Abstract:
Background:Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease (LOPD) who carried novel GAA gene mutations. Methods:Clinical and pathological data of patients diagnosed with glycogen storage disease at our institution from April 1986 to August 2017 were collected, and next-generation sequencing of frozen muscle specimens was conducted. Results:Of the five patients included in the study, the median disease onset age was 13 years, with a median 5 years delay in diagnosis. The patients mainly manifested as progressive weakness in the proximal and axial muscles, while one patient developed respiratory insufficiency that required artificial ventilation. In muscle biopsies, vacuoles with variable sizes and shapes appeared inside muscle fibers, and they stained positive for both periodic acid-Schiff and acid phosphatase staining. Ten GAA gene mutations, including seven novel ones (c.796C>A, c.1057C>T, c.1201C>A, c.1780C>T, c.1799G>C, c.2051C>A, c.2235dupG), were identified by genetic tests. Conclusions:The seven novel GAA gene mutations revealed in this study broaden the genetic spectrum of LOPD and highlight the genetic heterogeneity in Chinese LOPD patients. :5例中国晚发型Pompe病患者的7个GAA基因新发突变报道 摘要 背景:Pompe病是一种由酸性α-1,4-葡糖苷酶基因(GAA基因)突变引起的罕见的的糖原累积病,不同种族的Pompe病患者临床表型及基因型差异很大,且其临床表型-基因型相关性尚不明确。本研究旨在报告5例伴有新发GAA基因突变的中国晚发型Pompe病患者的临床、病理及基因突变特点。 方法:收集从1986年4月至2017年8月在我院诊断为糖原累积病的患者的临床及病理资料,提取患者冰冻肌肉标本DNA进行二代测序和基因突变分析。 结果:5例患者的发病年龄中位数为13岁,病程中位数为5年。患者主要表现为进展性四肢近端肌肉及中轴肌无力,其中1例患者出现了呼吸困难并需要呼吸机辅助呼吸。肌肉活检可见肌纤维出现大小及形态各异的空泡样变性,PAS及ACP染色阳性。基因检测共发现到10个GAA基因突变,其中7个为新发突变(c.796C>A, c.1057C>T, c.1201C>A, c.1780C>T, c.1799G>C, c.2051C>A, c.2235dupG)。 结论:7个GAA基因新发突变扩展了晚发型Pompe病患者基因表达谱,并提示中国晚发型Pompe病患者有较强的遗传异质性。.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Liu HX,Pu CQ,Shi Q,Zhang YT,Ban Rdoi
10.4103/0366-6999.225056subject
Has Abstractpub_date
2018-02-20 00:00:00pages
448-453issue
4eissn
0366-6999issn
2542-5641pii
ChinMedJ_2018_131_4_448_225056journal_volume
131pub_type
杂志文章abstract:BACKGROUND:MicroRNAs (miRNAs) contribute to tumorigenesis by acting as either oncogenes or tumor suppressor genes. In this study, we investigated the role of miR-145 in the pathogenesis of uveal melanoma. METHODS:Expression profiles of miRNAs in uveal melanoma were performed using Agilent miRNA array. Quantitative rea...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Sericin peptide (SP) has shown a powerful anti-oxidant property in a host of studies. The present study was designed to investigate the possible protective effects of SP against alcohol-induced gastric lesions in mice and to explore the potential mechanisms. METHODS:Animals were randomly divided into 5 grou...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-10-20 00:00:00
abstract:Background:Development of innovative immunotherapy is imperative to improve the poor survival of the nasopharyngeal carcinoma (NPC) patients. In this study, we evaluated the T cell response to melanoma-associated antigen (MAGE)-A1, MAGE-A3, or synovial sarcoma X-2 (SSX-2) in the peripheral blood of treatment-naive NPC ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.232791
更新日期:2018-06-05 00:00:00
abstract:BACKGROUND:In tumors the process of apoptosis occurs over an interval of time after chemotherapy. It is important to determine the best time for detecting apoptosis by in vivo imaging. In this study, we evaluated the dynamics and feasibility of imaging non-small cell lung cancer (NSCLC) apoptosis induced by paclitaxel ...
journal_title:Chinese medical journal
pub_type: 杂志文章
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更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Mutation or deletion in the phosphatase and tensin homologue deleted on chromosome ten (PTEN) gene has been identified as an important cause of endometrial carcinoma; stromal cell derived factor-1alpha (SDF-1alpha) exerts growth-promoting effects on endometrial cancer cells through activation of the PI-3 kin...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2006-03-05 00:00:00
abstract:OBJECTIVE:The purpose of this study was to review the current status of calcium phosphate (CaP) scaffolds combined with bone morphogenetic proteins (BMPs) or mesenchymal stem cells (MSCs) in the field of bone tissue engineering (BTE). DATE SOURCES:Data cited in this review were obtained primarily from PubMed and Medli...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.4103/0366-6999.155121
更新日期:2015-04-20 00:00:00
abstract:BACKGROUND:Inner retinal oxygenation response (ΔPO(2)) is a worldwide study focus. However, the relevant reports on its radiological measurements are limited. In this study, magnetic resonance imaging (MRI), employing T1 weighted image (T1WI), was used to detect changes in ΔPO(2) following 100% oxygen inhalation in hum...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-11-01 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:OBJECTIVE:To evaluate the efficacy and safety of cordocentesis for prenatal diagnosis of various fetal diseases. PATIENTS AND METHODS:Fetal blood sampling was performed in 30 pregnancies from gestational week 19 to 36 for various prenatal diagnoses. We used Aloka SSD-650 real-time ultrasound scanner with 3.5 mHz curvi...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1996-04-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.147824
更新日期:2015-01-05 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-08-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.1097/CM9.0000000000000544
更新日期:2019-12-05 00:00:00
abstract::Using ambulatory electrocardiography (AE), the spontaneous variability in 40 cases of chronic stable premature ventricular complexes (PVCs) was studied. The mean hourly PVC frequencies over 24 hours ranged 2-1 682. When analysing pooled data, there was significant variance between different monitoring periods and betw...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1989-04-01 00:00:00
abstract:OBJECTIVE:To study the potential and advantages of internal distraction osteogenesis in mandibular functional reconstruction. METHODS:Three types of mandibular distractors were used in eight patients with various mandibular defects due to tumor or cyst resection. The average age of the patients was 31.5 years old (age...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-12-01 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...
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doi:
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND:Inflammation and coagulation are two intimately cross-linked defense mechanisms of most, if not all organisms to injuries. During cardiopulmonary bypass (CPB), these two processes are activated and interact with each other through several common pathways, which may result in subsequent organ dysfunction. In ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND:Pancreatic cancer is one of the most aggressive human malignancies. Lymphangiogenesis plays an important role in lymph node metastasis of many solid tumors. It is well known that low molecular weight heparins (LMWHs) can inhibit cell growth, cell invasion and angiogenesis, which are key processes in tumor pr...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2009-07-05 00:00:00
abstract:BACKGROUND:Candidal esophagitis is the primary infection among all digestive tract opportunistic ones in acquired immunodeficiency syndrome (AIDS) cases. X-ray manifestation reports of it are still rare. This study aimed to conduct a retrospective analysis on the X-ray data of 6 AIDS cases complicated with candidal eso...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-04-01 00:00:00
abstract:OBJECTIVE:To provide epidemiological data for revising the diagnostic criteria of neonatal hyperbilirubinemia in China. METHODS:A survey was performed among full-term infants in multiple centers throughout the country. From less than 24 hours after birth, the infants' bilirubin levels were measured every day until the...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2001-04-01 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:BACKGROUND:Coronary heart diseases (CHD) have been identified as one of topmost diseases affecting the Chinese population. However, depression in CHD has not been reported and there are limited high quality empirical studies in China focused on the prevalence of the comorbidity. This study aimed to estimate the pooled ...
journal_title:Chinese medical journal
pub_type: 杂志文章,meta分析,评审
doi:
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:In central precocious puberty (CPP), the pulse secretion and release of gonadotropin-releasing hormone (GnRH) are increased due to early activation of the hypothalamic-pituitary-gonadal axis, resulting in developmental abnormalities with gonadal development and appearance of secondary sexual characteristics....
journal_title:Chinese medical journal
pub_type: 杂志文章,多中心研究,随机对照试验
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journal_title:Chinese medical journal
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更新日期:2011-09-01 00:00:00
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更新日期:1994-10-01 00:00:00
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journal_title:Chinese medical journal
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更新日期:2019-11-05 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-10-01 00:00:00
abstract:OBJECTIVE:To introduce the imaging characteristics of moyamoya disease (MMD) using high-resolution magnetic resonance imaging (HR-MRI) and to discuss the role of HR-MRI in differentiating MMD from other intracranial artery diseases, especially intracranial atherosclerotic disease (ICAD). DATA SOURCES:This review was b...
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pub_type: 杂志文章,评审
doi:10.4103/0366-6999.170257
更新日期:2015-12-05 00:00:00
abstract:BACKGROUND:Asthma is a heterogeneous disease for which a strong genetic basis has been firmly established. Until now no studies have been undertaken to systemically explore the network of asthma-related genes using an internally developed literature-based discovery approach. This study was to explore asthma-related gen...
journal_title:Chinese medical journal
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doi:
更新日期:2013-07-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
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更新日期:2011-05-01 00:00:00