Phenotypes Analysis
Mostrando 1-12 de 1609 artigos, teses e dissertações.
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1. Growth phenotypes of very low birth weight infants for prediction of neonatal outcomes from a Brazilian cohort: comparison with INTERGROWTH
Abstract Objective: To assess the predictive value of selected growth phenotypes for neonatal morbidity and mortality in preterm infants < 30 weeks and to compare them with INTERGROWTH-21st (IG21). Methods: Retrospective analysis of data from the Brazilian Neonatal Research Network (BNRN) database for very low birth weight (VLBW) at 20 public tertiary-care
Jornal de Pediatria. Publicado em: 2023
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2. Modulation of Wnt/β-catenin signaling in IL-17A-mediated macrophage polarization of RAW264.7 cells
Macrophages play pivotal roles in host defense and immune homeostasis, which have two major functional polarization states, the classically activated M1 and the alternatively activated M2. Interleukin (IL)-17A is an immune modulator able to shape macrophage phenotypes. Wnt/β-catenin is a developmental signaling pathway that plays crucial roles in morphogene
Braz J Med Biol Res. Publicado em: 2020-08
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3. Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese family
Abstract We report on the genetic analysis of a Chinese family in which four male patients presented with postlingual progressive hearing loss, associated with distal muscle wasting and unsteady ataxic gait. Using whole exome sequencing, we identified a new pathogenic variant (c.1463C>T, p.Pro488Leu) in the AIFM1 gene, which encodes the apoptosis-inducing fa
Genet. Mol. Biol.. Publicado em: 14/11/2019
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4. Caracterização de pelagens em equinos da raça Campolina
RESUMO Desde tempos remotos, a pelagem é valorizada no agronegócio equestre. Em animais Campolina, objetivou-se avaliar a ocorrência de pelagens e a distribuição entre sexos nos estados do Brasil, assim como verificar a frequência desse fenótipo nos acasalamentos e associá-lo com medidas lineares e qualidade da marcha. Foram selecionados 44.437 regis
Arq. Bras. Med. Vet. Zootec.. Publicado em: 10/10/2019
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5. Metabolic phenotypes of obese, overweight, and normal weight individuals and risk of chronic kidney disease: a systematic review and meta-analysis
ABSTRACT Objective Chronic kidney disease (CKD) risk is inconsistent in the normal-weight, overweight, and obese individuals due to the heterogeneity of metabolic status. This meta-analysis aimed to examine the combined effects of body mass index (BMI) and metabolic status on CKD risk. Materials and methods The MEDLINE, EMBASE, and Web of Knowledge datab
Arch. Endocrinol. Metab.. Publicado em: 29/07/2019
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6. Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize
Arch. Endocrinol. Metab.. Publicado em: 29/07/2019
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7. Geographic altitude and prevalence of underweight, stunting and wasting in newborns with the INTERGROWTH-21st standard
Resumo Objetivo: Avaliar a prevalência e os riscos de recém-nascidos abaixo do peso, baixa estatura e emaciação por idade gestacional da Província de Jujuy, Argentina, em diferentes níveis de altitude. Métodos: Recém-nascidos vivos (n = 48.656) nascidos entre 2009 e 2014 em instalações públicas entre 24+0-42+6 semanas de idade gestacional. Os fe
J. Pediatr. (Rio J.). Publicado em: 01/07/2019
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8. X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
RESUMO Objetivo: Descrever pacientes com diferentes formas de adrenoleucodistrofia ligada ao X: pré-sintomática, adrenoleucodistrofia inflamatória desmielinizante cerebral, adrenomieloneuropatia e insuficiência adrenal primária. Métodos: Dados específicos relacionados a epidemiologia, fenótipo, diagnóstico e tratamento de 24 pacientes com adreno
Rev. paul. pediatr.. Publicado em: 19/06/2019
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9. Polymorphism in the interleukin-10 gene is associated with overactive bladder phenotype associated with HTLV-1 infection
Abstract INTRODUCTION Human T-cell lymphotropic virus type 1 (HTLV-1)-associated inflammatory diseases are not well understood; however, their clinical manifestations may be influenced by the host genetic background. METHODS We genotyped 298 individuals with HTLV-1 and 380 controls for interleukin-10 (IL10) gene variants-rs3024496, rs1800871, rs1800896-a
Rev. Soc. Bras. Med. Trop.. Publicado em: 30/05/2019
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10. Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
Abstract Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated theprotein–protein interaction (PPI) network within the critical chromosomal region 5p15.3–p15.2 associated with CdCs using syste
Genet. Mol. Biol.. Publicado em: 11/04/2019
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11. Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies
Abstract The clinical as well as biochemical and genetic spectrum of peroxisomal diseases has markedly increased over the last few years, thanks to the revolutionary advances in the field of genome analysis and several -omics technologies. This has led to the recognition of novel disease phenotypes linked to mutations in previously identified peroxisomal gen
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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12. Latent class analysis of attention and white matter correlation in children with attention-deficit/hyperactivity disorder
This study aimed to explore attentional patterns among children with inattentive attention-deficit/hyperactivity disorder (ADHD-I) and children with typical development (TD), using a latent class analysis (LCA). Patterns of brain connectivity were also explored. The sample comprised 29 ADHD-I and 29 TD matched children. An LCA was conducted to reclassify sub
Braz J Med Biol Res. Publicado em: 04/10/2018