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Characterizing Differences in Endolymphatic Hydrops Signatures Among Meniere's Disease Patients with and Without Migraine. 伴有和不伴有偏头痛的梅尼埃病患者淋巴内积液特征的差异
IF 4.4 Q1 Medicine Pub Date : 2026-01-07 DOI: 10.3390/medsci14010029
Yoshiyuki Sasano, Fumihiro Mochizuki, Yusuke Ito, Erin Williams, Izumi Koizuka, Michael E Hoffer, Manabu Komori

Background/Objectives: Migraine is frequently comorbid with Meniere's disease, which may complicate interpretation of inner ear imaging and clinical diagnosis. While endolymphatic hydrops has been studied in Meniere's disease and vestibular migraine separately, comparative imaging data for Meniere's disease patients with and without migraine remain limited. Methods: We retrospectively analyzed 78 patients with definite Meniere's disease who underwent endolymphatic contrast-enhanced MRI (HYbriD of Reversed image of Positive endolymph signal and native image of positive perilymph signal; or "HYDROPS"). Patients were classified as Meniere's disease only group (n = 56), or Meniere's disease with migraine (n = 22). The degree of endolymphatic hydrops (negative, mild, or significant) was assessed separately in the inner ear, the cochlea, and the vestibule. Results: In Meniere's disease group, the affected ear consistently showed higher rates of significant endolymphatic hydrops compared to the healthy ear across the inner ear, cochlea, and vestibule (p < 0.01). In contrast, Meniere's disease with migraine group showed no significant interaural differences. Meniere's disease with migraine group showed a significantly higher frequency of significant endolymphatic hydrops in the healthy cochlea (p < 0.01). Similar patterns were observed in the inner ear (p < 0.025) and vestibule (p = 0.05), although these differences did not reach statistical significance. Bilateral hydrops was significantly more frequent in Meniere's disease with migraine group than in Meniere's disease group among all regions investigated (p < 0.05). Conclusions: Meniere's disease patients with migraine exhibit a distinct endolymphatic hydrops pattern, characterized by bilateral or symmetrical hydrops and involvement of the healthy ear. These findings suggest migraine-related mechanisms may contribute to endolymphatic hydrops, and bilateral endolymphatic hydrops on endolymphatic contrast-enhanced MRI in suspected Meniere's disease cases should prompt consideration of comorbid migraine, in addition to bilateral Meniere's disease or asymptomatic hydrops.

背景/目的:偏头痛经常与梅尼埃病合并症,这可能会使内耳影像学的解释和临床诊断复杂化。虽然已经分别研究了梅尼埃病和前庭偏头痛的内淋巴积液,但梅尼埃病伴和不伴偏头痛患者的比较影像学数据仍然有限。方法:我们回顾性分析了78例确诊为梅尼埃病的患者,他们接受了内淋巴增强MRI检查(内淋巴阳性信号反转图像和淋巴周围阳性信号原生图像混合,或“HYDROPS”)。将患者分为单纯梅尼埃病组(n = 56)和伴有偏头痛的梅尼埃病组(n = 22)。分别评估内耳、耳蜗和前庭的内淋巴水肿程度(阴性、轻度或显著)。结果:梅尼埃氏病组患耳内耳、耳蜗、前庭显著性内淋巴积液发生率均高于正常耳(p < 0.01)。相比之下,梅尼埃病合并偏头痛组没有明显的耳际差异。梅尼埃病合并偏头痛组正常耳蜗内淋巴水肿发生率显著增高(p < 0.01)。内耳(p < 0.025)和前庭(p = 0.05)也有类似的变化,但差异无统计学意义。在所有调查地区中,梅尼埃病合并偏头痛组双侧积液发生率明显高于梅尼埃病组(p < 0.05)。结论:伴有偏头痛的梅尼埃病患者表现出明显的内淋巴积液模式,其特征是双侧或对称积液并累及健康耳。这些发现提示偏头痛相关的机制可能导致内淋巴积液,在怀疑梅尼埃病的病例中,除了双侧梅尼埃病或无症状积液外,内淋巴增强MRI显示的双侧内淋巴积液应提示考虑偏头痛合并症。
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引用次数: 0
Short- and Middle-Term Nephroprotective and Cardioprotective Effects of Pentoxifylline in Patients with Diabetic Nephropathy: A Randomized Controlled Trial. 己酮茶碱对糖尿病肾病患者的中短期肾保护和心脏保护作用:一项随机对照试验。
IF 4.4 Q1 Medicine Pub Date : 2026-01-06 DOI: 10.3390/medsci14010026
Oliva Mejía-Rodríguez, Marcela Ávila-Díaz, Carmen Prado-Uribe, María Eugenia Galván-Plata, Helios Vega Gómez, Cleto Álvarez-Aguilar, Miguel Angel Cuevas-Budhart, Ramón Paniagua

Background/Objectives. Pentoxifylline (PTF) is an effective treatment to delay the progress of Diabetic Nephropathy; it also has beneficial effects on heart failure, two closely related clinical conditions. However, the simultaneous Nephroprotective and Cardioprotective effects of PTF have not been appropriately analyzed. The objective of this study was to analyze if both effects occur together in Diabetic patients. Material and Methods. A Randomized Controlled Trial was performed to compare Placebo (P-G) vs. PTF (400 mg/8 h) (PTF-G) in patients with CKD stages III-IV (KDIGO) due to Diabetic Nephropathy. Creatinine-Cystatin C-based Estimated Glomerular Filtration Rate (eGFRCysCCr) and Microalbuminuria were evaluated at baseline, six, and twelve months. Echocardiographic assessment of heart morphology and function was performed. Results. Ninety-three patients were available for the final analysis, 52 in the PTF group and 41 in the P group. There were no differences in clinical and biochemical parameters between groups at baseline. At 6 months, microalbuminuria changed 27.96 ± 43.06 in P-G and -30.27 ± 41.48 mg/24 h in PTF-G (p < 0.001), eGFRCysCCr changed -1.55 ± 7.10 in P-G and 1.40 ± 7.28 mL/min/1.73 m2 in PTF-G (p = 0.083), and left ventricular mass index (LVMI) changed 10.86 ± 16.40 in P-G and -2.71 ± 19.52 g/m2 in PTF-G (p = 0.001). At 12 months, microalbuminuria changed 24.10 ± 43.28 in P-G and -43.18 ± 52.13 mg/24 h in PTF-G (p < 0.001), eGFRCysCCr changed -6.55 ± 10.18 in P-G and 0.98 ± 8.17 mL/min/1.73 m2 in PTF-G (p = 0.008), and LVMI changed 20.79 ± 20.06 in P-G and -0.82 ± 25.95 g/m2 in PTF-G (p = 0.028). No significant adverse events occurred in any group. Conclusions. Pentoxifylline is a safe and effective treatment with combined Nephroprotective and Cardioprotective effects in advanced diabetic nephropathy.

背景/目标。己酮茶碱(PTF)是延缓糖尿病肾病进展的有效药物;它对心力衰竭也有有益的作用,这是两种密切相关的临床疾病。然而,PTF同时具有的肾保护和心脏保护作用尚未得到适当的分析。本研究的目的是分析这两种效应是否在糖尿病患者中同时发生。材料和方法。进行了一项随机对照试验,比较安慰剂(P-G)和PTF (400mg /8 h) (PTF- g)在糖尿病肾病CKD III-IV期(KDIGO)患者中的疗效。以肌酐-胱抑素c为基础的肾小球滤过率(eGFRCysCCr)和微量白蛋白尿在基线、6个月和12个月进行评估。超声心动图评估心脏形态和功能。结果。93例患者可用于最终分析,PTF组52例,P组41例。两组在基线时的临床及生化指标均无差异。6个月时,p - g组微量白蛋白尿变化为27.96±43.06,PTF-G组为-30.27±41.48 mg/24 h (p < 0.001); PTF-G组eGFRCysCCr变化为-1.55±7.10,PTF-G组为1.40±7.28 mL/min/1.73 m2 (p = 0.083);左心室质量指数(LVMI)变化为10.86±16.40,PTF-G组为-2.71±19.52 g/m2 (p = 0.001)。12个月时,p - g组微量白蛋白尿变化为24.10±43.28 mg/ h, PTF-G组为-43.18±52.13 mg/ h (p < 0.001); PTF-G组eGFRCysCCr变化为-6.55±10.18 mL/min/1.73 m2, PTF-G组为0.98±8.17 mL/min/1.73 m2 (p = 0.008); LVMI变化为20.79±20.06 mg/ min, PTF-G组为-0.82±25.95 g/m2 (p = 0.028)。两组均未发生明显不良事件。结论。己酮茶碱是一种安全有效的治疗晚期糖尿病肾病的联合肾保护和心脏保护的药物。
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引用次数: 0
The Diagnostic Potential of Eye Tracking to Detect Autism Spectrum Disorder in Children: A Systematic Review. 眼动追踪检测儿童自闭症谱系障碍的诊断潜力:系统综述。
IF 4.4 Q1 Medicine Pub Date : 2026-01-06 DOI: 10.3390/medsci14010028
Marcella Di Cara, Carmela De Domenico, Adriana Piccolo, Angelo Alito, Lara Costa, Angelo Quartarone, Francesca Cucinotta

Background: Autism spectrum disorder (ASD) is associated with distinct visual attention patterns that provide insight into underlying social-cognitive mechanisms. Methods: This systematic review (PROSPERO: CRD42023429316), conducted per PRISMA guidelines, synthesizes evidence from 14 peer-reviewed studies using eye-tracking to compare oculomotor strategies in autistic children and typically developing (TD) controls. A comprehensive literature search was conducted in PubMed, Web of Science, and Science Direct up to March 2025. Study inclusion criteria focused on ASD versus TD group comparisons in individuals under 18 years, with key metrics, fixation duration and count, spatial distribution, saccadic parameters systematically extracted. Risk of bias was assessed using the QUADAS-2 tool, revealing high heterogeneity in both index tests and patient selection. Results: The results indicate that autistic children exhibit reduced fixation on socially salient stimuli, atypical saccadic behavior, and more variable spatial exploration compared to controls. Conclusions: These oculomotor differences suggest altered mechanisms of social attention and information processing in ASD. Findings suggest that eye-tracking can contribute valuable information about heterogeneous gaze profiles in ASD, providing preliminary insight that may inform future studies to develop more sensitive diagnostic tools. This review highlights visual attention patterns as promising indicators of neurocognitive functioning in ASD.

背景:自闭症谱系障碍(ASD)与不同的视觉注意模式有关,这为潜在的社会认知机制提供了见解。方法:本系统综述(PROSPERO: CRD42023429316)根据PRISMA指南进行,综合了来自14项同行评议的研究的证据,使用眼动追踪来比较自闭症儿童和典型发育(TD)对照组的眼球运动策略。在PubMed、Web of Science和Science Direct进行了全面的文献检索,截止到2025年3月。研究纳入标准侧重于18岁以下个体的ASD和TD组比较,并系统地提取关键指标,注视时间和计数,空间分布,眼跳参数。使用QUADAS-2工具评估偏倚风险,显示指数测试和患者选择均具有高度异质性。结果:与对照组相比,自闭症儿童对社会显著性刺激的注视减少,跳跃性行为不典型,空间探索的多样性增加。结论:这些动眼肌差异提示ASD患者社会注意和信息加工机制的改变。研究结果表明,眼动追踪可以为ASD的异质性凝视谱提供有价值的信息,为未来研究开发更敏感的诊断工具提供初步的见解。这篇综述强调了视觉注意模式作为ASD神经认知功能的有希望的指标。
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引用次数: 0
Improved Sphincter Muscle Regeneration by Myoblasts from M. extensor carpi radialis in a Large Animal Model of Urinary Incontinence. 大型尿失禁动物模型中桡侧腕伸肌成肌细胞促进括约肌再生。
IF 4.4 Q1 Medicine Pub Date : 2026-01-06 DOI: 10.3390/medsci14010027
Niklas Harland, Lukas Schwarz, Meltem Avci-Adali, Andrea Buzanich-Ladinig, Lina M Serna-Higuita, Arnulf Stenzl, Wilhelm K Aicher

Purpose: Stress urinary incontinence (SUI) is a significant medical challenge affecting substantial parts of modern societies. Several studies suggested that cell therapy may alleviate the symptoms. However, in many cases, the overall efficacy was not satisfactory for the patient's needs. Moreover, in our recent preclinical studies, myoblasts isolated from M. semitendinosus failed to restore significant urethral sphincter function. We, therefore, investigated in our large animal SUI model whether myoblasts from other muscles yielded better sphincter recovery. Methods: Urethral sphincter deficiency was induced surgically in six female littermates and confirmed by measuring the urethral wall pressure. Three days after induction of sphincter deficiency in gilts, homologous myoblasts were injected into the sphincter complex. The urethral wall pressure and urine status were monitored weekly for a six-week follow-up. Results: Myoblasts isolated from M. extensor carpi radialis yielded a high expression of the myogenic markers desmin, CD56, ACTA1, MSTN, Myf6, and MyoD; were differentiation-competent; and formed myotubes in vitro. Such cells restored significant sphincter deficiency (2494 ± 266 U; ≙92%; p < 0.001; n = 6) and yielded a complete functional recovery from the induced sphincter deficiency (481 ± 123 U, ≙18%) when compared to the starting levels of untreated healthy pigs (2683 ± 764 U; ≙100%). The experimental group showed significant recovery compared to the mock controls (p < 0.045). Conclusions: The choice of myoblasts contributes to the clinical outcome in our large animal model of urinary incontinence. Myoblasts from M. extensor carpi radialis facilitated better sphincter recovery compared to myoblasts from M. semitendinosus.

目的:压力性尿失禁(SUI)是影响现代社会大部分地区的重大医学挑战。几项研究表明,细胞疗法可能减轻症状。然而,在许多情况下,总体疗效不能满足患者的需要。此外,在我们最近的临床前研究中,从半腱鼠分离的成肌细胞未能恢复尿道括约肌功能。因此,我们在大型动物SUI模型中研究了来自其他肌肉的成肌细胞是否能更好地恢复括约肌。方法:对6只雌鼠进行手术诱导尿道括约肌缺损,并通过测量尿道壁压力进行确诊。在诱导母猪括约肌缺陷3天后,将同源成肌细胞注射到括约肌复合体中。每周监测尿道壁压力和尿况,随访6周。结果:从桡侧腕伸肌分离的成肌细胞高表达成肌标志物desmin、CD56、ACTA1、MSTN、Myf6和MyoD;differentiation-competent;并在体外形成肌管。这些细胞恢复了显著的括约肌缺陷(2494±266 U; 92%; p < 0.001; n = 6),与未治疗的健康猪的初始水平(2683±764 U; 100%)相比,诱导的括约肌缺陷(481±123 U, 18%)完全恢复了功能。与模拟对照组相比,实验组恢复明显(p < 0.045)。结论:在我们的大型尿失禁动物模型中,肌母细胞的选择有助于临床结果。桡侧腕伸肌的成肌细胞比半腱肌的成肌细胞更能促进括约肌的恢复。
{"title":"Improved Sphincter Muscle Regeneration by Myoblasts from <i>M. extensor carpi radialis</i> in a Large Animal Model of Urinary Incontinence.","authors":"Niklas Harland, Lukas Schwarz, Meltem Avci-Adali, Andrea Buzanich-Ladinig, Lina M Serna-Higuita, Arnulf Stenzl, Wilhelm K Aicher","doi":"10.3390/medsci14010027","DOIUrl":"10.3390/medsci14010027","url":null,"abstract":"<p><p><b>Purpose:</b> Stress urinary incontinence (SUI) is a significant medical challenge affecting substantial parts of modern societies. Several studies suggested that cell therapy may alleviate the symptoms. However, in many cases, the overall efficacy was not satisfactory for the patient's needs. Moreover, in our recent preclinical studies, myoblasts isolated from <i>M. semitendinosus</i> failed to restore significant urethral sphincter function. We, therefore, investigated in our large animal SUI model whether myoblasts from other muscles yielded better sphincter recovery. <b>Methods:</b> Urethral sphincter deficiency was induced surgically in six female littermates and confirmed by measuring the urethral wall pressure. Three days after induction of sphincter deficiency in gilts, homologous myoblasts were injected into the sphincter complex. The urethral wall pressure and urine status were monitored weekly for a six-week follow-up. <b>Results:</b> Myoblasts isolated from <i>M. extensor carpi radialis</i> yielded a high expression of the myogenic markers desmin, CD56, ACTA1, MSTN, Myf6, and MyoD; were differentiation-competent; and formed myotubes in vitro. Such cells restored significant sphincter deficiency (2494 ± 266 U; ≙92%; <i>p</i> < 0.001; n = 6) and yielded a complete functional recovery from the induced sphincter deficiency (481 ± 123 U, ≙18%) when compared to the starting levels of untreated healthy pigs (2683 ± 764 U; ≙100%). The experimental group showed significant recovery compared to the mock controls (<i>p</i> < 0.045). <b>Conclusions:</b> The choice of myoblasts contributes to the clinical outcome in our large animal model of urinary incontinence. Myoblasts from <i>M. extensor carpi radialis</i> facilitated better sphincter recovery compared to myoblasts from <i>M. semitendinosus</i>.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146013685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preoperative Prognostic Score for Patients with Intrahepatic Cholangiocarcinoma Undergoing Curative-Intent Resection. 肝内胆管癌行治疗目的切除患者的术前预后评分。
IF 4.4 Q1 Medicine Pub Date : 2026-01-05 DOI: 10.3390/medsci14010023
Jarin Chindaprasirt, Thanachai Sanlung, Piyakarn Watcharenwong, Vasin Thanasukarn, Apiwat Jareanrat, Natcha Khuntikeo, Tharatip Srisuk, Prakasit Sa-Ngiamwibool, Chaiwat Aphivatanasiri, Watcharin Loilome, Piya Prajumwongs, Attapol Titapun

Background: Preoperative inflammatory and nutrition-related markers-including the neutrophil-to-lymphocyte ratio (NLR), lymphocyte-to-monocyte ratio (LMR), prognostic nutritional index (PNI), and controlling nutritional status (CONUT) score-have shown prognostic relevance in various malignancies. However, their comparative utility in predicting recurrence and survival across clinically relevant subgroups in patients with intrahepatic cholangiocarcinoma (iCCA) undergoing curative-intent resection remains unclear.

Methods: This retrospective study included 213 patients with histologically confirmed iCCA who underwent curative-intent resection between 2015 and 2021. Preoperative NLR, LMR, PNI, and CONUT scores were calculated from laboratory data obtained within one week before resection. Clinicopathological variables, recurrence, and survival outcomes were analyzed using Cox regression and Kaplan-Meier methods.

Results: A preoperative NLR ≥ 2.4 was independently associated with poorer DFS (HR = 1.66, p = 0.025) and OS (HR = 1.94, p = 0.006). This effect remained significant in patients with R0 resection (DFS: HR = 1.66, p = 0.004; OS: HR = 2.11, p = 0.014) and in those who subsequently developed recurrence (OS: HR = 1.83, p = 0.004). The CONUT score was correlated with OS in both R0 and recurrent subgroups. Tumor morphology, consistent with prior reports, was identified as a postoperative pathological factor associated with worse prognosis.

Conclusions: Preoperative NLR was associated with poorer DFS and OS in iCCA patients undergoing curative-intent resection. This association was consistently observed in subgroups with R0 resection and in those who developed recurrence. Meanwhile, the CONUT score showed limited independent significance only among patients with R0 resection who experienced recurrence.

背景:术前炎症和营养相关指标——包括中性粒细胞与淋巴细胞比值(NLR)、淋巴细胞与单核细胞比值(LMR)、预后营养指数(PNI)和控制营养状态(CONUT)评分——已显示出与各种恶性肿瘤的预后相关。然而,它们在预测肝内胆管癌(iCCA)患者在临床相关亚组中接受治疗性切除的复发和生存方面的比较效用尚不清楚。方法:这项回顾性研究包括213例组织学证实的iCCA患者,这些患者在2015年至2021年间接受了治愈性切除。术前NLR、LMR、PNI和CONUT评分根据手术前一周内获得的实验室数据计算。使用Cox回归和Kaplan-Meier方法分析临床病理变量、复发和生存结果。结果:术前NLR≥2.4与较差的DFS (HR = 1.66, p = 0.025)和OS (HR = 1.94, p = 0.006)独立相关。这种效果在R0切除术患者(DFS: HR = 1.66, p = 0.004; OS: HR = 2.11, p = 0.014)和随后复发的患者(OS: HR = 1.83, p = 0.004)中仍然显著。在R0和复发亚组中,CONUT评分与OS相关。肿瘤形态与先前的报道一致,被确定为与预后较差相关的术后病理因素。结论:术前NLR与接受治疗目的切除的iCCA患者较差的DFS和OS相关。这种关联在R0切除的亚组和复发的亚组中一致观察到。同时,CONUT评分仅在复发的R0切除患者中显示有限的独立意义。
{"title":"Preoperative Prognostic Score for Patients with Intrahepatic Cholangiocarcinoma Undergoing Curative-Intent Resection.","authors":"Jarin Chindaprasirt, Thanachai Sanlung, Piyakarn Watcharenwong, Vasin Thanasukarn, Apiwat Jareanrat, Natcha Khuntikeo, Tharatip Srisuk, Prakasit Sa-Ngiamwibool, Chaiwat Aphivatanasiri, Watcharin Loilome, Piya Prajumwongs, Attapol Titapun","doi":"10.3390/medsci14010023","DOIUrl":"10.3390/medsci14010023","url":null,"abstract":"<p><strong>Background: </strong>Preoperative inflammatory and nutrition-related markers-including the neutrophil-to-lymphocyte ratio (NLR), lymphocyte-to-monocyte ratio (LMR), prognostic nutritional index (PNI), and controlling nutritional status (CONUT) score-have shown prognostic relevance in various malignancies. However, their comparative utility in predicting recurrence and survival across clinically relevant subgroups in patients with intrahepatic cholangiocarcinoma (iCCA) undergoing curative-intent resection remains unclear.</p><p><strong>Methods: </strong>This retrospective study included 213 patients with histologically confirmed iCCA who underwent curative-intent resection between 2015 and 2021. Preoperative NLR, LMR, PNI, and CONUT scores were calculated from laboratory data obtained within one week before resection. Clinicopathological variables, recurrence, and survival outcomes were analyzed using Cox regression and Kaplan-Meier methods.</p><p><strong>Results: </strong>A preoperative NLR ≥ 2.4 was independently associated with poorer DFS (HR = 1.66, <i>p</i> = 0.025) and OS (HR = 1.94, <i>p</i> = 0.006). This effect remained significant in patients with R0 resection (DFS: HR = 1.66, <i>p</i> = 0.004; OS: HR = 2.11, <i>p</i> = 0.014) and in those who subsequently developed recurrence (OS: HR = 1.83, <i>p</i> = 0.004). The CONUT score was correlated with OS in both R0 and recurrent subgroups. Tumor morphology, consistent with prior reports, was identified as a postoperative pathological factor associated with worse prognosis.</p><p><strong>Conclusions: </strong>Preoperative NLR was associated with poorer DFS and OS in iCCA patients undergoing curative-intent resection. This association was consistently observed in subgroups with R0 resection and in those who developed recurrence. Meanwhile, the CONUT score showed limited independent significance only among patients with R0 resection who experienced recurrence.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821497/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146013768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort. 色素性视网膜炎的临床特征和遗传因素:对土耳其患者队列的回顾性分析。
IF 4.4 Q1 Medicine Pub Date : 2026-01-05 DOI: 10.3390/medsci14010024
Aykut Demirkol, Fadime Kendir Uguz, Nuri Murat Cavus, Ilay Demirkol, Stephen H Tsang

Background: Retinitis Pigmentosa (RP) is a group of inherited retinal dystrophies with significant genetic heterogeneity. The prevalence and clinical characteristics may vary among different populations due to genetic and cultural factors.

Objective: To analyze the clinical characteristics, demographic distribution, and genetic factors of RP patients in this cohort of 95 Turkish RP patients.

Methods: This retrospective study analyzed data from 95 RP patients collected through structured questionnaires and clinical records. Data included age of symptom onset, family history, consanguineous marriage history, visual acuity, and genetic test results.

Results: The mean patient age was 36.0 ± 12.6 years (range: 13-71 years). Mean symptom onset age was 14.8 ± 11.1 years (range: 0-52 years). Positive family history was present in 53.1% (43/81) of evaluable patients. Consanguineous marriage history was found in 52.4% (43/82) of cases. Among patients with visual acuity data (n = 21), 85.7% had severe vision loss (≤10%), 4.8% had moderate vision loss (11-30%), and 9.5% had mild vision loss (>30%). Genetic testing was performed in 54.3% of patients, with CERKL and USH2A being the most commonly identified genes.

Conclusions: This cohort of 95 Turkish patients with RP shows predominant autosomal recessive inheritance patterns with high rates of consanguineous marriage and positive family history. The majority of patients present with severe vision loss, and symptoms of onset typically occur during childhood and adolescence. These findings highlight the importance of genetic counseling and early diagnosis strategies in populations with high consanguinity rates.

背景:色素性视网膜炎(RP)是一组具有显著遗传异质性的遗传性视网膜营养不良。由于遗传和文化因素,不同人群的患病率和临床特征可能有所不同。目的:分析95例土耳其RP患者的临床特征、人口分布及遗传因素。方法:回顾性分析95例RP患者的资料,采用结构化问卷调查和临床记录。资料包括症状发病年龄、家族史、近亲婚姻史、视力和基因检测结果。结果:患者平均年龄36.0±12.6岁(范围:13 ~ 71岁)。平均发病年龄14.8±11.1岁(范围0 ~ 52岁)。53.1%(43/81)可评估患者存在阳性家族史。有近亲婚姻史的占52.4%(43/82)。在有视力资料的患者(n = 21)中,85.7%为重度视力丧失(≤10%),4.8%为中度视力丧失(11-30%),9.5%为轻度视力丧失(10 -30%)。54.3%的患者进行了基因检测,其中CERKL和USH2A是最常见的基因。结论:95名土耳其RP患者的队列显示出主要的常染色体隐性遗传模式,近亲结婚率高,家族史阳性。大多数患者表现为严重的视力丧失,发病症状通常发生在儿童和青少年时期。这些发现强调了遗传咨询和早期诊断策略在高血缘率人群中的重要性。
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引用次数: 0
Genetic Insights into the Economic Toll of Cell Line Misidentification: A Comprehensive Review. 对细胞系错误鉴定的经济代价的遗传学见解:全面回顾。
IF 4.4 Q1 Medicine Pub Date : 2026-01-05 DOI: 10.3390/medsci14010025
Ralf Weiskirchen

Cell line misidentification, first exposed when HeLa cells were shown to contaminate dozens of "unique" cultures, now compromises roughly one in five lines and renders thousands of papers potentially unreliable, propagating unreliable data through hundreds of thousands of citations. The financial fallout is vast with irreproducible research linked to faulty cell stocks costing the United States an estimated $28 billion each year. Today, authentication is rapid, cheap and highly accurate. Modern 24-plex short tandem repeat (STR) kits, analyzed by six-dye capillary electrophoresis and benchmarked against public databases, verify a culture in half a day for less than €40, lowering the probability of mistaken identity to less than 10-15. Complementary SNP panels, low-pass genome sequencing, digital PCR and nascent methylation "age clocks" close remaining blind spots such as aneuploidy or mixed-species co-cultures. Monte-Carlo modeling shows that even at a contamination risk of 0.07% routine STR testing yields a five-year return on investment above 3000% for a mid-size lab. Reflecting this evidence, ANSI/ATCC standards, NIH and Horizon Europe grants, major journals and FDA/EMA guidelines now encourage, recommend, or make authentication mandatory. This review discusses the historical roots and economic losses resulting from cell misidentification and contamination and offers a pragmatic roadmap to prevent working with falsified cell lines. It is further discussed that FAIR-compliant data archiving and integration of STR workflows into laboratory data management systems will allow laboratories to shift from sporadic testing of cell quality to continuous, artificial intelligence-supported assessments.

当海拉细胞被证明污染了几十种“独特的”培养物时,细胞系鉴定错误首次暴露出来,现在大约有五分之一的细胞系受到了影响,数千篇论文可能不可靠,通过数十万次引用传播不可靠的数据。金融影响是巨大的,与有缺陷的细胞库存有关的不可复制的研究每年给美国造成约280亿美元的损失。如今,认证是快速、廉价和高度准确的。现代24层短串联重复(STR)试剂盒,通过六种染料毛细管电泳分析,并以公共数据库为基准,在半天内验证培养,成本不到40欧元,将错误识别的概率降低到10-15以下。互补SNP面板、低通基因组测序、数字PCR和新生甲基化“年龄时钟”关闭了剩余的盲点,如非整倍体或混合物种共培养。蒙特卡罗模型显示,即使在污染风险为0.07%的情况下,常规STR测试对中型实验室的五年投资回报率也超过3000%。反映这一证据,ANSI/ATCC标准,NIH和Horizon Europe拨款,主要期刊和FDA/EMA指南现在鼓励,推荐或强制认证。这篇综述讨论了细胞错误鉴定和污染造成的历史根源和经济损失,并提供了一个实用的路线图,以防止使用伪造的细胞系。进一步讨论了符合fair标准的数据存档和将STR工作流程集成到实验室数据管理系统中,将允许实验室从零星的细胞质量测试转向连续的、人工智能支持的评估。
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引用次数: 0
From Glucose Transport to Microbial Modulation: The Impact of Sodium Glucose Co-Transporter-2 Inhibitors on the Gut Microbiota. 从葡萄糖转运到微生物调节:葡萄糖共转运蛋白2抑制剂钠对肠道微生物群的影响。
IF 4.4 Q1 Medicine Pub Date : 2026-01-03 DOI: 10.3390/medsci14010022
Mina Y George, Nada K Gamal, Kerolos Safwat, Mohamed Mamdouh, Ahmed AbdElFatah, Abdelrahman Atallah, Claudio Cerchione

Background: Sodium glucose co-transporter-2 (SGLT-2) inhibitors are antihyperglycemic drugs used in type 2 diabetes mellitus management, and they have associated cardiovascular and renal advantages beyond their glucose-lowering effects, with maintained proof linking gut microbiota modulation to their multiple therapeutic benefits. Aim: This review aims to deliver an overview of the current knowledge regarding the relationship between SGLT-2 inhibitors and the gut microbiota and how this interplay impacts the gut-organ axes such as the lung, heart, brain, liver, and hematological system. Methodology: A literature review was performed in Web of Science, PubMed, and Google Scholar to discover studies that assessed the effects of SGLT-2 inhibitors on gut microbiota composition, microbial metabolites, and associated systemic consequences. Results: SGLT-2 inhibitors modulate gut microbiota and its driven metabolites, strengthening the barrier integrity and alleviating endotoxemia, inflammation, and oxidative stress, resulting in beneficial outcomes across the different gut-organ axes. Conclusion: Gut microbiota modulation is an emerging approach in mediating the multifaceted beneficial impacts of SGLT-2 inhibitors, revealing that their effectiveness goes beyond glycemic control. Future research should concentrate on the microbial taxa and metabolites that mediate these impacts and testing combination approaches that target SGLT-2 pathways and gut microbiota to enhance preservation of different organs.

背景:钠葡萄糖共转运蛋白-2 (SGLT-2)抑制剂是用于2型糖尿病治疗的降糖药物,除了降血糖作用外,它们还具有相关的心血管和肾脏益处,有证据表明肠道微生物群调节与它们的多重治疗益处有关。目的:本综述旨在概述目前关于SGLT-2抑制剂与肠道微生物群之间关系的知识,以及这种相互作用如何影响肠道器官轴,如肺、心、脑、肝和血液系统。方法:在Web of Science、PubMed和谷歌Scholar上进行了文献综述,以发现评估SGLT-2抑制剂对肠道微生物群组成、微生物代谢物和相关系统后果影响的研究。结果:SGLT-2抑制剂调节肠道微生物群及其驱动的代谢物,增强屏障完整性,减轻内毒素血症、炎症和氧化应激,从而在不同的肠道器官轴上产生有益的结果。结论:肠道菌群调节是介导SGLT-2抑制剂多方面有益影响的一种新兴方法,表明其有效性不仅仅是血糖控制。未来的研究应集中在介导这些影响的微生物分类群和代谢物上,并测试针对SGLT-2途径和肠道微生物群的联合方法,以增强不同器官的保存。
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引用次数: 0
Computational Stemness and Cancer Stem Cell Markers in Oral Squamous Cell Carcinoma: A Systematic Review, Dual Meta-Analysis, and Functional Meta-Synthesis. 口腔鳞状细胞癌的计算干性和癌症干细胞标志物:系统综述、双重荟萃分析和功能综合。
IF 4.4 Q1 Medicine Pub Date : 2025-12-31 DOI: 10.3390/medsci14010021
Carlos M Ardila, Eliana Pineda-Vélez, Anny M Vivares-Builes

Background/Objectives: Stemness has been proposed as a unifying driver of invasion, treatment resistance, and relapse in oral squamous cell carcinoma (OSCC). We synthesized two complementary evidence streams to determine whether higher stemness predicts poorer survival in OSCC: (i) computational stemness signatures derived from transcriptomic/epigenetic data and (ii) tissue cancer stem cell (CSC) immunophenotypes by immunohistochemistry (IHC). Methods: Following PRISMA 2020, we searched PubMed/MEDLINE, Embase, Scopus, and SciELO. Adults with histologically confirmed OSCC were eligible. Primary outcome was overall survival (OS); disease-specific survival (DSS) and recurrence-free survival (RFS) were secondary. Two parallel meta-analyses pooled effects within domains; random-effects restricted maximum likelihood (REML) models were applied. Results: Of 785 records, 11 studies met criteria. For computational signatures (k = 6), higher stemness was associated with poorer OS (pooled HR 2.24, 95% CI 1.61-3.12; I2 ≈ 49%). Sensitivity excluding the single unadjusted Kaplan-Meier (KM)-derived estimate yielded a similar effect (HR 2.13, 95% CI 1.56-2.89). For CSC-IHC (main analysis, k = 2), CSC-positive profiles predicted worse OS (pooled HR 2.01, 95% CI 1.42-2.84; I2 ≈ 0%); results were robust to excluding an internally inconsistent study (single-study HR 2.078). An exploratory sensitivity analysis, including a 1-year HR (different time horizon), increased heterogeneity and was not considered definitive. A functional meta-synthesis converged on epithelial-mesenchymal transition/extracellular matrix remodeling, hypoxia/glycolysis, redox/ferroptosis resistance, and ribosome/rRNA biogenesis, supporting biological plausibility across modalities. Conclusions: Across computational and IHC evidence, stemness consistently portends inferior OS in OSCC, offering a biologically anchored framework for risk stratification and testable therapeutic hypotheses.

背景/目的:干燥性被认为是口腔鳞状细胞癌(OSCC)侵袭、治疗抵抗和复发的统一驱动因素。我们合成了两个互补的证据流来确定高干性是否预示着OSCC的较差生存率:(i)来自转录组学/表观遗传学数据的计算干性特征和(ii)通过免疫组织化学(IHC)的组织癌干细胞(CSC)免疫表型。方法:遵循PRISMA 2020,检索PubMed/MEDLINE、Embase、Scopus和SciELO。组织学证实的OSCC成人入选。主要终点是总生存期(OS);疾病特异性生存(DSS)和无复发生存(RFS)是次要的。两个平行的荟萃分析汇集了领域内的效应;采用随机效应限制最大似然(REML)模型。结果:785项记录中,11项研究符合标准。对于计算特征(k = 6),较高的干性与较差的OS相关(合并HR 2.24, 95% CI 1.61-3.12; I2≈49%)。排除单一未经校正的Kaplan-Meier (KM)估计的敏感性产生了类似的效果(HR 2.13, 95% CI 1.56-2.89)。对于CSC-IHC(主要分析,k = 2), csc阳性谱预测较差的OS(合并HR 2.01, 95% CI 1.42-2.84; I2≈0%);结果排除了一项内部不一致的研究(单研究HR 2.078)。探索性敏感性分析,包括1年HR(不同时间范围),异质性增加,不被认为是决定性的。一种功能性综合融合了上皮-间质转化/细胞外基质重塑、缺氧/糖酵解、氧化还原/铁凋亡抵抗和核糖体/rRNA生物发生,支持了多种模式的生物学合理性。结论:在计算和免疫组织结构的证据中,干性始终预示着OSCC的低OS,为风险分层和可测试的治疗假设提供了生物学锚定的框架。
{"title":"Computational Stemness and Cancer Stem Cell Markers in Oral Squamous Cell Carcinoma: A Systematic Review, Dual Meta-Analysis, and Functional Meta-Synthesis.","authors":"Carlos M Ardila, Eliana Pineda-Vélez, Anny M Vivares-Builes","doi":"10.3390/medsci14010021","DOIUrl":"10.3390/medsci14010021","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Stemness has been proposed as a unifying driver of invasion, treatment resistance, and relapse in oral squamous cell carcinoma (OSCC). We synthesized two complementary evidence streams to determine whether higher stemness predicts poorer survival in OSCC: (i) computational stemness signatures derived from transcriptomic/epigenetic data and (ii) tissue cancer stem cell (CSC) immunophenotypes by immunohistochemistry (IHC). <b>Methods:</b> Following PRISMA 2020, we searched PubMed/MEDLINE, Embase, Scopus, and SciELO. Adults with histologically confirmed OSCC were eligible. Primary outcome was overall survival (OS); disease-specific survival (DSS) and recurrence-free survival (RFS) were secondary. Two parallel meta-analyses pooled effects within domains; random-effects restricted maximum likelihood (REML) models were applied. <b>Results:</b> Of 785 records, 11 studies met criteria. For computational signatures (k = 6), higher stemness was associated with poorer OS (pooled HR 2.24, 95% CI 1.61-3.12; I<sup>2</sup> ≈ 49%). Sensitivity excluding the single unadjusted Kaplan-Meier (KM)-derived estimate yielded a similar effect (HR 2.13, 95% CI 1.56-2.89). For CSC-IHC (main analysis, k = 2), CSC-positive profiles predicted worse OS (pooled HR 2.01, 95% CI 1.42-2.84; I<sup>2</sup> ≈ 0%); results were robust to excluding an internally inconsistent study (single-study HR 2.078). An exploratory sensitivity analysis, including a 1-year HR (different time horizon), increased heterogeneity and was not considered definitive. A functional meta-synthesis converged on epithelial-mesenchymal transition/extracellular matrix remodeling, hypoxia/glycolysis, redox/ferroptosis resistance, and ribosome/rRNA biogenesis, supporting biological plausibility across modalities. <b>Conclusions:</b> Across computational and IHC evidence, stemness consistently portends inferior OS in OSCC, offering a biologically anchored framework for risk stratification and testable therapeutic hypotheses.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146013581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A 24-Year Analysis of Percutaneous Renal Biopsy Trends in Australia. 澳大利亚24年经皮肾活检趋势分析。
IF 4.4 Q1 Medicine Pub Date : 2025-12-31 DOI: 10.3390/medsci14010019
Kieran Sandhu, Abdullah Al-Khanaty, Jonathon Carll, Declan G Murphy, Nathan Lawrentschuk, Marlon Perera

Background: Small renal masses (SRMs) are increasingly prevalent. Percutaneous renal biopsy (PRB) is usually reserved for diagnosis of benign renal disease or secondary metastatic disease. SRMs are frequently benign or of low malignant potential. Invasive treatment may result in significant morbidity. Current literature supports the use of PRB in diagnostic assessment of SRMs. We aim to assess the rates of PRB in Australia since its introduction in the Medicare Benefits Scheme (MBS).

Methods: Data regarding PRBs for the period between January 2000 and December 2024 were extracted from the MBS. Paediatric patients aged <15 years were excluded. Population-adjusted incidences were calculated using publicly available demographic data.

Results: A total of 31,870 PRBs were performed between 2000 and 2024, with an average year-on-year increase of 0.24 PRBs per 100,000 persons per year (95% CI: 0.21-0.27) and an absolute increase of 4.9 PRBs per 100,000 persons. Males had higher PRB rates than females (mean difference: 2.73 per 100,000/year). The largest rise was in NSW, increasing by 13.6 per 100,000, with similar increases in VIC and QLD (4.9 and 2.8 per 100,000, respectively). SA, TAS, and ACT experienced significant reductions (5.7, 3.5, and 6.0 per 100,000, respectively). There was significant inter-state heterogeneity (p < 0.001). PRB rates were highest among the 55-74 and ≥75 age groups. The PRB:nephrectomy ratio increased significantly (0.02/year; 95% CI: 0.016-0.024).

Conclusions: The consensus supporting PRBs for SRMs is reflected in Australia. However, there remains significant heterogeneity between demographic groups. Further work is necessary to ensure standard-of-care treatment accessibility to prevent overtreatment.

背景:小肾肿块(SRMs)越来越普遍。经皮肾活检(PRB)通常用于诊断良性肾脏疾病或继发性转移性疾病。srm通常为良性或低恶性潜能。侵入性治疗可能导致显著的发病率。目前的文献支持在srm的诊断评估中使用PRB。我们的目标是评估自引入医疗保险福利计划(MBS)以来澳大利亚的PRB率。方法:从MBS中提取2000年1月至2024年12月期间的PRBs数据。结果:2000年至2024年共实施PRBs 31870例,平均每年每10万人增加0.24例(95% CI: 0.21-0.27),绝对增加4.9例/ 10万人。男性的PRB率高于女性(平均差异:2.73 / 10万/年)。涨幅最大的是新南威尔士州,每10万人增加13.6人,维州和昆州也有类似的涨幅(分别为每10万人增加4.9人和2.8人)。SA、TAS和ACT均显著降低(分别为5.7、3.5和6.0 / 100,000)。州间存在显著异质性(p < 0.001)。PRB发病率在55 ~ 74岁和≥75岁年龄组中最高。PRB:肾切除术比率显著增加(0.02/年;95% CI: 0.016-0.024)。结论:支持PRBs用于srm的共识在澳大利亚得到了体现。然而,人口统计群体之间仍然存在显著的异质性。有必要进一步开展工作,确保获得标准护理治疗,以防止过度治疗。
{"title":"A 24-Year Analysis of Percutaneous Renal Biopsy Trends in Australia.","authors":"Kieran Sandhu, Abdullah Al-Khanaty, Jonathon Carll, Declan G Murphy, Nathan Lawrentschuk, Marlon Perera","doi":"10.3390/medsci14010019","DOIUrl":"10.3390/medsci14010019","url":null,"abstract":"<p><strong>Background: </strong>Small renal masses (SRMs) are increasingly prevalent. Percutaneous renal biopsy (PRB) is usually reserved for diagnosis of benign renal disease or secondary metastatic disease. SRMs are frequently benign or of low malignant potential. Invasive treatment may result in significant morbidity. Current literature supports the use of PRB in diagnostic assessment of SRMs. We aim to assess the rates of PRB in Australia since its introduction in the Medicare Benefits Scheme (MBS).</p><p><strong>Methods: </strong>Data regarding PRBs for the period between January 2000 and December 2024 were extracted from the MBS. Paediatric patients aged <15 years were excluded. Population-adjusted incidences were calculated using publicly available demographic data.</p><p><strong>Results: </strong>A total of 31,870 PRBs were performed between 2000 and 2024, with an average year-on-year increase of 0.24 PRBs per 100,000 persons per year (95% CI: 0.21-0.27) and an absolute increase of 4.9 PRBs per 100,000 persons. Males had higher PRB rates than females (mean difference: 2.73 per 100,000/year). The largest rise was in NSW, increasing by 13.6 per 100,000, with similar increases in VIC and QLD (4.9 and 2.8 per 100,000, respectively). SA, TAS, and ACT experienced significant reductions (5.7, 3.5, and 6.0 per 100,000, respectively). There was significant inter-state heterogeneity (<i>p</i> < 0.001). PRB rates were highest among the 55-74 and ≥75 age groups. The PRB:nephrectomy ratio increased significantly (0.02/year; 95% CI: 0.016-0.024).</p><p><strong>Conclusions: </strong>The consensus supporting PRBs for SRMs is reflected in Australia. However, there remains significant heterogeneity between demographic groups. Further work is necessary to ensure standard-of-care treatment accessibility to prevent overtreatment.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146013612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Medical sciences (Basel, Switzerland)
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