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Helicobacter pylori prevalence and its association with fecal occult blood and hemoglobin concentration in children in Ilam, Iran. 伊朗伊拉姆儿童幽门螺杆菌患病率及其与粪便隐血和血红蛋白浓度的关系
Pub Date : 2025-07-24 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70069
Saeed Hemati, Zahra Mahdavi, Zeinab Mohsenipour

Objectives: Helicobacter pylori (H. pylori) is a widespread Gram-negative bacterium, affecting over half of the global population. This study investigated the prevalence of H. pylori among children in Ilam, western Iran, and assessed potential associations between infection, fecal occult blood tests (FOBT), hemoglobin concentration (HbC), and seasonality.

Methods: Overall, we recruited 92 children less than 12 years of age who were investigated with an H. pylori stool antigen (HpSA) test from January 2021 to December 2022. The HpSA test was carried out based on a sandwich enzyme immunoassay using enzyme-linked immunosorbent assay (ELISA) method. FOBT was performed on fresh samples using one-step rapid diagnostic kit. HbC was determined with an automated blood analyzer.

Results: From 92 participants, 20 (21.7%) cases showed a positive result for H. pylori antigen. This result included 9 (45%) female and 11 (55%) males. There were no significant differences between H. pylori prevalence and gender (p-value = 0.46), FOBT results (p-value = 0.99), HbC (p-value = 0.60), and seasonality (p-value = 0.31).

Conclusions: The findings of this study demonstrated that the results of FOBT and HbC may not provide valuable data for predicting H. pylori infection in children.

目的:幽门螺杆菌(h.p ylori)是一种广泛存在的革兰氏阴性菌,影响全球一半以上的人口。本研究调查了伊朗西部Ilam地区儿童幽门螺杆菌的患病率,并评估了感染、粪便潜血检查(FOBT)、血红蛋白浓度(HbC)和季节性之间的潜在关联。方法:总体而言,我们招募了92名12岁以下的儿童,他们在2021年1月至2022年12月期间接受了幽门螺杆菌粪便抗原(HpSA)检测。HpSA检测采用夹心酶免疫分析法,采用酶联免疫吸附法(ELISA)。使用一步快速诊断试剂盒对新鲜样品进行FOBT检测。用自动血液分析仪测定HbC。结果:92例患者中,幽门螺杆菌抗原阳性20例(21.7%)。其中女性9例(45%),男性11例(55%)。幽门螺杆菌患病率与性别(p值= 0.46)、FOBT结果(p值= 0.99)、HbC (p值= 0.60)和季节性(p值= 0.31)之间无显著差异。结论:本研究结果表明,FOBT和HbC的结果可能不能为预测儿童幽门螺杆菌感染提供有价值的数据。
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引用次数: 0
Improving patient satisfaction in a multidisciplinary pediatric feeding clinic. 提高多学科儿科喂养门诊患者满意度。
Pub Date : 2025-07-24 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70067
Sussette Gonzalez Szachowicz, Linda Cooper-Brown, Scott Dailey, Emily Garcia, Liyun Zhang, Amy Pan, Rose Lee

Objectives: Pediatric feeding disorders can result from psychosocial dysfunction, poor feeding skills, or medical or nutritional disorders. The primary aim of this study was to evaluate patient satisfaction at the multidisciplinary feeding clinic (MFC) and improve patient satisfaction by reducing patient wait times, improving communication, maximizing clinic space, and expanding inclusivity of our patients and their families in the decision-making process.

Methods: A survey was created with 14 questions and distributed to all patients who came to the MFC at the University of Iowa. The baseline surveys were administered from September 2021 to November 2021. The following interventions were implemented: reducing time to room a patient, maximizing clinic space, increasing clinical efficiency, and providing more education. Follow-up surveys were collected from December 2022 to March 2023.

Results: A total of 84 subjects: 41 for the pre-intervention group and 43 for the post-intervention group. There were statistically significant differences noted in these categories: the team thoroughly explaining the treatment plan, answering all questions, and getting parents involved in the decision-making process. Families appreciated the team making the patient feel included throughout the visit. Providing spacious rooms and short wait times were also rated highly.

Conclusion: Overall satisfaction for the MFC at the University of Iowa was rated as highly satisfactory. Areas of further improvement included shortening patient wait times and providing more education for families. This study highlights the continued importance of surveying patients to identify areas of improvement in multidisciplinary clinics.

目的:儿童喂养障碍可由心理社会功能障碍、不良喂养技能或医疗或营养障碍引起。本研究的主要目的是评估多学科喂养诊所(MFC)的患者满意度,并通过减少患者等待时间、改善沟通、最大化诊所空间、扩大患者及其家属在决策过程中的包容性来提高患者满意度。方法:创建了一份包含14个问题的调查问卷,并将其分发给所有来到爱荷华大学MFC的患者。基线调查于2021年9月至2021年11月进行。实施了以下干预措施:减少为病人安排房间的时间,最大化诊所空间,提高临床效率,并提供更多的教育。从2022年12月到2023年3月收集了后续调查。结果:共84例受试者,干预前组41例,干预后组43例。在这些类别中有统计学上的显著差异:团队彻底解释了治疗计划,回答了所有问题,让父母参与决策过程。家属们很感激这个团队让病人在整个就诊过程中都有归属感。宽敞的房间和短的等待时间也得到了很高的评价。结论:对爱荷华大学MFC的总体满意度被评为高度满意。进一步改善的领域包括缩短病人等待时间和为家庭提供更多教育。这项研究强调了调查患者以确定多学科诊所改进领域的持续重要性。
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引用次数: 0
Multicenter study of continuing ustekinumab after intravenous induction reactions in pediatric Crohn's disease. 儿童克罗恩病静脉诱导反应后持续ustekinumab的多中心研究
Pub Date : 2025-07-23 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70065
Joann Samalik, Andrew Singer, Sabina Ali, Archana Anandakrishnan, Michaella K Baker, Jana Creps, Camila Khorrami, Ross M Maltz, Lauren Manning, Jonathan Moses, Brad Pasternak, Perseus V Patel, Dianne C Singer, David L Suskind, Becca Trombler, Jeremy Adler

Reactions to intravenous ustekinumab for inflammatory bowel disease (IBD) occur, the frequency of which is uncertain. It is unclear how often subcutaneous treatment is continued after reactions to the intravenous dose, or how well it is tolerated. We therefore conducted a retrospective cohort study of pediatric patients who initiated ustekinumab for Crohn's disease from 6 pediatric IBD centers in the United States. Ten of 207 (5%) patients had an infusion reaction to their induction ustekinumab dose. Of these, 6 (60%) restarted their infusion, five completed the infusion. Subsequently, eight patients were treated with subcutaneous ustekinumab, none of whom develop reactions. Reaction to intravenous induction ustekinumab occurs in 5% of patients. Subcutaneous ustekinumab is generally well tolerated after intravenous reaction.

静脉注射ustekinumab治疗炎症性肠病(IBD)会发生反应,其频率尚不确定。目前尚不清楚静脉注射后多久继续进行皮下治疗,或者它的耐受性如何。因此,我们对美国6个儿科IBD中心开始使用ustekinumab治疗克罗恩病的儿科患者进行了一项回顾性队列研究。207例患者中有10例(5%)对其诱导ustekinumab剂量有输液反应。其中6例(60%)重新开始输注,5例完成输注。随后,8名患者接受皮下ustekinumab治疗,无一人出现反应。5%的患者对静脉诱导ustekinumab产生反应。静脉反应后,皮下ustekinumab通常耐受性良好。
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引用次数: 0
In vitro radionuclide labeling characteristics of blenderized tube feeds for quantitative gastric motility assessment. 胃动力定量评价用混合管饲的体外放射性核素标记特性。
Pub Date : 2025-07-22 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70066
Bridget M Hron, Thomas S C Ng, Firouzeh Najafi Khosroshahi, Vasiliki Kourmouzi, Laura A Drubach, Stephan Voss, Rachel L Rosen, Alan Packard

Gastric emptying scintigraphy (GES) using technetium-99m-sulfur colloid (99mTc-SC) is an important tool for evaluating feeding intolerance. Stable 99mTc-SC binding to the solid component of the meal is imperative for accurate result interpretation. The objective of this study is to quantify the binding characteristics of 99mTc-SC to blenderized tube feeds. 99mTc-SC stably bound to chicken and egg blenderized diets over 4 h, the typical duration of gastric emptying exams. While more 99mTc-SC was found in the liquid phase for both blenderized feeds compared to the standard egg meal, this was within clinically acceptable range (chicken-blend T0 15%, T1h 17%, and T4h 18.5%; egg-blend T0 12%, T1h 11%, and T4h 10%; egg-standard T0 2.5%, T1h 3.5%, and T4h 7%, p < 0.05 for all pairwise comparisons at each time point except chicken-blend vs. egg-blend at T0). Results suggest that 99mTc-SC binding characteristics in blenderized feeds are acceptable for use in GES.

使用锝-99m-硫胶体(99mTc-SC)的胃排空闪烁成像(GES)是评估喂养不耐受的重要工具。稳定的99mTc-SC与膳食固体成分的结合对于准确的结果解释是必不可少的。本研究的目的是量化99mTc-SC与混合管进料的结合特性。99mTc-SC在鸡肉和鸡蛋混合饮食中稳定结合超过4小时,胃排空检查的典型持续时间。虽然两种混合饲料的液相中99mTc-SC含量均高于标准蛋粕,但均在临床可接受范围内(鸡粉T0 15%, T1h 17%, T4h 18.5%;鸡蛋粉T0 12%, T1h 11%, T4h 10%;鸡蛋标准饲料T0 2.5%, T1h 3.5%, T4h 7%, p < 0)。结果表明,混合饲料中的99mTc-SC结合特性可用于GES。
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引用次数: 0
Cow's milk protein allergy with protein-losing enteropathy under the scope. 牛奶蛋白过敏伴失蛋白性肠病。
Pub Date : 2025-07-16 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70026
Morgane Thorens-Borgeat, Géraldine Blanchard-Rohner, Salim Ramadan, Jean-Christophe Caubet, Laetitia-Marie Petit, Valerie McLin, Anne-Laure Rougemont

Objectives: Cow's milk protein allergy (CMPA) is very frequent in infants. Presentation is variable, and symptoms fluctuate in intensity. Diagnosis can be challenging as it is mostly clinical. In severe cases, patients can present with anasarca secondary to protein-losing enteropathy (PLE). The exact mechanism underlying PLE is incompletely understood. Here we report four cases of severe PLE caused by CMPA warranting endoscopic workup in whom histological expression was characterized by variable features along the gastrointestinal (GI) tract.

Methods: We report four cases of severe CMPA with PLE requiring extensive workup including endoscopy to exclude immune deficiency or congenital enteropathy. The different histological expressions along the GI tract are presented.

Results: Histology ranged from the expected eosinophilia, observed in all cases, to severe mucosal atrophy with subtotal loss of colonic glands. Correlation between endoscopy and histology was poor.

Conclusion: CMPA can affect any segment of the GI tract and the intensity of the histological findings varies among patients and localizations. Food protein allergy should be considered in infants and children with hypoalbuminemia.

目的:牛奶蛋白过敏(CMPA)在婴幼儿中非常常见。表现是多变的,症状在强度上波动。诊断可能具有挑战性,因为它主要是临床诊断。在严重的情况下,患者可出现继发于蛋白质丢失性肠病(PLE)的无水性贫血。PLE的确切机制尚不完全清楚。在这里,我们报告了四例由CMPA引起的严重PLE,需要内镜检查,其组织学表达以胃肠道(GI)的可变特征为特征。方法:我们报告了4例严重CMPA合并PLE需要广泛的检查,包括内窥镜检查以排除免疫缺陷或先天性肠病。介绍了沿胃肠道的不同组织学表现。结果:组织学范围从预期的嗜酸性粒细胞增多,在所有病例中观察到严重的粘膜萎缩和结肠腺体的几乎全部丧失。内镜检查与组织学的相关性较差。结论:CMPA可影响胃肠道的任何部分,其组织学表现的强度因患者和部位而异。婴儿和低白蛋白血症儿童应考虑食物蛋白过敏。
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引用次数: 0
Digestive autoimmune diseases mimicking gastrointestinal manifestations in children with sickle cell anemia: A report of three cases. 镰状细胞性贫血患儿消化道表现相似的消化自身免疫性疾病:附3例报告
Pub Date : 2025-07-13 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70062
Saray Mesonero Cavia, Marta García Bernal, Maria Jose López Liñan, Roger García Puig

Sickle cell anemia (SCA) is a genetic disorder that presents with a variety of systemic complications, including gastrointestinal (GI) manifestations. These GI symptoms can overlap with those of digestive autoimmune diseases (DAD) such as inflammatory bowel disease (IBD) and autoimmune hepatitis (AIH), complicating the diagnosis and management. This study presents three cases of SCA patients diagnosed with DAD, highlighting the diagnostic challenges and therapeutic outcomes. Our goal is to stress how abdominal symptoms in SCA can mask the presence of DAD, leading to potential misdiagnoses. We review the implications of these findings in clinical practice and compare them to the literature to emphasize the importance of recognizing and differentiating these conditions to avoid delays in treatment.

镰状细胞性贫血(SCA)是一种遗传性疾病,具有多种系统性并发症,包括胃肠道(GI)表现。这些胃肠道症状可与消化自身免疫性疾病(DAD)如炎症性肠病(IBD)和自身免疫性肝炎(AIH)重叠,使诊断和治疗复杂化。本研究介绍了三例SCA患者诊断为DAD,突出了诊断挑战和治疗结果。我们的目标是强调SCA的腹部症状如何掩盖DAD的存在,从而导致潜在的误诊。我们回顾了这些发现在临床实践中的意义,并将其与文献进行了比较,以强调识别和区分这些疾病以避免治疗延误的重要性。
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引用次数: 0
Psychological well-being and quality of life in pediatric patients with inflammatory bowel disease in clinical remission. 儿童炎症性肠病患者临床缓解期的心理健康和生活质量
Pub Date : 2025-07-09 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70064
David L Suskind, Erin Vale, Joy Kawamura, Kendra Francis, Ghassan Wahbeh, Dale Lee, Brooke Musburger, Hengqi B Zheng, Naomi Schwartz

Objectives: Pediatric inflammatory bowel disease (IBD) presents significant psychological challenges, including anxiety and depression. This study investigates the prevalence of depression and anxiety symptoms in pediatric IBD patients in remission and examines the correlation between patient and parental assessments of these symptoms.

Methods: Patients with a diagnosis of Crohn's disease (CD), ulcerative colitis, or IBD-unclassified (IBD-U) aged 1-21 years in clinical remission as measured by the pediatric CD activity index or pediatric ulcerative colitis activity index were enrolled. Demographic data and patient psychological well-being were assessed using the IMPACT-III and the patient-reported outcomes measurement information system (PROMIS) emotional distress depression short-form 8a and anxiety short-form 8a.

Results: Forty-eight pediatric IBD patients and their parents completed psychological assessments. Prevalence of anxiety and depression were 29.1% and 14.5%, respectively. A moderate inverse correlation between PROMIS depression and anxiety scores, and quality of life was observed. Strong correlations were observed between child- and parent-reported PROMIS scores for both anxiety (r = 0.68) and depression (r = 0.75).

Conclusions: These findings underscore the persistent burden of anxiety and depression in pediatric IBD patients and the valuable role of parental assessments in identifying psychological distress. Routine screening is essential for improving outcomes in this population.

目的:儿童炎症性肠病(IBD)呈现出显著的心理挑战,包括焦虑和抑郁。本研究调查了儿童IBD缓解期患者抑郁和焦虑症状的患病率,并检查了患者和父母对这些症状的评估之间的相关性。方法:通过儿童CD活动指数或儿童溃疡性结肠炎活动指数测量,年龄在1-21岁、临床缓解的诊断为克罗恩病(CD)、溃疡性结肠炎或ibd -未分类(IBD-U)的患者入组。采用IMPACT-III和患者报告结果测量信息系统(PROMIS)评估人口统计数据和患者心理健康状况。结果:48例小儿IBD患者及其家长完成了心理评估。焦虑和抑郁患病率分别为29.1%和14.5%。观察到PROMIS抑郁和焦虑评分与生活质量之间存在中度负相关。在儿童和家长报告的PROMIS焦虑(r = 0.68)和抑郁(r = 0.75)得分之间观察到很强的相关性。结论:这些发现强调了儿童IBD患者持续存在的焦虑和抑郁负担,以及父母评估在识别心理困扰方面的重要作用。常规筛查对于改善这一人群的预后至关重要。
{"title":"Psychological well-being and quality of life in pediatric patients with inflammatory bowel disease in clinical remission.","authors":"David L Suskind, Erin Vale, Joy Kawamura, Kendra Francis, Ghassan Wahbeh, Dale Lee, Brooke Musburger, Hengqi B Zheng, Naomi Schwartz","doi":"10.1002/jpr3.70064","DOIUrl":"10.1002/jpr3.70064","url":null,"abstract":"<p><strong>Objectives: </strong>Pediatric inflammatory bowel disease (IBD) presents significant psychological challenges, including anxiety and depression. This study investigates the prevalence of depression and anxiety symptoms in pediatric IBD patients in remission and examines the correlation between patient and parental assessments of these symptoms.</p><p><strong>Methods: </strong>Patients with a diagnosis of Crohn's disease (CD), ulcerative colitis, or IBD-unclassified (IBD-U) aged 1-21 years in clinical remission as measured by the pediatric CD activity index or pediatric ulcerative colitis activity index were enrolled. Demographic data and patient psychological well-being were assessed using the IMPACT-III and the patient-reported outcomes measurement information system (PROMIS) emotional distress depression short-form 8a and anxiety short-form 8a.</p><p><strong>Results: </strong>Forty-eight pediatric IBD patients and their parents completed psychological assessments. Prevalence of anxiety and depression were 29.1% and 14.5%, respectively. A moderate inverse correlation between PROMIS depression and anxiety scores, and quality of life was observed. Strong correlations were observed between child- and parent-reported PROMIS scores for both anxiety (<i>r</i> = 0.68) and depression (<i>r</i> = 0.75).</p><p><strong>Conclusions: </strong>These findings underscore the persistent burden of anxiety and depression in pediatric IBD patients and the valuable role of parental assessments in identifying psychological distress. Routine screening is essential for improving outcomes in this population.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 4","pages":"444-450"},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544079","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 case of lactobezoar: Outpatient management in a neonate. 乳牛黄1例:新生儿门诊治疗。
Pub Date : 2025-07-07 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70061
Shivani Kamal, Sayeh Akhavan, Joshua Warolin, Ayesha Baig

A lactobezoar is a conglomerate of undigested and partially digested milk components and is the most common form of bezoar in infants. Described treatments include hospitalization for intravenous fluids and cessation of feeds, endoscopy with administration of N-acetyl cysteine, and surgical or endoscopic removal. We report a case of a 5-month-old infant with a history of prematurity of 28 weeks, with poor feeding and emesis, found to have a gastric lactobezoar on imaging without signs of obstruction that was managed without surgical intervention. This case presentation describes the successful treatment of a patient with 100% whey formula for the treatment of lactobezoar, avoiding invasive treatment and hospitalization.

乳牛黄是一种未消化和部分消化的牛奶成分,是婴儿中最常见的牛黄形式。所描述的治疗方法包括住院静脉输液和停止进食,内窥镜检查并给予n -乙酰半胱氨酸,手术或内窥镜切除。我们报告一例5个月大的婴儿,早产28周,喂养不良和呕吐,影像学发现胃乳糜泻,无梗阻迹象,未经手术治疗。本病例介绍描述了100%乳清配方乳牛黄治疗患者的成功治疗,避免了侵入性治疗和住院治疗。
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引用次数: 0
Portal venous gas: A benign finding in pyloric stenosis? 门静脉气体:幽门狭窄的良性发现?
Pub Date : 2025-07-07 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70051
Kelci Butler, Tiffany Patton

Pyloric stenosis is a condition of infancy characterized by hypertrophy of the pylorus, which can progress to significant narrowing and near-obstruction of the gastric outlet. We describe a case of a patient with pyloric stenosis who was incidentally found to have portal venous gas on ultrasound. While the presence of portal venous gas can be an ominous finding, this case demonstrates that in the setting of pyloric stenosis, portal venous gas may be benign in nature. Additionally, we compile information from previous studies to further promote general recognition of this association and propose potential future standardization of care for these patients with an apparent benign finding.

幽门狭窄是婴儿期以幽门肥大为特征的一种疾病,可发展为胃出口明显狭窄和近梗阻。我们描述一个病例的病人幽门狭窄是偶然发现有门静脉气体超声。虽然门静脉气体的存在可能是一种不祥的发现,但本病例表明,在幽门狭窄的情况下,门静脉气体可能是良性的。此外,我们从以前的研究中收集信息,以进一步促进对这种关联的普遍认识,并提出对这些明显良性发现的患者的潜在的未来标准化护理。
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引用次数: 0
Chronic atrial and intestinal dysrythmia syndrome: A late-onset intestinal pseudo-obstruction and cardiac dysfunction due to an SGO1 mutation. 慢性心房和肠道心律失常综合征:由SGO1突变引起的迟发性肠假性梗阻和心功能障碍。
Pub Date : 2025-07-03 eCollection Date: 2025-11-01 DOI: 10.1002/jpr3.70060
Linda Adouane, Pierre Poinsot, Julie Castilloux, Dorothée Dal Soglio, Christophe Faure

Objectives: Pediatric intestinal pseudo-obstruction (PIPO) is a rare, heterogeneous, and severe gut motility disorder. In 2014, Chetaille et al. described chronic atrial and intestinal dysrhythmia (CAID) syndrome associated with a recessive SGO1 mutation (p.Lys23Glu) linking it to both intestinal pseudo-obstruction and cardiac dysrhythmia. This study aimed to describe the clinical and nutritional features and outcomes of pediatric patients with the homozygous SGO1 (p.Lys23Glu) mutation.

Methods: We retrospectively enrolled children under 18 years with PIPO and homozygous (p.Lys23Glu) SGO1 mutation.

Results: Eight patients were included (five girls), two were first-degree relatives. All exhibited a typical PIPO clinical presentation, but with a later onset than usually seen in primary PIPO (median age: 6.3 years). Contrast studies revealed massively distended small bowel and colon in all patients. Antroduodenal and/or colonic manometry, performed in six patients, revealed a neuropathic pattern. A full-thickness intestinal biopsy showed variable fibrosis of the smooth muscle internal layer associated with an abnormal presence of Cajal cells within the muscular layers. All patients required parenteral nutrition (PN) at a median age of 11.8 years. Five patients needed an ileostomy. At 18 years, one patient was off PN. Three patients developed sinus dysfunction: one at the time of PIPO diagnosis and two later. All required pacemakers. One patient died in her twenties secondary to cardiac complications.

Conclusions: Recessive SGO1 mutation is a form of late onset PIPO associated with sinus dysfunction. Long-term outcome is unclear. Cardiac, intestinal, and neurologic follow-up is recommended as cerebral small vessel disease has been described in adults.

目的:小儿假性肠梗阻(PIPO)是一种罕见的、异质性的、严重的肠道运动障碍。2014年,Chetaille等人描述了慢性心房和肠道心律失常(CAID)综合征与隐性SGO1突变(p.Lys23Glu)相关,将其与肠道假性梗阻和心脏心律失常联系起来。本研究旨在描述纯合子SGO1 (p.Lys23Glu)突变儿童患者的临床和营养特征及结局。方法:我们回顾性地招募了18岁以下PIPO和纯合子(p.Lys23Glu) SGO1突变的儿童。结果:8例患者(5例女孩),2例为一级亲属。所有患者均表现出典型的PIPO临床表现,但发病时间晚于原发性PIPO(中位年龄:6.3岁)。对比研究显示,所有患者的小肠和结肠均大幅膨胀。在6例患者中进行的胃十二指肠和/或结肠测压显示出神经性病变。全层肠活检显示平滑肌内层可变纤维化,肌肉层内Cajal细胞异常存在。所有患者均需要肠外营养(PN),中位年龄为11.8岁。5例患者需要回肠造口术。18年时,有一名患者停用了PN。3例患者出现鼻窦功能障碍:1例在PIPO诊断时,2例在诊断后。都需要心脏起搏器。一名患者在20多岁时死于心脏并发症。结论:隐性SGO1突变是一种与窦功能障碍相关的晚发性PIPO。长期结果尚不清楚。心脏、肠道和神经系统的随访被推荐,因为在成人中有脑血管疾病的描述。
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引用次数: 0
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