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1.
Chinese Journal of Tissue Engineering Research ; (53): 1774-1780, 2018.
Article in Chinese | WPRIM | ID: wpr-698612

ABSTRACT

BACKGROUND: With the disadvantages of lumbar fusion surgery complications and adjacent vertebral degeneration aggravating against the normal lumbar biomechanical characteristics, lumbar dynamic fixation technology in line with the normal lumbar biomechanics emerges as the times require. Lumbar interspinous distraction system as a representative of lumbar dynamic fixation technique has attracted extensive attentions of the field of spine surgery. OBJECTIVE: To review the current research progress of lumbar interspinous distraction system. METHODS: The first author retrieved in CNKI database and Wanfang database with the key words of "lumbar interspinous distraction device, interspinous distraction system, biomechanics, clinical application, lumbar interspinous distraction system complications", and searched PubMed database and SpringerLink database with the key words of "lumbar spine, interspinous process implant, interspinous devices, biomechanics, clinical application, postoperative complications". Recent studies were included after excluding the repeated studies. Finally, 55 studies were included, with 45 English studies and 10 Chinese studies. RESULTS AND CONCLUSION: (1) Lumbar distraction system core design concept was for expanding the interspinous space in the responsible segment and limiting their activities, which increases the spinal canal and foramen area, reduces intervertebral pressure, relieves nerve compression, can recover segmental stability to a certain degree, but does not significantly impact the motion range of adjacent segments. Simultaneously, it effectively avoids mechanical stimulation to the spinal cord and nerve root by opening the vertebral canal, replaces adjacent segments applied to the responsible section or combined application to fusion segments, and improves clinical symptoms and prevents the occurrence of adjacent vertebra disease. (2) Lumbar interspinous distraction device can effectively reduce stress load of intervertebral disc and small articular process, and maintain motion range of the corresponding segment. However, stress of the implant itself and upper and lower spinous process of the treated segments increases, warning that there is an increased risk of fracture of spinous process and fatigue fracture of the implant. (3) All kinds of lumbar interspinous distraction device have good clinical effect in short and medium follow-up. (4) The clinical curative effect of the distraction device can be comparable to spine fusion surgery. It is operated under local anesthesia, has small trauma, short operation time, quick recovery, short hospitalization time, less complications after surgery, retains lumbar motion range and prevents adjacent vertebral disease. Nevertheless, the device has some disadvantages, such as high medical cost, high revision rate, and inaccurate clinical effect.

2.
Chinese Journal of Hepatology ; (12): 821-825, 2015.
Article in Chinese | WPRIM | ID: wpr-303224

ABSTRACT

<p><b>OBJECTIVE</b>To observe the clinical efficacy of combination therapy with peg-IFNalpha and adefovir (CPIA) in women who were hepatfis B virus (HBV) carriers and had just given birth and received telbivudine (LdT) during pregnancy for prevention of mother-to-child transmission.</p><p><b>METHODS</b>One-hundred-and-fifty third trimester-pregnant women who were HBV carriers with highly-viremic were treated with LdT until time of birth. After delivery, those women with alanine aminotransferase (ALT) level exceeding two times the upper limit of normal and HBV DNA level that had decreased more than 31 gIU/mL or hepatitis B e antigen (HBeAg) titer that had decreased more than 50% were switched to CPIA for 96 weeks.</p><p><b>RESULTS</b>Following delivery, 45 of the women were switched to the CPIA treatment, of which 91.1% (41/45) achieved virological response, 55.6% (25/45) achieved HBeAg clearance or seroconversion, and 26.7% (12/45) achieved hepatitis B surface antigen (HBsAg) clearance or seroconversion.The immediate post-delivery (and pre-CPIA) levels of HBeAg and HBV DNA were negatively associated with HBeAg clearance. Ninety-eight of the total study participants stopped the LdT treatment and there were no cases of significant deterioration of liver function.</p><p><b>CONCLUSION</b>Pregnant women who are HBV carriers and receive LdT for protection against mother-to-child transmission, and who show significant ALT elevation and decreased HBeAg titer and/or reduced HBV DNA after delivery, may be good candidates for the CPIA therapy following delivery.</p>


Subject(s)
Female , Humans , Pregnancy , Adenine , Therapeutic Uses , Alanine Transaminase , Blood , Antiviral Agents , Therapeutic Uses , Carrier State , Virology , DNA, Viral , Blood , Drug Therapy, Combination , Hepatitis B Surface Antigens , Blood , Hepatitis B e Antigens , Blood , Hepatitis B, Chronic , Drug Therapy , Infectious Disease Transmission, Vertical , Interferon-alpha , Therapeutic Uses , Organophosphonates , Therapeutic Uses , Polyethylene Glycols , Therapeutic Uses , Pregnancy Complications, Infectious , Drug Therapy , Virology , Pregnancy Trimester, Third , Recombinant Proteins , Therapeutic Uses , Thymidine , Therapeutic Uses
3.
Chinese Journal of Hepatology ; (12): 895-898, 2013.
Article in Chinese | WPRIM | ID: wpr-252303

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the effects of pegylated interferon a-2a (Peg-INFa-2a) treatment on expression of CD8 and CD38 surface molecules on lymphocytes from peripheral blood of inactive hepatitis B surface antigen (HBsAg) carriers.</p><p><b>METHODS</b>Forty-four patients with hepatitis B virus (HBV) chronic infection (CHB) received a 48-week course of Peg-INFa-2a treatment, with 30 administered 135 mug/week and 14 administered 180 mug/week. Every 12 weeks of treatment, the subjects were assessed for HBsAg titer, presence of anti-hepatitis B e (HBe) antibody, serum alanine amino transaminase (ALT) levels, and lymphocyte surface expression of CD8 and CD38 molecules. Patients were classified as responders and non-responders according to standard parameters. Dynamic differences between the two groups over time were assessed by multivariate repeated measures ANOVA with Greenhouse-Geisser correction and differences at single time points were assessed by univariate ANOVA. Linear regression analysis was performed to evaluate the relationship of two variables.</p><p><b>RESULTS</b>The responders showed a significantly higher increase in ALT at week 12 (60.75+/-24.95 U/L vs. non-responders: 37.03+/-18.45 U/L; t = 2.905, P less than 0.01) and significantly higher proportion of CD8+CD38+ cells at week 24 (71.20+/-11.70% vs. non-responders: 56.79+/-7.72%; F = 23.941, P less than 0.01). The decline in level of HBsAg at week 24 was positively correlated with the increase in ALT level at week 12 (r = 0.386, P less than 0.01) and with expression levels of CD8 and CD38 molecules on lymphocytes at week 24 (r = 0.397, P less than 0.01).</p><p><b>CONCLUSION</b>Lower baseline levels of HBsAg correlated to better Peg-INFa-2a-related HBsAg clearance. Increased expression of CD8 and CD38 on lymphocytes is suggestive of intensive cellular immunity in CHB patients and may be related to HBV-induced hepatocyte damage and may promote the HBsAg clearance.</p>


Subject(s)
Adult , Aged , Humans , Middle Aged , ADP-ribosyl Cyclase 1 , Metabolism , Antiviral Agents , Therapeutic Uses , CD8-Positive T-Lymphocytes , Carrier State , Hepatitis B Surface Antigens , Blood , Hepatitis B, Chronic , Blood , Drug Therapy , Interferon-alpha , Therapeutic Uses , Polyethylene Glycols , Therapeutic Uses , Recombinant Proteins , Therapeutic Uses , T-Lymphocyte Subsets
4.
Chinese Journal of Hepatology ; (12): 498-501, 2013.
Article in Chinese | WPRIM | ID: wpr-278049

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the efficacy and safety of an extended course (96-week) of combination treatment with peginterferon alfa-2a (Peg-IFNa-2a; 40 kd] plus adefovir (ADV) for treating chronic hepatitis B (CHB) in Chinese patients with negativity for hepatitis B e antigen (HBeAg).</p><p><b>METHODS</b>A total of 25 consecutive patients with HBeAg-negative CHB were administered Peg-IFNa-2a (135-180 mug/week) plus ADV (10 mg/day) for 96 weeks. All patients were followed-up for 24 weeks after treatment completion. Levels of hepatitis B virus (HBV) DNA and hepatitis B surface antigen (HbsAg) were measured by fluorescence quantitative polymerase chain reaction (FQ-PCR) and chemiluminescent microparticle immunoassay, respectively, at 12-week intervals throughout the treatment course and at the end-of-follow-up (week 120). Patients underwent serological analysis at 3-6 month intervals during treatment and follow-up to evaluate occurrence of adverse events; serological parameters included blood count, markers of liver, kidney and thyroid function, and levels of autoantibodies and creatine kinase.</p><p><b>RESULTS</b>For all patients, the 96-week course of Peg-IFNa-2a plus ADV reduced the level of HBV DNA below the detection threshold (less than 500 copies/ml by FQ-PCR). The overall rate of HBsAg seroconversion was 12% (3/25) at week 48, 28% (7/25) at week 96, and 32% (8/25) at week 120. The occurrences of adverse events were similar at week 48 and week 96.</p><p><b>CONCLUSION</b>The extended-course Peg-IFNa-2a plus ADV combination therapy achieved a 100% virological response and better rates of HBsAg seroconversion than 48 weeks of therapy, without a decrease in safety.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Adenine , Therapeutic Uses , Antiviral Agents , Therapeutic Uses , Drug Therapy, Combination , Hepatitis B e Antigens , Hepatitis B, Chronic , Drug Therapy , Interferon-alpha , Therapeutic Uses , Organophosphonates , Therapeutic Uses , Polyethylene Glycols , Therapeutic Uses , Recombinant Proteins , Therapeutic Uses , Treatment Outcome
5.
Chinese Medical Journal ; (24): 4328-4333, 2012.
Article in English | WPRIM | ID: wpr-339845

ABSTRACT

<p><b>BACKGROUND</b>Intraoperative magnetic resonance imaging (iMRI) dates back to the 1990s and has been successfully applied in neurosurgery but they were low-field iMRI (< 1.0T). This paper reports the clinical experience with a 3T iMRI-integrated neurosurgical suite in Huashan Hospital, Shanghai, China.</p><p><b>METHODS</b>From September 2010 through March 2012, 373 consecutive patients underwent neurological surgery under guidance with 3T iMRI. A retrospective analysis was conducted regarding clinical efficiency.</p><p><b>RESULTS</b>All surgery in the 373 patients was safe. The ratio of gross total resection for cerebral gliomas (n = 161) was increased from 55.90% to 87.58%. The ratio of benefit in extent of resection was 39.13%. One hundred and fifty eight of the 161 glioma patients accomplished follow-up at 3 months postoperatively. Twenty of 161 patients (12.42%) suffered from early motor deficit after surgery. Late motor deficit was however observed in five of 158 patients (3.16%). Twenty-one of 161 patients (13.04%) had early speech deficit and late speech deficit was only observed in six of 158 patients (3.80%). The ratio of gross total resection for pituitary adenomas (n = 49) was increased from 77.55% to 85.71%. The ratio of benefit in extent of resection was 10.2%. There were no iMRI-related adverse events even for patients who underwent awake craniotomy.</p><p><b>CONCLUSION</b>The 3T iMRI integrated neurosurgical suite provides high-quality intraoperative structural and functional imaging for real-time tumor resection control and accurate functional preservation, resulting in an improvement in maximal safe brain surgery.</p>


Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Brain Neoplasms , General Surgery , China , Glioma , General Surgery , Magnetic Resonance Imaging , Methods , Neurosurgical Procedures , Methods
6.
Chinese Medical Journal ; (24): 4497-4503, 2012.
Article in English | WPRIM | ID: wpr-331347

ABSTRACT

<p><b>OBJECTIVE</b>To review the history, development, and reality of neuronavigation surgery in China and to discuss the future of neuronavigation surgery.</p><p><b>DATA SOURCES</b>PubMed, the China Knowledge Resource Integrated Database, and the VIP Database for Chinese Technical Periodicals were searched for papers published from 1995 to the present with the key words "neuronavigation," functional navigation," "image-guided," and "stereotaxy." Articles were reviewed for additional citations, and some information was gathered from Web searches.</p><p><b>STUDY SELECTION</b>Articles related to neuronavigation surgery in China were selected, with special attention to application to brain tumors.</p><p><b>RESULTS</b>Since the introduction of neurosurgical navigation to China in 1997, this core technique in minimally invasive neurosurgery has seen rapid development. This development has ranged from brain structural localization to functional brain mapping, from static digital models of the brain to dynamic brain-shift compensation models, and from preoperative image-guided surgery to intraoperative real-time image-guided surgery, and from application of imported equipment and technology to use of equipment and technology that possess Chinese independent intellectual property rights.</p><p><b>CONCLUSIONS</b>The development and application of neuronavigation techniques have made neurological surgeries in China more safe, precise and effective, and less invasive, and promoted the quality of Chinese neurosurgical practice to the rank of the most advance and excellence in the world.</p>


Subject(s)
Animals , Humans , Brain , Pathology , China , Neuronavigation , Methods , Neurosurgical Procedures , Methods
7.
Chinese Journal of Surgery ; (12): 683-687, 2011.
Article in Chinese | WPRIM | ID: wpr-285664

ABSTRACT

<p><b>OBJECTIVE</b>To report the preliminary experience in clinical application of 3.0 T intraoperative magnetic resonance imaging (iMRI) neuronavigation system in China.</p><p><b>METHODS</b>From September 2010 to March 2011, a consecutive series of 122 patients with intracranial lesions underwent operations in guidance with 3.0 T iMRI. A retrospective analysis was conducted regarding clinical efficiency.</p><p><b>RESULTS</b>Among 122 procedures, the numbers of intraoperative scanning were 2 - 4 times with an average of 2.6. The qualities of images were excellent. Due to the discovery and further possibility of resection of residual tumors, the ratio of gross total resection was increased from 71.7% to 90.0% in cerebral gliomas (n = 60), while from 75.9% to 93.1% in macroadenomas (n = 29). There were 6.7% of all patients occurred postoperative paralysis, but only 3.3% of patients had persistent paralysis at 1 - 2 months follow-up. There was no iMRI-related adverse event occurred. During the same period, more than 2500 patients underwent diagnostic MRI scanning.</p><p><b>CONCLUSIONS</b>3.0 T iMRI neuronavigation system provides high-quality intraoperative structural, functional and metabolic images for real time tumor resection control and accurate functional preservation, resulting in an improvement in maximal safe brain surgery. The system is cost-effective.</p>


Subject(s)
Adolescent , Adult , Aged , Child , Female , Humans , Male , Middle Aged , Young Adult , Brain Neoplasms , General Surgery , Glioma , General Surgery , Magnetic Resonance Imaging , Neuronavigation , Methods , Pituitary Neoplasms , General Surgery , Retrospective Studies
8.
Chinese Journal of Surgery ; (12): 693-698, 2011.
Article in Chinese | WPRIM | ID: wpr-285662

ABSTRACT

<p><b>OBJECTIVES</b>To evaluate preliminary clinical experience for combining awake craniotomy and intraoperative language brain mapping within the integrated 3.0 T intraoperative magnetic resonance imaging (iMRI) suite.</p><p><b>METHODS</b>From December 2010 to April 2011, 11 right hand-dominant patients with left glioma were involved in, or adjacent to, eloquent cortex was carried out awake craniotomies with cortical stimulation within an integrated 3.0 T iMRI suite. Aphasia battery of Chinese was used to test the language function before the operation. During the procedure, after the occipital, temporal, and supraorbital nerves were blocked by the anesthesiologists, the head was fixed with a custom high-field MRI-compatible head holder. The skull and dura was opened as usual and language brain mapping was then performed. Language testing followed a set protocol: counting numbers from 1 to 50, naming objects, reading single words. Resection of the tumor was guided by neuronavigation system and continued until eloquent areas were encountered or the margin of assessment was reached. An interdissection MRI was acquired to evaluate the glioma removal in a movable MRI scanner after minimal draping. Meanwhile, adverse effects caused by electrical stimulation and iMRI were recorded. The follow-up speech tests were assessed on 7th day and 1 month at least after the operation.</p><p><b>RESULTS</b>The combined use of 3.0 T iMRI and awake craniotomy was performed safely in all patients. No adverse effects were reported. The duration of surgery was prolonged by 2 to 4 h. The patients' perception of iMRI during surgery was favorable. First-look MRI studies led to further resection attempts in 6/11 cases as well as a 3/11 increase in the number of gross-total resections. One week after surgery, baseline language function worsened in 4 cases. However, no patients had a persistent language deficit one month after surgery.</p><p><b>CONCLUSIONS</b>Awake craniotomy and direct cortical electrical stimulation can be performed safely and effectively within a 3.0 T iMRI suite. The combination of high-field iMRI and awake craniotomy may facilitate safe removal of eloquent glioma.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Anesthesia , Methods , Brain Neoplasms , General Surgery , Cerebral Cortex , General Surgery , Craniotomy , Methods , Glioma , General Surgery , Magnetic Resonance Imaging , Monitoring, Intraoperative , Neuronavigation , Methods , Wakefulness
9.
Chinese Medical Journal ; (24): 2569-2577, 2011.
Article in English | WPRIM | ID: wpr-292842

ABSTRACT

The treatment of gliomas is highly individualized. Surgery for gliomas is essentially for histological diagnosis, to alleviate mass effect, and most importantly, to favor longer survival expectancy. During the past two decades, many surgical techniques and adjuvants have been applied to glioma surgery in China, which lead to a rapid development in the field of cerebral glioma surgery. This article broadly and critically reviewed the existing studies on cerebral glioma surgery and to portrait the current status of glioma surgery in China. A literature search was conducted covering major innovative surgical techniques and adjuvants for glioma surgery in China. The following databases were searched: the Pubmed (January 1995 to date); China Knowledge Resource Integrated Database (January 1995 to date) and VIP Database for Chinese Technical Periodicals (January 1995 to date). A selection criterion was established to exclude duplicates and irrelevant studies. The outcome measures were extracted from included studies. A total of 3307 articles were initially searched. After excluded by abstracts and full texts, 69 studies conducted in the mainland of China were included and went through further analysis. The philosophy of surgical strategies for cerebral gliomas in China is undergoing tremendous change. Nowadays Chinese neurosurgeons pay more attention to the postoperative neurofunctional status of the patients. The aim of the glioma surgery is not only the more extensive tumor resection but also the maximal safety of intervention. The well balance of longer overall survival and higher quality of life should be judged with respect to each individual patient.


Subject(s)
Humans , China , Glioma , Pathology , General Surgery , Magnetic Resonance Imaging , Neurosurgery
10.
Chinese Journal of Experimental and Clinical Virology ; (6): 27-29, 2008.
Article in Chinese | WPRIM | ID: wpr-254151

ABSTRACT

<p><b>OBJECTIVE</b>To characterize the variation in V3 loop of HIV-1 B'strains circulating in Chinese blood donors.</p><p><b>METHODS</b>The c2-c3 regions of the HIV envelop gene were amplified by nest-PCR from 32 HIV-1-infected blood donors in He Nan province in China. The BIOEDIT and MEGA software are used to analyze the sequences of V3 loop.</p><p><b>RESULTS</b>There are five types of central motifs of the 32 samples, in which GPGR and GPGQ are most common. More variations associated with T tropic/SI phenotype can be seen in AIDS group.</p><p><b>CONCLUSION</b>The V3 tip motifs of HIV-1B' strains circulating in Chinese blood donors are various, the different characterization of V3 loop between AIDS and asymptomatic patients indicates different biological phenotype and pathogenesis which warrant additional investigation.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Amino Acid Motifs , Amino Acid Sequence , Blood Donors , China , Genetic Variation , Genetics , HIV Envelope Protein gp120 , Chemistry , Genetics , HIV Infections , Blood , Virology , HIV-1 , Chemistry , Classification , Genetics , Molecular Sequence Data , Oligopeptides , Chemistry , Phenotype
11.
Chinese Medical Journal ; (24): 1972-1977, 2006.
Article in English | WPRIM | ID: wpr-273378

ABSTRACT

<p><b>BACKGROUND</b>This study was aim to explore the characteristics of phenotypic resistance of resistant strains of HIV type-1 (HIV-1) subtype B and to compare the concordance between the phenotypic resistance and genotypic resistance.</p><p><b>METHODS</b>The genotypic resistance assay for the HIV-1 clinical isolates was performed. One isolate without resistance mutation was chosen as a drug-sensitive reference strain and seven subtype B isolates with resistance mutations were phenotypically tested. Fifty percent inhibitory concentrations (IC50) between resistant and sensitive viruses were compared. The resistance extent was determined by the folds of the increased IC50. The concordance between the phenotypic resistance and genotypic resistance was also analyzed.</p><p><b>RESULTS</b>IC50 of resistant isolates were 0.0006 - 0.1300 micromol/L for zidovudine (AZT), 0.0016 - 0.0390 micromol/L for lamivudine (3TC), 0.0104 - 0.4234 micromol/L for nevirapine (NVP), and 0.0163 - 0.1142 micromol/L for indinavir (IDV), respectively. Genotypic and phenotypic resistance assays indicated that the resistant strains were intermediately and highly resistant to nucleotide analog reverse transcriptase inhibitors and non-nucleotide analog reverse transcriptase inhibitors. The phenotypic assay was consistent with the genotypic assay. For measuring the potential resistance, the genotypic assay was more sensitive than the phenotypic. In evaluating the resistance to protease inhibitors, these two assays were discrepant.</p><p><b>CONCLUSIONS</b>Both the phenotypic and genotypic assays indicate that the resistant viruses exist in HIV-infected patients in China who have received treatment. Phenotypic and genotypic assays have high concordance, and the genotypic assay could replace the phenotypic assay to predict the HIV-1 resistance.</p>


Subject(s)
Humans , Anti-Retroviral Agents , Pharmacology , China , Drug Resistance, Viral , Genetics , HIV-1 , Genetics , Mutation , Phenotype
12.
Chinese Journal of Medical Genetics ; (6): 327-329, 2005.
Article in Chinese | WPRIM | ID: wpr-280058

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the polymorphism distribution of the PCOL2 and Sp1 binding sites of the collagen type I alpha 1(COL1A1) gene in Chinese population and explore their relationship with congenital dislocation of the hip (CDH).</p><p><b>METHODS</b>The PCOL2 polymorphism (-1997 G/T) in COL1A1 promoter and the Sp1 polymorphism (1546 G/T) in intron 1 were genotyped in 243 members from 81 CDH nuclear family trios by the technique of polymerase chain reaction-restriction fragment length polymorphism, and then transmission disequilibrium test was used to analyze the data of genotypes.</p><p><b>RESULTS</b>No statistically significant association was observed between CDH and PCOL2 polymorphism. Significant differences of genotype and allele frequency distributions were detected between the Chinese population and the Caucasian population in Spain, and between the Chinese population and the Caucasian population in America. The allele at the Sp1 site that has been found to be polymorphic in other populations was not found in Chinese.</p><p><b>CONCLUSION</b>There exists racial difference in the distribution of the PCOL2 and Sp1 polymorphisms of COL1A1 gene. The results suggest that the PCOL2 and Sp1 polymorphisms may not be the major susceptibility gene of CDH in Chinese population.</p>


Subject(s)
Female , Humans , Male , Asian People , Genetics , Binding Sites , China , Collagen Type I , Genetics , Genetic Predisposition to Disease , Genetics , Hip Dislocation , Ethnology , Genetics , Linkage Disequilibrium , Polymorphism, Genetic , Genetics
13.
Chinese Journal of Medical Genetics ; (6): 79-81, 2005.
Article in Chinese | WPRIM | ID: wpr-321153

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the molecular basis of infantile Alexander disease in a Chinese patient, which may yield useful information for further genetic counseling.</p><p><b>METHODS</b>DNA sequencing analysis and restriction endonuclease analysis were used to detect the mutation of glial fibrillary acidic protein (GFAP) gene in a patient with clinically diagnosed Alexander disease, in her parents and in 50 healthy controls.</p><p><b>RESULTS</b>A 249C>T (R79C) mutation was identified in the exon 1 of the GFAP gene but not in her parents and the controls.</p><p><b>CONCLUSION</b>The study on mutation of GFAP gene in Chinese patients with Alexander disease has never been reported previously. The mutation analysis of GFAP gene can provide valuable information for the diagnosis of Alexander disease and can serve as a reliable method of prenatal diagnosis for the family.</p>


Subject(s)
Child, Preschool , Female , Humans , Alexander Disease , Diagnosis , Genetics , Base Sequence , China , DNA Mutational Analysis , Genetic Predisposition to Disease , Glial Fibrillary Acidic Protein , Genetics , Mutation , Polymerase Chain Reaction
14.
Chinese Journal of Medical Genetics ; (6): 251-253, 2005.
Article in English | WPRIM | ID: wpr-321114

ABSTRACT

<p><b>OBJECTIVE</b>To further investigate the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL) and provide useful information for the prevention and treatment of the disease.</p><p><b>METHODS</b>RT-PCR and cDNA sequencing were used to test mRNA expression of SEDL gene in a patient with 13 bp deletion of SEDL gene involving the acceptor splice site of intron 5.</p><p><b>RESULTS</b>Of two different sizes of mRNA products identified in the patient, the 393 bp product was created due to the activation of cryptic splice site within exon 6; the 433 bp product was completely consistent with the part of genomic sequence on chromosome 8.</p><p><b>CONCLUSION</b>The intragenic deletion that occurred in the acceptor splice site of the 3'region of intron 5 and the 5' coding region of exon 6 results in the activation of a cryptic splice site within exon 6, which causes 47 bp deletion of the resulting mRNA followed by a frameshift that would add two missense amino acids and then be followed by a termination codon (D109-S123del; S124fsX126). In addition, the mutation may activate the transcription of pseudogene SEDLP2 on chromosome 8 to partly complement the function of SEDL protein.</p>


Subject(s)
Adolescent , Humans , Male , Base Sequence , Chromosomes, Human, Pair 8 , Genetics , DNA Mutational Analysis , Exons , Genetics , Genetic Diseases, X-Linked , Genetics , Pathology , Introns , Genetics , Membrane Transport Proteins , Genetics , Mutation , Osteochondrodysplasias , Genetics , Pathology , RNA Splice Sites , Genetics , Reverse Transcriptase Polymerase Chain Reaction , Transcription Factors , Genetics
15.
Chinese Journal of Medical Genetics ; (6): 309-311, 2004.
Article in Chinese | WPRIM | ID: wpr-328889

ABSTRACT

<p><b>OBJECTIVE</b>To investigate further the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL).</p><p><b>METHODS</b>Single strand conformation polymorphism (SSCP) combined with polymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to detect the mutation for the coding exons of SEDL gene as well as their exon/intron boundaries in 5 unrelated Chinese boys clinically diagnosed as having SEDL. DNA sequencing analysis was further used to identify the mutation.</p><p><b>RESULTS</b>The 13 bp deletion mutation consisting of IVS5-2-1delAG and 322-332del TTTTCAATGAA was identified in one of SEDL patients, but not detected in 30 chromosomes from 30 unrelated normal male individuals.</p><p><b>CONCLUSION</b>This is a novel mutation cosegregated with the patient's skeletal disease. The intragenic deletion occurred in the acceptor splice site of the 3' region of intron 5 and the 5' coding region of exon 6, which may result in one or a combination of splicing defects. The results of this study expand the spectrum of SEDL mutations associated with SEDL, and this will help to elucidate further the role of this novel protein in the etiology of this form of osteochondrodysplasia.</p>


Subject(s)
Adolescent , Child , Humans , Male , Membrane Transport Proteins , Genetics , Mutation , Osteochondrodysplasias , Genetics , Polymerase Chain Reaction , Polymorphism, Single-Stranded Conformational , Sequence Analysis, DNA , Sequence Deletion , Transcription Factors , Genetics
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