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Dihydropyrimidine dehydrogenase polymorphisms in patients with gastrointestinal malignancies and their impact on fluoropyrimidine tolerability: Experience from a single Italian institution.
World J Gastrointest Oncol
January 2025
Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples 80131, Campania, Italy.
Background: Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase (DPD), encoded by the gene. About 7% of the European population is a carrier of gene polymorphisms associated with reduced DPD enzyme activity.
Aim: To assess the prevalence of polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.
Impact of Adverse Events on Neonatal Emergency Transport: Italian Experience.
Acta Paediatr
January 2025
Neonatal Intensive Care Unit, Children's Hospital, ASST Spedali Civili Brescia, Brescia, Italy.
Aim: To quantify and categorise retrospectively all adverse events occurring during unplanned neonatal emergency interhospital transfers conducted by the Transfer Service of the Spedali Civili di Brescia over 3 years.
Methods: The revised data were extracted from specific questionnaires filled out by staff. The events were classified according to an adapted retrieval team model (PANSTAR); the risk level was assessed using an effective risk assessment score.
Diagnosis of hereditary ataxias: a real-world single center experience.
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
Real-world effectiveness of mepolizumab in asthma: a systematic review and meta-analysis.
J Asthma
January 2025
Department of Biomedical Science, Humanitas University, Pieve Emanuele (Milano), Italy.
Objective: Exacerbations and suboptimal disease control are common in severe asthma with an eosinophilic phenotype (SAep). Mepolizumab, an anti-interleukin-5 monoclonal antibody, has demonstrated efficacy and safety in randomized controlled trials (RCTs). We aimed to strengthen the real-world evidence base for mepolizumab in SAep.
View Article and Find Full Text PDFAcalabrutinib in High-Risk Chronic Lymphocytic Leukaemia Naïve Patients: An Italian Multicenter Retrospective Observational Real-Life Experience.
Hematol Oncol
January 2025
Department of Laboratory and Haematological Sciences, Haematology Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Roma, Italy.
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