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1. |
Heart-Fatty Acid-Binding Protein as a Marker for Early Detection of Acute Myocardial Infarction and Stroke |
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Molecular Diagnosis,
Volume 9,
Issue 1,
2005,
Page 1-7
Pierre Lescuyer,
Laure Allard,
Denis F Hochstrasser,
Jean-Charles Sanchez,
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摘要:
Heart-fatty acid-binding protein (H-FABP) is a small cytosolic protein involved in intracellular fatty acid transport. This protein, highly concentrated in the heart, is quickly released into plasma after myocardial injury. Results from numerous studies suggest that H-FABP is an excellent marker for the early detection of myocardial damage. H-FABP is also expressed in the brain, although in lower concentrations than in the heart. Recent preliminary studies also investigated the usefulness of H-FABP for the diagnosis of acute and chronic neurological disorders. These potential applications of H-FABP in clinical practice are reviewed in this article, with a strong focus on the early diagnosis of acute myocardial infarction and stroke.
ISSN:1084-8592
出版商:ADIS
年代:2005
数据来源: ADIS
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2. |
Paraoxonase 1-192Q Allele is a Risk Factor for Idiopathic Chronic Pancreatitis |
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Molecular Diagnosis,
Volume 9,
Issue 1,
2005,
Page 9-15
Mariette Verlaan,
Erik G A Harbers,
Akos Pap,
Jan B M J Jansen,
Wilbert H M Peters,
Joost P H Drenth,
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摘要:
BackgroundThe cause of chronic pancreatitis (CP) remains unknown. However, oxidative stress might play a role since recent animal studies have demonstrated that oxygen-free radicals contribute to the pathogenesis of experimental pancreatitis. Human serum paraoxonase (PON1) is an antioxidant enzyme that protects against cellular damage from oxidative stress. Genetic variations resulting in variable activity rates of this enzyme, are of toxicological and physiological importance.AimWe investigated whether genetic polymorphisms of thePON1gene modify the risk for CP.Materials and methodsDNA samples were obtained from 236 adult CP patients of hereditary (n = 23), alcoholic (n = 137), or idiopathic (n = 76) origin. DNA from 113 healthy controls and from 93 alcoholic controls were analyzed for comparison. Patients and controls were all of Caucasian origin. Genetic polymorphisms (L55MandQ192R) inPON1were determined by PCR, followed by restriction fragment length polymorphism analyses in all subjects.ResultsThe frequencies of the PON1-55 alleles did not differ between CP patients and healthy controls. However, the PON1-192Q allele was significantly more common in idiopathic CP patients (OR : 1.5, 95% CI 1.02, 2.5) compared with healthy controls.ConclusionsThese data suggest that the PON1-192Q allele, resulting in partly deficient antioxidant and detoxification activity of this enzyme, might be a risk factor for idiopathic CP in Caucasians.
ISSN:1084-8592
出版商:ADIS
年代:2005
数据来源: ADIS
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3. |
Molecular Analysis of theP27/Kip1Gene in Breast Cancer |
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Molecular Diagnosis,
Volume 9,
Issue 1,
2005,
Page 17-21
Hatice Tigli,
Nur Buyru,
Nejat Dalay,
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摘要:
BackgroundGenetic polymorphisms and mutations of the genes involved in tumorigenesis may determine individual susceptibility for cancer. The p27/Kip1 protein belongs to the family of cyclin-dependent kinase-inhibitory proteins, which are negative regulators of cell-cycle progression. Reduced protein levels of p27/Kip1 have been reported in numerous human cancers including breast cancer.Methods and resultsp27gene mutations and the codon 109 polymorphism were investigated in breast cancer patients by single strand conformation polymorphism analysis, PCR-restriction fragment length polymorphism analysis and DNA sequencing. Mutations were identified in 2 of 24 breast tumor samples. One G→A transition resulting in a silent mutation and a single base deletion resulting in a nonsense mutation were detected in one patient. Another breast cancer sample harbored a T→A transition at codon 159. An association between the codon 109 B allele and breast cancer was observed.ConclusionOur study indicates that mutational alterations in thep27gene are rare in human breast cancer. The codon 109 B allele is associated with high-grade tumors.
ISSN:1084-8592
出版商:ADIS
年代:2005
数据来源: ADIS
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4. |
Touch-Down Reverse Transcriptase-PCR Detection ofIgVHRearrangement and Sybr-Green-Based Real-Time RT-PCR Quantitation of Minimal Residual Disease in Patients with Chronic Lymphocytic Leukemia |
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Molecular Diagnosis,
Volume 9,
Issue 1,
2005,
Page 23-34
Soňa Peková,
Jana Marková,
Petr Pajer,
Michal Dvořák,
Petr Cetkovský,
Jiří Schwarz,
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摘要:
BackgroundPatients with chronic lymphocytic leukemia (CLL) can relapse even after aggressive therapy and autografts. It is commonly assumed that to prevent relapse the level of minimal residual disease (MRD) should be as low as possible. To evaluate MRD, highly sensitive quantitative assays are needed.AimThe aim of the study was to develop a robust and sensitive method for detection of the clonal immunoglobulin heavy-chain variable (IgVH) rearrangement in CLL and to introduce a highly sensitive and specific methodology for MRD monitoring in patients with CLL who undergo intensive treatment.MethodsAs a prerequisite for MRD detection, touch-down reverse transcriptase (RT)-PCR using degenerate primers were used for the diagnostic identification ofHgene rearrangement(s). For quantitative MRD detection in 18 patients, we employed a real-time RT-PCR assay (RQ-PCR) making use of patient-specific primers and the cost-saving Sybr-Green reporter dye (SG). For precise calibration of RQ-PCR, patient-specificIgVHsequences were cloned.ResultsTouch-down RT-PCR with degenerate primers allowed the successful detection ofIgVHclonal rearrangement(s) in 252 of 257 (98.1%) diagnostic samples. Biallelic rearrangements were found in 27 of 252 (10.7%) cases. Degenerate primers used for the identification of clonal expansion at diagnosis were not sensitive enough for MRD detection. In contrast, our RQ-PCR assay using patient-specific primers and SG reached the sensitivity of 10−6. We demonstrated MRD in each patient tested, including four of four patients in complete remission following autologous hematopoietic stem cell transplantation (HSCT) and three of three following allogeneic ‘mini’-HSCT. Increments in MRD might herald relapse; aggressive chemotherapy could induce molecular remission.ConclusionsOur touch-down RT-PCR has higher efficiency to detect clonalIgVHrearrangements including the biallelic ones. MRD quantitation ofIgVHexpression using SG-based RQ-PCR represents a highly specific, sensitive, and economic alternative to the current quantitative methods.
ISSN:1084-8592
出版商:ADIS
年代:2005
数据来源: ADIS
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5. |
Instability ofTrypanosoma CruziDNA in Blood LysatesImportance for PCR DNA-Based Diagnosis |
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Molecular Diagnosis,
Volume 9,
Issue 1,
2005,
Page 35-40
Ximena Coronado,
Sylvia Ortiz,
Olga Lastra,
Milton Larrondo,
Marlene Rozas,
Aldo Solari,
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摘要:
ObjectiveIn order to evaluate the stability ofTrypanosoma cruzikinetoplast DNA (kDNA), the blood samples from seven patients with Chagas disease were stored in different buffers and at different temperatures.MethodsThree different buffers were used: buffer A, 6 mol/L guanidine-HCl; buffer B, 6M guanidine-HCl and 0.2M EDTA pH 7.5; and buffer C, 6M guanidine-HCl, 0.2M EDTA pH 7.5 and 10μM dl-α-tocopherol (Roche, Basal, Switzerland). Two temperatures were used: 4°C and 25°C. Vitamin E was added to the blood lysates as an antioxidant.T.cruzikDNA was obtained by phenol extraction, and then PCR amplifications and Southern blot were carried out in each DNA sample up to 90 days of blood storage. The iron content of each sample was determined by atomic absorption spectrophotometry.ResultsOverall, there is an association betweenT.cruzikDNA stability and the storage time of blood samples. No significant differences were detected inT.cruzikDNA stability in the presence or absence of vitamin E or with citrate or EDTA as an anticoagulant. There was no statistical difference in the failure of PCR-based kDNA detection with these different storage buffers, temperatures or iron levels.ConclusionsThe blood lysates promoteT.cruzikDNA damage in a time-dependent manner that reduces the ability to detect the genomic DNA of an infectious agent by PCR. The high concentration of guanidine-HCl denatured proteins in these storage conditions probably denotes a non-enzymatic kDNA lysis.
ISSN:1084-8592
出版商:ADIS
年代:2005
数据来源: ADIS
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6. |
Diagnostic Conferences: July 2005–December 2005 |
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Molecular Diagnosis,
Volume 9,
Issue 1,
2005,
Page 41-42
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ISSN:1084-8592
出版商:ADIS
年代:2005
数据来源: ADIS
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7. |
Summary of Recent Deal Activity |
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Molecular Diagnosis,
Volume 9,
Issue 1,
2005,
Page 43-52
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ISSN:1084-8592
出版商:ADIS
年代:2005
数据来源: ADIS
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