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Evaluation of Swallowing Coordination in Infants with a History of Mechanical Ventilation Longer Than 7 Days in the Neonatal Period and Assessment of Response to Oral Stimulation Maneuver 新生儿期机械通气史超过7天的婴儿吞咽协调能力评估及对口服刺激手法的反应评估
IF 0.5 4区 医学 Q4 PEDIATRICS Pub Date : 2023-06-20 DOI: 10.5812/ijp-135552
M. Asgarshirazi, M. Shariat, Raheleh Moradi, Z. Farahani, Farzaneh Ziaei
Background: Dysphagia is a frequent complication defined as difficulty in any stage of swallowing. Infants with a history of mechanical ventilation might show difficulty in coordinating pharyngeal muscles resulting in dysphagia. Objectives: The present study aimed to show the prevalence of swallowing disorders and associated symptoms among high-risk infants with a history of prolonged mechanical ventilation. Methods: A quasi-experimental study was conducted at the Breastfeeding Research Center, Tehran, Iran. All the neonates with a history of prolonged mechanical ventilation entered the study. Parents were asked to respond to a provided questionnaire regarding their infants’ swallowing disorders. Accordingly, the infants with any symptoms were considered candidates for intervention. The parents also received simple training to perform oral sensorimotor stimulation protocol for their children. Through a follow-up visit, the questionnaire was filled up for every infant. Finally, all the data related to the responses before and after interventions were compared to show the possible effects of the interventions. Results: A total of 25 infants entered the study. The mean mechanical ventilation period was 15.95 ± 6.644 days. Concerning the frequency of swallowing complications, 24 infants (96%) had different degrees of dysphagia. After 3 - 6 months of interventions, the number of cases with symptoms of coughing (P = 0.016), spitting food out by mouth (P = 0.0001), choking (P = 0.016), humid breath (P = 0.031), poor weight gain (P = 0.002), and the need to cut food into small pieces (P = 0.004) was significantly lower than the number of cases suffering from such complications before the intervention. The results also showed that after 3 - 6 months of interventions, dysphagia symptoms in 10 out of 24 infants (41.66%) entirely and in others (38.44%) partially improved. Conclusions: The results of the present study delineated that infants with a history of prolonged mechanical ventilation were at greater risk of swallowing complications. The early diagnosis and implementation of oral sensorimotor interventions could improve different symptoms of dysphagia.
背景:吞咽困难是一种常见的并发症,定义为吞咽任何阶段的困难。有机械通气史的婴儿可能表现出咽肌协调困难,导致吞咽困难。目的:本研究旨在显示有长期机械通气史的高危婴儿中吞咽障碍及相关症状的患病率。方法:在伊朗德黑兰母乳喂养研究中心进行准实验研究。所有有长期机械通气史的新生儿均进入研究。父母被要求回答一份关于婴儿吞咽障碍的问卷。因此,有任何症状的婴儿都被认为是干预的候选人。父母还接受了简单的训练,为他们的孩子执行口腔感觉运动刺激方案。通过随访,每个婴儿都填写了问卷。最后,将所有与干预前后反应相关的数据进行比较,以显示干预可能产生的效果。结果:共有25名婴儿进入研究。平均机械通气时间15.95±6.644 d。在吞咽并发症发生率方面,有24例(96%)患儿存在不同程度的吞咽困难。干预3 ~ 6个月后,出现咳嗽(P = 0.016)、口吐食物(P = 0.0001)、窒息(P = 0.016)、呼吸潮湿(P = 0.031)、体重增加不明显(P = 0.002)、需要将食物切成小块(P = 0.004)等症状的病例数明显低于干预前。结果还显示,干预3 - 6个月后,24名婴儿中有10名(41.66%)吞咽困难症状完全改善,其余(38.44%)部分改善。结论:本研究的结果表明,有长期机械通气史的婴儿发生吞咽并发症的风险更大。早期诊断和实施口腔感觉运动干预可以改善吞咽困难的不同症状。
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引用次数: 0
The Efficacy of Intrapleural Fibrinolytic Agents Following Surgical Intervention for Empyema Thoracis: A Prospective Cross-Sectional Study in a Pediatric Population 胸膜内纤溶药物治疗胸脓胸手术后的疗效:一项儿科人群的前瞻性横断面研究
IF 0.5 4区 医学 Q4 PEDIATRICS Pub Date : 2023-06-20 DOI: 10.5812/ijp-136509
M. Sarafi, L. Mohajerzadeh, M. Ebrahimian, Mahdokht Siavashi, Gholamreza Ebrahimi, N. Farahbakhsh, M. Hajipour, N. Mahdavi, Behnaz Niroomand
Background: Intrapleural instillation of fibrinolytic agents is novel in treating empyema. Although the efficacy of this method for treating empyema remains a topic of debate among experts, several studies have shown that the results of this technique are almost equivalent to surgical operations in the lower stages of the disease. However, in more advanced stages of empyema, surgery may be required. Despite the worldwide use of fibrinolytic agents instead of surgical procedures, the benefits of using these agents postoperatively still need to be defined. Objectives: In this prospective study, we aimed to compare the effects of streptokinase and alteplase in managing empyema in patients who underwent any surgical operations. Methods: We prospectively compared the outcomes of using alteplase and streptokinase in children who underwent surgical operations for empyema between 2015 and 2022. Following the surgery, fibrinolytic agents were instilled through thoracostomy tubes according to a specific protocol. The length of stay, frequency of complications, need for another surgery, and mortality were measured in each group. Results: Among 53 patients who met the inclusion criteria, 31 (58.5%) patients received streptokinase postoperatively, while the others were treated using alteplase. The length of stay after the surgery, wound infection, and mortality rate did not differ significantly between the groups (P-value = 0.394, 0.080, 0.767, respectively). However, the need for another surgery due to unexpanded lungs was significantly lower in the alteplase group (0% vs. 19.4%, P = 0.028). Conclusions: Alteplase as an intrapleural fibrinolytic is more effective than streptokinase in patients who underwent surgical operations due to empyema. The need for another surgery following the instillation of alteplase through chest tubes postoperatively may be decreased.
背景:胸腔内灌注溶纤剂是治疗脓胸的新方法。尽管这种方法治疗脓胸的疗效在专家中仍有争议,但一些研究表明,在疾病的较低阶段,这种技术的结果几乎相当于外科手术。然而,在更晚期的脓胸,可能需要手术。尽管在世界范围内使用纤溶药物代替外科手术,但术后使用这些药物的益处仍然需要明确。目的:在这项前瞻性研究中,我们旨在比较链激酶和阿替普酶在治疗任何外科手术患者的脓胸中的作用。方法:我们前瞻性地比较了2015年至2022年期间,阿替普酶和链激酶在接受外科手术治疗脓胸的儿童中的效果。手术后,根据特定的方案,通过开胸管灌注纤溶剂。测量每组患者的住院时间、并发症发生频率、再次手术的必要性和死亡率。结果:53例符合纳入标准的患者中,31例(58.5%)患者术后接受了链激酶治疗,其余患者采用阿替普酶治疗。两组患者术后住院时间、伤口感染、死亡率差异无统计学意义(p值分别为0.394、0.080、0.767)。然而,阿替普酶组因肺部未扩张而需要再次手术的患者明显较低(0% vs. 19.4%, P = 0.028)。结论:阿替普酶作为胸膜内纤溶剂治疗因胸肿而行外科手术的患者比链激酶更有效。术后经胸管滴注阿替普酶后再次手术的需要可能会减少。
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引用次数: 0
Inborn Errors of Metabolism in Iran: First Report from Iran Metabolic Registry 伊朗代谢的先天性错误:来自伊朗代谢登记处的第一份报告
IF 0.5 4区 医学 Q4 PEDIATRICS Pub Date : 2023-06-19 DOI: 10.5812/ijp-130939
F. Abbasi, Saideh Abdolahpour, Reihaneh Mohsenipour, A. Rabbani, Ali Talea, A. Mohebbi, M. Khazdouz
Background: Inborn errors of metabolism (IEMs) comprise over 1,000 disorders. Wide geographical and racial variations in the global birth prevalence and their inheritance patterns have been reported by epidemiological studies. Methods: Iran's Metabolic Registry was launched in March 2017. All patients diagnosed with IEM registered in the Iran Metabolic Registry from 2017 to July 2022 were included in this study. Results: During the five years, 1,233 patients were recorded in the database. Due to missing data, 320 patients were excluded from the study. Of the 913 registered patients, 402 were female, and 511 were male. The median age of registered patients was 10.3 years (one week to 48.3 years). The most prevalent group of IEMs was amino acid disorders, with 596 (66.6%) patients. The mortality rate of the patients was 36.5%. Conclusions: This study represents the first report from the IEM registry. A comprehensive registry of IEMs for collecting patient data will help clinicians with more accurate diagnoses of the disorders, monitoring, and follow-up. Furthermore, by estimating the burden of IEMs, the healthcare system and government could accurately assess the medication and equipment needed.
背景:先天性代谢错误(IEMs)包括1000多种疾病。流行病学研究报告了全球出生流行率及其遗传模式的广泛地理和种族差异。方法:伊朗的代谢登记处于2017年3月启动。2017年至2022年7月在伊朗代谢登记处登记的所有诊断为IEM的患者均纳入本研究。结果:在5年的时间里,数据库中记录了1233例患者。由于数据缺失,320例患者被排除在研究之外。在913名登记病人中,女性402人,男性511人。登记患者的中位年龄为10.3岁(1周到48.3岁)。最常见的是氨基酸紊乱,596例(66.6%)。患者死亡率为36.5%。结论:本研究是来自IEM注册中心的第一份报告。收集患者数据的综合内科医生登记处将有助于临床医生更准确地诊断疾病、监测和随访。此外,通过估算内科医生的负担,医疗保健系统和政府可以准确地评估所需的药物和设备。
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引用次数: 0
Virtual and In-person Electroencephalography (EEG) Training among Pediatric and Adult Neurology Residents during the COVID-19 Pandemic COVID-19大流行期间儿科和成人神经内科住院医师的虚拟和真人脑电图(EEG)培训
IF 0.5 4区 医学 Q4 PEDIATRICS Pub Date : 2023-06-07 DOI: 10.5812/ijp-128717
Mahmoud Mohammadi, R. S. Badv, G. Zamani, M. Ashrafi, Morteza Heidari, Zahra Rezaei, Mehran Beiraghi Toosi, Mahmoud Reza Zitatzadeh, Homa Ghabeli, R. Haghighi, E. Pourbakhtyaran
Background: During the COVID-19 pandemic, educational programs have increasingly relied on virtual methods. Objectives: In this study, we compared the effects of in-person and virtual electroencephalography (EEG) training on the knowledge of pediatric and adult neurology residents. Methods: The study participants consisted of 30 pediatric and adult neurology residents who were recruited nationwide via a virtual network. They were randomly divided into two groups for in-person and virtual education, respectively. Prior to the first workshop session, participants completed a pre-test comprising 19 knowledge-related questions. Two interactive training sessions focusing on benign variants in EEG were conducted, including two in-person workshops for eight residents and two online workshops for 22 residents. Each session lasted one hour, with one held every two weeks. After the second session, participants were asked to complete a post-test consisting of 24 questions (identical to the pre-test) and five workshop satisfaction-related questions. Results: Overall, the mean exam score after both the in-person and virtual workshops was significantly higher than the pretest score across all educational levels. The mean score differences in knowledge between the in-person and virtual groups after the workshop were similar, with no statistically significant difference. Approximately 90% of the participants believed that the workshop would be beneficial for their daily practice. Conclusions: Given the absence of a significant difference between in-person and virtual training methods in improving participants' knowledge and satisfaction with both approaches, we recommend integrating virtual EEG training into the educational protocol for pediatric and adult neurology residents. Nonetheless, larger sample size studies are required to further validate these findings.
背景:在2019冠状病毒病大流行期间,教育项目越来越依赖虚拟方法。目的:在本研究中,我们比较了面对面和虚拟脑电图(EEG)培训对儿科和成人神经内科住院医师知识的影响。方法:研究参与者包括30名儿科和成人神经内科住院医师,他们是通过虚拟网络在全国范围内招募的。他们被随机分为两组,分别接受面对面和虚拟教育。在第一次研讨会之前,参与者完成了一个包含19个知识相关问题的预测试。开展了两次以脑电图良性变异为重点的互动培训,包括两次面向8名住院医生的现场培训和两次面向22名住院医生的在线培训。每次会议持续一小时,每两周举行一次。在第二次会议之后,参与者被要求完成一个由24个问题(与前测试相同)和5个与研讨会满意度相关的问题组成的后测试。结果:总体而言,面对面和虚拟研讨会后的平均考试成绩显著高于所有教育水平的考试前得分。工作坊结束后,面对面小组和虚拟小组在知识方面的平均得分差异相似,没有统计学上的显著差异。大约90%的参与者认为工作坊对他们的日常练习有益。结论:鉴于面对面培训和虚拟培训在提高参与者的知识和满意度方面没有显著差异,我们建议将虚拟脑电图培训纳入儿科和成人神经内科住院医师的教育方案中。然而,需要更大样本量的研究来进一步验证这些发现。
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引用次数: 0
Jujube Versus Polyethylene Glycol for Maintenance Treatment of Pediatric Functional Constipation: A Randomized Clinical Trial 红枣与聚乙二醇维持治疗儿童功能性便秘:一项随机临床试验
IF 0.5 4区 医学 Q4 PEDIATRICS Pub Date : 2023-05-21 DOI: 10.5812/ijp-131550
A. Yousefi, Nasim Behnoud, A. Ghobadi, F. Amini Behbahani, E. Norouzi
Background: Functional constipation (FC) is a common major problem in children. This study compared Jujube paste and polyethylene glycol (PEG) as laxative drugs in children with FC. Ziziphus Jujuba Mill (Jujube) was selected according to traditional Iranian medicine because it is native to Iran and a large extent of Asia, is safe and easy to access, with acceptable taste to children. Methods: This randomized controlled clinical trial was performed on 128 children aged 2 to 12 with FC according to Rome IV criteria. Patients were randomly divided into two groups of Jujube paste and PEG and underwent four weeks of treatment. The efficacy, safety, and tolerability of the Jujube oral product were compared with PEG. Results: Following four weeks of therapy, all clinical symptoms of constipation according to Rome IV criteria were improved significantly in both groups (P < 0.05). In all the seven criteria of Rome IV, Jujube paste was as effective as PEG and even stronger in reducing stool stiffness (P < 0.0001). No hazardous side effect was reported in the two groups. Moreover, the medication acceptance rate was higher in the group receiving Jujube paste than in the group receiving PEG. Conclusions: Jujube paste is as effective as PEG in pediatric FC. This product has high nutritional value and antioxidant properties, so it can be a safe substitute for PEG in pediatric FC.
背景:功能性便秘(FC)是儿童常见的主要问题。本研究比较了红枣膏和聚乙二醇(PEG)作为FC患儿的泻药。Ziziphus Jujuba Mill(枣)是根据伊朗传统医学选择的,因为它原产于伊朗和亚洲的大部分地区,安全,易于获取,儿童可接受的味道。方法:本随机对照临床试验对128名2 ~ 12岁FC患儿进行临床试验,符合Rome IV标准。将患者随机分为红枣膏和聚乙二醇两组,进行为期四周的治疗。比较了红枣口服制品与聚乙二醇的疗效、安全性和耐受性。结果:治疗4周后,两组按Rome IV标准便秘临床症状均明显改善(P < 0.05)。在Rome IV的所有7个标准中,枣膏在降低大便僵硬方面与PEG一样有效,甚至更强(P < 0.0001)。两组均无危险副作用的报道。同时,红枣膏组的用药接受率高于PEG组。结论:红枣膏治疗小儿FC的疗效与PEG相当。本品具有较高的营养价值和抗氧化性能,可作为小儿FC中PEG的安全替代品。
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引用次数: 0
Compare Indications and Findings of Fiberoptic Bronchoscopy in Children Before and During the COVID-19 Outbreak 比较COVID-19爆发前和期间儿童纤维支气管镜检查的适应症和结果
IF 0.5 4区 医学 Q4 PEDIATRICS Pub Date : 2023-05-18 DOI: 10.5812/ijp-129708
Niloufar Ghanbari, Faezeh Badkoubeh, R. Shirzadi, M. Modaresi, B. Sadeghi, Zahra Hosseinpour Dahka, S. H. Mirlohi
Background: The coronavirus disease 2019 (COVID-19) dramatically impacts healthcare delivery. Pulmonary diagnostic procedures have had frequent disruptions during this pandemic. Objectives: This study aimed to discover how the COVID-19 pandemic affected pediatric flexible fiberoptic bronchoscopy. Methods: This retrospective cross-sectional study was carried out on pediatric patients who underwent fiberoptic bronchoscopy at a tertiary pediatric hospital affiliated to Tehran University of Medical Sciences. Procedural analysis was done from 20 March 2019 to 20 February 2020 (the pre-pandemic period) and 20 March 2020 to 20 February 2021 (during the pandemic period). The two groups were compared with regard to bronchoscopic indications and findings. Results: Our results from the data registry showed that within (group 1), 290 patients vs. 241 patients from 20 March 2020 till 20 February 2021 (group 2) were admitted to the operation room at least once for bronchoscopy procedures. Although the findings of foreign body aspiration in bronchoscopy were more frequent in group 2, this difference was not significant in the two groups (P = 0.055). The number of cases without abnormality in group 2 was significantly less than in group 1 (P = 0.006). The prevalence of Laryngomalacia was also significantly higher in group 2 (P = 0.000). Conclusions: Our results confirmed the reduction of bronchoscopy in children after the COVID-19 epidemic. However, there was no change in the immediate indications for bronchoscopy, and this pandemic had the most significant impact on elective bronchoscopy.
背景:2019冠状病毒病(COVID-19)严重影响医疗保健服务。在本次大流行期间,肺部诊断程序经常中断。目的:本研究旨在了解COVID-19大流行对儿童柔性纤维支气管镜检查的影响。方法:本回顾性横断面研究是对在德黑兰医科大学附属三级儿科医院接受纤维支气管镜检查的儿童患者进行的。在2019年3月20日至2020年2月20日(大流行前期)和2020年3月20日至2021年2月20日(大流行期间)进行了程序分析。比较两组的支气管镜适应症和检查结果。结果:我们的数据登记结果显示,在(1组)中,从2020年3月20日至2021年2月20日(2组),290例患者对241例患者至少入住一次手术室进行支气管镜检查。虽然第2组支气管镜异物吸入发生率较高,但两组间差异无统计学意义(P = 0.055)。2组无异常例数明显少于1组(P = 0.006)。喉软化症的患病率在第2组也显著增高(P = 0.000)。结论:我们的研究结果证实了COVID-19流行后儿童支气管镜检查的减少。然而,支气管镜检查的直接适应症没有变化,这次大流行对选择性支气管镜检查的影响最为显著。
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引用次数: 0
Application of a Pre-examination and Triage of Children in Fever Clinics to Prevent and Control the Epidemic of Infectious Diseases 发热门诊儿童预检分诊在传染病防控中的应用
4区 医学 Q4 PEDIATRICS Pub Date : 2023-05-06 DOI: 10.5812/ijp-134112
Cangcang Fu, Bing Han Wang, Lin Li, Jihua Zhu, Wei Li
Background: The global spread of coronavirus disease 2019 (COVID-19) has reached pandemic proportions. Attempts to control its spread have included a range of early screening and triage measures developed in several nations and areas. Objectives: This study aimed to determine how to prioritize pediatric fever patients to limit the time they had to wait for a consultation and, therefore, the potential of worsening and crises under the burden of COVID-19. Methods: The triage and emergency care process of children in the Fever Clinic of Children’s Hospital of Zhejiang University School of Medicine, Zhejiang, China, within 2019 - 2020 included flow charts, guidance signs, publicity materials, noon and night articulation, and emergency calls. To enhance the management of pre-consultation and triage, the incidence of adverse event injuries was tallied, and satisfaction surveys were conducted. The prevalence of infectious diseases was characterized by demographic and seasonal factors, and the chi-square test was employed to test for differences between groups. Results: From January 2019 to December 2020, four peak periods were observed in each year, namely February, July, September, and December in 2019 and March, June, September, and December in 2020. The peak of common respiratory virus infection was seasonal; however, a significant increase (χ2 = 52.17; P < 0.001) in the case of patients who needed emergency care was observed secondary to fever. The patients within the age range of 1 - 3 years were more in need of emergency care than any other age group (54.70%; 99/181). The most common disease requiring emergency care was febrile convulsions (55.2%). No infectious diseases were missed or underreported during the study period, and no medical personnel was infected. Conclusions: An effective pre-consultation assessment and triage management system and streamlined workflow are of great importance in safeguarding acute patients while preventing infectious diseases.
背景:2019冠状病毒病(COVID-19)的全球传播已达到大流行的程度。控制其传播的努力包括在一些国家和地区制定了一系列早期筛查和分类措施。目的:本研究旨在确定如何优先考虑儿科发烧患者,以限制他们等待会诊的时间,从而减少在COVID-19负担下病情恶化和危机的可能性。方法:对2019 - 2020年浙江大学医学院附属儿童医院发热门诊儿童分诊及急诊流程进行流程图、引导标志、宣传品、中午及夜间发音、急诊呼叫等分析。为加强会诊前和分诊管理,统计不良事件伤害发生率,并进行满意度调查。传染病流行以人口统计学和季节性因素为特征,组间差异采用卡方检验。结果:2019年1月至2020年12月,每年出现4个发病高峰期,分别为2019年2月、7月、9月、12月和2020年3月、6月、9月、12月。常见呼吸道病毒感染有季节性高峰;差异有统计学意义(χ2 = 52.17;P & lt;0.001),在需要紧急护理的患者中,继发于发烧。1 ~ 3岁的患者比其他年龄组更需要急诊治疗(54.70%;99/181)。需要急诊治疗的最常见疾病是热性惊厥(55.2%)。研究期间无传染病漏报或少报,无医务人员感染。结论:有效的会诊前评估和分诊管理制度和简化的工作流程对保护急性患者,预防传染病具有重要意义。
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引用次数: 0
The Association of Leptin Gene Polymorphisms with Crohn's Disease in a Chinese Pediatric Population 中国儿科人群中瘦素基因多态性与克罗恩病的关系
IF 0.5 4区 医学 Q4 PEDIATRICS Pub Date : 2023-04-22 DOI: 10.5812/ijp-135345
Anna Sun, Wei Li, Jianrong Shi, Hongya Wang, X. Shu, Shiqiang Shang
Background: Leptin is thought to play an important role in Crohn's disease (CD) pathogenesis and progression. Independent studies have revealed a strong upregulation of leptin expression in the mesenteric fat of CD patients. Objectives: This study assessed the relationship between leptin gene polymorphisms and CD susceptibility in a Chinese pediatric population. Methods: A total of 86 patients with CD and 142 healthy controls were recruited for this case-control study. The genotypes of 4 single-nucleotide polymorphisms (SNPs; rs2071045, rs41457646, rs11761556, and rs2167270) in the leptin gene were determined by multiplex polymerase chain reaction (PCR) combined with next-generation sequencing. Results: We found that leptin rs2167270 had a significantly different distribution of alleles and genotypes between CD patients and healthy controls (G is a risk allele: 83.7% of cases vs 72.5% of controls; odds ratio [OR] 1.947; 95% CI, 1.203-3.151; P = 0.006; GG is a risk genotype: 72.1% of cases vs 53.5% of controls; P = 0.021). Patients with the CC genotype (rs2071045) had a significantly increased risk of early onset of CD (58.3% in A1a vs 31.1% in A1b; P = 0.003). Similarly, patients carrying the G allele (100% in A1a vs 84.1% in A1b; P = 0.015) and GG genotype (100% in A1a vs 71.0% in A1b; P = 0.048) of rs41457646, A allele (93.3% in A1a vs 71.8% in A1b; P = 0.013) and AA genotype (93.3% in A1a vs 47.9% in A1b; P = 0.003) in rs11761556 had a higher risk of early onset of CD. However, there was no significant difference in any of these 4 SNPs between patients with and without perianal lesions, as well as in low and normal body mass index (BMI) patients. Conclusions: The leptin rs2167270 polymorphism is associated with the susceptibility to CD in a Chinese pediatric population. Leptin rs2071045, rs41457646, and rs11761556 might lead to the early onset of pediatric CD.
背景:瘦素被认为在克罗恩病(CD)的发病和进展中起重要作用。独立研究揭示了CD患者肠系膜脂肪中瘦素表达的强烈上调。目的:本研究评估中国儿童瘦素基因多态性与乳糜泻易感性之间的关系。方法:共招募86例乳糜泻患者和142名健康对照者进行病例对照研究。4个单核苷酸多态性(SNPs)的基因型;rs2071045, rs41457646, rs11761556,和rs2167270)通过多重聚合酶链反应(PCR)结合下一代测序检测。结果:我们发现瘦素rs2167270等位基因和基因型在CD患者和健康对照组之间的分布有显著差异(G是危险等位基因:83.7%的病例比72.5%的对照组;优势比[OR] 1.947;95% ci, 1.203-3.151;P = 0.006;GG是危险基因型:72.1%的病例vs 53.5%的对照组;P = 0.021)。CC基因型(rs2071045)患者早发性CD的风险显著增加(A1a为58.3%,A1b为31.1%;P = 0.003)。同样,携带G等位基因的患者(A1a为100%,A1b为84.1%;P = 0.015)和GG基因型(A1a为100%,A1b为71.0%;P = 0.048), A等位基因rs41457646 (A1a为93.3%,A1b为71.8%;P = 0.013)和AA基因型(A1a为93.3%,A1b为47.9%;P = 0.003)在rs11761556中有较高的早发性CD的风险。然而,在有和没有肛周病变的患者之间,以及在低和正常体重指数(BMI)的患者中,这4个snp中的任何一个都没有显著差异。结论:瘦素rs2167270多态性与中国儿童CD易感性相关。瘦素rs2071045、rs41457646和rs11761556可能导致儿童CD早发。
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引用次数: 0
Bile Acid Synthesis Disorder, the First Reported Case from Iran, (Proven by Genetic Study), How the Unavailability of Drug Affected the Course of Treatment 胆汁酸合成障碍,伊朗首例报告病例,(经遗传学研究证实),药物不可获得性如何影响治疗过程
IF 0.5 4区 医学 Q4 PEDIATRICS Pub Date : 2023-04-18 DOI: 10.5812/ijp-133741
F. Mahjoub, F. Motamed, Nakisa Niknejad, F. Farahmand, F. Hadipour, Pooria Asili
Introduction: Bile acid synthesis disorder is a very rare autosomal recessive disorder, which is mainly diagnosed by detecting mutations in the genes encoding enzymes that are involved in bile metabolism, including Δ4-3-oxosteroid-5β-reductase and 3β-Δ5-hydroxy-C27-steroid oxidoreductase. The enzymatic impairments can result in the accumulation of atypical and hepatotoxic bile acid intermediates, which clinically lead to cholestasis and progress to cirrhosis and hepatic failure. Herein, we describe a case of bile acid synthesis disorder diagnosed using molecular genetic assessment. Case Presentation: A 7-year-old girl is presented with failure to thrive since early in life. She had a history of urinary tract infection at four years of age. The sonography was performed at that time and revealed renal microcalculi. She also had a history of abdominal pain, nausea, and vomiting. She underwent upper endoscopies three times to rule out celiac disease; nevertheless, duodenal biopsies were all reported as normal. Muscle weakness was detected at five years of age and electromyography and muscle biopsy findings were non-specific. She underwent a whole-genome study and was diagnosed with bile acid synthesis disorder (BASD). After six months, she was treated with ursodeoxycholic acid, 250 mg, which led to growth compensation and liver enzyme reduction. No adverse effect was reported during the treatment. Conclusions: Bile acid synthesis disorder is a rare disorder with non-specific features and several organ involvements. It may take several years to achieve the correct diagnosis. To our knowledge, this is the first genetically confirmed case of bile acid synthesis disorder reported in Iran.
胆汁酸合成障碍是一种非常罕见的常染色体隐性遗传病,主要通过检测参与胆汁代谢的酶编码基因的突变来诊断,包括Δ4-3-oxosteroid-5β-reductase和3β-Δ5-hydroxy-C27-steroid氧化还原酶。酶损伤可导致非典型和肝毒性胆汁酸中间体的积累,在临床上导致胆汁淤积并进展为肝硬化和肝功能衰竭。在这里,我们描述了一个病例胆汁酸合成障碍诊断使用分子遗传评估。病例介绍:一名7岁女孩在生命早期就表现出发育不良。4岁时有尿路感染史。当时行超声检查,发现肾微结石。她还有腹痛、恶心和呕吐史。她接受了三次上消化道内窥镜检查,以排除乳糜泻;然而,十二指肠活检报告均正常。在5岁时检测到肌肉无力,肌电图和肌肉活检结果是非特异性的。她接受了全基因组研究,并被诊断为胆汁酸合成障碍(BASD)。6个月后,她接受了250毫克熊去氧胆酸治疗,导致生长补偿和肝酶降低。治疗期间无不良反应报告。结论:胆汁酸合成障碍是一种罕见的非特异性疾病,累及多个器官。可能需要几年的时间才能得到正确的诊断。据我们所知,这是伊朗报道的第一例胆汁酸合成障碍的遗传确诊病例。
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引用次数: 0
Dose Hydrocele in Children Caused by Ventriculoperitoneal Shunt Migration Always Need Surgical Intervention? Watch and Wait - A Rare Cause of Hydrocele 脑室-腹膜分流迁移引起的儿童鞘膜积液是否一定需要手术干预?观察和等待-鞘膜积液的罕见原因
IF 0.5 4区 医学 Q4 PEDIATRICS Pub Date : 2023-04-16 DOI: 10.5812/ijp-122323
Shih-Wei Tzeng, Ming-Cheng Tsai
Introduction: Ventriculoperitoneal (V-P) shunt is a common surgery for pediatric patients with hydrocephalus. Migration of the shunt to the scrotum is rare. Its clinical presentation may be silent if the shunt keeps patent. We describe such a case following the implantation of a V-P shunt with scrotal migration, with the tip still kept in the peritoneal cavity with patent function. We will discuss this rare complication and review the literature. Case Presentation: A 28-week-old boy presented preterm-related spontaneous intraventricular hemorrhage and hydrocephalus. The patient underwent surgery via V-P shunt implantation. One month after the operation, V-P shunt migration with the right hydrocele was diagnosed while the tip was still in the peritoneal cavity with a patent function. We adopted a watch-and-wait approach in which outpatient follow-up would be continued until the patient was 1.5 years old, when we would decide whether to perform hydrocele repair and correct the drainage tube malposition or continue follow-up. The patient was alert with good activity and close follow-up. Conclusions: Ventriculoperitoneal shunt migration with hydrocele in young children is a rare complication after the surgery. Regular follow-up up to 1.5 years old is recommended for patients with the tip in the peritoneal cavity and patent shunt function. Surgical intervention is suggested for cases with tip in the scrotum, shunt kinking, remarkable hydrocele, or hydrocephalus progression. Although V-P shunt migration is uncommon, we should take care of it to find out and solve the problem.
脑室-腹膜(V-P)分流术是儿科脑积水患者的常见手术。转移到阴囊是罕见的。如果分流器保持专利,其临床表现可能是沉默的。我们描述了这样一个病例,在植入一个阴囊迁移的V-P分流器后,其尖端仍然保留在腹膜腔中,具有专利功能。我们将讨论这种罕见的并发症并回顾文献。病例介绍:一个28周大的男孩表现出早产相关的自发性脑室内出血和脑积水。患者通过V-P分流植入手术。术后1个月确诊V-P分流伴右侧鞘膜积液,其尖端仍在腹膜腔内,功能通畅。我们采取观察等待的方式,继续门诊随访,直到患者1.5岁,再决定是否进行鞘膜积液修复和纠正引流管错位或继续随访。患者神志清醒,活动良好,随访密切。结论:小儿脑室-腹膜分流移位合并鞘膜积液是一种少见的术后并发症。对于尖端位于腹腔且分流功能未闭的患者,建议定期随访至1.5岁。对于有阴囊尖端、分流扭结、明显的鞘膜积液或脑积水进展的病例,建议手术干预。虽然V-P分流不常见,但我们应该注意发现并解决问题。
{"title":"Dose Hydrocele in Children Caused by Ventriculoperitoneal Shunt Migration Always Need Surgical Intervention? Watch and Wait - A Rare Cause of Hydrocele","authors":"Shih-Wei Tzeng, Ming-Cheng Tsai","doi":"10.5812/ijp-122323","DOIUrl":"https://doi.org/10.5812/ijp-122323","url":null,"abstract":"Introduction: Ventriculoperitoneal (V-P) shunt is a common surgery for pediatric patients with hydrocephalus. Migration of the shunt to the scrotum is rare. Its clinical presentation may be silent if the shunt keeps patent. We describe such a case following the implantation of a V-P shunt with scrotal migration, with the tip still kept in the peritoneal cavity with patent function. We will discuss this rare complication and review the literature. Case Presentation: A 28-week-old boy presented preterm-related spontaneous intraventricular hemorrhage and hydrocephalus. The patient underwent surgery via V-P shunt implantation. One month after the operation, V-P shunt migration with the right hydrocele was diagnosed while the tip was still in the peritoneal cavity with a patent function. We adopted a watch-and-wait approach in which outpatient follow-up would be continued until the patient was 1.5 years old, when we would decide whether to perform hydrocele repair and correct the drainage tube malposition or continue follow-up. The patient was alert with good activity and close follow-up. Conclusions: Ventriculoperitoneal shunt migration with hydrocele in young children is a rare complication after the surgery. Regular follow-up up to 1.5 years old is recommended for patients with the tip in the peritoneal cavity and patent shunt function. Surgical intervention is suggested for cases with tip in the scrotum, shunt kinking, remarkable hydrocele, or hydrocephalus progression. Although V-P shunt migration is uncommon, we should take care of it to find out and solve the problem.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"15 1","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82474824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Iranian Journal of Pediatrics
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