Clinical Phenotype
Mostrando 1-12 de 1060 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. Normocalcemic primary hyperparathyroidism
ABSTRACT Normocalcemic primary hyperparathyroidism (PHPT) is a newer phenotype of PHPT defined by elevated PTH concentrations in the setting of normal serum calcium levels. It is increasingly being diagnosed in the setting of evaluation for nephrolithiasis or metabolic bone diseases. It is important to demonstrate that PTH values remain consistently elevated
Archives of Endocrinology and Metabolism. 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. 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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5. The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis
SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diag
Archives of Endocrinology and Metabolism. Publicado em: 2022
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6. From clinical phenotype to proteinopathy: molecular neuroimaging in neurodegenerative dementias
RESUMO As demências neurodegenerativas caracterizam-se pelo acúmulo anormal de proteínas mal dobradas. Entretanto, os seus critérios diagnósticos ainda se baseiam no fenótipo clínico. O desenvolvimento de biomarcadores permitiu a detecção in vivo do processo fisiopatológico. O objetivo deste artigo é fazer uma revisão não-sistemática sobre o pa
Arquivos de Neuro-Psiquiatria. Publicado em: 2022
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7. Effect of ABO blood groups on length of hospital stay according to age in Covid-19 patients
Abstract Introduction Coronavirus Disease 2019 (COVID-19) is a novel viral disease with person-to-person transmission that has spread to many countries since the end of 2019. Although many unknowns were resolved within a year and the vaccine is available, it is still a major global health problem. Objective COVID-19 infection may present with a considerabl
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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8. Case for diagnosis. Ulcerated lesions: a diagnostic challenge in Behçet's syndrome
Abstract This study reports the clinical case of a 42-year-old patient with ulcerated lesions who was followed up by general practitioners with the diagnosis of recurrent cellulitis. However, when referred to the Dermatology division a diagnosis of Behçet's syndrome was established based on clinical criteria. Although there are defined clinical criteria for
An. Bras. Dermatol.. Publicado em: 2021-08
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9. Hereditary angioedema: a disease seldom diagnosed by pediatricians
Abstract Objectives: To describe the hereditary angioedema to improve awareness of this condition and reduce diagnostic delay. Data sources: Relevant articles in the MEDLINE database through PubMed. Data synthesis: Hereditary angioedema is rare and has an autosomal dominant pattern of inheritance. Its onset occurs mainly in childhood, but there is an impo
J. Pediatr. (Rio J.). Publicado em: 2021-04
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10. 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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11. Panic disorder respiratory subtype: psychopathology and challenge tests – an update
Panic disorder (PD) pathophysiology is very heterogeneous, and the discrimination of distinct subtypes could be very useful. A subtype based on respiratory symptoms is known to constitute a specific subgroup. However, evidence to support the respiratory subtype (RS) as a distinct subgroup of PD with a well-defined phenotype remains controversial. Studies hav
Braz. J. Psychiatry. Publicado em: 2020-08
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12. 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