Publications by authors named "Accorsi P"

The global decline of species necessitates intensive conservation efforts, including ex-situ breeding programs to safeguard endangered populations. However, managing welfare and reproduction in zoological gardens can present several challenges. This study aims to explore behaviors and endocrinological responses of two specimens of fossa (Cryptoprocta ferox) under human care.

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Plains zebras are commonly hosted in zoos, but few welfare-related studies are available in the literature. This research aimed to assess the effect of enclosure design on two groups of captive zebras housed at the Giardino Zoologico di Pistoia - GZP (Italy) and Parco Faunistico Valcorba - PFV (Italy) through the analysis of behavior and enclosure use. The groups consisted of an adult pair and a male juvenile at GZP and six adult females at PFV.

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  • Large studies and specific electrophysiology techniques have helped identify various SCN2A-epilepsy phenotypes, their genetic connections, and their reactions to sodium channel blockers.
  • One notable presentation of SCN2A variants is benign familial neonatal-infantile seizures (BFNIS), which typically occur within the first 23 months of life and often resolve within two years, sometimes with treatment.
  • A recent case highlights a woman, originally diagnosed with BFNIS in infancy, who experienced additional seizures over 40 years later, suggesting SCN2A-related seizures may have implications in adulthood.
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A heterozygous gain-of-function variant in the acyl-CoA oxidase 1 (ACOX1) gene, c.710A>G (p.Asn237Ser), is known to cause Mitchell syndrome, a very rare progressive disorder characterized by episodic demyelination, sensory polyneuropathy, and hearing loss.

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In veterinary medicine, Cannabis has been used to treat pain conditions, inflammation, and seizures. However, little is known about its effect on dogs' behavior. This preliminary research aims to address this knowledge gap by evaluating the effectiveness of cannabidiol (CBD) oil in canine behavioral therapy.

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Virtual Fencing (VF) can be a helpful technology in managing herds in pasture-based systems. In VF systems, animals wear a VF collar using global positioning, and physical boundaries are replaced by virtual ones. The Nofence (Nofence AS, Batnfjordsøra, Norway) collars used in this study emit an acoustic warning when an animal approaches the virtual boundaries, followed by an aversive electrical pulse if the animal does not return to the defined area.

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Purpose: The aim of our work is to describe the characteristics of Early Onset Absence Epilepsy (EOAE) and to observe whether specific anamnestic, clinical or electroencephalographic characteristics can influence the drug sensitivity of this pathology.

Methods: We carried out a retrospective study of patients affected by absence epilepsy with onset under four years of age, born between January 1st 2000 and December 31st 2018, who were reffered to the Regional Epilepsy Center of Spedali Civili of Brescia. We then divided the sample into three groups based on the age of onset.

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Background: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern.

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GvHD still remains, despite the continuous improvement of transplantation platforms, a fearful complication of transplantation from allogeneic donors. Being able to separate GvHD from GvL represents the greatest challenge in the allogeneic transplant setting. This may be possible through continuous improvement of cell therapy techniques.

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Much evidence supports that the early introduction of allergenic foods in weaning is useful to prevent food allergies later in life. Real life is often different, with factors related to mothers and infants. Our study aimed to deepen the timing of introducing the foods responsible for most allergic reactions during the weaning and why parents delay their introduction.

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  • * A study was conducted to investigate the production of melatonin (ME) in very preterm infants, the metabolism of ME after oral treatment, and the impact on MDA concentrations over 15 days.
  • * Results showed that while preterm infants couldn't produce measurable levels of ME initially, those who received ME treatment had significant increases in ME and its metabolite 6-OH-ME, but MDA levels remained relatively stable with a slight trend towards improvement in the ME group.
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  • * The patient underwent a treatment regimen involving daratumumab, bortezomib, thalidomide, and dexamethasone, followed by stem-cell collection and autologous stem cell transplantation (ASCT).
  • * The combination treatment showed promising effectiveness for managing both cancers, with successful stem cell mobilization and quick recovery post-transplant, despite initial concerns regarding the management of these complex conditions.
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  • Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder categorized into three types, with the study focusing on the clinical and electroclinical characteristics of patients.
  • Seven previously unreported patients were followed for 10 to 34 years, and a literature review compiled 81 cases, revealing that the majority of patients experience type I deficiency, with epilepsy being a common symptom.
  • EEG findings showed distinctive patterns like poor background organization and specific seizure types, while imaging consistently indicated cerebral and cerebellar atrophy, highlighting the need for better understanding and management of this disorder.
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  • SCN2A gene mutations can lead to conditions like epilepsy, developmental delays, and autism, with previous studies in Denmark showing a prevalence of about 0.0012% in live births.
  • A study in Brescia, Italy, from 2002 to 2021 found a higher frequency of SCN2A-related disorders at 0.0047%, indicating a more significant presence of the pathogenic variant compared to Denmark's data.
  • Results showed that the incidence of the SCN2A variant in Brescia was approximately three to four times higher than in the Danish population, suggesting a need for further research on this genetic variant in Italy.
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Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to polydrug-dependent mothers and followed for few months/years. We report the long-term outcomes of two infants with congenital nystagmus solely exposed to methadone in utero.

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  • Researchers identified 37 cases of Streptococcus equi subspecies zooepidemicus infections in central Italy between November 2021 and May 2022.
  • Investigations revealed that unpasteurized fresh dairy products were the source of the outbreak.
  • The use of whole-genome sequencing allowed for early diagnosis, helping to prevent further spread of these potentially life-threatening infections.
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PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and intellectual disability. Since 2018, PUS7 deficiency has been described in 15 patients with different pathogenic variants but similar clinical phenotypes. We describe the case of a male infant with a homozygous truncating pathogenic variant in the PUS7 gene (c.

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Objectives: We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality.

Methods: Standardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis.

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Beef cattle welfare and health status are influenced by housing and management systems. The present study aimed to assess the welfare and health status in the first 15 days after arrival of Limousine bulls imported from France and fattened in a commercial fattening unit in Italy. A total of 264 bulls were included in the study.

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Background: Extremely low gestational age neonates (ELGANs, i.e., neonates born before 28 weeks of gestation) are at high risk of developing retinopathy of prematurity (ROP), with potential long-life visual impairment.

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Affective states are of increasing interest in the assessment of animal welfare. This research aimed to evaluate the possible limitations in the application of a spatial judgment bias test (JBT) in horses, considering the influence of stress level, personality traits, and the possible bias due to the test structure itself. The distinction between two positions, one rewarded (Positive) and the other not (Negative), was learned by 10 horses and 4 ponies,.

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Objective: Descriptions of electroencephalographic (EEG) patterns in Aicardi syndrome (AIC) have to date referred to small cohorts of up to six cases and indicated severe derangement of electrical activity in all cases. The present study was conducted to describe the long-term EEG evolution in a larger AIC cohort, followed for up to 23 years, and identify possible early predictors of the clinical and EEG outcomes.

Methods: In a retrospective study, two experienced clinical neurophysiologists systematically reviewed all EEG traces recorded in 12 AIC cases throughout their follow-up, from epilepsy onset to the present.

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