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A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report. 1例罕见的2型肢端畸形伴PDE4D突变的年轻女性:1例报告。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae169
Muhammad Sheraz Hameed, Maimoona Maheen, Sauban Mansoor Sadiq, Umer Farooq, Abdur Rehman, Arham Ihtesham, Imran Khan, Shahzaib Maqbool, Javed Iqbal

Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includes disproportional short stature with short extremities and brachydactyly, multiple cone-shaped epiphyses, scoliosis or kyphosis with spinal stenosis, and advanced bone maturation. Herein, we are highlighting a case that presented with clinical features such as brachydactyly, delayed milestone, growth delay, muscle weakness and nasal hypoplasia. Patient genetic testing was in line with the diagnosis of acrodysostosis. The clinic-radiological correlation was also suggestive of the rare diagnosis of ADO.

肢端骨发育不良(ADO)是一种罕见的外周性骨发育不良,其特征是骨骼畸形、生长迟缓、身材矮小和独特的面部特征,部分原因是面部骨骼发育不全。骨骼发育不良是特殊的,包括不成比例的身材矮小,四肢短小和短指畸形,多个锥形骨骺,脊柱侧凸或脊柱后凸伴椎管狭窄,以及骨成熟程度较高。在此,我们重点报道一个临床表现为短指畸形、发育迟缓、生长迟缓、肌肉无力和鼻发育不全的病例。患者基因检测符合肢端畸形的诊断。临床与影像学的相关性也提示ADO的罕见诊断。
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引用次数: 0
Complete heart block with SARS-COV-2 infection inducing permanent pacing: a case report from a tertiary private hospital In Tanzania. 完全性心脏传导阻滞伴SARS-COV-2感染致永久性起搏1例坦桑尼亚某三级私立医院报告
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae167
Pendo Ibrahim, Clement Kabakama, Venance Wilfred, Zahra Daudi, Robert Mvungi

There is an increased risk of cardiac complications in COVID-19 among patients with pre-existing comorbidities due to their existing pro-inflammatory status. The manifestation of complete heart block has been evidenced as transient and in no need of intervention. This case presents a previously healthy woman who was diagnosed with SARS-CoV-2 infection and complete heart block; she underwent permanent dual-chamber pacemaker implantation after successful treatment and a negative COVID-19 test. She was then discharged from the hospital with an uneventful follow-up. Persistence of complete heart block symptoms post-COVID-19 resolution and the need for permanent pacing indicate a potential association between COVID-19 and complete heart block. Healthcare workers should consider electrographic examination in the initial assessment of suspected COVID-19 cases, even among those with no pre-existing conditions. This report highlights the need for further research to explore the relationship between COVID-19 and complete heart block.

在已有合并症的COVID-19患者中,由于其现有的促炎状态,心脏并发症的风险增加。完全性心脏传导阻滞的表现被证明是短暂的,不需要干预。本病例是一名先前健康的妇女,被诊断患有SARS-CoV-2感染和完全性心脏传导阻滞;治疗成功后,她接受了永久性双腔起搏器植入手术,新冠病毒检测呈阴性。随后,她顺利出院了。COVID-19消退后完全性心脏传导阻滞症状的持续存在以及需要永久性起搏表明COVID-19与完全性心脏传导阻滞之间存在潜在关联。在对疑似COVID-19病例进行初步评估时,卫生保健工作者应考虑进行电图检查,即使在没有既往疾病的患者中也是如此。该报告强调需要进一步研究COVID-19与完全性心脏传导阻滞之间的关系。
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引用次数: 0
Tick's Nest in Auditory Canal. 耳道内的蜱窝。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae160
Hann-Ziong Yueh, Shih-Chun Lu, Hung-Lun Chu, Che-Hsuan Lin
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引用次数: 0
Parkinson's disease exacerbation following Levetiracetam administration: an unusual phenomenon. 左乙拉西坦给药后帕金森病加重:一种不寻常的现象。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae174
Laila Alqahtani, Ali Alkhaibary, Farid Bouhouf

Background: Several studies have investigated the potential beneficial and side effects of levetiracetam on Parkinson's disease (PD). We hereby report a case of PD exacerbation following Levetiracetam administration for seizure prophylaxis.

Case description: A 77-year-old female, known to have PD, presented with a head injury following a fall. Brain CT showed diffuse subarachnoid hemorrhage. The patient was started on Levetiracetam for seizure prophylaxis. Four days after, the patient dropped GCS from 15 to 9. She was having progressive exacerbation of Parkinson's disease symptoms. After ruling out all possible causes of PD exacerbation, Levetiracetam was gradually weaned until it was discontinued. Consequently, the patient had rapid significant clinical improvement after discontinuation of Levetiracetam.

Conclusion: The use of Levetiracetam for seizure prophylaxis in patients with PD can rarely lead to acute exacerbation of symptoms and worst outcome. Close monitoring of patients with PD is recommended when prescribing anti-epileptics.

背景:几项研究调查了左乙拉西坦对帕金森病(PD)的潜在益处和副作用。我们在此报告一个病例PD恶化后左乙拉西坦管理预防癫痫发作。病例描述:一名77岁女性,已知患有帕金森病,在跌倒后出现头部受伤。脑部CT示弥漫性蛛网膜下腔出血。患者开始服用左乙拉西坦预防癫痫发作。四天后,患者的GCS从15降到9。她的帕金森氏症症状逐渐加重。在排除所有可能的PD加重原因后,逐渐停用左乙拉西坦直至停用。因此,患者在停用左乙拉西坦后有了快速的显著的临床改善。结论:左乙拉西坦用于PD患者的癫痫预防很少会导致症状的急性加重和最坏的结果。在处方抗癫痫药时,建议密切监测PD患者。
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引用次数: 0
Arising of autoimmune gastritis after helicobacter pylori eradication in an elderly female patient. 老年女性幽门螺杆菌根除后引起自身免疫性胃炎1例。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae178
Takayoshi Kiba, Soichiro Nose

Autoimmune gastritis (AIG) is a chronic condition in which the body's immune system mistakenly attacks the stomach lining, specifically targeting parietal cells that produce stomach acid and intrinsic factors. After the H. pylori infection was eradicated, AIG developed in an elderly woman with symptoms of the disease. 1.5 years after eradication, esophagogastroduodenoscopy revealed remnants of the oxyntic mucosa sticky adherent dense mucus and scattered minute whitish protrusions at the greater curvature of the gastric corpus. Biopsy specimens from the greater curvature site of the gastric corpus before H. pylori eradication revealed neutrophilic cells in the superficial mucosa of the stomach that were mildly inflammatory and infiltrating. With the removal of H. pylori, the number of infiltrating inflammatory neutrophilic cells in the superficial mucosa decreased, whereas that of infiltrating lymphocytes increased in the sub-superficial mucosa. This case suggests that further studies regarding the detailed time course of AIG are required.

自身免疫性胃炎(AIG)是一种慢性疾病,身体的免疫系统错误地攻击胃粘膜,特别是针对产生胃酸和内在因子的壁细胞。在幽门螺杆菌感染被根除后,AIG在一名老年妇女身上出现了这种疾病的症状。根治后1.5年,食管胃十二指肠镜检查显示胃主体大弯曲处有残余的氧合粘膜,粘连的致密粘液和分散的微小白色突起。在幽门螺杆菌根除前,胃主体大弯曲部位的活检标本显示胃浅表粘膜有轻度炎症和浸润性中性粒细胞。随着幽门螺杆菌的去除,浅表黏膜浸润性中性粒细胞数量减少,浅表次黏膜浸润性淋巴细胞数量增加。本案例提示,对AIG的具体时间进程还需进一步研究。
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引用次数: 0
Crush syndrome after the Marrakesh earthquake: a case report and review of the literature. 马拉喀什地震后挤压综合征一例报告及文献复习。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae175
Ali Zidouh, Tarek Tebib, Othmane Salmi, Hanane Mourouth, Amra Ziadi

Crush trauma of extremities, resulting from a crushing force, can be life-threatening even without involving vital organs. Crush syndrome, or traumatic rhabdomyolysis, occurs when muscle cell breakdown releases contents into the bloodstream, leading to systemic complications like acute renal failure. A 35-year-old woman trapped under rubble during11 hours during a seismic event, presenting with compartment syndrome in her left arm and thigh and crush syndrome. Emergent fasciotomy and aggressive fluid resuscitation were performed, preventing renal failure and metabolic derangement. Post-fasciotomy, pulses returned to her affected limbs. She was extubated and moved to the ICU under close surgical supervision. Early, aggressive resuscitation is critical, ideally before extrication, to minimize complications. Awareness of hyperkalemia and acute renal failure risk post-extrication is essential. Continuous fluid resuscitation is the cornerstone of treatment, and prompt fasciotomies are crucial for compartment syndrome management.

四肢挤压创伤是由挤压力造成的,即使不涉及重要器官,也可能危及生命。挤压综合征,或外伤性横纹肌溶解,发生时,肌肉细胞分解释放内容物进入血液,导致全身性并发症,如急性肾功能衰竭。一名35岁妇女在地震中被困在废墟下11个小时,表现为左臂和大腿筋膜室综合征和挤压综合征。实施了紧急筋膜切开术和积极的液体复苏,防止肾功能衰竭和代谢紊乱。筋膜切开术后,脉搏恢复到患肢。在严密的外科监护下,她拔管并转移到重症监护室。早期,积极的复苏是至关重要的,最好是在取出之前,以尽量减少并发症。意识到高钾血症和急性肾功能衰竭的风险是必不可少的。持续的液体复苏是治疗的基石,及时的筋膜切开术对筋膜室综合征的治疗至关重要。
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引用次数: 0
Concurrent presentation of acute lymphoblastic leukemia and bullous pemphigoid: a rare case report. 急性淋巴细胞白血病和大疱性类天疱疮同时出现:罕见病例报告。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae173
Yusuf Haz Condeng, Rahmawati Minhajat, Andi Makbul Aman, Haerani Rasyid, Syakib Bakri, Harun Iskandar

Historically, adolescents and young adults diagnosed with acute lymphoblastic leukemia (ALL) have faced lower survival rates compared to children with the same illness. Bullous pemphigoid (BP), a rare autoimmune skin disorder, poses unique challenges when occurring alongside hematologic malignancies. A 23-year-old male with ALL-L1 diagnosis who developed bullous pemphigoid in this report. The patient exhibited typical ALL-L1 symptoms, including constitutional manifestations and signs of bone marrow compromise. Dermatological assessment revealed extensive edematous urticaria-like plaques, erosions, excoriations, crusts, and a hemorrhagic bulla. Severe thrombocytopenia was evident in laboratory tests, with histopathological examination confirming bullous pemphigoid. Despite aggressive treatment, including platelet transfusions, the patient's condition worsened. This case emphasizes the critical need for timely diagnosis and intervention in patients with concurrent hematologic and dermatologic conditions, as mortality rates may surpass those in BP patients without comorbidities.

从历史上看,与患有相同疾病的儿童相比,被诊断患有急性淋巴细胞白血病(ALL)的青少年和年轻人的存活率较低。大疱性类天疱疮(BP)是一种罕见的自身免疫性皮肤病,当与血液系统恶性肿瘤一起发生时,会带来独特的挑战。一例23岁男性ALL-L1诊断为大疱性类天疱疮。患者表现出典型的ALL-L1症状,包括体质表现和骨髓受损的迹象。皮肤病学评估显示广泛的荨麻疹样水肿斑块、糜烂、擦伤、结痂和出血性大疱。严重的血小板减少症在实验室检查中是明显的,组织病理学检查证实大疱性类天疱疮。尽管进行了包括输血小板在内的积极治疗,病人的病情还是恶化了。该病例强调了及时诊断和干预合并血液病和皮肤病患者的必要性,因为死亡率可能超过无合并症的BP患者。
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引用次数: 0
Severe cases of local cytokine release syndrome (CRS); craniocervical edema soon after chimeric antigen T-cell (CAR-T) therapy. 局部细胞因子释放综合征(CRS)重症病例;嵌合抗原t细胞(CAR-T)治疗后不久出现颅颈水肿。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae164
Naokazu Nakamura, Tomoyasu Jo, Yasuyuki Arai, Toshio Kitawaki, Momoko Nishikori, Chisaki Mizumoto, Junya Kanda, Kouhei Yamashita, Miki Nagao, Akifumi Takaori-Kondo

Craniocervical edema appears soon after chimeric antigen receptor T-cell (CAR-T) therapy in some cases. This phenomenon is often observed right after systemic cytokine release syndrome (CRS), and it is called local CRS (L-CRS). In severe cases, L-CRS causes airway obstruction and asphyxia, but it is not yet well known among hematologists. In this report, we present mild and severe cases of L-CRS. Tocilizumab might have limited efficacy against L-CRS, and early administration of corticosteroids can be important. We hope that this case report raises awareness of L-CRS as an acute-onset adverse event after CAR-T therapy.

在一些病例中,嵌合抗原受体t细胞(CAR-T)治疗后很快出现颅颈水肿。这种现象常发生在全身细胞因子释放综合征(CRS)后,称为局部CRS (L-CRS)。在严重的情况下,L-CRS引起气道阻塞和窒息,但在血液学家中尚不清楚。在本报告中,我们提出轻度和重度L-CRS病例。托珠单抗对L-CRS的疗效可能有限,早期给药皮质类固醇可能很重要。我们希望这一病例报告能提高人们对L-CRS作为CAR-T治疗后急性不良事件的认识。
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引用次数: 0
Transient right bundle branch block (RBBB) and S1Q3T3 in a transit passenger due to acute pulmonary embolism- a case report. 急性肺栓塞致过境旅客短暂性右束分支阻滞(RBBB)和S1Q3T3 1例报告
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae165
Haris Iftikhar, Doaa Sabir, Mavia Najam, Ahmed Noor, Shahzad Anjum

Intermittent or transient right bundle branch block (RBBB) can occur in various clinical situations but is rarely described in acute pulmonary embolism. We present a unique case involving a 57-year-old male who experienced a syncopal episode during transit. He displayed signs of a transient right bundle branch block (RBBB) and S1Q3T3 on the initial EMS ECG, which reverted to normal ECG later. This case highlights the significance of recognizing transient RBBB and S1Q3T3 patterns as potential markers of acute PE. Anticoagulation therapy is the mainstay of PE treatment, but other modalities like thrombolysis and surgical embolectomy can be used in selected cases.

间歇性或短暂性右束分支阻滞(RBBB)可发生在各种临床情况下,但在急性肺栓塞中很少被描述。我们提出一个独特的情况下,涉及一个57岁的男性谁经历了晕厥发作过境。患者在初始EMS心电图上显示短暂性右束分支阻滞(RBBB)和S1Q3T3体征,随后恢复正常。该病例强调了识别瞬时RBBB和S1Q3T3模式作为急性PE潜在标志物的重要性。抗凝治疗是PE治疗的主要方法,但在某些情况下也可以采用其他方式,如溶栓和手术栓塞切除术。
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引用次数: 0
Disseminated fungal infection with Saprochaete capitata in acute myeloid leukemia patient: a case report from a developing country. 发展中国家急性髓性白血病患者弥散性头孢霉感染1例。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-18 eCollection Date: 2025-01-01 DOI: 10.1093/omcr/omae176
Mamoun W Sweileh, Ayman Dawoud, Razan Malhis, Banan M Aiesh

Background: Saprochaete capitata may cause fatal infections in immunocompromised patients. This is the first case report of invasive Saprochaete capitate infection at an academic-tertiary care center in Palestine.

Case presentation: We report a 36-year-old woman who presented with fever and severe neutropenia and was found to have AML/Non M3. While receiving her initial chemotherapy treatment, she encountered a rare fungal infection (Saprochaete capitata) that spread throughout her lungs, stomach, spleen, liver, and kidneys, presenting difficulties in both diagnosing and treatment. In addition to being treated with both voriconazole and amphotericin B, the patient underwent surgery to remove the infection source, resulting in a cure.

Conclusion: In immunocompromised patients, Saprochaete capitata infection is frequently overlooked. It is essential to give antifungal combinations and to control the source of infection to enhance the outcome for patients.

背景:在免疫功能低下的患者中,头臭毛菌可能引起致命的感染。这是巴勒斯坦学术三级保健中心的第一例侵袭性头状腐毛菌感染报告。病例介绍:我们报告了一名36岁的女性,她表现为发烧和严重的中性粒细胞减少症,并被发现患有AML/Non M3。在接受最初的化疗治疗时,她遇到了一种罕见的真菌感染,这种真菌感染扩散到她的肺、胃、脾、肝和肾,诊断和治疗都很困难。除了使用伏立康唑和两性霉素B治疗外,患者还接受了手术以去除感染源,最终治愈。结论:在免疫功能低下的患者中,头臭毛菌感染常被忽视。必须给予抗真菌药物组合,并控制感染源,以提高患者的预后。
{"title":"Disseminated fungal infection with <i>Saprochaete capitata</i> in acute myeloid leukemia patient: a case report from a developing country.","authors":"Mamoun W Sweileh, Ayman Dawoud, Razan Malhis, Banan M Aiesh","doi":"10.1093/omcr/omae176","DOIUrl":"10.1093/omcr/omae176","url":null,"abstract":"<p><strong>Background: </strong><i>Saprochaete capitata</i> may cause fatal infections in immunocompromised patients. This is the first case report of invasive <i>Saprochaete capitate</i> infection at an academic-tertiary care center in Palestine.</p><p><strong>Case presentation: </strong>We report a 36-year-old woman who presented with fever and severe neutropenia and was found to have AML/Non M3. While receiving her initial chemotherapy treatment, she encountered a rare fungal infection (<i>Saprochaete capitata</i>) that spread throughout her lungs, stomach, spleen, liver, and kidneys, presenting difficulties in both diagnosing and treatment. In addition to being treated with both voriconazole and amphotericin B, the patient underwent surgery to remove the infection source, resulting in a cure.</p><p><strong>Conclusion: </strong>In immunocompromised patients, <i>Saprochaete <i>capitata</i></i> infection is frequently overlooked. It is essential to give antifungal combinations and to control the source of infection to enhance the outcome for patients.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 1","pages":"omae176"},"PeriodicalIF":0.5,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748307/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013609","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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Oxford Medical Case Reports
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