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Medical Genetics

Medical Genetics   Research Article

Y chromosome microdeletions in Brazilian fertility clinic patients

Authors: Arruda JT, Bordin BM, Santos PR, Mesquita WEJC, Silva RCPC, Maia MCS, Approbato MS, Florencio RS, Amaral WN, Rocha Filho MA and Moura KKVO

Microdeletions in Yq are associated with defects in spermatogenesis, while those in the AZF region are considered critical for germ cell development. We examined microdeletions in the Y chromosomes of patients attended at the Laboratory of Human Reproduction of the Clinical Hospital of the Federal University of Goiás as.. Read More»

Genet. Mol. Res. 6(2):
Medical Genetics   Research Article

HPLC determination of hemoglobins to establish reference values with the aid of statistics and informatics

Authors: Ondei LS, Zamaro PJA, Mangonaro PH, Valencio CR and Bonini-Domingos CR

The purpose of the present study was to establish reference values for hemoglobins (Hb) using HPLC, in samples containing normal Hb (AA), sickle cell trait without alpha-thalassemia (AS), sickle cell trait with alpha-thalassemia (ASH), sickle cell anemia (SS), and Hb SC disease (SC). The blood samples were analyzed by electrop.. Read More»

Genet. Mol. Res. 6(2):
Medical Genetics   Research Article

Large-scale analysis of factors influencing nonalcoholic fatty liver disease and its relationship with liver enzymes

Authors: W.R. Bi, C.Q. Yang, Q. Shi, Y. Xu, C.P. Cao, J. Ling and X.Y. Wang

Serum liver enzyme levels are often used effectively for the evaluation of nonalcoholic fatty liver disease (NAFLD). We aimed to investigate the associations between serum liver enzyme levels and risks for NAFLD in over 8000 cases in a large-scale analysis. A cross-sectional survey with multiple stages and random samplings was.. Read More»

Genet. Mol. Res. 13(3):
2014.August.7.3
DOI:
10.4238/2014.August.7.3
Medical Genetics   Research Article

Functional characterization of genetic variants in the porcine TLR3 gene

Authors: L. Wang, Y.C. Chen, D.J. Zhang, H.T. Li, D. Liu and X.Q. Yang

Toll-like receptor 3 (TLR3) recognizes double-stranded RNA, which is a molecular signature of viruses, and plays a pivotal role in host defense against viral invasion. Polymorphisms in the human TLR3 gene have been shown to affect the receptor function and to be associated with a variety of diseases, suggesting correlations be.. Read More»

Genet. Mol. Res. 13(1):
http://dx.doi.org/2014.February.28.7
DOI:
http://dx.doi.org/10.4238/2014.February.28.7
Medical Genetics   Research Article

Molecular cytogenetic analysis of a ring-Y infertile male patient

Authors: Carvalho FM, Wolfgramm EV, Degasperi I, Verbeno BM, Vianna BA, Chagas FF, Perroni AMS, Paula F and Louro ID

In the present study, we report on the case of a 43-yearold male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochr.. Read More»

Genet. Mol. Res. 6(1):
Medical Genetics   Research Article

Telomerase activity could be used as a marker for neoplastic transformation in gastric adenocarcinoma: but it does not have a prognostic significance

Authors: Gumux-Akay G, Unal AE, Bayar S, Karadayi K, Elhan AH, Sunguroqlu A and Tukun A

Telomerase activity is responsible for telomere maintenance and is believed to be crucial in most immortal cells and cancer cells; however, its clinicopathological significance in gastric cancer remains to be clarified. The aim of the present study was to assess whether malignant progression of gastric adenocarcinoma correlate.. Read More»

Genet. Mol. Res. 6(1):
Medical Genetics   Research Article

Cloning, sequencing, expression, and antigenic characterization of rMSP4 from Anaplasma marginale isolated from Paran�¡ State, Brazil

Authors: Kawasaki PM, Kano FS, Vidotto O and Vidotto MC

Anaplasmosis is a bovine intraerythrocytic disease caused by the bacterium Anaplasma marginale; it causes significant economic losses in tropical and subtropical regions, worldwide. The msp4 gene of an A. marginale strain isolated in Paraná, Brazil, was amplified by PCR and sequenced; its cloning into the pET102/D-TOPO&.. Read More»

Genet. Mol. Res. 6(1):
Medical Genetics   Research Article

Reason and treatment of failure of proximal femoral nail antirotation internal fixation for femoral intertrochanteric fractures of senile patients

Authors: J.J. Liu, L.C. Shan, B.Y. Deng, J.G. Wang, W. Zhu and Z.D. Cai

The cause of postoperative failure after the treatment of femoral intertrochanteric fracture with proximal femoral nail antirotation (PFNA) was analyzed, and the reoperative methods were examined. Nine failures of 308 femoral intertrochanteric fracture patients with PFNA were treated with femoral prosthesis total hip replaceme.. Read More»

Genet. Mol. Res. 13(3):
2014.August.7.10
DOI:
10.4238/2014.August.7.10
Medical Genetics   Research Article

Bispectral index for monitoring anesthetic depth in patients with severe burns receiving target-controlled infusion of remifentanil and propofol

Authors: Z.G. Guo, X.P. Jia, X.Y. Wang, P. Li, X.J. Su and J.H. Hao

This study evaluated the feasibility and effectiveness of using the bispectral index (BIS) to monitor anesthetic depth in patients with severe burns receiving intravenous target-controlled infusion (TCI) of remifentanil and propofol. We randomly assigned 80 patients undergoing elective escharectomy (<1 week) to BIS (A) and control (B) groups. All patie.. Read More»

Genet. Mol. Res. 14(3):
2015.July.13.3
DOI:
10.4238/2015.July.13.3
Medical Genetics   Research Article

Expression changes in epithelial cell adhesion molecule during colorectal cancer tumorigenesis

Authors: X.B. Chai, R.F. Song and F. Xu

We investigated the relationship between the expression of epithelial cell adhesion molecule (EpCAM) and the occurrence and development of colon cancer. Fifty colon cancer tissues and adjacent normal tissues were collected, while 40 normal intestinal mucosa tissues were collected as the blank group. EpCAM expression was detected by immunohistochemistry an.. Read More»

Genet. Mol. Res. 14(3):
2015.July.13.6
DOI:
10.4238/2015.July.13.6