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Diagnosis and Management of a Long-Standing Eumycetoma of the Wrist in Somalia: A Case Report in a Resource-Limited Setting. 诊断和管理一个长期在手腕部尘肺肿在索马里:一个病例报告在资源有限的设置。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-08 eCollection Date: 2026-01-01 DOI: 10.2147/IMCRJ.S565197
Adam Abdulahi Mohamed, Shafie Abdulkadir Hassan, Mhmoud Mohmed Mhmoud Hassan

Introduction: Mycetoma is a chronic, progressive, granulomatous inflammatory disease affecting subcutaneous tissues, most commonly caused by traumatic inoculation of certain fungi (eumycetoma) or bacteria (actinomycetoma). Common etiological agents for eumycetoma include Madurella mycetomatis and Trematosphaeria grisea, while actinomycetoma is frequently caused by Nocardia or Streptomyces species. It is endemic in tropical and subtropical regions, including Somalia. The clinical triad of a painless subcutaneous mass, multiple draining sinuses, and the presence of grains in the discharge is characteristic.

Case presentation: We report the case of a 38-year-old female from Baladweyn, Somalia, who presented with a three-year history of a slowly growing, firm, nodular swelling on the ventral aspect of her right wrist. The lesion was accompanied by mild pain and a discharge containing black grains, which are clinically characteristic of dematiaceous fungi such as Madurella species. Her vital signs and preliminary laboratory investigations, including viral screenings, were unremarkable. The patient underwent complete en bloc surgical excision of the 3x2x1 cm mass. Histopathological examination confirmed the diagnosis of eumycetoma, revealing fungal grains surrounded by a dense neutrophilic and granulomatous inflammatory infiltrate.

Conclusion: This case illustrates the classic clinical and histopathological presentation of eumycetoma. In a resource-limited setting where species-specific identification via culture or PCR and extensive antifungal therapy may be unavailable, complete surgical excision for localized lesions proved to be a successful and curative management strategy. This report underscores the importance of early diagnosis and surgical intervention in preventing the significant morbidity associated with advanced mycetoma.

简介:足菌肿是一种慢性、进行性、肉芽肿性炎症性疾病,影响皮下组织,最常见的原因是外伤性接种某些真菌(真菌肿)或细菌(放线菌肿)。真菌瘤的常见病原包括足菌马杜雷菌和灰氧滴虫,而放线菌瘤通常由诺卡菌或链霉菌引起。它在热带和亚热带地区流行,包括索马里。临床表现为无痛性皮下肿块、多个引流窦和分泌物中颗粒的存在。病例介绍:我们报告一名来自索马里Baladweyn的38岁女性病例,她表现为三年的历史,右手腕腹侧缓慢生长,坚固,结节性肿胀。病变伴有轻度疼痛,分泌物中含有黑色颗粒,这是马杜洛属真菌的临床特征。她的生命体征和初步的实验室检查,包括病毒筛查,都没有什么特别的。患者接受了完整的整体手术切除3x2x1 cm肿块。组织病理学检查证实了真菌性肿的诊断,发现真菌颗粒周围有致密的中性粒细胞和肉芽肿性炎症浸润。结论:本病例具有典型的临床和组织病理学表现。在资源有限的环境中,可能无法通过培养或PCR进行物种特异性鉴定和广泛的抗真菌治疗,因此对局部病变进行完全手术切除被证明是一种成功且可治愈的管理策略。本报告强调早期诊断和手术干预对预防晚期足菌肿相关的显著发病率的重要性。
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引用次数: 0
Clinical Insights Into Ramsay Hunt Syndrome: A Case Report Highlighting Diagnostic Challenges and Management Considerations. 临床洞察拉姆齐亨特综合征:一个病例报告强调诊断挑战和管理考虑。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-31 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S558967
Hamza Abdiaziz Osman, Abdalla Ahmed Deifa, Mutaz Ali

Background: Ramsay Hunt syndrome is a form of acute herpes zoster caused by reactivation of the varicella-zoster virus in the geniculate ganglion. It presents with peripheral facial paralysis and characteristic vesicular lesions in the ear or oropharynx. This report highlights diagnostic challenges associated with delayed care.

Patient information: We describe a 67-year-old woman who had no prior medical history. She first reported increasing right ear pain two weeks ago, which was followed by fever, headache, and left-sided facial paralysis. The facial weakness was manifested by her being unable to completely close her left eye and the drooping of the left side.

Clinical findings: The patient has a healed right auricular rash (see Figures 1 and 2) and Grade IV right facial paralysis. After ruling out other possible causes by CT and lab tests, a clinical diagnosis of Ramsay Hunt syndrome was made.

Intervention: While the patient came two weeks after the onset of symptoms, the key window for effective antiviral and corticosteroid therapy (usually within 72 hours) had already passed. As a result, these known treatments were not administered. The patient was given supportive treatment, which included eye drops to prevent corneal problems from incomplete eye closure and analgesics to control pain.

Outcome: After a month, the patient demonstrated functional improvement, including improved mouth symmetry when smiling and full eye closure with little effort. Her facial nerve function was therefore classed as House-Brackmann Grade IV. This case highlights the long-term morbidity associated with RHS when immediate intervention is not possible.

Conclusion: Despite being uncommon, Ramsay Hunt Syndrome requires a high level of suspicion from healthcare providers, particularly among patients who present with facial palsy along with vesicular rash and ear pain. To ensure prompt intervention and avoid long-term neurological consequences, early and precise diagnosis is crucial.

背景:拉姆齐-亨特综合征是由膝状神经节水痘-带状疱疹病毒再激活引起的一种急性带状疱疹。它表现为周围性面瘫和特征性的耳或口咽部水疱性病变。本报告强调了与延迟护理相关的诊断挑战。患者信息:我们描述了一位67岁的女性,她没有既往病史。两周前,她首次报告右耳疼痛加重,随后出现发烧、头痛和左侧面瘫。面部虚弱表现为左眼不能完全闭上,左侧下垂。临床表现:患者右侧耳廓皮疹愈合(见图1和2),右侧面瘫4级。在通过CT和实验室检查排除了其他可能的原因后,医生做出了拉姆齐·亨特综合征的临床诊断。干预:当患者在出现症状两周后就诊时,有效抗病毒和皮质类固醇治疗的关键窗口期(通常在72小时内)已经过去。结果,这些已知的治疗方法没有得到实施。患者接受支持性治疗,包括滴眼液以防止不完全闭眼引起的角膜问题和止痛剂以控制疼痛。结果:一个月后,患者的功能得到了改善,包括微笑时嘴巴对称的改善,以及毫不费力地完全闭上眼睛。因此,她的面神经功能被归类为House-Brackmann IV级。该病例强调了RHS在无法立即干预时的长期发病率。结论:尽管罕见,Ramsay Hunt综合征需要医疗保健提供者的高度怀疑,特别是在出现面瘫、水疱疹和耳痛的患者中。为了确保及时干预和避免长期的神经系统后果,早期和准确的诊断至关重要。
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引用次数: 0
A Rare Case of Extensive Oral Involvement in Bullous Systemic Lupus Erythematosus: Diagnostic and Therapeutic Challenges. 一例罕见的大疱性系统性红斑狼疮广泛口腔受累:诊断和治疗的挑战。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-30 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S566615
Tiara Resmi, Oki Suwarsa, Irna Sufiawati

Bullous systemic lupus erythematosus (BSLE) is a rare autoantibody-mediated subepidermal blistering disease that affects fewer than 5% of systemic lupus erythematosus (SLE) patients. While oral involvement is generally mild, extensive oral lesions as the predominant manifestation are exceptionally uncommon and present significant diagnostic and therapeutic challenges. This report describes a unique case of BSLE with dominant and extensive oral involvement, a presentation rarely documented in the literature. A 29-year-old female presented to the Oral Medicine Clinic with severe, diffuse oral ulcerations of one week's duration (VAS pain score 8/10), which impaired swallowing and were accompanied by fever, without any history of new medication or food exposure. A 29-year-old female presented to the Oral Medicine Clinic with severe diffuse oral ulcerations for one week (VAS pain score 8/10) that impaired swallowing and were accompanied by fever, without any history of new medications or food exposure. Clinical examination identified widespread erythematous bullae and erosions across the oral mucosa, as well as non-scrapable white plaques on the dorsum and lateral tongue. Histopathological analysis revealed subepidermal separation with predominant neutrophilic infiltration, confirming BSLE and distinguishing it from other vesiculobullous disorders in the absence of direct immunofluorescence (DIF) testing. Management consisted of a multimodal approach, including topical therapy (dexamethasone ointment, antiseptic rinses, saline compresses, and protective emollients) and systemic therapy with high-dose intravenous methylprednisolone and oral cyclosporine, supported by antibiotics and analgesics under dermatology supervision. Notably, all oral lesions resolved completely within four weeks without the need for more aggressive systemic treatment. This case highlights the diagnostic value of a multidisciplinary, clinicopathological approach in confirming BSLE with dominant oral involvement, even when advanced immunofluorescence testing is unavailable, and demonstrates the effectiveness of a tailored, minimally invasive therapeutic strategy that achieved complete healing without the need for aggressive systemic therapy.

大疱性系统性红斑狼疮(BSLE)是一种罕见的自身抗体介导的表皮下起疱性疾病,影响不到5%的系统性红斑狼疮(SLE)患者。虽然口腔受累通常是轻微的,但广泛的口腔病变作为主要表现是非常罕见的,并提出了重大的诊断和治疗挑战。本报告描述了一个独特的BSLE病例,主要和广泛的口腔累及,在文献中很少记载的表现。患者为29岁女性,因严重弥漫性口腔溃疡就诊口腔医学门诊,溃疡持续1周(VAS疼痛评分8/10),伴有吞咽障碍和发热,无任何新药物或食物暴露史。29岁女性,因严重弥漫性口腔溃疡就诊口腔医学门诊1周(VAS疼痛评分8/10),伴有吞咽障碍和发热,无任何新药物或食物暴露史。临床检查发现广泛的红斑大泡和口腔粘膜糜烂,以及不可刮擦的白色斑块在背侧和舌侧。在没有直接免疫荧光(DIF)检测的情况下,组织病理学分析显示皮下分离以中性粒细胞浸润为主,证实BSLE并将其与其他囊泡性疾病区分。治疗包括多模式方法,包括局部治疗(地塞米松软膏、消毒冲洗、生理盐水敷和保护性润肤剂)和全身治疗,大剂量静脉注射甲基强的松龙和口服环孢素,在皮肤科监督下辅以抗生素和止痛药。值得注意的是,所有口腔病变在四周内完全消退,无需更积极的全身治疗。该病例强调了多学科临床病理学方法在确认以口腔为主的BSLE中的诊断价值,即使在没有先进的免疫荧光检测的情况下,也证明了量身定制的微创治疗策略的有效性,该策略无需积极的全身治疗即可实现完全愈合。
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引用次数: 0
Malignant Transformation Associated with Endometrioid Adenocarcinoma of Abdominal Wall Endometriosis: A Case Report and Literature Review. 腹壁子宫内膜异位症伴子宫内膜样腺癌的恶性转化1例报告并文献复习。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-30 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S572060
Ming Wei, Weijun Liu, Zhangqiang Zheng, Yun Liu, Xingzhou Zhang

Introduction: Endometriosis is a prevalent chronic gynecological disease, characterized by the growth of endometrial glands and stroma outside the uterus and by the presence of chronic inflammatory lesions. This condition is one of the most common benign endometrioid proliferations, especially among premenopausal women. Although it is considered benign, endometriosis shares biological characteristics with malignant tumors, including invasion, implantation, metastasis, and recurrence. Abdominal wall endometriosis (AWE) refers to the presence of endometriosis lesions within the abdominal wall, with an extremely low incidence. Malignant transformation of AWE is exceptionally rare.

Case presentation: A 39-year-old female was admitted to the hospital on May 11, 2023, due to progressive enlargement of an abdominal mass noticed over a period of 4 months. To our knowledge, malignant transformation of abdominal wall endometriosis (AWE) is extremely rare in clinical practice, and cases of endometrioid adenocarcinoma arising from cesarean section-related AWE are even more scarce. Her medical history included surgery for a left lung teratoma 20 years ago and a cesarean section 6 years ago, with no family history of malignant tumor. This report presents a case of AWE subsequent to cesarean section, demonstrating a rare occurrence of malignant transformation into endometrioid adenocarcinoma.

Conclusion: This article emphasizes the need for heightened vigilance regarding the possibility of malignant transformation in AWE patients and suggests a multidisciplinary team (MDT) approach and individualized treatment to improve clinical outcomes. A summary of the malignant transformation associated with endometrioid adenocarcinoma in cases of AWE has been provided to describe the Pathogenesis, Clinical Manifestation, Auxiliary Examination, Pathological Features, Treatment and Follow-up of this rare condition.

简介:子宫内膜异位症是一种常见的慢性妇科疾病,其特征是子宫外子宫内膜腺体和间质的生长以及慢性炎性病变的存在。这种情况是最常见的良性子宫内膜样增生之一,特别是在绝经前妇女中。虽然子宫内膜异位症被认为是良性的,但它与恶性肿瘤具有相同的生物学特征,包括侵袭、植入、转移和复发。腹壁子宫内膜异位症(Abdominal wall endometriosis, AWE)是指腹壁内存在子宫内膜异位症病变,发病率极低。AWE的恶性转化极为罕见。病例介绍:一名39岁女性于2023年5月11日因发现腹部肿块进行性增大4个月而入院。据我们所知,临床上腹壁子宫内膜异位症(AWE)的恶性转化极为罕见,剖宫产相关AWE引起子宫内膜样腺癌的病例更是罕见。病史包括20年前左肺畸胎瘤手术,6年前剖宫产手术,无恶性肿瘤家族史。本报告报告一例剖宫产术后的子宫内膜癌,表现为罕见的恶性转化为子宫内膜样腺癌。结论:本文强调需要提高对AWE患者恶性转化可能性的警惕,并建议采用多学科团队(MDT)方法和个体化治疗来改善临床结果。本文对子宫内膜样腺癌合并子宫内膜样腺癌的发病机制、临床表现、辅助检查、病理特征、治疗及随访进行综述。
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引用次数: 0
Spinal Cord Infarction as an Atypical Thromboembolic Complication of First-Diagnosed Atrial Fibrillation. 脊髓梗死是首次诊断心房颤动的不典型血栓栓塞并发症。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-30 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S566964
Georgios Tyrikos, Paschalis Karakasis, Vasileios Nevras, Nikolaos Zelevaris, Chrysa Nalmpantidou, Georgia Gkounti

Background: Atrial fibrillation (AF) is the most common sustained arrhythmia and a major contributor to systemic thromboembolism, typically manifesting as ischemic stroke or peripheral arterial occlusion. Although spinal cord infarction (SCI) represents a rare form of ischemic injury, accounting for only 1-2% of all stroke events, its consequences are often devastating. The pathophysiological link between AF and SCI is poorly recognized, particularly in the setting of concurrent pulmonary embolism and hemodynamic instability.

Case summary: We report the case of a 91-year-old woman with chronic comorbidities who presented with first-diagnosed, asymptomatic AF and was found to have a submassive pulmonary embolism. Following initiation of anticoagulation, she developed acute flaccid paraplegia and hypotension. Spinal magnetic resonance imaging revealed a longitudinally extensive anterior-predominant T2 hyperintensity from T6 to the conus medullaris, consistent with acute anterior spinal artery territory infarction. Despite aggressive hemodynamic support, the patient's condition deteriorated and she died shortly thereafter.

Conclusion: SCI is a rare but catastrophic complication of AF. In patients with AF-especially those with concomitant venous thromboembolism or hypotension-new-onset paraplegia should prompt urgent spinal MRI to exclude ischemic myelopathy. Early recognition may guide supportive strategies, although prognosis remains poor in extensive thoracolumbar infarctions.

背景:心房颤动(AF)是最常见的持续性心律失常,也是全身性血栓栓塞的主要原因,典型表现为缺血性卒中或外周动脉闭塞。尽管脊髓梗死(SCI)是一种罕见的缺血性损伤,仅占所有卒中事件的1-2%,但其后果往往是毁灭性的。AF和SCI之间的病理生理联系还不太清楚,特别是在并发肺栓塞和血流动力学不稳定的情况下。病例总结:我们报告一例91岁女性慢性合并症,首次诊断为无症状房颤,发现有亚块状肺栓塞。开始抗凝治疗后,患者出现急性弛缓性截瘫和低血压。脊髓磁共振成像显示从T6到髓圆锥的纵向广泛的前显性T2高信号,与急性脊髓前动脉区域梗死一致。尽管有积极的血流动力学支持,患者病情恶化,不久后死亡。结论:脊髓损伤是房颤罕见但灾难性的并发症。对于房颤患者,尤其是伴有静脉血栓栓塞或低血压的患者,新发截瘫应立即进行脊柱MRI检查以排除缺血性脊髓病。早期识别可以指导支持性策略,尽管广泛胸腰椎梗死的预后仍然很差。
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引用次数: 0
Low-Level Light Therapy as a Potential Adjunctive Approach in Mucus Fishing Syndrome: Report of Two Clinical Cases. 低强度光治疗作为潜在的辅助方法治疗粘液捕捞综合征:两例临床报告。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-28 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S561367
Alessandra Mancini, Giovanna Carnovale-Scalzo, Maura Mancini, Massimiliano Borselli, Andrea Taloni, Domenico Chisari, Andrea Lucisano, Adriano Carnevali, Alessandro Meduri, Pasquale Aragona, Vincenzo Scorcia, Giuseppe Giannaccare

Mucus Fishing Syndrome (MFS) is a chronic inflammatory condition of the ocular surface characterized by repeated mechanical removal of mucus strands, leading to a cycle of irritation and excess mucus production. MFS is often associated with dry eye disease, meibomian gland dysfunction, blepharitis, and allergic conjunctivitis. Patients typically present with conjunctival hyperemia, irritation, and mucus accumulation. We describe two clinical cases of MFS in which low-level light therapy (LLLT) was used as part of a multimodal management approach. The first case involved a 32-year-old woman with a 2-year history of persistent symptoms despite previous treatments. The second case was a 50-year-old woman with severe discomfort and chronic mucus secretion unresponsive to tear substitutes alone. Both patients underwent conservative therapy including topical corticosteroids, acetylcysteine 5%, eyelid hygiene, and adjunctive LLLT (4 sessions in case #1 and 5 in case #2). MFS remains a challenging ocular surface condition requiring combined management of inflammation, mucin hypersecretion, and behavioral factors. In the cases presented, LLLT was incorporated as an adjunctive intervention within a broader therapeutic plan. Although improvement was observed, the contribution of LLLT cannot be determined based on these findings alone and further studies are needed to clarify its potential role in MFS management.

黏液捕捞综合征(MFS)是一种慢性眼表炎症,其特征是反复机械去除黏液链,导致刺激和过量黏液产生的循环。MFS通常与干眼病、睑板腺功能障碍、眼睑炎和过敏性结膜炎有关。患者通常表现为结膜充血、刺激和粘液积聚。我们描述了两个MFS的临床病例,其中低水平光疗法(LLLT)被用作多模式管理方法的一部分。第一例患者为一名32岁妇女,尽管曾接受过治疗,但仍有2年的持续症状史。第二个病例是一名50岁的女性,严重不适,慢性粘液分泌对单独的泪液替代品无反应。两名患者均接受了保守治疗,包括局部皮质类固醇、5%乙酰半胱氨酸、眼睑卫生和辅助LLLT(病例1为4次,病例2为5次)。MFS仍然是一种具有挑战性的眼表疾病,需要炎症、粘蛋白分泌过多和行为因素的联合治疗。在提出的病例中,LLLT被纳入更广泛的治疗计划中作为辅助干预。虽然观察到改善,但不能仅根据这些发现来确定LLLT的贡献,需要进一步的研究来阐明其在MFS管理中的潜在作用。
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引用次数: 0
Orbitoconjunctival Myxoma: A Case Report and a Brief Literature Review. 眼眶结膜黏液瘤1例报告及简要文献复习。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-24 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S560603
Filippo Lixi, Alberto Cuccu, Lorenzo Mangoni, Claudia Tulumello, Luca Pilloni, Mihaela-Madalina Timofte-Zorila, Giuseppe Giannaccare

A 50-year-old male presented with painless swelling in the superonasal sector of his left eye that had appeared a year before and was unresponsive to topical steroids. He had a history of trauma to the affected eye two years prior to presentation. Examination revealed a 1 cm cystic neoformation in the episcleral subconjunctival area near the superonasal orbital margin, with normal ocular motility and no diplopia. Computed tomography (CT) showed a cystic formation between the anterior superomedial orbit and superolateral surface of the medial rectus muscle, without intraconal space involvement. Magnetic resonance imaging (MRI) indicated that the formation was hyperintense on T2 and hypointense on T1, with avid post-contrast enhancement and no extension into the surrounding structures. The neoformation was surgically removed by opening the conjunctiva, isolating the medial rectus muscle, and detaching the mass from uninfiltrated tissues. Histological examination, initially suspected to be a post-traumatic inclusion cyst, revealed an orbitoconjunctival atypical myxoma without signs of malignancy. Complete excision was deemed definitive therapy. Postoperative systemic and cardiac evaluation excluded additional myxomatous lesions. Six months after surgery, the patient remained recurrence-free.

一名50岁男性,左眼鼻上部无痛性肿胀,一年前出现,对局部类固醇无反应。他在发病前两年有眼部外伤史。检查发现在鼻上眶缘附近的包膜结膜下区有1厘米囊性新生物,眼球运动正常,无复视。计算机断层扫描(CT)显示在前上内侧眶和内直肌上外侧表面之间有囊性形成,未累及囊内间隙。磁共振成像(MRI)示T2高、T1低,增强明显,未向周围结构扩展。手术通过打开结膜,分离内侧直肌,将肿块与未浸润组织分离来切除新生物。组织学检查,最初怀疑是创伤后包涵性囊肿,结果显示为眼眶结膜不典型黏液瘤,无恶性征象。完全切除被认为是最终的治疗方法。术后全身和心脏评估排除了额外的黏液瘤病变。手术后6个月,患者无复发。
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引用次数: 0
First Suspected Case of Sporadic Creutzfeldt-Jakob Disease in Syria. 叙利亚发现首例散发克雅氏病疑似病例。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-22 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S576896
Hamed Tarboosh, Raghed Mansour, Noor Haidar, Pierre Ghulam, Reem Gergy, Faten Nafla

Prion diseases are rare, fatal neurodegenerative disorders caused by misfolded proteins. Sporadic Creutzfeldt-Jakob Disease (sCJD) is the most common form and develops without any identifiable triggers. This case report documents the first probable diagnosis of sCJD in Syria, involving a 72-year-old woman who presented with depressive symptoms for several months before rapidly deteriorating, and eventually succumbing to complications of the disease. Clinical examination findings, exclusion of CJD-mimicking conditions, and specific MRI findings, supported the diagnosis in the absence of biochemical tests or postmortem confirmation. This report emphasizes the challenges of diagnosing prion diseases in resource-limited settings and calls for the development of national surveillance systems in low- and middle-income countries to aid early detection, monitor the global disease burden, and reduce the risk of outbreaks. Raising awareness of prion diseases among physicians in such contexts is crucial for improving disease recognition.

朊病毒疾病是一种罕见的、致命的神经退行性疾病,由错误折叠的蛋白质引起。散发性克雅氏病(sCJD)是最常见的形式,发展没有任何可识别的诱因。本病例报告记录了叙利亚首例可能的sCJD诊断,涉及一名72岁妇女,她出现抑郁症状几个月,然后迅速恶化,最终死于疾病并发症。临床检查结果,排除模仿克雅氏病的情况,以及特定的MRI结果,支持在缺乏生化测试或尸检确认的情况下的诊断。本报告强调了在资源有限的情况下诊断朊病毒疾病的挑战,并呼吁在低收入和中等收入国家发展国家监测系统,以帮助早期发现,监测全球疾病负担,并减少暴发风险。在这种情况下,提高医生对朊病毒疾病的认识对于提高疾病认识至关重要。
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引用次数: 0
Challenges in Determining Chorionicity and Diagnosing Selective Fetal Growth Restriction in Multifetal Pregnancies with Suspected Twin-Twin Transfusion Syndrome: A Case Report. 疑为双胎输血综合征的多胎妊娠在确定绒毛膜性和诊断选择性胎儿生长受限方面的挑战:1例报告。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-20 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S561375
Amadea Ivana Hartanto, Amillia Siddiq, Dani Setiawan, Ruswana Anwar, Eunike Febe Febriani

Introduction: Chorionicity is a key determinant of perinatal outcomes in twin pregnancies, with monochorionic gestations carrying greater risks due to complications such as twin-to-twin transfusion syndrome (TTTS) and selective fetal growth restriction (sFGR). Although first-trimester ultrasound can determine chorionicity with near-perfect accuracy, assessment becomes less reliable in late gestation, increasing the risk of misclassification. Such diagnostic errors may lead to inappropriate management strategies, particularly when distinguishing between TTTS and sFGR, which require different clinical approaches.

Case presentation: A 38-year-old woman underwent routine antenatal assessment at 34-35 weeks' gestation, where ultrasound suggested a monochorionic diamniotic pregnancy with suspected TTTS based on the presence of T-sign and discordant amniotic fluid volumes. The diagnostic turning point occurred at delivery, when postnatal evaluation revealed a dichorionic diamniotic placenta, clarifying that the findings were consistent with sFGR rather than TTTS. The first neonate weighed 2610 g with a normally sized placenta (20 × 20×2 cm), while the second weighed 510 g with a markedly smaller placenta (10 × 10×1.5 cm). According to the Delphi criteria, the diagnosis of sFGR was confirmed, as the smaller twin had an estimated fetal weight below the 10th percentile and intertwin weight discordance exceeded 25%.

Conclusion: This case illustrates how late-gestation assessment of chorionicity can lead to diagnostic misclassification, resulting in management strategies that may not align with the underlying pathology. Early and regular ultrasound surveillance-ideally beginning in the first trimester and continued every 2-4 weeks-remains essential for accurate diagnosis and appropriate monitoring of complications such as TTTS and sFGR.

简介:绒毛膜性是双胎妊娠围产儿结局的关键决定因素,单绒毛膜妊娠由于双胎输血综合征(TTTS)和选择性胎儿生长受限(sFGR)等并发症而具有更大的风险。虽然孕早期超声可以以近乎完美的准确性确定绒毛膜性,但在妊娠后期评估变得不那么可靠,增加了错误分类的风险。这种诊断错误可能导致不适当的管理策略,特别是在区分TTTS和sFGR时,这需要不同的临床方法。病例介绍:一名38岁妇女在妊娠34-35周接受常规产前检查,超声提示单绒毛膜双羊膜妊娠,基于t征和羊水量不一致,怀疑TTTS。诊断的转折点发生在分娩时,当产后评估显示双绒毛膜双羊膜胎盘,澄清的结果是一致的sFGR而不是TTTS。第一个新生儿重2610克,胎盘大小正常(20 × 20×2 cm),而第二个新生儿重510克,胎盘明显较小(10 × 10×1.5 cm)。根据德尔菲标准,确诊为sFGR,因为较小的双胞胎估计胎儿体重低于第10百分位,双胞胎之间的体重不一致超过25%。结论:本病例说明了妊娠晚期绒毛膜性评估如何导致诊断错误分类,导致治疗策略可能与潜在病理不一致。早期和定期的超声监测——最好在妊娠早期开始,每2-4周持续一次——对于准确诊断和适当监测TTTS和sFGR等并发症仍然至关重要。
{"title":"Challenges in Determining Chorionicity and Diagnosing Selective Fetal Growth Restriction in Multifetal Pregnancies with Suspected Twin-Twin Transfusion Syndrome: A Case Report.","authors":"Amadea Ivana Hartanto, Amillia Siddiq, Dani Setiawan, Ruswana Anwar, Eunike Febe Febriani","doi":"10.2147/IMCRJ.S561375","DOIUrl":"10.2147/IMCRJ.S561375","url":null,"abstract":"<p><strong>Introduction: </strong>Chorionicity is a key determinant of perinatal outcomes in twin pregnancies, with monochorionic gestations carrying greater risks due to complications such as twin-to-twin transfusion syndrome (TTTS) and selective fetal growth restriction (sFGR). Although first-trimester ultrasound can determine chorionicity with near-perfect accuracy, assessment becomes less reliable in late gestation, increasing the risk of misclassification. Such diagnostic errors may lead to inappropriate management strategies, particularly when distinguishing between TTTS and sFGR, which require different clinical approaches.</p><p><strong>Case presentation: </strong>A 38-year-old woman underwent routine antenatal assessment at 34-35 weeks' gestation, where ultrasound suggested a monochorionic diamniotic pregnancy with suspected TTTS based on the presence of T-sign and discordant amniotic fluid volumes. The diagnostic turning point occurred at delivery, when postnatal evaluation revealed a dichorionic diamniotic placenta, clarifying that the findings were consistent with sFGR rather than TTTS. The first neonate weighed 2610 g with a normally sized placenta (20 × 20×2 cm), while the second weighed 510 g with a markedly smaller placenta (10 × 10×1.5 cm). According to the Delphi criteria, the diagnosis of sFGR was confirmed, as the smaller twin had an estimated fetal weight below the 10th percentile and intertwin weight discordance exceeded 25%.</p><p><strong>Conclusion: </strong>This case illustrates how late-gestation assessment of chorionicity can lead to diagnostic misclassification, resulting in management strategies that may not align with the underlying pathology. Early and regular ultrasound surveillance-ideally beginning in the first trimester and continued every 2-4 weeks-remains essential for accurate diagnosis and appropriate monitoring of complications such as TTTS and sFGR.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1649-1655"},"PeriodicalIF":0.7,"publicationDate":"2025-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12730139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145833966","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
High-Dose Biotin Supplementation Exacerbates Chronic Migraine: A Case Report. 高剂量生物素补充加重慢性偏头痛:一例报告。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-20 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S558256
Aiman Abdullah Sanosi

Chronic migraine is a complex neurological disorder that has a significant burden on patient's lives and socioeconomic outcomes, and it is difficult to manage when patients present with comorbid medication overuse headache. This research describes a case of chronic migraine persisting for 20 years, worsening following high-dose biotin supplementation. A female patient with long-standing and well-controlled classic migraine developed a two-month history of daily severe headaches. The patient experienced a significant exacerbation of headaches after initiating biotin 10,000 mcg once daily. The patient developed daily migraines unresponsive to triptans, significantly affecting her quality of life and increasing multiple emergency visits. This may be due to alteration of mitochondrial energy metabolism, which disrupts the synthesis of neurotransmitters, including serotonin pathways and increased oxidative stress and ultimately results in migraine exacerbation. Discontinuation of biotin led to improvement and return to baseline with rare and mild attacks. High-dose biotin may act as a previously unrecognized trigger for migraine exacerbation. Future studies are required to explore the exact mechanisms of high-dose biotin in triggering migraine exacerbation.

慢性偏头痛是一种复杂的神经系统疾病,对患者的生活和社会经济后果造成重大负担,当患者同时存在药物滥用性头痛时,很难控制。本研究描述了一个病例慢性偏头痛持续20年,恶化后,高剂量的生物素补充。一位患有长期控制良好的经典偏头痛的女性患者出现了两个月的每日严重头痛史。患者在每日1万微克生物素治疗后头痛明显加重。患者每日出现偏头痛,对曲坦类药物无反应,严重影响了她的生活质量,并增加了多次急诊就诊。这可能是由于线粒体能量代谢的改变,这会破坏神经递质的合成,包括血清素途径和氧化应激的增加,最终导致偏头痛加剧。停用生物素导致病情改善并恢复到基线,发作罕见且轻微。高剂量生物素可能是偏头痛恶化的一个先前未被认识到的触发因素。未来的研究需要探索高剂量生物素引发偏头痛加重的确切机制。
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引用次数: 0
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International Medical Case Reports Journal
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