Abstract:
Background:Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle. T-to-C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNAGlu) gene has previously been associated with maternally inherited diabetes and deafness. However, the association between MERRF and mitochondrial T14709C mutation (m.T14709C) has never been reported before. Methods:Clinical information of a 17-year-old patient was collected; muscle biopsy and next-generation sequencing (NGS) of whole mitochondrial and neuromuscular disease panel were then conducted. Finally, sanger sequencing was carried out to confirm the mutations. Results:The patient presented a typical MERRF phenotype with muscle weakness, epileptic seizure, clonic episodes, cerebellar ataxia, and spinal scoliosis. Muscle biopsy showed RRFs which indicated abnormal mitochondrial functions. NGS of whole mitochondrial gene revealed m.T14709C mutation, confirmed by Sanger sequencing. Conclusion:We present a sporadic patient with typical MERRF presentation carrying the mutation of m.T14709C, which expanded the spectrum of m.T14709C. :一例中国肌阵挛性癫痫伴碎红纤维(MERRF)患者的新发线粒体基因T14709C点突变摘要背景:肌阵挛性癫痫伴碎红纤维(MERRF)综合征以肌阵挛、癫痫发作、小脑共济失调和肌活检发现破碎红纤维为主要特征。线粒体tRNAGlu基因14709位碱基的T到C突变(m.T14709C)此前报道与母系遗传性糖尿病与耳聋(MIDD)有关。但MERRF 与线粒体基因14709位碱基(m.T14709C)突变相关性未见报道。 方法:收集患者临床表现、肌活检表现和二代测序(全线粒体基因组和神经肌肉病靶向芯片)结果,并用Sanger测序来y验证点突变。 结果:患者表现为典型的MERRF表型,即肌无力、癫痫发作、肌阵挛、小脑共济失调伴有脊柱侧弯。肌活检可见破碎红纤维(RRF),提示线粒体功能异常。线粒体全基因组二代测序检出m.T14709C点突变,并由Sanger测序验证。 结论:报道一例典型MERRF表现的患者携带m.T14709C点突变,从而扩展了m.T14709C的临床表现谱系。.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Ban R,Guo JH,Pu CQ,Shi Q,Liu HX,Zhang YTdoi
10.4103/0366-6999.235120subject
Has Abstractpub_date
2018-07-05 00:00:00pages
1569-1574issue
13eissn
0366-6999issn
2542-5641pii
ChinMedJ_2018_131_13_1569_235120journal_volume
131pub_type
杂志文章abstract:OBJECTIVE:To investigate the histologic and histogenetic relationship between various types of rhabdomyosarcomas (RMS) and embryonal skeletal muscle (ESM) for further understanding of the histogenesis, classification and pattern of differentiation of RMS. METHODS:Fifty cases of variant types of RMS and 20 cases of ESM...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND:Despite the presigmoid transpetrosal approach has been used by different researchers in various ways, the surgical injury rate remains high. Applying a minimally invasive keyhole idea, we devised a presigmoid transpetrosal keyhole approach (PTKA), classified and quantitatively assessed their approach to the ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-04-20 00:00:00
abstract::Atriopeptin III (AP III) and its six analogues were synthesized by solid phase method and their diuretic and hypotensive activities were determined. Among these analogues, analogue [D-Ala-5, D-Arg-23] AP III was nearly 10 times as potent as AP III in diuretic activity while its hypotensive activity increased only 50% ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1995-04-01 00:00:00
abstract:BACKGROUND:Gastric stromal tumors arising from the muscularis propria are located in deeper layers. Endoscopic resection may be contraindicated due to the possibility of perforation. These tumors are therefore usually removed by surgical or laparoscopic procedures. This study evaluated the curative effects, safety and ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.157651
更新日期:2015-06-05 00:00:00
abstract:OBJECTIVE:To explore the characteristics of Helicobacter pylori (H. pylori) antigen in serum and to evaluate its clinical diagnostic value. METHODS:Enzyme-linked immunosorbant assay (ELISA) was developed to detect the soluble H. pylori antigen (S-Hp) and circulatory specific H. pylori antigen immunocomplexes (Hp-IC) i...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVE:To describe the clinical features, operative methods and postoperative management of the intra-axial tumors of medullocervical junction, and to make differential diagnosis for different subtypes. METHODS:Fifteen patients with intra-axial tumors of medullocervical junction were treated from August 1988 to Jun...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1998-11-01 00:00:00
abstract:BACKGROUND:Interferon (IFN) can inhibit human immunodeficiency virus type 1 (HIV-1) replication in vitro and in clinic. However, IFN therapy for HIV infection was limited by its moderate antiviral efficacy and its frequent adverse effects. In the present study we evaluated the anti-HIV efficacy of a novel synthesized s...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-02-01 00:00:00
abstract:OBJECTIVE:To review the advances of studies on vitamin D receptor and its role in the pathogenesis of diabetic nephropathy. DATA SOURCES:A comprehensive search of the PubMed literatures without restriction on the publication date was carried out using keywords such as vitamin D receptor and diabetic nephropathy. STUD...
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:A five-year follow-up study of intensive multifactorial intervention was undertaken to assess the changes of circulating serum amyloid A (SAA) levels and the incidence of atherosclerosis (AS) in patients with short-duration type 2 diabetes mellitus (T2DM) without macroangiopathy, and whether intensive multif...
journal_title:Chinese medical journal
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2009-11-05 00:00:00
abstract:BACKGROUND:Tumor involving the septum pellucidum is uncommon. Surgery as the main therapeutic procedure for this lesion is a challenge to neurosurgeons. We analyzed the clinical characteristics and pathological features of septum pellucidum tumor in 41 patients and compared the curative effects of frontal transcortical...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2005-05-20 00:00:00
abstract:OBJECTIVE:To investigate whether coagulation factor VII (FVII) polymorphisms play a role in the pathogenesis of coronary artery disease (CAD) and/or myocardial infarction (MI) in a series of Hans. METHODS:The Arg(353)Gln and HVR4 polymorphisms of FVII gene were determined in 374 patients undergoing selective coronary ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-08-01 00:00:00
abstract:BACKGROUND:Chronic obstructive pulmonary disease (COPD) is a progressive disease associated with a cellular inflammatory response mostly concerned with cigarette smoking. Chemokine receptors CCR1/5 play an important role in the inflammatory cells recruitment in the lung of COPD patients. The aim of this study was to de...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVES:To examine whether the expression of choline acetyltransferase (ChAT), a marker for cholinergic neurons, and growth-associated protein (GAP-43), a marker for synaptogenesis, occurs differently following compression vs. decompression of spinal cord, and whether the reactions have any relationship with the tim...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2000-08-01 00:00:00
abstract:OBJECTIVE:Hypertension is an important risk factor of cardiovascular disease and increases mortality in the elderly. However, the available medical evidences are both inconsistent and insufficient regarding establishing credible and useful blood pressure (BP) targets in the hypertensive elderly. This review summarizes ...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.4103/0366-6999.211885
更新日期:2017-08-20 00:00:00
abstract:BACKGROUND:Liver transplantation is the most effective treatment for end-stage liver diseases; however, infections after transplantation can seriously affect the patient's health. The aim of this research was to investigate the diagnosis and treatment of fungal infection following liver transplantation. METHODS:Clinic...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND:The mitochondrial displacement loop (D-loop) accumulates mutations and single nucleotide polymorphisms (SNPs) at a higher frequency than other regions of mitochondrial DNA (mtDNA). We previously identified disease risk-associated SNPs in the D-loop of chronic kidney disease (CKD) patients; in this study, we ...
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 investigate changes in intestinal microflora in patients with chronic severe hepatitis (CSH), and their role in this life-threatening disease. METHODS:We classified nineteen patients with chronic severe hepatitis as the CSH group, thirty patients with chronic hepatitis (CH) as the CH group and thirty-one ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2001-08-01 00:00:00
abstract:BACKGROUND:Hyperuricemia and gout have become public health concerns; many important guidelines have recommended xanthine oxidase inhibitors (XOIs) as the first-line urate-lowering therapies (ULTs) to treat chronic gout with hyperuricemia. However, whether treating hyperuricemia and gout with ULTs modifies cardiovascul...
journal_title:Chinese medical journal
pub_type: 杂志文章,meta分析
doi:10.1097/CM9.0000000000000682
更新日期:2020-04-20 00:00:00
abstract:BACKGROUND:Total knee arthroplasty (TKA) may be associated with serious complications that adversely affect outcomes and increase the likelihood of disability. However, few studies with sufficient sample size have reported postoperative complications following TKA among Chinese patients. This study aimed to evaluate co...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.213071
更新日期:2017-11-05 00:00:00
abstract::Diabetes mellitus and pancreatic ductal adenocarcinoma are two common diseases worldwidely which are both derived from different components of pancreas. The pancreatic and duodenal homeobox-1 (PDX1) is an essential transcription factor for the early development of pancreas that is required for the differentiation of a...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.1097/CM9.0000000000000628
更新日期:2020-02-05 00:00:00
abstract:OBJECTIVE:This article aims to present a brief profile of the advances in prevention and treatment of myocardial injury in cancer therapy based on relevant literature or reports. DATA SOURCES:The data cited in this review were obtained from articles indexed in PubMed and China National Knowledge Internet (CNKI) up to ...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.1097/CM9.0000000000000498
更新日期:2019-11-20 00:00:00
abstract:BACKGROUND:There are definite gender differences in patients with macular holes. Menopausal women over 50 years are most affected. We aimed to observe the effect of estrogen on collagen gel contraction by cultured human retinal glial cells. It is speculated that estrogen could strengthen the tensile stress of the macul...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-11-01 00:00:00
abstract:OBJECTIVES:To study mitogen-activated protein kinase (MAPKs) activation in fibroblast-like synoviocytes (FLS) of rheumatoid arthritis (RA) under the stimulation of IL-1 beta, and to elucidate the role of protein tyrosine kinase (PTK) in the activation of MAPKs. METHODS:Primary cultures of RA FLS were used. Western blo...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2000-10-01 00:00:00
abstract:BACKGROUND:Colon cancer is one of the major malignancies worldwide and it still remains resistant to much of the currently available chemotherapy. Downregulation of HGF/c-Met signaling pathway is an emerging therapy for cancer treatment. METHODS:In this study, the inhibitory effects of c-Met phosphorylation were obser...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Now lung volume reduction surgery (LVRS) has become one of the most effective methods for the management of some cases of severe chronic obstructive pulmonary disease (COPD). We evaluated the mid-term effects of LVRS on pulmonary function in patients with severe COPD. METHODS:Ten male patients with severe C...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2007-04-20 00:00:00
abstract::Plasma levels of tissue plasminogen activator (tPA) antigen, tPA activity and plasminogen activator inhibitor (PAI) activity were determined in 40 cases of acute myocardial infarction (AMI) at the onset and 2-4 weeks after the onset of the disease. 24 healthy subjects served as controls. At the onset of AMI, mean plas...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1990-07-01 00:00:00
abstract:OBJECTIVE:To investigate whether pretreatment with repeated electroacupuncture (EA) at the Baihui acupoint could induce ischemic tolerance against transient focal cerebral ischemic injury in rats. METHODS:Thirty male Sprague-Dawley (SD) rats were randomly divided into 3 groups (n=10 for each): the control group consis...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVE:To investigate the effects of red orpiment on cell morphology, expression of promyelocytic leukemia (PML) mRNA and its protein localization in NB4 and HL-60 cell lines. METHODS:Cell morphology was assayed by Wright's staining and fluorescence staining, while PML mRNA expression was determined by RT-PCR. PML ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVE:To study if the functions of C gene and its promotor are related to the pathogenesis of hepatitis B and to describe their hot spot mutations in Chinese patients. DATA SOURCES:We have studied this subject in recent years. A mini-review is based on some unpublished works. DATA SELECTION:The sequence data of C...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:
更新日期:1999-02-01 00:00:00
abstract:BACKGROUND:The development of the targeted signal transduction inhibitor STI571 has prompted us to treat chronic myeloid leukemia in different ways. Since STI571 may reverse multidrug-resistance of K562/MDR cells in vitro, we studied the effect of STI571 on multidrug-resistant K562 cells in vivo. METHODS:Multidrug-res...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2006-06-05 00:00:00