Abstract:
Background:Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy. Methods:Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing. Results:The patient presented with mild facial weakness, humeral poly-hill sign, scapular winging, peroneal weakness, drop foot, pes cavus, and myoclonic epilepsy. Furthermore, electrophysiology revealed severely demyelinated and axonal injury. The muscle and nerve biopsy revealed broadly fiber Type II grouping atrophy and myelinated nerve fibers that significantly decreased with thin myelinated fibers and onion bulbs changes. Generalized sharp and sharp-slow wave complexes on electroencephalography support the diagnosis toward myoclonic epilepsy. In addition, molecular testing demonstrated a co-segregated 20-kb 4q35-EcoRI fragment and permissive allele A, which corresponded with D4Z4 hypomethylation status in the family. Both the patient's mother and brother only presented the typical FSHD but lacked overlapping syndromes. However, no mutations for hereditary peripheral neuropathy and myoclonic epilepsy were discovered by MLPA and WES. Conclusions:The present study described a "tripe trouble" with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling. :一例面肩肱型肌营养不良症合并周围神经病和肌阵挛性癫痫病例摘要背景: 面肩肱型肌营养不良症(FSHD)表现为不对称性肌无力和肌萎缩,主要累及面肌、肩胛带肌和上臂肌群,逐渐向下进展累及躯干肌和下肢肌群,除此还有骨骼肌系统外症状以及“合并综合征”。本研究旨在分析一例面肩肱型肌营养不良症合并周围神经病和肌阵挛性癫痫的病例。 方法: 采用标准的临床评估方法,完善临床辅助检查(生化指标、肌电图、肌肉MRI、肌肉神经活检等)。基于脉冲凝胶电泳的Southern Blot的分子检测;目标区域甲基化测序的方法检测甲基化水平;通过MLPA技术和全外显子测序方法,排除及寻找潜在的基因突变。 结果: 先证者为25岁男性表现为轻度的面肌、肩胛带肌、上臂肌群的萎缩,典型的“弓形足”、“鹤腿”,以及肌阵挛性癫痫。脑电图提示右颞叶区可见显著的尖波和尖慢波支持肌阵挛性癫痫的诊断,电生理提示严重的脱髓鞘和轴突损伤,腓骨肌肌活检病理染色提示肌纤维中-重度萎缩伴Ⅱ型肌灶区同型肌群化,腓肠神经活检提示有髓神经纤维显著减少伴薄髓纤维和典型的“洋葱球”样改变。分子杂交检测到先证者存在一条缺失为20-kb的4q35-EcorⅠ片段和许可的4qA等位序列,进一步分析PAS区域甲基化提示存在显著的低甲基化,支持面肩肱型肌营养不良症的诊断,同样先证者的母亲和弟弟仅仅表现为典型的FSHD患者。然而,进一步MLPA技术和全外显子测序未发现遗传性周围神经病和肌阵挛性癫痫相关的基因突变。 结论: 本研究描述一例FSHD合并遗传性周围神经病和肌阵挛性癫痫的家系,增加临床上非典型疾病病例,并对非典型疾病的诊断提供参考,为临床治疗和基因咨询提供一个可靠的线索。.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Lin XD,He JJ,Lin F,Chen HZ,Xu LQ,Hu W,Cai NQ,Lin MT,Wang N,Wang ZQ,Xu GRdoi
10.4103/0366-6999.240797subject
Has Abstractpub_date
2018-09-20 00:00:00pages
2164-2171issue
18eissn
0366-6999issn
2542-5641pii
ChinMedJ_2018_131_18_2164_240797journal_volume
131pub_type
杂志文章abstract:BACKGROUND:Gastric cancer (GC) is one of the most globally prevalent cancers in the world. The pathogenesis of GC has not been fully elucidated, and there still lacks effective targeted therapeutics. The influence of altered kinesin superfamily protein 22 (KIF22) expression in GC progression is still unclearly. The aim...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.1097/CM9.0000000000000742
更新日期:2020-04-20 00:00:00
abstract::The long-term prognosis and causes of death of myocardial infarction (MI) in 62 diabetics were studied. The mean follow-up time was 6.2 years, 11 patients died in the acute stage of MI, 9 of them (81.8%) had anterior infarction and their major causes of death were ventricular fibrillation and cardiogenic shock (72.2%)...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
abstract:BACKGROUND:The patients with unprotected left main coronary artery (ULMCA) stenosis and chronic total occlusion (CTO) lesions at the left anterior descending (LAD) artery are often recommended for bypass surgery. However, some of these patients are deemed inoperable or are at high risk for surgery. In this study, we ex...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-04-05 00:00:00
abstract:OBJECTIVE:To investigate the effects of gypenosides (Gs) on cellular immunocompetence in the gamma-ray-irradiated mice. MATERIALS AND METHODS:Tested mice of ICR strain were treated continuously with Gs for 10 days before or after 4 Gy gamma-irradiation. Body weight and splenic weight of mice were measured. The blastog...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1996-02-01 00:00:00
abstract:BACKGROUND:It is the first multicenter clinical study in China to investigate zanamivir use among Chinese adolescents and adults with influenza-like illness (ILI) since 2009, when inhaled zanamivir (RELENZA(®)) was marketed in China. METHODS:An uncontrolled open-label, multicentre study to evaluate the antiviral activ...
journal_title:Chinese medical journal
pub_type: 杂志文章,多中心研究
doi:
更新日期:2012-09-01 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::Renal angiomyolipoma is a type of benign tumor that occurs sporadically in addition to being associated with tuberous sclerosis. Preoperative embolization of large tumors is important to avoid excessive blood loss during surgery. We reported a patient with a 5505-g giant renal angiomyolipoma in a solitary kidney. The ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVE:Familial hypertrophic cardiomyopathy (FHCM) is a primary myocardial disease characterized by unexplained ventricular hypertrophy. The application of the techniques of reverse genetics has identified at least five chromosomal loci as the major causes for FHCM in diverse ethnic populations, suggesting substanti...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1998-05-01 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::[This corrects the article DOI: 10.4103/0366-6999.181956.]. ...
journal_title:Chinese medical journal
pub_type: 杂志文章,已发布勘误
doi:10.4103/0366-6999.185863
更新日期:2016-07-20 00:00:00
abstract:BACKGROUND:Preeclampsia (PE) is a multifactorial pregnancy complication. Maternal underlying condition and adverse factors both influence the pathogenesis of PE. Abnormal lipid metabolism as a maternal underlying disease may participate in the occurrence and development of PE. This study aimed to observe the effects of...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Airway mucus hypersecretion is an important pathophysiological feature of chronic obstructive pulmonary disease, which is closely associated with cigarette smoking. However, the signal transduction pathway from the cell surface to the nucleus through which cigarette smoke causes upregulation of mucin gene ex...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:It has been confirmed that defective expression of human leukocyte antigen class I (HLA-I) molecules can contribute to the immune evasion of cancer cells in some types of cancer. The aim of this study was to examine the expression of HLA class I antigen and the antigen-processing machinery (APM) components i...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-02-01 00:00:00
abstract:: ...
journal_title:Chinese medical journal
pub_type: 信件
doi:10.4103/0366-6999.246080
更新日期:2018-12-05 00:00:00
abstract:BACKGROUND:In the era of highly active antiretroviral therapy (HAART), the use of antiretrovirals as post-exposure prophylaxis (PEP) was the most important strategy for preventing occupational exposure to blood or fluids containing human immunodeficiency virus (HIV). The objective of this study was to retrospectively e...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
abstract::This is China's pilot study in the assessment of the diagnostic value of serum soluble IL-2 receptor (sIL-2R) in gastric cancer. We measured its level by ELISA method in 45 patients with gastric cancer (without metastasis: 32; with metastasis: 5; recurrence: 8) 27 gastric ulcer, 27 superficial gastritis and 44 healthy...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract:BACKGROUND:Restrictive cardiomyopathy (RCM) is the least common cardiomyopathy in which the walls are rigid and the heart is restricted from stretching and filling properly. Cardiac troponin I (cTnI) mutation-caused myofibril Ca2+ hypersensitivity has been shown to be associated with impaired diastolic function. This s...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.219150
更新日期:2017-12-05 00:00:00
abstract::Microencapsules for pituitary transplantation was successfully developed with sodium alginate and poly-L-lysine (average molecular weight MW 70,000). The permeability of the capsular membrane (CM) was tested. The results showed that 60% of growth hormone (GH), thyroid stimulating hormone (TSH), prolactin (PRL) have pa...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1994-03-01 00:00:00
abstract:Background::Core fucosylation (CF), catalyzed by α-1,6 fucosyltransferase (Fut8) in mammals, plays an important role in pathological processes through posttranslational modification of key signaling receptor proteins, including transforming growth factor (TGF)-β receptors and platelet-derived growth factor (PDGF) recep...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.213963
更新日期:2017-09-20 00:00:00
abstract:OBJECTIVE:To analyze the effect and mechanism of hyperbaric oxygen (HBO) treatment for severe brain injury (SBI). METHODS:Fifty-five patients were divided into a treatment group of 35 patients and a control group of 20 patients. We observed the alterations of clinical, brain electric earth map (BEAM), endothelin (ET) ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00
abstract::With overall analysis of symptoms and signs of myasthenia gravis (MG) basing on "Pi (Spleen) Deficiency" [symbol: see text] theory and with years of our clinical experience in treating MG, we performed a pharmacological study of Astragalus saponins and Buzhong Yiqi Compound (Tonic granulae invigorating vital energy) i...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract:BACKGROUND:Major atrial coronary arteries, including the sinus node artery (SNA), were commonly found in the areas involved in atrial fibrillation (AF) ablation and could cause difficulties in achieving linear block at the left atrial (LA) roof. The SNA is a major atrial coronary artery of the atrial coronary circulati...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-01-01 00:00:00
abstract::The radiographic measurement of the prevertebral soft tissue of cervical vertebrae was performed in 87 normal adults. According to the results of the measurement, 10 mm and 20 mm were used as the upper limit normal values of the retropharyngeal and retrotracheal space respectively. We conclude that although the widene...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1994-06-01 00:00:00
abstract:BACKGROUND:Endogenous hydrogen sulfide is a new neuromodulator which takes part in the regulation of central nervous system physiology and diseases. Whether endogenous hydrogen sulfide in the central nervous system regulates cardiovascular activity is not known. In the present study, we observed the hemodynamic changes...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-11-01 00:00:00
abstract:OBJECTIVE:To investigate the effectiveness of using continuous veno venous hemofiltration (CVVH) in the treatment of acute necrotizing pancreatitis (ANP). METHODS:Thirteen ANP patients were involved in this study, including 4 females and 9 males, averaging 50.6 +/- 10.8 years old. CT scans upon admission revealed 33% ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-04-01 00:00:00
abstract:BACKGROUND:Intratracheal instillation of blood induces self-repaired acute lung injury. However, the mechanism of repair has been unclear. Heme-oxygenase (HO)-1, which catalyzes heme breakdown, acts as an inducible defense against oxidative stress and plays an important role in inflammation. The objective of this study...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-09-05 00:00:00
abstract::The RV lead position, either RVA or RVHS appears to make no difference in the response to CRT but the LV lead placement play a vital role.9,30 The latest activated regions of LV or areas without transmural myocardial scar for an optimal CRT are preferred. Currently, data demonstrate that no significant difference of c...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVE:The objective was to provide a brief history of J wave syndromes and to summarize our current understanding of their molecular, ionic, cellular mechanisms, and clinical features. We will also discuss the existing debates and further direction in basic and clinical research for J wave syndromes. DATA SOURCES:...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.4103/0366-6999.154320
更新日期:2015-04-05 00:00:00
abstract::Ten Chinese Leishmania isolates from different endemic areas and hosts are characterized by isoenzyme electrophoresis for 9 enzymes. Seven were isolated from visceral leishmaniasis patients, one from an infected dog, one from a sandfly and one from a naturally infected racoon dog. Eight of the 10 isolates were indisti...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1989-09-01 00:00:00
abstract:BACKGROUND:We conducted a prospective, multicenter investigation of incidence, management and outcome of neonatal acute respiratory disorders (NARD), and evaluated related perinatal risk factors and efficacy of respiratory therapies in neonatal intensive care units (NICUs) in a Chinese neonatal network. METHODS:Data w...
journal_title:Chinese medical journal
pub_type: 杂志文章,多中心研究
doi:
更新日期:2010-10-01 00:00:00