ClinicsPub Date : 2026-01-01Epub Date: 2026-03-28DOI: 10.1016/j.clinsp.2026.100924
Hansong Yu, Yanting Zhou, Xiaoxiao Wang, Yuetong Pan, Hongyan Li
{"title":"Exploration of the mechanism of chemobrain related to neuroinflammation from 1994 to 2023","authors":"Hansong Yu, Yanting Zhou, Xiaoxiao Wang, Yuetong Pan, Hongyan Li","doi":"10.1016/j.clinsp.2026.100924","DOIUrl":"10.1016/j.clinsp.2026.100924","url":null,"abstract":"<div><h3>Background</h3><div>“Chemobrain”, or chemotherapy-related cognitive impairment, is a well-documented clinical phenomenon. While neuroinflammation has been proposed as a key underlying mechanism, a comprehensive mapping of the knowledge structure and evolution of this specific research domain is lacking.</div></div><div><h3>Methods</h3><div>The authors conducted a bibliometric analysis to quantitatively and visually characterize the scholarly literature on neuroinflammation and chemobrain. A total of 923 relevant publications from the Web of Science Core Collection (1994‒2023) were analyzed using VOSviewer.</div></div><div><h3>Results</h3><div>The analysis reveals a rapidly growing field, with a significant increase in publications and thematic focus on terms like cytokines, microglia, and oxidative stress in recent years. This shift signifies a move from purely descriptive studies toward mechanistic inquiry. While the United States has historically been the dominant contributor, China has emerged as a leading force in the past decade, indicating a global expansion of research interest.</div></div><div><h3>Conclusion</h3><div>This study provides the first holistic overview of the neuroinflammation and chemobrain research landscape, delineating its thematic evolution and collaborative networks. The findings underscore that neuroinflammation remains a highly active, yet not fully elucidated, mechanistic hypothesis driving the field. A key limitation is the bibliometric nature of the study, which reflects terminological and publication trends rather than direct biological validation. Future research should focus on integrating multi-omics data and conducting longitudinal clinical studies to substantiate these mechanistic links.</div></div>","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 100924"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147577470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ClinicsPub Date : 2026-01-01Epub Date: 2026-03-31DOI: 10.1016/j.clinsp.2026.100908
Amr Shaaban Hanafy , Mohamed Sorour Mohamed , Osama Attia , Ayman Fathy Elsayed Mohammed , Ahmad M. Hassaneen , Rania Naguib , Eslam Kamal Fahmy , Hany A. Elkattawy
{"title":"Cardiac safety of sofosbuvir-based direct-acting antivirals in hepatitis C patients with pre-existing heart disease","authors":"Amr Shaaban Hanafy , Mohamed Sorour Mohamed , Osama Attia , Ayman Fathy Elsayed Mohammed , Ahmad M. Hassaneen , Rania Naguib , Eslam Kamal Fahmy , Hany A. Elkattawy","doi":"10.1016/j.clinsp.2026.100908","DOIUrl":"10.1016/j.clinsp.2026.100908","url":null,"abstract":"<div><h3>Background</h3><div>Direct-Acting Antivirals (DAAs) are effective in 95% of patients, but concerns about potential cardiotoxicity and decreased Warfarin Sensitivity (WS) need further investigation. The study aimed to evaluate the safety and effectiveness of sofosbuvir-based therapy in patients with significant heart diseases, considering potential drug interactions and their impact on cardiac function.</div></div><div><h3>Methods</h3><div>The study involved 100 patients with HCV genotype 4, including 40 with ischemic heart disease, 20 with prosthetic valve replacement, 20 with NYHA class I‒II heart failure, and 20 with systemic hypertension. All received sofosbuvir-based antiviral therapy and underwent routine laboratory tests, N-Terminal B-type Natriuretic Peptide (NT-Pro BNP), abdominal ultrasound, and echocardiography at baseline and three months post-treatment.</div></div><div><h3>Results</h3><div>Ninety-six patients achieved SVR, resulting in improved cardiac ejection fraction (EF) from 53.2 ± 8.8% to 56.2 ± 6.9% (p = 0.000) and reduced left atrial volume (LAV) from 43.2 ± 4.2 to 41.7 ± 3.9 mm (p = 0.008). Liver stiffness also improved (p = 0.013), and no disabling symptoms were reported. MAPSE increased from 8.4 ± 2.4 mm to 9.5 ± 2.5 mm, and interventricular septum thickness (IVT) decreased from 12.5 ± 1.8 mm to 10.9 ± 1.3 mm (p = 0.001 and P = 0.000, respectively). The warfarin dose needed to be increased to optimize INR after SVR, but this adjustment did not affect WS (p = 0.16).</div></div><div><h3>Conclusion</h3><div>Sofosbuvir-based antiviral therapy was well tolerated and demonstrated a reassuring cardiac safety profile in HCV patients with pre-existing heart disease, with no major arrhythmias or adverse cardiac events observed during or after therapy.</div></div>","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 100908"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147597540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ClinicsPub Date : 2026-01-01Epub Date: 2026-03-12DOI: 10.1016/j.clinsp.2026.100902
Halime Tozak Yıldız , Kübra Tuğçe Kalkan , Özge Cengiz Mat , Eda Köseoğlu , Özge Göktepe , Gözde Özge Önder , Arzu Yay
{"title":"Comparative efficacy of melatonin and glutathione in mitigating carboplatin-induced ovarian toxicity in rats","authors":"Halime Tozak Yıldız , Kübra Tuğçe Kalkan , Özge Cengiz Mat , Eda Köseoğlu , Özge Göktepe , Gözde Özge Önder , Arzu Yay","doi":"10.1016/j.clinsp.2026.100902","DOIUrl":"10.1016/j.clinsp.2026.100902","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to compare the comparative protective effects of Melatonin (Mel) and Glutathione (GSH) against Carboplatin (CARB)-induced ovarian toxicity in rats, with a focus on folliculogenesis, oxidative stress, inflammation, and apoptosis.</div></div><div><h3>Methods</h3><div>Female Wistar rats were allocated into six groups: Control, GSH, Mel, CARB, GSH+CARB, and Mel+CARB. Mel and GSH were administered intraperitoneally for 7 days before CARB injection. Ovarian tissues were subjected to histopathological and morphometric analyses, while serum oxidative stress markers (MDA, SOD, CAT, GSH-Px), proinflammatory cytokines (TNF-α, IL-6), and AMH levels were quantified. Caspase-3 and NF-κB expressions were evaluated immunohistochemically.</div></div><div><h3>Results</h3><div>CARB caused severe ovarian injury characterized by marked follicular depletion, stromal edema, hemorrhage, inflammation, fibrosis, and a significant reduction in preantral and Graafian follicles, with a concomitant increase in atretic follicles (p < 0.01). Both Mel and GSH pre-treatment markedly reduced histological damage, restored follicular counts, improved antioxidant status, and suppressed inflammatory and apoptotic responses. Melatonin tended to exert stronger protective effects on certain parameters, particularly in preserving AMH levels, attenuating fibrosis, and reducing Caspase-3 and NF-κB expression, although the differences between Mel+CARB and GSH+CARB groups were not statistically significant in all comparisons.</div></div><div><h3>Conclusion</h3><div>Pre-treatment with melatonin or glutathione effectively mitigated CARB-induced ovarian toxicity by modulating oxidative stress, inflammation, and apoptosis. Melatonin appeared to provide relatively greater protection in some parameters, but without consistent statistical superiority over glutathione. These results underscore the potential of antioxidant-based strategies for fertility preservation during chemotherapy. Further studies with larger sample sizes and direct comparative analyses are warranted to clarify relative efficacy and confirm translational relevance.</div></div>","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 100902"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147449001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ClinicsPub Date : 2026-01-01Epub Date: 2026-07-08DOI: 10.1016/j.clinsp.2026.101032
Flavia C. Yarshell, Clara R. Doria, Ana Paula S. Ferrer, Artur F. Delgado, Claudia B. Fonseca, Darusa C. Souza, Pedro Henrique P. Sampaio, Maria Fernanda B. Pereira, Nadia E. Aikawa, Clovis A. Silva
{"title":"Vaccination in immunocompetent and immunosuppressed youth with special health care needs during healthcare transition","authors":"Flavia C. Yarshell, Clara R. Doria, Ana Paula S. Ferrer, Artur F. Delgado, Claudia B. Fonseca, Darusa C. Souza, Pedro Henrique P. Sampaio, Maria Fernanda B. Pereira, Nadia E. Aikawa, Clovis A. Silva","doi":"10.1016/j.clinsp.2026.101032","DOIUrl":"10.1016/j.clinsp.2026.101032","url":null,"abstract":"","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 101032"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148414572","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}
ClinicsPub Date : 2026-01-01Epub Date: 2026-04-23DOI: 10.1016/j.clinsp.2026.100944
Mulan Deng , Yanjie Chen , Hongye Chen, Qihui Chen
{"title":"miR-1180–3p as a biomarker of obstructive sleep apnea hypopnea syndrome and its role in chronic intermittent hypoxia-induced vascular injury","authors":"Mulan Deng , Yanjie Chen , Hongye Chen, Qihui Chen","doi":"10.1016/j.clinsp.2026.100944","DOIUrl":"10.1016/j.clinsp.2026.100944","url":null,"abstract":"<div><h3>Background</h3><div>Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS), a common sleep-related breathing disorder, is closely associated with an increased risk of cardiovascular and metabolic comorbidities. Polysomnography, the diagnostic gold standard, is costly and environmentally sensitive. This study explored the diagnostic potential of miR-1180–3p and its role in Chronic Intermittent Hypoxia (CIH)-induced vascular injury.</div></div><div><h3>Methods</h3><div>Serum miR-1180–3p and CERS1 levels were measured in 112 OSAHS patients and 88 controls via qRT-PCR. Correlations with PSG parameters (LSpO₂, AHI, TS90%) were analyzed. In vitro, HUVECs were exposed to CIH, and miR-1180–3p effects on cell viability, apoptosis, and oxidative stress (MDA, SOD, GSH-Px) were assessed. TargetScan and dual-luciferase assays validated miR-1180–3p-CERS1 binding. Evaluating miR-1180–3p/CERS1 axis regulation of OSAHS pathogenesis via co-inhibition experiments.</div></div><div><h3>Results</h3><div>A significant upregulation of miR-1180–3p was detected in OSAHS patients (p < 0.001). miR-1180–3p served as an independent risk factor for OSAHS (OR = 5.405, 95% CI 2.247‒13.001) and held diagnostic value (AUC = 0.882). miR-1180–3p correlated negatively with LSpO<sub>2</sub> (<em>r</em> = -0.705) but positively with AHI (<em>r</em> = 0.676) and TS90% (<em>r</em> = 0.774), with correlations persisting across mild, moderate, and severe OSAHS subgroups. In CIH-treated HUVECs, miR-1180–3p inhibition restored cell viability, reduced apoptosis, and alleviated oxidative stress. CERS1 was confirmed as a direct target, and its silencing reversed miR-1180–3p inhibition-mediated protection.</div></div><div><h3>Conclusion</h3><div>miR-1180–3p was a novel diagnostic biomarker for OSAHS. By targeting CERS1, miR-1180–3p exacerbated CIH-induced damage to HUVECs, thereby regulating the pathological progression of OSAHS.</div></div>","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 100944"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147747528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Systematic literature review on biopsychosocial factors in the surgical waiting list","authors":"Fabián Silva-Aravena, Jenny Morales, Leonidas López Canales","doi":"10.1016/j.clinsp.2026.100906","DOIUrl":"10.1016/j.clinsp.2026.100906","url":null,"abstract":"<div><div>Prioritizing patients on elective surgical waiting lists is one of the strategies to reduce waiting times for care, improve Health-Related Quality of Life (HRQoL), and optimize clinical resources. According to the World Health Organization (WHO) recommendations, including biopsychosocial factors in the Clinical Priority Assessment Criteria (CPAC) is critical for an equitable and efficient allocation of surgical treatments. Long waiting lists, decreased Health-Related Quality of life (HRQoL), lack of capacity of health care facilities, and lack of policies to improve these problems negatively affect the population worldwide. This article presents a systematic literature review to identify biopsychosocial factors that can be used for prioritizing patients on surgical waiting lists. 71 articles were studied, finding that the most frequently mentioned biopsychosocial factors are pain and/or discomfort, followed by patient age, disease severity, comorbidities, expected complications after the procedure, ability to work and/or study, efficacy of the procedure and/or expected improvement, time on the waiting list, ability to participate in family/social activities, impact on the disease if surgery is delayed, need for a caregiver, effect on the procedure if surgery is delayed, composition and size of the surgical team, being a caregiver, length of hospital stay, urgency of the procedure, among others. These findings reinforce the importance of a comprehensive assessment of the patient and the environment to improve clinical outcomes and equity in access to surgical interventions by integrating the patient and physician perspectives in pursuit of better outcomes.</div></div>","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 100906"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147535425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ClinicsPub Date : 2026-01-01Epub Date: 2026-04-25DOI: 10.1016/j.clinsp.2026.100963
Szilvia Mihályi , Flóra Borbála Horváth , Ákos Wágner , Judit Anna Kolonics , László Simonffy , Péter Hermann
{"title":"Ultrasound examination of asymmetry in temporomandibular disorders","authors":"Szilvia Mihályi , Flóra Borbála Horváth , Ákos Wágner , Judit Anna Kolonics , László Simonffy , Péter Hermann","doi":"10.1016/j.clinsp.2026.100963","DOIUrl":"10.1016/j.clinsp.2026.100963","url":null,"abstract":"<div><h3>Purpose</h3><div>Ultrasonography is a non-invasive, radiation-free, and cost-effective imaging modality for evaluating the Temporomandibular Joint (TMJ) and Masticatory Muscles (MM). Despite its clinical potential, a standardized quantitative ultrasound protocol for assessing masticatory system asymmetry in Temporomandibular Disorders (TMD) is lacking. This pilot study aimed to evaluate the feasibility of a standardized ultrasound protocol for the quantitative assessment of masticatory system asymmetry and to explore its preliminary associations with TMD-related symptoms.</div></div><div><h3>Materials and methods</h3><div>Fifteen young adult participants (aged 19–26 years) underwent bilateral ultrasound examination of the masticatory muscles (masseter, temporalis, lateral pterygoid, and sternocleidomastoid muscles) and TMJ structures, including interarticular spaces and articular components. Measurements were performed by trained examiners using standardized anatomical landmarks. Asymmetry was quantified using percentage difference indices and aggregated into a composite anatomical asymmetry score. Proposed asymmetry reference values were applied for descriptive purposes only, and all statistical analyses were conducted on an exploratory, hypothesis-generating basis.</div></div><div><h3>Results</h3><div>The composite anatomical asymmetry index differed from symmetry (mean ± SD: 18.45% ± 17.13%). An association was observed between anatomical asymmetry and joint sounds (crepitation) (Spearman’s ρ = 0.88), while pain showed a lower-magnitude association (ρ = 0.51).</div></div><div><h3>Conclusion</h3><div>This pilot study demonstrates the feasibility of a standardized ultrasound-based protocol for the quantitative assessment of masticatory system asymmetry. The findings are exploratory and intended to support methodological development and hypothesis generation. Further validation in larger, blinded study populations is warranted.</div></div>","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 100963"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147794781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ClinicsPub Date : 2026-01-01Epub Date: 2026-04-17DOI: 10.1016/j.clinsp.2026.100959
Lei Zhou, Jialin Jia, Xingren Chen, Tong Chen
{"title":"An exploratory Mendelian randomization study on the genetically predicted effects of circulating blood cells on osteoarthritis risk","authors":"Lei Zhou, Jialin Jia, Xingren Chen, Tong Chen","doi":"10.1016/j.clinsp.2026.100959","DOIUrl":"10.1016/j.clinsp.2026.100959","url":null,"abstract":"<div><h3>Background</h3><div>The causal relationship between circulating blood cells and Osteoarthritis (OA) remains unclear. This study aimed to explore this potential relationship using a two-sample Mendelian Randomization (MR) approach.</div></div><div><h3>Methods</h3><div>Data from large-scale GWAS (Blood Cell Consortium and GWAS Catalog) were analyzed using two-sample MR methods, with Inverse Variance Weighting as the primary approach. A Bonferroni correction was applied for multiple testing for the two primary traits. Robustness was assessed through comprehensive sensitivity analyses for heterogeneity and pleiotropy.</div></div><div><h3>Results</h3><div>After Bonferroni correction, Genetically Predicted Hemoglobin (HGB) showed a weak genetic association consistent with a potential causal pathway for OA risk (OR = 1.004, 95% CI 1.001–1.007, p = 0.018). The association for Neutrophil (NEU) count was not statistically significant. While sensitivity analyses did not detect directional pleiotropy, significant heterogeneity was observed for the genetic instruments.</div></div><div><h3>Conclusion</h3><div>This exploratory study provides preliminary genetic evidence for a statistically significant but clinically negligible MR estimate of hemoglobin in OA pathogenesis. The clinical and biological significance of this minuscule effect remains uncertain. The findings should be interpreted as hypothesis-generating, highlighting the need for further research rather than establishing a definitive causal link.</div></div>","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 100959"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147709524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ClinicsPub Date : 2026-01-01Epub Date: 2026-04-15DOI: 10.1016/j.clinsp.2026.100931
Teresa Lopez de Coca , María Sebastian-Morello , Roxana González-Mazarío , Lucrecia Moreno
{"title":"Anticholinergic burden in fibromyalgia treatment analysis: Guidelines adherence and pharmacological alerts","authors":"Teresa Lopez de Coca , María Sebastian-Morello , Roxana González-Mazarío , Lucrecia Moreno","doi":"10.1016/j.clinsp.2026.100931","DOIUrl":"10.1016/j.clinsp.2026.100931","url":null,"abstract":"<div><h3>Objectives</h3><div>This study examines the challenges related to pharmacological outcomes in Fibromyalgia (FM), a multifaceted syndrome characterized by widespread pain, cognitive impairment, and fatigue. It aims to evaluate medication use patterns, identify potential drug-drug interactions, assess adherence to clinical guidelines, and determine how these pharmacological factors may contribute to symptoms often described as fibro-fog and influence overall health and well-being.</div></div><div><h3>Methods</h3><div>This cross-sectional study analyzed medication usage and potential drug interactions in women with FM. Tools such as CheckTheMeds® and the CRIDECO Anticholinergic Load Scale were employed to assess the pharmacological appropriateness of treatments in alignment with clinical guidelines and to quantify anticholinergic burden.</div></div><div><h3>Results</h3><div>A total of 881 medication alerts were reviewed, corresponding to 108 women with FM (mean age: 54.06 ± 8.43). Pain management medications accounted for 72.94% of the total medications prescribed. The analysis revealed a significant anticholinergic burden in 50.93% of the patients.</div></div><div><h3>Conclusions</h3><div>Pharmacological reviews are essential in the management of FM, as they enhance treatment safety, minimize risks such as CNS depression and excessive anticholinergic burden. Optimizing medication regimens may indirectly influence symptoms commonly reported in fibromyalgia, including those often referred to as <em>fibro-fog,</em> while supporting safer and more individualized treatment strategies.</div></div>","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 100931"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147701838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ClinicsPub Date : 2026-01-01Epub Date: 2026-02-25DOI: 10.1016/j.clinsp.2026.100889
Zhixin Wang , Lili Huo , Ling Lan , Yongzeng Chen , Qingyao Zuo , Wei Deng
{"title":"Low prevalence of GCK gene mutations in Chinese patients with gestational diabetes mellitus","authors":"Zhixin Wang , Lili Huo , Ling Lan , Yongzeng Chen , Qingyao Zuo , Wei Deng","doi":"10.1016/j.clinsp.2026.100889","DOIUrl":"10.1016/j.clinsp.2026.100889","url":null,"abstract":"<div><h3>Background and aim</h3><div>Accumulating evidence suggests maturity onset diabetes of the young (MODY) caused by <em>GCK</em> gene mutations (<em>GCK</em>-MODY) is often misdiagnosed as Gestational Diabetes Mellitus (GDM) in pregnant women. This study investigated the prevalence and diagnostic value of <em>GCK</em> gene mutations in Chinese GDM patients.</div></div><div><h3>Methods</h3><div>A retrospective analysis was conducted on 3394 pregnant women undergoing prenatal care or delivery at Beijing Jishuitan Hospital between April and December 2019. GDM was diagnosed in 474 women (14.0%) using the International Association of Diabetes and Pregnancy Study Groups (IADPSG, 2010) criteria via a 75 g Oral Glucose Tolerance Test (OGTT). Among these, 177 GDM patients with fasting blood glucose ≥5.1 mmoL/L underwent targeted <em>GCK</em> gene sequencing.</div></div><div><h3>Results</h3><div>Targeted sequencing identified eight rare <em>GCK</em> variants in nine individuals. None of the variant carriers met definitive diagnostic criteria for <em>GCK</em>-MODY. The prevalence of rare <em>GCK</em> variants in the screened GDM subgroup was 1.9% (9/474).</div></div><div><h3>Conclusion</h3><div>The low prevalence (1.9%) of rare <em>GCK</em> variants and absence of confirmed <em>GCK</em>-MODY cases indicate limited utility of fasting glucose-based screening for <em>GCK</em>-MODY in Chinese GDM populations. These findings highlight challenges in distinguishing <em>GCK</em>-MODY from GDM through conventional glucose thresholds.</div></div>","PeriodicalId":10472,"journal":{"name":"Clinics","volume":"81 ","pages":"Article 100889"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147314512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}