Abstract:
BACKGROUND:Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy. METHODS:Three families with corneal dystrophy were analysed. Thirteen individuals at risk for corneal dystrophy in family A, the proband and her son in family B, and the proband in family C were examined after their blood samples were obtained. Mutation screening of human transforming growth factor beta-induced gene (BIGH3 gene) was performed. RESULTS:Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. However, both probands in families B and C, also diagnosed with granular corneal dystrophy, harboured the BIGH3 mutation R124H. CONCLUSION:Molecular genetic analysis can improve accurate diagnosis of corneal dystrophy.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Li Y,Sun XG,Ren HY,Dong B,Wang ZQ,Sun XYkeywords:
subject
Has Abstractpub_date
2004-09-01 00:00:00pages
1418-21issue
9eissn
0366-6999issn
2542-5641journal_volume
117pub_type
杂志文章abstract:BACKGROUND:While combined oral contraceptives (COCs) are commonly used to treat polycystic ovary syndrome (PCOS), comparative data regarding metabolic effects of different progestogens on this patient population are missing. This study aimed to compare the different effects of drospirenone (DRP)-containing COCs with cy...
journal_title:Chinese medical journal
pub_type: 杂志文章,随机对照试验
doi:10.4103/0366-6999.179783
更新日期:2016-04-20 00:00:00
abstract:BACKGROUND:Many studies suggest that the gamma irradiation decreases allograft strength in a dose-dependent manner. However, no study has demonstrated that this decrease in strength translates into higher failure rate in meniscal allograft transplantation (MAT). The aim of this study was to investigate the effects of g...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.156784
更新日期:2015-05-20 00:00:00
abstract::A series of 146 women taking compound quinestrol (CQ) was tested for glucose tolerance and insulin release to determine the effects of CQ on these parameters. 23 normal subjects (6 male and 17 female) and 12 diabetics (7 male and 5 female) were also tested and their results were compared with those from the CQ-taking...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1980-09-01 00:00:00
abstract:BACKGROUND:Previous studies demonstrated that vagus nerve stimulation (VNS) is an effective therapy for drug-resistant epilepsy. Acupuncture is also used to treat epilepsy. This study was designed to examine the safety and effectiveness of transcutaneous auricular vagus nerve stimulation (ta-VNS) for patients with drug...
journal_title:Chinese medical journal
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2014-01-01 00:00:00
abstract::Three cases with disseminated Penicilliosis marneffei (PSM) are reported. They are all natives of Guangxi Zhuang Autonomous Region. Among them, 2 died and 1 remains alive. Their clinical features were characterized by multiple organ involvement, multiple subcutaneous abscesses, inflammatory papules, nodules and pustul...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1991-03-01 00:00:00
abstract:BACKGROUND:The prognostic values of the coronary computed tomography angiography (CCTA) score for predicting future cardiovascular events have been previously demonstrated in numerous studies. However, few studies have used the rich information available from CCTA to detect functionally significant coronary lesions. We...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.194636
更新日期:2016-12-05 00:00:00
abstract:BACKGROUND:The interaction between activated microglia and T lymphocytes can yield abundant pro-inflammatory cytokines. Our previous study proved that thymus immune tolerance could alleviate the inflammatory response. This study aimed to investigate whether intrathymic injection of myelin basic protein (MBP) in mice co...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.178955
更新日期:2016-04-05 00:00:00
abstract:BACKGROUND:Estrogen receptor (ER)-negative breast cancer cells are more aggressive than ER-positive cells. Elevated levels of cyclooxygenase-2 (COX-2) and vascular endothelial growth factor-C (VEGF-C) expression have been detected in cultured human breast cancer cells and are associated with negative hormone receptor s...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-08-05 00:00:00
abstract:OBJECTIVE:To explore the involvement of calcium in the mechanism of hypoxic/hypoglycemic insults and nerve growth factor (NGF) protection. METHODS:Neuron viability and lactate dehydrogenase (LDH) efflux in the bathing medium in cerebral cortex cultures from fetal rats were measured. Calcium fluorescent indicator Fura-...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1998-11-01 00:00:00
abstract::The model was established in male rabbits with experimental atherosclerosis, which was induced by diet cholesterol (0.5 g per day for 8 weeks), by means of intravenous injection of one unit of pituitrin (P.P.). To evaluate the effects of aspirin, heparin and viper venom (VV) on this model, 26 male rabbits were divided...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1995-05-01 00:00:00
abstract:BACKGROUND:Menopausal symptoms and sleep difficulty were physiological processes that were affected by genetic and other factors. This study was to investigate the prevalence of menopausal symptoms and sleep quality in menopausal transition (MT) and postmenopause (PM) women in Taiyuan, Shanxi. METHODS:A community-base...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.178961
更新日期:2016-04-05 00:00:00
abstract:BACKGROUND:Ovarian serous adenocarcinoma can be divided into low- and high-grade tumors, which exhibit substantial differences in pathogenesis, clinicopathology, and prognosis. This study aimed to investigate the differences in the PH domain leucine-rich repeat protein phosphatase (PHLPP), forkhead homeobox type O 3a (...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.198932
更新日期:2017-02-05 00:00:00
abstract:BACKGROUND:To date, there have been no reports on altered nitric oxide (NO) content in ischemia/reperfusion with regard to in vivo preconditioning procedures. These studies are important for understanding the mechanisms of NO during early myocardial ischemic preconditioning. The aim of the present study was to investig...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-07-05 00:00:00
abstract:BACKGROUND:Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic featur...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.177996
更新日期:2016-03-20 00:00:00
abstract::Total or near-total fertilization failure after intracytoplasmic sperm injection (ICSI) is a rare event, but it occurs repeatedly because of sperm defects in activating oocyte. The case presents a successful pregnancy and live birth after calcium ionophore A23187 (A23187) activation on one-day-old unfertilized oocytes...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-02-01 00:00:00
abstract::With monoclonal antibodies serum immunoglobulin G(IgG) subclasses were measured in seventy children aged 2 to 13 years with recurrent respiratory tract infections including upper respiratory tract infections, otitis media, sinusitis, asthmatic bronchitis and pneumonia. 211 healthy, aged-matched children served as cont...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1991-02-01 00:00:00
abstract:BACKGROUND:Imaging-guided thermal ablation using different energy sources continues to gain favor as a minimally invasive technique for the treatment of primary and metastatic hepatic malignant tumors. This study aimed to evaluate the performance of microwave ablation with 2450-MHz internally cooled-shaft antenna in ex...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-10-01 00:00:00
abstract:OBJECTIVE:To investigate the expression of Toll-like receptor 2 (TLR2) and Toll-like receptor 4 (TLR4) and the effect of lipopolysaccharide (LPS) on their expression in cultured endothelial cells. METHODS:Total RNA was extracted from ECV304 cells and isolated human umbilical vein endothelial cells (HUVECs) exposed to ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-02-01 00:00:00
abstract:BACKGROUND:Although previous reports had reported the use of temporary internal distraction as an aid to correct severe scoliosis, two-stage surgery strategy (less invasive internal distraction followed by posterior correction and instrumentation) has never been reported in the treatment of patients with severe spinal ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Successful antiretroviral therapy (ART) has been demonstrated to be effective in reducing the infectivity of human immunodeficiency virus (HIV). We conducted a study to predict the potential effect of ART on the spread of HIV in Chaoyang District, Beijing, China, using the Asian Epidemic Model (AEM). METHOD...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.196571
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Double plate osteosynthesis is the standard treatment for intra-articular fractures of the distal humerus. However, there is still controversy concerning dual plate positions in terms of providing optimal stability. The purpose of this retrospective study was to compare the clinical outcomes in patients with...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND:Blood glucose control is closely related to type 2 diabetes mellitus (T2DM) prognosis. This multicenter study aimed to investigate blood glucose control among patients with insulin-treated T2DM in North China and explore the application value of combining an elastic network (EN) with a machine-learning algor...
journal_title:Chinese medical journal
pub_type: 杂志文章,多中心研究
doi:10.1097/CM9.0000000000000585
更新日期:2020-01-05 00:00:00
abstract:OBJECTIVE:To investigate the expressions of hypothalamic arginine vasopressin (AVP) mRNA, renal AVP V2 receptor mRNA, and AVP-dependent aquaporin-2 (AQP2) mRNA in rats with adriamycin-induced nephrotic syndrome. Effects of Chinese herb Astragalus membranaceus (AM) were also tested. METHODS:Sprague-Dawley rats with fou...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1999-12-01 00:00:00
abstract:BACKGROUND:Copernicus optical coherence tomography (SOCT) is a new, ultra high-speed and high-resolution instrument available for clinical evaluation of optic nerve. The purpose of the study was to compare the agreements between SOCT and Heidelberg retinal tomography (HRT). METHODS:A total of 44 healthy normal volunte...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVE:This review aimed to summarize the relationship between intestinal microbiota metabolism and cardiovascular disease (CVD) and to propose a novel CVD therapeutic target. DATA SOURCES:This study was based on data obtained from PubMed and EMBASE up to June 30, 2015. Articles were selected using the following se...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.4103/0366-6999.167362
更新日期:2015-10-20 00:00:00
abstract:BACKGROUND:MicroRNAs (miRNAs) are small noncoding regulatory RNAs whose aberrant expression may be observed in many malignancies. However, few data are yet available on human primary medulloblastomas. This work aimed to identify that whether miRNAs would be aberrantly expressed in tumor tissues compared with non-tumoro...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2009-10-20 00:00:00
abstract:OBJECTIVE:To investigate CTLA4-Ig's potential role in therapy for allergic asthma by blocking B7/CD28 interactions with cytotoxic T lymphocyte antigen 4-Ig (CTLA4-Ig). METHODS:We divided BALB/C mice into the three groups: Sham/Sham (control), ovalbumin (OVA)/OVA and mCTLA4-Ig. Blood, bronchoalveolar lavage, histology ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:Infertility is a major medical and social problem, and elementary research on the spermatozoal proteins and their functions are relatively scarce and there are very few confirmed and effective options for the treatment of male infertility. Thus, it is essential to find candidate proteins that affect male inf...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:It has been long suggested that abnormal clinical factors in the body, such as dyslipidemia and diabetes, can affect the presence of atherosclerosis. However, few studies on the effect of factors within the normal range, such as the loss of renal function with age, on the prevalence of atherosclerosis are fe...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-08-01 00:00:00
abstract:BACKGROUND:Laparoendoscopic single-site surgery radical prostatectomy (LESS-RP) is a challenging urological procedure and needs to be further evaluated. This study was undertaken to illustrate the safety and initial results of pure LESS-RP with conventional available instruments. METHODS:A prospective clinical databas...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-11-01 00:00:00