Publications by authors named "Daniela Paoli"

The 20th century witnessed the dawn of the antibiotic revolution and is now facing the rising phenomenon of antibiotic resistance. In this narrative review, we aim to describe antibiotic resistance in clinical practice settings through population-based studies from different countries reporting the role of misuse of antibiotics in the development of resistance and the clinical and economic burden associated. The misuse of antibiotics was documented in the wide population as well as in hospitals and care facilities.

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Poor medication adherence leads to worsening of clinical outcomes and increases healthcare costs, especially in the context of chronic conditions. The effects of new COVID-19 infection and the measures taken in response to the outbreak are further increasing the concerns about medication adherence. Patients with chronic diseases, many of whom are older adults, have been strongly recommended to stay at home and avoid social contacts even with family members, who often provide support for regular use of therapies.

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LOXL1 (lysyl oxidase-like 1) has been identified as the major effect locus in pseudoexfoliation (PEX) syndrome, a fibrotic disorder of the extracellular matrix and frequent cause of chronic open-angle glaucoma. However, all known PEX-associated common variants show allele effect reversal in populations of different ancestry, casting doubt on their biological significance. Based on extensive LOXL1 deep sequencing, we report here the identification of a common non-coding sequence variant, rs7173049A>G, located downstream of LOXL1, consistently associated with a decrease in PEX risk (odds ratio, OR = 0.

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Article Synopsis
  • Exfoliation syndrome (XFS) is a significant risk factor for secondary glaucoma, contributing to blindness globally, with known genetic variants in LOXL1 and CACNA1A linked to the condition.
  • Researchers conducted a study analyzing samples from multiple countries, discovering a rare protective allele at LOXL1 and refining its association, which had been previously inconsistent across different populations.
  • A genome-wide association study identified seven significant genetic loci related to XFS, providing new insights into its biological mechanisms and emphasizing the role of rare LOXL1 variants in the disease's development.
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Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX patients and 1,350 controls, followed by independent testing of associated variants in Italian and Japanese data sets. We focus on a 3.

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Article Synopsis
  • Primary angle closure glaucoma (PACG) is a key cause of blindness, prompting a large-scale study involving over 10,000 PACG patients and nearly 30,000 controls across multiple continents.
  • The study identified five new genetic loci associated with PACG risk, each with significant statistical results (e.g., EPDR1 with an odds ratio of 1.24 and a P-value of 5.94 × 10(-15)).
  • Additionally, three previously known genetic loci were confirmed, enhancing the understanding of the genetic factors underlying PACG.
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Article Synopsis
  • Exfoliation syndrome (XFS) is a common cause of a type of eye disease called open-angle glaucoma.
  • Researchers studied the DNA of nearly 1,500 people with XFS and compared it to over 1,100 healthy people from Japan, and then looked at even more data from around the world.
  • They found a new gene that seems to increase the chances of getting XFS and confirmed another gene that behaves differently in people from different backgrounds.
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Purpose: Supposedly, prostaglandin analogs (PGA) could reduce the central corneal thickness (CCT), while topical carbonic anhydrase inhibitors (TCAI) could increase CCT. The aim of the study was to evaluate clinically significant CCT effects in patients treated with PGA or TCAI.

Methods: At least 50 glaucomatous patients were saved on the Italian Glaucoma Register from 16 different glaucoma centers.

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Genetic and nongenetic factors contribute to development of pseudoexfoliation (PEX) syndrome, a complex, age-related, generalized matrix process frequently associated with glaucoma. To identify specific genetic variants underlying its etiology, we performed a genome-wide association study (GWAS) using a DNA-pooling approach. Therefore, equimolar amounts of DNA samples of 80 subjects with PEX syndrome, 80 with PEX glaucoma (PEXG) and 80 controls were combined into separate pools and hybridized to 500K SNP arrays (Affymetrix).

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Purpose: Pseudoexfoliation (PEX) syndrome, an age-related, systemic, elastic microfibrillopathy, is characterized by fibrillar-granular deposits in the anterior segment of the eye. Although not representing a true amyloidosis, PEX syndrome shares some features with amyloid disorders, such as Alzheimer disease. It has been shown that amyloid-associated proteins also occur in association with PEX fibrils.

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Purpose: Pseudoexfoliation (PEX) syndrome is a generalized elastic microfibrillopathy characterized by fibrillar deposits in intra- and extraocular tissues. Genetic and nongenetic factors are known to be involved in its etiopathogenesis. This study was focused on six functional candidate genes involved in PEX material deposition and the analysis of their potential association with PEX syndrome and PEX glaucoma (PEXG).

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Purpose: Three common sequence variants in the lysyl oxidase-like 1 (LOXL1) gene were recently associated with both pseudoexfoliation (PEX) and pseudoexfoliation glaucoma (PEXG) in populations from Iceland and Sweden. In this study, the genetic association of these variants was investigated in patients with PEX or PEXG of German and Italian descent.

Methods: The three LOXL1 single-nucleotide polymorphisms (SNPs), one intronic (rs2165241) and two nonsynonymous coding SNPs (rs1048661: R141L and rs3825942: G153D) were genotyped in a total of 726 unrelated patients with PEX or PEXG (517 Germans and 209 Italians) and 418 healthy subjects who had normal findings in repeated ophthalmic examinations, and a genetic association study was performed.

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