Publications by authors named "Peron A"

Iron is a vital micronutrient for nearly all microorganisms, serving as a co-factor in critical metabolic pathways. However, cheese is an iron-restricted environment. Furthermore, it has been demonstrated that iron represents a growth-limiting factor for many microorganisms involved in cheese ripening and that this element is central to many microbial interactions occurring in this ecosystem.

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Background: Congenital anomalies of the knee are a spectrum of rare disorders with wide clinical and genetic variability, which are mainly due to the complex processes underlying knee development. Despite progresses in understanding pathomechanisms and associated genes, many patients remain undiagnosed.

Objective: To uncover the genetic bases of a congenital patellar dislocation affecting multiple family members with variable severity.

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An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

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The incorporation of nitric oxide (NO) into polymeric matrices minimizes degradation and facilitates controlled release. This optimization increases the field of application of NO, in dressings, food protective films, and implant devices, among others. This work presents an economical and easy way to manufacture bioactive nitric oxide-releasing polymer (BioNOR-P) and evaluates its bactericidal and antioxidant activity (AA), mechanical behavior, cytotoxicity, and genotoxicity, seeking future use in different applications.

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New methods are essential to characterize the performance of substitute procedures for detecting therapeutic action(s) of a chemical or key signal of toxicological events. Herein, it was discussed the applications and advantages of using arthropods, worms, and fishes in pharmacological and/or toxicology assessments. First of all, the illusion of similarity covers many differences between humans and mice, remarkably about liver injury and metabolism of xenobiotics.

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Context: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes an inherited mitochondrial disease with significant genetic and phenotypic heterogeneity. Four clinical subtypes have been identified, each with distinct phenotypes and genetic variants.

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Propylparaben (PrP) and dichloropropylparaben (diClPrP) are found in soil worldwide, mainly due to the incorporation of urban sludge in crop soils and the use of non-raw wastewater for irrigation. Studies on the adverse effects of PrP on plants are incipient and not found for diClPrP. PrP and diClPrP were evaluated at concentrations 4, 40, and 400 µg/L for their phytotoxic potential to seeds of Allium cepa (onion), Cucumis sativus (cucumber), Lycopersicum sculentum (tomato), and Lactuca sativa (lettuce), and cytotoxic, genotoxic potential, and for generating oxygen-reactive substances in root meristems of A.

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Article Synopsis
  • - The study focuses on examining the connection between genetic factors and observable traits in patients with grade I and II foveal hypoplasia who maintain stable vision and good visual acuity, utilizing advanced imaging techniques like OCT and AO.
  • - A total of eight patients aged 8 to 18 were assessed; key findings included an average best corrected visual acuity of 0.18 logMAR, normal photoreceptor counts, and abnormalities in OCT-A imaging, with some showing mild albinism and one diagnosed with Waardenburg syndrome.
  • - The results suggest that while photoreceptor numbers appear normal, the quality and distribution of these cells may be altered due to genetic variations, impacting their overall retinal structure and function.
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Avobenzone (AVO) is a sunscreen with high global production and is constantly released into the environment. Incorporating sewage biosolids for fertilization purposes, the leaching from cultivated soils, and the use of wastewater for irrigation explain its presence in the soil. There is a lack of information about the impact of this sunscreen on plants.

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  • Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
  • To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
  • The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
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  • - The study focuses on KBG syndrome (KBGS), a rare neurodevelopmental disorder caused by mutations in the ANKRD11 gene, exploring its clinical features in adults, which are less documented compared to children.
  • - Researchers collected data on 36 adults with confirmed KBGS from various families and found symptoms such as mild intellectual disabilities, motor difficulties, psychiatric issues, and other health concerns like seizures and vision problems.
  • - The findings reveal a diverse range of adult experiences and abilities related to education and employment, contributing to the understanding of long-term outcomes for individuals with KBGS.
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  • * A study identified 25 individuals with new variations in the MSL2 gene, who exhibited NDD symptoms such as developmental delays, coordination problems, and autism spectrum disorder, along with other health concerns.
  • * iPSCs from affected individuals showed reduced MSL2 levels and changes in gene expression, leading to the characterization of a new MSL2-related disorder with unique clinical markers and a specific DNA episignature for diagnosis.
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Most countries that provide for compulsory treatment for mental illness have a system by which this treatment is subject to independent legal oversight. Many countries use a special type of legal body for this purpose, called a mental health tribunal. Mental health tribunals have been subject to criticism from the points of view of both legal professionals and mental healthcare practitioners.

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-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic variant.

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Background: Lamotrigine has become one of the most commonly prescribed antiseizure medications (ASM) in epileptic women during pregnancy and therefore requires regular updates regarding its safety. The aim of this study was to estimate the association between in utero exposure to lamotrigine monotherapy and the occurrence of neurodevelopmental outcomes.

Methods: All comparative studies assessing the occurrence of neurodevelopmental outcomes after epilepsy-indicated lamotrigine monotherapy exposure during pregnancy were searched.

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The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their outcomes vary from benign to severe disability. In this paper, we wished to retrospectively review the clinical, genetic, EEG, neuroimaging, and outcome data of patients experiencing the onset of epilepsy in the first three years of life, diagnosed and followed up in four Italian epilepsy centres (Epilepsy Centre of San Paolo University Hospital in Milan, Child Neurology and Psychiatry Unit of AUSL-IRCCS di Reggio Emilia, Pediatric Neurology Unit of Vittore Buzzi Children's Hospital, Milan, and Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia).

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In the food industry, the microencapsulation process is important to control the release of active encapsulated ingredients, mask unwanted flavors, colors, and unpleasant smells, increase shelf life, and protect encapsulated components from light, moisture, and nutritional loss. In this process, microspheres are formed using cross-linked polymer, which can incorporate aqueous or oily ingredients, using simple physicochemical methods of phase separation by coacervation, without the need for organic solvents. In this context, this study aimed to develop bioactive, functional frozen yogurt through the incorporation of microspheres loaded with ascorbic acid or omega 3.

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Bacillus thuringiensis (Bt) is known for its Cry and Vip3A pesticidal proteins with high selectivity to target pests. Here, we assessed the potential of a novel neotropical Bt strain (UFT038) against six lepidopteran pests, including two Cry-resistant populations of fall armyworm, Spodoptera frugiperda. We also sequenced and analyzed the genome of Bt UFT038 to identify genes involved in insecticidal activities or encoding other virulence factors.

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The benzophenone-3 (BP-3) sunscreen is recurrently released into the environment from different sources, however, evaluations of its adverse effects on plants do not exist in the literature. In this study, BP-3 was evaluated, at concentrations 2; 20, and 200 µg/L, regarding phytotoxicity, based on germination and root elongation in seeds, in Lactuca sativa L., Cucumis sativus L.

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Researchers have concentrated efforts in the search for natural-based reversible inhibitors for cholinesterase enzymes as they may play a key role in the treatment of degenerative diseases. Diverse plant alkaloids can inhibit the action of acetylcholinesterase and, among them, berberine is a promising bioactive. However, berberine has poor water solubility and low bioavailability, which makes it difficult to use in treatment.

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Article Synopsis
  • Recurrent 17q12 deletions are linked to various clinical issues, primarily affecting kidney and urinary tract development, diabetes, and neurodevelopmental disorders, with structural renal disease noted as the most common feature.
  • A study of 26 cases with identified 17q12 microdeletions, particularly in 17 cases with prenatal ultrasound findings, revealed diverse kidney issues such as renal cysts and echogenic kidneys.
  • The research suggests using genetic testing for 17q12 microdeletions in cases of renal anomalies detected before birth, as this information can significantly impact management during pregnancy and after birth due to differing prognoses.
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  • The significant phenotypic variability of human faces complicates the work of dysmorphologists by challenging Next-Generation Phenotyping (NGP) tools, especially when analyzing patients from diverse genetic backgrounds.
  • The research established the GestaltMatcher Database (GMDB), which includes over 10,000 facial images from patients with rare genetic disorders worldwide, striving to improve representation of underrepresented populations, particularly Asian and African patients.
  • The analysis showed that incorporating data from non-European patients enhanced the accuracy of NGP in diagnosing facial disorders without negatively affecting performance on European patients, emphasizing the need for more diverse datasets in medical genetics.
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Article Synopsis
  • NR2F2 (also known as COUP-TF2) is a transcription factor crucial for mammalian development, with rare variants linked to conditions like congenital heart disease (CHD) and congenital diaphragmatic hernia (CDH).
  • This study reviews 17 new cases of individuals with heterozygous NR2F2 variants, confirming variability in clinical features, such as intrauterine growth restriction, heart defects, developmental delays, and various congenital anomalies.
  • The findings showcase the need for better characterization of the phenotypic range associated with NR2F2 variants and potential clinical guidelines for diagnosis and evaluation.
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