Publications by authors named "Adriana Berretta"
Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care.
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- - Advances in mucopolysaccharidosis type I since a 2008 consensus study by Argentine experts were reviewed, focusing on genetic testing and monitoring various health aspects.
- - Updated recommendations include cardiological follow-up, airway care, hearing impairment detection, and assessments of spinal and neurological conditions.
- - The study highlights the importance of early diagnosis, treatment, and interdisciplinary care for better patient outcomes.
Background: Allogeneic hematopoietic stem cell transplantation (AHSCT) represents the only curative treatment for the majority of pediatric patients with Myelodysplastic Syndrome (MDS). We aimed to evaluate overall survival (OS), disease-free survival (DFS), non-relapse mortality (NRM) and relapse incidence in children who underwent AHSCT for MDS in six institutions from Argentina.
Procedure: A retrospective analysis of 54 AHSCT was carried out in 52 patients (mean age: 9 years; range: 2-19; 35 males).
Objective: To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
Materials And Methods: Detection of JAK2 V617F mutation by allele specific-PCR.
Results: One hundred and three patients with CMD were included in the study.