Abstract:
BACKGROUND:Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with symptoms including nystagmus, impaired motor development, ataxia, and progressive spasticity. The proteolipid protein 1 (PLP1) gene is the only pathogenic gene of PMD. Duplication of the PLP1 gene is the most frequent gene defect, accounting for 50%-70% of PMD cases, whereas point mutations in the coding sequence or the splice sites account for 10%-25% of PMD cases. This study aimed to identify PLP1 mutations in nine unrelated Chinese patients (P1-9) with PMD, and 14 subjects from the family of patient 2 were also described. METHODS:Genomic DNA was extracted from peripheral blood samples. Gene dosage was determined using the multiplex ligation-dependent probe amplification (MLPA). All 7 exons and exon-intron boundaries of the PLP1 gene were amplified and analyzed using direct DNA sequencing. RESULTS:Of these nine patients, there were four transitional, four classical, and one connatal PMD according to their clinical and radiological presentations. PLP1 duplications were identified in patients 1-7 with PMD. Their mothers were PLP1 duplications carriers as well. Both duplication carriers and normal genotypes of PLP1 were identified in the family members of patient 2. A c.517C > T (p. P173S) hemizygous missense mutation in exon 4 was found in patient 8 with PMD, and his mother was shown to be a heterozygote of this mutation. CONCLUSIONS:We identified seven genomic duplications and one missense mutation (p. P173S) of the PLP1 gene in eight Chinese patients with PMD. This is the report about PLP1 mutations in PMD patients from the mainland of China.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Wang JM,Wu Y,Wang HF,Deng YH,Yang YL,Qin J,Li XY,Wu XR,Jiang YWsubject
Has Abstractpub_date
2008-09-05 00:00:00pages
1638-42issue
17eissn
0366-6999issn
2542-5641journal_volume
121pub_type
杂志文章abstract:OBJECTIVE:To report the surgical techniques and results of an 8-year follow-up study of 42 patients with a modified orthotopic ileal neobladder restoring normal anatomical relationship. METHODS:Total cystoprostatectomy was performed extraperitoneally. A 45 - 50 cm segment of the ileal loop was isolated, detubularized,...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2003-12-01 00:00:00
abstract::This paper reports the results of serological survey of 318,912 persons for nasopharyngeal carcinoma (NPC) in 21 cities and counties of south China. There were 8,441 persons with positive VCA-IgA antibody (single item positive) of EB virus (EBV), with a rate of 2.65%. In these VCA-IgA positive persons, 287 persons als...
journal_title:Chinese medical journal
pub_type: 杂志文章,多中心研究
doi:
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:Intermediate-risk acute myeloid leukemia (IR-AML), which accounts for a substantial number of AML cases, is highly heterogeneous. We systematically summarize the latest research progress on the significance of gene mutations for prognostic stratification of IR-AML. DATA SOURCES:We conducted a systemic search...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.4103/0366-6999.163400
更新日期:2015-09-05 00:00:00
abstract:BACKGROUND:Previous studies have different viewpoints about the clinical impact of methicillin resistance on mortality of hospital-acquired bloodstream infection (BSI) patients with Staphylococcus aureus (S. aureus). The objective of this study was to investigate the mortality of hospital-acquired BSI with S. aureus in...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:A satisfactory animal model of breast cancer metastasizing to bone is unavailable. In this study, we used human breast cancer stem-like cells and human bone to build a novel "human-source" model of human breast cancer skeletal metastasis. METHODS:Human breast cancer stem-like cells, the CD44+/CD24-/lower su...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-10-20 00:00:00
abstract:OBJECTIVE:To characterize the mRNA expression of CXC chemokine IL-8, CC chemokine monocyte chemothractant protein-1 (MCP-1) and regulated on activation, normal T cell expressed and secreted (RANTES), and a newly defined DC chemokine DC-CK1 as well as the expression of IL-8 receptor, MCP-1 receptor and RANTES receptor i...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract:BACKGROUND:The growing enthusiasm for coronary artery bypass grafting (CABG) without cardiopulmonary bypass (CPB) is emerging, but the role of off-pump coronary artery bypass (OPCAB) in clinical practice remains controversial. The purpose of this study was to assess differences in the incidences of stroke, atrial fibri...
journal_title:Chinese medical journal
pub_type: 杂志文章,meta分析
doi:
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Prediabetes is an early stage of β-cell dysfunction presenting as insulin resistance. Evidences suggest that endoplasmic reticulum (ER) stress is involved in the pathogenesis of type 2 diabetes mellitus and prediabetes. In a Chinese population with prediabetes, we investigated single nucleotide polymorphisms...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:The hyperdynamic circulatory state in end-stage liver disease is similar to the hemodynamic state in endotoxic shock. Recent research indicated that proper use of norepinephrine (NE) in patients with endotoxic shock could improve the perfusion of visceral organs and raise the survival rate. In this study, do...
journal_title:Chinese medical journal
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2005-12-05 00:00:00
abstract:BACKGROUND:Acinetobacter baumannii is one of the main gram-negative bacilli in clinical practice. Nosocomial infections caused by multi-drug resistance Acinetobacter baumannii is very difficult to treat. This study was designed to investigate the antimicrobial resistance characteristics and four resistant gene expressi...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2005-01-20 00:00:00
abstract:BACKGROUND:Alpha 2A adrenergic receptor (AR) is a subtype of α2 AR belonging to G protein-coupled receptors, and exerts a variety of biological effects. Recent studies have demonstrated that the α2A AR activation was closely related with inflammatory reaction. The present study aimed to investigate the influence of α2A...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-04-01 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::The effects of anisodamine on acetylcholine-induced endothelium-dependent relaxation were studied in organ chambers and under bioassay conditions. In organ chamber experiments, both acetylcholine and bradykinin induced an endothelium-dependent relaxation of norepinephrine-contracted canine femoral arteries in a concen...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1992-08-01 00:00:00
abstract::Hemoglobin Jianghua (Hb Jianghua) is a new fast--moving hemoglobin variant found in China, being named after the county where it was detected. Having its primary structure analysed, we report in this paper the results of studies on its function. The absorption spectrum, response to allosteric effectors and oxygen equi...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:Infertility is a major medical and social problem, and elementary research on the spermatozoal proteins and their functions are relatively scarce and there are very few confirmed and effective options for the treatment of male infertility. Thus, it is essential to find candidate proteins that affect male inf...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2010-10-01 00:00:00
abstract:Background:Patients with major depressive disorder (MDD) usually have high risk of suicidality. Few studies have investigated the effects of stressful life events (SLEs) on the risk of suicide in Chinese patients who have developed MDD. This study aimed to investigate the impact of SLEs on suicidal risk in Chinese pati...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.229898
更新日期:2018-04-20 00:00:00
abstract::Metastases to the breast from extramammary neoplasms are very rare, constituting 2.7% of all malignant breast tumours. The most common primary tumor metastatic to the breast is primary breast cancer. Rectal cancer metastasizing to the breast is extremely rare. We report a case of aggressive rectal carcinoma with metas...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND:Pancreatic cancer is a highly malignant tumor affecting an ever increasing number of patients with a mean 5-year survival rate below 4%. Therefore, gene therapy for cancer has become a potential novel therapeutic modality. In this study we sought to determine the inhibitory effects of adenovirus-mediated hum...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-10-20 00:00:00
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 r...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.225056
更新日期:2018-02-20 00:00:00
abstract:BACKGROUND:Epinephrine has been used as a first-choice vasopressor drug for cardiac arrest (CA) since 1974. However, the administration of epinephrine is controversial. This study aims to compare the effects of Shen-Fu injection (SFI) and epinephrine on resuscitation outcomes in a porcine model of prolonged CA. METHOD...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Cervical arthroplasty is indicated to preserve cervical motion and prevent accelerated adjacent segment degeneration. Whether accelerated adjacent segment degeneration is prevented in the long term is unclear. This trial compared adjacent segment degeneration in Bryan disc arthroplasty with that in anterior ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:The cell layer of the ciliary epithelium is responsible for aqueous humor secretion and maintenance. Ion channels play an important role in these processes. The main aim of this study was to determine whether the well-characterized members of the Kv1 family (Kv1.3) contribute to the Kv currents in ciliary ep...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-11-20 00:00:00
abstract:BACKGROUND:Traditionally, displaced greater tuberosity fractures are treated with open reduction and internal fixation. Arthroscopic treatment and outcome of greater tuberosity fractures is far from comprehensive. The objective of the current study was to assess the surgical procedure and outcome of an arthroscopic met...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:Mitochondrial diseases are a group of energy metabolic disorders with multisystem involvements. Variable clinical features present a major challenge in pediatric diagnoses. We summarized the clinical spectrum of m.3243A>G mutation in Chinese pediatric patients, to define the common clinical manifestations an...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.187845
更新日期:2016-08-20 00:00:00
abstract:BACKGROUND:Recurrence of hepatitis B-related hepatocellular carcinoma (HCC) after curative resection is the leading factor influencing the prognosis of the disease. Therefore, further improvement of long-term survival may depend on the prevention and treatment of the recurrent tumor. The aim of this research was to inv...
journal_title:Chinese medical journal
pub_type: 临床试验,杂志文章
doi:
更新日期:2013-03-01 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::Endolymphatic sac papillary tumor (ELST) is an extremely rare and aggressive tumor characterized by hearing loss and temporal bone destruction. A case with clinical, imaging, pathologic and treatment data is reported and relevant literature is reviewed. A 25-year-old woman, with ELST underwent craniotomy for tumor sub...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:
更新日期:2011-11-01 00:00:00
abstract::102 patients with nasal polyps receiving ND: YAG laser surgery or routine surgery were followed up for 18-36 months. The postoperative recurrence rates were 40.6% (24/54) and 66.6% (32/48) respectively for the patients of the two groups. Laser surgery is marked by less bleeding, no postoperative packing of the nose an...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1993-09-01 00:00:00
abstract::The persistence of anti-HBs was investigated in 95 juveniles who received plasma-derived HBV vaccine (vaccine group) and 63 counterparts who got anti-HBs from natural HBV infection (infection group) for a period of five years. The positive rates of anti-HBs from the first to fifth year in the vaccine group are 97.89%,...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1993-02-01 00:00:00
abstract:BACKGROUND:miR-338-3p is a recently discovered miRNA and is involved in cell differentiation. However, few data are yet available on the aberrant expression of miR-338-3p in human colorectal carcinoma (CRC). This work aimed to investigate the relationship between miR-338-3p expression pattern and clinicopathological fe...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00