Transitioning From Nusinersen to Risdiplam for Spinal Muscular Atrophy in Clinical Practice: A Single-Center Experience.

Background: Nusinersen and risdiplam are U.S. Food and Drug Administration (FDA)-approved treatments for spinal muscular atrophy (SMA).

Psychometric evaluation of the PROMIS parent proxy mobility item bank for use in Duchenne muscular dystrophy.

Aim: To evaluate the psychometric properties and measurement quality of the Patient-Reported Outcomes Measurement Information System Parent Proxy (PROMIS PP) Mobility item bank (v1.0, 23 items) for children with Duchenne muscular dystrophy (DMD), through Rasch statistical analysis.

Method: De-identified PROMIS PP Mobility items were completed by the caregivers of male patients with DMD, aged 4 to 12 years, as part of standard clinical care at the Nationwide Children's Hospital clinic; data were mined retrospectively from electronic health records.

Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.

Objective: Limb-girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I), caused by variants in the fukutin-related protein (FKRP) gene leads to progressive muscle weakness of the shoulder and pelvic limb-girdles and loss of motor function over time. Clinical management and future trial design are improved by determining which standardized clinical outcome assessments (COA) of function are most appropriate to capture disease presentation and progression, informing endpoint selection and enrollment criteria. The purpose of our study was to evaluate the cross-sectional validity and reliability of clinical outcome assessments in patients with FKRP-related LGMDR9 participating in the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP) natural history study.

A systematic review on artificial intelligence approaches for smart health devices.

In the context of smart health, the use of wearable Internet of Things (IoT) devices is becoming increasingly popular to monitor and manage patients' health conditions in a more efficient and personalized way. However, choosing the most suitable artificial intelligence (AI) methodology to analyze the data collected by these devices is crucial to ensure the reliability and effectiveness of smart healthcare applications. Additionally, protecting the privacy and security of health data is an area of growing concern, given the sensitivity and personal nature of such information.

Food contamination from packaging material with special focus on the Bisphenol-A.

Additives, such as bisphenol A (BPA) that are added to packaging material to enhance functionality may migrate into food products creating a concern for food safety. BPA has been linked to various chronic diseases, such as: diabetes, obesity, prostate cancer, impaired thyroid function, and several other metabolic disorders. To safeguard consumers, BPA migration limits have been defined by regulatory bodies.

Development of a highly sensitive method based on QuEChERS and GC-MS/MS for the determination of polycyclic aromatic hydrocarbons in infant foods.

Polycyclic aromatic hydrocarbons (PAHs) are environmental contaminants that can be found in various food products, including those intended for infants. Due to their potential health risks, it is crucial to develop sensitive analytical methods for the accurate determination of PAHs in infant foods. This study describes the development and validation of a highly sensitive method for the quantification of European PAH markers, namely benzo[a]pyrene, benzo[a]anthracene, chrysene, and benzo[b]fluoranthene, using gas chromatography-tandem mass spectrometry (GC-MS/MS), in baby food samples.

Validity of remote live stream video evaluation of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.

Conducting functional assessments remotely can help alleviate the burden of in-person assessment on patients with Duchenne muscular dystrophy and their caregivers. The objective of this study was to evaluate whether scores from remote functional assessment of patients with Duchenne muscular dystrophy correspond to in-person scores on the same functional assessments. Remote live stream versus in-person scores on the North Star Ambulatory Assessment (including time [seconds] to complete the 10-meter walk/run and time to rise from the floor [supine to stand]) were assessed using statistical analyses, including intraclass correlation coefficient, and Pearson, Spearman, and Bland-Altman analyses.

Ambient floor vibration sensing advances the accessibility of functional gait assessments for children with muscular dystrophies.

Muscular dystrophies (MD) are a group of genetic neuromuscular disorders that cause progressive weakness and loss of muscles over time, influencing 1 in 3500-5000 children worldwide. New and exciting treatment options have led to a critical need for a clinical post-marketing surveillance tool to confirm the efficacy and safety of these treatments after individuals receive them in a commercial setting. For MDs, functional gait assessment is a common approach to evaluate the efficacy of the treatments because muscle weakness is reflected in individuals' walking patterns.

Microwave-Assisted Extraction/UHPLC-Q-Orbitrap-MS-Based Lipidomic Workflow for Comprehensive Study of Lipids in Soft Cheese.

In this work, Microwave-Assisted Extraction (MAE) was proposed as an alternative and environmentally friendly technique in lipidomics to study the lipid fingerprint of soft cheeses, such as mozzarella. For method development, a first step concerning an evaluation of extraction solvents was carried out via testing three different mixtures, including methanol/ethyl acetate, isopropanol/ethyl acetate, and ethanol/ethyl acetate, at a 1:2 / ratio. The latter was chosen as a solvent mixture for subsequent method optimization.

Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study.

Purpose: This single-arm prospective cohort study aimed to evaluate the feasibility and utility of in-home body weight support harness system (BWSS) use in children treated for spinal muscular atrophy (SMA).

Methods: Individuals with 2 or 3 copies of SMN2 who received pharmacotherapeutic treatment, had head control, and weight <50lbs were enrolled. Families were provided a BWSS and documented use.

Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study.

Single exon duplications account for disease in a minority of Duchenne muscular dystrophy patients. Exon skipping in these patients has the potential to be highly therapeutic through restoration of full-length dystrophin expression. We conducted a 48-week open label study of casimersen and golodirsen in 3 subjects with an exon 45 or 53 duplication.

Red Meat Heating Processes, Toxic Compounds Production and Nutritional Parameters Changes: What about Risk-Benefit?

The heating process is a crucial step that can lead to the formation of several harmful chemical compounds in red meat such as heterocyclic aromatic amines, N-Nitrosamines, polycyclic aromatic hydrocarbons and acrylamide. Meat has high nutritional value, providing essential amino acids, bioactive compounds and several important micronutrients which can also be affected by heating processes. This review aims to provide an updated overview of the effects of different heating processes on both the safety and nutritional parameters of cooked red meat.

Headspace Solid-Phase Microextraction/Gas Chromatography-Mass Spectrometry and Chemometric Approach for the Study of Volatile Profile in X-ray Irradiated Surface-Ripened Cheeses.

X-ray irradiation is an emerging non-thermal technology that is used as a preservation and sanitization technique to inactivate pathogens and spoilage organisms, increasing the shelf life of products. In this work, two different types of surface-ripened cheeses, Brie and Camembert, produced with cow milk, were treated with X-rays at three dose levels, 2.0, 4.

Monitoring of Animal Feed Contamination by Mycotoxins: Results of Five Years of Official Control by an Accredited Italian Laboratory.

Mycotoxin contamination of animal feed is a complex issue in both animal wellness and food safety. The most diffused mycotoxins subject to the official control of animal feed are Aflatoxin B1 (AF), Zearalenone (ZEA), Deoxynivalenol (DON), Ochratoxin A (OCRA), Fumonisins (FUMO), and T-2/HT-2 toxins. This work describes the results of five years of monitoring focused on the evaluation of mycotoxin contamination of animal feed.

Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.

Limb-girdle muscular dystrophy 2E/R4 is caused by mutations in the β-sarcoglycan (SGCB) gene, leading to SGCB deficiency and consequent muscle loss. We developed a gene therapy approach based on functional replacement of the deficient SCB protein. Here we report interim results from a first-in-human, open-label, nonrandomized, phase 1/2 trial evaluating the safety and efficacy of bidridistrogene xeboparvovec, an adeno-associated virus-based gene therapy containing a codon-optimized, full-length human SGCB transgene.

Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio.

5q spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by absence of the SMN1 gene with three FDA approved genetic therapies which significantly improve outcomes. The AAV9 mediated gene replacement therapy, onasemnogene abeparvovec, has the greatest potential for side effects. Here we report the safety and outcomes from 46 children treated with onasemnogene abeparvovec in the state of Ohio between December 2018 and January 2023.

Monitoring of polyphosphate levels in animal source products collected in Italy by means of ion chromatography with suppressed conductivity detection.

Polyphosphates (PPs) constitute a class of food additives widely used due to their ability to exercise different useful activities. The food safety concern about the use of PPs in food is both the possible non-declared addition and some health effects, such as bile duct stones, decrease in oligo-element absorption, and allergic reactions in susceptible people. In this study, an analytical method based on ion chromatography with conductivity detection was applied for the detection and quantification of PPs in 238 samples of animal-derived products such as meat, dairy, and fish products.

Assessment of Primary Human Liver Cancer Cells by Artificial Intelligence-Assisted Raman Spectroscopy.

We investigated the possibility of using Raman spectroscopy assisted by artificial intelligence methods to identify liver cancer cells and distinguish them from their Non-Tumor counterpart. To this aim, primary liver cells (40 Tumor and 40 Non-Tumor cells) obtained from resected hepatocellular carcinoma (HCC) tumor tissue and the adjacent non-tumor area (negative control) were analyzed by Raman micro-spectroscopy. Preliminarily, the cells were analyzed morphologically and spectrally.

Novel Approaches in Food Preservation and Their Impact on the Food System.

The increase in consumer demand for safe, convenient, and fresh food with an extended shelf life is accompanied by an interest in the environmental impacts caused by the food industry [...

WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.

Objective: We created WiTNNess as a hybrid prospective/cross-sectional observational study to simulate a clinical trial for infantile-onset TNNT1 myopathy. Our aims were to identify populations for future trial enrollment, rehearse outcome assessments, specify endpoints, and refine trial logistics.

Methods: Eligible participants had biallelic pathogenic variants of TNNT1 and infantile-onset proximal weakness without confounding conditions.

Long-term safety and functional outcomes of delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy: A phase 1/2a nonrandomized trial.

Introduction/aims: Delandistrogene moxeparvovec is indicated in the United States for the treatment of ambulatory pediatric patients aged 4 through 5 years with Duchenne muscular dystrophy (DMD) with a confirmed mutation in the DMD gene. Long-term delandistrogene moxeparvovec microdystrophin protein (a shortened dystrophin that retains key functional domains of the wild-type protein) expression may positively alter disease progression in patients with DMD. We evaluated long-term safety and functional outcomes of delandistrogene moxeparvovec in patients with DMD.

Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy.

Delandistrogene moxeparvovec (SRP-9001) is an investigational gene transfer therapy designed for targeted expression of SRP-9001 dystrophin protein, a shortened dystrophin retaining key functional domains of the wild-type protein. This Phase 2, double-blind, two-part (48 weeks per part) crossover study (SRP-9001-102 [Study 102]; NCT03769116) evaluated delandistrogene moxeparvovec in patients, aged ≥4 to <8 years with Duchenne muscular dystrophy. Primary endpoints (Part 1) were change from baseline (CFBL) in SRP-9001 dystrophin expression (Week 12), by Western blot, and in North Star Ambulatory Assessment (NSAA) score (Week 48).

Untargeted Lipidomics and Chemometric Tools for the Characterization and Discrimination of Irradiated Camembert Cheese Analyzed by UHPLC-Q-Orbitrap-MS.

In this work, an investigation using UHPLC-Q-Orbitrap-MS and multivariate statistics was conducted to obtain the lipid fingerprint of Camembert cheese and to explore its correlated variation with respect to X-ray irradiation treatment. A total of 479 lipids, categorized into 16 different lipid subclasses, were measured. Furthermore, the identification of oxidized lipids was carried out to better understand the possible phenomena of lipid oxidation related to this technological process.

Insulin purification-Innovation continuum via synthesis of fundamentals, technology, and modeling.

Advancement in all disciplines (art, science, education, and engineering) requires a careful balance of disruption and advancement of classical techniques. Often technologies are created with a limited understanding of fundamental principles and are prematurely abandoned. Over time, knowledge improves, new opportunities are identified, and technology is reassessed in a different light leading to a renaissance.