Search Results - "da Cruz Paiva, Grayce Ellen"
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Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO
Published in Scientific reports (07-02-2023)“…Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near complete absence of functional adipose tissue from…”
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Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women
Published in Diabetology and metabolic syndrome (04-09-2024)“…Familial Partial Lipodystrophy (FPLD) is a disease with wide clinical and genetic variation, with seven different subtypes described. Until genetic testing…”
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Bone Mineral Density in Congenital Generalized Lipodystrophy: The Role of Bone Marrow Tissue, Adipokines, and Insulin Resistance
Published in International journal of environmental research and public health (15-09-2021)“…Congenital Generalized Lipodystrophy (CGL) is a rare syndrome characterized by the almost total absence of subcutaneous adipose tissue due to the inability of…”
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Misdiagnosis of Paget's Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report
Published in Frontiers in endocrinology (Lausanne) (28-06-2021)“…Paget's disease of bone (PDB) is a common skeleton disorder in which the diagnosis is suggested by radiological analyses. Congenital generalized lipodystrophy…”
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Leu124Serfs26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications
Published in Diabetology and metabolic syndrome (06-04-2020)“…Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon…”
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SARS-COV-2 infection outcomes in patients with congenital generalized lipodystrophy
Published in Diabetology and metabolic syndrome (13-06-2021)“…Background A new strain of human coronavirus (HCoV) spread rapidly around the world. Diabetes and obesity are associated with a worse prognosis in these…”
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Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy
Published in Archives of Endocrinology and Metabolism (01-02-2019)“…Thyroid carcinoma (TC) is rare in children, particularly in those aged < 10 years. Several studies have demonstrated a correlation between neoplasms and…”
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Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2
Published in Frontiers in endocrinology (Lausanne) (03-04-2024)“…Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of…”
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Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study
Published in Frontiers in endocrinology (Lausanne) (03-06-2024)“…There is a lack of information on the clinical and molecular presentation of familial partial lipodystrophy (FPLD), a rare genetic disorder characterized by…”
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Reduced gut microbiota diversity in patients with congenital generalized lipodystrophy
Published in Diabetology and metabolic syndrome (24-09-2022)“…Background Previous studies suggest intestinal dysbiosis is associated with metabolic diseases. However, the causal relationship between them is not fully…”
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Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy
Published in Diabetes, metabolic syndrome and obesity (01-01-2020)“…Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the absence of functional adipocytes resulting in ectopic…”
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Evaluation of the anti-diabetic drug sitagliptin as a novel attenuate to SARS-CoV-2 evidence-based in silico: molecular docking and molecular dynamics
Published in 3 Biotech (01-12-2022)“…The current outbreak of COVID-19 cases worldwide has been responsible for a significant number of deaths, especially in hospitalized patients suffering from…”
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