International Journal of Medical Sciences最新文献

{"title":"Investigation of the Relationship Between University Students' Nomophobia and Psychological Distress: A Cross-sectional Study.","authors":"Rakesh Kumar, Aisha Osman Yousif, Mohammed Ismail Humaida","doi":"10.7150/ijms.112738","DOIUrl":"10.7150/ijms.112738","url":null,"abstract":"<p><p><b>Background:</b> This study investigated the relationship between nomophobia, psychological distress, and demographic factors among students. <b>Methods:</b> This cross-sectional study used a convenience sampling approach to collect data from 723 respondents. The study participants were university students from the University of Ha'il. Distress factors were measured as dependent variables using the Depression Anxiety Stress Scale (DASS)-21, while nomophobia was the independent variable measured using the Nomophobia Questionnaire (NMP-Q). The relationships were assessed using Pearson's correlation, whereas the relationship power of these factors was assessed using hierarchical regression. <b>Results:</b> The study results revealed that four dimensions of nomophobia were significantly correlated with depression, anxiety, stress, and overall DASS-21 scores (p < 0.01). Additionally, nomophobia was significantly associated with distress factors (depression: β = 0.11, p-value < 0.01, anxiety: β = 0.11, p-value < 0.01, stress: β = 0.08, p-value < 0.01). Mobile usage was also significantly associated with the same distress factors (depression: β = 1.67, p-value < 0.01, anxiety: β = 1.65, p-value < 0.01, stress: β = 1.65, p-value < 0.01). Additionally, gender was associated with anxiety (β = 2.75, p-value < 0.01,). <b>Conclusion:</b> Nomophobia significantly exacerbates distress and is a leading cause of stress, anxiety, and depression. The study found that high mobile phone use significantly contributes to psychological distress, which leads to low academic performance, which-in turn-further increases distress.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3154-3161"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Research Progress of Epigenetic Modifications in Myopia.","authors":"Yinqiao Zhang, Zhaohui Yang, Miao Zhang, Yuanting Yang, Zhongyu Ma, Mengke Wu, Hongsheng Bi, Dadong Guo","doi":"10.7150/ijms.110640","DOIUrl":"10.7150/ijms.110640","url":null,"abstract":"<p><p>Myopia, also known as nearsightedness, refers to a refractive error of the eye that causes parallel rays of light to focus in front of the retina, affecting distance vision. High myopia significantly increases the risk of pathological myopia, leading to severe complications and an increased likelihood of myopia-related eye diseases. In recent decades, the incidence of myopia has continued to rise, posing significant social and human health issues. The complex interplay between genetic and environmental variables affects the development of myopia. Gene control depends to a large extent on epigenetic changes, which are reversible, inheritable, and sensitive to ecological shifts. Therefore, the pathophysiology and development of myopia are tightly linked to gene regulation mediated by epigenetic changes. To explore epigenetic modifications related to myopia, a PubMed search was conducted using keywords such as epigenetic modification, epigenetics, DNA methylation, RNA methylation, non-coding RNA, long non-coding RNA, short interfering RNA, microRNA, ribosomal RNA, circular RNA, transfer RNA, histone modification, histone methylation, and histone acetylation. This review presents the current understanding of these epigenetic modifications in myopia to provide new insights for advancing myopia research.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3084-3100"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Niclosamide-Modulated Apoptosis and Autophagy in Breast Cancer Cells via Phosphorylated JNK as a Common Regulator.","authors":"Ming-Shan Chen, Tsung-Yi Chen, Shu-Hsin Chen, Shew-Meei Sheu","doi":"10.7150/ijms.106429","DOIUrl":"10.7150/ijms.106429","url":null,"abstract":"<p><p>Autophagy plays critical pro-survival and pro-apoptotic roles in regulating breast cancer death. Niclosamide is a U.S. FDA-approved drug that is used for parasite treatment. Exposure to niclosamide causes apoptosis in several different types of cancer cells, whereas its ability to regulate autophagy remains limited, especially in breast cancer. In this study, we evaluated the relative mechanism by which niclosamide regulates apoptosis and autophagy in breast cancer cells. We found that niclosamide induced G0/G1 cell cycle arrest and apoptosis in MCF-7 and T-47D cells. It also caused the turnover of microtubule-associated protein 1 light chain 3 (LC3-II), an autophagy marker, and arrested autophagosome maturation. Niclosamide-induced apoptosis was inhibited by an autophagy initiator (3-methyladenine) but significantly enhanced by chloroquine, an autophagy blocker. Both Jun-amino-terminal kinase (JNK) and reactive oxygen species (ROS) inhibitors decreased LC3-II accumulation and niclosamide-induced apoptosis. However, the ROS inhibitor reduced the expression of niclosamide-activated p-JNK in MCF-7 cells but not in T-47D cells. In conclusion, blocking autophagy is cytotoxic and promotes niclosamide-induced apoptosis. Phosphorylated JNK is identified for the first time as a common regulator of niclosamide-induced autophagy and apoptosis, acting through ROS-dependent or ROS-independent pathways.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3120-3131"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal Relationship between Gut Microbiota and Endometrial Cancer: A Two-Sample Mendelian Randomization Study.","authors":"Xinrui Yao, Sitong Dong, Xiao Li, Ouxuan Liu, Yuexin Hu, Yuxuan Wang, Xiangcheng Fan, Bei Lin","doi":"10.7150/ijms.112922","DOIUrl":"10.7150/ijms.112922","url":null,"abstract":"<p><p>Several relevant reports have shown that changes in the composition of the gut microbiota are related to the pathogenesis of endometrial cancer (EC). However, the causal effect of the gut microbiota on EC remains unknown. A two-sample Mendelian randomization (MR) study was used to assess the causal effects of the gut microbiota on EC, EC with endometrioid histologies and EC with non-endometrioid histologies. The genetic statistics of the gut microbiota, including 18,340 participants, were acquired from the MiBioGen database. The summary statistics of EC, EC with endometrioid histologies and EC with non-endometrioid histologies were obtained from the publicly available Genome-wide Association Study (GWAS) database. Suitable single nucleotide polymorphisms (SNPs) were selected as instrumental variables (IVs) (<i>P</i> < 5×10^-8, r² < 0.001). The causal effects were evaluated via the MR-Egger regression method, the inverse-variance weighted (IVW) method, the weighted median test, the weighted mode test, and the simple mode test. The IVW analysis suggested that <i>Ruminococcusgnavusgroup</i> (OR=0.82, 95%CI=0.78-0.85, <i>P</i>=1.29×10^-17), <i>Euryarchaeota</i> (OR=0.90, 95%CI=0.87-0.94, <i>P</i>=3.78×10^-6), and <i>CandidatusSoleaferrea</i> (OR=0.92, 95%CI=0.87-0.98, <i>P</i>=0.01) had protective effects on EC and its subtypes. <i>Gammaproteobacteria</i> (OR=1.29, 95%CI=1.19-1.39, <i>P</i>=2.32×10^-10) served as a risk factor for EC, and <i>Intestinimonas</i> (OR=1.33, 95%CI=1.10-1.62, <i>P</i>=3.68×10^-3) had detrimental effects on EC with non-endometrioid histologies. The causal relationship between the gut microbiota and EC was explored through two-sample MR analysis, which is helpful for further understanding the gut microbiota-mediated development mechanism underlying EC.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3142-3153"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Genetic Variants in <i>PATL</i>2 Corresponding to Different Clinical Phenotypes of Female Infertility.","authors":"Xiaotao Yang, Xiangrui Shi, Jing Wang, Jingying Guo, Yinhu Huang, Pan Tang, Yu Zhao, Yanxi Li, Wei Liu, Qinghua Zhang","doi":"10.7150/ijms.109085","DOIUrl":"10.7150/ijms.109085","url":null,"abstract":"<p><p>PATL2, an RNA-binding protein and a translational repressor, plays a crucial role in maintaining mRNA homeostasis during female gametogenesis and early development of embryos. Rare pathogenic variants of its encoding gene have been implicated as causative factors for oocyte, zygote, and embryo maturation arrest (OZEMA), which results in female primary infertility and failed IVF or ICSI attempts. In this study, we identified multiple <i>PATL</i>2 variants carried by three patients from two unrelated families: compound heterozygous missense variants comprising novel c.1373T>C (p.I458T), and reported c.877G>T (p.D293Y); unprecedented homozygous missense variants of recurrent c.839G>A (p.R280Q). Molecular dynamics simulations revealed that variants I458T and D293Y severely damaged structural integrity of the PATL2 protein, strongly suggesting a more pronounced functional impairment than the other variant, R280Q. These computational results are in a good consistency with the corresponding clinical phenotypes and offer a plausible explanation for previously observed decrease of protein abundancy associated with the reported variants in <i>PATL</i>2. Our findings provide more insights into the significant impacts of both novel and recurrent <i>PATL</i>2 variants on female infertility and failed assisted reproduction.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3132-3141"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243965/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>IL1A</i> regulates MSU-induced apoptosis and inflammatory response through TLR4/MyD88/NF-κB signaling pathway.","authors":"Fei Pan, Yun Zhang, Min Li, Mei Liu","doi":"10.7150/ijms.112102","DOIUrl":"10.7150/ijms.112102","url":null,"abstract":"<p><p><b>Background:</b> The increased inflammation associated with interleukin-1α (<i>IL-1A</i>) induced by monosodium urate (MSU) crystal-induced gouty arthritis is mediated through the NLRP3 inflammasome and NF-κB signaling pathways. This study investigated the role of <i>IL1A</i> in MSU-mediated inflammation and its therapeutic potential. <b>Methods:</b> MSU crystals were applied to THP-1 macrophages and human vascular endothelial cells (HUVECs) with or without <i>IL1A</i> knockdown. Quantitative reverse transcription polymerase chain reaction (qRT-PCR), western blotting (WB), cell counting kit-8 (CCK-8), flow cytometry, and enzyme-linked immunosorbent assay (ELISA) were used to assess <i>IL1A</i> expression, cell viability, apoptosis, and the generation of inflammatory cytokines. The activation of the NLRP3 inflammasome and TLR4/MyD88/NF-κB pathways was evaluated, with TAK-242 used to assess synergistic effects. <b>Results:</b> MSU increased <i>IL1A</i> expression, induced apoptosis, and reduced cell viability in HUVECs, effects reversed by <i>IL1A</i> knockdown. <i>IL1A</i> knockdown media mitigated apoptosis in HUVECs exposed to conditioned media from MSU-stimulated THP-1 macrophages. <i>IL1A</i> knockdown reduced MSU-induced proinflammatory cytokines and NLRP3 activation in THP-1 cells. TAK-242 showed synergistic effects, while <i>IL1A</i> knockdown inhibited TLR4/MyD88/NF-κB activation. <b>Conclusions:</b> <i>IL1A</i> promotes cell death and inflammation in MSU-induced gout. Knockdown of <i>IL1A</i> mitigates these effects, suggesting it may be a potential therapeutic target for MSU-induced inflammation.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3070-3083"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244086/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ginsenoside Rh7 affects β-catenin nuclear translocation by inhibiting <i>SHCBP1</i> expression, thereby inhibiting epithelial-mesenchymal transition in gastric cancer cells.","authors":"Xiaohong Zhang, Yanqing Mo, Li Feng","doi":"10.7150/ijms.112622","DOIUrl":"10.7150/ijms.112622","url":null,"abstract":"<p><p><b>Background:</b> Ginsenoside Rh7 is a bioactive compound with anticancer properties. This investigation was conducted to analyze the anticancer effects of ginsenoside Rh7 and its underlying molecular mechanisms in gastric cancer (GC) cells. <b>Methods:</b> The key gene module associated with GC was identified through weighted gene co-expression network analysis (WGCNA) of the GSE118897 dataset. Differentially expressed genes (DEGs) were examined in The Cancer Genome Atlas-Stomach Adenocarcinoma (TCGA-STAD) and the GSE118897 datasets. The central genes of this study were subsequently identified by intersection analysis and protein-protein interaction (PPI) network. Transcriptome sequencing evaluated the changes in <i>SHCBP1</i> expression in GC cells treated with Rh7. Immunoprecipitation (IP) was employed to analyze the relationship between β-catenin and <i>SHCBP1</i>. Functional assays, including Transwell, cell counting kit-8 (CCK-8), colony assays, and <i>in vivo</i> tumor models, evaluated the effects of Rh7 and <i>SHCBP1</i> on GC cell behaviors. <b>Results:</b> <i>SHCBP1</i> was upregulated in tumor samples in GSE118897 and TCGA-STAD. Ginsenoside Rh7 inhibited GC cell invasion, migration, and proliferation dose-dependently by downregulating <i>SHCBP1</i> expression. Transcriptome analysis confirmed Rh7-mediated <i>SHCBP1</i> inhibition. Rh7 promoted β-catenin nuclear translocation by reducing <i>SHCBP1</i> expression. Rescue experiments demonstrated that the overexpression of <i>SHCBP1</i> partially counterbalanced the impacts of Rh7 on epithelial-mesenchymal transition (EMT) regulation and GC cell growth <i>in vitro</i> and <i>in vivo</i>. <b>Conclusion:</b> Ginsenoside Rh7 suppresses GC progression by regulating SHCBP1-mediated β-catenin nuclear translocation, thereby inhibiting EMT, proliferation, migration, and invasion. This highlights its potential as a GC therapeutic drug and deserves further study of its mechanism of action.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3053-3069"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between Magnesium Depletion Score and Advanced Cardiovascular-Kidney-Metabolic Syndrome Stages in US Adults.","authors":"Juan Tian, Xiaoyu Ding, Xiaoying Ren, Guang Wang, Wei Wang, Jia Liu","doi":"10.7150/ijms.115217","DOIUrl":"10.7150/ijms.115217","url":null,"abstract":"<p><p><b>Background:</b> Cardiovascular-kidney-metabolic (CKM) syndrome is highly prevalent. Advanced CKM stages have the potential for multiorgan disease, premature mortality, and excess morbidity. Magnesium deficiency has a prominent impact on the components of CKM syndrome. However, the relationship between magnesium depletion score (MgDS) and the risk of developing advanced stages of CKM syndrome is still unclear. <b>Methods:</b> We used data from the National Health and Nutrition Examination Survey (NHANES) from 1999 to 2018. To investigate the relationship between MgDS categories and advanced CKM stages, we employed weighted multivariable logistic regression. Stratified and interaction analysis was conducted to find whether some demographics and lifestyle factors modified the association. Restricted cubic spline (RCS) analysis was implemented to investigate the dose-response relationships. Additionally, receiver operating characteristic (ROC) curve was plotted to assess the diagnostic accuracy of MgDS for advanced CKM stages. <b>Results</b>: The study population comprised 18,038 participants aged 20 to 79 years. The multivariable logistic regression suggested that high MgDS levels (MgDS = 2 and ≥ 3) were associated with higher odds of having advanced CKM stages compared with low MgDS level (MgDS = 0) in all adjusted models (<i>P</i> < 0.05). Stratified and interaction analysis indicated that PIR had significant effects on the association (<i>P</i> for interaction < 0.05). The RCS regression analyses demonstrated a positive linear association between MgDS and the incidence of advanced CKM stages (P for overall = 0.0003, P for nonlinear = 0.1374). The MgDS predicted the area of the ROC curve of 0.7577 (<i>P</i> < 0.05) and the optimal cutoff value was 2. <b>Conclusions:</b> Magnesium-depleted state as quantified by MgDS (MgDS ≥ 2) is a significant risk factor for advanced CKM stages, which suggests that identifying magnesium deficiency and improving the nutritional status of magnesium might mitigate the risk of advanced CKM stages.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3101-3111"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Problematic Smartphone Use in Adolescents with Attention-Deficit/Hyperactivity Disorder: The Roles of Domestic Violence, Parenting Styles, and Peer Bullying Victimization.","authors":"Po-Chun Lin, Cheng-Fang Yen, Ray C Hsiao, Peng-Wei Wang","doi":"10.7150/ijms.112302","DOIUrl":"10.7150/ijms.112302","url":null,"abstract":"<p><p><b>Background:</b> Problematic smartphone use (PSU) was associated with the increased risk of mental health problems in adolescents. Studies have identified several individual factors related to PSU in adolescents with ADHD; however, environmental factors related to PSU in adolescents with ADHD have not been examined. This cross-sectional questionnaire-survey study examined the associations of domestic violence, parenting styles, and peer bullying victimization with the severity of PSU in adolescents with attention-deficit/hyperactivity disorder (ADHD). <b>Methods:</b> In total, 247 adolescents with ADHD and their parents participated in the study. The severity of PSU was assessed using the Smartphone Addiction Inventory. Domestic violence was assessed using the Parent-to-Child Violence Questionnaire and Violence among Adult Family Members Questionnaire. Parenting styles were assessed using the Parental Bonding Instrument. Peer bullying victimization was assessed using the School Bullying Experience Questionnaire. <b>Results:</b> Violence among adult family members (<i>p</i> = .049) and being a victim of social and verbal bullying (<i>p</i> = .049) significantly correlated with higher PSU. Authoritarian and controlling parenting significantly correlated with PSU in bivariable but not multivariable regression analysis (<i>p</i> > .05). <b>Conclusion:</b> Environmental factors significantly correlated with PSU in adolescents with ADHD. Health professionals should incorporate these factors into the intervention programs for PSU among adolescents with ADHD.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3112-3119"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Features of Undiagnosed Abdominal Pain and Diagnostic Status of Acute Hepatic Porphyria in Japan: A Retrospective Study.","authors":"Masaki Tago, Yosuke Sasaki, Naoko E Katsuki, Risa Hirata, Hidetoshi Aihara, Fumiya Komatsu, Kazunobu Une, Taiju Miyagami, Yudai Suzuki, Ren Kawamura, Hiroaki Takeoka, Yuka Yasuoka, Taro Shimizu, Shigeki Nabeshima, Toshio Naito, Susumu Tazuma","doi":"10.7150/ijms.107826","DOIUrl":"10.7150/ijms.107826","url":null,"abstract":"<p><p><b>Objective:</b> The prevalence of acute hepatic porphyria (AHP) in Japan is unknown. To diagnose AHP, identifying populations with a high prevalence of AHP is essential. We focused on non-specific abdominal pain (NSAP); however, the criteria for NSAP vary across studies. Therefore, this study aimed to investigate the diagnostic process of undiagnosed abdominal pain in general medicine clinical practice before proposing a definition of NSAP. In addition, we aimed to examine the potential AHP-related symptoms and implementation of AHP testing in these patients. AHP is a rare but fatal and treatable disease; hence, its early diagnosis is essential. <b>Design:</b> This retrospective observational study was conducted in the general medicine departments of six medical institutions in Japan over a 3-year period beginning on April 1, 2019. <b>Participants:</b> Patients with abdominal pain who underwent abdominal imaging examinations were included. <b>Main outcome measures:</b> The primary outcome was to characterize patients with undiagnosed abdominal pain. In addition, this study aimed to identify situations where physicians attempt to diagnose AHP in patients with abdominal pain. <b>Results:</b> Of the 1915 eligible participants, 317 (16.6%) had undiagnosed abdominal pain, and none of them were diagnosed with AHP in diagnosed abdominal pain. The median patient age was 55 years, and 134 patients were male. Multivariate logistic analysis revealed that hospitalization, dull pain, and the absence of depressive symptoms were associated with abdominal pain. All patients with undiagnosed abdominal pain demonstrated two to four indicative symptoms of AHP. However, none underwent urinalysis for a definitive diagnosis of AHP. <b>Conclusions:</b> Depressive symptoms and the absence of dull pain were associated with undiagnosed abdominal pain. Hospitalization for examination contributed to improving the diagnosis of abdominal pain. Despite the presence of indicative symptoms, urinary markers for AHP diagnosis were not measured. Establishing a diagnostic strategy for undiagnosed abdominal pain would provide better opportunities for patients with NSAP and could help shorten the diagnostic journey for those with rare diseases such as AHP.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3014-3021"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}