gastrointestinal system

胃肠系统
  • 文章类型: Case Reports
    自身免疫性溶血性贫血(AIHA),红细胞的自身免疫破坏最常继发于免疫调节病症。AIHA与炎症性肠病(IBD)之间的关联研究很少。我们的目的是报告一例使用维多珠单抗治疗的溃疡性结肠炎(UC)患者的AIHA病例。一例30多岁的女性患有UC,在开始使用vedolizumab后出现严重贫血。由于没有可见的失血和Coombs直接测试阳性,AIHA的诊断得以确立。患者最初开始泼尼松龙,无反应。必须引入利妥昔单抗。经过几天的治疗,临床和分析有所改善.必须考虑AIHA作为IBD患者贫血的可能原因。作为AIHA的病因,IBD或药物相关(即维多珠单抗)之间的鉴别诊断是复杂的,几乎不可能建立。
    Autoimmune haemolytic anaemia (AIHA), autoimmune destruction of erythrocytes is most commonly secondary to immunomodulated conditions. The association between AIHA and inflammatory bowel disease (IBD) has been poorly investigated. We aim to report a case of AIHA in a patient with ulcerative colitis (UC) treated with vedolizumab.A case of a woman in her 30s with UC that after the initiation of vedolizumab developed severe anaemia. Due to the absence of visible blood losses and a positive Coombs direct test, the diagnosis of AIHA was established. The patient initially initiated prednisolone with no response. Rituximab had to be introduced. After a few days with this therapy, there was a clinical and analytical improvement.AIHA must be taken into account as a possible cause of anaemia in patients with IBD. The differential diagnosis between IBD or drug-related (namely vedolizumab) as the cause of the AIHA is complex and almost impossible to establish.
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  • 文章类型: Case Reports
    正中弓状韧带综合征(MALS)是一种罕见的临床实体,由正中弓状韧带对腹腔轴的外部压迫引起。在这份报告中,我们详细介绍了一个涉及单卵双胞胎的独特表现,两人都表现出正中弓状韧带对腹腔轴的解剖外在压迫。有趣的是,只有一个双胞胎表现出与MALS一致的临床症状,尽管在两者中观察到乳糜轴的解剖压缩相当。这种情况突出了遗传或解剖学倾向的潜在相互作用,以腹腔轴压缩和继发性,可能是环境,导致临床症状发展的因素。在这份报告中,我们探索了可能影响MALS症状学的各种决定因素,并倡导发表类似的案例研究,以进一步阐明这种罕见的情况.
    Median arcuate ligament syndrome (MALS) is a rare clinical entity arising from the extrinsic compression of the coeliac axis by the median arcuate ligament. In this report, we detail a unique presentation involving monozygotic twins, both of whom demonstrated anatomical extrinsic compression of the coeliac axis by the median arcuate ligament. Intriguingly, only one twin manifested clinical symptoms consistent with MALS, despite comparable anatomical compression of the coeliac axis observed in both. This case highlights the potential interplay of a genetic or anatomical predisposition to coeliac axis compression and secondary, possibly environmental, factors that lead to the development of clinical symptoms. In this report, we explore various determinants potentially influencing symptomatology in MALS and advocate for the publication of similar case studies to further elucidate this rare condition.
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  • 文章类型: Case Reports
    在憩室疾病的情况下,通常怀疑结肠膀胱瘘,恶性肿瘤,创伤,医源性损伤或放疗。在同种异体活体相关移植的情况下,这是很少有人预料到的,尤其是20年后。在没有尿路器械史的情况下,膀胱中存在气体应提示我们评估膀胱瘘。血尿,尿尿和复发性尿路感染是结肠膀胱瘘的特征,当肾移植受者和他们在一起时,它应该促使适当的检查和迅速的手术管理,因为结果一致有利。根据我们在这个领域的知识,我们知道这些患者是免疫功能低下的患者,并且很容易发展为恶性肿瘤和/或憩室疾病等危险因素,并最终形成膀胱瘘。预期时间段可以为2个月至6年。但在我们的案例中,瘘管形成发生在皮质类固醇作用高峰后很久,在没有传统病因的情况下。
    Colovesical fistula is commonly suspected in cases of diverticular disease, malignancy, trauma, iatrogenic injury or radiotherapy. In a case of allogenic live related transplant, this is rarely expected, especially after 20 years. The presence of gas in the bladder in the absence of history of instrumentation of urinary tract should prompt us to evaluate for colovesical fistula. Pneumaturia, faecaluria and recurrent urinary tract infection are tell-tale features of colovesical fistula, and when patients who are renal allograft recipient present with them, it should prompt a proper workup and swift surgical management, since the outcome is uniformly favourable. From our knowledge in this realm, we know that these are immunocompromised patients and have a high tendency to develop risk factors like malignancy and/or diverticular disease and eventually form colovesical fistula. An expected time period could be from 2 months to 6 years. But in our case, fistula formation occurred long after peak corticosteroid action, in the absence of conventional aetiologies.
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  • 文章类型: Case Reports
    我们报道了一个南亚血统的年轻女孩成长步履蹒跚的案例,肝肿大,高甘油三酯血症和升高的转氨酶。随后的超声扫描发现她的肝脏有脂肪浸润,肝活检显示纤维化和脂肪变性。患者的血清甘油三酯在28个月大的情况下恢复正常。在6岁时,患者基因组的全外显子组测序发现了甘油-3-磷酸脱氢酶1(GPD1)基因的新型纯合变体,GPD1c.500G>A(p。Gly167Asp),导致GPD1缺乏症的诊断。
    We report a case of a young girl of South Asian descent presented with faltering growth, hepatomegaly, hypertriglyceridaemia and raised transaminases. Subsequent ultrasound scans identified fatty infiltration in her liver, and a liver biopsy showed fibrosis and steatosis. The patient\'s serum triglycerides normalised without intervention by the age of 28 months. At age 6, whole-exome sequencing of the patient\'s genome identified novel homozygous variants in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene, GPD1 c.500G>A (p.Gly167Asp), leading to a diagnosis of GPD1 deficiency.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    嗜血杆菌是上消化道出血的不寻常但重要的原因。三分之二的胆道出血病例继发于侵入性肝胆胰手术。胆道血管发育不良异常,只报告了三例。在这里,我们报告了一个自主的80岁女性病例,5年前有胆囊切除术和心血管疾病-高血压病史,心力衰竭,急性心肌梗死,中风和非瓣膜性心房颤动,每天两次用阿哌沙班2.5毫克抗凝。自2019年7月以来,她有4次轻度至中度急性胆管炎发作,接受过广谱抗生素治疗和内镜逆行胰胆管造影术(ERCP),括约肌切开术和胆汁污泥提取。三个月后,患者出现了新的急性胆管炎发作,这次是胆道出血(Quincke\的三合会)。腹部CT血管造影显示没有活动性出血的证据,ERCP留下的塑料胆道假体。患者继续出现新的急性胆管炎伴胆道出血,其中一些与胰腺炎有关。使用SpyglassDSII进行了胆道镜检查,显示血管发育不良占据中部胆总管管腔围的一半,无活动性出血。在多学科会议后,考虑到高出血/血栓形成风险(CHA2DS2-VASc8),考虑关闭左心耳.然而,开始心血管干预的抗聚集方案后病情复发使其不可行.尝试了另一种使用超薄内窥镜进行氩等离子体凝固的胆道镜检查,没有成功。重复腹部CT血管造影,这次鉴定了胃十二指肠和胰腺下动脉的扩张分支。在用微线圈栓塞这些异常血管后,病人进展顺利,无复发出血或胆胰并发症。我们介绍一例梗阻性胆道出血伴多种胆胰并发症,继发于极为罕见的原因-胆总管血管发育不良。胆道镜检查在诊断和治疗指导中具有决定性作用。与胆道出血相关的诊断/治疗挑战脱颖而出,需要个性化和多学科的方法。
    Haemobilia is an unusual but significant cause of upper gastrointestinal bleeding. Two-thirds of haemobilia cases are secondary to invasive hepato-biliopancreatic procedures. Biliary angiodysplasia is exceptionally unusual, with only three cases reported. Herein, we report the case of an autonomous 80-year-old woman with a history of cholecystectomy 5 years ago and cardiovascular disease-hypertension, heart failure, acute myocardial infarction, stroke and non-valvular atrial fibrillation, anticoagulated with apixaban 2.5 mg two times per day. Since July 2019, she had four episodes of acute cholangitis of mild-to-moderate severity, having undergone broad spectrum antibiotics treatment and endoscopic retrograde cholangiopancreatography (ERCP), with sphincterotomy and bile sludge extraction. After 3 months, the patient presented with a new episode of acute cholangitis, this time with haemobilia (Quincke\'s triad). An abdominal CT angiography showed no evidence of active bleeding, with plastic biliary prosthesis left by ERCP. The patient continued presenting new episodes of acute cholangitis with haemobilia, some of them with associated pancreatitis. A cholangioscopy with Spyglass DS II was performed, showing an angiodysplasia occupying half of the luminal circumference of the middle choledoccus, without active haemorrhage. After a multidisciplinary meeting and given the high haemorrhagic/thrombotic risk (CHA2DS2-VASc 8), closure of the left atrial appendage was considered. However, relapse of the condition after beginning the antiaggregation protocol for cardiovascular intervention made it unfeasible. Another cholangioscopy with an ultra-thin endoscope for argon-plasma coagulation was attempted, without success. The abdominal CT angiography was repeated, this time with identification of dilated ramifications of the gastroduodenal and inferior pancreatic arteries. After embolisation of these aberrant vessels with microcoils, the patient went well, with no recurrence of bleeding or biliopancreatic complications. We present a case of obstructive haemobilia with multiple biliopancreatic complications, secondary to an extremely rare cause-choledochal angiodysplasia. Cholangioscopy had a decisive role in the diagnosis and therapeutic guidance. The diagnostic/therapeutic challenge associated with haemobilia stands out, with the need for a personalised and multidisciplinary approach.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    Systemic sclerosis is a rare condition that has not been well reported in Africa, and several multisystemic manifestations, including gastrointestinal ones, have not been well documented locally. We present an unusual case of persistent gastro-oesophageal reflux and diarrhoea in a 74-year-old Kenyan female, who progressively developed abdominal distention, dysphagia and Raynaud´s phenomenon. Stool tests were unremarkable, whereas antinuclear antibody, ribonucleoproteins antibody (anti-nRNP/Sm) and anti-Sjögren\'s-syndrome-related antigen A autoantibody (anti-SSA) tests were positive. Endoscopic and imaging investigations revealed features of gastrointestinal dysmotility including reflux oesophagitis, gastroparesis and chronic intestinal pseudo-obstruction. A diagnosis of systemic sclerosis was made, and she responded well to medical treatment. We present this case to contribute to the limited literature of a disease associated with high morbidity and mortality, as well as encourage fellow clinicians to have a high level of suspicion in their differentials of persistent gastrointestinal dysmotility.
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  • 文章类型: Case Reports
    该报告描述了一位患有胆汁淤积性黄疸的患者,该患者偶然发现了甲状旁腺激素依赖性高钙血症。这种表现的鉴别诊断包括全身性肉芽肿和浸润性疾病,药物性肝损伤和恶性肿瘤。由于最初的调查对病因没有贡献,她接受了类固醇治疗,随后接受了血浆置换治疗。鉴于没有临床和生化反应,再次修改了差异。甲状腺结节的重复细针穿刺细胞学检查(在正电子发射断层扫描/CT上可见)显示甲状腺乳头状癌。患者接受了甲状腺全切除术。肝功能检查和血清钙完全恢复正常,术后3个月瘙痒消退。她被回顾性诊断为甲状腺乳头状癌,伴有副肿瘤表现-高钙血症和胆汁淤积性黄疸-通过原发肿瘤的治疗得以解决。
    The report describes a patient with cholestatic jaundice who had incidentally detected parathyroid hormone-independent hypercalcaemia. The differential diagnosis for this presentation includes systemic granulomatous and infiltrative disorders, drug-induced liver injury and malignancy. As the initial investigations were non-contributory towards the aetiology, she was given steroids and later plasma exchange for symptomatic treatment. The differentials were revised again in view of no clinical and biochemical response. A repeat fine-needle aspiration cytology of the thyroid nodule (seen on positron emission tomography/CT) revealed papillary carcinoma of the thyroid. The patient underwent total thyroidectomy. There was a complete normalisation of liver function tests and serum calcium, and resolution of pruritus 3 months post surgery. She was retrospectively diagnosed as a case of papillary carcinoma of the thyroid with paraneoplastic manifestations-hypercalcaemia and cholestatic jaundice-which got resolved with treatment of the primary tumour.
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  • 文章类型: Case Reports
    直肠腹会阴切除术(APER)是治疗低位直肠癌的广泛使用的手术方法之一,良性疾病,如克罗恩直肠炎,肛门受累,作为肛门癌的抢救程序。会阴伤口感染是这种大手术后公认的并发症。这种大手术后几周内发生阑尾炎的情况并不常见。然而,在这里,我们提出了一个罕见的穿孔阑尾炎的病例报告,表现为持续的会阴放电在一个老人,腹腔镜APER治疗低位直肠肿瘤。据我们所知,这是医学文献史上首次报道如此罕见的阑尾炎临床表现。通过这个案例报告,我们的目标是强调考虑会阴出院患者这种罕见表现的重要性,在APER之后。
    Abdominoperineal excision of rectum (APER) is one of the widely used surgical procedures to treat low rectal cancer, benign conditions like Crohn\'s proctitis with anal involvement and as a salvage procedure for anal cancer. Perineal wound infection is a well-recognised complication following such major surgery. Occurrence of appendicitis in a few weeks\' time following such a major surgery is uncommon. However, here we present a rare case report of perforated appendicitis presenting as persistent perineal discharge in an elderly man, following laparoscopic APER for a low rectal tumour. To our knowledge, this is the first time such a rare clinical presentation of appendicitis is reported in the history of medical literature. Through this case report, we aim to highlight the importance of considering such an uncommon presentation in patients with perineal discharge, following APER.
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