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A Case of Corneal Melting Associated with Topical Diclofenac After Phacovitrectomy for Macular Pucker in a Patient with Rheumatoid Arthritis. 类风湿性关节炎患者黄斑皱性白内障白内障玻璃体切除术后角膜融化与局部双氯芬酸相关的一例。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-11-04 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S554111
Sarah Tripodi, Emilia Maggio, Fabrizio Arena, Grazia Pertile

Introduction: Nonsteroidal anti-inflammatory drugs (NSAIDs) are widely used perioperatively and postoperatively in ocular inflammation and pain management. However, NSAIDs may cause ocular adverse effects. Postsurgical complications, including corneal stromal inflammation with or without epithelial ulceration and stromal melts, have been reported after anterior segment surgery, such as cataract surgery, penetrating keratoplasty, and photorefractive keratectomy. However, these drugs are also frequently used in vitreoretinal surgery for several indications, including the prevention and treatment of postoperative cystoid macular edema.

Case presentation: A 61-year-old man with rheumatoid arthritis, with no prior history of ocular surface disease, underwent uneventful combined phacovitrectomy in the right eye for macular pucker and cataract. Postoperatively, diclofenac 0.1% was added to the topical therapy. Within two weeks, the patient reported blurred vision and discomfort. Slit-lamp examination showed diffuse corneal edema with Descemet's membrane striae and a large epithelial defect with stromal ulceration in the inferior paracentral cornea. Best-corrected visual acuity (BCVA) dropped to counting fingers. Corneal topography revealed a wide thinning area. Diclofenac was immediately discontinued, and treatment with preservative-free dexamethasone 0.15%, ofloxacin 0.3%, and artificial tears was initiated. During follow-up, progressive improvement was observed with reduction of corneal opacity and thinning, along with recovery of BCVA. At the final visit, anterior segment OCT confirmed complete re-epithelization, a hyperreflective anterior stromal band, and mild residual thinning. BCVA improved to 20/20 with refractive correction (-3.50 sphere -3.25 cylinder axis 10).

Conclusion: Corneal melting has usually been described after anterior segment surgeries. Our case highlights the need for caution in the postoperative use of topical NSAIDs, particularly diclofenac, also in vitreoretinal surgery. Patients with autoimmune diseases, such as rheumatoid arthritis, may be at higher risk of adverse corneal effects, and careful consideration should be given when prescribing NSAIDs in this context.

非甾体类抗炎药(NSAIDs)被广泛应用于围手术期和术后的眼部炎症和疼痛管理。然而,非甾体抗炎药可能引起眼部不良反应。术后并发症,包括角膜间质炎症伴或不伴上皮溃疡和间质融化,在前节段手术(如白内障手术、穿透性角膜移植术和光屈光性角膜切除术)后已经有报道。然而,这些药物也经常用于玻璃体视网膜手术的几个指征,包括预防和治疗术后黄斑囊样水肿。病例介绍:61岁男性,类风湿关节炎,既往无眼表疾病史,因黄斑皱和白内障在右眼行了平稳的联合晶状体切除术。术后在局部治疗中加入0.1%双氯芬酸。两周内,患者报告视力模糊和不适。裂隙灯检查显示弥漫性角膜水肿伴Descemet膜纹,下中央旁角膜有大上皮缺损伴间质溃疡。最佳矫正视力(BCVA)下降到数手指。角膜地形图显示大面积变薄。双氯芬酸立即停用,并开始使用不含防腐剂0.15%的地塞米松、0.3%的氧氟沙星和人工泪液治疗。在随访期间,观察到角膜混浊和变薄的逐渐改善,以及BCVA的恢复。在最后一次就诊时,前段OCT证实完全重新上皮,前间质带高反射,轻度残余变薄。BCVA改善到20/20的折射校正(-3.50球面-3.25圆柱轴10)。结论:角膜融化常发生在前节段手术后。我们的病例强调了在玻璃体视网膜手术后局部使用非甾体抗炎药,特别是双氯芬酸时需要谨慎。患有自身免疫性疾病(如风湿性关节炎)的患者可能有较高的角膜不良反应风险,在这种情况下开非甾体抗炎药处方时应仔细考虑。
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引用次数: 0
Laparoscopic Gastrectomy with Roux-En-Y Anastomosis for Pediatric Duodenal Ulcer: A Case Report with 3-Year Follow-Up. 腹腔镜胃切除术加Roux-En-Y吻合术治疗小儿十二指肠溃疡1例,随访3年。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-11-04 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S538916
Zhijie Qin, Miao Luo, Yize Zhuang, Huang Huang, Yingming Tang

Background: While upper gastrointestinal ulcers are a common condition in adults, with well-established surgical approaches such as Billroth I, Billroth II, and Roux-en-Y (RY) reconstruction, their occurrence in the pediatric population is markedly less common and presents distinct diagnostic and management challenges. Consequently, surgical intervention for pediatric ulcers remains relatively infrequent and less studied. Although procedures like Billroth I, Billroth II, and RY are technically feasible options, there is a notable lack of robust evidence and specific guidelines to inform optimal surgical management strategies tailored specifically for children.

Case presentation: We report the treatment of a 13-year-old female patient with a duodenal bulbar ulcer leading to scar stenosis, who was managed with a laparoscopic subtotal gastrectomy and gastro-jejunal Roux-en-Y anastomosis. The patient demonstrated excellent growth and development over a three-year follow-up period, with no significant early or long-term complications.

Conclusion: Although severe complications of peptic ulcer disease (PUD) are uncommon in the pediatric population, gastric resection combined with Roux-en-Y anastomosis represents a safe and efficacious surgical strategy for refractory cases. In this report, we compare the Roux-en-Y procedure with other reconstructive methods, such as Billroth I and II, and discuss the indications and outcomes of various surgical therapies for upper gastrointestinal ulcers in children. We advocate for Roux-en-Y anastomosis as the preferred surgical method for treating complicated upper gastrointestinal ulcers in children, primarily due to its superior long-term outcomes in preventing bile reflux and residual gastritis.

背景:虽然上消化道溃疡在成人中是一种常见的疾病,但有成熟的手术方法,如Billroth I, Billroth II和Roux-en-Y (RY)重建,其在儿科人群中的发生率明显较低,并且提出了独特的诊断和管理挑战。因此,小儿溃疡的手术干预仍然相对较少,研究较少。虽然Billroth I、Billroth II和RY等手术在技术上是可行的选择,但明显缺乏有力的证据和具体的指导方针,以告知专门为儿童量身定制的最佳手术管理策略。病例介绍:我们报告了一名13岁的女性十二指肠球囊溃疡导致瘢痕性狭窄的治疗,她采用腹腔镜胃大部切除术和胃-空肠Roux-en-Y吻合术。在三年的随访期间,患者表现出良好的生长发育,没有明显的早期或长期并发症。结论:虽然消化性溃疡(PUD)的严重并发症在儿童中并不常见,但胃切除术联合Roux-en-Y吻合术对于难治性病例是一种安全有效的手术策略。在本报告中,我们比较Roux-en-Y手术与其他重建方法,如Billroth I和II,并讨论各种手术治疗儿童上消化道溃疡的适应症和结果。我们提倡Roux-en-Y吻合术作为治疗儿童复杂上消化道溃疡的首选手术方法,主要是因为其在预防胆汁反流和残余胃炎方面具有优越的长期效果。
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引用次数: 0
Atlantoaxial Spondyloptosis: Report of a Case and Review of the Literature. 寰枢椎型颈椎病1例报告及文献复习。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-31 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S542587
Seyed Reza Mousavi, Ali Kazeminezhad, Mohammadhadi Amirshahparimotlagh, Majid Reza Farrokhi, Firooz Salehpour, Jaloliddin Begidjonović Mavlonov, Seyed Ali Hosseini

Objective: To present an extremely rare case of atlantoaxial spondyloptosis in a neglected case of odontoid fracture, type-2, with complete anterior displacement. The surgical approach in such cases are always challenging.

Background: C2 fractures are the most common type of spinal traumatic injury. Among them, odontoid fracture represents the most variable and complicated C2 fractures. When non-operative management is planned, close follow-up and patient compliance are mandatory. Neglecting these cases can lead to complications such as malunion, nonunion and subluxation, of which, atlantoaxial spondyloptosis is the most severe form.

Presentation of case: The patient was a 20-year-old male with the chief complaint of neck pain, progressive quadriparesis, and gait disturbance since 8 months prior to presentation, with Japanese orthopedic association score of 11. Imaging studies showed anterior non-reducible, malunited atlantoaxial spondyloptosis, associated with a type-II odontoid fracture.

Methods: The patient underwent open reduction and posterior atlantoaxial instrumented fusion using Harm's technique. One-year Follow-up examination and imaging evaluations revealed complete neurological recovery, with Japanese orthopedic association score of 15, and complete fusion in normal alignment.

Conclusion: A posterior-only approach for the management of atlantoaxial spondyloptosis with malunited type-2 odontoid fracture is associated with lower morbidity and fewer complications than anterior or combined approaches, while still achieving all surgical goals. The integrity of the transverse ligament is mandatory in such cases.

目的:报道一例被忽视的齿状突骨折2型伴完全前移位的寰枢椎前突症。在这种情况下,手术方法总是具有挑战性的。背景:C2骨折是最常见的脊柱外伤性损伤类型。其中,齿状突骨折是最易变、最复杂的C2骨折。当计划非手术治疗时,密切的随访和患者的依从性是强制性的。忽视这些病例会导致并发症,如不愈合、不愈合和半脱位,其中最严重的是寰枢椎脊柱下垂。病例介绍:患者男性,20岁,主诉为颈痛,进行性四肢瘫,步态障碍,发病前8个月,日本骨科协会评分11分。影像学研究显示前路不可复位,寰枢椎畸形,伴ii型齿状突骨折。方法:采用harms技术行切开复位和寰枢后路固定融合术。一年的随访检查和影像学评估显示神经功能完全恢复,日本骨科协会评分为15分,正常对齐完全融合。结论:单纯后路入路治疗寰枢椎前突伴2型齿状突畸形骨折的发病率和并发症比前路或联合入路低,同时仍能达到所有手术目的。在这种情况下,横韧带的完整性是强制性的。
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引用次数: 0
Coexistence of Immune Thrombocytopenic Purpura and Bernard-Soulier Syndrome: A Rare Pediatric Case Report. 免疫性血小板减少性紫癜和Bernard-Soulier综合征共存:一个罕见的儿科病例报告。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-31 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S537936
Sondus Alsharidah, Eman Almatar, Rania Lutfi, Omnia A Hashem

Background: Immune thrombocytopenic purpura (ITP) is an autoimmune disorder characterized by low platelet counts, typically presenting with mucocutaneous bleeding. Bernard-Soulier Syndrome (BSS) is a rare inherited platelet disorder associated with thrombocytopenia, giant platelets, and impaired platelet function.

Case report: We present the case of an 8-year-old girl presenting with recurrent epistaxis, mucosal bleeding, and thrombocytopenia. Genetic analysis revealed a heterozygous germline ETV6 mutation associated with thrombocytopenia and leukemia risk, and a GP1BB mutation diagnostic of BSS. She was managed with intravenous immunoglobulin (IVIG) and corticosteroids; Eltrombopag was discontinued due of leukemic risk. The patient's platelet counts stabilized with supportive management and she remains clinically stable without recurrent severe bleeding.

Conclusion: The purpose of this case report is to illustrate the diagnostic challenges and therapeutic considerations in children with coexisting acquired (ITP) and inherited (BSS) thrombocytopenias, particularly in the presence of a leukemogenic predisposition gene (ETV6). This case underscores the importance of comprehensive genetic evaluation in guiding individualized therapy and long-term surveillance.

背景:免疫性血小板减少性紫癜(ITP)是一种以血小板计数低为特征的自身免疫性疾病,典型表现为皮肤粘膜出血。Bernard-Soulier综合征(BSS)是一种罕见的遗传性血小板疾病,与血小板减少症、巨血小板和血小板功能受损有关。病例报告:我们提出的情况下,8岁的女孩表现为复发性鼻出血,粘膜出血,和血小板减少。遗传分析显示,杂合子种系ETV6突变与血小板减少症和白血病风险相关,GP1BB突变诊断BSS。静脉注射免疫球蛋白(IVIG)和皮质类固醇;由于白血病风险,伊曲巴被停药。在支持治疗下,患者的血小板计数稳定,临床稳定,无复发性大出血。结论:本病例报告的目的是阐明获得性(ITP)和遗传性(BSS)并存的儿童血小板减少症的诊断挑战和治疗考虑,特别是在存在白血病易感基因(ETV6)的情况下。该病例强调了综合遗传评估在指导个体化治疗和长期监测中的重要性。
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引用次数: 0
Hemosuccus Pancreaticus in a 50-Year-Old Male with Chronic Pancreatitis. A Case Report. 50岁男性慢性胰腺炎出血1例。一个病例报告。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-28 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S490792
Georgina Lasoi, Faith Ameda, Rita Nassanga, Edrine Mulema, Innocent Luwaga, Kevina Etoru Anyumel

Hemosuccus pancreaticus (HP) is a rare cause of upper gastrointestinal (GI) bleeding, characterized by bleeding into the GI tract via the pancreatic duct and major papilla. It often occurs in conjunction with chronic pancreatitis and the development of pseudoaneurysms in the vessels near the pancreas. This association is attributed to the close proximity of these vessels, such as the splenic and gastroduodenal arteries, to the pancreatic parenchyma and duct, making them susceptible to pancreatic enzyme damage. The patient was a 50-year-old male with a known history of chronic alcoholism and pancreatitis who had recurrent admissions due to abdominal pain, hematemesis, melena stools, early satiety, and anemia. On admission, his hemoglobin level was 3.6 g/dL, and he exhibited deranged liver function test results. Contrast-enhanced abdominal CT done showed a complex, heterodense mass in the pancreatic head.

胰血凝血(HP)是一种罕见的上消化道出血原因,其特征是出血通过胰管和主要乳头进入胃肠道。它通常与慢性胰腺炎和胰腺附近血管假性动脉瘤的发展同时发生。这种关联是由于这些血管,如脾动脉和胃十二指肠动脉,靠近胰腺实质和胰管,使它们容易受到胰酶损伤。患者为50岁男性,有慢性酒精中毒和胰腺炎病史,因腹痛、呕血、黑便、早饱和贫血反复入院。入院时,他的血红蛋白水平为3.6 g/dL,肝功能检查结果紊乱。腹部增强CT显示胰腺头部一复杂的异密度肿块。
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引用次数: 0
Thyroid Tuberculosis: Misdiagnosed as Papillary Thyroid Carcinoma - A Rare Case Report. 甲状腺结核误诊为甲状腺乳头状癌1例。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-27 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S553344
Yanhua Tong, Jiejie Yao, Yingzhen Chen, Qichun Yu, Yu Lu, Ming Xuan

Background: Thyroid tuberculosis (TTB), either in its primary or secondary form, is a rare occurrence, even in recent years, with a high incidence of tuberculosis in China. Nowadays, with the increasing morbidity of thyroid nodules, it is apt to be misdiagnosed with malignant tumors. In this case, a suspicious malignant lesion was found on thyroid ultrasound (US), but the result after the surgery showed TTB.

Case presentation: This article reported a 67-year-old woman who was found left thyroid nodules during a physical examination three month ago. Thyroid US showed two suspicious hypoechoic lesions in the left thyroid gland and diagnosed as Chinese Thyroid Imaging Reporting and Data System. (C-TI-RADS) 4A category. The patient underwent US-guided fine needle aspiration of the two lesions, the results of which showed that suspected malignant tumors were not excluded. The patient underwent a left thyroidectomy and central group lymph node dissection. Postoperative pathological examination showed granulomatous inflammation with caseous necrosis in the thyroid gland, and diagnosed as tuberculosis. The patient had nonspecific clinical symptoms, no history of exposition, and no pulmonary involvement. Subsequently, the patient visited the tuberculosis specialist outpatient clinic for treatment.

Conclusion: This case report aims to enhance clinicians' awareness of TTB. With the increasing detection rate of thyroid nodules in US, it is crucial to distinguish between benign and malignant ones. TTB is often overlooked. Considering the existence of tuberculosis, unnecessary surgical treatment can be avoided.

背景:甲状腺结核(TTB),无论是原发性还是继发性,都是一种罕见的疾病,即使是近年来,在中国也有很高的发病率。目前,随着甲状腺结节发病率的不断上升,它很容易被误诊为恶性肿瘤。本例在甲状腺超声(US)上发现可疑的恶性病变,但术后结果显示为TTB。病例介绍:本文报告一位67岁女性,三个月前体检时发现左侧甲状腺结节。甲状腺超声显示左侧甲状腺两处可疑低回声病变,诊断为中国甲状腺影像学报告和数据系统。(C-TI-RADS) 4A类。患者在美国引导下对两处病变行细针穿刺,结果显示未排除疑似恶性肿瘤。患者接受了左甲状腺切除术和中央淋巴结清扫术。术后病理检查显示甲状腺肉芽肿性炎症伴干酪样坏死,诊断为结核。患者无特异性临床症状,无暴露史,无肺部受累。随后,患者前往结核病专科门诊接受治疗。结论:本病例报告旨在提高临床医生对TTB的认识。随着美国甲状腺结节检出率的提高,区分甲状腺结节的良恶性变得至关重要。TTB经常被忽视。考虑到结核病的存在,可以避免不必要的手术治疗。
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引用次数: 0
Rare Ocular Complication After Prone Position Surgery: Bilateral Subconjunctival Hemorrhage Following Endoscopic Lumbar Discectomy. 俯卧位手术后罕见的眼部并发症:内镜下腰椎间盘切除术后双侧结膜下出血。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-25 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S542197
Shin-Lin Chiu, Chiu-Liang Chen

Subconjunctival hemorrhage (SCH) is a rare complication in spinal surgery and is even more uncommon in endoscopic procedures, which are typically of short duration. We report the case of a 32-year-old male who developed bilateral SCH after an uneventful L4-L5 lumbar endoscopic discectomy performed under general anesthesia. The patient had a history of well-controlled hypertension and was not on anticoagulant therapy. The surgery lasted approximately 50 minutes, with appropriate head protection and smooth airway management. On the first postoperative day, bilateral SCH was observed without pain or visual disturbance. The hemorrhages resolved spontaneously within two weeks without complications. Although the exact mechanism remains unclear, contributing factors may include prone positioning, venous congestion, hemodynamic shifts, and hypertension-related vascular fragility. This case highlights the importance of recognizing subconjunctival hemorrhage as a rare but benign complication of prone spinal surgery, and suggests that patient reassurance and awareness are essential.

结膜下出血(SCH)是脊柱手术中一种罕见的并发症,在通常持续时间较短的内窥镜手术中更为罕见。我们报告一例32岁男性患者,在全身麻醉下行L4-L5腰椎内窥镜椎间盘切除术后发生双侧SCH。患者有控制良好的高血压病史,未接受抗凝治疗。手术持续了大约50分钟,有适当的头部保护和顺畅的气道管理。术后第一天,双侧SCH无疼痛或视觉障碍。出血在两周内自行消退,无并发症。虽然确切的机制尚不清楚,但可能包括俯卧位、静脉充血、血流动力学改变和高血压相关血管易碎性等因素。本病例强调了将结膜下出血视为俯卧脊柱手术罕见但良性并发症的重要性,并提示患者放心和意识是必不可少的。
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引用次数: 0
Encephalomalacia from Physical Trauma in an Adult: A Case Report and Review of Literature. 成人外伤所致脑软化症:1例报告及文献回顾。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-25 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S547076
Aqsa Zoey Sorathia, Nitish M Khindri, Anusha Akhai, Katrina Villegas, Rouba Isshak, Patrick Michael

Introduction: Encephalomalacia is the loss of brain tissue caused by an insult to the cerebral matter. Encephalomalacia is not frequently described in literature, with most focusing on infants and children, and rarely on the adult population. When described in the adult population, encephalomalacia is most commonly described following a cerebrovascular event. Reports of trauma-induced encephalomalacia in adults are uncommon, making such cases clinically significant. Despite some identified etiology in infants and children, our understanding of adult risk factors besides a cerebrovascular event remains limited. The following report describes a case of encephalomalacia in a young adult resulting from an atypical predisposing etiology.

Case presentation: Our case is of a twenty-eight-year-old male who presented with non-specific and abrupt symptoms of chest tightness, dyspnea, and aphasia after an apparent episode of alcohol intoxication. Further investigations and pertinent history-taking revealed a chronic history of similar symptoms traced back to a severe head trauma five years prior. The symptoms were ultimately attributed to left temporal lobe encephalomalacia, as evidenced by neuroimaging with CT and MRI. The patient received symptomatic treatment for possible alcohol withdrawal and was hospitalized until his symptoms improved. He was then discharged for continued outpatient follow-up care.

Conclusion: This case report aims to identify the unknown cause of neurobehavioral deficits in adults and highlight physical trauma as the probable etiology of encephalomalacia in such patients. It underscores the potential for early identification through neuroimaging and appropriate symptomatic management, offering hope for mitigating the impact on the patient's quality of life.

脑软化症是由于大脑物质受到损伤而导致的脑组织损失。脑软化症在文献中并不常见,大多数集中在婴儿和儿童身上,很少有成年人。当在成人人群中描述时,脑软化症最常被描述为脑血管事件。创伤性脑软化症的报道在成人中并不常见,这使得这类病例具有临床意义。尽管在婴儿和儿童中有一些确定的病因,但我们对成人除脑血管事件外的危险因素的了解仍然有限。下面的报告描述了一个病例脑软化症在一个年轻的成年人导致非典型易感病因。病例介绍:我们的病例是一个28岁的男性,在明显的酒精中毒发作后,出现非特异性和突发性的胸闷、呼吸困难和失语症状。进一步的调查和相关的病史记录显示,类似症状的慢性病史可追溯到五年前严重的头部创伤。经CT和MRI神经影像学证实,症状最终归因于左颞叶脑软化。患者接受了可能的酒精戒断的对症治疗,并住院直至症状改善。然后他出院继续门诊随访治疗。结论:本病例报告旨在确定成人神经行为缺陷的未知原因,并强调身体创伤是此类患者脑软化症的可能病因。它强调了通过神经成像和适当的症状管理进行早期识别的潜力,为减轻对患者生活质量的影响提供了希望。
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引用次数: 0
A Novel Mutation of TGFB2 Gene Responsible of Loeys-Dietz 4 Syndrome. 一种与Loeys-Dietz 4综合征相关的TGFB2基因突变。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-25 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S544549
Erika Di Zazzo, Autilia Tommasina Buonagura, Veronica Palladino, Michele Pinelli, Silvio Garofalo

Background: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is characterized by vascular and skeletal abnormalities. LDS, classified into six subtypes (LDS1-6), is caused by mutations in the genes encoding proteins involved in the transforming growth factor-beta (TGF-β) signaling pathway. LDS4 is the mild form of the LDS spectrum, considering that aneurysms are observed in the fourth decade and the disease progression is slower than the other forms.

Case presentation: We reported the case of a novel TGFB2 variant c.280_298del p.(Ser94Profs*7), NM_001135599.2 responsible of LDS4 in a family with sudden death and vascular lesions.

Conclusion: The pedigree analysis highlighted the high clinical variability of LDS signs even within the same family. In addition, TGFB2 mutations which do not always lead to vascular phenotype and skeletal signs can be prevalent. We emphasize the relevance of genetic counseling and molecular analysis to identify genetic diseases subtending sudden deaths and to distinguishing heritable connective tissue disorders with phenotypic overlap. Genetic testing can be used to guide clinical management and provide valuable prognostic information.

背景:Loeys-Dietz综合征(LDS)是一种以血管和骨骼异常为特征的结缔组织疾病。LDS分为6种亚型(LDS1-6),是由编码转化生长因子-β (TGF-β)信号通路蛋白的基因突变引起的。LDS4是LDS谱的轻度形式,考虑到动脉瘤在第四个十年被观察到,并且疾病进展比其他形式慢。病例介绍:我们报道了一例发生猝死和血管病变的TGFB2新变异c.280_298del p.(Ser94Profs*7), NM_001135599.2导致LDS4的病例。结论:谱系分析显示,即使在同一家族中,LDS症状的临床变异性也很高。此外,并不总是导致血管表型和骨骼体征的TGFB2突变可能很普遍。我们强调遗传咨询和分子分析的相关性,以确定导致猝死的遗传疾病,并区分具有表型重叠的遗传性结缔组织疾病。基因检测可用于指导临床管理和提供有价值的预后信息。
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引用次数: 0
Ileo-Sigmoid Knotting Rare Cause of Acute Intestinal Obstruction. 回肠乙状结肠结是急性肠梗阻的罕见原因。
IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-23 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S554994
Burkan Nasr, Yasser Hussein Al-Moharmy

Ileo-sigmoid knotting (ISK) is a rare and potentially life-threatening condition that results in a double-loop intestinal obstruction involving the ileum and sigmoid colon. This case report delineates the clinical presentation of a female patient aged 38 years, who exhibited significant abdominal discomfort and distension, recurrent attacks of vomiting, and absolute constipation. Clinical and radiologic findings suggested bowel obstruction with signs of volvulus. Exploratory laparotomy confirmed type 1A ISK with gangrene of the distal ileum and a redundant sigmoid colon. Surgical intervention included resection terminal ileum with ileocecal anastomosis and sigmoidectomy and colorectal anastomosis. The patient recovered without complications. Timely identification of medical conditions and immediate implementation of surgical interventions are vital to a favorable prognosis.

回肠-乙状结肠结(ISK)是一种罕见且可能危及生命的疾病,可导致涉及回肠和乙状结肠的双环肠梗阻。本病例报告描述了一位38岁女性患者的临床表现,她表现出明显的腹部不适和腹胀,反复呕吐和绝对便秘。临床及影像学表现提示肠梗阻伴肠扭转。剖腹探查证实1A型ISK伴回肠远端坏疽和乙状结肠多余。手术干预包括回肠末端切除回肠盲肠吻合术和乙状结肠切除术结肠吻合术。病人康复无并发症。及时识别医疗条件和立即实施手术干预对良好的预后至关重要。
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International Medical Case Reports Journal
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