Abstract:
BACKGROUND:Von Hippel-Lindau (VHL) disease is a hereditary tumor disorder caused by mutations or deletions of the VHL gene. Few studies have documented the clinical phenotype and genetic basis of the occurrence of VHL disease in China. This study armed to present clinical and genetic analyses of VHL within a five-generation VHL family from Northwestern China, and summarize the VHL mutations and clinical characteristics of Chinese families with VHL according to previous studies. METHODS:An epidemiological investigation of family members was done to collect the general information. A retrospective study of clinical VHL cases was launched to collect the relative clinical data. Genetic linkage and haplotype analysis were used to make sure the linkage of VHL to disease in this family. The VHL gene screening was performed by directly analyzing DNA sequence output. At last, we summarized the VHL gene mutation in China by the literature review. RESULTS:A five-generation North-western Chinese family afflicted with VHL disease was traced in this research. The family consisted of 38 living family members, of whom nine were affected. The individuals afflicted with VHL exhibited multi-organ tumors that included pheochromocytomas (8), central nervous system hemangioblastomas (3), pancreatic endocrine tumors (2), pancreatic cysts (3), renal cysts (4), and paragangliomas (2). A linkage analysis resulted in a high maximal LOD score of 8.26 (theta = 0.0) for the marker D3S1263, which is in the same chromosome region as VHL. Sequence analysis resulted in the identification of a functional C>T transition mutation (c. 499 C>T, p.R167W) located in exon 3 of the 167 th codon of VHL. All affected individuals shared this mutation, whereas the unaffected family members and an additional 100 unrelated healthy individuals did not. To date, 49 mutations have been associated with this disease in Chinese populations. The most frequent VHL mutations in China are p.S65 W, p.N78 S, p.R161Q and p.R167 W. CONCLUSIONS:The results supported the notion that the genomic sequence that corresponds to the 167 th residue of VHL is a mutational hotspot. Further research is needed to clarify the molecular role of VHL in the development of organ-specific tumors.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Zhang J,Ma J,Du X,Wu D,Ai H,Bai J,Dong S,Yang Q,Qu K,Lyu Y,Valenzuela RK,Liu Cdoi
10.4103/0366-6999.147802subject
Has Abstractpub_date
2015-01-05 00:00:00pages
32-8issue
1eissn
0366-6999issn
2542-5641pii
ChinMedJ_2015_128_1_32_147802journal_volume
128pub_type
杂志文章abstract:OBJECTIVE:To analyze the relationship between the proto-oncogene c-fos change and neuronal degeneration in the hippocampus of the patients with Alzheimer's disease. METHODS:The post mortem human hippocampal tissues were divided into three groups, namely, the aged, the young and Alzheimer's disease (AD) groups. Each gr...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:Optical coherence tomography (OCT) is a high resolution noncontact imaging modality which can quantitatively detect the optic disc and retinal structure. This study was designed to evaluate the diagnostic capability of parameters of the optic disc, retinal nerve fiber layer thickness, and ganglion cell compl...
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 analyse the relationship between age and treatment with captopril after acute myocardial infarction (AMI). METHODS:In a randomized trial, 822 patients with a first AMI received conventional medical treatment, including intravenous thrombolytic therapy and oral aspirin or metoprolol, and then were randomly...
journal_title:Chinese medical journal
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:2001-07-01 00:00:00
abstract:BACKGROUND:In a previous study, we demonstrated that ephrin-A2 and -A3 negatively regulate the growth of neural progenitor cells in the central nervous system. Adult mice deficient in ephrin-A2 and -A3 (A2(-/-)A3(-/-)) displayed active ongoing neurogenesis throughout the brain, and mice deficient in ephrin-A3 alone sho...
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 explore the relationship between apoptosis and spontaneous hypertension, and the effect of angiotensin converting enzyme (ACE) inhibitor on apoptosis. METHODS:Male spontaneously hypertensive rats (SHR) and normotensive control rats (WKY) at different ages were used, meanwhile, the treatment of SHR with ra...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1999-06-01 00:00:00
abstract:OBJECTIVE:To evaluate mice as experimental animals for Chlamydia pneumoniae (C. pneumoniae) infection and investigate the pathogenesis of C. pneumoniae derived pneumonitis. METHODS:Icr mice were inoculated with the C. pneumoniae strain, CWL-029, either intranasally or intravenously. After a single dose inoculation, mi...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:Cornea epithelial cells play early and crucial roles in the initiation of ocular surface responses to pathogens. Participation of toll-like receptor (TLR) 2 and TLR4, which are major forms of fungi receptors, may be involved in Aspergillus fumigatus induced immune responses. The objective of the present stud...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-03-05 00:00:00
abstract:BACKGROUND:Patients with elevated admission glucose levels may be at increased risk of death after myocardial infarction, independent of other baseline risk factors and more severe coronary artery disease. However, data regarding admission glucose and epicardial and microvascular flow after primary angioplasty is limit...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2006-01-20 00:00:00
abstract:BACKGROUND:Patients with temporal lobe epilepsy (TLE) originating from different seizure onset zones had distinct electrophysiological characteristics and surgical outcomes. In this study, we aimed to investigate the relationship between the origin and prognosis of TLE, and the stereoelectroencephalography (SEEG) featu...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.1097/CM9.0000000000001256
更新日期:2020-12-02 00:00:00
abstract:BACKGROUND:The acute abdomen remains a challenge for all obstetricians and physicians who take part in the care of women in pregnancy. To add substantially to our understanding of acute pancreatitis (AP) in pregnancy, in particular affirming the increased risks for mother and fetus associated with AP, we explored featu...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:The Toll-like receptors (TLRs) represent a group of single-pass transmembrane receptors expressed on sentinel cells that are central to innate immune responses.The aim of this study was to investigate the presence of soluble TLRs in pleural effusions, and the diagnostic values of TLRs for pleural effusion wi...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-08-01 00:00:00
abstract:OBJECTIVE:To evaluate the use of oxygen in neonates in the past, present and future. DATA SOURCES:The data are mainly from Pubmed with relevant published articles from the 1940s to the present with some information gathered from web searches. STUDY SELECTION:Studies evaluating the use of oxygen in premature and term ...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:
更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:Our previous studies have shown that both apoptosis and necrosis are involved in hair cell (HC) pathogenesis in aging cochleae. To better understand the biological mechanisms responsible for the regulation of HC death, we examined the activity of succinate dehydrogenase (SDH), a mitochondrial bioenergetic en...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND:A simple, safe and effective therapeutic strategy for traumatic instability of the subaxial cervical spine, as well as its prognostic assessment, is still controversial. METHODS:The therapeutic options for 83 patients of traumatic instability of the subaxial cervical spine, whose average age was 35 years, w...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-08-05 00:00:00
abstract:OBJECTIVE:To study the effect for albendazole therapy for alveolar echinococcus infection in gerbils and mice. METHODS:Mice and gerbils were infected of metacestode tissues by intraperitoneal (i.p.) transplantation and treated with albendazole-medicated feeds. The effects were evaluated by comparison of the treated an...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1998-10-01 00:00:00
abstract:BACKGROUND:Frozen-thawed embryo transfer (FET) is the most common way to prevent serious late ovarian hyperstimulation syndrome and increase the cumulative pregnancy rate. We evaluated the effectiveness of an FET program for improving the embryo implantation and clinical pregnancy rates, and ultimate embryo utilization...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2009-09-05 00:00:00
abstract:OBJECTIVE:To compare the effect of ouabain on the blood pressure of rats with that of digoxin to find the evidences of the relationship between endogenous ouabain (EO) and development of hypertension. METHODS:Sprague-Dawley rats, which were divided into 3 groups, were infused with ouabain (23 x 75 micrograms.kg-1/day,...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1997-12-01 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:BACKGROUND:Endovenous laser ablation (EVLA) is an improved method to treat varicose great saphenous veins (GSV) with a high satisfactory rate. This study aimed to evaluate the efficiency and safety of treatment by EVLA procedures with ultrasound-guided perivenous tumescence. METHODS:Thirty-one patients (31 limbs) with...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND:Recombinant human-erythropoietin (rh-EPO) has therapeutic efficacy for premature infants with brain damage during the active rehabilitation and anti-inflammation. In the present study, we found that the rh-EPO was related to the promotion of neovascularization. Our aim was to investigate whether rh-EPO augme...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.202744
更新日期:2017-04-05 00:00:00
abstract:BACKGROUND:Drug-eluting stents represent a major advance in interventional cardiology. However, the current drug-eluting stents have significant limitations. One of the major problems is very late stent thrombosis, which is likely caused by inflammation and a hypersensitivity reaction related to a polymer on the stent....
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:The activation of extracellular signal-regulated kinase1/2 (ERK1/2) has been shown to be important signaling pathway in the ischemic preconditioning (IPC) response. Recently, some studies suggest a key role for the mitochondrial ATP-sensitive potassium channel (mKATP) as both a trigger and an end effector of...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2004-03-01 00:00:00
abstract:BACKGROUND:Gingerol is the generic term for pungent constituents in ginger, which has been reported to be effective for inhibiting vomiting. We attempted to investigate the antiemetic effect of gingerol and its effective mechanism on substance P and NK(1) receptors in minks. METHODS:The antiemetic effect of gingerol w...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-02-20 00:00:00
abstract:BACKGROUND:One stage transanal Soave pull-through procedure (TSPP) is a recent popular operation in the treatment of Hirschsprung's disease (HD). With no visible scar and a short hospital stay, it is well accepted by surgeons and mothers. In the conventional Soave procedure, a long rectal muscular cuff left for anocoli...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2006-01-05 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:During cardiac arrest, the gastrointestinal tract is sensitive to ischemia. Protection of the gastrointestinal tract is a critical factor in determining prognosis following cardiopulmonary resuscitation (CPR). This study seeks to determine the extent of gastrointestinal tract injury and the potential protect...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-12-01 00:00:00
abstract:BACKGROUND:The most common obstruction sites for obstructive sleep apnea hypopnea syndrome (OSAHS) are the oropharynx and the glossopharyx. The diagnosis of glossopharyngeal airway obstruction is difficult. The study aimed to assess the effect of upper airway reconstructive surgery for OSAHS based on polysomnography (P...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:To describe the methods which were used to develop collagen-based materials for wound dressing. METHODS:Fresh frozen bovine tendon was treated with 0.05 mol/L acetic acid at pH 3.2 for 48-72 hours, homogenized, filtered, mixed with 8% chondroitin sulphate, for creating a deaerated 1.5%-2.5% collagen solution...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:Chronic liver disease causes aberrant formation of fibrous tissue that impedes normal liver function, ultimately resulting in liver cirrhosis. Iron uptake can occur within the hepatic parenchyma or within the various nodules that form in a cirrhotic liver, termed siderotic nodules (SN). We aimed to investiga...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:The continual and rapid development of techniques which are used for diagnosis and treatment makes management of colorectal cancer more difficult depending on single discipline. Colorectal cancer multidisciplinary team (MDT) working model is recommended by UK and other countries, but there is little informat...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00