Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder.

ASD is a complex condition primarily rooted in genetics, although influenced by environmental, prenatal, and perinatal risk factors, ultimately leading to genetic and epigenetic alterations. These mechanisms may manifest as inflammatory, oxidative stress, hypoxic, or ischemic damage. To elucidate potential variances in gene expression in ASD, a transcriptome analysis of peripheral blood mononuclear cells was conducted via RNA-seq on 12 ASD patients and 13 healthy controls, all of Sicilian ancestry to minimize environmental confounds.

Assembly of the Genome of the Sea Urchin (Lamarck 1816).

The Mediterranean purple sea urchin (Lamarck 1816) is a remarkable model system for molecular, evolutionary and cell biology studies, particularly in the field of developmental biology. We sequenced the genome, performed a assembly, and analysed the assembly content. The genome of was sequenced using Illumina NextSeq 500 System (Illumina) in a 2 × 150 paired-end format.

A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

Parkinson's disease (PD) is a multisystem and multifactorial disorder and, therefore, the application of modern genetic techniques may assist in unraveling its complex pathophysiology. We conducted a clinical-demographic evaluation of 126 patients with PD, all of whom were Caucasian and of Sicilian ancestry. DNA was extracted from the peripheral blood for each patient, followed by sequencing using a Next-Generation Sequencing system.

Diagnostic imaging descriptions and prevalence of presumed phrenic lymph nodes in dogs.

The phrenic lymph node (PLN) has been described in bovine, equine, and feline anatomic references but descriptions in canine anatomic references are currently lacking. Authors have observed a well-defined, soft tissue attenuating, contrast-enhancing structure in a location consistent with previous anatomic descriptions of the PLN in dogs that underwent thoracic CT for neoplastic staging. The aims of this two-part, retrospective/prospective, anatomic, prevalence study were (1) to describe the presence of a soft tissue structure close to the thoracic caudal vena cava, defined as the presumed PLN, in a series of dogs that underwent CT as part of the staging for metastatic disease; (2) to confirm the lymphatic origin of the presumed PLN in a dog through postmortem examination; (3) to assess the prevalence of the presumed PLN in a population of dogs that underwent thoracic CT or MRI for different clinical purposes; and (4) to assess the possibility to visualize the presumed PLN with ultrasonography.

NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).

Background: Gerstmann Sträussler Scheinker (GSS) is an inherited, invariably fatal prion disease. Like other human prion diseases, GSS is caused by missense mutations in the prion protein (PrP) gene (PRNP), and by the formation and overtime accumulation of the misfolded, pathogenic scrapie PrP (PrPSc). The first mutation identified in the PRNP gene, and the one blamed as the main cause of the disease, is c.

Continuous positive airway pressure treatment improves bone mineral density in men affected by severe obstructive sleep apnea syndrome.

Study Objectives: Obstructive sleep apnea (OSA) and low bone mineral density (BMD) are 2 prevalent conditions with a significant negative impact on patients' well-being and quality of life. Recent research has shown low BMD at different bone sites in male patients with OSA. Although the efficacy of continuous positive airway pressure (CPAP) treatment for OSA has been widely demonstrated, the evidence for understanding its impact on BMD and other bone-related outcomes is insufficient.

Delayed non-selective contrast-enhanced CT can reveal spontaneous contrast enhancement of the lymphatic system in cats.

The authors incidentally observed that, on delayed postcontrast CT studies, feline patients could show increased attenuation of the lymphatic system. The aim of the present study was to evaluate if the lymphatic system of feline patients undergoing intravenous administration of contrast medium might consistently enhance on delayed postcontrast CT studies. Feline patients that underwent CT examination for variable diagnostic purposes were included in this multicentric observational descriptive study.

Multidetector-row CT features and histopathological analysis of pericardial recesses in dogs.

At the level of pericardial reflections and near the great thoracic vessels, pericardial recesses (PRs) are present, where fluid can collect to increase the pericardial reserve volume. To date, these structures have not been described in vivo in veterinary patients. The aims of this observational and descriptive study were to describe the location and appearance of PRs in dogs, as seen with multidetector-row CT (MDCT), and to develop a dedicated imaging technique for their best visualization.

CT features of primary bone neoplasia of the thoracic wall in dogs.

Primary thoracic wall neoplasia is uncommon in dogs and the prognosis depends on tumor type. The aims of this retrospective, multi-center, observational study were to describe CT features of primary thoracic wall neoplasia in dogs and to test the hypothesis that CT features would differ among tumor types. Dogs with a diagnosis of primary thoracic wall bone neoplasia and thoracic CT study were included.

CT Characteristics of the Thymus in Adult Dogs with Non-Thymic Neoplasia Compared to Young Dogs.

The thymus is a lymphatic mediastinal organ that is largely subject to changes with age. In human patients, the CT characteristics of the thymus in children and adults is well described. Furthermore, it is known in human medicine that stress can lead to a reduction in the size of the thymus, followed by a phase of hyperplasia (called the 'rebound effect').

Role and Dysregulation of miRNA in Patients with Parkinson's Disease.

Parkinson's disease (PD) is a neurodegenerative synucleinopathy that has a not yet fully understood molecular pathomechanism behind it. The role of risk genes regulated by small non-coding RNAs, or microRNAs (miRNAs), has also been highlighted in PD, where they may influence disease progression and comorbidities. In this case-control study, we analyzed miRNAs on peripheral blood mononuclear cells by means of RNA-seq in 30 participants, with the aim of identifying miRNAs differentially expressed in PD compared to age-matched healthy controls.

Multi-phase MULTIDETECTOR-row computed tomographic features and laboratory findings in dogs with gallbladder rupture.

Gallbladder rupture is a life-treating condition in dogs. In human medicine, multidetector-row computed tomography (MDCT) is considered the best modality for the diagnosis of gallbladder rupture. The aims of the study were to describe MDCT features of gallbladder rupture in dogs and to determine the CT findings and laboratory data that differ between dogs with ruptured biliary tree and dogs with biliary disease with no rupture.

Sternal lymphadenopathy in dogs with malignancy in different localizations: A CT retrospective study of 60 cases.

Sternal lymph nodes (SLNs) drain a multitude of regions in dogs, including the pectoral and shoulder region, the thoracic wall and mammary glands, the mediastinum, thymus, diaphragm, and the ventral abdominal wall and peritoneal cavity. Neoplastic conditions of these regions can lead to sternal lymphadenopathy. The aim of this study was to assess the most frequent localizations of the primary neoplasia and the most frequent tumor types in dogs with sternal lymphadenopathy.

Right auricle aneurysm in dogs can be detected with multidetector-row CT and presents with varying morphology.

Right auricle aneurysm (RAA) has been reported to be a rare congenital or acquired condition in dogs, however published CT characteristics are limited to a small number of cases. The aim of this 13-year, single-center, retrospective, cross-sectional study was to describe the prevalence and appearance of RAA in a larger group of dogs. Reports of 10,886 dogs that underwent thoracic CT examination for various reasons were reviewed.

Multidetector-Row CT Findings in Dogs with Different Primary Parathyroid Gland Diseases.

Primary hyperparathyroidism in dogs is a possibly life-threatening condition, characterized by the excess of parathyroid hormone (PTH) secretion, which leads to an increase in serum ionized calcium level. The utility of computed tomography (CT) in the detection and characterization of parathyroid diseases in dogs has not been assessed to date. Therefore, the aim of this study was to describe the use of multidetector-row CT (MDCT) for the diagnosis of parathyroid disease in dogs.

Use of Contrast-Enhanced Ultrasonography and Shear-Wave Elastography in the Diagnosis of Granulomatous Colitis in a French Bulldog.

An 11-month-old male intact French Bulldog was referred for chronic intermittent diarrhea lasting three months. Ultrasonographic (US) examination revealed severe thickening of the wall of the colon and caecum; contrast-enhanced US (CEUS) and elastography showed increased, heterogeneous vascularization and non-uniform stiffness of the colonic wall. The mucosa was thickened, fragile, and ulcerated as revealed by endoscopy, and histological examination confirmed the suspicion of granulomatous colitis.

CCR3 gene overexpression in patients with Down syndrome.

Chromosome 21 trisomy or Down syndrome (DS) is the most common genetic cause of intellectual disability (ID). DS is also associated with hypotonia, muscle weakness, autoimmune diseases, and congenital heart disease. C-C chemokine receptor type 3 (CCR3) plays a role in inflammatory, autoimmune, and neuronal migration mechanisms.

Design of an Innovative Methodology for Cerebrospinal Fluid Analysis: Preliminary Results.

Cerebrospinal fluid (CSF) analysis supports diagnosis of neurodegenerative diseases (NDs), however a number of issues limits its potentialities in clinical practice. Here, a newly developed technique for fluid voltammetry, relying on a simple sensor (BIOsensor-based multisensorial system for mimicking Nose, Tongue and Eyes, BIONOTE), was used to test the applicability for CSF analysis. BIONOTE was initially calibrated on an artificial CSF-like solution and then applied on human CSF, either immediately after collection or after refrigerated storage.

Multiphase multidetector-row computed tomographic and ultrasonographic findings in dogs with spontaneous liver lobe torsion.

Liver lobe torsion (LLT) is an uncommon condition of unknown origin in dogs. Several reports describe the clinical features and outcome, but only few of them include the imaging characteristics of this disease. The aim of this descriptive case series was to describe the ultrasonographic (US) and multidetector-row computed tomographic (MDCT) features of LLT in a group of dogs.

GPR56 gene down-regulation in patients with Klinefelter Syndrome: a candidate for infertility?

Background: The etiology of azoospermia in patients with Klinefelter Syndrome (KS) is still unknown. The protein codified by the G protein-couple receptor 56 (GPR56) belongs to the adhesion family of G protein-coupled receptors (GPRs). Its mutations are involved in the pathogenesis of intellectual disability and, according to animal studies, infertility.

Multiphase multidetector-row CT reveals different patterns of hepatic portal venous gas and pneumobilia.

Hepatic portal venous gas and pneumobilia (PB) are uncommon findings, indicating the accumulation of gas in the portal vein and its branches and in the biliary tree, respectively. Aims of this retrospective, descriptive study were to describe the computed tomographic (CT) features and visualization techniques of hepatic portal venous gas (HPVG) and PB in a group of small animal veterinary patients. The CT data of patients with HPVG and PB were retrospectively reviewed.

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.

mTOR dysregulation has been described in pathological conditions, such as cardiovascular and overgrowth disorders. Here we report on the first case of a patient with a complex congenital heart disease and an interstitial duplication in the short arm of chromosome 1, encompassing part of the mTOR gene. Our results suggest that an intragenic mTOR microduplication might play a role in the pathogenesis of non-syndromic congenital heart defects (CHDs) due to an upregulation of mTOR/Rictor and consequently an increased phosphorylation of PI3K/AKT and MEK/ERK signaling pathways in patient-derived amniocytes.

gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome.

Klinefelter syndrome (KS) is the most common sex chromosome disorder in men. It is characterized by germ cell loss and other variable clinical features, including autoimmunity. The sex-determining region of Y (SRY)-box 13 (Sox13) gene is expressed in mouse spermatogonia.

Use of Contrast-Enhanced Ultrasonography for the Characterization of Tumor Thrombi in Seven Dogs.

Tumors of adrenal and thyroid glands have been associated with vascular invasions-so-called tumor thrombi, both in humans and dogs. The detection and characterization of venous thrombi is an important diagnostic step in patients with primary tumors for both surgical planning and prognosis. The aim of this study was to describe the use of contrast-enhanced ultrasonography (CEUS) for the characterization of tumor thrombi.

The ultrasonographic medullary "rim sign" versus medullary "band sign" in cats and their association with renal disease.

Background: Medullary rim sign (MRS) refers to a hyperechoic line in the renal medulla, reported on ultrasound examination (US) in both dogs and cats with and without kidney disease (KD).

Objective: To describe the different aspects of MRS in cats and to assess its association with KD.

Animals: Cats that underwent US examination, with MRS (study group) with and without KD and without MRS with and without KD (control groups).