Exploring the Role of Variants in Italian ALS Patients.

Variants in Cyclin F () have been associated to amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) in a group of cases. The objectives of this study were to determine the contribution of in a large cohort of Italian ALS patients, to look for genotype-phenotype correlation of the mutations and to evaluate the -associated clinical features. We applied next-generation sequencing technologies on 971 unrelated Italian ALS patients and we filtered results to look for variants in gene.

Isolated Temporomandibular Arthritis as Presentation of Juvenile Idiopathic Arthritis.

Involvement of the temporomandibular joint (TMJ) in patients with juvenile idiopathic arthritis (JIA) has been increasingly reported, affecting up to 87% of cases. This involvement generally occurs after the diagnosis of JIA has been established; however, in the authors' cases, as in a few others documented in the literature, patients presented with isolated TMJ arthritis as the sole joint involvement. The authors performed a narrative literature review on TMJ involvement in JIA and reported 2 cases that presented with isolated TMJ arthritis as the initial manifestation of JIA.

Investigating the plasma electrophoretic protein profile of kids and lambs during the neonatal period: An overview of their immuno-inflammatory status.

The study aimed to evaluate how plasma total proteins, their fractions (i.e. albumin, α1-, β-, γ-globulins) and A/G ratio change in lambs and kids over the first month of life.

Intricate ribosome composition and translational reprogramming in epithelial-mesenchymal transition.

Epithelial-mesenchymal transition (EMT) involves profound changes in cell morphology, driven by transcriptional and epigenetic reprogramming. However, evidence suggests that translation and ribosome composition also play key roles in establishing pathophysiological phenotypes. Using genome-wide analyses, we reported significant rearrangement of the translational landscape and machinery during EMT.

Anorexia nervosa in children and adolescents: an early detection of risk factors.

The incidence of eating disorders in children, mainly of anorexia nervosa, is dramatically increased in the last years. A timely identification of the disease is associated with higher rates of recovery. Aim of the work is to underline signs and symptoms that can be used to an early detection of anorexia nervosa in the pediatric age.

Use of butorphanol as a local anaesthetic for pain management in calves undergoing umbilical hernia repair.

The aim of the study was to compare the analgesic efficacy of butorphanol and lidocaine, alone or in combination, in calves undergoing surgical repair of umbilical hernia. The study was conducted in 60 calves of different breeds. Xylazine 0.

Bilateral Global Nephrocalcinosis in a Uremic Puppy.

This study explores kidney disease in young dogs, focusing on early diagnosis, management, and the importance of staging for effective treatment. Highlighting mineral metabolism imbalances and complications such as nephrocalcinosis, the study presents a case of severe renal failure with uremic syndrome and bilateral nephrocalcinosis in a 50-day-old puppy. Despite intensive care, the puppy's condition deteriorated rapidly, leading to euthanasia.

Fear of hypoglycemia in parents of children with type 1 diabetes trained for intranasal glucagon use.

Objective: To investigate fear of hypoglycemia (FoH) in parents of children with type 1 diabetes (T1D) before and after undergoing training to learn intranasal (IN) glucagon administration.

Method: In this pre-test/post-test uncontrolled study 364 caregivers of patients with T1D (6-18 years) completed questionnaires measuring sociodemographic characteristics, diabetes-related factors (e.g.

Proteinuria and hematuria as early signs of renal involvement in juvenile idiopathic arthritis.

Objectives: To evaluate glomerular and tubular renal functions and analyze blood pressure in a cohort of pediatric patients with juvenile idiopathic arthritis (JIA).

Methods: A total of 40 pediatric patients, 20 (50%) with JIA and 20 (50%) healthy control subjects, were studied, and performed the renal function on 24-h collection and the 24-h ambulatory blood pressure monitoring (ABPM). Moreover, we compared renal function and blood pressure trends between the groups of JIA patients with different disease activities.

Viral pathogens in domestic cats in southern Italy: A retrospective analysis in Sicily, 2020-2022.

A retrospective study was carried out on selected feline viral pathogens detected in domestic cat in Sicily, southern Italy. Samples from 64 cats, collected from 2020 to 2022, were analysed for the presence of feline panleukopenia virus, canine parvovirus type 2 (CPV-2), feline coronavirus (FCoV), feline calicivirus (FCV), feline herpesvirus type 1, norovirus (NoV), and rotavirus (RoV). Single (45 %) or mixed (38 %) viral infections were detected.

Relacorilant in recurrent ovarian cancer: clinical evidence and future perspectives.

Introduction: Relacorilant (CORT125134, Corcept Therapeutics) is a selective glucocorticoid receptor modulator, which reverses the glucocorticoid-mediated anti-apoptotic effects and restores the taxane chemosensitivity in epithelial ovarian cancer cells. Given those preclinical findings, relacorilant is currently under investigation in clinical trials in combination with nab-paclitaxel for the platinum-resistant ovarian cancer setting.

Areas Covered: Already published preclinical and clinical evidence of relacorilant antitumor activity was analyzed and discussed.

Haematochemical Profile of Healthy Dogs Seropositive for Single or Multiple Vector-Borne Pathogens.

Background: the present study aimed to investigate the immunological response to common vector-borne pathogens and to evaluate their impact on haematochemical parameters in owned dogs.

Methods: Blood samples were collected from 400 clinically healthy dogs living in an endemic area (Sardinia Island, Italy). All dogs were serologically tested for VBDs and divided into groups based on their negative (Neg) or positive response towards (Ehrl), (Rick), (Leish), (Borr), (Anapl), and (Barto).

Impact of HLA-B51 on Uveitis and Retinal Vasculitis: Data from the AIDA International Network Registries on Ocular Inflammatory Disorders.

Purpose: The clinical relevance of human leukocyte antigen (HLA) subtypes such as HLA-B51 on Behçet's disease (BD)-related uveitis and non-infectious uveitis (NIU) unrelated to BD remains largely unknown.

Methods: Data were prospectively collected from the International AIDA Network Registry for BD and for NIU. We assessed differences between groups (NIU unrelated to BD and positive for HLA-B51, BD-related uveitis positive for HLA-B51 and BD-related uveitis negative for HLA-B51) in terms of long-term ocular complications, visual acuity (VA) measured by best corrected visual acuity (BCVA), anatomical pattern, occurrence of retinal vasculitis (RV) and macular edema over time.

The CHK1 inhibitor prexasertib in BRCA wild-type platinum-resistant recurrent high-grade serous ovarian carcinoma: a phase 2 trial.

The multi-cohort phase 2 trial NCT02203513 was designed to evaluate the clinical activity of the CHK1 inhibitor (CHK1i) prexasertib in patients with breast or ovarian cancer. Here we report the activity of CHK1i in platinum-resistant high-grade serous ovarian carcinoma (HGSOC) with measurable and biopsiable disease (cohort 5), or without biopsiable disease (cohort 6). The primary endpoint was objective response rate (ORR).

Intraoperative Isoflurane End-Tidal Concentration during Infusion of Fentanyl, Tramadol, or Fentanyl-Tramadol Combination in Cats.

The aim of this study was to evaluate the end-tidal concentration of isoflurane required, clinical parameters, intraoperative antinociceptive effect, and postoperative analgesia in cats undergoing ovariohysterectomy, receiving fentanyl, tramadol, or fentanyl/tramadol. Sixty-six cats in three groups, were premedicated with dexmedetomidine and infused with one of the following treatments: fentanyl, tramadol, or fentanyl/tramadol combination. Anesthesia was induced with alfaxolone and maintained with isoflurane, titrated to keep heart rate, respiratory rate and systolic arterial pressure within target values recorded at endotracheal intubation.

Influence of dietary supplementation with (Maca) on sperm quality in dogs.

Maca is a traditional Andean crop used as a nutraceutical for the fertility-enhancing properties that are linked with antioxidant activity. The aim of this study was to evaluate, for the first time, the potential beneficial effects of oral Maca ( or ) supplementation in improving reproductive performance in male dogs. Forty-eight male dogs of different breeds were enrolled in the study, fed the same maintenance diet, and exposed to the same environmental conditions.

Molecular epidemiology of canine parvovirus type 2 in Sicily, southern Italy: A geographical island, an epidemiological continuum.

Since it emerged as a major dog pathogen, canine parvovirus type 2 (CPV-2) has featured a remarkable genetic and phenotypic heterogeneity, whose biological, epidemiological, and clinical impact is still debated. The continuous monitoring of this pathogen is thus of pivotal importance. In the present study, the molecular epidemiology of CPV-2 in Sicily, southern Italy, has been updated by analysing 215 nearly complete sequences of the capsid protein VP2, obtained from rectal swabs/faeces or tissue samples collected between 2019 and 2022 from 346 dogs with suspected infectious gastrointestinal disease.

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.

: Pathogenic variants in the deleted in colorectal cancer gene (DCC), encoding the Netrin-1 receptor, may lead to mirror movements (MMs) associated with agenesis/dysgenesis of the corpus callosum (ACC) and cognitive and/or neuropsychiatric issues. The clinical phenotype is related to the biological function of DCC in the corpus callosum and corticospinal tract development as Netrin-1 is implicated in the guidance of developing axons toward the midline. We report on a child with a novel inherited, monoallelic, pathogenic variant in the DCC gene.

Improved quality of life and pain relief in mature horses with osteoarthritis after oral transmucosal cannabidiol oil administration as part of an analgesic regimen.

The aim of this study was to evaluate the effect of oral cannabidiol (CBD) administration in addition to a conventional analgesic protocol on the clinical signs of 20 horses with mild joint osteoarthritis. The horses were randomly assigned to either the control group (C group) or the cannabidiol group (CBD group). Both groups were treated with phenylbutazone for 5 days.