2007, 41 patients with uAAA we...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2009-04-05 00:00:00
abstract::Human keratinocytes in primary culture stimulated by Ca2+ ionophore A23187(Io) could synthesize and release a material which might aggregate aspirin-treated washed rabbit platelets and was identified as platelet activating factor (PAF) by four methods. Io stimulated the production of PAF by keratinocytes in a time- an...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVE:To explore the mechanism of cisplatin resistance and its reversion in human ovarian cancer. MATERIALS AND METHODS:A cisplatin resistant cell subline of SKOV3, SKOV3/cp, was established, and a xenograft mice model of human ovarian cancer was established by microencapsulation technology. Various biochemical ch...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1996-05-01 00:00:00
abstract:BACKGROUND:Respiratory failure caused by metastatic pulmonary choriocarcinoma usually develops rapidly and is associated with a high mortality. The clinical management strategy is important in choriocarcinoma patients with acute respiratory failure. The objective of this study was to evaluate the clinical characteristi...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:The medium-to-long-term use of antimuscarinics alone or in combination with an α-blocker in men with an enlarged prostate is still controversial. This double-blind, placebo-controlled, randomized clinical trial aimed to investigate the efficacy and safety of medium-to-long-term use of tolterodine extended re...
journal_title:Chinese medical journal
pub_type: 杂志文章,随机对照试验
doi:10.4103/0366-6999.195461
更新日期:2016-12-20 00:00:00
abstract:OBJECTIVE:To study the severe acute respiratory syndrome (SARS)-associated coronavirus genotype and its characteristics. METHODS:A SARS-associated coronavirus isolate named ZJ01 was obtained from throat swab samples taken from a patient in Hangzhou, Zhejing province. The complete genome sequence of ZJ01 consisted of 2...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-09-01 00:00:00
abstract:BACKGROUND:The usefulness of in-phase/opposed-phase imaging and diffusion weighted imaging (DWI) in differentiating benign and neoplastic vertebral fractures has been described. In this study, we aimed to evaluate the influence of the severity of vertebral damage on the diagnostic performance of these two technologies....
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2009-06-05 00:00:00
abstract:BACKGROUND:To avoid the irritation of tendons and soft tissues as well as hardware-related problems, we designed an intramedullary fixation with bioabsorbable rods for the treatment of the metacarpal shaft fractures. METHODS:Five patients with nine shaft fractures of the fourth and fifth metacarpi were treated with in...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.168040
更新日期:2015-11-05 00:00:00
abstract:BACKGROUND:Stenting a bifurcation lesion is technically challenging. No study has reported the clinical outcome of a dedicated bifurcation stent in China. We aimed to analyze the safety and clinical outcome of a novel side branch ostial stent (BIGUARD) stent in treating coronary bifurcation lesions. METHODS:Forty-seve...
journal_title:Chinese medical journal
pub_type: 临床试验,杂志文章
doi:
更新日期:2009-09-20 00:00:00
abstract:BACKGROUND:The rapid transmission and high mortality rate made severe acute respiratory syndrome (SARS) a global threat for which no efficacious therapy is available now. Without sufficient knowledge about the SARS coronavirus (SARS-CoV), it is impossible to define the candidate for the anti-SARS targets. The putative ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2005-05-05 00:00:00
abstract:OBJECTIVE:To investigate the feasibility and features of 3 catheter-mediated approaches of gene transfer into heart, including direct myocardial injection (DMI), coronary artery perfusion (CAP), and intrapericardial cavity injection (ICI). METHODS:Fifteen dogs were used, and 0.3 ml (1 x 10(9) pfu) of an adenovirus (Ad...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-04-01 00:00:00
abstract:BACKGROUND:Congenital heart disease (CHD) is a common heart condition which does considerable harm to the health of children and adolescents. CHD epidemiological characteristics of Tibetan children whose ages ranged from 4 to 18 years were investigated in Qinghai Province. METHODS:A total of 32 578 Tibetan children, l...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-12-20 00:00:00
abstract:BACKGROUND:Intravascular ultrasound (IVUS) examination can provide useful information during endovascular stent graft repair. However, its actual clinical utility in thoracic endovascular aortic repair (TEVAR) for type B aortic dissection (type B-AD) remains unclear, especially in complicated aortic dissection. We eval...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.163386
更新日期:2015-09-05 00:00:00
abstract:OBJECTIVE:To study the effects of skeletal muscle satellite cells implanted into infarcted myocardium on the volume of remnant myocytes. METHODS:Thirty-six adult mongrel canines were divided randomly into implantation group and control group. In the implantation group, skeletal muscle satellite cells taken from the gl...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-07-01 00:00:00
abstract:BACKGROUND:Left ventricular hypertrophy (LVH) and geometric abnormality are associated with morbidity and mortality of cardiovascular disease and stroke. Hypertension is the major cause of LVH. Yet the prevalence and other risk factors of LVH and geometric abnormality in Chinese hypertensive population are unknown. The...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:It has been proved that sevoflurane postconditioning (SpostC) could protect the heart against myocardial ischemia/reperfusion injury, however, there has been few research focused on the electrophysiological effects of SpostC. The objective of the study was to investigate the effects of SpostC on action poten...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:To evaluate the effects of nitric oxide inhibitor on prostacyclin (PGI2) biosynthesis and the role of PGI2 in hyperhemodynamics of portal hypertension. METHODS:Sprague Dawley rats were divided into four groups: intrahepatic portal hypertension (IHPH) by injection of CCl4, prehepatic portal hypertension (PHPH...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1999-06-01 00:00:00
abstract:BACKGROUND:The decreased degradation of extra-cellular matrix proteins plays an important role in the onset of diabetic nephropathy. Matrix metalloproteinase-9 (MMP-9) and tissue inhibitor of metalloproteinase-1 (TIMP-1), which are members of the matrix metalloproteinase family, are associated with this process. Angiot...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2007-11-05 00:00:00
abstract::In this study, we observed the endotoxin induced platelet aggregation, 5-HT and beta-g releases, cellular cAMP decrease, and also the changes of morphology and membrane fluidity of platelet. These changes play an important role in septic shock, especially in disseminated intravascular coagulation (DIC) and respiratory...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1989-11-01 00:00:00
abstract:BACKGROUND:Early neurological deterioration (END) is a prominent issue after recanalization treatment. However, few studies have reported the characteristics of END after endovascular treatment (EVT) as so far. This study investigated the incidence, composition, and outcomes of END after intravenous recombinant tissue ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.222343
更新日期:2018-01-20 00:00:00
abstract:OBJECTIVE:To investigate the feasibility of adrenal sparing surgery for selected renal cell carcinoma (RCC), since the necessity of routine adrenalectomy during radical nephrectomy for RCC has been challenged in recent years. METHODS:178 patients underwent perifascial nephrectomy in a 16-year period. Of these patients...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1998-10-01 00:00:00
abstract:OBJECTIVE:To explore the association of human leukocyte antigen (HLA) with pregnancy induced hypertension (PIH). METHODS:We oligotyped HLA-DQA1, -DQB1 locus of 30 Chinese PIH families and 14 control families in Shanghai area by polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) hybridization method ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1998-02-01 00:00:00
abstract:BACKGROUND:Cerebral ischemia-reperfusion injury is the main reason for the loss of neurons in the ischemic cerebrovascular disease. Therefore, to deeply understand its pathogenesis and find a new target is the key issue to be solved. This research aimed to investigate the neuroprotective effects of salvianolic acid B (...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-12-01 00:00:00
abstract:OBJECTIVE:To determine the effects and toxicity of interstitial brachytherapy using iridium-192 on brain malignant gliomas. METHODS:Between January 1992 and January 1995, 56 patients with anaplastic astrocytoma and glioblastoma multiforme were treated with stereotactic brachytherapy using temporary high-activity iridi...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract:BACKGROUND:Muscle fibers overlying the intramyocardial segment of an epicardial coronary artery are termed myocardial bridging (MB). Variable prevalence of MB has been described at autopsy and angiographic series with small and large sample size studies. In addition, no similar study was reported in Chinese population....
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-03-05 00:00:00
abstract:Background:Signal transducer and activator of transcription 3 (STAT3) was strongly expressed and activated in psoriatic keratinocytes (KCs) and correlated with the severity of psoriasis. The study aimed to investigate the effects of STAT3 small interfering RNA (siRNA) combined with ultrasonic irradiation and SonoVue mi...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.239297
更新日期:2018-09-05 00:00:00
abstract:Background::Localized macular edema and retinal nerve fiber layer (RNFL) thinning have been reported shortly after laser in situ keratomileusis (LASIK) in adults. However, it is still unclear how LASIK affects the retina of children. This study aimed to investigate the macular retina and RNFL thickness in children with...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.213959
更新日期:2017-09-20 00:00:00
abstract:BACKGROUND:Serum expression of cytokines may provide information about the clinical outcome of advanced non-small cell lung cancer (NSCLC) patients. This study aimed to investigate the relationship between serum cytokine levels and the clinical outcome of erlotinib treatment in a second or third line setting in patient...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of L-arginine (L-arg) on early compensatory renal growth (CRG), tubulointerstitial accumulation of extracellular matrix (ECM), long term survival rate and renal scarring in rats with 5/6 nephrectomy (SNx). METHODS:The experiment included four groups of rats (n = 5 each group): (1) S...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-02-01 00:00:00
abstract:Background:The role of postradiation systemic therapy in non-small cell lung cancer (NSCLC) patients with brain metastasis (BM) was controversial. Thus, we explored the role of Radiation Therapy Oncology Group recursive partitioning analysis (RTOG-RPA) and graded prognostic assessment (GPA) in identifying population wh...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.231517
更新日期:2018-05-20 00:00:00