research Uncombable hair in a case of Zellweger syndrome – A new association
This case report describes a novel association between uncombable hair syndrome and Zellweger syndrome due to a homozygous mutation in the PEX12 gene.
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research Latent transforming growth factor beta-binding protein 1 (LTBP1): roles as a multifunctional extracellular matrix regulator in human disease. From molecular mechanisms to clinical translation prospects
This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.
research Abstracts
Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
research Qualidade de vida de pacientes após um ano do diagnóstico da COVID-19: estudo retrospectivo
This study concludes that one year after COVID-19 infection, patients in Northeast Brazil showed improvements in quality of life, although some symptoms such as anxiety and memory loss persisted.
research A Case Report of Thrombotic Thrombocytopenic Purpura Associated with Systemic Lupus Erythematosus: Overlapping Features
This case report highlights a 17-year-old girl with overlapping features of thrombotic thrombocytopenic purpura and systemic lupus erythematosus, emphasizing the critical importance of early diagnosis and intensive therapy including plasma exchange.
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