Publications by authors named "Tonelli L"

Introduction: Screening for nasal carriage of Staphylococcus (S.) aureus is associated with a reduction of peritoneal dialysis (PD)-related infections, but conflicting results have questioned the benefit of this practice. This study evaluated the clinical effectiveness of the screening program for nasal carriage of S.

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Spoken language experience influences brain responses to sound, but it is unclear whether this neuroplasticity is limited to speech frequencies (>100 Hz) or also affects lower gamma ranges (∼30-60 Hz). Using the frequency-following response (FFR), a far-field phase-locked response to sound, we explore whether bilingualism influences the location of the strongest response in the gamma range. Our results indicate that the strongest gamma response for bilinguals is most often at 43 Hz, compared to 51 Hz for monolinguals.

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Kenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, and hypoparathyroidism with hypocalcemia. KCS and the related but more severe condition osteocraniostenosis are determined by monoallelic variants in the FAM111A gene. Here we describe the KCS phenotype resulting from the monoallelic FAM111A variant p.

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gene pathogenic variations cause a spectrum of phenotypes, ranging from severe Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild muscle phenotypes invariably characterized by high CK, and the ultrarare fully-asymptomatic cases. Besides these phenotypes, X-linked dilated cardiomyopathy is also caused by mutations. Males carrying deletions with absent or very mild phenotypes have been sparsely described.

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Article Synopsis
  • Brugada syndrome (BrS) is a genetic heart condition that can lead to severe heart issues and sudden cardiac death, characterized by a specific ECG pattern.
  • This study evaluated the Shanghai Score System's effectiveness in predicting the presence of SCN5A mutations in 125 BrS patients, showing that higher scores were linked to these mutations.
  • Results indicated that SCN5A mutations were associated with longer PR and QRS intervals on ECGs, reinforcing the relevance of the Shanghai Score in clinical settings for identifying patients who may benefit from genetic testing.
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Additive processes like Laser Beam Powder Bed Fusion (PBF-LB) result in a distinctive microstructure characterized by metastability, supersaturation, and finesse. Post-process heat treatments modify microstructural features and tune mechanical behavior. However, the exposition at high temperatures can induce changes in the microstructure.

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The progressive myoclonus epilepsies (PMEs) are a heterogeneous group of neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is achieved in about 80% of patients with PME, and genome-wide molecular studies on remaining, well-selected, undiagnosed cases can further dissect the underlying genetic heterogeneity. Through whole-exome sequencing (WES), we identified pathogenic truncating variants in the IRF2BPL gene in two, unrelated patients presenting with PME.

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We show that the sex of human experimenters affects mouse behaviors and responses following administration of the rapid-acting antidepressant ketamine and its bioactive metabolite (2R,6R)-hydroxynorketamine. Mice showed aversion to the scent of male experimenters, preference for the scent of female experimenters and increased stress susceptibility when handled by male experimenters. This human-male-scent-induced aversion and stress susceptibility was mediated by the activation of corticotropin-releasing factor (CRF) neurons in the entorhinal cortex that project to hippocampal area CA1.

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An early inflammatory insult is the most recognized risk factor associated with neurodevelopmental psychiatric disorders, even more so than genetic variants. Notably, complement component 4 (C4), a molecule involved in inflammatory responses, has been strongly associated with schizophrenia (SZ) and its role in other neurodevelopmental disorders, such as autism (ASD), is an area of active investigation. However, while C4 in SZ has been implicated in the context of synaptic pruning, little is known about its neuroinflammatory role.

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Article Synopsis
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare heart condition often detected in young people, characterized by fainting spells triggered by emotions or exercise without abnormal resting heart rhythms.
  • A 27-year-old woman experienced multiple misdiagnosed fainting episodes, which ultimately resulted in her cardiac arrest outside of the hospital.
  • Following her cardiac arrest, medical investigation including AED records suggested CPVT, leading to the start of beta blocker treatment and the discovery of a novel gene variant in the RYR2 gene linked to her condition.
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Subcutaneous parasitic infections are possible matches in routine pathology and can be detected not only in patients coming from or travelling in tropical countries, but also when the anamnesis does not suggest at first worm infestations. Here we report the case of a young man from the north-west of Italy, with a negative anamnesis for travels but the presence of dogs at home, who presented a subcutaneous nodule showing a nematode surrounded by a fibrous capsule; the morphology was suggestive for Dirofilaria repens. Dirofilariosis is a zoonosis caused by D.

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The treatment of municipal wastewater produces clean water and sewage sludge (MSS), the management of which has become a serious problem in Europe. The typical destination of MSS is to spread it on land, but the presence of heavy metals and pollutants raises environmental and health concerns. Bioconversion mediated by larvae of black soldier fly (BSFL) Hermetia illucens (Diptera, Stratiomyidae: Hermetiinae) may be a strategy for managing MSS.

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Some hemodialysis patients are reluctant to undergo COVID-19 vaccination for the fear of developing adverse events (AEs). The aim of this study was to verify the safety of the mRNA-1273 vaccine in hemodialysis patients. We conducted a retrospective analysis of in-center hemodialysis patients who underwent mRNA-1273 vaccine from March 1st to April 30th, 2021.

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The term phenocopy indicates a condition that imitates one produced by a gene and is also used for acquired Brugada-like ECG manifestations. Cases of Brugada phenocopies are increasingly reported in literature and an international registry is ongoing. We describe two patients with Hypertrophic Cardiomyopathy (HCM) and Brugada ECG pattern.

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The neurodevelopmental defects associated with ZIKV infections early in pregnancy are well documented, however the potential defects and long-term consequences associated with milder infections in late pregnancy and perinatal period are less well understood. To model these, we challenged 1 day old (P1) immunocompetent C57BL/6 mice with ZIKV. The animals developed a transient neurological syndrome including unsteady gait, kinetic tremors, severe ataxia and seizures 10-15 days post-infection (dpi) but symptoms subsided after a week, and most animals survived.

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Article Synopsis
  • In rodents, haloperidol treatment causes psychomotor impairments resembling Parkinsonism, with acute treatment leading to catalepsy and sub-chronic treatment reducing exploratory behavior.
  • Researchers explored whether playback of 50-kHz ultrasonic vocalizations (USV), an appetitive sound, could help alleviate these motor deficits induced by haloperidol in rats.
  • The study found that sub-chronic haloperidol led to reduced activity, but the playback of 50-kHz USV significantly improved exploratory behaviors and social responses in treated rats, indicating a potential for symptom relief.
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Background: Donation after circulatory death (DCD) is a solid resource to widen the kidney donor pool. Italian activity has grown in the last years with encouraging results. Our center has been active in DCD kidney transplantation (KTX) since November 2017, providing 22.

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Background: Iodine is an essential micronutrient for intellectual development in children. Information on iodine intakes based on 24-h urinary iodine excretion (UIE) is scant, because iodine status is only assessed by the measurement of urinary iodine concentration (UIC) in spot urine samples.

Objectives: The aim of our study was to evaluate the iodine intake of school-age children and adolescents, using UIE measurement in 24-h urine collections.

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Ambulatory blood pressure monitoring (ABPM) is now considered by current guidelines to be a reliable method of measurement for the diagnosis and assessment of hypertension. The aim of this study was to relate the short-term outcomes, comorbidity and ABPM findings determined from evaluating an everyday clinical cohort of hypertensive patients. A prospective study was carried out that included hypertensive patients who had undergone 24-h ABPM from January 2016 to November 2017.

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Research has shown that inflammatory processes affect brain function and behavior through several neuroimmune pathways. However, high order brain functions affected by inflammation largely remain to be defined. Resting state functional connectivity of synchronized oscillatory activity is a valid approach to understand network processing and high order brain function under different experimental conditions.

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Maternal immune activation (MIA) with the viral mimic poly I:C provides an established rodent model for studying schizophrenia (SZ) and other human neurodevelopmental disorders. Postnatal infections are additional risk factors in SZ and may cumulatively contribute to the emergence of pathophysiology. Underlying mechanisms may involve metabolites of the kynurenine pathway (KP) of tryptophan degradation, which is readily induced by inflammatory stimuli.

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Immunological abnormalities are increasingly reported in people with schizophrenia, but no clear functional biomarkers associated with genetic correlates of the disease have been found. Regulatory T cells (Tregs) are key immunoregulatory cells involved in the control of inflammatory processes and their functions are directly related to the human leucocyte antigen (HLA) gene, which has been implicated in schizophrenia genetic studies. However, there is a lack of studies reporting Treg status in people with schizophrenia.

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Germline mutations in , which encodes the tumor suppressor liver kinase B1 (LKB1), promote Peutz-Jeghers syndrome (PJS), a cancer predisposition syndrome characterized by the development of gastrointestinal (GI) polyps. Here, we report that heterozygous deletion of in T cells (LT mice) is sufficient to promote GI polyposis. Polyps from LT mice, mice, and human PJS patients display hallmarks of chronic inflammation, marked by inflammatory immune-cell infiltration, signal transducer and activator of transcription 3 (STAT3) activation, and increased expression of inflammatory factors associated with cancer progression [interleukin 6 (IL-6), IL-11, and CXCL2].

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Psychological stress is known to have profound effects on immune function and to promote inflammatory conditions. Elevated circulating levels of cytokines associated with stress are known to increase the risk to several diseases, but little is known about this mechanism. This study assessed the role of T cells on cytokine levels after exposure to stress in the learned helplessness paradigm.

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Paradoxical kinesia is a sudden transient ability of akinetic patients to perform motor tasks they are otherwise unable to perform. This phenomenon is known to depend on the patient's emotional state and external stimuli. Paradoxical kinesia can be induced by appetitive 50-kHz ultrasonic vocalizations (USV) in rats displaying catalepsy following systemic haloperidol.

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