Background: Cisplatin-based chemotherapy is a mainstay treatment for head and neck squamous cell carcinoma (HNSC); however, resistance to cisplatin contributes substantially to poor clinical outcomes. Identifying biomarkers associated with cisplatin response may improve prognostic assessment and treatment selection. Methods: We retrospectively analyzed The Cancer Genome Atlas (TCGA)-HNSC dataset to evaluate the association between microtubule associated scaffold protein 1 (MTUS1) expression and clinical outcomes, with particular emphasis on patients who were cisplatin-treated. Survival analysis was performed using the Kaplan-Meier curves, and differential expression analysis was conducted separately by comparing patients in disease-specific survival (DSS)-living and DSS-deceased groups. MTUS1 messenger RNA and protein levels were examined in cisplatin-sensitive oral cancer cell lines and their paired cisplatin-resistant counterparts using quantitative reverse transcription polymerase chain reaction and western blotting. Functional relevance was assessed by small interfering RNA-mediated MTUS1 knockdown in primary oral squamous cell carcinoma organoids. Results: MTUS1 protein expression was significantly lower in HNSC tumors than in non-tumor tissues. In the overall TCGA-HNSC cohort, MTUS1 expression was not significantly associated with survival. However, in patients who were cisplatin-treated, higher MTUS1 expression was significantly associated with more favorable DSS. MTUS1 expression was consistently lower in cisplatin-resistant oral cancer cell lines than in their paired cisplatin-sensitive counterparts. Functional experiments further suggested that reduced MTUS1 expression is associated with decreased cisplatin sensitivity and a resistant phenotype. Conclusion MTUS1 expression may be associated with clinical outcomes in patients with cisplatin-treated HNSC and is related to cisplatin responsiveness. These findings suggest a role for MTUS1 as a candidate treatment-relevant biomarker and highlight the value of integrating public omics data with experimental validation.

The emergence of Chat Generative Pre-trained Transformer (ChatGPT), a chatbot developed by OpenAI, has garnered interest in the application of generative artificial intelligence (AI) models in the medical field. This review summarizes different generative AI models and their potential applications in the field of medicine and explores the evolving landscape of Generative Adversarial Networks and diffusion models since the introduction of generative AI models. These models have made valuable contributions to the field of radiology. Furthermore, this review also explores the significance of synthetic data in addressing privacy concerns and augmenting data diversity and quality within the medical domain, in addition to emphasizing the role of inversion in the investigation of generative models and outlining an approach to replicate this process. We provide an overview of Large Language Models, such as GPTs and bidirectional encoder representations (BERTs), that focus on prominent representatives and discuss recent initiatives involving language-vision models in radiology, including innovative large language and vision assistant for biomedicine (LLaVa-Med), to illustrate their practical application.This comprehensive review offers insights into the wide-ranging applications of generative AI models in clinical research and emphasizes their transformative potential.

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

Background: Alopecia areata (AA) is characterized by an autoimmune inflammatory response to hair follicles. Several studies have suggested that infection and vaccination can trigger an autoimmune process around hair follicles. Moreover, reports of AA and various other autoimmune diseases have increased since the coronavirus disease 2019 (COVID-19) pandemic became established. Objective: We assessed the clinical characteristics and treatment response in patients who developed AA following COVID-19 infection or vaccination. Methods: This retrospective study involved patients who had developed COVID-19 or received a COVID-19 vaccination within 3 months before the onset or aggravation of AA from January 2020 to December 2022. Results: Fifty patients met the inclusion criteria. Eighteen patients had a history of COVID-19 infection, and 32 had a history of COVID-19 vaccination. The mean onset of AA after COVID-19 infection and vaccination was 5.22±3.35 and 4.13±2.73 weeks, respectively. The most common COVID-19-associated symptoms before AA were fever (88.9%) in the infection group and myalgia (50.0%) in the vaccination group. In the vaccination group, AA most commonly occurred after receiving the Pfizer-BioNTech vaccine (BNT162b2, 46.9%) or Moderna vaccine (mRNA-1273, 34.4%). The vaccination group showed more rapid improvement than the infection group;however, both showed significant improvement after 6 months of treatment of AA. Conclusion We examined the clinical characteristics and treatment responses of patients who developed AA after COVID-19 infection or vaccination. Further research is needed to evaluate the detailed pathogenesis and association between COVID-19 and AA.

Idiopathic polymyositis and masticatory myositis are autoimmune inflammatory myopathies seen in dogs. Here we report a case involving an 11-year-old spayed female mixed-breed dog with suspected masticatory myositis that was later confirmed to be idiopathic polymyositis. The dog presented with lethargy and reluctance to walk. Blood examination indicated markedly elevated creatine kinase and C-reactive protein levels. The owners were reluctant to proceed with advanced tests; however, the dog developed new clinical signs, including trismus. T2-weighted magnetic resonance imaging revealed hyperintensities in multiple muscle groups, with the most pronounced changes occurring in the masticatory muscles. During the waiting period for the results of serology for circulating autoantibodies against type 2M myofibers, oclacitinib was administered and slightly restored vitality and appetite. The antibody test result was negative, and histopathological examination of the temporalis muscle revealed severe inflammatory myopathy with fibroplasia. Although masticatory myositis was initially suspected on the basis of the MRI findings and the presence of trismus, the final diagnosis based on the overall clinical course and diagnostic test results was idiopathic polymyositis. Immunosuppressive treatment with prednisolone and mycophenolate mofetil substantially improved the clinical condition. The findings from this case suggest that, even in cases of idiopathic polymyositis exhibiting only nonspecific clinical signs, accurate diagnosis and timely treatment are essential to achieve satisfactory clinical outcomes.