Publications by authors named "V V Guarnieri"
The dilemma of X-linked agammaglobulinemia carriers.
J Allergy Clin Immunol Glob
February 2025
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Article Synopsis
- Aberrant epigenetic changes, specifically in DNA methylation and non-coding RNAs, play a significant role in the development of parathyroid tumors, particularly concerning the genes RASSF1A and APC, which are often downregulated in cancers.
- In a study of parathyroid adenomas and carcinomas, RASSF1A promoter methylation was found in approximately 90% of adenomas and was inversely related to tumor size; however, APC methylation appeared less frequently.
- The research concluded that the methylation of RASSF1A and APC is a common feature in parathyroid tumors, with the activity of DNA methyltransferases affecting
Aim: Examine the trends and epidemiological features of acute hospitalized bronchiolitis cases among children aged 28 days to 2 years, both before and after the COVID-19 pandemic. Furthermore, evaluate their need for intensive care unit (ICU) admission and identify primary risk factors associated with severe bronchiolitis.
Methods: A retrospective analysis was conducted on the medical records of paediatric patients admitted to Meyer Children's Hospital in Florence (Italy) from September 2019 to March 2023, with the diagnosis of bronchiolitis.
Hypophosphatasia (HPP) is a rare disorder of the bone metabolism, characterized by genetically determined low alkaline phosphatase (ALP) activity. Low ALP may also be observed in some common causes of bone fragility, such as in osteoporosis treated with antiresorptive drugs. This study aimed to verify whether differences in bone turnover markers (BTMs) could help differentiate adult patients with HPP from those with osteoporosis undergoing antiresorptive treatment.
View Article and Find Full Text PDFObjective: Respiratory syncytial virus (RSV) causes significant lower respiratory tract infections (LRTIs) in infants and young children. Current prevention targets those under 2 years. This study aims to evaluate RSV patterns and severity in children older than 2 years and to explore the potential extension of preventive strategies to this demographic group.
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