Research Article

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12/02/2016
Cesarean section; Chromosomes, Human, Pair 14; Cytogenetic Analysis; Female; Humans; Infant, Newborn; Intensive Care Units, Neonatal; Limb Deformities, Congenital; male; Mosaicism; Pregnancy; Trisomy

Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal ... more

M.A. Rodrigues; L.F. Morgade; L.F.A. Dias; R.V. Moreira; P.D. Maia; A.F.H. Sales; P.D. Ribeiro
12/19/2016
Aged; Asian People; Case-control studies; Female; Genetic predisposition to disease; Humans; Interleukin-10; male; Middle Aged; Polymorphism, Single Nucleotide; Regression Analysis; Stomach neoplasms

We conducted a case-control study to investigate the association between the interleukin-10 (IL-10) C819T polymorphism and susceptibility to gastric cancer in a Chinese population. A total of 157 patients with gastric cancer and 249 controls were consecutively enrolled from the Guizhou Provincial People's Hospital between October 2012 and February 2015. The polymerase chain reaction- ... more

L. Li; X.Y. Tang; L.M. Ye; Q. Yang; Y. Li
12/19/2016
Aged; Asian People; Carcinoma, Non-Small-Cell Lung; China; Female; Genetic predisposition to disease; Humans; Interferon-gamma; Interleukin-18; Lung Neoplasms; male; Middle Aged; Polymorphism, Single Nucleotide; Tumor necrosis factor-alpha

Lung cancer is one of the main causes of cancer-related mortality in males and females worldwide. A pleiotropic effect has been observed in the interleukin 18 gene (IL18); its effects include the activation of natural killer cell cytotoxicity and the promotion of the Th1 immune response through the alteration of the expression of interferon-γ and TNF-α in humans. IL18 is therefore involved in ... more

W.Y. Gan; H.M. Li; Y.G. Zhang; C.M. Li; Y. Wang
12/19/2016
Adult; Aromatase; Asian People; Case-control studies; Endometriosis; Female; Genetic predisposition to disease; Genotype; Glutathione S-Transferase pi; Glutathione transferase; Humans; Polymorphism, Single Nucleotide; Young Adult

Endometriosis is a common, complicated, and highly heterogeneous endocrine disease. Many genetic factors could affect the development of endometriosis. We performed a case-control study to evaluate the association between polymorphisms in CYP19A1 rs2899470, GSTM1, GSTT1, and GSTP1 rs1695 and the development of endometriosis in a Chinese population. Between March 2014 and October 2015, 262 ... more

Y. Tuo; J.Y. He; W.J. Yan; J. Yang
12/19/2016
Adult; Aggrecans; Asian People; Case-control studies; Female; Genetic predisposition to disease; Humans; Intervertebral disc degeneration; Intervertebral Disc Displacement; male; Middle Aged; Minisatellite Repeats; Young Adult

We investigated the association between an aggrecan gene (ACAN) polymorphism and lumbar disc herniation (LDH). This was a case-control study with quinquennial age and gender groups. The study comprised 119 men and women aged between 20 and 60 from Goiânia (Brazil). Of these, 39 were allocated to the case group (Ca) and 80 to the control group (Ct). We gathered sociodemographic and clinical ... more

N.L.L. Casa; A.J.Casa Junior; A.V. Melo; L.S. Teodoro; G.R. Nascimento; A.F. Sousa; T.C. Flausino; D. Brito; R. Bergamini; L.B. Minasi; A.D. da Cruz; T.C. Vieira; M.P. Curado
12/19/2016
Adult; Aged; Apoptosis; Bone neoplasms; Caspase 8; Cell proliferation; Cell survival; Female; Gene Expression Regulation, Neoplastic; Humans; male; Middle Aged; Osteochondroma; Osteosarcoma; TNF-Related Apoptosis-Inducing Ligand; Tumor Cells, Cultured; Young Adult

Osteosarcoma is a common malignant bone tumor that mainly affects children and adolescents. Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) is a member of the tumor necrosis factor superfamily. Caspase-8 appears in the upstream of apoptosis signaling pathway among caspases. We investigated TRAIL and caspase-8 levels in osteosarcoma patients to determine their correlation with ... more

X. Ning; X.W. Shang; Y. Zhuang; M. Liu; H. Yang; H. Zhang; M.Z. Huang
12/19/2016
Adult; China; Female; Fetal Growth Retardation; Folic acid; Folic Acid Deficiency; Gestational age; Homocysteine; Humans; Infant, Newborn; Pregnancy; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult

Deficiencies in nutrients such as folic acid and vitamin B12 may play a role in fetal growth restriction (FGR). However, whether folic acid, vitamin B12, or homocysteine is associated with FGR in Chinese populations remains unclear. This study investigated the relationship between these nutrient deficiencies and FGR in pregnant Chinese women. We selected 116 mother and infant pairs, and ... more

H.L. Jiang; L.Q. Cao; H.Y. Chen
12/19/2016
Aged; Alcohol Dehydrogenase; Aldehyde Dehydrogenase, Mitochondrial; Asian People; Cytochrome P-450 CYP2E1; Female; Genetic predisposition to disease; Genotype; Humans; Logistic Models; male; Middle Aged; Polymorphism, Genetic; Stomach neoplasms

Gastric cancer is the fourth commonly diagnosed cancer and the second most frequent cause of cancer death worldwide. Genetic variations in ADH1B and ALDH2 may alter the function and activity of the corresponding enzymes, leading to differences in acetaldehyde exposure between drinkers. Cytochrome P4502E1 (CYP4502E1) is a phase I enzyme that plays an important role in metabolizing nitrosamine ... more

Z.H. Chen; J.F. Xian; L.P. Luo
12/19/2016
Adult; Arginine; Asian People; Case-control studies; Collagen Type IX; Female; Genetic predisposition to disease; Glutamine; Humans; Intervertebral disc degeneration; Intervertebral Disc Displacement; male; Middle Aged; Mutation

Intervertebral disc disease is a multifactorial condition, yet disease pathogenesis that can be promoted by a single dominant mutation affecting the expression of susceptibility genes. We performed a case-control study to assess the influence of the COL9A2 Gln326Arg polymorphism on risk of intervertebral disc disease in a Chinese population. Between March 2014 and March 2015, a total of 215 ... more

T. Meng; Q. Ren; J.M. Wang; H. Shi; S.T. Zhang; M.T. Liu
12/19/2016
Adult; Arthritis, Rheumatoid; Female; Genetic predisposition to disease; Hand; Hand Injuries; Humans; Interleukin-6; male; Mexico; Middle Aged; Polymorphism, Single Nucleotide

Several interleukin 6 gene (IL6) polymorphisms are implicated in susceptibility to rheumatoid arthritis (RA). It has not yet been established with certainty if these polymorphisms are associated with the severe radiographic damage observed in some RA patients, particularly those with the development of joint bone ankylosis (JBA). The objective of the present study was to evaluate the ... more

S.A. Zavaleta-Muñiz; L. Gonzalez-Lopez; J.D. Murillo-Vazquez; A.M. Saldaña-Cruz; M.L. Vazquez-Villegas; B.T. Martín-Márquez; J.C. Vasquez-Jimenez; F. Sandoval-Garcia; A.J. Ruiz-Padilla; N.S. Fajardo-Robledo; J.M. Ponce-Guarneros; A.D. Rocha-Muñoz; M.F. Alcaraz-Lopez; D. Cardona-Müller; S.E. Totsuka-Sutto; E.D. Rubio-Arellano; J.I. Gamez-Nava

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