Ribitol and ribose treatments differentially affect metabolism of muscle tissue in FKRP mutant mice.

Dystroglycanopathy is characterized by reduced or lack of matriglycan, a cellular receptor for laminin as well as other extracellular matrix proteins. Recent studies have delineated the glycan chain structure of the matriglycan and the pathway with key components identified. FKRP functions as ribitol-5-phosphate transferase with CDP-ribitol as the substrate for the extension of the glycan chain.

Towards Green Dentistry: Evaluating the Potential of 4D Printing for Sustainable Orthodontic Aligners with a Reduced Carbon Footprint.

Clear aligners have transformed orthodontic care by providing an aesthetic, removable alternative to traditional braces. However, their significant environmental footprint, contributing to approximately 15,000 tons of plastic waste annually, poses a critical challenge. To address this issue, advancements in 4D printing have introduced "smart" aligners with shape memory properties, enabling reshaping and reducing the number of aligners required per treatment.

Universal, School-Based Mental Health Literacy Programs for Middle School Students: A Scoping Review.

Background: Universal, classroom-based mental health literacy (MHL) curricula are associated with improved mental health knowledge, attitudes, and help-seeking behaviors. Young adolescents are an ideal target given their need for and receptivity toward MHL education.

Methods: We conducted a scoping review to identify universal, school-based MHL programs primarily for students aged 10-14 years, with adequate descriptions of curriculum implementation and content, and measured outcomes.

Could chronic opioid use be an additional risk of hepatic damage in patients with previous liver diseases, and what is the role of microbiome?

Among illicit drugs, addiction from opioids and synthetic opioids is soaring in an unparalleled manner with its unacceptable amount of deaths. Apart from these extreme consequences, the liver toxicity is another important aspect that should be highlighted. Accordingly, the chronic use of these substances, of which fentanyl is the most frequently consumed, represents an additional risk of liver damage in patients with underlying chronic liver disease.

A Close Relationship Between Ultra-Processed Foods and Adiposity in Adults in Southern Italy.

Background/objectives: One of the main culprits of the obesity epidemic is the obesogenic food environment, which promotes the consumption of ultra-processed foods (UPFs) that are highly palatable, have low nutritional quality and a high caloric impact and are economical and ready to use. This monocentric retrospective study explored the association between UPFs, obesity and adiposity measurements among adults living with obesity in Southern Italy.

Methods: According to their Body Mass Index (BMI) values, 175 participants (63M) were recruited and stratified into three groups.

Neurophysiological Assessment in Children with Vocal Fold Paralysis: A Tertiary Center Experience.

Objective: The aim of this study is to report on experience acquired during the laryngeal electrophysiological assessment with Co-MEP and L-EMG in pediatric patients with acquired, congenital, and syndromic vocal fold paralysis (VFP), and correlate our findings with patients' characteristics, their comorbidities, and VFP etiology.

Methods: Pediatric patients with suspected or previously diagnosed unilateral or bilateral VFP underwent electrophysiological records under general anesthesia; corticobulbar motor-evoked potentials (Co-MEPs) and laryngeal electromyography (L-EMG) of thyroarytenoid (TA) and posterior cricoarytenoid (PCA) muscles were recorded.

Results: Statistical analysis revealed a statistically significant correlation between early gestational age at childbirth and TA muscle intensity (p = 0.

Optimizing Integration with the Italian EHR: The Use of LOINC Codes.

According to the regulation "Decreto del Presidente del Consiglio dei Ministri" (DPCM) of September 29, 2015, n.178, the Logical Observation Identifiers Names and Codes (LOINC) system is included among the coding systems adopted in the Italian Electronic Health Record (EHR). As part of the Digital Health Solutions in Community Medicine (DHEAL-COM) project, one key goal is to categorize parameters using international classification systems.

Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.

Background: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. Although the typical disease onset is reported in the second decade, earlier onsets are not uncommon. To date, few studies on pediatric populations have been conducted and the achievement of molecular diagnosis remains challenging.

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.

Dystroglycanopathies are a group of muscle degenerative diseases characterized with significant reduction in matriglycan expression critical in disease pathogenesis. Missense point mutations in the Fukutin-related protein (FKRP) gene cause variable reduction in the synthesis of matriglycan on alpha-dystroglycan (α-DG) and a wide range of disease severity. Data analyses of muscle biopsies from patients fail to show consistent correlation between the levels of matriglycan and clinical phenotypes.

Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review.

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays.

Atherosclerosis and Its Related Laboratory Biomarkers.

Atherosclerosis constitutes a persistent inflammatory ailment, serving as the predominant underlying condition for coronary artery disease (CAD), peripheral artery disease (PAD), and cerebrovascular disease. The progressive buildup of plaques within the walls of medium- and large-caliber arteries characterizes the atherosclerotic process. This accumulation results in significant narrowing that impedes blood flow, leading to critical tissue oxygen deficiency.

Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I.

Mutations in the fukutin-related protein (FKRP) gene cause dystroglycanopathy, with disease severity ranging from mild LGMD2I to severe congenital muscular dystrophy. Recently, considerable progress has been made in developing experimental therapies, with adeno-associated virus (AAV) gene therapy and ribitol treatment demonstrating significant therapeutic effect. However, each treatment has its strengths and weaknesses.

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Background And Aims: POLR3B gene encodes a subunit of RNA polymerase III (Pol III). Biallelic mutations in POLR3B are associated with leukodystrophies, but recently de novo heterozygous mutations have been described in early onset peripheral demyelinating neuropathies with or without central involvement. Here, we report the first Italian case carrying a de novo variant in POLR3B with a pure neuropathy phenotype and primary axonal involvement of the largest nerve fibers.

PROWIS: A Visual Approach for Building, Managing, and Analyzing Weather Simulation Ensembles at Runtime.

Weather forecasting is essential for decision-making and is usually performed using numerical modeling. Numerical weather models, in turn, are complex tools that require specialized training and laborious setup and are challenging even for weather experts. Moreover, weather simulations are data-intensive computations and may take hours to days to complete.

Pharmacomicrobiomics of Classical Immunosuppressant Drugs: A Systematic Review.

The clinical response to classical immunosuppressant drugs (cIMDs) is highly variable among individuals. We performed a systematic review of published evidence supporting the hypothesis that gut microorganisms may contribute to this variability by affecting cIMD pharmacokinetics, efficacy or tolerability. The evidence that these drugs affect the composition of intestinal microbiota was also reviewed.

Identification of Drugs Acting as Perpetrators in Common Drug Interactions in a Cohort of Geriatric Patients from Southern Italy and Analysis of the Gene Polymorphisms That Affect Their Interacting Potential.

Background: Pharmacogenomic factors affect the susceptibility to drug-drug interactions (DDI). We identified drug interaction perpetrators among the drugs prescribed to a cohort of 290 older adults and analysed the prevalence of gene polymorphisms that can increase their interacting potential. We also pinpointed clinical decision support systems (CDSSs) that incorporate pharmacogenomic factors in DDI risk evaluation.

Development of multi-scale indices of human mobility restriction during the COVID-19 based on air quality from local and global NO concentration.

This study investigated whether variability in air quality, especially related to vehicular emissions, during the COVID-19 pandemic could indicate social distancing. Data from measurements and satellite estimates were used. The study areas were São Paulo, Brazil, and Bologna, Italy.

A Pharmacovigilance Study on the Safety of Axicabtagene Ciloleucel Based on Spontaneous Reports from the EudraVigilance Database.

During pre-approval clinical trials, the safety of axi-cel, a second-generation CAR-T-cell therapy directed against CD19, which dramatically improved the prognosis of intractable B-cell lymphomas, has been investigated only in about 400 patients. Therefore, additional information on this issue is urgently needed. In the present paper, we evaluated the 2905 ICSRs with axi-cel as the suspected drug that had been uploaded in the EudraVigilance database from 1 January 2018 to 31 December 2022.

Combined use of handgrip strength and hemoglobin as markers of undernutrition in patients with stage 3-5 chronic kidney disease.

Background And Aims: The early identification of undernourished patients with CKD could help instating appropriate nutritional intervention before the full development of the threatening condition known as Protein Energy Wasting (PEW). Handgrip strength (HGS) and blood hemoglobin (Hb) concentration are two parameters considered representative of nutritional status but not included among the criteria for PEW diagnosis. In the present work we investigated whether they could help identifying CKD patients at risk of undernutrition.

Probiotics and Prebiotics: Any Role in Menopause-Related Diseases?

Purpose Of Review: The aim of this review is to provide an overview of the menopause-related changes in microbiota and their role in the pathogenesis of menopause-related diseases. In addition, evidence on probiotic supplementation as a therapeutic strategy is discussed.

Recent Findings: The human microbiota is a complex community that lives in a mutualism relationship with the host.

Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.

Introduction: Pyruvate dehydrogenase complex (PDH) deficiency (Online Mendelian Inheritance in Man # 312170) is a relatively common mitochondrial disorder, caused by mutations in the X-linked gene and presenting with a variable phenotypic spectrum, ranging from severe infantile encephalopathy to milder chronic neurological disorders.Isolated peripheral neuropathy as predominant clinical presentation is uncommon.

Results: We report on a patient, now 21 years old, presenting at the age of 2 years with recurrent symmetric weakness as first symptom of a PDH deficiency.

Could Alcohol Abuse and Dependence on Junk Foods Inducing Obesity and/or Illicit Drug Use Represent Danger to Liver in Young People with Altered Psychological/Relational Spheres or Emotional Problems?

Recent data show that young people, mainly due to the pressure of some risk factors or due to disrupted interpersonal relationships, utilise greater reward value and display greater sensitivity to the reinforcing properties of "pleasurable stimuli", specifically in those situations in which an enhanced dopamine release is present. Alcoholic beverages, foods rich in sugar and fat, and illicit drug use are pleasurable feelings associated with rewards. Research shows that there is a link between substance abuse and obesity in brain functioning.

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.

Aims: SPTLC1-related disorder is a late onset sensory-autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl-CoA transferase (SPT) substrate, l-serine. Recently, a juvenile form of motor neuron disease has been linked to SPTLC1 variants. Variants affecting the p.