0000000000455214

AUTHOR

Joaquin Donat

showing 6 related works from this author

Complex rearrangement of chromosomes 6 and 11 as the sole anomaly in atypical teratoid/rhabdoid tumors of the central nervous system.

2000

Atypical teratoid/rhabdoid tumor of the central nervous system is a rare childhood tumor with a distinct histologic appearance and an aggressive clinical course. Few tumors have been analyzed cytogenetically. The only consistent chromosomal abnormality identified in some of these tumors has been monosomy or deletions of chromosome 22; in others, a normal chromosome 22 was present. The authors report an atypical teratoid/rhabdoid neoplasm of the central nervous system with a novel complex rearrangement affecting chromosomes 6 and 11 as the sole anomaly. The involvement of region 11p15 could be important in the pathogenesis of this entity.

Cancer ResearchMonosomymedicine.medical_specialtyPathologyCentral nervous systemBiologyTranslocation GeneticCentral nervous system diseaseCentral Nervous System NeoplasmsGeneticsmedicineHumansRing ChromosomesChildMolecular BiologyIn Situ Hybridization FluorescenceRhabdoid TumorGeneticsChromosome Aberrationsmedicine.diagnostic_testChromosomes Human Pair 11CytogeneticsTeratomaGene rearrangementmedicine.diseaseTeratoid tumormedicine.anatomical_structureKaryotypingChromosomes Human Pair 6FemaleChromosome 22Fluorescence in situ hybridizationCancer genetics and cytogenetics
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Serum malondialdehyde in HIV-seropositive children negatively correlates with CD4+ lymphocytes count.

1998

Human immunodeficiency virus (HIV) infection is associated with oxidative stress as it has been demonstrated in adult-seropositive individuals. We show in this study that serum malondialdehyde (MDA) concentration of HIV-infected children was significantly higher than in control children. A negative correlation (r = -0.515) was found in HIV-infected children between their CD4+ lymphocyte count, and MDA concentration but not with serum antioxidant status. The increase of MDA concentration in HIV-seropositive children confirms the involvement of oxidative stress in the pathophysiology of this infection also in childhood. Because of the importance of oxidative stress and antioxidants for HIV vi…

MaleAntioxidantHiv seropositivemedicine.medical_treatmentLymphocyteClinical BiochemistryBiologymedicine.disease_causeBiochemistrychemistry.chemical_compoundReference ValuesHIV SeronegativityMalondialdehydeHIV SeropositivitymedicineAdjuvant therapyHumansChildGeneral MedicineMalondialdehydePathophysiologyCD4 Lymphocyte CountOxidative Stressmedicine.anatomical_structurechemistryViral replicationChild PreschoolImmunologyMolecular MedicineRegression AnalysisFemaleOxidative stressBiomarkersBioFactors (Oxford, England)
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Serum Malondialdehyde in HIV Seropositive Children

1998

Human immunodeficiency virus (HIV) infection is associated with oxidative stress as it has been demonstrated in adult seropositive individuals. We show in this study that serum malondialdehyde (MDA) concentration of HIV infected children was significantly higher than in control children. Moreover, a statistically significant decreased serum antioxidant status was detected in HIV infected children when compared with controls. No correlation was found in HIV infected children between their clinical or immunological categories, CD4+ lymphocyte count or CD4+/CD8+ ratio, and MDA concentration or serum antioxidant status. Newborn from HIV seropositive mothers had also a higher MDA concentration i…

MaleAdolescentLymphocyteBirth weightCD4-CD8 RatioCD4-CD8 Ratiomedicine.disease_causeBiochemistryAntioxidantschemistry.chemical_compoundMalondialdehydePhysiology (medical)HIV SeropositivitymedicineHumansChildbusiness.industryInfant NewbornInfantGestational ageMalondialdehydePathophysiologyCD4 Lymphocyte CountOxidative Stressmedicine.anatomical_structurechemistryChild PreschoolCord bloodImmunologyFemalebusinessOxidative stressFree Radical Biology and Medicine
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Iron deficiency risk factors in infants at one year: A cross-sectional study

1985

A cross-sectional study was performed to assess the relative importance of well-known risk factors for iron deficiency in one-year-old children and to detect new ones. Serum ferritin, erythrocyte protoporphyrin and haemoglobin were used as diagnostic tools to screen for iron deficiency. Epidemiologic analysis of data included measures of association, potential impact and a log-linear model to obtain adjusted measures. Socioeconomic variables show a strong association with iron deficiency (low income, odds ratio = 5.07, UCL = 16.08, LCL = 1.60; unemployed father, odds ratio = 4.16, UCL = 14.94, LCL = 1.16; emigration, odds ratio = 9.14, UCL = 54.56, LCL = 1.53). Some errors in feeding practi…

Low incomemedicine.medical_specialtyPotential impactPediatricsbusiness.industryCross-sectional studyObstetricsIron deficiencyOdds ratiomedicine.diseaseCow milkPediatrics Perinatology and Child HealthEpidemiologyMedicinebusinessSocioeconomic statusEuropean Paediatric Haematology and Oncology
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Anaemia during pregnancy as a risk factor for infant iron deficiency: report from the Valencia Infant Anaemia Cohort (VIAC) study.

1990

A prospective cohort study with a 1-year follow-up of 156 neonates was carried out specifically designed to test the hypothesis that there is a positive relationship between iron deficiency during pregnancy and the development of the same disease in newborn infants. Exposure was defined as being born of a mother with ferropenic anaemia at delivery, and cases as the infants who developed iron deficiency during their first year of life. A statistically significant positive association was detected with an odds ratio of 6.57 (95% confidence limits 1.81-25.97). A stratified analysis was also performed to control the effect of potential confounders such as socio-economic variables, feeding pract…

Pediatricsmedicine.medical_specialtyEpidemiologyAnemiaCohort StudiesPregnancyRisk FactorsmedicineHumansProspective StudiesRisk factorProspective cohort studyPregnancyAnemia Hypochromicbusiness.industryIron deficiencyPregnancy Complications HematologicInfantIron deficiencyOdds ratioIron Deficienciesmedicine.diseaseSpainData Interpretation StatisticalPediatrics Perinatology and Child HealthCohortMedicina Preventiva y Salud PúblicaFerritinsInfant anaemiaFemalebusinessCohort studyCohort studyPaediatric and perinatal epidemiology
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Immunohistochemical Study as a Tool in Differential Diagnosis of Pediatric Malignant Rhabdoid Tumor

2010

Malignant rhabdoid tumors (MRTs) are aggressive childhood neoplasms, occurring mainly in the kidney and brain. We describe 2 unusual cases of extrarenal and noncranial location (liver and soft tissue with dissemination) mimicking hepatoblastoma, neuroblastoma or Ewing sarcoma. Both cases revealed a polyphenotypic profile, combined with cytokeratin, vimentin, and CD99 expression. INI1/BAF-47 showed negative protein nuclear expression in both cases, suggesting a diagnosis of MRT. An extensive immunohistochemical panel was performed to exclude pediatric tumors reminiscent of MRT. The genetic studies failed to detected MYCN amplification, 11q23 deletion, and EWS break-apart positivity. No alter…

HepatoblastomaPathologymedicine.medical_specialtySkin NeoplasmsHistologyDesmoplastic small-round-cell tumorChromosomal Proteins Non-HistoneCD9912E7 AntigenN-Myc Proto-Oncogene ProteinPathology and Forensic MedicineDiagnosis DifferentialNeoplasms Multiple PrimaryFatal OutcomeAntigens CDNeuroblastomaAntineoplastic Combined Chemotherapy ProtocolsmedicineHumansVimentinRhabdoid TumorChromosome AberrationsOncogene ProteinsN-Myc Proto-Oncogene Proteinbusiness.industryLiver NeoplasmsInfant NewbornInfantNuclear ProteinsWilms' tumorSMARCB1 Proteinmedicine.diseaseImmunohistochemistryDNA-Binding ProteinsMedical Laboratory TechnologyDrug Resistance NeoplasmKeratinsFemaleSarcomaRNA-Binding Protein EWSDifferential diagnosisbusinessCell Adhesion MoleculesTranscription FactorsApplied Immunohistochemistry & Molecular Morphology
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