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Diagnostic and Management Challenges of Rheumatoid Arthritis-Associated Interstitial Lung Disease in a Ugandan Patient: A Case Report. 乌干达患者类风湿关节炎相关间质性肺疾病的诊断和治疗挑战:一例报告。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-10 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S547951
Abshir Hassan Adan, Abishir Mohamud Hirsi Snr, Mohamed Jayte

Introduction: Rheumatoid arthritis (RA)-associated interstitial lung disease (ILD) is a serious complication of RA, characterized by progressive pulmonary fibrosis. Diagnosing and managing RA-ILD can be particularly challenging in resource-limited settings, where access to advanced diagnostic tools and treatment options may be limited. Early detection and intervention are critical for improving outcomes.

Case presentation: A 40-year-old female with a six-year history of RA (rheumatoid factor positive) presented with a three-month history of worsening cough, shortness of breath, and chest pain. On examination, she exhibited signs of respiratory distress and digital clubbing. Baseline oxygen saturation was 81% on 5 L/min supplemental oxygen. Chest X-ray revealed bilateral reticular opacities, while a CT scan showed bilateral fibrotic changes and ground-glass opacities, suggestive of an NSIP-like pattern, although formal HRCT classification could not be confirmed. Anti-CCP testing and pulmonary function tests were unavailable due to resource limitations. The patient was managed with supplemental oxygen therapy, corticosteroids, and methotrexate, along with lifestyle modifications and pulmonary rehabilitation. Follow-up over two months showed marked symptomatic improvement.

Conclusion: This case emphasizes the challenges of diagnosing and managing RA-associated ILD in resource-limited settings. It highlights the importance of clinical suspicion, pragmatic use of available resources, and the need to strengthen diagnostic capacity in low-resource environments.

类风湿关节炎(RA)相关间质性肺疾病(ILD)是RA的严重并发症,以进行性肺纤维化为特征。在资源有限的环境中,诊断和管理RA-ILD尤其具有挑战性,因为在这些环境中,获得先进诊断工具和治疗方案的机会可能有限。早期发现和干预对改善结果至关重要。病例介绍:40岁女性,6年类风湿因子阳性,3个月咳嗽加重、呼吸急促、胸痛。经检查,她有呼吸窘迫和数码棒的迹象。在5l /min的补充氧条件下,基线血氧饱和度为81%。胸部x线显示双侧网状混浊,而CT扫描显示双侧纤维化改变和磨玻璃混浊,提示nsip样模式,尽管正式的HRCT分类无法确认。由于资源限制,无法进行抗ccp检测和肺功能检测。患者接受补充氧疗、皮质类固醇和甲氨蝶呤治疗,同时进行生活方式改变和肺部康复治疗。随访两个多月,症状明显改善。结论:本病例强调了在资源有限的环境下诊断和管理ra相关ILD的挑战。它强调了临床怀疑、务实利用现有资源的重要性,以及在资源匮乏的环境中加强诊断能力的必要性。
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引用次数: 0
Successful Local Control of Orbital ASPS Using VMAT-Based Adjuvant Radiotherapy with Simultaneous Integrated Boost: A 3-Year Follow-Up Case Report. 基于vmat的辅助放疗与同步综合增强术成功局部控制眼眶ASPS: 3年随访病例报告。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-10 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S557971
Hind Muteb Albadrani, Lulwah Abduljabbar

Orbital Alveolar Soft Part Sarcoma (ASPS) is an extremely rare malignancy, with limited case reports. Diagnosis is challenging owing to its slow-growing nature and non-specific symptoms. Furthermore, standardized treatment protocols are lacking, and the long-term outcomes remain poorly understood. We aimed to address these gaps by presenting a rare case of orbital ASPS and outlining the diagnostic challenges, treatment approach, and long-term follow-up to inform the clinical management. A 28-year-old male presented with diplopia, restricted ocular movements, and orbital swelling. Magnetic resonance imaging revealed a 3.81 × 1.99-cm mass adjacent to the left medial rectus muscle, which was histopathologically confirmed as ASPS. A personalized therapeutic approach involving surgery and radiotherapy achieved stable disease, preserved vision, and no recurrence over a 3-year follow-up period. These findings contribute to the existing body of knowledge regarding the clinical management of orbital ASPS, underscoring the importance of individualized treatment strategies. Routine long-term surveillance and multidisciplinary care are essential in the management of rare cases. This case further emphasizes the need for continued research and documentation to enhance the diagnostic accuracy and refine the treatment guidelines for ASPS.

眼眶肺泡软组织肉瘤是一种极为罕见的恶性肿瘤,病例报道有限。由于其生长缓慢的性质和非特异性症状,诊断具有挑战性。此外,缺乏标准化的治疗方案,长期结果仍然知之甚少。我们的目的是通过介绍一个罕见的眼眶ASPS病例,并概述诊断挑战,治疗方法和长期随访来解决这些空白,以告知临床管理。男性,28岁,复视,眼球活动受限,眼眶肿胀。磁共振成像示左侧内直肌附近3.81 × 1.99 cm肿块,组织病理学证实为ASPS。个性化的治疗方法包括手术和放疗,在3年的随访期间,病情稳定,视力保持,无复发。这些发现为眼眶ASPS临床管理的现有知识体系做出了贡献,强调了个性化治疗策略的重要性。常规长期监测和多学科护理对罕见病例的管理至关重要。该病例进一步强调需要继续进行研究和文献记录,以提高诊断准确性并完善ASPS的治疗指南。
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引用次数: 0
A Challenging Case of MOG-Associated Optic Neuritis: The Role of IL-6 Inhibition in Refractory Disease. 一例mog相关性视神经炎:IL-6抑制在难治性疾病中的作用
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-06 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S563753
Hind Alnajashi, Mesedah Alnahdi

We present a case of a 21-year-old woman diagnosed with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), characterized by recurrent optic neuritis and progressive vision loss. Despite multiple immunosuppressive therapies-including corticosteroids, intravenous immunoglobulin (IVIG), azathioprine, mycophenolate mofetil, and rituximab-the patient continued to experience disabling relapses, particularly during steroid tapering. Ongoing disease activity, combined with significant steroid-related side effects, prompted a trial of subcutaneous tocilizumab, an interleukin-6 (IL-6) receptor inhibitor. Following its introduction, the patient remained relapse-free, and her steroid dose was successfully reduced. This case highlights the complexity of managing refractory MOGAD and underscores the potential role of IL-6 inhibition in treatment-resistant cases. There are sparse reports about the use of subcutaneous tocilizumab (TCZ) in MOGAD, and this case contributes to the growing body of real-world evidence supporting its use. As no standardized treatment protocol currently exists, reporting such cases is vital for advancing future therapeutic strategies and guidelines.

我们报告一例21岁的女性被诊断为髓鞘少突胶质细胞糖蛋白抗体相关疾病(MOGAD),其特征是复发性视神经炎和进行性视力丧失。尽管使用了多种免疫抑制疗法——包括皮质类固醇、静脉注射免疫球蛋白(IVIG)、硫唑嘌呤、霉酚酸酯和利妥昔单抗——但患者仍会经历致残复发,尤其是在类固醇逐渐减少期间。持续的疾病活动,加上显著的类固醇相关副作用,促使了一项皮下tocilizumab的试验,这是一种白细胞介素-6 (IL-6)受体抑制剂。引入后,患者保持无复发,她的类固醇剂量成功减少。该病例强调了难治性MOGAD的复杂性,并强调了IL-6抑制在治疗耐药病例中的潜在作用。关于在MOGAD中使用皮下tocilizumab (TCZ)的报道很少,该病例有助于越来越多的真实证据支持其使用。由于目前没有标准化的治疗方案,报告此类病例对于推进未来的治疗策略和指导方针至关重要。
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引用次数: 0
HIV-Related Toxoplasmosis Infection. A Rare Case of Simultaneous Cardiac and Cerebral Involvement. hiv相关弓形虫感染。心脏和大脑同时受累的罕见病例。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-06 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S561898
Yekosani Mitala, Nathan Murungi, Abraham Birungi, Samuel Tumwesigire, Simeon Eloba, Augustine Mutudhu, Moses Arineitwe, Dianah Ishimwe, Richard Dratu, Francis Nsumba Kitenda, Joel Musayi, Hope Mudondo, Raymond Atwine

Toxoplasmosis is a significant opportunistic infection among people living with HIV (PLHIV), primarily manifesting as cerebral disease. Cardiac involvement, while rare, significantly complicates clinical management. This report describes an unusual presentation of concurrent cerebral and cardiac toxoplasmosis in a 50-year-old HIV-positive male initially treated for severe malaria. Despite initial symptomatic relief, the patient rapidly deteriorated neurologically and subsequently succumbed. The autopsy revealed characteristic cerebral and myocardial lesions confirmed by histopathology. The case underscores the diagnostic complexities and the necessity for high clinical suspicion in managing PLHIV with atypical presentations, especially in malaria-endemic areas.

弓形虫病是艾滋病毒感染者(PLHIV)中一种重要的机会性感染,主要表现为大脑疾病。心脏受累,虽然罕见,但显着复杂化临床管理。本报告描述了一名最初因严重疟疾接受治疗的50岁艾滋病毒阳性男性并发脑和心弓形虫病的不寻常表现。尽管最初症状缓解,但患者神经系统迅速恶化,随后死亡。尸检显示经组织病理学证实的特征性大脑和心肌病变。该病例强调了诊断的复杂性和在处理具有非典型表现的PLHIV时高度临床怀疑的必要性,特别是在疟疾流行地区。
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引用次数: 0
Rare Case of Aspergillus fumigatus Isolated from Renal Stone in an Immunocompetent Patient. 免疫正常患者肾结石分离罕见烟曲霉一例。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-05 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S555172
Rajshree Bhujel, Niraj Thapa, Rajani Shrestha, Prashant Pandit, Ashmita Sapkota, Kamana Chhetri, Sampada Subba, Bhudev Singh Rajput, Shishir Gokhale, Niranjan Nayak

Background: Aspergillus species are relatively rare and typically occur in immune compromised individuals such as those undergoing organ transplantation, chemotherapy, or long-term corticosteroid therapy. Renal Aspergillosis is an uncommon manifestation that generally occurs as part of a disseminated infection in immunocompromised patients.

Case: A 22 yrs male patient came to emergency department of Manipal Teaching Hospital with the chief complaints of right flank pain, 3-4 episodes of vomiting for last 4 days, had acute onset, gradually progressive non-radiating aggravated pain and no history of any other medical conditions. His urine sample showed plenty of red blood cell in routine microscopy and other blood laboratory tests were within normal limit. Computed tomography of the kidneys, ureter and bladder showed multiple bilateral stones in both kidneys. Kidney stones were surgically removed by bilateral retrograde intrarenal surgery with total lithotripsy. After surgery, the renal calculi were received in microbiology laboratory for microbial analysis. The crushed material of renal stone was used for microbial culture and direct microscopy using 10% KOH wet mount which showed hyphae. Both bacterial culture media and Sabouraud's Dextrose Agar showed growth of molds which was identified as Aspergillus fumigatius. The patient was treated with voriconazole intravenously with the loading dose of 6mg/Kg IV 12 hourly for 2 days followed by 4mg/Kg 12 hourly for 7 days. After 7 days of treatment, patient recovered well. Post-operative follow-up and post-operative radiography did not show evidence of any recurrence.

Conclusion: This rare case of fungal etiology in patient having renal stones reveals the importance of closely monitoring postoperative patients, even when typical infection risk factors are absent.

背景:曲霉菌种类相对罕见,通常发生在免疫功能低下的个体中,如接受器官移植、化疗或长期皮质类固醇治疗的个体。肾曲霉病是一种不常见的表现,通常发生作为播散性感染的一部分,在免疫功能低下的患者。病例:男,22岁,以右侧腹痛为主诉,近4天呕吐3-4次,起病急性,逐渐进行性非放射性加重疼痛,无其他病史。他的尿样在常规显微镜和其他血液实验室检查中显示大量红细胞在正常范围内。肾脏、输尿管及膀胱电脑断层显示双侧肾脏多发结石。采用双侧逆行肾内手术联合全碎石术取出肾结石。术后肾结石送微生物实验室进行微生物分析。取肾结石碎料进行微生物培养,用10% KOH湿mount直接显微镜观察菌丝。细菌培养基和沙伯劳德葡萄糖琼脂均有霉菌生长,鉴定为烟曲霉。静脉滴注伏立康唑,负荷剂量6mg/Kg静脉滴注12小时,连续2 d,随后4mg/Kg静脉滴注12小时,连续7 d。治疗7天后,患者恢复良好。术后随访及术后x线片未见复发迹象。结论:这一罕见的肾结石患者的真菌病因显示了密切监测术后患者的重要性,即使没有典型的感染危险因素。
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引用次数: 0
A Rare Case of Strangulated Hernia of the Canal of Nuck with Ovarian Necrosis in a Female Infant from a Resource-Limited Setting: A Case Report and Literature Review. 资源有限的女婴颈管绞窄性疝合并卵巢坏死1例报告及文献复习。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-05 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S565257
Gabriel Kakuru Shamavu, Jeannot Munihire Baanitse, Allen Kawaya Awazi, Jean-Paul Mitengezo Twishime, Banga Mseza, Ahmed Kiswezi

Background: The canal of Nuck, the female equivalent of the male processus vaginalis, is a rare site of hernia in infants. In severe cases, incarceration or strangulation may occur, posing the risk of tissue necrosis and requiring urgent surgical intervention.

Case presentation: We report a case of a 13-week-old female infant presenting with a painful, irreducible swelling in the left inguinal region. Surgical exploration revealed a strangulated necrotic left ovary. An oophorectomy and herniotomy were performed.

Discussion: An incarcerated hernia of the canal of Nuck is a surgical emergency, and limited imaging access should not delay the decision. High clinical suspicion of an incarcerated hernia and cost-effective ultrasonography are crucial for early diagnosis and timely surgical intervention to prevent irreversible complications.

Conclusion: This report highlights diagnostic and management challenges in a low-resource setting and underscores the importance of early recognition in preventing irreversible complications.

背景:努克管,女性相当于男性的阴道突,是婴儿疝气的罕见部位。在严重的情况下,可能发生嵌顿或绞窄,造成组织坏死的危险,需要紧急手术干预。病例介绍:我们报告了一例13周大的女婴,在左侧腹股沟区域出现疼痛,无法减轻的肿胀。手术探查发现左侧卵巢绞窄坏死。行卵巢切除术和疝切开术。讨论:一个嵌顿疝的Nuck管是外科急诊,有限的影像访问不应延误决定。临床对嵌顿疝的高度怀疑和高性价比的超声检查对于早期诊断和及时手术干预以防止不可逆转的并发症至关重要。结论:本报告强调了在低资源环境下的诊断和管理挑战,并强调了早期识别对预防不可逆转并发症的重要性。
{"title":"A Rare Case of Strangulated Hernia of the Canal of Nuck with Ovarian Necrosis in a Female Infant from a Resource-Limited Setting: A Case Report and Literature Review.","authors":"Gabriel Kakuru Shamavu, Jeannot Munihire Baanitse, Allen Kawaya Awazi, Jean-Paul Mitengezo Twishime, Banga Mseza, Ahmed Kiswezi","doi":"10.2147/IMCRJ.S565257","DOIUrl":"10.2147/IMCRJ.S565257","url":null,"abstract":"<p><strong>Background: </strong>The canal of Nuck, the female equivalent of the male processus vaginalis, is a rare site of hernia in infants. In severe cases, incarceration or strangulation may occur, posing the risk of tissue necrosis and requiring urgent surgical intervention.</p><p><strong>Case presentation: </strong>We report a case of a 13-week-old female infant presenting with a painful, irreducible swelling in the left inguinal region. Surgical exploration revealed a strangulated necrotic left ovary. An oophorectomy and herniotomy were performed.</p><p><strong>Discussion: </strong>An incarcerated hernia of the canal of Nuck is a surgical emergency, and limited imaging access should not delay the decision. High clinical suspicion of an incarcerated hernia and cost-effective ultrasonography are crucial for early diagnosis and timely surgical intervention to prevent irreversible complications.</p><p><strong>Conclusion: </strong>This report highlights diagnostic and management challenges in a low-resource setting and underscores the importance of early recognition in preventing irreversible complications.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1547-1551"},"PeriodicalIF":0.7,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12689429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145742587","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
Long-Term Beneficial Effects of Dog Assisted Therapy on Depressive Symptoms in a Patient with Atypical Autism. 犬辅助治疗对非典型自闭症患者抑郁症状的长期有益影响
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-05 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S537904
Anitha Risberg, Ann Edner

This single-case study was conducted on a 34-year-old woman diagnosed with therapy-resistant depression and co-occurring atypical autism. The subject had been kept on the same medications for eight years despite her condition not improving and at the same time experiencing side effects. Previous studies and patient experiences suggest that many physicians are reluctant to end prescribed medication even if the patient is experiencing inadequate benefits and questionable effects. Co-occurring diseases often share overlapping symptoms, which can make accurate diagnosis and treatment more challenging, such as for patients with depression and autism. The problem becomes even more complicated when looking into the long-term treatment of depression occurring alongside autism spectrum disorder (ASD). The focus of conducting this case study was to determine the effect of DAT on a patient with confirmed therapy-resistant depression and ASD and if DAT would provide long-term benefit for the subject. The study's results indicate that the patient experienced both quick improvement and long-term positive outcomes of DAT and is now in her 10th-year symptom-free.

这项单例研究是对一名34岁的女性进行的,她被诊断患有难治性抑郁症和非典型自闭症。尽管她的病情没有改善,同时还经历了副作用,但她已经连续八年服用同样的药物。以前的研究和病人的经验表明,许多医生不愿意结束处方药,即使病人正在经历不足的好处和可疑的效果。共同发生的疾病通常有重叠的症状,这可能使准确的诊断和治疗更具挑战性,例如抑郁症和自闭症患者。当研究与自闭症谱系障碍(ASD)一起出现的抑郁症的长期治疗时,这个问题变得更加复杂。开展本病例研究的重点是确定DAT对确诊难治性抑郁症和ASD患者的影响,以及DAT是否会为受试者提供长期益处。研究结果表明,患者经历了快速改善和长期积极的DAT结果,现在是她的第10年无症状。
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引用次数: 0
Treating Multiline Treatment Failure in Advanced Colon Cancer Based on Evolutionary Theory: A Case Report. 基于进化理论治疗晚期结肠癌多线治疗失败1例。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-04 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S560068
Xinyu Wu, Qingying Xian, Rui Ling, Wenyu Zhu

Purpose: Currently, there is no standard regimen for third-line therapy in advanced colon cancer. Intratumoral heterogeneity and tumor evolution have been substantiated in multiple cancer types, paving the way for exploratory research into new treatment strategies for pulmonary metastases from colorectal cancer.

Patients and methods: In this report, we present a case of advanced colon cancer with lung metastasis. After multiple lines of therapy (including FOLFOX, FOLFIRI combined with targeted therapy) failed, the patient received a lung cancer-derived regimen to colorectal pulmonary metastases through an evolutionary perspective.

Results: After two cycles, the patient achieved partial response (PR), and after eight cycles, the disease was stable (SD), with a good quality of life.

Conclusion: The application of a lung cancer-derived regimen to colorectal pulmonary metastases through an evolutionary perspective may offer a new therapeutic direction for patients who have exhausted standard options.

目的:目前,晚期结肠癌的三线治疗没有标准方案。肿瘤内异质性和肿瘤进化在多种癌症类型中得到证实,为探索结直肠癌肺转移的新治疗策略铺平了道路。患者和方法:在此报告中,我们报告了一例晚期结肠癌伴肺转移的病例。在多线治疗(包括FOLFOX, FOLFIRI联合靶向治疗)失败后,患者从进化角度接受肺癌衍生的结直肠肺转移方案。结果:2个周期后患者部分缓解(PR), 8个周期后病情稳定(SD),生活质量良好。结论:从进化的角度将肺癌衍生方案应用于结直肠癌肺转移,可能为标准方案已用尽的患者提供新的治疗方向。
{"title":"Treating Multiline Treatment Failure in Advanced Colon Cancer Based on Evolutionary Theory: A Case Report.","authors":"Xinyu Wu, Qingying Xian, Rui Ling, Wenyu Zhu","doi":"10.2147/IMCRJ.S560068","DOIUrl":"10.2147/IMCRJ.S560068","url":null,"abstract":"<p><strong>Purpose: </strong>Currently, there is no standard regimen for third-line therapy in advanced colon cancer. Intratumoral heterogeneity and tumor evolution have been substantiated in multiple cancer types, paving the way for exploratory research into new treatment strategies for pulmonary metastases from colorectal cancer.</p><p><strong>Patients and methods: </strong>In this report, we present a case of advanced colon cancer with lung metastasis. After multiple lines of therapy (including FOLFOX, FOLFIRI combined with targeted therapy) failed, the patient received a lung cancer-derived regimen to colorectal pulmonary metastases through an evolutionary perspective.</p><p><strong>Results: </strong>After two cycles, the patient achieved partial response (PR), and after eight cycles, the disease was stable (SD), with a good quality of life.</p><p><strong>Conclusion: </strong>The application of a lung cancer-derived regimen to colorectal pulmonary metastases through an evolutionary perspective may offer a new therapeutic direction for patients who have exhausted standard options.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1533-1538"},"PeriodicalIF":0.7,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12684254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145714269","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
Massive Intracranial Lesion in an AIDS Patient: Diagnostic Challenge Between Brain Tumor and Toxoplasmic Encephalitis Resolved by Empirical Therapy. 一名艾滋病患者颅内巨大病变:脑肿瘤与弓形虫性脑炎之间的诊断挑战:经验疗法解决。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-03 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S553371
Lun Zou, Yuting Diao, Chunfang You

Background: Human immunodeficiency virus (HIV)-associated cerebral toxoplasmosis is the most frequent cause of ring-enhancing brain lesions in acquired immune deficiency syndrome (AIDS) patients but is often misdiagnosed as neoplasm due to overlapping clinical and radiological features. Seronegative examinations further complicate diagnosis, risking fatal delays in treatment.

Case presentation: A 32-year-old male with undiagnosed HIV presented with right hemiparesis, dysarthria, and headache. Magnetic resonance imaging (MRI) revealed a 38×54 mm ring-enhancing left frontoparietal mass with significant edema, midline shift, and ventricular compression, initially suggestive of glioblastoma. HIV serology confirmed infection. Toxoplasma antibodies, nucleic acid test and next-generation sequencing were all negative. Despite 17 days of antiretroviral therapy and sulfamethoxazole-trimethoprim prophylaxis, he deteriorated to coma with lesion progression on repeat MRI. Empirical anti-toxoplasma therapy was initiated. Within one week, consciousness and speech improved. At 6 weeks, MRI showed reduced lesion size and edema, and right limb strength partially recovered, enabling discharge.

Conclusion: This case illustrated that seronegative Toxoplasmic encephalitis may mimic aggressive neoplasms radiologically and clinically in advanced AIDS. Empirical anti-toxoplasma therapy should be considered a prioritized intervention over invasive diagnostics for ring-enhancing lesions in severely immunocompromised patients, particularly when brain biopsy is high-risk or contraindicated, even in seronegative cases.

背景:人类免疫缺陷病毒(HIV)相关的脑弓形虫病是获得性免疫缺陷综合征(AIDS)患者中最常见的环状增强脑病变原因,但由于临床和影像学特征重叠,常被误诊为肿瘤。血清阴性检查进一步使诊断复杂化,有可能造成致命的治疗延误。病例介绍:一名32岁男性,未确诊HIV,表现为右半瘫、构音障碍和头痛。磁共振成像(MRI)显示一个38×54毫米环形增强的左侧额顶肿块,伴有明显水肿,中线移位和心室压迫,最初提示胶质母细胞瘤。HIV血清学证实感染。弓形虫抗体、核酸检测、新一代测序均为阴性。尽管接受了17天的抗逆转录病毒治疗和磺胺甲恶唑-甲氧苄啶预防治疗,但在重复MRI检查中,他恶化为昏迷,病变进展。开始经验性抗弓形虫治疗。在一周内,意识和语言都有所改善。6周时,MRI显示病变大小和水肿减小,右肢力量部分恢复,可以出院。结论:本病例提示血清阴性的弓形虫脑炎在放射学和临床上可能与晚期艾滋病的侵袭性肿瘤相似。对于严重免疫功能低下患者的环增强病变,经验性抗弓形虫治疗应被视为比侵入性诊断更优先的干预措施,特别是当脑活检是高风险或禁忌症时,即使是血清阴性病例。
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引用次数: 0
Moving Through Genetic Alterations and PD-L1 Expression in High-Grade Fetal Adenocarcinoma of the Lung: A Case Report and Literature Review. 通过遗传改变和PD-L1表达在高级别胎儿肺腺癌中移动:一例报告和文献复习。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-03 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S554848
YunQiu Xu, KangJian Dai, Wei Chen, Haifan Wu, Peifeng Lin

Background: Lung cancer, the most common malignancy in humans, can be classified into a wide range of subtypes and molecular variants. Fetal adenocarcinoma of the lung (FLAC) is an infrequent subtype of lung adenocarcinoma with distinct histological characteristics. However, its incidence is extremely low (0.1-0.5% of primary lung cancers), and its biological features remain poorly understood. In the era of immunotherapy and targeted therapy, characterizing the genetic alterations of FLAC is essential for developing personalized treatment strategies and improving patient outcomes. Here, we report the genetic alterations and PD-L1 expression in a patient with high-grade FLAC (H-FLAC) and review the relevant literature, This is one of the few reported cases describing PD-L1 expression and TP53 mutation status in H-FLAC.

Case manifestations: A 57-year-old man with a 30-year history of smoking presented to our hospital with persistent cough, sputum, and chest tightness for 30 years, which had worsened for 1 month. Computed tomography (CT) of the chest revealed an irregular nodule in the posterior segment of the upper lobe of the left lung. The patient underwent posterior resection of the left upper lung apex, and postoperative pathology suggested H-FLAC with a tumor stage of pT1N0M0.

Conclusion: This case study provides an opportunity to better understand H-FLAC, whose genetic alterations have not been well characterized, and to identify valuable molecular markers for potential targeted therapies. We conducted gene sequencing and PD-L1 expression testing, which are helpful for H-FLAC research.

背景:肺癌是人类最常见的恶性肿瘤,可分为多种亚型和分子变异。胎儿肺腺癌(FLAC)是一种少见的肺腺癌亚型,具有独特的组织学特征。然而,其发病率极低(原发性肺癌的0.1-0.5%),其生物学特征仍知之甚少。在免疫治疗和靶向治疗的时代,表征FLAC的遗传改变对于制定个性化治疗策略和改善患者预后至关重要。在这里,我们报道了一名高级别FLAC (H-FLAC)患者的基因改变和PD-L1表达,并回顾了相关文献,这是少数报道的描述H-FLAC中PD-L1表达和TP53突变状态的病例之一。病例表现:男性,57岁,吸烟史30年,因持续咳嗽、痰多、胸闷30年,加重1个月来我院就诊。胸部计算机断层扫描(CT)显示在左肺上叶后段有不规则结节。患者行左上肺尖后路切除,术后病理提示H-FLAC,肿瘤分期pT1N0M0。结论:本病例研究为更好地了解H-FLAC(其遗传改变尚未得到很好的表征)提供了机会,并为潜在的靶向治疗提供了有价值的分子标记。我们进行了基因测序和PD-L1表达检测,这有助于H-FLAC的研究。
{"title":"Moving Through Genetic Alterations and PD-L1 Expression in High-Grade Fetal Adenocarcinoma of the Lung: A Case Report and Literature Review.","authors":"YunQiu Xu, KangJian Dai, Wei Chen, Haifan Wu, Peifeng Lin","doi":"10.2147/IMCRJ.S554848","DOIUrl":"10.2147/IMCRJ.S554848","url":null,"abstract":"<p><strong>Background: </strong>Lung cancer, the most common malignancy in humans, can be classified into a wide range of subtypes and molecular variants. Fetal adenocarcinoma of the lung (FLAC) is an infrequent subtype of lung adenocarcinoma with distinct histological characteristics. However, its incidence is extremely low (0.1-0.5% of primary lung cancers), and its biological features remain poorly understood. In the era of immunotherapy and targeted therapy, characterizing the genetic alterations of FLAC is essential for developing personalized treatment strategies and improving patient outcomes. Here, we report the genetic alterations and PD-L1 expression in a patient with high-grade FLAC (H-FLAC) and review the relevant literature, This is one of the few reported cases describing PD-L1 expression and TP53 mutation status in H-FLAC.</p><p><strong>Case manifestations: </strong>A 57-year-old man with a 30-year history of smoking presented to our hospital with persistent cough, sputum, and chest tightness for 30 years, which had worsened for 1 month. Computed tomography (CT) of the chest revealed an irregular nodule in the posterior segment of the upper lobe of the left lung. The patient underwent posterior resection of the left upper lung apex, and postoperative pathology suggested H-FLAC with a tumor stage of pT<sub>1</sub>N<sub>0</sub>M<sub>0</sub>.</p><p><strong>Conclusion: </strong>This case study provides an opportunity to better understand H-FLAC, whose genetic alterations have not been well characterized, and to identify valuable molecular markers for potential targeted therapies. We conducted gene sequencing and PD-L1 expression testing, which are helpful for H-FLAC research.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1519-1526"},"PeriodicalIF":0.7,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12682920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145714210","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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International Medical Case Reports Journal
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