Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes.

Limb-girdle muscular dystrophy type 2E/R4 (LGMD2E/R4) is a rare disease that currently has no cure. It is caused by defects in the gene, mainly missense mutations, which cause the impairment of the sarcoglycan complex, membrane fragility, and progressive muscle degeneration. Here, we studied the fate of some β-sarcoglycan (β-SG) missense mutants, confirming that, like α-SG missense mutants, they are targeted for degradation through the ubiquitin-proteasome system.

Toward the Application of Dual-Energy Computed Tomography with Virtual Non-Hydroxyapatite Color-Coded Maps to Identify Traumatic Fractures in Daily Emergency Settings.

To evaluate the advantages of dual-energy computed tomography (DECT) virtual non-hydroxyapatite color mapping (VNHAP) in combination with standard bone CT (BCT) in the identification of subtle or occult traumatic fractures referred to emergency and acceptance departments (DEAs). Forty patients (22 men; mean age 83 ± 23.7 y) with suspected traumatic fractures referred to our emergency department and examined with a fast kilovoltage-switching single-source spectral CT scan between January and October 2023 were retrospectively reviewed.

Low-Carbon Monoxide Diffusing Capacity, Patient-Reported Measures and Reduced Nailfold Capillary Density Are Associated with Interstitial Lung Disease in Systemic Sclerosis.

Unlabelled: The aim of this paper is to identify factors associated with interstitial lung disease (ILD) in patients with systemic sclerosis (SSc) and build an algorithm to better define this association for a personalised application in clinical practice.

Methods: A total of 78 SSc patients underwent HRCT to assess ILD. Demographic, clinical and laboratory variables were collected, focusing on those associated either directly or indirectly with lung involvement.

The Clinical Utility of Lower Extremity Dual-Energy CT Angiography in the Detection of Bone Marrow Edema in Diabetic Patients with Peripheral Artery Disease.

(1) : Type 2 diabetes is a major cause of incidences and the progression of peripheral artery disease (PAD). Bone marrow edema (BME) is an important finding suggestive of underlying bone inflammation in non-traumatic diabetic patients with PAD. Our aim was to evaluate the presence, severity, and clinical implications of BME detected by virtual non-calcium application (VNCa) of dual-energy CT angiography (DE-CTA).

The ATTRACT study: screening for the early identification of axial psoriatic arthritis in a cohort of Italian psoriatic patients.

Objective: There is growing interest in the early identification of patients with axial PsA (axPsA). We aimed to evaluate whether a dermatology-based screening strategy could help to identify axPsA patients.

Methods: The dermatologist-centred screening (DCS) questionnaire was administrated by dermatologists to consecutive patients fulfilling the inclusion criteria [(i) age ≥18 years and (ii) clinical diagnosis of psoriasis made by a dermatologist] to identify patients eligible (affirmative answers 1-3c of the DCS) for rheumatological evaluation.

Modeling Sarcoglycanopathy in .

Sarcoglycanopathies, also known as limb girdle muscular dystrophy 3-6, are rare muscular dystrophies characterized, although heterogeneous, by high disability, with patients often wheelchair-bound by late adolescence and frequently developing respiratory and cardiac problems. These diseases are currently incurable, emphasizing the importance of effective treatment strategies and the necessity of animal models for drug screening and therapeutic verification. Using the CRISPR/Cas9 genome editing technique, we generated and characterized δ-sarcoglycan and β-sarcoglycan knockout zebrafish lines, which presented a progressive disease phenotype that worsened from a mild larval stage to distinct myopathic features in adulthood.

Synthesis and Evaluation of Bithiazole Derivatives As Potential α-Sarcoglycan Correctors.

4'-Methyl-4,5'-bithiazoles were previously identified as cystic fibrosis transmembrane regulator (CFTR) correctors, thus being able to correct folding defective mutants of the channel regulating chloride transport through the membrane. Additionally, bithiazole derivative was reported to recover α-sarcoglycan and . We report here the synthesis of two new derivatives of , in which the two sides of the bithiazole scaffold were modified.

The Psoriatic Arthritis 5-Thermometer Scales (PsA-5Ts): Measurement Properties of a New Multidimensional Composite Tool for the Quick Assessment of the Overall Health Status in Psoriatic Arthritis.

Background: Psoriatic arthritis (PsA) is a heterogeneous condition that is difficult to assess. The goal of this research was to evaluate the clinimetric properties of the Psoriatic Arthritis 5-Thermometer Scales (PsA-5Ts), a new patient-reported outcome (PRO) to measure the overall health status in PsA patients.

Methods: The PsA-5Ts were compared to composite measures of disease activity (DAPSA, PASDAS, CPDAI) and PROs (PsAID-12 and SF-36).

New Frontiers in Oncological Imaging With Computed Tomography: From Morphology to Function.

The latest evolutions in Computed Tomography (CT) technology have several applications in oncological imaging. The innovations in hardware and software allow for the optimization of the oncological protocol. Low-kV acquisitions are possible thanks to the new powerful tubes.

Quantification of sarcopenia in patients with rheumatoid arthritis by measuring the cross-sectional area of the thigh muscles with magnetic resonance imaging.

Purpose: To determine the utility of cross-sectional area (CSA) measurements on magnetic resonance imaging (MRI), at the level of the thigh muscles, to estimate muscle mass in discriminating rheumatoid arthritis (RA) patients with sarcopenia from those without.

Materials And Methods: Consecutive female RA patients were enrolled for this cross-sectional study. Patients were assessed for disease activity, radiological damage, handgrip strength, physical performance and for the presence of sarcopenia, identified in accordance with the EWGSOP2 criteria.

Exploiting HOPNO-dicopper center interaction to development of inhibitors for human tyrosinase.

In human, Tyrosinase enzyme (TyH) is involved in the key steps of protective pigments biosynthesis (in skin, eyes and hair). The use of molecules targeting its binuclear copper active site represents a relevant strategy to regulate TyH activities. In this work, we targeted 2-Hydroxypyridine-N-oxide analogs (HOPNO, an established chelating group for the tyrosinase dicopper active site) with the aim to combine effects induced by combination with a reference inhibitor (kojic acid) or natural substrate (tyrosine).

Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle.

Congenital pseudomyotonia in cattle (PMT) is a rare skeletal muscle disorder, clinically characterized by stiffness and by delayed muscle relaxation after exercise. Muscle relaxation impairment is due to defective content of the Sarco(endo)plasmic Reticulum Ca ATPase isoform 1 (SERCA1) protein, caused by missense mutations in the gene. PMT represents the only mammalian model of human Brody myopathy.

Ultrasound and magnetic resonance imaging as diagnostic tools for sarcopenia in immune-mediated rheumatic diseases (IMRDs).

Sarcopenia is characterized by loss of muscle mass, altered muscle composition, fat and fibrous tissue infiltration, and abnormal innervation, especially in older individuals with immune-mediated rheumatic diseases (IMRDs). Several techniques for measuring muscle mass, strength, and performance have emerged in recent decades. The portable dynamometer and gait speed represent the most frequently used tools for the evaluation of muscle strength and physical efficiency, respectively.

The value of ultrasound and magnetic resonance imaging scoring systems in explaining handgrip strength and functional impairment in rheumatoid arthritis patients: a pilot study.

Purpose: The goal of this study is to investigate the relationship between joint inflammation and damage of the wrists and hands, measured by semiquantitative ultrasound and magnetic resonance imaging scoring systems, with functional disability and handgrip strength (HGs).

Materials And Methods: Consecutive adult RA patients with active disease, as defined by a Disease Activity Score 28 joints C-reactive protein (DAS28-CRP) > 3.2, underwent a cross-sectional evaluation comprehensive of a clinimetric assessment, an HGs evaluation, an ultrasound assessment aimed at calculating the UltraSound-CLinical ARthritis Activity (US-CLARA), and a magnetic resonance imaging scored according to the modified Simplified Rheumatoid Arthritis Magnetic Resonance Imaging Score (mod SAMIS).

Early response to JAK inhibitors on central sensitization and pain catastrophizing in patients with active rheumatoid arthritis.

Objectives: To evaluate the effect of 4 weeks of treatment with Janus kinase inhibitors (JAKis) on central sensitization (CS) and pain catastrophizing, and to determine the pain-related variables predictive of disease activity improvement, in patients with active rheumatoid arthritis (RA).

Methods: Consecutive RA patients with active disease starting a JAKi have been enrolled in this prospective observational study. Patients have been assessed at baseline and after 4 weeks of treatment.

A retrospective study of the efficacy of JAK inhibitors or abatacept on rheumatoid arthritis-interstitial lung disease.

Objectives: To examine the effectiveness of Janus-kinase inhibitors (JAKis) or abatacept (ABA) in patients with rheumatoid arthritis-interstitial lung disease (RA-ILD).

Methods: Patients with RA-ILD receiving JAKis or ABA were retrospectively evaluated at baseline and after 18 months of treatment. A computer-aided method (CaM) was used to assess the extent of high-resolution computed tomography (HRCT) fibrosis percentage.

Handgrip Strength Features in Rheumatoid Arthritis Patients Assessed Using an Innovative Cylindrical-Shaped Device: Relationships With Demographic, Anthropometric and Clinical Variables.

To investigate the relationship between handgrip strength (HGs) features, evaluated with an innovative cylindrical-shaped grip device, and demographic, anthropometric and clinical variables, in patients with rheumatoid arthritis (RA). Consecutive RA patients were prospectively enrolled for this cross-sectional study. For each patient were collected demographic, anthropometric, clinical data related to disease activity.

Quantification of bone marrow oedema and fat metaplasia in sacroiliac joints in spondyloarthritis patients using histographic magnetic resonance imaging analysis.

Objectives: To demonstrate a possible basis for a quantitative magnetic resonance imaging (MRI) approach that uses histographic analysis to determine bone marrow oedema (BME) and fat metaplasia at sacroiliac joints (SIJs) level in patients with axial spondyloarthritis (axSpA).

Methods: In this prospective, cross-sectional study, consecutive axSpA patients with inflammatory low back pain underwent 1.5-T MRI.