Genetic Screening
Mostrando 1-12 de 835 artigos, teses e dissertações.
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1. Clinical complications in children with false-negative results in cystic fibrosis newborn screening
Abstract Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). Materials and methods: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 – 31
Jornal de Pediatria. Publicado em: 2022
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2. HemoTypeSC point-of-care testing shows high sensitivity with alkaline cellulose acetate hemoglobin electrophoresis for screening hemoglobin SS and SC genotypes
ABSTRACT Introduction: By providing timely actionable results for prompt management, point-of-care testing (POCT) kits have revolutionised medical care for various diseases, ranging from infectious diseases like malaria to genetic disorders, such as sickle cell disease (SCD). They are, however, underutilised in the diagnosis of SCD in developing countries,
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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3. Impact of lifestyle in prostate cancer patients. What should we do?
ABSTRACT Objective: This review aimed to analyze interventions raised within primary and tertiary prevention concerning the disease's incidence, progression, and recurrence of Prostate Cancer (PCa). Priority was given to the multidisciplinary approach of PCa patients with an emphasis on modifiable risk factors. Materials and Methods: We conducted a compreh
International braz j urol. Publicado em: 2022
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4. Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses
Resumo Objetivo Este estudo tem como objetivo descrever o comportamento do rastreamento de cromossomopatias em fetos euploides. Métodos Trata-se de um estudo prospectivo descritivo com 566 pacientes, entre 11 e 14 semanas de gestação. A associação entre a ultrassonografia e as variáveis sorológicas foi estudada. Para as variáveis quantitativas foi
Revista Brasileira de Ginecologia e Obstetrícia. Publicado em: 2022
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5. Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study
Abstract Objective: To explore possible genes related to the development of persistent pulmonary hypertension of the newborn (PPHN). Methods: The authors identified 285 single nucleotide polymorphisms (SNPs) of 11 candidate genes (BMPR2, EPAS1, PDE3A, VEGFA, ENG, NOTCH3, SOD3, CPS1, ABCA3, ACVRL1, and SMAD9), using an Illumina Asian Screening Array-24 v1.0
Jornal de Pediatria. Publicado em: 2022
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6. DFT, Molecular Docking, and ADME/Tox Screening Investigations of Market-Available Drugs against SARS-CoV-2
A series of drugs was investigated to determine structural, electronic and pharmacological properties, as well as the molecular affinity for the main protease of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The drugs were submitted to density functional theory calculations to optimize structures and predict binding preferences. The optimized
J. Braz. Chem. Soc.. Publicado em: 2021-08
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7. Combined immunodeficiencies
Abstract Objectives: Inborn Errors of Immunity (IEI), also known as primary immunodeficiencies, correspond to a heterogeneous group of congenital diseases that primarily affect immune response components. The main clinical manifestations comprise increased susceptibility to infections, autoimmunity, inflammation, allergies and malignancies. The aim of this
J. Pediatr. (Rio J.). Publicado em: 2021-04
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8. Antidepressants, genetic risk, and the prevention of bipolar disorder
Abstract Objective: To understand the current evidence and guidelines behind the appropriate management of cardiac tumours. Methods: A comprehensive electronic literature search has been performed in major databases - PubMed, Embase, Scopus, Ovid, and Google Scholar. All articles that discussed all different forms of cardiac tumours, their clinical present
Braz. J. Psychiatry. Publicado em: 2020-10
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9. Prader-Willi syndrome: endocrine manifestations and management
ABSTRACT Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Patients with PWS develop hypothalamic dysfunction that can lead to various endocrine changes such as: obesity, growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and low bone mineral density.
Arch. Endocrinol. Metab.. Publicado em: 2020-06
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10. Type 2 diabetes as a major risk factor for COVID-19 severity: a meta-analysis
ABSTRACT Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Patients with PWS develop hypothalamic dysfunction that can lead to various endocrine changes such as: obesity, growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and low bone mineral density.
Arch. Endocrinol. Metab.. Publicado em: 2020-06
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11. Megacities, migration and an evolutionary approach to bipolar disorder: a study of Sardinian immigrants in Latin America
Objective: To determine whether people with a Sardinian genetic background who live in the megacities of South America have a higher frequency of hypomania than residents of Sardinia. Methods: A community survey of Sardinian immigrants was carried out in four Brazilian metropoles (n=218) and Buenos Aires (n=306). The results were compared with those of a s
Braz. J. Psychiatry. Publicado em: 2020-02
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12. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and int
Adv. rheumatol.. Publicado em: 13/01/2020