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Connections Between Prefrontal Cortex Anatomy and Autism Spectrum Disorder: A Literature Review. 前额皮质解剖与自闭症谱系障碍之间的联系:文献综述。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.492
Efthalia Tzila, Eleni Panagouli, Maria Tsouka, Amir Shihada, Dionysios Venieratos, Dimosthenis Chrysikos, Theodore Troupis

Objective: This review examines the existing literature on the structural and functional changes in the anatomy of the prefrontal cortex (PFC) associated with autism spectrum disorder (ASD), focusing on the roles of molecular signaling disruptions and trace element imbalances.

Methods: A literature review was performed through a structured search of academic publications from 2010 to 2025.

Discussion: Anatomic variations and structural and functional abnormalities within the PFC, including disruptions in neural connectivity, synaptic plasticity, and neurochemical balance, significantly contribute to the cognitive, social, and emotional deficits observed in ASD. The interplay between brain-derived neurotrophic factor dysregulation, oxidative stress, and trace element imbalances further exacerbates these dysfunctions.

Conclusion: According to our findings, the anatomy of the PFC appears to play a crucial role in the pathophysiology of ASD, given its involvement in executive function, emotional processing, and social cognition, suggesting a multifactorial pathophysiology that demands a multidimensional research approach.

目的:综述了自闭症谱系障碍(ASD)患者前额叶皮质(PFC)结构和功能变化的相关文献,重点讨论了分子信号干扰和微量元素失衡在其中的作用。方法:通过结构化检索2010 - 2025年的学术出版物进行文献综述。讨论:PFC的解剖变异、结构和功能异常,包括神经连通性、突触可塑性和神经化学平衡的破坏,是ASD中观察到的认知、社交和情感缺陷的重要原因。脑源性神经营养因子失调、氧化应激和微量元素失衡之间的相互作用进一步加剧了这些功能障碍。结论:根据我们的研究结果,PFC的解剖结构似乎在ASD的病理生理中起着至关重要的作用,因为它涉及执行功能,情绪处理和社会认知,这表明一个多因素的病理生理需要多维的研究方法。
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引用次数: 0
B2 Thymoma with Intracardiac Extension Presenting as Superior Vena Cava Syndrome: Case Report and Literature Review. B2胸腺瘤伴心内扩张表现为上腔静脉综合征:1例报告及文献复习。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.491
Almedina Muhić, Šefika Umihanić, Hasan Osmić, Elma Mujaković, Faruk Šadić, Amila Kovčić Harčinović, Agan Muhić

Objective: This article aims to emphasize the importance of considering invasive thymoma in the differential diagnosis of mediastinal masses and highlights the critical role of timely surgical and oncological management in improving patient outcomes.

Case report: We present the case of a 70-year-old woman who presented with signs of superior vena cava syndrome, including dyspnea, facial swelling, and fatigue. Advanced imaging and intraoperative findings revealed a large anterior mediastinal mass infiltrating the left brachiocephalic vein and superior vena cava, extending into both the right atrium and right ventricle. Surgical intervention was performed, and histopathological analysis confirmed B2 thymoma with a high Ki-67 proliferation index. Despite surgical intervention, the patient's condition deteriorated, and she ultimately succumbed to the disease.

Conclusion: To the best of our knowledge, this is the first reported Bosnian case of B2 thymoma invading the brachiocephalic vein and superior vena cava and infiltrating both the right atrium and ventricle, causing superior vena cava syndrome. Despite their rarity, thymomas should always be considered in patients presenting with an enlarged mediastinum.

目的:本文旨在强调在纵隔肿块鉴别诊断中考虑浸润性胸腺瘤的重要性,并强调及时的手术和肿瘤治疗对改善患者预后的关键作用。病例报告:我们报告一位70岁的女性,她表现出上腔静脉综合征的症状,包括呼吸困难,面部肿胀和疲劳。先进的影像和术中发现一个大的前纵隔肿块浸润左头臂静脉和上腔静脉,延伸到右心房和右心室。手术治疗,组织病理学分析证实B2胸腺瘤,Ki-67增殖指数高。尽管手术干预,病人的病情恶化,她最终死于疾病。结论:据我们所知,这是波斯尼亚报道的首例B2胸腺瘤侵犯头臂静脉和上腔静脉,同时浸润右心房和右心室,引起上腔静脉综合征的病例。尽管胸腺瘤很少见,但在出现纵隔肿大的患者中,胸腺瘤仍应被考虑。
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引用次数: 0
How Histoplasma Evades the Human Immune System. 组织浆体如何逃避人体免疫系统。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.494
Albert Jefferson Kurniawan, Jolene Eleora Mok, Anathapindika Putra, Sem Samuel Surja

This review summarises the current knowledge of the interactions between Histoplasma capsulatum (Hc) and the human immune system, with particular emphasis on host immune responses and fungal immune evasion mechanisms that modulate disease pathogenesis and clinical outcomes. Histoplasmosis is a disease caused by Hc, a fungus found worldwide. Upon inhalation, complex interactions occur between the pathogen and the human immune system, primarily involving the recognition of fungal cell wall components. Both innate and adaptive immune responses are orchestrated to eliminate the fungus through a tightly regulated balance. However, Hc has evolved multiple strategies to evade host defences and establish infection. The clinical spectrum of histoplasmosis varies, ranging from isolated pulmonary involvement to disseminated disease, depending on host factors and pathogen characteristics. CONCLUSION: Overall, host-pathogen interactions between Hc and the human immune system play a central role in determining disease outcomes and represent key targets for improving preventive, diagnostic, and treatment strategies.

本文综述了目前关于荚膜组织浆体(Hc)与人体免疫系统相互作用的知识,特别强调了宿主免疫反应和真菌免疫逃避机制,这些机制调节了疾病的发病机制和临床结果。组织胞浆菌病是一种由Hc引起的疾病,Hc是一种世界范围内发现的真菌。吸入后,病原体和人体免疫系统之间发生复杂的相互作用,主要涉及真菌细胞壁成分的识别。先天和适应性免疫反应都是通过严格调节的平衡来消除真菌的。然而,Hc已经进化出多种策略来逃避宿主防御并建立感染。组织浆菌病的临床谱各不相同,从孤立的肺部累及到弥散性疾病,取决于宿主因素和病原体特征。结论:总的来说,Hc与人体免疫系统之间的宿主-病原体相互作用在决定疾病结局中起着核心作用,并且是改进预防、诊断和治疗策略的关键目标。
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引用次数: 0
PhD Theses Defended in Croatia (1992-2023): A Retrospective Analysis of Trends, Institutional Contributions, and Data Collection Challenges. 克罗地亚博士论文答辩(1992-2023):趋势、机构贡献和数据收集挑战的回顾性分析。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.488
Livia Puljak, Damir Sapunar

Objective: This study analyzed PhD theses defended in Croatia between 1992 and 2023, with the aim of examining national trends, institutional contributions, disciplinary patterns, and data-related challenges.

Methods: This retrospective time-trend study utilized the administrative data obtained from the Croatian Bureau of Statistics. Data on the number of defended PhD theses were collected by year, university, and school/department. Linear regression models were applied to assess temporal trends at both the national and institutional levels.

Results: A total of 17,578 PhD theses were defended in Croatia between 1992 and 2023. The national output increased substantially, reaching a peak of 1,338 theses in 2012, followed by a subsequent decline and a gradual recovery. The University of Zagreb accounted for 74.8% of all defended theses, followed by the Universities of Osijek, Rijeka, and Split. Across institutions, the medical, economic, and engineering faculties were the most productive. Linear regression analyses demonstrated statistically significant upward trends at both the national level and across all major public universities. Collectively, medical schools produced 18% of all theses, with newer institutions, particularly those in Split and Osijek, exhibiting later but consistent growth. However, notable data inconsistencies were observed, including non-standardized institutional nomenclature, variable data granularity, and discrepancies among official reports.

Conclusion: Croatia's PhD output expanded markedly after 2000, reflecting the maturation and expansion of its higher education system. Regional universities and medical schools substantially increased their contributions, indicating national academic growth. Sustained institutional support will be essential to sustain progress and foster disciplinary development.

目的:本研究分析了1992年至2023年间克罗地亚的博士论文,目的是研究国家趋势、机构贡献、学科模式和数据相关挑战。方法:本回顾性时间趋势研究利用克罗地亚统计局获得的行政数据。博士论文答辩数按年份、大学、学院/系进行统计。线性回归模型用于评估国家和机构两级的时间趋势。结果:1992年至2023年间,克罗地亚共有17578篇博士论文被辩护。全国论文产量大幅增长,2012年达到1338篇的峰值,随后下降,逐渐恢复。萨格勒布大学占所有答辩论文的74.8%,其次是奥西耶克大学、里耶卡大学和斯普利特大学。在所有院校中,医学、经济和工程学院的生产力最高。线性回归分析表明,在全国和所有主要公立大学中,统计上都有显著的上升趋势。总的来说,医学院产生了所有论文的18%,其中较新的机构,特别是在斯普利特和奥西耶克,表现出较晚但持续的增长。然而,观察到明显的数据不一致,包括非标准化的机构命名、可变的数据粒度和官方报告之间的差异。结论:2000年后克罗地亚的博士产出显著增长,反映了其高等教育体系的成熟和扩展。地区大学和医学院的贡献大幅增加,表明全国学术增长。持续的机构支持对于保持进步和促进学科发展至关重要。
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引用次数: 0
Ansa Pancreatica: Clinical Significance in Recurrent Acute Pancreatitis. 胰腺Ansa:复发性急性胰腺炎的临床意义。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.490
Athanasios Sakellariadis, Amir Shihada, Alexandros Samolis, Nikoleta Sinou, Dimitrios Filippou

Objective: This study aimed to conduct a thorough literature review regarding the ansa pancreatica as a potential risk factor for recurrent acute pancreatitis, exploring its pathophysiological mechanisms and possible complications during the surgical management of pancreatic conditions.

Methods: A comprehensive search was performed in the PubMed and Scopus databases using the keyword 'Ansa Pancreatica', yielding a total of 80 articles (PubMed: 34, Scopus: 46, with 52 unique articles). After applying strict inclusion and exclusion criteria, unrelated and duplicate articles were removed, resulting in the selection of 38 relevant studies.

Results: Ansa pancreatica was found to be a statistically significant independent risk factor for recurrent acute pancreatitis in the majority of the literature reviewed. The suggested pathophysiological mechanism involves anatomical obstruction and subsequent pre-activation of the pancreatic enzymes, causing an inflammatory cascade. Diagnosis can be established using Endoscopic Retrograde Cholangiopancreatography, Magnetic Resonance Cholangiopancreatography, or Endoscopic Ultrasonography, while treatment options are either conservative or surgical, with the invasive procedures being associated with a significant risk of complications. Furthermore, some studies have indicated a correlation between ansa pancreatica and intraductal mucinous neoplasms.

Conclusion: The findings clearly show that Ansa Pancreatica is a rare anatomical variant with significant clinical and surgical implications, underscoring the necessity for clinicians to be aware of it to mitigate complications and effectively manage pancreatic diseases.

目的:本研究旨在对胰腺ansa作为复发性急性胰腺炎的潜在危险因素进行全面的文献综述,探讨其病理生理机制及胰腺疾病手术治疗中可能出现的并发症。方法:使用关键词“Ansa Pancreatica”在PubMed和Scopus数据库中进行全面检索,共获得80篇文章(PubMed: 34, Scopus: 46,其中52篇是唯一的文章)。在应用严格的纳入和排除标准后,剔除不相关和重复的文章,最终筛选出38篇相关研究。结果:在回顾的大多数文献中,发现胰腺Ansa是复发性急性胰腺炎的具有统计学意义的独立危险因素。提出的病理生理机制包括解剖阻塞和随后胰腺酶的预激活,引起炎症级联反应。诊断可通过内窥镜逆行胆管造影、磁共振胆管造影或内窥镜超声检查确定,而治疗选择为保守或手术,侵入性手术与并发症的显著风险相关。此外,一些研究表明胰腺旁腺病与导管内黏液性肿瘤之间存在相关性。结论:研究结果清楚地表明,Ansa胰腺是一种罕见的解剖变异,具有重要的临床和外科意义,强调临床医生有必要认识到它,以减轻并发症和有效地治疗胰腺疾病。
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引用次数: 0
Pediatric Spitzoid Melanoma: A Case Report. 儿童Spitzoid Melanoma: 1例报告。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.482
Jelena Roganović, Mia Radošević, Andrea Dekanić

Objective: To highlight the diagnostic and therapeutic challenges of Spitzoid melanoma in childhood, with a focus on its potential genetic predisposition.

Case report: A 7-year-old female patient presented with a growing nodular lesion on her upper leg. Excision was performed, and histopathological analysis confirmed a diagnosis of Spitzoid melanoma, classified as pT2a. Following a multidisciplinary review, wide local re-excision and sentinel lymph node biopsy (SLNB) were recommended. No residual tumor was found, and the SLNB was negative. A comprehensive diagnostic evaluation ruled out systemic disease, and no additional treatment was required. Germline genetic testing identified a pathogenic CHEK2 variant (c.444+1G>A), prompting recommendations for genetic counseling and close follow-up.

Conclusion: This case report contributes to the limited body of knowledge on pediatric Spitzoid melanomas and underscores the importance of genetic insights in guiding both diagnostic and treatment decisions. The detection of a CHEK2 mutation underscores the importance of genetic profiling in family counseling.

目的:强调儿童Spitzoid黑色素瘤的诊断和治疗挑战,重点是其潜在的遗传易感性。病例报告:一个7岁的女性患者提出了一个日益增长的结节性病变在她的上肢。手术切除,组织病理学分析确诊为Spitzoid melanoma,分类为pT2a。经过多学科的回顾,推荐广泛的局部再切除和前哨淋巴结活检(SLNB)。未见肿瘤残留,SLNB阴性。全面的诊断评估排除了全身性疾病,不需要额外的治疗。种系基因检测鉴定出一种致病性CHEK2变异(c.444+1G> a),提示进行遗传咨询和密切随访的建议。结论:本病例报告对儿童Spitzoid melanoma的有限知识体系做出了贡献,并强调了遗传见解在指导诊断和治疗决策中的重要性。CHEK2突变的检测强调了基因分析在家庭咨询中的重要性。
{"title":"Pediatric Spitzoid Melanoma: A Case Report.","authors":"Jelena Roganović, Mia Radošević, Andrea Dekanić","doi":"10.5644/ama2006-124.482","DOIUrl":"10.5644/ama2006-124.482","url":null,"abstract":"<p><strong>Objective: </strong>To highlight the diagnostic and therapeutic challenges of Spitzoid melanoma in childhood, with a focus on its potential genetic predisposition.</p><p><strong>Case report: </strong>A 7-year-old female patient presented with a growing nodular lesion on her upper leg. Excision was performed, and histopathological analysis confirmed a diagnosis of Spitzoid melanoma, classified as pT2a. Following a multidisciplinary review, wide local re-excision and sentinel lymph node biopsy (SLNB) were recommended. No residual tumor was found, and the SLNB was negative. A comprehensive diagnostic evaluation ruled out systemic disease, and no additional treatment was required. Germline genetic testing identified a pathogenic CHEK2 variant (c.444+1G>A), prompting recommendations for genetic counseling and close follow-up.</p><p><strong>Conclusion: </strong>This case report contributes to the limited body of knowledge on pediatric Spitzoid melanomas and underscores the importance of genetic insights in guiding both diagnostic and treatment decisions. The detection of a CHEK2 mutation underscores the importance of genetic profiling in family counseling.</p>","PeriodicalId":38313,"journal":{"name":"Acta medica academica","volume":" ","pages":"250-254"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145565853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Breaking the Cycle: A Case-Control Study on Social and Familial Influences in Childhood Obesity. 打破循环:儿童肥胖的社会和家庭影响的病例对照研究。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.489
Tiago Santos Trindade, Helena Neta Duarte, Tiago Marçal Brito, Joana Vanessa Silva, Benedita Bianchi Aguiar, Miguel Costa

Objective: Childhood obesity is a growing public health concern influenced by social and familial determinants. This study examines the associations between caregiver education, family structure, social risk factors, and familial obesity with childhood obesity in a Portuguese pediatric population to inform targeted interventions.

Materials and methods: A retrospective case-control study was conducted at a Portuguese secondary hospital, including 78 children with obesity and 326 controls. Controls were selected using a time-matched, hospital-based approach from the same ward and calendar years as the cases. Socioeconomic data were extracted from the hospital records. Social risk was defined based on documented indicators of socioeconomic vulnerability, such as financial hardship, suspicion of neglect, and housing instability, identified through multidisciplinary records. Logistic regression models were used to assess the risk of obesity while adjusting for age and sex.

Resulst: Caregiver education and familial obesity were the strongest predictors of childhood obesity. Children whose caregivers had not completed compulsory education had a significantly higher risk of obesity, whereas familial obesity showed an even stronger association. Social risk factors were linked to obesity in univariate analyses but lost significance in adjusted models. An exploratory interaction between caregiver education and social risk suggested higher odds when both disadvantages co-occurred. Family structure did not independently predict obesity.

Conclusion: This study highlights the need for targeted public health interventions addressing caregiver education, economic support for at-risk families, and family-wide lifestyle changes. A multi-sectoral approach integrating healthcare, education, and community programs is crucial for reducing childhood obesity and promoting long-term health equity.

目的:儿童肥胖是一个日益严重的公共卫生问题,受到社会和家庭决定因素的影响。本研究探讨了葡萄牙儿科人群中照顾者教育、家庭结构、社会风险因素和家族性肥胖与儿童肥胖之间的关系,以告知有针对性的干预措施。材料和方法:在葡萄牙一家二级医院进行回顾性病例对照研究,包括78名肥胖儿童和326名对照。对照采用时间匹配的基于医院的方法,从与病例相同的病房和日历年中选择。从医院记录中提取社会经济数据。社会风险是根据社会经济脆弱性的记录指标来定义的,如经济困难、被忽视的嫌疑和住房不稳定,这些指标是通过多学科记录确定的。在调整年龄和性别后,使用逻辑回归模型评估肥胖风险。结果:照顾者教育和家庭肥胖是儿童肥胖的最强预测因子。照顾者未完成义务教育的儿童患肥胖的风险明显更高,而家族性肥胖的关联甚至更强。在单变量分析中,社会风险因素与肥胖有关,但在调整后的模型中失去了意义。一个探索性的相互作用之间的护理教育和社会风险表明,当两种不利因素同时发生时,更高的可能性。家庭结构并不能独立预测肥胖。结论:本研究强调了有针对性的公共卫生干预措施的必要性,包括照顾者教育、对高危家庭的经济支持以及整个家庭生活方式的改变。综合医疗保健、教育和社区项目的多部门方法对于减少儿童肥胖和促进长期健康公平至关重要。
{"title":"Breaking the Cycle: A Case-Control Study on Social and Familial Influences in Childhood Obesity.","authors":"Tiago Santos Trindade, Helena Neta Duarte, Tiago Marçal Brito, Joana Vanessa Silva, Benedita Bianchi Aguiar, Miguel Costa","doi":"10.5644/ama2006-124.489","DOIUrl":"10.5644/ama2006-124.489","url":null,"abstract":"<p><strong>Objective: </strong>Childhood obesity is a growing public health concern influenced by social and familial determinants. This study examines the associations between caregiver education, family structure, social risk factors, and familial obesity with childhood obesity in a Portuguese pediatric population to inform targeted interventions.</p><p><strong>Materials and methods: </strong>A retrospective case-control study was conducted at a Portuguese secondary hospital, including 78 children with obesity and 326 controls. Controls were selected using a time-matched, hospital-based approach from the same ward and calendar years as the cases. Socioeconomic data were extracted from the hospital records. Social risk was defined based on documented indicators of socioeconomic vulnerability, such as financial hardship, suspicion of neglect, and housing instability, identified through multidisciplinary records. Logistic regression models were used to assess the risk of obesity while adjusting for age and sex.</p><p><strong>Resulst: </strong>Caregiver education and familial obesity were the strongest predictors of childhood obesity. Children whose caregivers had not completed compulsory education had a significantly higher risk of obesity, whereas familial obesity showed an even stronger association. Social risk factors were linked to obesity in univariate analyses but lost significance in adjusted models. An exploratory interaction between caregiver education and social risk suggested higher odds when both disadvantages co-occurred. Family structure did not independently predict obesity.</p><p><strong>Conclusion: </strong>This study highlights the need for targeted public health interventions addressing caregiver education, economic support for at-risk families, and family-wide lifestyle changes. A multi-sectoral approach integrating healthcare, education, and community programs is crucial for reducing childhood obesity and promoting long-term health equity.</p>","PeriodicalId":38313,"journal":{"name":"Acta medica academica","volume":" ","pages":"195-204"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145764003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetics of IgA Vasculitis: What We Know and Where We Are Going. IgA血管炎的遗传学:我们知道什么和我们要去哪里。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.478
Jelena Roganović, Ante Vidović

Immunoglobulin A (IgA) vasculitis (IgAV) is the most prevalent systemic vasculitis in children. Although the condition is typically self-limiting with spontaneous recovery within a few weeks, both acute and long-term complications can arise, with renal involvement being the most significant. In recent years, considerable attention has been directed toward unraveling the genetic basis of IgAV. Studies have identified associations between disease susceptibility and specific human leukocyte antigen (HLA) polymorphisms. In addition, variants in genes encoding cytokines, chemokines, and other biologically important proteins - particularly those involved in the abnormal glycosylation of IgA1 - have been linked to both increased risk of developing IgAV and more severe disease manifestations. Notably, polymorphisms in the interleukin-1 receptor antagonist (IL1RN) and IL8 genes have been correlated with an increased risk of glomerular injury. Other gene polymorphisms have also been associated with specific clinical phenotypes, such as HMGB1 and RAGE, whereas polymorphisms in genes involved in mucosal immune defense have not demonstrated any significant correlations to date. Ongoing research is essential to clarify these findings further and determine their implications for clinical practice.

免疫球蛋白A (IgA)血管炎(IgAV)是儿童最常见的系统性血管炎。虽然这种情况通常是自限性的,在几周内自然恢复,但急性和长期并发症都可能出现,肾脏受累是最重要的。近年来,人们对IgAV的遗传基础进行了大量的研究。研究已经确定了疾病易感性和特异性人类白细胞抗原(HLA)多态性之间的关联。此外,编码细胞因子、趋化因子和其他重要的生物学蛋白的基因变异——特别是那些参与IgA1异常糖基化的基因变异——与IgAV发病风险增加和更严重的疾病表现有关。值得注意的是,白细胞介素-1受体拮抗剂(IL1RN)和IL8基因的多态性与肾小球损伤的风险增加有关。其他基因多态性也与特定的临床表型相关,如HMGB1和RAGE,而参与粘膜免疫防御的基因多态性迄今尚未显示出任何显著相关性。正在进行的研究对于进一步澄清这些发现并确定其对临床实践的影响至关重要。
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引用次数: 0
Glycogen-Rich Clear Cell Carcinoma of the Breast: Report of Two New Cases and an Updated Literature Review. 乳腺富糖原透明细胞癌:两例新病例报告及最新文献综述。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.487
Jasmina Redzepagic, Faruk Skenderi, Nermina Ibisevic, Semir Beslija, Timur Ceric, Zoran Gatalica, Semir Vranic

Objective: To report two additional cases of glycogen-rich clear cell carcinoma (GRCC) of the breast - detailing their clinicopathologic features, immunophenotypes, and follow-up - and to provide an updated literature review since 2020.

Case reports: Two patients (66 and 52 years old) had GRCC confirmed morphologically and histochemically. Case 1 was ER-positive/HER2- positive (luminal B/HER2-positive) and was managed with surgery, followed by adjuvant chemotherapy, endocrine therapy, and anti-HER2 therapy (trastuzumab). Case 2 was triple-negative and received neoadjuvant chemoimmunotherapy (pembrolizumab- based) with marked pathologic tumor regression at resection. Both patients were disease-free at one and 12 months, respectively.

Conclusions: GRCC is heterogeneous and should not be regarded as a single clinicopathologic entity within invasive breast carcinoma of no special type or assumed to have a uniform prognosis. Management should be biomarker-guided, as illustrated by these cases. The role of targeted and immune therapies in GRCC warrants multi-institutional studies.

目的:报告另外两例乳腺富糖透明细胞癌(GRCC),详细介绍其临床病理特征、免疫表型和随访,并提供自2020年以来的最新文献综述。病例报告:2例患者(66岁和52岁)经形态学和组织化学证实为GRCC。病例1为er阳性/HER2阳性(luminal B/HER2阳性),手术治疗,随后进行辅助化疗、内分泌治疗和抗HER2治疗(曲妥珠单抗)。病例2为三阴性,接受了新辅助化疗免疫治疗(以派姆单抗为基础),术后肿瘤病理消退明显。两名患者分别在1个月和12个月无病。结论:GRCC具有异质性,不应将其视为无特殊类型浸润性乳腺癌中的单一临床病理实体,也不应认为其预后统一。正如这些案例所说明的那样,管理应该以生物标志物为指导。靶向治疗和免疫治疗在GRCC中的作用需要多机构研究。
{"title":"Glycogen-Rich Clear Cell Carcinoma of the Breast: Report of Two New Cases and an Updated Literature Review.","authors":"Jasmina Redzepagic, Faruk Skenderi, Nermina Ibisevic, Semir Beslija, Timur Ceric, Zoran Gatalica, Semir Vranic","doi":"10.5644/ama2006-124.487","DOIUrl":"10.5644/ama2006-124.487","url":null,"abstract":"<p><strong>Objective: </strong>To report two additional cases of glycogen-rich clear cell carcinoma (GRCC) of the breast - detailing their clinicopathologic features, immunophenotypes, and follow-up - and to provide an updated literature review since 2020.</p><p><strong>Case reports: </strong>Two patients (66 and 52 years old) had GRCC confirmed morphologically and histochemically. Case 1 was ER-positive/HER2- positive (luminal B/HER2-positive) and was managed with surgery, followed by adjuvant chemotherapy, endocrine therapy, and anti-HER2 therapy (trastuzumab). Case 2 was triple-negative and received neoadjuvant chemoimmunotherapy (pembrolizumab- based) with marked pathologic tumor regression at resection. Both patients were disease-free at one and 12 months, respectively.</p><p><strong>Conclusions: </strong>GRCC is heterogeneous and should not be regarded as a single clinicopathologic entity within invasive breast carcinoma of no special type or assumed to have a uniform prognosis. Management should be biomarker-guided, as illustrated by these cases. The role of targeted and immune therapies in GRCC warrants multi-institutional studies.</p>","PeriodicalId":38313,"journal":{"name":"Acta medica academica","volume":" ","pages":"242-249"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145565796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early Detection of Inferolateral Ischemia Using a Smartphone-Based ECG Device: A Case of Triple-Vessel Disease Confirmed by Coronary Angiography. 使用基于智能手机的ECG设备早期检测外外侧缺血:一例冠状动脉造影证实的三支血管疾病。
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.5644/ama2006-124.493
Chandra Mohan, Kunal Gururani, Anurag Rawat, Yogendra Singh, Nitin Chandola, Deeksha Agarwal, Sengar Yashwardhan Pratap Singh, Milan Prabhakar

Objective: This case report describes the capability of a smartphone-based electrocardiogram (ECG) in detecting multivessel coronary artery disease (CAD), with initial findings suggestive of double-vessel involvement, which was later confirmed as triple-vessel disease (TVD) by coronary angiography.

Case report: In this case report, we describe a 51-year-old woman with a known medical history of CAD, hypertension, TVD, and a prior episode of acute coronary syndrome who presented to Swami Rama Himalayan University, Dehradun, with complaints of chest pain. She had previously undergone percutaneous coronary intervention with stent placement. Conventional 12-lead ECG (Philips PageWriter ECG) indicated myocardial ischemia. Follow-up smartphone-based ECG (Spandan Pro) revealed inferolateral ischemia possibly affecting the left anterior descending artery (LAD) and left circumflex artery (LCX), with a possible diagnosis of double-vessel disease (DVD). Coronary angiography later confirmed the diagnosis of TVD with significant stenosis of the LAD, LCX, and right coronary artery, along with additional involvement of the left main coronary artery. Post-angiography, the patient was recommended for coronary artery bypass grafting as the first option and percutaneous transluminal coronary angioplasty as an alternative.

Conclusion: This case illustrates the clinical efficacy of the smartphone-based ECG device in detecting inferolateral ischemia suggestive of DVD in patients with suspected or known CAD and highlights its diagnostic concordance with standard investigations, particularly coronary angiography.

目的:本病例报告描述了基于智能手机的心电图(ECG)检测多支冠状动脉疾病(CAD)的能力,最初的发现提示双血管受累,后来通过冠状动脉造影证实为三支血管疾病(TVD)。病例报告:在本病例报告中,我们描述了一位51岁的女性,她有冠心病、高血压、TVD和急性冠状动脉综合征的病史,她在德拉敦的斯瓦米拉玛喜马拉雅大学就诊,主诉胸痛。她之前接受过经皮冠状动脉介入治疗并放置支架。常规12导联心电图(Philips PageWriter ECG)提示心肌缺血。随访时基于智能手机的心电图(Spandan Pro)显示外外侧缺血可能影响左前降支(LAD)和左旋动脉(LCX),可能诊断为双血管病变(DVD)。冠状动脉造影证实了TVD的诊断,LAD、LCX和右冠状动脉明显狭窄,并伴有左冠状动脉主干的额外受累。血管造影后,建议患者行冠状动脉旁路移植术作为第一选择,经皮冠状动脉腔内成形术作为备选。结论:本病例说明了基于智能手机的ECG设备在疑似或已知CAD患者中检测提示DVD的外周缺血的临床疗效,并突出了其诊断与标准检查的一致性,特别是冠状动脉造影。
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引用次数: 0
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