Yonago acta medica最新文献

{"title":"Development of an AI-Assisted Embryo Selection System Using Iberian Ribbed Newts for Embryo-Fetal Development Toxicity Testing.","authors":"Naofumi Saiki, Akiko Adachi, Hiroshi Ohnishi, Atsuro Koga, Masaru Ueki, Kiyotaka Kohno, Toshinori Hayashi, Tetsuya Ohbayashi","doi":"10.33160/yam.2024.08.011","DOIUrl":"10.33160/yam.2024.08.011","url":null,"abstract":"<p><strong>Background: </strong>The 3Rs (Reduction, Refinement, Replacement) principle is driving the need for alternative methods in animal testing. Despite advancements in in vitro testing, complex systemic toxicity tests still necessitate in vivo approaches. The aim of this study was to develop a developmental toxicity test protocol using the Iberian ribbed newt (<i>Pleurodeles waltl</i>) as a model organism, integrating AI image analysis for embryo selection to improve test accuracy and reproducibility.</p><p><strong>Methods: </strong>We established a developmental toxicity test protocol based on the zebrafish test. Gonadotropin was administered to induce ovulation, and in vitro fertilization was performed. Embryos were imaged at 5-6 and 6-7 h post-fertilization. AI image analysis was utilized to assess embryo viability. The test chemical was administered 24-48 h post-fertilization, and morphological changes were observed daily until day 8. Additionally, a time-lapse photography system was constructed to monitor embryonic development.</p><p><strong>Results: </strong>Out of 24 cultured embryos, 75% developed normally to the late tail bud stage or initial hatching stage, whereas 25% experienced developmental arrest or death. AI image analysis achieved high accuracy in classifying embryos, with overall accuracies of 92.0% and 92.9% for two learning models. The AI system demonstrated higher precision in the selection of viable embryos compared to visual inspection.</p><p><strong>Conclusion: </strong>The Iberian ribbed newt presents a viable alternative model for developmental toxicity testing, adhering to the 3Rs principles. The integration of AI image analysis substantially enhances the accuracy and reproducibility of embryo selection, providing a reliable method for evaluating developmental toxicity in pharmaceuticals.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"233-241"},"PeriodicalIF":0.9,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring Gaps in Child Maltreatment Trends: A Narrative Review from the U.S. and Japan.","authors":"Tamaki Hosoda-Urban","doi":"10.33160/yam.2024.08.014","DOIUrl":"10.33160/yam.2024.08.014","url":null,"abstract":"<p><p>Child maltreatment affects millions globally across all economic levels. Despite its prevalence, comparative research and internationally comparable data are limited due to varied definitions, methodologies, and reporting systems. This narrative review aims to compare child maltreatment trends in the U.S. and Japan, highlighting the roles of sociocultural factors. Through a literature review and analysis of national data since 1990, the study estimates maltreatment and fatality rates in both countries. Findings suggest an increase in Japan's reported maltreatment cases, likely attributable to legislative changes and heightened public awareness, while the U.S. appears to show a decline, potentially linked to improved mental health services and socioeconomic advancements. In both nations, mothers are predominantly identified as perpetrators, with sociocultural factors influencing maltreatment types and rates. Japan faces challenges in accurately measuring maltreatment due to reporting inconsistencies and mental health stigma. Despite a higher victimization rate, Japan reports significantly fewer fatalities than the U.S., with the fatality rate in the U.S. being approximately 9 times higher than in Japan. This contrast underscores the critical role of healthcare access and mental health support. The review advocates for international efforts to standardize maltreatment definitions and reporting, suggesting the adoption of trauma-informed care and comprehensive healthcare access as effective strategies.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"176-182"},"PeriodicalIF":0.9,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Importance of qSOFA Score in Terms of Prognosis and Mortality in Critical Care Patients.","authors":"Yahya Kemal Günaydın, Dilber Üçöz Kocaşaban, Sertaç Güler, Erdal Demirtaş, Yeşim Çövüt, Mitat Can Öztürk, Jiyan Deniz İlgün, Nazire Belgin Akıllı","doi":"10.33160/yam.2024.08.009","DOIUrl":"10.33160/yam.2024.08.009","url":null,"abstract":"<p><strong>Background: </strong>Recent studies have analyzed the qSOFA (quick sequential organ failure assessment) score as a prognostic indicator in many diseases, particularly sepsis. However, the effect of qSOFA score on prognosis and mortality in critical care patients has not been sufficiently analyzed. There is not enough data, especially regarding its use as critical care mortality and prognosis scoring. In this study, we aimed to analyze the effect of qSOFA score on mortality and prognosis in critical care unit (CCU) patients.</p><p><strong>Methods: </strong>This study was conducted retrospectively using the chart review method. The APACHE II (Acute Physiology and Chronic Health Evaluation II) and SOFA (Sequential Organ Failure Assessment) scores of patients admitted to our CCU were compared with the qSOFA score. In addition, the need for intubation and mechanical ventilation, short- and long term mortality rates, the relationship between blood gas lactate values and qSOFA score were analyzed.</p><p><strong>Results: </strong>A total of 1816 patients were included in the study. During critical care follow-up, 374 (20.6%) of our patients died, and at the end of 6 months, 796 (43.8%) of our patients died. A statistically significant association was found between in-hospital mortality and qSOFA, SOFA scores and lactate levels (<i>P</i> = 0.001, <i>P</i> = 0.001, <i>P</i> = 0.01 respectively). A statistically significant association was found between 6-month mortality and SOFA score only. (<i>P</i> = 0.001) The SOFA score appeared to be the most successful predictor of mortality. The cut-off for mortality using the ROC curve was ≥ 7 [sensitivity 78.1%; specificity 85.9%; AUC 0.91; 95% confidence interval (CI), 0.89 to 0.92; <i>P</i> = 0.001]. qSOFA scoring also performed well. The cut-off value for mortality using the ROC curve was ≥ 2 (sensitivity 42.5%; specificity 93.9%; AUC 0.83;95% CI, 0.80-0.85; <i>P</i> = 0.001).</p><p><strong>Conclusion: </strong>We believe that the qSOFA score can be used as a marker for in-hospital mortality and prognosis in critical care patients. Especially in cases where the qSOFA score is ≥ 2, it provides valuable information regarding mortality and prognosis.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"225-232"},"PeriodicalIF":0.9,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of Online Parent Training for Vietnamese Parents of Children with Autism Spectrum Disorders.","authors":"Masahiko Inoue, Honami Yamaguchi, Keita Nakatani, Ayano Nishimoto, Kei Namiki, Satori Kuroda, Thi Viet Ha Tran, Nguyen Trang Thu Dinh","doi":"10.33160/yam.2024.08.008","DOIUrl":"10.33160/yam.2024.08.008","url":null,"abstract":"<p><strong>Background: </strong>Parent training (PT) programs have been implemented for neurodevelopmental disorders such as autism spectrum disorder (ASD) in recent years. However, in Southeast Asia, the diffusion of rehabilitation programs for children with ASD and that of PT as a parental support measure has been slow.</p><p><strong>Methods: </strong>This study assessed the effectiveness of an online PT program that was developed in Japan and remotely delivered to Vietnamese parents of children with ASD residing in Vietnam. Sixteen parents of Vietnamese children with ASD participated in seven online Tottori University-style PT sessions. The online PT was conducted in real-time from Japan, considering the two-hour time difference between countries. Lectures and exercises were presented in Vietnamese with PowerPoint materials. Japanese staff provided explanations in Japanese, which were then simultaneously translated by a Vietnamese interpreter. Attendance, completion of homework assignments, and the number of statements on Zoom and social media were tallied. A pre-post-test design was employed to measure changes in parents' mental health factors and children's behavior. A post-intervention questionnaire was administered to assess participant's acceptance of PT.</p><p><strong>Results: </strong>The findings showed that attendance and task completion rates were considerably high. The study found that the mental health scores of parents significantly improved after participating in online parenting training compared to before. However, there were no statistically significant improvements found in children's behavior. The study also confirmed high satisfaction with the cross-country online parenting training.</p><p><strong>Conclusion: </strong>This study confirmed that TUPT, developed in Japan and implemented as an online PT for parents of children with ASD living in Vietnam, was effective in improving parental mental health. The program acceptability questionnaire also showed positive results. This study is the first step in the evaluation and dissemination of Internet-based, cross-country parent training for parental support in Asia.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"213-224"},"PeriodicalIF":0.9,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of High-Dose Intravenous MgSO₄ and Hemoperfusion for Aconite Poisoning with Chronic Kidney Disease.","authors":"Yoshiaki Oshima, Akira Tanaka, Masaharu Fukuki, Akihiro Otsuki, Ichiro Hisatome","doi":"10.33160/yam.2024.08.012","DOIUrl":"10.33160/yam.2024.08.012","url":null,"abstract":"<p><p>Aconite contains four highly toxic diester-diterpene alkaloids, including aconitine, mesaconitine, hypaconitine, and jesaconitine, in all plant parts. Aconite has been used as for suicide, murder, and as an arrow poison since ancient Greek and Roman times. Ventricular tachyarrhythmias are the most common cause of death in aconite poisoning, and antiarrhythmic drugs and cardioversion are ineffective. A 61-year-old woman ingested the crushed raw roots of a single aconite plant. An ambulance brought her to the Tottori University Hospital 30 min after ingestion. She had a history of chronic stage 5 kidney disease but was not on dialysis. Her heart rate (HR) was 120 bpm upon arrival. The patient developed sustained supraventricular tachycardia (SVT) at an HR of 165 bpm with frequent premature ventricular contractions (PVCs) 15 min after arrival. She then developed sustained monomorphic ventricular tachycardia (VT) at an HR of 200 bpm 20 min after arrival, which progressed to pulseless polymorphic VT. Cardioversion was unsuccessful. External cardiac massage restored spontaneous circulation; however, her underlying rhythm remained sustained SVT with frequent PVCs. These arrhythmias repeatedly led to circulatory arrest. She was administered six intravenous boluses of 2 g of MgSO₄ in the emergency department, which prevented her from going into sustained pulseless VT. Hemoperfusion (HP) with activated charcoal was performed 1.5 h after arrival. The aconitine, mesaconitine, and hypaconitine plasma concentrations were high at 8.9, 23.5, and 5.5 ng/mL, respectively, before the start of HP but decreased to 1.7, 4.0, and 2.7 ng/mL, respectively, after 7 h of HP. She returned to sinus rhythm on the second day of hospitalization; however, the patient required maintenance hemodialysis. We concluded that high-dose IV MgSO₄ is an effective treatment for fatal tachyarrhythmias due to aconite poisoning, and that in cases of renal failure, HP may be required to remove aconite toxins from the body.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"270-279"},"PeriodicalIF":0.9,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Excellent Response to 177Lu-DOTATATE Peptide Receptor Radionuclide Therapy in a Patient with Treatment-Related Neuroendocrine Prostate Cancer with Urinary Retention and Rectal Obstruction: A Case Report.","authors":"Ryusei Yasukawa, Bunya Kawamoto, Kuniyasu Muraoka, Kazuhiko Nakamura, Masashi Honda, Atsushi Takenaka","doi":"10.33160/yam.2024.08.010","DOIUrl":"10.33160/yam.2024.08.010","url":null,"abstract":"<p><p>Treatment-related neuroendocrine prostate cancer (tNEPC) occurs after androgen deprivation therapy and has a poor prognosis; however, there are few effective treatments for tNEPC. Therefore, tNEPC management is often challenging. This is a case of a 65-year-old Asian male patient with prostate adenocarcinoma who had metastases at initial presentation. After prostate biopsy revealed neuroendocrine prostate cancer (NEPC), he was treated with platinum-based systemic chemotherapy followed by pembrolizumab treatment. The primary tumor regions temporarily regressed, but progression of the primary tumor resulted in urinary retention and rectal obstruction; therefore, a transverse colostomy was performed, and a urethral catheter was inserted. Following somatostatin receptor scintigraphy (SRS), it was determined that the primary tumor expressed somatostatin receptors. Based on these results, treatment with 177Lu-DODATATE peptide receptor radionuclide therapy was prescribed. Subsequently, the primary tumor regressed remarkably, and the urethral catheter was removed. 177Lu-DOTATATE peptide receptor radionuclide therapy may be an effective option for tNEPC, which has few effective treatment options.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"266-269"},"PeriodicalIF":0.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spontaneous Mediastinal Gastric Perforation in Hiatal Hernia with Difficult Surgical Technique Selection: A Case Report.","authors":"Tomohiro Takahashi, Tomoyuki Matsunaga, Shota Shimizu, Yuji Shishido, Kozo Miyatani, Naruo Tokuyasu, Teruhisa Sakamoto, Yoshiyuki Fujiwara","doi":"10.33160/yam.2024.08.007","DOIUrl":"10.33160/yam.2024.08.007","url":null,"abstract":"<p><p>Emergency surgery for a hiatal hernia (HH) is uncommon. However, mediastinal gastric perforation may occasionally present as the initial symptom of HH and demonstrate high mortality rates. Managing mediastinal gastric perforation in HH has no established standard surgical technique, and the selection of surgical techniques may be challenging. A 78-year-old female patient was referred to our department because of an upper gastrointestinal perforation in HH based on computed tomography (CT) results. Determining the possibility of esophageal perforation and intrathoracic penetration was difficult according to CT results alone, and whether a transthoracic or transabdominal approach was preferable. We diagnosed the patient with a mediastinal gastric perforation in HH without intrathoracic penetration based on an additional gastrointestinal contrast study and a right thoracentesis. We treated the patient with laparotomy, involving the perforation site and esophageal hiatus closure and gastropexy. Postoperatively, the patient experienced complications associated with delayed gastric emptying and aspiration pneumonia. Fortunately, no severe infections, such as residual abscess formation or empyema, were observed, and the recovery progressed favorably. Mediastinal gastric perforation should be considered a differential diagnosis for elderly patients with sudden-onset chest pain and dyspnea, and the threshold for imaging should be lowered. Identifying the perforation site and the presence of intrathoracic penetration based on preoperative results is useful for determining the appropriate surgical technique. Postoperative quality of life to the extent feasible needs to be considered, as the selection of surgical technique may cause subsequent recurrence or reflux symptoms.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"259-265"},"PeriodicalIF":0.9,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exposure-Based Online Intervention and Behavioral Parent Training for a Child with Selective Mutism: A Case Report.","authors":"Tomohisa Yamanaka, Ryuki Kadekaru, Masahiko Inoue","doi":"10.33160/yam.2024.08.004","DOIUrl":"10.33160/yam.2024.08.004","url":null,"abstract":"<p><p>Although exposure-based practices are effective in treating selective mutism, difficulties arise when the child refuses to visit a clinical center. In this situation, it is important to intervene using remote technology and to support parents who have children with selective mutism. In this patient report, an exposure-based intervention using online technology was implemented for an 8-year-old girl with selective mutism. In addition, her mother was also experiencing increased parenting stress. Therefore, the mother received behavioral parent training specifically designed for parents of children with selective mutism. As a result, the child's nervousness decreased during the intervention, and the frequency of their speech, facial expression, and body motion improved. Initially, the child refused to visit our clinical center. However, they eventually agreed and managed to communicate non-verbally with the primary author in our clinical center. Behavioral parent training for selective mutism improved her mother's understanding of the condition, the way she interacts with her child, and reduced her parenting stress. Implementing Internet-based interventions is highly beneficial because it significantly reduces the fear of clinic or hospital visits among children with selective mutism. Furthermore, behavioral parent training tailored to selective mutism to improve parental stress and interaction can be a valuable support option for parents of children with selective mutism.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"246-253"},"PeriodicalIF":0.9,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Image Follow-Up After Flow Diverter Treatment Using Only Ultra-High Resolution CT Angiography with Model-Based Iterative Reconstruction: A Case Report.","authors":"Naoki Iwata, Makoto Sakamoto, Toshio Sakou, Tetsuji Uno, Masamichi Kurosaki","doi":"10.33160/yam.2024.08.006","DOIUrl":"10.33160/yam.2024.08.006","url":null,"abstract":"<p><p>Follow-up examinations using magnetic resonance imaging or digital subtraction angiography are mandatory after flow diverter treatment of cerebral aneurysms. However, flow diverter features metal artifacts on magnetic resonance imaging and ischemic complications with digital subtraction angiography. Ultra-high-resolution computed tomography systems have recently become available in clinical practice. The combined use of ultra-high-resolution computed tomography and a reconstruction technique called model-based iterative reconstruction is expected to replace follow-up magnetic resonance imaging and digital subtraction angiography of flow diverter placement. Here, we report a case of ultra-high-resolution computed tomography with model-based iterative reconstruction after flow diverter treatment.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"254-258"},"PeriodicalIF":0.9,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microduplication of <i>SCN2A</i> Gene in a Child with Drug-Resistant Epilepsy and Developmental/Epileptic Encephalopathy with Spike Wave Activation During Sleep.","authors":"Shun Akaboshi, Tohru Okanishi, Masaki Iwasaki, Takashi Saito, Yoshihiro Maegaki","doi":"10.33160/yam.2024.08.003","DOIUrl":"10.33160/yam.2024.08.003","url":null,"abstract":"<p><p>Duplications in chromosomal locus 2q24.3 region that solely involve <i>SCN2A</i> remain less explored. Favorable outcomes have been reported in patients with <i>SCN2A</i> gene duplications in cases of mild epilepsy with onset during the neonatal to infantile period, or in infantile epileptic spasm syndrome. Herein, we report a case of microduplications, including <i>SCN2A</i> gene duplications, wherein developmental/epileptic encephalopathy with spike-wave activation during sleep (D/EE-SWAS) developed. A 3-day-old girl without birth complications exhibited tonic seizures in her right limb with eye deviation to the right. She developed drug-resistant seizures, including atypical absence seizures, at 1 year and 6 months old. Despite achieving seizure freedom at 9 years old, she experienced academic difficulties. D/EE-SWAS was diagnosed based on the long-term electroencephalogram findings. Following a corpus callosotomy at 11 years old, her academic performance and emotional expression improved. Comprehensive genetic analysis at 10 years old revealed a microduplication spanning approximately 300 kb within the 2q24.3 region, which included a segment of the <i>SCN2A</i> gene and an adjacent <i>CSRNP3</i> gene. In conclusion, we reported a rare case of duplications solely encompassing <i>SCN2A</i>. Corpus callosotomy resolved the D/EE-SWAS.</p>","PeriodicalId":23795,"journal":{"name":"Yonago acta medica","volume":"67 3","pages":"242-245"},"PeriodicalIF":0.9,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}