Hipercolesterolemia Familiar (FH) é uma condição autossómica semidominante causada por variantes patogénicas ou provavelmente patogénicas nos genes LDLR, APOB e PCSK9. A FH pode apresentar-se na forma monoalélica (FH heterozigótica) ou bialélica (FH homozigótica). A forma homozigótica é mais rara e com fenótipo mais grave. Indivíduos com FH homozigótica geralmente apresentam hipercolesterolemia severa (LDL>400m...
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Lactoferrin (LF) is a multifunctional protein involved in critical biological processes such as immune response, antimicrobial activity, and iron regulation [1]. Its diverse roles include inhibiting inflammation, infections, and carcinogenesis [2], as well as modulating cellular processes by targeting proton-pumping ATPases such as V-ATPases in cancer cells [3], F- ATPases in bacteria [4], and P-ATPases in yeas...
Introduction: Nonalcoholic fatty liver disease is the leading cause of pediatric chronic liver disease. Although nonalcoholic fatty liver disease is closely associated with obesity, its relationship with metabolic syndrome in children is not fully understood. The main aim of this study was to evaluate the association between nonalcoholic fatty liver disease and a combination of cardiometabolic risk factors in a...
Introduction: The high prevalence of deliberate self-harm (DSH) and its strong association with suicide make the condition a natural target for intervention to prevent harmful consequences for adolescents. The aim of this study was to determine the prevalence of DSH and to characterize DSH patterns and associated risk factors in a sample of adolescents. Methods: A cross-sectional study was conducted by applying...
Introduction: Nonalcoholic fatty liver disease is the leading cause of pediatric chronic liver disease. Although nonalcoholic fatty liver disease is closely associated with obesity, its relationship with metabolic syndrome in children is not fully understood. The main aim of this study was to evaluate the association between nonalcoholic fatty liver disease and a combination of cardiometabolic risk factors in a...
Introduction: The high prevalence of deliberate self-harm (DSH) and its strong association with suicide make the condition a natural target for intervention to prevent harmful consequences for adolescents. The aim of this study was to determine the prevalence of DSH and to characterize DSH patterns and associated risk factors in a sample of adolescents. Methods: A cross-sectional study was conducted by applying...
Background: Radio contrast media(RCM) are within the most used pharmacological agents and gadolinium-based contrast agents(GBCA) hypersensitivity reactions are rising. The misrecognition of symptoms leads to a delayed diagnosis, as well as an unknown real prevalence of these reactions. We aimed to evaluate GBCA hypersensitivity reactions in a population referred to a tertiary hospital. Methods: Retrospective st...
The majority of acute iron toxicity cases occur in young children from accidental ingestion. In adults, iron poisoning is rare and mostly due to intentional ingestion. Physicians, particularly those who do not routinely treat pediatric patients, are often unfamiliar with the clinical manifestation of iron poisoning, its management, and its potential for multiple organ failure, especially liver damage. Severe ac...
Objective: Idiopathic central precocious puberty (iCPP) is common in paediatric endocrinology. Gonadotropin-releasing hormone agonists (GnRHa) are safe, but the effect on final height and the ideal timing for treatment remains controversial. This study aims to assess the effectiveness of GnRHa on growth outcomes in girls with iCPP treated before and after the age of 8 years old. Design and patients: This retros...