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Abstract Background Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus proved to be an effective method to detect epigenetic signatures compatible with FSHD. The present study aims at validating the employment of this method into clinical practice and improving the protocol by refining the classification thresholds of 4qA/4qA patients. To this purpose, 218 subjects with clinical suspicion of FSHD collected in 2022–2023 were analyzed. Each participant underwent in parallel the traditional FSHD molecular testing (D4Z4 sizing) and the proposed methylation assay. The results provided by both analyses were compared to evaluate the concordance and calculate the performance metrics of the methylation test. Results Among the 218 subjects, the 4q variant type distribution was 54% 4qA/4qA, 43% 4qA/4qB and 3% 4qB/4qB. The methylation analysis was performed only on carriers of at least one 4qA allele. After refining the classification threshold, the test reached the following performance metrics: sensitivity = 0.90, specificity = 1.00 and accuracy = 0.93. These results confirmed the effectiveness of the methylation assay in identifying patients with genetic signature compatible with FSHD1 and FSHD2 based on their DUX4-PAS and DR1 profile, respectively. The methylation data were also evaluated with respect to the clinical information. Conclusions The study confirmed the ability of the method to accurately identify methylation profiles compatible with FSHD genetic signatures considering the 4q genotype. Moreover, the test allows the detection of hypomethylated profiles in asymptomatic patients, suggesting its potential application in identifying preclinical conditions in patients with positive family history and FSHD genetic signatures. Furthermore, the present work emphasizes the importance of interpreting methylation profiles considering the patients’ clinical data.

This article introduces a novel approach to remote laboratory instruction, specifically designed for teaching three-dimensional modeling using Blender software. The lab uses virtual machines to provide students with the necessary computational power to carry out the course activities, along with the correct version of the software. The flipped remote lab approach combines the elements of flipped classroom and peer assessment, making it suitable for face-to-face, totally online, or hybrid classes. Prior to each of the two lectures, students begin to practice by replicating the instructor's demonstrations in a set of concise tutorials. Upon completion of the assigned tasks, students carry out self-assessments of their own modeling, in addition to assessing two models created by their peers. A rubric comprising three questions facilitates the assessment process and allows providing feedback on each response. During the subsequent lecture, students work together with the instructor to address challenges encountered in their modeling, exploring also the advanced aspects of software usage that time constraints preclude in a traditional setting. The analysis of the flipped remote lab results reveals that student responses in peer-assessment activities are relevant to the posed questions. Moreover, the students who realized the models demonstrated a comparable level of rigor in self-assessment as their mates who reviewed their works. While students express a high degree of appreciation for the laboratory activities, a notable concern is the highlighted heavy workload. Increasing the allocated time for task completion can help mitigate the workload impact. The article concludes with insights gained from the implementation of the flipped remote lab approach.

Abstract Background Honey bees are the principal commercial pollinators. Along with other arthropods, they are increasingly under threat from anthropogenic factors such as the incursion of invasive honey bee subspecies, pathogens and parasites. Better tools are needed to identify bee subspecies. Genomic data for economic and ecologically important organisms is increasing, but in its basic form its practical application to address ecological problems is limited. Results We introduce HBeeID a means to identify honey bees. The tool utilizes a knowledge-based network and diagnostic SNPs identified by discriminant analysis of principle components and hierarchical agglomerative clustering. Tests of HBeeID showed that it identifies African, Americas-Africanized, Asian, and European honey bees with a high degree of certainty even when samples lack the full 272 SNPs of HBeeID. Its prediction capacity decreases with highly admixed samples. Conclusion HBeeID is a high-resolution genomic, SNP based tool, that can be used to identify honey bees and screen species that are invasive. Its flexible design allows for future improvements via sample data additions from other localities.

Esta resenha traz uma análise descritiva e crítica sobre o livro "Olhar Atento: Como Incentivar os Alunos a Aprender por Meio da Observação", de Shari Tishman, uma obra que convida educadores a redescobrirem a profundidade do ato de observar. Tishman mostra que a observação cuidadosa é um processo que envolve intensas atividades cognitivas que estimulam pensamento crítico e criatividade e são fundamentais não apenas para a aprendizagem acadêmica, mas para a formação de seres humanos atentos e empáticos. Além disso, propõe estratégias concretas para desenvolver, em sala de aula, essa prática que ela considera essencial para a aprendizagem significativa.

“Comunicazione Digitale XR” is a project that exploits the EON-XR platform to enrich Information Technology education by incorporating interactive 360-degree visuals and 3D models to complement traditional teaching methods. This study probes the efficacy of Extended Reality (XR) technologies in augmenting educational experiences through the integration of gamification techniques within the curriculum. The evaluation, involving twenty-six students, delved into factors such as engagement levels, comprehension of material, and the contributory role of XR in exam readiness. Data collection was conducted using electronic log files, which provided detailed quantitative metrics on student interactions, and a post-intervention survey that assessed changes in comprehension and engagement. Additionally, qualitative data was gathered through semi-structured interviews. Quantitative data from surveys and log files were analyzed using descriptive statistics, while qualitative data from interviews were subjected to thematic analysis. This investigation has demonstrated substantial enhancements in student comprehension and engagement with the educational content facilitated by XR technologies. These findings underscore the potential of XR to augment the educational paradigm and improve students’ preparedness for academic evaluations.

We report the case of a young male patient who presented to our emergency department complaining of a transient headache and a feeling of motor impairment in his right lower limb, both of which completely resolved spontaneously. After a few minutes of his arrival, he developed a locked-in sensation with anxiety and agitation, followed by a rapid onset of left facio-brachio-crural hemisyndrome. Contrast-enhanced CT of the brain and neck showed the occlusion of the proximal-intermediate basilar artery. Acute basilar artery occlusion (BAO) is a rare life-threatening stroke that requires prompt diagnosis and appropriate treatment to avoid rapid fatal complications (coma and death). The prognosis is poor, with long-lasting sequelae in the survivors. The diagnosis is often difficult since BAO accounts for only 1% of all strokes, and the prodromal symptoms are often very mild, transient, and non-specific, such as nausea, dizziness, headache, confusion, and vertigo. In the presence of convulsion-like symptoms or an unexplained altered level of consciousness, emergency physicians should always consider BAO in the differential diagnosis.

Peripheral nerve damage often leads to the onset of neuropathic pain (NeuP). This condition afflicts millions of people, significantly burdening healthcare systems and putting strain on families’ financial well-being. Here, we will focus on the role of peripheral sensory neurons, specifically the Dorsal Root Ganglia neurons (DRG neurons) in the development of NeuP. After axotomy, DRG neurons activate regenerative signals of axons-soma communication to promote a gene program that activates an axonal branching and elongation processes. The results of a neuronal morphological cytoskeleton change are not always associated with functional recovery. Moreover, any axonal miss-targeting may contribute to NeuP development. In this review, we will explore the epidemiology of NeuP and its molecular causes at the level of the peripheral nervous system and the target organs, with major focus on the neuronal cross-talk between intrinsic and extrinsic factors. Specifically, we will describe how failures in the neuronal regenerative program can exacerbate NeuP.

AbstractHyperthyroidism is considered the most common endocrinopathy in middle-aged and old cats. The increased level of thyroid hormones influences many organs, including the heart. Cardiac functional and structural abnormalities in cats with hyperthyroidism have indeed been previously described. Nonetheless, myocardial vasculature has not been subjected to analysis. Also, no comparison with hypertrophic cardiomyopathy has been previously described. Although it has been shown that clinical alterations resolve after the treatment of hyperthyroidism, no detailed data have been published on the cardiac pathological or histopathological image of field cases of hyperthyroid cats that received pharmacological treatment. The aim of this study was to evaluate the cardiac pathological changes in feline hyperthyroidism and to compare them to alterations present in cardiac hypertrophy due to hypertrophic cardiomyopathy in cats. The study was conducted on 40 feline hearts divided into three groups: 17 hearts from cats suffering from hyperthyroidism, 13 hearts from cats suffering from idiopathic hypertrophic cardiomyopathy and 10 hearts from cats without cardiac or thyroid disease. A detailed pathological and histopathological examination was performed. Cats with hyperthyroidism showed no ventricular wall hypertrophy in contrast to cats with hypertrophic cardiomyopathy. Nonetheless, histological alterations were similarly advanced in both diseases. Moreover, in hyperthyroid cats more prominent vascular alterations were noted. In contrast to hypertrophic cardiomyopathy, the histological changes in hyperthyroid cats involved all ventricular walls and not mainly the left ventricle. Our study showed that despite normal cardiac wall thickness, cats with hyperthyroidism show severe structural changes in the myocardium.

The growing field of nanotechnology impacts many research areas, such as engineering, electronics, energy, environment, biology, and medicine [...]

Objective A shared consensus on the safety about physical agent modalities (PAMs) practice in physiotherapy and rehabilitation is lacking. We aimed to develop evidence-informed and consensus-based statements about the safety of PAMs.Study design and setting A RAND-modified Delphi Rounds’ survey was used to reach a consensus. We established a steering committee of the Italian Association of Physiotherapy (Associazione Italiana di Fisioterapia) to identify areas and questions for developing statements about the safety of the most commonly used PAMs in physiotherapy and rehabilitation. We invited 28 National Scientific and Technical Societies, including forensics and lay members, as a multidisciplinary and multiprofessional panel of experts to evaluate the nine proposed statements and formulate additional inputs. The level of agreement was measured using a 9-point Likert scale, with consensus in the Delphi Rounds assessed using the rating proportion with a threshold of 75%.Results Overall, 17 (61%) out of 28 scientific and technical societies participated, involving their most representative members. The panel of experts mainly consisted of clinicians (88%) with expertise in musculoskeletal (47%), pelvic floor (24%), neurological (18%) and lymphatic (6%) disorders with a median experience of 30 years (IQR=17–36). Two Delphi rounds were necessary to reach a consensus. The final approved criteria list comprised nine statements about the safety of nine PAMs (ie, electrical stimulation neuromodulation, extracorporeal shock wave therapy, laser therapy, electromagnetic therapy, diathermy, hot thermal agents, cryotherapy and therapeutic ultrasound) in adult patients with a general note about populations subgroups.Conclusions The resulting consensus-based statements inform patients, healthcare professionals and policy-makers regarding the safe application of PAMs in physiotherapy and rehabilitation practice. Future research is needed to extend this consensus on paediatric and frail populations, such as immunocompromised patients.

A 91-year-old man presented at our emergency room complaining of sialorrhea and facial edema, especially around his lips and palpebral region. The symptoms started in the morning and got worse over two hours. He had a history of hypertension and hypokinetic ischemic cardiomyopathy treated with ramipril, doxazosin, aspirin, furosemide, amiodarone, ranolazine, atorvastatin, and pantoprazole. He referred an allergy to clopidogrel. He did not introduce any novel medications or foods. His vital signs were BP 150/70, HR 57 bpm, sO2 97% in room ambient, RR 18/min, and BT 36.4 °C. He presented a severe edema of the tongue with tirage and cornage. He was immediately treated IV with hydrocortisone 1 g chlorpheniramine maleate 10 mg, and icatibant 30 mg SC and he was intubated through the nose.

Contribution: This article shows that peer instruction can be applied synchronously and effectively to a distance learning course, using the learning platform Moodle together with a videoconferencing tool. Background: Due to the COVID-19 pandemic, all global education has been shifted from face-to-face to distance learning. While the debate on the effectiveness of active learning alternatives to the traditional lectures was still going on, the teachers found themselves facing a further difficulty: how to engage the students in a totally online learning process, where personal contact is completely lacking. The authors found the answer in the online application of peer instruction. Intended Outcomes: The use of online peer instruction (OPI) is expected to engage all the students attending the online lectures in an active learning process, improving their understanding of the topics covered at the same time. Application Design: The use of Moodle has made it possible to bring the peer instruction method online. The appropriate setup of Moodle's Choice and Workshop activities was sufficient to manage the whole process from a technical standpoint, with the teacher managing the communication aspect, via the videoconferencing tool used to give the lectures. Findings: The application of OPI engaged all the students in the online lectures and proved to be effective in improving students' understanding of the topics covered.

Ketamine is a fast-acting N-methyl-D-aspartate (NMDA) receptor antagonist that can be used in a range of clinical scenarios in the pre-hospital setting and emergency department (ED). When compared with other anesthetic agents, ketamine has many unique properties, such as the ability to produce dose-dependent analgesic and anesthetic effects with a wide margin of safety. Ketamine may be used in the ED for sedation, pain management, and acute agitation treatment in the cases of benzodiazepine (BDZ)-resistant alcohol withdrawal syndrome (AWS) and substance use disorder. To highlight the efficacy and safety of ketamine, we reviewed the literature, starting with a description of four different cases of patients who presented to our ED and were treated with ketamine.

Methemoglobinemia (MET) is a life-threatening condition resulting from the development of methemoglobin (MetHb), which binds oxygen irreversibly, causing refractory hypoxia and so-called “functional anemia”. MET can be caused by hereditary or acquired processes. Acquired forms are the most common. Symptoms correlate with the MetHb level and range from cyanosis and dyspnea to dysrhythmias, metabolic acidosis, coma, and cardiac arrest. MetHb levels above 70% are fatal. Methylene blue (MB) is the specific antidote. In all cases, supportive treatment, including intravenous hydration, glucose correction, and oxygen supplementation, must be started immediately. Exchange transfusion has been used successfully to treat MET and may be appropriate in patients for whom MB is ineffective. We report the case of a 54-year-old woman who presented to our emergency department for the acute and sudden development of chest pain, shortness of breath, and severe cyanosis after drinking a significant amount of boiled courgette water. Arterial blood gas analysis revealed a MetHb level of 26%. She was treated immediately with MB, oxygen supplementation, and hydration with normalization of her MetHb in 12 hours. Our recommendation is to always investigate MET in patients with unexplained cyanosis and refractory hypoxia.

Desde a década de 1980, a categoria avaliação tem sido muito estudada no mundo inteiro. Tal temática está sempre presente nos cursos de formação inicial e permanente de professores, em propostas de candidatos para ingressarem nos Programas de Pós-Graduação stricto sensu em Educação, em eventos científicos e em inúmeros artigos publicados em diversas revistas científicas da área educacional. Tal questão aponta que discutir a avaliação institucional e da aprendizagem não é tarefa fácil e merece cuidado por parte dos profissionais e pesquisadores por tratar-se de um tema que pode afetar positiva e/ou negativamente a instituição escolar e a trajetória acadêmica de crianças e adolescentes. Esta edição da Dialogia tem como objetivo disseminar o conhecimento e debate acadêmico sobre avaliação institucional e da aprendizagem, abordando questões relevantes e desafiadoras sobre o tema. A avaliação institucional é um debate crucial na educação, pois cumpre um papel fundamental na garantia da qualidade em todas as etapas do ensino e na melhoria constante das instituições educacionais. Esse processo não se restringe apenas à mensuração do desempenho das crianças e jovens, mas abrange também uma série de aspectos que influenciam a experiência da aprendizagem, como a eficácia dos métodos de ensino, o engajamento de professores e alunos no processo, a infraestrutura da instituição entre outros elementos. A avaliação da aprendizagem desempenha um papel fundamental no sistema educacional, pois é por meio dela que compreendemos o progresso e as necessidades de cada criança e adolescente. Ela vai além das notas e dos exames, engloba a avaliação formativa, do currículo entre outros aspectos, cruciais para o aprimoramento da qualidade em educação. Buscamos promover a diversidade de perspectivas e abordagens sobre a temática abordada para construir uma comunidade de pesquisa que esteja voltada para a melhoria dos processos avaliativos e elevar a qualidade da educação oferecida em todas as etapas do ensino básico. Iniciamos com a entrevista concedida pela Professora Marilia Macorin de Azevedo, Doutora em Engenharia pela Universidade de São Paulo (USP). Mestre em Qualidade pela Universidade de Campinas (UNICAMP). Graduada em Tecnologia de Processamento de Dados pela FATEC SP. É docente permanente na Unidade de Pós-graduação, Extensão e Pesquisa do Centro Estadual de Educação Tecnológica Paula Souza (CEETEPS) atuando no Mestrado Profissional em Gestão e Tecnologia em Sistemas Produtivos e no Mestrado Profissional em Gestão e Desenvolvimento da Educação Profissional – ambos do CEETEPS. Na seção Dossiê, encontram-se artigos que trazem à tona especificidades do tema, tais como: avaliação para as aprendizagens na educação profissional e tecnológica; percepções sobre o processo avaliativo durante o ensino remoto e híbrido; o papel da família e das instituições no processo educativo de alunos com necessidades especiais; políticas de avaliação institucional no ensino médio, entre outros. Na seção Artigos, encontram-se textos que discorrem sobre temáticas diversificadas, dentre elas: a pandemia da covid-19 e a educação infantil e os usos das tecnologias digitais e o desenvolvimento das habilidades socioemocionais nesse contexto; práticas educativas e entretenimento no ensino superior; educação, clandestinidade e cultura política; ginástica na educação física escolar; escuta sensível no estágio supervisionado em educação infantil; o docente e a criança da primeira infância; a criança benjaminiana produtora de conhecimentos educacionais; os desafios do estágio supervisionado na educação infantil; as narrações orais de histórias de crianças da educação infantil. Eu, Ligia de Carvalho Abões Vercelli me despeço da editoria da Revista Dialogia neste momento. Foi um prazer estar à frente deste periódico nos últimos dois anos. Agradeço a parceria da professora Adriana Aparecida de Lima Terçariol nesta jornada e de todos os autores que confiaram no trabalho de toda a equipe que atua na Dialogia. Passo o bastão para a professora Patrícia Aparecida Bioto que, junto com a Adriana, assumirá a editoria em meu lugar. Obrigada. Desejamos uma excelente leitura!

La regulación de las inteligencias artificiales (IA) devino un tema clave para las agendas tanto de los estados nación como de los organismos internacionales. En los países de América Latina y, particularmente, en Argentina, estos temas no han pasado desapercibidos y es posible encontrar numerosas iniciativas que se orientan a planificar y regular diferentes aspectos de las IA. Incluso, es posible advertir que estos intentos de regulaciones legales han aumentado luego de atravesar la pandemia. Al respecto, ¿qué políticas públicas sobre IA se han implementado en Argentina? ¿Cuántos proyectos de ley se están tratando en el Congreso de la Nación? ¿Tiene Argentina una estrategia nacional sobre cómo regular las IA? El artículo tiene por objeto relevar y analizar los diferentes antecedentes de regulación de las IA en Argentina desde 2018 hasta finales de 2023, incluyendo tanto las políticas públicas del Poder Ejecutivo como los proyectos de ley presentados en el Congreso de la Nación. El artículo forma parte de una investigación de mayor alcance que analiza las relaciones de co-construcción entre las IA y sus regulaciones, y busca fortalecer la soberanía tecnológica y las políticas públicas en Argentina.

Tiamulin is an antibiotic approved exclusively in veterinary medicine, active against G-positive bacteria as well as Mycoplasma spp. and Leptospirae spp. The study was aimed to establish its pharmacokinetics and to evaluate drug effects on resistance in cloacal flora in vivo in geese. Eight healthy geese underwent to a two-phase longitudinal study (60 mg/kg single oral administration vs 60 mg/kg/day for 4 days) with a two-week wash-out period. Blood samples and cloacal swabs were collected at pre-assigned times. Minimal inhibitory concentration (MIC) has been evaluated for each isolated bacterial species. The pharmacokinetic parameters that significantly differed between the groups were Cmax (p = 0.024), AUC0-t (p = 0.031), AUC0-inf (p = 0.038), t1/2kel (p = 0.021), Cl/F (p = 0.036), and Vd/F (p = 0.012). Tiamulin exhibited a slow to moderate terminal half-life (3.13 h single; 2.62 h multiple) and a rapid absorption (1 h single; 0.5 h multiple) in geese, with an accumulation ratio of 1.8 after multiple doses. An in-silico simulation of multiple dosing did not reflect the results of the in vivo multiple dosage study. In both treatments, the MIC values were very high demonstrating a resistance (> 64 μg/ml) against tiamulin that can be present prior the drug administration for some strains, or emerge shortly after the commencing of treatment for some others.

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture. Genes encoding proteins involved in glycogen synthesis and catabolism may represent excellent candidates as phenotypic modifiers of PD. The genes analyzed for glycogen synthesis included UGP2, glycogenin (GYG1-muscle, GYG2, and other tissues), glycogen synthase (GYS1-muscle and GYS2-liver), GBE1, EPM2A, NHLRC1, GSK3A, and GSK3B. The only enzyme involved in glycogen catabolism in lysosomes is α-glucosidase, which is encoded by GAA, while two cytoplasmic enzymes, phosphorylase (PYGB-brain, PGL-liver, and PYGM-muscle) and glycogen debranching (AGL) are needed to obtain glucose 1-phosphate or free glucose. Here, we report the potentially relevant variants in genes related to glycogen synthesis and catabolism, identified by whole exome sequencing in a group of 30 patients with late-onset Pompe disease (LOPD). In our exploratory analysis, we observed a reduced number of variants in the genes expressed in muscles versus the genes expressed in other tissues, but we did not find a single variant that strongly affected the phenotype. From our work, it also appears that the current clinical scores used in LOPD do not describe muscle impairment with enough qualitative/quantitative details to correlate it with genes that, even with a slightly reduced function due to genetic variants, impact the phenotype.