Abstract:
:A family with Fabry's disease including 2 hemizygotes and 3 heterozygotes is reported. The ocular manifestations include tortuosity of conjunctival vessels, Fabry's deposits underlying the anterior capsule of the lens and the whorl-like corneal dystrophy. Foam cells or mulberry cells in the urinary sediment and varying numbers of high electron-dense inclusions in the cytoplasm of endothelial cells in skin lesions are also important in diagnosing this disease. The concentrations of lipid peroxide in the sera of 2 hemizygotes in this report were higher than normal, possibly due to the patients weak ability of anti-oxygenation and malfunction of cells whose plasma membranes are easily attacked by free oxygen radicals. The biochemical and pathological changes, diagnosis, treatment, genetics and prevention of the disease are discussed.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Bao LL,Guo LL,Li SN,Xiao J,Yang JS,Bai LR,Ye PM,Guo ZT,Liu DWsubject
Has Abstractpub_date
1990-02-01 00:00:00pages
134-41issue
2eissn
0366-6999issn
2542-5641journal_volume
103pub_type
杂志文章abstract:BACKGROUND:The mechanisms underlying postoperative pain remain unclear. Neurotransmitters of excitatory and inhibitory amino acids play an important role in the transmission and modulation of pain in the spinal dorsal horn. This study aimed to investigate the changes of release of excitatory and inhibitory amino acids ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2007-11-20 00:00:00
abstract::Filariasis control including a preparatory phase in the early 50s and two more extensive campaigns in the late 50s and 70s, has gained remarkable achievements. By the end of 1987, filariasis in 781 (90.4%) of 864 counties/cities was brought under control, i.e., the microfilariasis rate declined to less than 1% in the ...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1991-06-01 00:00:00
abstract::It is difficult to make a precise diagnosis of intestinal tuberculosis and to differentiate it from Crohn's disease. For evaluating Polymerase Chain Reaction (PCR) assay in these two aspects, 36 specimens of intestinal tuberculosis from surgical resections and endoscopic biopsies and 26 Crohn's disease samples were su...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1995-03-01 00:00:00
abstract:: ...
journal_title:Chinese medical journal
pub_type: 社论
doi:10.4103/0366-6999.247217
更新日期:2018-12-20 00:00:00
abstract:BACKGROUND:Chronic kidney disease (CKD) is a growing public health problem with well-established risk factors. Other contributing factors, however, remain to be identified. Systemic inflammation in asthma plays a significant role in the development of other diseases. We therefore initiated a study to assess whether the...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:Some esophageal cancer patients complicated with depression exhibit cognitive impairments. Frontal electroencephalogram (EEG) may be used as a reliable biomarker for prefrontal-mediated cognitive functions. This study was to investigate alterations of EEG and frontal cognitive impairment in esophageal cancer...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.211552
更新日期:2017-08-05 00:00:00
abstract::In 16 dogs the endothelium of the left anterior descending coronary artery was injured mechanically. Then a copper wire was inserted into the lumen as a choke of flow and the vessel was slightly compressed from outside by a constrictor. Eight dogs had been treated beforehand with a preparation of flavone extracted fro...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1991-09-01 00:00:00
abstract::Temporary arterial occlusion during intracranial aneurysm surgery is a safe and effective modality. It is not only an emergency measure for controlling aneurysmal bleeding, but also a helpful means for accurate and meticulous dissection and clipping of an intracranial aneurysm with the advantage of minimizing the chan...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1993-11-01 00:00:00
abstract::To understand the mechanism of hemorrhage, coagulation and fibrinolysis in epidemic hemorrhagic fever (EHF), thrombin time (TT), prothrombin time (PT), fibrinogen (FIG), the platelet count (PLAT), plasminogen (PLG), antithrombin-III (AT-III), fibrin-fibrinogen degraded products (FDP) and platelet functions of aggregat...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1990-05-01 00:00:00
abstract:OBJECTIVE:To study the prevalence of skin positivity to purified protein derivative (PPD) in human immunodeficiency virus (HIV)-infected patients in Hong Kong. METHODS:Consecutive clients of an HIV clinic were administered the PPD test and 2 units of PPD-RT23 were used. The area of induration was then measured in 48 t...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-07-01 00:00:00
abstract::Serial cerebrospinal fluid immunoglobulin parameters were determined with the method of single radial immunodiffusion in 419 cases of 20 kinds of neurological diseases. The results were compared with the normal values of 36 subjects of corresponding ages and statistically analyzed. The authors believe that the elevate...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1989-03-01 00:00:00
abstract:OBJECTIVE:To review the development of T follicular helper (TFH) cells and their role in systemic lupus erythematosus (SLE) pathogenesis, the effect of dendritic cells (DCs) on TFH cells in SLE, as well as the potential use of TFH cells as a new therapeutic target in clinical practice. DATA SOURCES:The data used in th...
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:The safety and efficacy of drug-eluting stents (DES) implantation in unprotected left main (LM) bifurcation lesions has yet to be determined. The aim of the present report was to evaluate the long-term outcome following implantation of DES in unprotected LM bifurcation lesions. METHODS:We identified 70 cons...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2007-04-05 00:00:00
abstract:BACKGROUND:Sacroiliac (SI) screw fixation is a demanding technique, with a high rate of screw malposition due to the complex pelvic anatomy. TiRobot™ is an orthopedic surgery robot which can be used for SI screw fixation. This study aimed to evaluate the accuracy of robot-assisted placement of SI screws compared with a...
journal_title:Chinese medical journal
pub_type: 杂志文章,随机对照试验
doi:10.4103/0366-6999.217080
更新日期:2017-11-05 00:00:00
abstract:OBJECTIVE:To review the progress of cardiac differentiation and electrophysiological characteristics of bone marrow mesenchymal stem cells. DATA SOURCES:The databases of PubMed, Springer Link, Science Direct and CNKI were retrieved for papers published from January 2000 to January 2012 with the key words of "bone marr...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:Preoperative incisional local anaesthesia with ropivacaine is a common method of providing post-laparoscopy pain relief. The pulmonary recruitment manoeuvre also provides pain relief, but the combined effect of these two methods on pain following laparoscopic procedures has not been reported. We investigated...
journal_title:Chinese medical journal
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2014-01-01 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
pub_type: 杂志文章
doi:
更新日期:2013-07-01 00:00:00
abstract:OBJECTIVE:Physiologic cardiac pacing is a novel technique which has been largely popularized in recent decades. His bundle pacing (HBP) has been long considered the most physiologic pacing method; however, with the widespread implementation of this method, its disadvantages have become apparent. In this context, left b...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.1097/CM9.0000000000000038
更新日期:2019-01-20 00:00:00
abstract:OBJECTIVE:5-Fluorouracil (5-FU)-based combination therapies are standard treatments for gastrointestinal cancer, where the modulation of autophagy is becoming increasingly important in offering effective treatment for patients in clinical practice. This review focuses on the role of autophagy in 5-FU-induced tumor supp...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.4103/0366-6999.176069
更新日期:2016-02-20 00:00:00
abstract:BACKGROUND:We assessed whether the CaNa2 EDTA could improve the accumulation of protoporphyrin IX (PpIX) and photosensitisation in HEp-2 cells as well as the depth of treatment of skin cancers on the topical 5-Aminolaevulinic acid (5-ALA) PDT. METHODS:HEp-2 cells were incubated with 5-ALA (0-1 mmol/L) and CaNa2EDTA (0...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2004-06-01 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:BACKGROUND:The mortality of stroke patients is strongly affected by medical complications. However, there are limited data investigating the effect of in-hospital medical complications on the dependency of stroke patients worldwide. We prospectively and systematically investigated the effect of medical complications on...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-04-01 00:00:00
abstract:Objective:Since the advent of induced pluripotent stem cell (iPSC) technology a decade ago, enormous progress has been made in stem cell biology and regenerative medicine. Human iPSCs have been widely used for disease modeling, drug discovery, and cell therapy development. In this review, we discuss the progress in app...
journal_title:Chinese medical journal
pub_type: 杂志文章,评审
doi:10.4103/0366-6999.228231
更新日期:2018-04-05 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2000-06-01 00:00:00
abstract:OBJECTIVE:To explore the mechanism of cisplatin resistance and its reversion in human ovarian cancer. MATERIALS AND METHODS:A cisplatin resistant cell subline of SKOV3, SKOV3/cp, was established, and a xenograft mice model of human ovarian cancer was established by microencapsulation technology. Various biochemical ch...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1996-05-01 00:00:00
abstract:BACKGROUND:This study was to examine the expression of total vascular endothelial growth factor (VEGF) and the anti-angiogenic VEGF 165 b isoform in the vitreous body of retinopathy of prematurity (ROP) patients, and to further study the role of the VEGF splicing in the development of ROP. METHODS:This was a prospecti...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.164937
更新日期:2015-09-20 00:00:00
abstract::An outbreak of viral central nervous system infection occurred from May to September, 1991 in Shanghai, China. Totally 376 cases were admitted into our hospital, 54% with encephalitis and 46% with meningoencephalitis. Echovirus type 30 was isolated from CSF and stools of the patients. Only 3 of the patients were under...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1993-10-01 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::The protective effect of improving the microcirculation on the retinal ganglion cells (RGC) and the ultrastructure of the optic nerve after intravenous (i.v.) use of Salviae miltiorrhiza (SMR) was studied in a chronic intraocular hypertension model in 36 rabbits. These rabbits were treated with topical 0.5% timolol, o...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1993-12-01 00:00:00
abstract:BACKGROUND:Our previous studies have shown that regulatory factor X5 (RFX5), a classical transcription regulator of MHCII genes, was obviously overexpressed in hepatocellular carcinoma (HCC) tumors. However, the role of RFX5 in the carcinogenesis and progress of HCC remains unknown. This study aimed to reveal its biolo...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.1097/CM9.0000000000000296
更新日期:2019-07-05 00:00:00