Phenotype Characteristics
Mostrando 1-12 de 538 artigos, teses e dissertações.
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1. Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Abstract Objectives: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal
Jornal de Pediatria. Publicado em: 2022
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2. Relationships between self-reported dyspnea, health conditions and frailty among Brazilian community-dwelling older adults: a cross-sectional study
ABSTRACT CONTEXT: Dyspnea is a symptom present in several chronic diseases commonly seen among older adults. Since individuals with dyspnea tend to stay at rest, with consequently reduced levels of physical activity, they are likely to be at greater risk of developing frailty, especially at older ages. DESIGN AND SETTING: Cross-sectional study at community
Sao Paulo Medical Journal. Publicado em: 2022
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3. Comparison of clinical characteristics of wild-type SARS-CoV-2 and Omicron
SUMMARY OBJECTIVE: This study aimed to investigate the effect of mutations by comparing wild-type SARS-CoV-2 and Omicron regarding clinical features in patients with COVID-19. It also aimed to assess whether SARS-CoV-2 cycle threshold value could predict COVID-19 severity. METHODS: A total of 960 wild-type and 411 Omicron variant patients with positive res
Revista da Associação Médica Brasileira. Publicado em: 2022
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4. Immunohistochemical and clinicopathologic features of estrogen receptor-negative, progesterone receptor-positive, HER-2 negative breast carcinomas
SUMMARY OBJECTIVE: Currently, there is an ongoing debate whether progesterone receptor positive and estrogen receptor negative breast carcinomas represent a true distinct subtype of tumor or a mere immunohistochemical artifact. In this study, we conducted an immunohistochemistry panel with the antibodies TFF1, EGFR, and CK5 to reclassify this phenotype in a
Rev. Assoc. Med. Bras.. Publicado em: 2021-02
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5. Galbraith, Robert. O Chamado do Cuco. Tradução de Ryta Vinagre. Rio de Janeiro: Rocco, 2013. 448 p.
ABSTRACT BACKGROUND: Environmental and population characteristics seem to influence the variation in cutoff points of the Short Physical Performance Battery (SPPB) for diagnosing frailty syndrome among older adults. OBJECTIVE: To verify the validity of the SPPB for screening for frailty syndrome among older adults in the Amazonian context. DESIGN AND SETT
Cad. Trad.. Publicado em: 2020-12
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6. Validity of the short physical performance battery for screening for frailty syndrome among older people in the Brazilian Amazon region. A cross-sectional study
ABSTRACT BACKGROUND: Environmental and population characteristics seem to influence the variation in cutoff points of the Short Physical Performance Battery (SPPB) for diagnosing frailty syndrome among older adults. OBJECTIVE: To verify the validity of the SPPB for screening for frailty syndrome among older adults in the Amazonian context. DESIGN AND SETT
Sao Paulo Med. J.. Publicado em: 2020-12
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7. 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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8. Thermotolerance of Histoplasma capsulatum at 40 °C predominates among clinical isolates from different Latin American regions
ABSTRACT The yeast phase of 22 Histoplasma capsulatum clinical isolates from Mexico, Argentina, Colombia, and Guatemala and three reference strains, one from Panama and two from the United States of America (USA), were screened for thermosensitivity characteristics using different analyses. Growth curves at 0, 3, 6, 12, 24, and 30 h of incubation at 37 and 4
Braz J Infect Dis. Publicado em: 2020-02
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9. Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Abstract Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiag
Genet. Mol. Biol.. Publicado em: 20/01/2020
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10. Resolution of headache after reduction of prolactin levels in hyperprolactinemic patients
Resumo Os adenomas secretores de prolactina (PRL) estão associados à alta incidência de cefaleia. O papel da hiperprolactinemia no contexto da dor de cabeça não está claro, nem o efeito da redução dos níveis da PRL na cefaleia. Métodos: O presente estudo longitudinal avaliou pacientes hiperprolactinêmicos (69), quanto à presença e às caracter
Arq. Neuro-Psiquiatr.. Publicado em: 13/01/2020
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11. Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
Resumo A Síndrome da Deleção 22q11.2 (SD22q11.2), microdeleção cromossômica mais frequente em humanos, é associada a um fenótipo neurocognitivo muito heterogêneo. Uma das principais características do espectro da síndrome é a variabilidade intelectual, que abrange de desempenho médio a deficiência intelectual, bem como discrepâncias entre Quoc
Estud. psicol. (Campinas). Publicado em: 11/11/2019
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12. The first cases of gynandromorphism in oil-collecting bees (Hymenoptera, Apidae: Centridini, Tapinotaspidini)
Abstract Here we provide descriptions of gynandromorphs of two species oil-collecting bees: Lophopedia nigrispinis and Epicharis iheringii, both with partial bilateral phenotypic asymmetry. The bees have a female phenotype predominantly on mesosoma and metasoma. The specimen of L. nigrispinis has distinct characteristics on legs, suggesting a mosaic pattern
Pap. Avulsos Zool.. Publicado em: 03/10/2019