Genetic Testing
Mostrando 1-12 de 592 artigos, teses e dissertações.
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1. 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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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. Hemophagocytic lymphohistiocytosis: presentation and outcome of twenty-one patients at a single institution
ABSTRACT Introduction: Hemophagocytic lymphohistiocytosis comprises a systemic hyperactivation of macrophages that requires prompt recognition of symptoms and early treatment. Objective and Method: In this context, we described clinical and laboratory characteristics, therapeutic modality and outcome of 21 patients with HLH treated at a pediatric oncology
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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4. 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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5. Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil
ABSTRACT Objective: The aim of this cross-sectional study was to estimate the prevalence of XLH in Paraná, a state in southern Brazil, and report the clinical features and complications of the disease. Materials and methods: We invited all endocrinologists (n = 205), nephrologists (n = 221), orthopedic surgeons (n = 1020), and pediatricians (n = 1000) in
Arch. Endocrinol. Metab.. Publicado em: 2020-12
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6. Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
Abstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be n
Int. J. Cardiovasc. Sci.. Publicado em: 2020-07
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7. Avance genético y políticas de anonimato
Resumo Nos últimos anos, o número de tratamentos de reprodução assistida com doação de gametas (óvulos e/ou espermatozoides) aumentou na Argentina. A filiação por técnicas de reprodução assistida heteróloga interroga a tradicional “herança sanguínea”, objeto de estudo privilegiado das ciências sociais. Nas últimas décadas, o paradigma d
Rev. Bioét.. Publicado em: 10/01/2020
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8. Post-neurosurgical meningitis caused by KPC-producing Klebsiella pneumoniae: report of two cases
ABSTRACT Nosocomial bacterial infections caused by carbapenem-resistant Klebsiella pneumoniae (CRKP) is associated with high mortality in neurosurgical patients. There are few reports in the literature on meningitis caused by CRKP. We report two cases of CRKP meningitis after neurosurgery. The K. pneumoniae identification and antimicrobial susceptibility tes
Rev. Inst. Med. trop. S. Paulo. Publicado em: 20/12/2019
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9. Estimates of genetic parameters of pigments and agronomic traits in green and purple lettuce
RESUMO O entendimento da genética e das interações gênicas envolvidas na expressão de determinadas características se torna um fator determinante para a melhor exploração seu uso. Este desconhecimento das bases genéticas envolvidas impacta diretamente no desenvolvimento de programas de melhoramento que aliem uma ou mais características desejáveis
Ciênc. agrotec.. Publicado em: 30/09/2019
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10. ANALYSIS OF LACTOSE INTOLERANCE IN STUDENTS WITH SUGGESTIVE SYMPTOMS OF IRRITABLE BOWEL SYNDROME
RESUMO CONTEXTO: A síndrome do intestino irritável é uma condição clínica que cursa com dor, distensão e plenitude abdominal, diarreia, constipação, entre outros sintomas. Gera impacto significativo na qualidade de vida das pessoas acometidas. Sua fisiopatologia é incerta, mas o papel de vários tipos de alimentos está estabelecido na sensibiliz
Arq. Gastroenterol.. Publicado em: 30/09/2019
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11. Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
Resumo A miocardiopatia dilatada (MCD) é uma síndrome caracterizada por dilatação ventricular esquerda e disfunção contrátil, sendo considerada a causa mais comum de insuficiência cardíaca em adultos jovens. O uso do sequenciamento de nova geração tem contribuído com a descoberta de uma grande quantidade de dados genômicos relacionados à MCD, i
Arq. Bras. Cardiol.. Publicado em: 02/09/2019
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12. 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