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Beristain-Manterola R.,National Autonomous University of Mexico | Sanchez-Escobar O.A.,National Autonomous University of Mexico | Cuevas-Covarrubias S.A.,Genetica
e-SPEN | Year: 2010

Background & aims: People with the highest risk of iron deficiency are infants, teenagers and pregnant women. Iron deficiency has negative effects on physical and psychomotor development and has high impact on the productive life and on the development of a country. The aim of this study was to determine iron state in healthy six-month-old infant Mexican patients. Methods: The analysis was held in 205 subjects in an observational and descriptive study. We included infants at term with good health, no acute or chronic diseases at least in the 4 previous weeks and with any type of feeding. We evaluated the birth weight, gain weight and iron status of infants at the age of six months. Laboratory studies included blood hemoglobin (Hb), mean cell volume (MCV), red blood cell distribution width (RDW), transferrin saturation (TS) and ferritin. Results: Birth weight and gain weight were acceptable in 94.1%. Iron deficiency was detected in 44.9% and anaemia secondary due to iron deficiency was present in 19.5%. Multiple linear regression analysis showed that exclusive breast-fed correlated with iron deficiency (rp = -0.167, p < 0.020). Conclusions: High prevalence of iron deficiency and secondary anaemia, two important public health problems, were present in children during the first months of life in the analyzed sample. © 2010 European Society for Clinical Nutrition and Metabolism. Source

Gomez-Carballa A.,University of Santiago de Compostela | Cerezo M.,University of Santiago de Compostela | Heredia C.,University of Santiago de Compostela | Castro-Feijoo L.,University of Santiago de Compostela | And 10 more authors.
PLoS ONE | Year: 2011

Background: There are several known autosomal genes responsible for Ras/MAPK pathway syndromes, including Noonan syndrome (NS) and related disorders (such as LEOPARD, neurofibromatosis type 1), although mutations of these genes do not explain all cases. Due to the important role played by the mitochondrion in the energetic metabolism of cardiac muscle, it was recently proposed that variation in the mitochondrial DNA (mtDNA) genome could be a risk factor in the Noonan phenotype and in hypertrophic cardiomyopathy (HCM), which is a common clinical feature in Ras/MAPK pathway syndromes. In order to test these hypotheses, we sequenced entire mtDNA genomes in the largest series of patients suffering from Ras/MAPK pathway syndromes analyzed to date (n = 45), most of them classified as NS patients (n = 42). Methods/Principal Findings: The results indicate that the observed mtDNA lineages were mostly of European ancestry, reproducing in a nutshell the expected haplogroup (hg) patterns of a typical Iberian dataset (including hgs H, T, J, and U). Three new branches of the mtDNA phylogeny (H1j1, U5b1e, and L2a5) are described for the first time, but none of these are likely to be related to NS or Ras/MAPK pathway syndromes when observed under an evolutionary perspective. Patterns of variation in tRNA and protein genes, as well as redundant, private and heteroplasmic variants, in the mtDNA genomes of patients were as expected when compared with the patterns inferred from a worldwide mtDNA phylogeny based on more than 8700 entire genomes. Moreover, most of the mtDNA variants found in patients had already been reported in healthy individuals and constitute common polymorphisms in human population groups. Conclusions/Significance: As a whole, the observed mtDNA genome variation in the NS patients was difficult to reconcile with previous findings that indicated a pathogenic role of mtDNA variants in NS. © 2011 Gómez-Carballa et al. Source

Cemeli-Cano M.,Hospital Universitario Miguel Servet | Pena-Segura J.L.,Hospital Universitario Miguel Servet | Fernando-Martinez R.,Hospital Universitario Miguel Servet | Izquierdo-Alvarez S.,Genetica | And 2 more authors.
Revista de Neurologia | Year: 2014

Introduction. Legius syndrome is an autosomal dominant disorder caused by the mutation in the SPRED1 gene involving a negative regulator of the RAS-MAPK pathway, similar to neurofibromin and therefore shows some clinical similarities to neurofibromatosis type I (NF1) but less severe. These patients have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, dysmorphic features, lipomas, and mild learning disabilities. However, this syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules or tumor predisposition. Case report. We present a 10 months child, without a personal interest history, consulting by hypotonic extremities, cafeau-lait spots and mild psychomotor difficult. Mother's sister and grandfather have some cafe-au-lait spots. In our patient, NF1 genetic study was negative, but we observe a mutation in the SPRED1 gene, compatible with Legius syndrome. Asymptomatic mother shows the same mutation in SPRED1 gene. Conclusion. We emphasize the relevance of the differential diagnosis of NF1 with respect to numerous complications to appear, with a better prognosis recently described entity as it is Legius syndrome. © 2014 Revista de Neurología. Source

Morey M.,Fundacion Publica Galega de Medicina Xenomica | Castro-Feijoo L.,University of Santiago de Compostela | Barreiro J.,University of Santiago de Compostela | Cabanas P.,University of Santiago de Compostela | And 25 more authors.
BMC Medical Genetics | Year: 2011

Background: Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3(1,25(OH)2D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. The purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical diagnosis of HR, to perform genotype-phenotype correlations of those patients and to compare our data with other HR cohort studies.Methods: Forty three affected individuals from 36 non related families were analyzed. For the genetic analysis, the PHEX gene was sequenced in all of the patients and in 13 cases the study was complemented by mRNA sequencing and Multiple Ligation Probe Assay. For the genotype-phenotype correlation study, the clinical and biochemical phenotype of the patients was compared with the type of mutation, which was grouped into clearly deleterious or likely causative, using the Mann-Whitney and Fisher's exact test.Results: Mutations in the PHEX gene were identified in all the patients thus confirming an XLHR. Thirty four different mutations were found distributed throughout the gene with higher density at the 3' end. The majority of the mutations were novel (69.4%), most of them resulted in a truncated PHEX protein (83.3%) and were family specific (88.9%). Tubular reabsorption of phosphate (TRP) and 1,25(OH)2D serum levels were significantly lower in patients carrying clearly deleterious mutations than in patients carrying likely causative ones (61.39 ± 19.76 vs. 80.14 ± 8.80%, p = 0.028 and 40.93 ± 30.73 vs. 78.46 ± 36.27 pg/ml, p = 0.013).Conclusions: PHEX gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies. Patients with clearly deleterious PHEX mutations had lower TRP and 1,25(OH)2D levels suggesting that the PHEX type of mutation might predict the XLHR phenotype severity. © 2011 Morey et al; licensee BioMed Central Ltd. Source

Lloveras E.,Genetica | Vendrell T.,Genetica | Fernandez A.,Genetica | Castells N.,Genetica | And 5 more authors.
Cytogenetic and Genome Research | Year: 2014

Very few cases of constitutional interstitial deletions of the proximal short arm of chromosome 3 have been reported; however, the proximal 3p deletion is emerging as a clinically recognizable syndrome. We present an intrachromosomal insertion of 3p12.3p14.1 in a phenotypic normal man (46,XY,ins(3)(p25p12.3p14.1)) which is responsible for the unbalanced karyotype in 2 affected offspring, one with a 3p12.3p14.1 interstitial deletion and the other with a reciprocal duplication. The exceptionality of these 2 reciprocal recombinants contributes to a better definition of the proximal 3p deletion syndrome and its duplication counterpart. © 2015 S. Karger AG, Basel. Source

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