The growing use of generative artificial intelligence (AI) has coincided with more timely manuscript submissions and improved efficiency in scientific writing. While AI tools help authors produce clear and well-structured work, excessive or undisclosed reliance raises concerns about originality, authenticity, and the integrity of scholarly publications. Editors increasingly recognize AI-assisted writing and face the challenge of preserving rigorous standards. Emerging guidelines emphasize transparency in AI use, alongside the need to retain individual voice and diversity in scientific expression. This editorial highlights the balance between leveraging AI’s benefits and safeguarding ethical publication practices, while acknowledging contributors to the current issue.

BACKGROUND

 Neuromuscular and movement disorders comprise a heterogeneous group of acquired and inherited conditions affecting the motor unit and central movement pathways. Genetic data from underserved populations, including Filipinos, remain limited, highlighting the need for population-specific characterization.

To characterize inherited neuromuscular and movement disorders among Filipinos and determine the diagnostic yield and genetic spectrum using next-generation sequencing (NGS).

This referral single-center retrospective study reviewed Filipino patients who underwent genetic testing for suspected inherited neuromuscular and movement disorders. Variants were classified according to the American College of Medical Genetics and Genomics (ACMG) criteria.

Among 85 patients, 24 (28.2%) had pathogenic/likely pathogenic variants, 33 (38.8%) had variants of uncertain significance (VUS) and 28 (32.9%) were negative. Confirmed diagnoses included pediatric cases of limb-girdle muscular dystrophy, Duchenne muscular dystrophy, spinal muscular atrophy and GNE-related myopathy, and adult cases with myofibrillar myopathy, spinocerebellar ataxia and amyotrophic lateral sclerosis. Pathogenic variants involved 26 genes, most commonly SMN1.

This NGS-based characterization of inherited neuromuscular and movement disorders in Filipinos showed 28% diagnostic yield and a spectrum comparable to other Asian cohorts. The high rate of VUS underscores the need for family segregation studies and careful genotype–phenotype correlation. This study highlights the critical role of genetic testing in accurate diagnosis and targeted management to improve outcomes for patients with these rare disorders.

Hemichorea, a hyperkinetic disorder characterized by involuntary, rapid, irregular movements on one side of the body, typically originates from cortical basal ganglia involvement, particularly the striatum. We present a 63-year-old Filipino female with poor glycemic control and known idiopathic myelofibrosis exhibiting chorea-ballism movements in the right distal and proximal extremities. Significant improvement in involuntary movements was observed upon optimal glycemic control and benzodiazepine therapy. This report underscores the noteworthy presentation of uncontrolled hyperglycemia in type 2 diabetes, while highlighting the potential contribution of myelofibrosis.

BACKGROUND

Curcumin has been investigated as a potential natural solution to prevent or even treat skeletal muscle decline. There are a number of externally sourced finished products (ie, those imported from other countries) containing curcumin, but high cost limits their usage. The emerging research and development of locally sourced curcumin is an opportunity to produce high-quality oral supplements comparable to existing imported products.

The primary purpose of this study is to determine the effects of oral administration of a local curcumin formulation on skeletal muscle using an animal model that similarly demonstrated the course of human sarcopenia.

Purpose-bred 11- to 12-week-old female Sprague Dawley (SD) rats will be used in this study. SD rats are extensively used in animal models of human diseases and conditions such as diabetes, obesity and sarcopenia. Female rats have been selected because they do not demonstrate more temperature or activity variance and have more stable behavior compared to males. To simulate sarcopenia in this animal model, the tail suspension (TS) method was utilized. The TS method involves decreased hind limb function by suspending the animal’s tail for the duration of treatment. The laboratory animals will be randomized to receive any of the four treatments: (1) low-dose curcumin + vehicle; (2) high-dose curcumin + vehicle; (3) vehicle only; and (4) control (distilled water). The interventions will be subdivided into two: 2-week treatment and 4-week treatment. The gastrocnemius muscles on both sides will be excised and weighed, and the muscle tissues subjected to rapid freezing in acetone-dry ice and sliced into 10 μm-thick sections for staining. Examination of muscle architecture and computation of atrophy factors will be performed. The presence of connective tissue, fat tissue and number of atrophic muscle cells will be determined. Accurate quantitative detection of the rat total AMP (adenosine monophosphate)-Activated Protein Kinase will be performed in the gastrocnemius muscle tissue utilizing the enzyme-linked immunosorbent assay kit.

Human ; Time ; Aging ; Healthy Aging

Education, Medical ; Education ; Research

INTRODUCTION

Virtual learning is the new normal brought about by the pandemic in the field of education. Consequently, students are compelled to have increased exposure to electronic screens. With digital eye strain caused by increased exposure to gadgets, this study will look for a correlation between exposure to electronic screens and the severity and frequency of headaches and migraines among students studying online.

This study aims to gain an understanding of the average exposure of students to electronic screens and if there is a high frequency of migraine due to this increased exposure so that school administrators are aware of this; and in turn, to serve as a stepping stone for future studies in the same field of research.

This study will make use of an observational comparative design also known as a cross-sectional descriptive study in order to look into the proportion of students affected by such a phenomenon at one point in time. The chosen study population will consist of medicine students currently enrolled in the University of Santo Tomas, Faculty of Medicine and Surgery. The study will make use of questionnaires in order to gather data from the sample population.

Our research study indicates a significant direct correlation as evidenced by both the Pearson correlation coefficient of 0.386 and the p-value of 0.050 between electronic screen exposure and migraine frequency/severity among UST medicine students engaged in online distance learning.

While this correlation underscores the potential health impact of prolonged screen time, the moderately low association suggests a need for cautious interpretation. Other factors explored, such as gender and year level, exhibited positive correlations of 0.283 and 2.955, respectively, but did not reach statistical significance, possibly due to the small sample size limiting the depth of analysis.

Our study highlights a significant correlation between screen time exposure and migraine severity, suggesting the need for schools adopting online or hybrid setups to consider screen hours in their policies. Given the emergence of online learning environments, these factors require careful consideration. While exploring additional factors like gender and year level, limited sample size hindered conclusive findings. Future research should focus on increasing sample size and investigating variables such as screen time quality, exposure environment and participant demographics to better understand the primary causes predisposing individuals to migraine without aura.

There are rapid advancements in AI-driven diagnostics and wearable technologies, which are enabling early disease prediction, especially in conditions like Parkinson's disease. Precision medicine, underpinned by molecular biology and genomic data, allows clinicians to tailor treatment based on patient phenotypes, significantly enhancing personalized healthcare. AI complements this by processing vast datasets, from health records to biomarker evaluations, supporting more precise diagnostics and treatment recommendations.

Spinal muscular atrophy (SMA) is the most common inherited lethal disease in children. Confirmatory diagnosis is based on molecular genetic testing of survival motor neuron (SMN) genes. We aimed to describe the phenotypic presentation of Filipino infants and children with SMA based on the copy number analysis of SMN genes. Medical records of 17 Filipino children were reviewed from January 2017 to December 2019. De-identified clinical data fulfilled the diagnostic criteria defined by the International SMA Consortium. Among Filipino children, the predominant SMA type by copy number was type I having two copies of SMN2 gene. The clinical severity based on symptom onset and highest functional motor capacity attained correlated with SMN2 copy number congruent with existing data. A significant time lag between symptom onset to confirmation of genetic diagnosis was noted. Nine out of the 17 (52%) children did not have a family history of the disease, raising the possibility of mutation carriers in these families since the incidence of de novo mutations in literature is about 2%. These data offered the first epidemiological pattern of genetically confirmed SMA among Filipino children; provided additional information for genetic counselling; and an avenue to consider pre-symptomatic newborn screening and carrier testing that would change proactive measures and opportunities for therapy. These measures unavoidably will decrease the incidence and prevalence of disease in the future.
Muscular Atrophy, Spinal

Rationale: Duchenne muscular dystrophy (DMD) is a disease that primarily manifests in the early stages of life and progressively affects muscle strength resulting in quadriparesis and ultimately resulting in premature death secondary to cardiac or respiratory failure. DMD is the most common x-linked genetic disorder in children that is because of an alteration of a protein called “dystrophin” which is responsible for strengthening muscle fibers and protecting them from injury as muscles contract and relax. Objective: To highlight the case of a 19-year-old male who was diagnosed with DMD at 8 years of age and treated with oral corticosteroid and rehabilitation. Case: We present the case of a 19-year-old male who developed difficulty climbing stairs and was diagnosed with DMD at 8 years old with the use of clinical exome sequencing. Corticosteroid therapy was initiated and rehabilitation perpetuated which dramatically improved his life expectancy. Discussion and Summary Clinical exome sequencing was employed on our patient to confirm the diagnosis of DMD from other neuromuscular and neurodegenerative diseases. Most cases of DMD succumb to cardiopulmonary arrest before reaching adulthood; however, this case exemplifies DMD from other cases since our patient was able to prolong his life with continuation of oral corticosteroid and rehabilitation and in the absence of extensive life support.
Dystrophin ; Mortality, Premature