Research Article

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Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe ( ... more

A. Alonzo-Rojo; J.E. García-Ortiz; M. Ortiz-Aranda; M.P. Gallegos-Arreola; L.E. Figuera-Villanueva
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The coronary arteriosclerotic disease is the most common cardiovascular disease. Atherosclerosis affects large- and medium-sized arteries leading to severe thrombosis or artery stenosis that could evolve to myocardial infarction, ischemic stroke, ischemic injury of kidneys and intestines, and several other life-threatening clinical manifestations. Nitric oxide has been shown to be a promising ... more

A.M. Barbosa; K.S.F. Silva; M.H. Lagares; D.A. Rodrigues; I.R. da Costa; M.P. Morais; J.V.M. Martins; R.S. Mascarenhas; F.L. Campedelli; K.K.V.O. Moura
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Acyclic Monoterpenes; DNA damage; Hep G2 Cells; Humans; Monocytes; Terpenes

Geraniol is an acyclic monoterpene alcohol present in the essential oil of many aromatic plants and is one of the most frequently used molecules by the flavor and fragrance industries. The literature also reports its therapeutic potential, highlighting itself especially as a likely molecule for the development of drugs against cancer. In view of these considerations, this study was designed to ... more

T.B. Queiroz; G.F. Santos; S.C. Ventura; C.A. Hiruma-Lima; I.O.M. Gaivão; E.L. Maistro
Down syndrome; Heart Defects, Congenital; Humans; Infant; Karyotype; Klinefelter syndrome; male

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B ... more

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Ecuador; Gene frequency; Humans; Microsatellite Repeats; Polymorphism, Genetic; Population

One hundred and eighty-two samples of unrelated people who requested the paternity test at the Molecular Biology and Genetics Laboratory of the Catholic University of Cuenca-Ecuador in the province of Azuay were studied, except for the D1S1656 (180 samples) and SE33 (89 samples) markers. The STRs D22S1045, D3S1358, VWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01, FGA, D1S1656, ... more

P.P. Orellana; C.F. Andrade; C.L. Arciniegas; G.C. Iannacone