Diagnosis
Bovine papillomavirus in beef cattle: first description of BPV-12 and putative type BAPV8 in Brazil
Authors: R.P. Araldi, R.F. Carvalho, T.C. Melo, N.S.P. Diniz, T.A. Santâ��Ana, J. Mazzuchelli-de-Souza, D.D. Spadacci-Morena, W. Be�§ak and R.C. Stocco
Bovine papillomavirus (BPV) is an oncogenic virus associated with benign and malignant lesions, which result in notable economic losses. Peripheral blood samples and cutaneous papillomas were obtained from four adult beef cattle. Viral molecular identification was performed using specific primers for BPV-1, -2 and -4 in blood .. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.25.20
- DOI:
- 10.4238/2014.July.25.20
Accuracy of enzyme-linked immunospot assay for diagnosis of pleural tuberculosis: a meta-analysis
Authors: Z.Z. Li, W.Z. Qin, L. Li, Q. Wu and Y.J. Wang
Current methods for diagnosing tuberculous pleurisy are poor. Some studies have explored the diagnostic value of a pleural effusion enzyme-linked immunospot (ELISPOT) assay, but its accuracy remains controversial. Therefore, we performed a meta-analysis of the existing evidence on the ability of the ELISPOT assay to diagnose tuberculous pleurisy. We syste.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.28.19
- DOI:
- http://dx.doi.org/10.4238/2015.September.28.19
First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation
Authors: Kedar PS, Nampoothiri S, Sreedhar S, Ghosh K, Shimizu K, Kanno H and Colah RB
Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by .. Read More»
- Genet. Mol. Res. 6(2):
Post-surgical treatment of a patient with ectopic pheochromocytoma
Authors: C.F. Sheng, R. Wang, B.Y. Liu, H.M. Zhang, M. Fang and X. Zheng
We report here the course and treatment of a patient with ectopic pheochromocytoma. The patient was cured after treatment with respiratory and circulatory support, multiple-organ protection, and continuous renal replacement therapy (CRRT) for approximately 2 weeks. After misdiagnosis, a patient with ectopic pheochromocytoma who is being treated should und.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.20.25
- DOI:
- 10.4238/2015.March.20.25
Increased human epididymis protein 4 in benign gynecological diseases complicated with chronic renal insufficiency patients
Authors: Y.W. Lv, L. Yang, M. Zhang, L.H. Jiang, J.H. Niu, J. Hou and X.H. Cui
We examined the serum concentration of human epididymis protein (HE4) in patients with benign gynecological diseases complicated with chronic renal deficiency and its significance in the differential diagnosis of benign and malignant gynecological diseases. Serum HE4 and cancer antigen 125 concentrations were detected by chemiluminescence. Clinically or p.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.27.2
- DOI:
- 10.4238/2015.March.27.2
Combination of IL-6, IL-10, and MCP-1 with traditional serum tumor markers in lung cancer diagnosis and prognosis
Authors: Y.W. Pan, Z.G. Zhou, M. Wang, J.Q. Dong, K.P. Du, S. Li, Y.L. Liu, P.J. Lv and J.B. Gao
Early detection and treatment is critically important for lung cancer patients. Inflammatory mediators such as IL-6, IL-10, and MCP-1 participate in lung cancer regulation. CEA, CA125, and ProGRP are commonly used serum tumor markers for lung cancer. In this study, we assessed the sensitivity and specificity of CEA, CA125, and.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048949
- DOI:
- 10.4238/gmr15048949
Utilization of different methodologies for the characterization of Hb Hasharon heterozygotes
Authors: A.R. Chinelato-Fernandes, C.F. Mendiburu and C.R. Bonini-Domingos
Hb Hasharon has an electrophoretic mobility similar to that of Hb S in cellulose acetate and a mobility between Hb S and C at acid pH. In high-performance liquid chromatography, Hb Hasharon shows a distinct chromatographic profile and retention time. The origin of this variant is a mutation in codon 47 (GAC → CAC) of the .. Read More»
- Genet. Mol. Res. 5(1):
Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia A in a Korean population.
Authors: S.H. Park, N. Chung, M.R. Lee, S.K. Yoo and Y.M. Choi
To determine the usefulness of MspI/int22h-1 (intron 22 homologous region-1) polymorphism of the factor VIII gene for molecular genetic diagnosis of hemophilia A in the Korean population, MspI/intron 22 and XbaI/intron 22 polymorphisms were analyzed in 101 unrelated Korean families with severe hemophilia A. The expected hetero.. Read More»
- Genet. Mol. Res. 11(1):
- http://dx.doi.org/2012.January.9.1
- DOI:
- http://dx.doi.org/10.4238/2012.January.9.1
Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature
Authors: C.C. Figueiredo, C. Kochi, C.A. Longui, M.N. Rocha, F. Richeti, N.M.A. Evangelista, L.E.P. Calliari and O. Monte
Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better.. Read More»
- Genet. Mol. Res. 7(1):
- vol7-1gmr391
- DOI:
- 10.4238/vol7-1gmr391
Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rg gene novel mutation
Authors: Q.L. Bai, N. Liu, X.D. Kong, X.J. Xu and Z.H. Zhao
We investigated the feasibility of interleukin-2 receptor gamma (IL2Rg) gene based on gene mutation analysis and prenatal diagnosis of X-linked severe combined immunodeficiency (XSCID). Blood samples of patients and their parents of X-SCID (family 1) and X-SCID (family 2) were collected. IL2Rg gene sequences of the 2 families were analyzed using bi-direct.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.June.9.2
- DOI:
- 10.4238/2015.June.9.2