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Protein-losing enteropathy as the first presentation of systemic lupus erythematosus the first case reported in Palestine with systemic review. 蛋白质丢失性肠病作为系统性红斑狼疮的首次表现,这是巴勒斯坦报道的第一例系统性回顾。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-14 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002733
Amal Abu Jheasha, Tasneem Alsharif, Raghad Alwahsh, Ahmad Abumunshar, Rawand Al-Ardah, Abdelwadod Abuturki

Introduction: Systemic lupus erythematosus is a chronic inflammatory disease affecting women, causing gastrointestinal issues like acute pancreatitis, esophagitis, and protein-losing enteropathy. Protein loss is uncommon, but a case study shows protein-losing enteropathy as a first sign.

Importance: Protein-losing enteropathy (PLE) is a rare gastrointestinal manifestation of SLE, often seen years before diagnosis. Suspecting hypoalbuminemia without protein loss is crucial, but diagnosis is challenging due to imaging and histological findings.

Case presentation: A 22-year-old woman with epigastric pain experienced sudden abdominal pain, vomiting, and arthralgia. An abdominal CT scan revealed moderate bilateral hydronephrosis, pelvic free fluid, a kidney stone, and a cyst. Laboratory tests showed normal hemoglobin levels, platelets, white blood cells, C-reactive protein, and ESR. Diagnosis of SLE was confirmed, and pulse steroid therapy and hydroxychloroquine were initiated. Severe ascites required pigtail insertion, and ceftazidime was added. The patient's condition improved, and she was discharged with regular follow-ups.

Clinical discussion: A 22-year-old female was diagnosed with protein-losing enteropathy, a rare gastrointestinal manifestation of systemic lupus erythematosus (SLE). The disease is divided into mesenteric vasculitis, pseudo-obstruction, and protein loss enteropathy. The patient also had severe enteritis, abdominal pain, nausea, and diarrhea. The study found that the main complaint was abdominal pain with dysphagia, mainly due to active SLE inflammation. The patient responded well to treatment, with a 62.5% rapid improvement in pulse steroids and a cure for underlying causes through DMARDS or immunosuppressant drugs.

Conclusions: The case presents a rare SLE diagnosis with gastrointestinal involvement, pleural effusion, and progressive swelling. Despite correct diagnosis and aggressive treatment, clinical improvement occurred, requiring high clinical suspicion.

简介:系统性红斑狼疮是一种影响女性的慢性炎症性疾病,可引起胃肠道问题,如急性胰腺炎、食管炎和蛋白质丢失性肠病。蛋白质丢失是不常见的,但一个案例研究显示蛋白质丢失性肠病是第一个迹象。重要性:蛋白质丢失性肠病(PLE)是SLE中一种罕见的胃肠道表现,常在诊断前数年出现。怀疑无蛋白损失的低白蛋白血症至关重要,但由于影像学和组织学发现,诊断具有挑战性。病例介绍:一名22岁的女性,腹痛,突然腹痛,呕吐和关节痛。腹部CT扫描显示中度双侧肾积水、盆腔游离液、肾结石和囊肿。实验室检查显示血红蛋白、血小板、白细胞、c反应蛋白和血沉正常。确诊为SLE,并开始脉搏类固醇治疗和羟氯喹治疗。严重腹水需要扎尾辫,并添加头孢他啶。患者病情好转,经定期随访出院。临床讨论:一位22岁的女性被诊断为蛋白质丢失性肠病,这是一种罕见的系统性红斑狼疮(SLE)的胃肠道表现。该病分为肠系膜血管炎、假性梗阻和蛋白质丢失性肠病。患者还伴有严重的肠炎、腹痛、恶心和腹泻。研究发现,主要主诉为腹痛伴吞咽困难,主要由活动性SLE炎症引起。患者对治疗反应良好,脉冲类固醇快速改善62.5%,并通过DMARDS或免疫抑制药物治愈了潜在原因。结论:该病例表现为罕见的系统性红斑狼疮,伴胃肠道受累、胸腔积液和进行性肿胀。尽管有正确的诊断和积极的治疗,临床出现了改善,需要高度的临床怀疑。
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引用次数: 0
Precipitate, preterm labor in acute organophosphate poisoning in pregnancy: a case report. 妊娠期急性有机磷中毒所致沉淀、早产1例。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-14 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002721
Rosy Shah, Amrit Pokhrel, Anil Shrestha, Saroj Shrestha, Amrita Sah, Raj Shah

Introduction: Acute organophosphorus poisoning (AOPP) during pregnancy is uncommon. When complicated by preterm labor, it presents therapeutic dilemmas due to the lack of established guidelines.

Case presentation: The authors describe a case of a 19-year-old primigravida at 33 weeks of gestation with AOPP. During her treatment, she unexpectedly experienced preterm, precipitate labor, resulting in the delivery of a live, healthy baby.

Discussion: Late-pregnancy exposure to organophosphates may trigger preterm labor through receptor hyperstimulation from excess acetylcholine, causing premature contractions. Atropine, progesterone, and magnesium sulfate may help manage these effects.

Conclusion: This case underscores the importance of vigilance and frequent clinical examinations in patients with AOPP to identify subtle early signs of potential complications.

妊娠期急性有机磷中毒(AOPP)并不常见。当早产并发症时,由于缺乏既定的指导方针,它提出了治疗难题。病例介绍:作者描述了一个19岁的初产妇在33周妊娠与AOPP的情况。在她的治疗期间,她意外地经历了早产,早产,导致一个健康的婴儿出生。讨论:妊娠后期暴露于有机磷可通过过量乙酰胆碱对受体的过度刺激引发早产,引起宫缩过早。阿托品、黄体酮和硫酸镁可能有助于控制这些影响。结论:本病例强调了警惕和频繁的临床检查对AOPP患者的重要性,以发现潜在并发症的细微早期迹象。
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引用次数: 0
Is fascia lata a viable graft for MPFL reconstruction? An overview of surgical technique and scoping literature review. 阔筋膜是强腓骨韧带重建可行的移植物吗?手术技术综述及手术范围的文献回顾。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-14 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002731
Dimitrios Zachariou, Panagiotis Karampinas, Iordanis Varsamos, Athanasios Galanis, Michail Vavourakis, Ioannis Spyrou, Evangelos Sakellariou, Christos Patilas, Georgios Tsalimas, Angelos Kaspiris, John Vlamis, Spiros Pneumaticos

Lateral patellar dislocation is irrefutably one of the most common knee injuries, while subsequent medial patellofemoral ligament (MPFL) damage requires proper orthopedic care. Treatment of these injuries is regularly associated with the need for MPFL reconstruction surgery. This operation, often in combination with other procedures, can result very fruitful in restoring knee kinematics. There is a considerable variety of options for the orthopedic surgeon to choose from regarding graft selection when performing MPFL reconstruction surgery, including the semitendinosus tendon, the gracilis, and others. Notwithstanding, utilizing the fascia lata as an autograft or allograft for MPFL reconstruction has emerged as a promising alternative. Perusing the existing literature, not any review paper could be found examining the efficacy of fascia lata as a MPFL reconstruction graft. As a result, a thorough search was conducted in various databases to investigate and explore the studies analyzing this type of MPFL reconstruction surgery. The number of papers scrutinizing this operation was exceedingly narrow. However, out of these studies, it can be concluded that opting for fascia lata grafts when executing MPFL reconstruction surgery features some considerable advantages, involving similar biomechanics to the native MPFL, no hamstrings damage and quicker rehabilitation among others. This paper accentuates the requirement for considering fascia lata as a viable graft option in MPFL reconstruction surgery and the necessity for more pertinent research in order to attain more reliable inferences.

外侧髌骨脱位无疑是最常见的膝关节损伤之一,而随后的内侧髌股韧带(MPFL)损伤需要适当的骨科护理。这些损伤的治疗通常需要进行MPFL重建手术。这种手术通常与其他手术相结合,在恢复膝关节运动学方面效果非常好。在进行MPFL重建手术时,骨科医生在移植物选择方面有相当多的选择,包括半腱肌腱、股薄肌等。尽管如此,利用阔筋膜作为自体或同种异体移植物重建MPFL已成为一种很有前途的选择。阅读现有的文献,没有任何评论文章可以发现阔筋膜作为MPFL重建移植物的疗效。因此,我们在各种数据库中进行了彻底的搜索,以调查和探讨分析这种MPFL重建手术的研究。报道这一行动的报纸寥寥无几。然而,在这些研究中,我们可以得出结论,在执行MPFL重建手术时选择阔筋膜移植物具有相当大的优势,包括与原始MPFL相似的生物力学,无腘绳肌损伤和更快的康复等。本文强调了考虑阔筋膜作为MPFL重建手术中可行的移植物选择的必要性,以及为获得更可靠的结论而进行更相关研究的必要性。
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引用次数: 0
Combined coronary artery bypass grafting and orthopedic fixation in a patient with multiple comorbidities: a case report. 合并冠状动脉旁路移植术和骨科固定术治疗多重合并症1例。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-14 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002719
Noor Natsha, Roua Najjar, Haya J M Warasna, Mohammad Y H Awad, Baha Alhadad, Bisher Marzouqa, Murad Qabaja

Background: Coronary artery disease is a prevalent cardiovascular condition and the leading cause of morbidity and mortality worldwide. The management of orthopedic injuries requiring surgical fixation is particularly complex in patients with comorbidities such as diabetes mellitus and hypertension (HTN). Coordinating the sequence, timing, and execution of coronary artery bypass grafting (CABG) and orthopedic fixation requires careful consideration of the patient's overall health, surgical risks, and recovery potential.

Case presentation: A 55-year-old male presented with a right distal tibial fracture following a fall. His medical history included HTN, type 2 diabetes mellitus, and Kyrle's skin disease. During his hospital stay, he was diagnosed with non-ST-segment elevation myocardial infarction. Severe multivessel Coronary artery disease was confirmed by catheterization. After interdisciplinary consultation, simultaneous CABG and open reduction and internal fixation of the tibial fracture were performed. He was discharged in good condition and showed positive recovery during a 1-month follow-up.

Discussion: This case highlights the complexities of managing patients with multiple comorbidities who require both cardiac and orthopedic surgeries. This simultaneous approach allows for efficient treatment, leading to a shorter hospital stay and recovery period. This report supports the feasibility and benefits of simultaneous surgery in complex clinical scenarios, although further studies are required to establish broader guidelines.

Conclusion: Our case emphasizes the importance of a multidisciplinary approach for managing patients with multiple comorbidities who require concurrent surgical intervention. Preoperative planning and speciality coordination ensured optimal outcomes. Further research is needed to develop standardized guidelines for intraoperative care of patients undergoing simultaneous procedures.

背景:冠状动脉疾病是一种常见的心血管疾病,也是世界范围内发病率和死亡率的主要原因。对于合并糖尿病和高血压(HTN)等合并症的患者,需要手术固定的骨科损伤的处理尤其复杂。协调冠状动脉旁路移植术(CABG)和矫形固定的顺序、时机和执行需要仔细考虑患者的整体健康状况、手术风险和恢复潜力。病例介绍:一名55岁男性在跌倒后出现右侧胫骨远端骨折。病史包括HTN、2型糖尿病和凯尔氏皮肤病。在住院期间,他被诊断为非st段抬高型心肌梗死。重症冠状动脉多支病变经导管检查证实。经多学科会诊,同时行CABG和胫骨骨折切开复位内固定。患者出院时情况良好,随访1个月后恢复良好。讨论:本病例强调了管理同时需要心脏和骨科手术的多重合并症患者的复杂性。这种同时进行的方法可以有效地治疗,缩短住院时间和恢复期。该报告支持在复杂的临床情况下同时手术的可行性和益处,尽管需要进一步的研究来建立更广泛的指导方针。结论:我们的病例强调了多学科方法对于管理需要同时手术干预的多种合并症患者的重要性。术前计划和专业协调确保了最佳结果。需要进一步的研究来为同时进行手术的患者制定标准化的术中护理指南。
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引用次数: 0
Global research status and frontiers on autophagy in hepatocellular carcinoma: a comprehensive bibliometric and visualized analysis. 肝细胞癌中自噬的全球研究现状及前沿:综合文献计量和可视化分析。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-13 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002711
Yucheng Zhang, Tao Bao
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引用次数: 0
Summary of the best evidence for vocal rehabilitation training in adults with unilateral vocal fold paralysis. 单侧声带麻痹成人声乐康复训练的最佳证据摘要。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-13 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002722
Caihong Tang, Xinxin Zhang, Hong He, Lingling Jing, Wangyang Tuo, Yulan Shi

Purpose: To search, evaluate, and summarize the relevant evidence of voice rehabilitation training in adults with unilateral vocal fold paralysis (UVFP).

Methods: Using the '6S' model, the database of UpToDate, BMJ Best Practice, domestic and foreign guidelines, and voice rehabilitation training for adults with UVFP were systematically searched. The search includes clinical decisions, guidelines, systematic reviews, randomized controlled trials, and expert consensus. Data search since the establishment of the database to 27 November 2023. The quality evaluation of the literature methodology and the extraction and integration of evidence were carried out independently by two researchers.

Results: A total of 12 literature were included, including 2 systematic reviews, 2 expert consensus, 4 guidelines, 2 clinical decisions, and 2 randomized controlled trials. Four categories of 16 pieces of evidence were summarized: evaluation of vocal cord paralysis, voice rehabilitation training, health education, joint decision-making, and multidisciplinary cooperation.

Conclusion: This study summarized the best evidence of voice rehabilitation training for adults with UVFP and provided evidence-based summary for clinical staff to carry out relevant interventions.

目的:寻找、评价和总结单侧声带麻痹(UVFP)成人语音康复训练的相关证据。方法:采用“6S”模型,系统检索UpToDate数据库、BMJ Best Practice数据库、国内外指南数据库、成人UVFP语音康复训练数据库。检索包括临床决策、指南、系统评价、随机对照试验和专家共识。检索自数据库建立至2023年11月27日的数据。文献方法学的质量评价和证据的提取与整合由两位研究者独立完成。结果:共纳入文献12篇,其中系统综述2篇,专家共识2篇,指南4篇,临床决策2篇,随机对照试验2篇。总结了4类16条证据:声带麻痹评价、语音康复训练、健康教育、联合决策、多学科合作。结论:本研究总结了成人UVFP语音康复训练的最佳证据,为临床工作人员开展相关干预提供循证总结。
{"title":"Summary of the best evidence for vocal rehabilitation training in adults with unilateral vocal fold paralysis.","authors":"Caihong Tang, Xinxin Zhang, Hong He, Lingling Jing, Wangyang Tuo, Yulan Shi","doi":"10.1097/MS9.0000000000002722","DOIUrl":"10.1097/MS9.0000000000002722","url":null,"abstract":"<p><strong>Purpose: </strong>To search, evaluate, and summarize the relevant evidence of voice rehabilitation training in adults with unilateral vocal fold paralysis (UVFP).</p><p><strong>Methods: </strong>Using the '6S' model, the database of UpToDate, BMJ Best Practice, domestic and foreign guidelines, and voice rehabilitation training for adults with UVFP were systematically searched. The search includes clinical decisions, guidelines, systematic reviews, randomized controlled trials, and expert consensus. Data search since the establishment of the database to 27 November 2023. The quality evaluation of the literature methodology and the extraction and integration of evidence were carried out independently by two researchers.</p><p><strong>Results: </strong>A total of 12 literature were included, including 2 systematic reviews, 2 expert consensus, 4 guidelines, 2 clinical decisions, and 2 randomized controlled trials. Four categories of 16 pieces of evidence were summarized: evaluation of vocal cord paralysis, voice rehabilitation training, health education, joint decision-making, and multidisciplinary cooperation.</p><p><strong>Conclusion: </strong>This study summarized the best evidence of voice rehabilitation training for adults with UVFP and provided evidence-based summary for clinical staff to carry out relevant interventions.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"7270-7277"},"PeriodicalIF":1.7,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799171","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
Enhancing survival in cardiac arrest: the urgent need for optimized extracorporeal cardiopulmonary resuscitation implementation and protocols - editorial. 提高心脏骤停的存活率:迫切需要优化体外心肺复苏的实施和方案-编辑。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-13 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002740
Aiman Waheed, Muhammad H Gul, Risha Naeem, Hafsa Arshad Azam Raja, Abdul B Wardak, Umer Khan

Extracorporeal CPR (ECPR) involves venoarterial extracorporeal membrane oxygenation (VA-ECMO) in patients with sudden and unexpected pulse loss due to heart-stopping mechanical activity. ECPR in patients with cardiac arrest has been shown to significantly improve the prognosis. In emergency rooms, interdisciplinary coordination exists among emergency medicine, cardiology, critical care, and perfusion technology. However, some problems must be solved, such as excessive costs, resource allocation, and the need for specialized equipment. Resuscitation success and patient outcomes can be enhanced by combining ECPR and emergency care.

体外心肺复苏术(ECPR)涉及静脉-动脉体外膜氧合(VA-ECMO),用于因心脏停止机械活动而突然和意外脉搏丧失的患者。心脏骤停患者的ECPR已被证明可显著改善预后。在急诊室,急诊医学、心脏病学、重症监护和灌注技术之间存在着跨学科的协调。然而,一些问题必须解决,如成本过高,资源分配,需要专门的设备。结合ECPR和急诊护理可提高复苏成功率和患者预后。
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引用次数: 0
Advancements in PNH treatment: crovalimab's clinical efficacy. 治疗PNH的进展:克罗伐单抗的临床疗效。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-13 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002706
Eisha Shoaib, Filzah Imam, Mahnoor Khan, Mohammed H Jaber Amin

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening hematologic disease that is characterized by the destruction of red blood cells, leading to a range of severe symptoms and complications. Recent advancements in drug therapies have significantly improved the prognosis for PNH patients. This editorial comprises the impact of PNH drugs, focusing on eculizumab and ravulizumab and comparing them to the recently approved complement inhibitor, crovalimab, which targets the complement system to prevent hemolysis. The discussion includes an analysis of clinical trial data and patient outcomes. The editorial mainly addresses emerging therapies, like crovalimab, that promise to offer more comprehensive, complete blockage of the complement system and low-dose solutions, reducing the treatment hassle while simultaneously appealing to a wider range of patients.

阵发性夜间血红蛋白尿(PNH)是一种罕见的、危及生命的血液病,其特征是红细胞被破坏,导致一系列严重症状和并发症。药物治疗的最新进展显著改善了PNH患者的预后。这篇社论包括PNH药物的影响,重点是eculizumab和ravulizumab,并将它们与最近批准的补体抑制剂crovalimab进行比较,crovalimab针对补体系统防止溶血。讨论包括对临床试验数据和患者结果的分析。这篇社论主要讨论了新兴疗法,如crovalimab,它们有望提供更全面、更完全的补体系统阻断和低剂量解决方案,减少治疗麻烦,同时吸引更广泛的患者。
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引用次数: 0
A rare case of left transverse testicular ectopia in an adult. 成人左睾丸横位异位1例。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-13 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002747
Suraj Keshari, Archana Pandey, Abiral Subedi, Rohit B Shrestha, Priyanka Panta, Manisha Aryal, Ishwor Paudel, Abhishek Pandey, Prasamsa Pande

Introduction and importance: Transverse testicular ectopia (TTE) is a rare congenital anomaly in which both testes descend into the same inguinal canal and are located in the same hemiscrotum. Diagnosing TTE can be challenging due to its rarity and unusual presentation.

Case presentation: The authors present a case of a male in his 50s who was diagnosed with left transverse testicular ectopia after presenting with an empty right hemiscrotum and two testes-like masses in the left hemiscrotum.

Clinical discussion: TTE usually presents with a history of an inguinal hernia and a contralateral undescended testis. However, in our case, the patient had both testes in the left hemiscrotum without an inguinal hernia, making this case even rarer.

Conclusion: Patients presenting with an empty hemiscrotum on one side and two testes-like masses on the other should be suspected of having TTE. In such cases, it is important to use imaging like USG or MRI, to identify and locate the ectopic site and assess the testicular morphology.

简介及重要性:睾丸横向异位(TTE)是一种罕见的先天性异常,其两个睾丸都进入同一腹股沟管并位于同一半阴囊内。由于其罕见和不寻常的表现,TTE的诊断具有挑战性。病例介绍:作者提出了一个50多岁的男性病例,他被诊断为左侧横向睾丸异位,在表现为右半球空和两个睾丸样肿块在左半球。临床讨论:TTE通常表现为腹股沟疝和对侧睾丸未降。然而,在我们的病例中,患者在左半球有两个睾丸,没有腹股沟疝,使得这种情况更加罕见。结论:一侧半阴囊空空如也,另一侧出现两个睾丸样肿物,应怀疑TTE。在这种情况下,重要的是使用USG或MRI等成像来识别和定位异位部位并评估睾丸形态。
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引用次数: 0
Bart syndrome with musculoskeletal deformity: a rare case report. 巴特综合征伴肌肉骨骼畸形:罕见病例报告。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-13 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002732
Sanish Pokhrel, Zenish Niraula, Pradip Ghimire, Sugam Ale Magar, Ashish Acharya, Kiran Awal

Introduction: Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB), aplasia cutis congenita, that is congenital local absence of skin and nail abnormalities.

Case presentation: The authors herein, present a case of a 14-year-old boy with Bart syndrome. The syndrome was diagnosed clinically. On examination, multiple generalized blisters were present and absence of nails in the toes of both feet and the middle finger of the left hand, which was associated with musculoskeletal deformity.

Discussion: Bart syndrome, an inherited autosomal dominant disorder, is an exceedingly rare disorder. Musculoskeletal deformity is an uncommon presentation of this syndrome. It is mostly associated with Dystrophic type of EB. It is mostly a clinical diagnosis; however, histopathological study, direct immunofluorescence, and genetic testing helps in diagnosing the type of EB.

Conclusion: The absence of skin in a localized area at birth is a crucial indicator for diagnosing Bart syndrome at birth, which later heals and can obscure the diagnosis. Early diagnosis and conservative management prevent the disease progression and complications.

Bart综合征是一种罕见的遗传性疾病,其特征是大疱性表皮松解症(EB),先天性皮肤发育不全,即先天性局部缺失皮肤和指甲异常。病例介绍:作者在此提出一个14岁男孩巴特综合征的病例。临床诊断该综合征。检查发现,双足脚趾和左手中指出现多发全身性水泡,指甲缺失,这与肌肉骨骼畸形有关。讨论:巴特综合征,一种遗传性常染色体显性遗传病,是一种极其罕见的疾病。肌肉骨骼畸形是该综合征的罕见表现。它主要与营养不良型EB相关。它主要是临床诊断;然而,组织病理学研究、直接免疫荧光和基因检测有助于诊断EB的类型。结论:出生时局部皮肤缺失是诊断出生时Bart综合征的重要指标,该指标在出生后会愈合,可能会混淆诊断。早期诊断和保守治疗可预防疾病进展和并发症。
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引用次数: 0
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