Phenotypes
Mostrando 1-12 de 5858 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. High prevalence of serological weak D phenotype and preponderance of weak D type 4.0.1. genetic variant in a Nigerian population: implications for transfusion practice in a resource-limited setting
ABSTRACT Introduction: Prevalence of RhD negative phenotype in Nigeria is low; this leads to scarcity of RhD negative red cells for transfusion. Serological and molecular genotyping of RhD negative individuals for weak D types could reduce this scarcity. The aim of this study was to determine the serological prevalence and molecular types of weak D phenotyp
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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3. Frequency of Rh and K antigens in blood donors in Riyadh
ABSTRACT Objectives: Investigate the prevalence of Rh and the K antigens and their phenotypes in the red blood cells of blood donors in Riyadh, Saudi Arabia. Methods: This is a retrospective study. The five principal Rh antigens (D, C, c, E, e) and the Kell antigen from the Kell blood group were tested in 4,675 random samples collected from four blood bank
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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4. Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY
SUMMARY Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic forms of diabetes mellitus with distinct clinical features. Clinical dermatological phenotypes in MODY patients are very rare in literature. This report describes a patient with HNF1A-MODY presenting with necrobiosis lipoidica (NL) and granuloma annulare (GA). A 39-year
Archives of Endocrinology and Metabolism. Publicado em: 2022
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5. Quantitative assessment of emphysema and bronchial wall thickness in patients with stable chronic obstructive pulmonary disease: comparison between the eosinophilic and non-eosinophilic phenotypes
Resumo Objetivo: Avaliar quantitativamente o escore de enfisema e o espessamento da parede brônquica de pacientes com doença pulmonar obstrutiva crônica (DPOC) estável e comparar os fenótipos eosinofílico e não eosinofílico. Materiais e Métodos: Estudo observacional, transversal, retrospectivo, que avaliou pacientes com DPOC no período de agosto
Radiologia Brasileira. Publicado em: 2022
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6. Patients with fibromyalgia present different pain phenotypes compared to patients with generalized pain
RESUMO JUSTIFICATIVA E OBJETIVOS Fibromialgia e dor generalizada representam um problema de saúde global e são distúrbios musculoesqueléticos distintos, mas há uma sobreposição na apresentação clínica entre essas condições. Entretanto, nenhum estudo comparou as características da dor entre os pacientes com estas condições. Portanto, o present
BrJP. Publicado em: 2022
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7. Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia
ABSTRACT Objectives: Alkaline phosphatase (ALP) is the main laboratory marker of hypophosphatasia (HPP), a rare disease unknown to most physicians. The prevalence of HPP has been widely discussed in the literature due to the diverse phenotypes of HPP. The purpose of this study was to search for patients with hypophosphatasemia based on previous biochemistry
Arch. Endocrinol. Metab.. Publicado em: 2021-06
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8. Inborn Errors of Immunity: how to diagnose them?
Abstract Objectives: Inborn Errors of Immunity are characterized by infectious conditions and manifestations of immune dysregulation. The diversity of clinical phenotypes can make it difficult to direct the laboratory investigation. This article aims to update the investigation of immunological competence in the context of primary defects of the immune syst
J. Pediatr. (Rio J.). Publicado em: 2021-04
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9. Inborn errors of immunity associated with characteristic phenotypes
Abstract Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the las
J. Pediatr. (Rio J.). Publicado em: 2021-04
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10. Transcatheter Interatrial Shunts for the Treatment of Heart Failure with Preserved Ejection Fraction
Abstract Heart failure with preserved ejection fraction (HFpEF) is a clinical syndrome, which accounts for about 50% of patients with heart failure (HF). The morbidity and mortality associated with HFpEF is similar to HFrEF. Clinical trials to date have failed to show a benefit of medical therapy for HFpEF, which may due to lack of uniform phenotypes and het
Int. J. Cardiovasc. Sci.. Publicado em: 2021-02
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11. Inherited epidermolysis bullosa: update on the clinical and genetic aspects,
Abstract Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermo
An. Bras. Dermatol.. Publicado em: 2020-10
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12. 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