Annals of Medicine and Surgery最新文献

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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
Annals of Medicine and Surgery 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
{"title":"Protein-losing enteropathy as the first presentation of systemic lupus erythematosus the first case reported in Palestine with systemic review.","authors":"Amal Abu Jheasha, Tasneem Alsharif, Raghad Alwahsh, Ahmad Abumunshar, Rawand Al-Ardah, Abdelwadod Abuturki","doi":"10.1097/MS9.0000000000002733","DOIUrl":"10.1097/MS9.0000000000002733","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Importance: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Clinical discussion: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"7458-7464"},"PeriodicalIF":1.7,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142798910","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
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
Annals of Medicine and Surgery 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
{"title":"Precipitate, preterm labor in acute organophosphate poisoning in pregnancy: a case report.","authors":"Rosy Shah, Amrit Pokhrel, Anil Shrestha, Saroj Shrestha, Amrita Sah, Raj Shah","doi":"10.1097/MS9.0000000000002721","DOIUrl":"10.1097/MS9.0000000000002721","url":null,"abstract":"<p><strong>Introduction: </strong>Acute organophosphorus poisoning (AOPP) during pregnancy is uncommon. When complicated by preterm labor, it presents therapeutic dilemmas due to the lack of established guidelines.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Discussion: </strong>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.</p><p><strong>Conclusion: </strong>This case underscores the importance of vigilance and frequent clinical examinations in patients with AOPP to identify subtle early signs of potential complications.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"7454-7457"},"PeriodicalIF":1.7,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623850/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799283","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
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
Annals of Medicine and Surgery 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
{"title":"Is fascia lata a viable graft for MPFL reconstruction? An overview of surgical technique and scoping literature review.","authors":"Dimitrios Zachariou, Panagiotis Karampinas, Iordanis Varsamos, Athanasios Galanis, Michail Vavourakis, Ioannis Spyrou, Evangelos Sakellariou, Christos Patilas, Georgios Tsalimas, Angelos Kaspiris, John Vlamis, Spiros Pneumaticos","doi":"10.1097/MS9.0000000000002731","DOIUrl":"10.1097/MS9.0000000000002731","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"7299-7304"},"PeriodicalIF":1.7,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799297","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
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
Annals of Medicine and Surgery 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
{"title":"Combined coronary artery bypass grafting and orthopedic fixation in a patient with multiple comorbidities: a case report.","authors":"Noor Natsha, Roua Najjar, Haya J M Warasna, Mohammad Y H Awad, Baha Alhadad, Bisher Marzouqa, Murad Qabaja","doi":"10.1097/MS9.0000000000002719","DOIUrl":"10.1097/MS9.0000000000002719","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Discussion: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"7436-7443"},"PeriodicalIF":1.7,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799006","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
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
Annals of Medicine and Surgery Pub Date : 2024-11-13 eCollection Date: 2024-12-01 DOI: 10.1097/MS9.0000000000002711
Yucheng Zhang, Tao Bao
{"title":"Global research status and frontiers on autophagy in hepatocellular carcinoma: a comprehensive bibliometric and visualized analysis.","authors":"Yucheng Zhang, Tao Bao","doi":"10.1097/MS9.0000000000002711","DOIUrl":"10.1097/MS9.0000000000002711","url":null,"abstract":"","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"7484-7485"},"PeriodicalIF":1.7,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799256","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
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
Annals of Medicine and Surgery 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
{"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
Annals of Medicine and Surgery 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
{"title":"Enhancing survival in cardiac arrest: the urgent need for optimized extracorporeal cardiopulmonary resuscitation implementation and protocols - editorial.","authors":"Aiman Waheed, Muhammad H Gul, Risha Naeem, Hafsa Arshad Azam Raja, Abdul B Wardak, Umer Khan","doi":"10.1097/MS9.0000000000002740","DOIUrl":"10.1097/MS9.0000000000002740","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"6926-6929"},"PeriodicalIF":1.7,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799225","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
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
Annals of Medicine and Surgery 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
{"title":"Advancements in PNH treatment: crovalimab's clinical efficacy.","authors":"Eisha Shoaib, Filzah Imam, Mahnoor Khan, Mohammed H Jaber Amin","doi":"10.1097/MS9.0000000000002706","DOIUrl":"10.1097/MS9.0000000000002706","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"6921-6922"},"PeriodicalIF":1.7,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799067","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
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
Annals of Medicine and Surgery 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
{"title":"A rare case of left transverse testicular ectopia in an adult.","authors":"Suraj Keshari, Archana Pandey, Abiral Subedi, Rohit B Shrestha, Priyanka Panta, Manisha Aryal, Ishwor Paudel, Abhishek Pandey, Prasamsa Pande","doi":"10.1097/MS9.0000000000002747","DOIUrl":"10.1097/MS9.0000000000002747","url":null,"abstract":"<p><strong>Introduction and importance: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Clinical discussion: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"7474-7477"},"PeriodicalIF":1.7,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142798998","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
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
Annals of Medicine and Surgery 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
{"title":"Bart syndrome with musculoskeletal deformity: a rare case report.","authors":"Sanish Pokhrel, Zenish Niraula, Pradip Ghimire, Sugam Ale Magar, Ashish Acharya, Kiran Awal","doi":"10.1097/MS9.0000000000002732","DOIUrl":"10.1097/MS9.0000000000002732","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Discussion: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"86 12","pages":"7465-7468"},"PeriodicalIF":1.7,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799096","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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