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Achalasia in Klinefelter syndrome: A suspected pediatric case as well as prevalence analysis suggesting increased risk in this population 克莱恩费尔特综合征中的 Achalasia:一例疑似儿科病例以及患病率分析表明该人群患病风险增加
Pub Date : 2024-05-22 DOI: 10.1002/jpr3.12084
Lacey Miller, Hyung‐Gyo Cho, Charlotte Banayan, Vivian Vega Lemus, Shagun Sharma, Thomas Wallach
A 4‐year‐old male with Klinefelter syndrome (KS), speech delay, and intermittent history of coughing and choking during meals was referred for evaluation. Prior evaluation with computed tomography showed a dilated esophagus at the gastroesophageal junction. The patient was unable to tolerate a barium swallow. Upper endoscopy was performed, and an intraoperative esophagogram, demonstrated a “birds beak” appearance suggestive of achalasia. There is no documented relationship between achalasia and KS. However, we utilized TriNetX (a large‐scale data clearinghouse) to demonstrate a higher prevalence of achalasia in patients with KS as compared to the general population.
一名患有克莱恩费尔特综合征(Klinefelter Syndrome,KS)、语言发育迟缓、进餐时有间歇性咳嗽和呛咳病史的 4 岁男性被转诊接受评估。之前的计算机断层扫描评估显示,胃食管交界处的食管扩张。患者无法耐受吞钡术。对其进行了上内镜检查,术中食管造影显示其外观呈 "鸟嘴状",提示为贲门失弛缓症。贲门失弛缓症与 KS 之间没有任何关系。不过,我们利用 TriNetX(大型数据交换中心)证明,与普通人群相比,KS 患者的贲门失弛缓症发病率更高。
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引用次数: 0
Umbilical arterial catheter duration as risk factor for Bell's Stage III necrotizing enterocolitis in preterm neonates 脐动脉导管持续时间是早产新生儿发生贝尔氏 III 期坏死性小肠结肠炎的风险因素
Pub Date : 2024-05-20 DOI: 10.1002/jpr3.12081
R. Lalitha, Matthew Hicks, Mosarrat Qureshi, Kumar Kumaran
To explore risk factors for Stage‐III necrotizing enterocolitis (NEC‐III) in preterm neonates.This was a retrospective case‐control study of neonates born <33 weeks gestational age (GA) who were admitted to a tertiary neonatal intensive care unit, between 2015 and 2018. NEC‐III cases were compared with Stage‐II NEC (NEC‐II) and non‐NEC controls. Two to four non‐NEC controls were matched by GA ± 1 week and date of birth ± 3 months, to one NEC‐III case. Univariate and multivariate analyses were used to examine risk factors for NEC‐III.Of 1360 neonates born <33 weeks, 71 (5.2%) had NEC‐II and above, with 46% being NEC‐III. Mean age of onset of NEC‐III was 13.7 days versus 23.9 days for NEC‐II (p = 0.01). Neonates with NEC‐III were of lower GA (NEC‐III 25.4 weeks, NEC‐II 27.3 weeks, and non‐NEC 26 weeks; p = 0.0008) and had higher Score for Neonatal Acute Physiology Perinatal Extension‐II scores (NEC‐III 47.5, NEC‐II 28.4 and non‐NEC 37, p = 0.003). Multivariate analysis showed duration of umbilical arterial catheter (UAC) >5 days was significantly associated with the development of NEC‐III with adjusted odds ratio (AOR) 3.8; 95% confidence interval (CI) (1.05–13.66) for NEC‐III versus non‐NEC and AOR 5.57; 95% CI (1.65–18.73), p = 0.006 for NEC‐III versus NEC‐II. Rupture of membranes (ROM) >1 week was associated with NEC‐III (AOR 6.93; 95% CI [1.56–30.69] vs. non‐NEC and AOR 11.74; 95% CI [1.14–120.34] vs. NEC‐II).The increased association of NEC‐III with duration of UAC and ROM could be further examined in prospective studies, and an upper limit for UAC duration could be considered in NEC prevention bundles.
这是一项回顾性病例对照研究,研究对象是出生 5 天的新生儿。NEC-III 与非 NEC 相比,调整赔率比 (AOR) 为 3.8;95% 置信区间 (CI) 为 (1.05-13.66);NEC-III 与 NEC-II 相比,调整赔率比 (AOR) 为 5.57;95% 置信区间 (CI) 为 (1.65-18.73),P = 0.006。胎膜破裂 (ROM) >1 周与 NEC-III 相关(与非 NEC 相比,AOR 为 6.93;95% CI [1.56-30.69];与 NEC-II 相比,AOR 为 11.74;95% CI [1.14-120.34])。
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引用次数: 0
Autoimmune hepatitis presenting as severe anemia. 表现为严重贫血的自身免疫性肝炎。
Pub Date : 2024-04-29 eCollection Date: 2024-08-01 DOI: 10.1002/jpr3.12076
Brandon J Calley, Alexandra Polovneff, Kathryn Henry, Paula North, David C Moe, Cara L Mack

Autoimmune hepatitis (AIH) is relatively rare in children. Herein, our case demonstrates a unique presentation of AIH in a previously healthy 18-year-old female presenting with a mild cough, fatigue, and severe anemia (hemoglobin 2.9 g/dL). Initial evaluation revealed jaundice and scleral icterus, prompting transfer of care and further testing, which demonstrated severe microcytic anemia, pancytopenia, elevated liver enzymes, direct hyperbilirubinemia, and marked splenomegaly. Concern for autoimmune hemolytic anemia resulted in a delayed diagnosis. The combination of triple antibody positivity (anti-nuclear antibodies, anti-actin, and anti-liver-kidney microsomal-1) and liver histology findings confirmed the diagnosis of AIH. Intravenous methylprednisolone was initiated to induce remission. Due to pancytopenia and persistently elevated international normalized ratio, tacrolimus was chosen as the maintenance immunosuppression instead of azathioprine. This case highlights several significant considerations for clinicians, including the importance of a timely clinicopathologic diagnosis, the severe anemia presentation secondary to hypersplenism, and the rare finding of triple autoantibody-positive AIH.

自身免疫性肝炎(AIH)在儿童中相对罕见。在本病例中,一名 18 岁的健康女性因轻微咳嗽、乏力和严重贫血(血红蛋白 2.9 g/dL)而患上了自身免疫性肝炎。初步评估发现该患者出现黄疸和巩膜黄疸,于是转院并接受进一步检查,结果显示该患者存在严重的小细胞性贫血、泛血细胞减少、肝酶升高、直接高胆红素血症和明显的脾脏肿大。由于担心是自身免疫性溶血性贫血,诊断被推迟。三重抗体阳性(抗核抗体、抗肌动蛋白、抗肝肾微粒体-1)和肝脏组织学检查结果共同证实了 AIH 的诊断。患者开始静脉注射甲基强的松龙以诱导病情缓解。由于全血细胞减少和国际正常化比率持续升高,患者选择他克莫司代替硫唑嘌呤作为维持性免疫抑制剂。本病例强调了临床医生需要考虑的几个重要因素,包括及时进行临床病理诊断的重要性、继发于脾功能亢进的严重贫血表现以及罕见的三联自身抗体阳性 AIH。
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引用次数: 0
Considerable differences in management of cytomegalovirus infection in patients with biliary atresia. 对胆道闭锁患者巨细胞病毒感染的管理存在巨大差异。
Pub Date : 2024-04-04 eCollection Date: 2024-08-01 DOI: 10.1002/jpr3.12068
Ulrika Liliemark, Afrodite Psaros Einberg, Jan F Svensson, Björn Fischler

Objectives: Patients with biliary atresia (BA) and ongoing cytomegalovirus (CMV) infection may have poorer outcomes after Kasai portoenterostomy than uninfected patients. Still, there is no consensus on the usefulness of viral testing and antiviral treatment (AVT). This study aims to explore the need for future research on AVT for CMV infection by assessing how CMV infection in BA patients is managed in different centers.

Methods: An online questionnaire with 10 questions was offered to participants at an international congress on BA, organized in collaboration with the European Reference Network for rare liver diseases in 2022. Answers to questions were either dichotomic or multiple choices of different numeric intervals. Ongoing CMV infection was defined by detecting cytomegalovirus-immunoglobulin M (CMV-IgM) in serum or cytomegalovirus-deoxyribonucleic acid (CMV-DNA) by polymerase chain reaction in blood or urine.

Results: There were 43 respondents from 36 centers in 26 countries. The total number of BA patients per year was between 208 and 380 from centers with 0-5 to >20 BA patients yearly (median 6-10). CMV infection was tested in 27 centers (75%), of which 18 (67%) use AVT. The rate of CMV infection varied between 0%-5% and 40%-50% (median 5%-10%). Willingness to treat the infection did not differ between centers with low and high rates of CMV infection.

Conclusions: Most centers test for CMV infection, and a considerable proportion use AVT despite the lack of evidence of its benefits. A future randomized study on treating CMV infection in BA patients is necessary and feasible.

目的:胆道闭锁(BA)和巨细胞病毒(CMV)持续感染的患者在接受卡萨伊造口术后的预后可能会比未感染的患者差。然而,关于病毒检测和抗病毒治疗(AVT)的实用性还没有达成共识。本研究旨在通过评估不同中心对 BA 患者 CMV 感染的处理方式,探讨未来研究 CMV 感染 AVT 的必要性:在2022年与欧洲罕见肝病参考网络(European Reference Network for 罕见肝病)合作举办的BA国际大会上,向与会者提供了一份包含10个问题的在线问卷。对问题的回答可以是二分法,也可以是不同数字区间的多选法。血清中检测到巨细胞病毒免疫球蛋白 M(CMV-IgM)或血液或尿液中聚合酶链反应检测到巨细胞病毒脱氧核糖核酸(CMV-DNA)即为巨细胞病毒感染:共有来自 26 个国家 36 个中心的 43 位受访者。每年 BA 患者的总人数在 208 至 380 人之间,这些中心每年的 BA 患者人数从 0-5 人到超过 20 人不等(中位数为 6-10 人)。有 27 个中心(75%)检测了 CMV 感染,其中 18 个中心(67%)使用 AVT。CMV 感染率介于 0%-5% 和 40%-50% 之间(中位数为 5%-10%)。CMV感染率低的中心和感染率高的中心在治疗意愿上没有差异:结论:大多数中心都会检测 CMV 感染,尽管缺乏证据证明 AVT 的益处,但仍有相当一部分中心使用 AVT。未来对治疗 BA 患者的 CMV 感染进行随机研究是必要且可行的。
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引用次数: 0
Visceral leishmaniasis as a rare cause of granulomatous hepatitis 作为肉芽肿性肝炎罕见病因的内脏利什曼病
Pub Date : 2024-03-26 DOI: 10.1002/jpr3.12059
Dalal Ben Sabbahia, Meriem Atrassi, Halima Msaaf, Imane Chahid, A. Khoaja, Nissrine Bennani, Mehdi Karkouri, Abdelhak Abkari
Visceral leishmaniasis (VL) is a potentially fatal infection caused by species of Leishmania. It is characterized by fever, weight loss, anemia, and enlargement of the spleen and liver. Hepatitis due to VL is one of the causes of granulomatous hepatitis rarely described in the literature. It poses a problem of differential diagnosis with other causes, notably infectious and autoimmune. Hence the need for a global clinical, biological, and histological evaluation to orientate this entity, especially in endemic countries like ours. In the present case study, a 2‐year 8‐month‐old boy was diagnosed with VL and treated with meglumine antimoniate; the evolution was marked after 2 months by the persistence of a large liver; laboratory results showed elevated liver functions and anemia. A liver biopsy was performed, and the histological findings confirmed the diagnosis of granulomatous hepatitis.
内脏利什曼病(VL)是由利什曼原虫引起的一种可能致命的感染。其特征是发热、体重减轻、贫血、脾脏和肝脏肿大。VL 引起的肝炎是肉芽肿性肝炎的病因之一,在文献中鲜有描述。它与其他病因,尤其是感染性和自身免疫性病因存在鉴别诊断问题。因此,有必要进行全面的临床、生物学和组织学评估,以确定这种疾病的病因,尤其是在像我国这样的地方病流行国家。在本病例研究中,一名 2 岁 8 个月大的男童被诊断为 VL,并接受了甲氧苄氨嘧啶治疗;2 个月后,病情发展为持续性大肝脏;实验室结果显示肝功能升高和贫血。进行了肝活检,组织学结果证实了肉芽肿性肝炎的诊断。
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引用次数: 0
Letter to the editor in response to distinguishing autoimmune hepatitis from steatohepatitis in adolescents with obesity and positive screening alanine aminotransferase, appearing in JPGN rep 2023 feb 28;4(2):E292 致编辑的信,回应《区分肥胖和丙氨酸氨基转移酶筛查阳性青少年的自身免疫性肝炎和脂肪性肝炎》,刊登于《JPGN Rep 2023 feb 28;4(2):E292》。
Pub Date : 2024-02-28 DOI: 10.1002/jpr3.12050
C. Mandato, Angelo Colucci, Pietro Vajro
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引用次数: 0
Resolution of metabolic dysfunction‐associated steatohepatitis with estradiol in a transgender female: A case report 变性女性服用雌二醇后,代谢功能障碍相关性脂肪性肝炎得到缓解:病例报告
Pub Date : 2024-02-26 DOI: 10.1002/jpr3.12054
Athreya Steiger, Nathan T. VanderVeen, Esther H. Kang, Amy K. Weimer
A 16‐year‐old trans female patient presented to our Gender Health Program for gender‐affirming care. Her intake evaluation revealed signs of hepatocellular injury and fibrosis concerning for metabolic dysfunction‐associated steatohepatitis (MASH) and she was referred to a Pediatric Hepatologist. Subsequent delays in initiating hormone therapy caused a decline in her mental health, and she began experiencing suicidal ideations. Gender‐affirming hormone therapy has been shown to significantly reduce depressive symptoms and suicidal ideations in transgender and gender diverse youth, and studies in animal models suggest improvement in hepatic steatosis in response to estrogen. A multidisciplinary meeting with Gender Health, Psychiatry, and Hepatology appropriately weighed the benefits of life‐saving hormone therapy and the possibility of an improvement in her comorbid liver condition with the risk of further liver damage from estrogen therapy. The teams and the patient agreed to start estradiol with subsequent resolution of laboratory and radiographic evidence of MASH.
一名 16 岁的变性女性患者来到我们的性别健康项目寻求性别确认护理。她的入院评估显示她有肝细胞损伤和纤维化的迹象,这与代谢功能障碍相关性脂肪性肝炎(MASH)有关,因此她被转诊至儿科肝病专家。随后,激素治疗的延迟导致她的精神健康状况下降,并开始出现自杀念头。性别确认激素疗法已被证明可显著减轻变性和性别多元化青少年的抑郁症状和自杀倾向,动物模型研究也表明雌激素可改善肝脏脂肪变性。性别健康科、精神病科和肝病科召开了一次多学科会议,适当权衡了拯救生命的激素治疗的益处和改善其合并肝病的可能性,以及雌激素治疗对肝脏造成进一步损害的风险。治疗小组和患者同意开始使用雌二醇,随后实验室和影像学证据显示 MASH 病情得到缓解。
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引用次数: 0
Letter to the editor in response to: A case of pediatric alcohol‐associated hepatitis evaluated for liver transplant listing 致编辑的信一例小儿酒精相关性肝炎病例的肝移植列表评估
Pub Date : 2024-02-26 DOI: 10.1002/jpr3.12026
Amber Hildreth, J. Schwimmer
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引用次数: 0
Food insecurity screening practices in a pediatric gastroenterology population 儿科肠胃病人群中的粮食不安全筛查做法
Pub Date : 2024-02-26 DOI: 10.1002/jpr3.12058
Ryan Morrow, Marisa G. Stahl, Ed Liu, Mary Shull, Monique M. Germone, Sadie Nagle, Isabel Griffith, Pooja Mehta
Food insecurity is a rising concern for US households and leads to adverse child health outcomes. Pediatric gastroenterology providers are uniquely equipped to help guide families experiencing this challenge given their specialized training in nutritional support and dietary therapy for disease management. Hence, this study aimed to evaluate food insecurity screening practices from the perspectives of patient caregivers and healthcare providers in a tertiary pediatric gastroenterology practice. A survey was administered to 1279 caregivers and 121 providers. Of the 248 completed caregiver responses, 10%−15% reported being asked about food insecurity. Among the 36 healthcare provider responses, 53% expressed comfort in conducting food insecurity screening but only 14% routinely screened. The most cited barrier to screening was the lack of readily available patient resources. Further research is imperative to address these screening barriers and assess the impact of food insecurity screening and interventions on pediatric gastrointestinal health outcomes.
食品不安全是美国家庭日益关注的问题,并导致不良的儿童健康后果。小儿肠胃病学医疗服务提供者在营养支持和疾病管理饮食疗法方面接受过专业培训,因此具备独特的能力来帮助指导面临这一挑战的家庭。因此,本研究旨在从一家三级儿科消化内科诊所的病人看护者和医疗服务提供者的角度评估食物不安全筛查做法。我们对 1279 名护理人员和 121 名医疗服务提供者进行了调查。在 248 份已完成的护理人员回复中,10%-15% 的护理人员表示曾被问及食物不安全问题。在 36 份医疗服务提供者的回复中,53% 的人表示愿意进行食物不安全筛查,但只有 14% 的人表示会进行常规筛查。最常提到的筛查障碍是缺乏现成的患者资源。要解决这些筛查障碍并评估食物不安全筛查和干预措施对儿科胃肠道健康结果的影响,进一步的研究势在必行。
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引用次数: 0
Collagenous gastritis with elevated fecal calprotectin in a pediatric patient 一名儿科患者的胶原性胃炎伴粪便钙黏蛋白升高
Pub Date : 2024-02-22 DOI: 10.1002/jpr3.12055
Natalie Rodriguez, Soma Kumar, Jun Mo, Phillipp Hartmann
Collagenous gastritis is a rare and chronic inflammatory condition of undetermined etiology characterized histologically by thickened subepithelial collagen bands and increased intraepithelial lymphocytes. Here, we present a collagenous gastritis case in a 16‐year‐old female with chronic abdominal pain, persistently elevated fecal calprotectin (507 and 796 mcg/g), and resolved iron deficiency anemia. The patient's history, laboratory tests, endoscopy, and magnetic resonance imaging ruled out common causes of elevated fecal calprotectin, including Helicobacter pylori and gastrointestinal infections, medications, celiac disease, and inflammatory bowel disease, as well as less common causes such as collagenous colitis. Esophagogastroduodenoscopy revealed significant antral nodularity. Gastric biopsies showed thickened subepithelial collagen band and surface epithelium damage with increased intraepithelial lymphocytes. The ileocolonoscopy was normal. This is among the first reported cases of collagenous gastritis with elevated fecal calprotectin levels that could solely be attributed to this condition.
胶原性胃炎是一种病因未明的罕见慢性炎症,组织学特征是上皮下胶原带增厚和上皮内淋巴细胞增多。在此,我们介绍一例胶原性胃炎病例,患者为一名 16 岁女性,患有慢性腹痛、大便钙蛋白持续升高(507 和 796 微克/克)以及已治愈的缺铁性贫血。该患者的病史、实验室检查、内窥镜检查和磁共振成像排除了导致粪钙蛋白升高的常见原因,包括幽门螺杆菌和胃肠道感染、药物、乳糜泻和炎症性肠病,以及胶原性结肠炎等不常见原因。食管胃十二指肠镜检查发现前胃有明显结节。胃活检显示上皮下胶原带增厚,表面上皮受损,上皮内淋巴细胞增多。回肠结肠镜检查正常。这是首例报告的胶原性胃炎病例,其粪便钙蛋白水平升高可完全归因于这种病症。
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引用次数: 0
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