Abstract:
OBJECTIVE:To clarify the role of sexual related Y (SRY) gene detection in the diagnosis of gonadal dysgenesis. METHODS:Sixteen cases of gonadal dysgenesis were included in this study: 5 with androgen insensitivity syndrome, 1 with 17-alpha-hydroxylase deficiency, 4 with true hermaphrodite, 2 with 45, X/46, XY gonadal dysgenesis, 1 with 45, X gonadal dysgenesis, 1 with XY pure gonadal dysgenesis, 1 with testicular regression, and 1 XY female who gave birth to a normal baby. SRY gene was detected by using polymerase chain reaction (PCR) in blood and gonad samples and by direct sequencing of the SRY motif. RESULTS:Among the 16 cases, 15 were blood SRY positive, among which 13 (86.7%) showed the presence of testicular tissue, and 2 showed ovaries without testicular tissue. One SRY negative case showed the presence of testicular tissue. In 3 cases, SRY detection in gonadal tissue correlated with pathological findings but not with blood karyotype. The correlation between peripheral blood SRY and the pathology of the gonads was 81.25% and the correlation between the presence of peripheral blood Y chromosome and pathology of the gonads was 68.75%. Sequencing of the SRY motif in an XY female who gave birth to a normal baby showed no mutation. CONCLUSIONS:SRY detection is more sensitive and specific than blood karyotype in the prediction of the presence of testicular tissue. Peripheral blood karyotype does not necessarily reflect gonadal type. There may be testicular related factors other than the SRY gene.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Yu Q,Huang S,Ye L,Feng L,He F,Ye J,Gu C,Ge Qkeywords:
subject
Has Abstractpub_date
2001-02-01 00:00:00pages
128-31issue
2eissn
0366-6999issn
2542-5641journal_volume
114pub_type
杂志文章abstract:OBJECTIVES:To study the status of cochlear mitochondrial DNA (mtDNA) and to determine the location of mtDNA deletion in aged mice. METHODS:We detected cochlear mtDNA in 2, 7 - 10 and 17 - 19 month old mice by nested polymerase chain reaction (PCR) and DNA sequencing. RESULTS:mtDNA3867bp deletions were found in the co...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-09-01 00:00:00
abstract:OBJECTIVE:To study the relationship between cartilage end-plate calcification and intervertebral disc degeneration. METHODS:An experimental model of cervical disc degeneration in rabbits was established by resection of the cervical supraspinous and interspinous ligaments and detachment of the posterior paravertebral m...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2001-03-01 00:00:00
abstract:BACKGROUND:Aquaporin-1 (AQP1) has involved in fluid transport in diverse pulmonary edema diseases. Our study aimed to explore the dynamic changes of AQP1 in pulmonary water metabolism in rats following traumatic brain injury (TBI) and the protective effect provided by shenmai injection. METHODS:Sixty male Sprague Dawl...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to ev...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.186638
更新日期:2016-08-05 00:00:00
abstract:BACKGROUND:Although a variety of risk factors of pneumonia after clipping or coiling of the aneurysm (post-operative pneumonia [POP]) in patients with aneurysmal subarachnoid hemorrhage (aSAH) have been studied, the predictive model of POP after aSAH has still not been well established. Thus, the aim of this study was ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.1097/CM9.0000000000001304
更新日期:2020-12-24 00:00:00
abstract:BACKGROUND:Morphologic imaging after radiofrequency ablation (RFA) of liver metastases is hampered by an inflammatory response in the ablation margin, making the identification of local tumor progression (LTP) difficult. The aim of this study was to evaluate the efficacy of early (18)F-FDG PET/CT scanning to monitor th...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-07-01 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 understand whether very low density lipoprotein (VLDL) and oxidatively modified very low density lipoprotein (OX-VLDL) can stimulate vascular smooth muscle cells (SMCs) to express high level of monocyte chemotactic protein (MCP-1) mRNA. METHODS:LDL and VLDL were isolated from normal blood donors by densit...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1996-03-01 00:00:00
abstract:BACKGROUND:Genetic factors contribute to the development of coronary artery disease (CAD). Recently, a missense mutation in the low density lipoprotein receptor related protein 6 (LRP6) gene, encoding low density lipoprotein receptor related protein 6, has been implicated in an autosomal dominant form of early-onset CA...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-02-01 00:00:00
abstract::Two thousand patients aged 15 years and below, who underwent surgical treatment for intracranial tumors in Beijing Tiantan Hospital from 1955 to 1989, were studied. All of the tumors in this series have been verified by operative findings and histological studies. This series accounts for 15.1% of all cases of intracr...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1992-06-01 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::Psoralen (PSO) was found cytotoxic against in vitro cultured human mucoepidermoid carcinoma cells of MEC-1 cell line. Its IC50 value was 8.6 micrograms/ml, and relative antitumor activity (RAA) 15. PSO suppressed DNA synthesis, damaged microvilli and cell membrane, and induced degeneration of mitochondria. It inhibite...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1992-11-01 00:00:00
abstract:BACKGROUND:Vascular endothelial growth factor (VEGF) is well known as a hypoxia-induced protein. That it markedly increased expression of VEGF and improvement of rat motor function after spinal cord injury suggested that VEGF could play a neuroprotective role in ischaemic tolerance. This study investigated whether vasc...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2005-10-05 00:00:00
abstract::The effect of exercise on pulmonary gas exchange, arterial oxygenation, oxygen transport and delivery, and hemodynamics are studied in 100 patients with chronic obstructive pulmonary diseases. According to the change of PaO2 or PaCO2 induced by exercise, patients were divided into two groups. Group A (n = 52) had sign...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND:The Xpert MTB/RIF showed high sensitivity and specificity in previous studies carried out in different epidemiological and geographical settings and patient populations in high-burden tuberculosis (TB) countries. However, there were little data obtained by validation or demonstration study of the assay in Ch...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To discuss the etiology, diagnostic criteria and treatment of Nelson's syndrome. METHODS:Twenty-three patients with Nelson's syndrome who were treated in our department over the last 19 years were analyzed retrospectively. Removal of adenoma by the transsphenoidal approach was done in 21 patients and by tran...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-08-01 00:00:00
abstract::1 141 serum samples from various population groups in north China were examined for C100-3Ab by ELISA. Antibody to C100-3 antigen derived from HCV genome (C100-3A) and HBsAg were measured in 438 normal population in Beijing. The C100-3Ab positive rate was 2.1% and the HBsAg positive rate was 2.5%. There is increased o...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1992-03-01 00:00:00
abstract:BACKGROUND:Ahmed Glaucoma Valve implantation (AGVI) is used to treat refractory glaucoma. Breakdown of the blood-aqueous barrier (BAB) has been noted after some surgical techniques. The current study was designed to assess BAB disruption after AGVI. METHODS:Anterior chamber protein content was measured by the laser fl...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:The baseline characteristics of patients in a multinational trial are possibly related to cardiovascular outcome. This study compared the baseline characteristics of patients recruited in China with those recruited in other countries. METHODS:A total of 508 Chinese hypertensive men and 728 women over the ag...
journal_title:Chinese medical journal
pub_type: 杂志文章,多中心研究,随机对照试验
doi:
更新日期:2008-08-20 00:00:00
abstract:Background:The outcome of pediatric deceased donor liver transplantation (LT) has not been well studied, especially pediatric deceased donor livers used in adult transplantation. This study aimed to evaluate the efficacy of LT using pediatric deceased donor livers and compare the outcomes between pediatric-to-pediatric...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.4103/0366-6999.226901
更新日期:2018-03-20 00:00:00
abstract:BACKGROUND:Recently, conservative surgery is acceptable in young patients with borderline ovarian tumor and ovarian cancer. The preservation of these patients' future fertility has been the focus of recent interest. This study aimed to observe the effect of gonadotropin-releasing hormone agonists (GnRHa) cotreatment du...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND:Matrix metalloproteinase (MMP)-2 plays an important role in the remodeling of left ventricles (LVs) and right ventricles (RVs). We investigated the differences of MMP-2 expression between LV and RV in response to nandrolone decanoate (ND), swimming training (ST), and combined ND and ST (NS) in mice, based on...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.222330
更新日期:2018-01-20 00:00:00
abstract:OBJECTIVE:The management strategies after acute myocardial infarction (AMI) have been evolving from simple supportive treatment to various protocols of thrombolytic therapies, and then to mechanical revascularization by balloon angioplasty in recent years. However, controversies still exist between which is the best tr...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:
更新日期:1997-06-01 00:00:00
abstract:OBJECTIVE:To study the clinicopathologic features and immunoprofile of angiomyofibroblastoma (AMF) with emphasis on differential diagnosis. METHODS:Seven vulvar, two vaginal and one perineal angiomyofibroblastomas were evaluated by light microscopy and immunohistochemistry. The immunohistochemical studies were perform...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2000-11-01 00:00:00
abstract:OBJECTIVE:This review focuses on the role of the large conductance calcium-activated potassium (BKCa) channels in diabetic vascular complications. DATA SOURCES:Relevant articles published in English or Chinese from 1981 to present were selected from PubMed. The search terms were "BKCa channels" and "diabetes". Importa...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Natural disasters have been frequent in recent years. Effective treatment of patients with cardiovascular disease following natural disasters is an unsolved problem. We aimed to develop a novel miniature mobile cardiac catheterization laboratory (Mini Mobile Cath Lab) to provide emergency interventional serv...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-03-01 00:00:00
abstract::This review summarizes recent evidences regarding the potential influences of epidural labor analgesia (ELA) on the outcomes of neonates and children. Terms and relevant words including "ELA," "ELA and neonatal outcomes," "ELA and children's development," and "ELA and children's neurocognitive development" were used t...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.1097/CM9.0000000000000900
更新日期:2020-10-05 00:00:00
abstract:OBJECTIVE:To observe the characteristics of coronary microvascular lesions (CML) in the autopsied elderly cases with hypertensive left ventricular hypertrophy (LVH) and the difference of CML among the groups of essential hypertension (EHT), coronary heart disease (CHD) and diabetes (NIDDM) also with LVH. METHODS:A ret...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND:As an X-linked recessive way, arginine vasopressin receptor 2 (AVPR2) gene mutation resulted in a hereditary disease - congenital nephrogenic diabetes insipidus (CNDI). We found a suspect clinical CNDI pedigree. In order to identify the genetic etiology, we performed the genetic analysis. METHODS:The clinic...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Under conventional cytogenetic (CC) analysis, only 30% - 50% of B cell chronic lymphocytic leukemia (B-CLL) cases show clonal aberrations. Using fluorescence in situ hybridization (FISH), the percentage of patients with abnormalities rises to almost 80%, among them, the most frequent abnormalities were 13q14...
journal_title:Chinese medical journal
pub_type: 杂志文章,多中心研究
doi:
更新日期:2011-08-01 00:00:00