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Ultrasound elastography in children — nice to have for scientific studies or arrived in clinical routine? 儿童超声弹性成像-用于科学研究还是临床常规?
Pub Date : 2022-06-06 DOI: 10.1186/s40348-022-00143-1
H. Mentzel, K. Glutig, Stephanie Gräger, Paul C. Krüger, M. Waginger
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引用次数: 4
Long noncoding RNAs as regulators of pediatric acute myeloid leukemia. 长链非编码rna作为儿童急性髓性白血病的调节因子
IF 2.4 Q1 PEDIATRICS Pub Date : 2022-05-20 DOI: 10.1186/s40348-022-00142-2
Sina Neyazi, Michelle Ng, Dirk Heckl, Jan-Henning Klusmann

Long noncoding RNAs (lncRNAs) are increasingly emerging as regulators across human development and disease, and many have been described in the context of hematopoiesis and leukemogenesis. These studies have yielded new molecular insights into the contribution of lncRNAs to AML development and revealed connections between lncRNA expression and clinical parameters in AML patients. In this mini review, we illustrate the versatile functions of lncRNAs in AML, with a focus on pediatric AML, and present examples that may serve as future therapeutic targets or predictive factors.

长非编码 RNA(lncRNA)越来越多地成为人类发育和疾病的调控因子,许多长非编码 RNA 已在造血和白血病发生中被描述。这些研究对 lncRNA 在急性髓细胞性白血病发展中的作用有了新的分子认识,并揭示了 lncRNA 表达与急性髓细胞性白血病患者临床参数之间的联系。在这篇小型综述中,我们阐述了 lncRNA 在急性髓细胞性白血病(AML)中的多种功能,重点关注小儿急性髓细胞性白血病,并举例说明了可作为未来治疗靶点或预测因素的 lncRNA。
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引用次数: 0
How peritoneal dialysis transforms the peritoneum and vasculature in children with chronic kidney disease—what can we learn for future treatment? 腹膜透析如何改变儿童慢性肾脏疾病的腹膜和血管系统——我们对未来的治疗有什么了解?
Pub Date : 2022-05-05 DOI: 10.1186/s40348-022-00141-3
M. Bartosova, S. Zarogiannis, C. Schmitt, Klaus Gema Aysun K. Rainer Salim Rimante Dorota Sahar Gü Arbeiter Ariceta Bayazit Büscher Caliskan Cerkausk, K. Arbeiter, G. Ariceta, A. Bayazıt, R. Büscher, S. Çalışkan, R. Čerkauskienė, D. Drożdż, S. Fathallah-Shaykh, G. Klaus, R. Krmar, J. Oh, V. Peters, U. Querfeld, B. Ranchin, P. Sallay, B. Schaefer, C. Taylan, S. Testa, J. Vandewalle, E. Verrina, K. Vondrák, B. Warady, Y. Yap, A. Zaloszyc
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引用次数: 2
When inflammation meets lung development—an update on the pathogenesis of bronchopulmonary dysplasia 当炎症与肺发育相结合——支气管肺发育不良发病机制的最新进展
Pub Date : 2022-04-20 DOI: 10.1186/s40348-022-00137-z
Lena Holzfurtner, T. Shahzad, Ying Dong, Lisa Rekers, Ariane Selting, B. Staude, Tina Lauer, A. Schmidt, S. Rivetti, K. Zimmer, Judith Behnke, S. Bellusci, H. Ehrhardt
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引用次数: 18
Implementation of exclusive enteral nutrition in pediatric patients with Crohn's disease-results of a survey of CEDATA-GPGE reporting centers. 儿童克罗恩病患者独家肠内营养的实施- CEDATA-GPGE报告中心的调查结果
IF 2.4 Q1 PEDIATRICS Pub Date : 2022-04-05 DOI: 10.1186/s40348-022-00139-x
Sarah Peters, Serdar Cantez, Jan De Laffolie

Background: Exclusive enteral nutrition (EEN) is the first-line therapy for pediatric-onset Crohn's disease (CD) patients. CEDATA-GPGE® is the largest patient registry for children and adolescents with inflammatory bowel disease (IBD) in Europe, collecting data from over 5000 patients since 2004 in Germany and Austria. Since the application of EEN over 8 weeks is difficult and a high dropout rate is often described, the mode of application including a supporting structure is crucial for success. The aim of this study was to ascertain the variation in the application of EEN across the participating centers and to associate these with the outcome.

Results: Thirty-one centers responded to the survey (81.6%). 88.5% of CD patients were recommended EEN for induction therapy, 71.8% actually started with EEN, and 22.1% terminated the EEN prematurely. The duration of EEN typically lasted 6 to 8 weeks, and the polymeric formula was mainly used. 80.6% of the clinics added flavorings to the formulas. After EEN, the most preferred diet for maintenance therapy was a healthy, well-balanced diet considering individual intolerances.

Conclusions: EEN is widely recommended as an induction therapy by the German and Austrian pediatric gastroenterologists for children and adolescents with CD. However, this questionnaire-based study has shown a wide variation in EEN protocols used by the different pediatric clinics of CEDATA-GPGE®.

背景:纯肠内营养(EEN)是儿科克罗恩病(CD)患者的一线疗法。CEDATA-GPGE® 是欧洲最大的儿童和青少年炎症性肠病 (IBD) 患者登记处,自 2004 年以来收集了德国和奥地利 5000 多名患者的数据。由于在 8 周内应用 EEN 比较困难,而且经常有辍学率较高的描述,因此包括支持结构在内的应用模式是成功的关键。本研究的目的是确定各参与中心在应用 EEN 方面的差异,并将这些差异与结果联系起来:31个中心(81.6%)对调查做出了回应。88.5%的 CD 患者被推荐接受 EEN 诱导治疗,71.8%的患者实际开始接受 EEN,22.1%的患者提前终止了 EEN。肠易激综合征的治疗时间一般为 6 至 8 周,主要使用聚合配方。80.6%的诊所在配方奶粉中添加了香料。EEN 结束后,考虑到个体的不耐受性,最受欢迎的维持治疗饮食是健康、均衡的饮食:结论:德国和奥地利的儿科胃肠病专家广泛推荐将 EEN 作为 CD 儿童和青少年的诱导疗法。然而,这项基于调查问卷的研究表明,CEDATA-GPGE® 的不同儿科诊所所采用的 EEN 方案存在很大差异。
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引用次数: 0
Uni-ventricular palliation vs. bi-ventricular repair: differential inflammatory response 单心室缓解vs双心室修复:不同的炎症反应
Pub Date : 2022-03-20 DOI: 10.1186/s40348-022-00138-y
M. Sigler, H. Rouatbi, J. Vázquez-Jiménez, M. Seghaye
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引用次数: 0
Correction to: Precision medicine in pediatric oncology 更正:儿科肿瘤学中的精准医学
Pub Date : 2022-03-10 DOI: 10.1186/s40348-022-00140-4
S. Burdach, M. Westhoff, M. Steinhauser, K. Debatin
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引用次数: 0
DMBT1 is upregulated in cystic fibrosis, affects ciliary motility, and is reduced by acetylcysteine DMBT1在囊性纤维化中上调,影响纤毛运动,并被乙酰半胱氨酸降低
Pub Date : 2022-03-05 DOI: 10.1186/s40348-022-00136-0
Alexander Kiefer, Erika Plattner, R. Ruppel, C. Weiss, Z. Zhou-Suckow, M. Mall, M. Renner, H. Müller
{"title":"DMBT1 is upregulated in cystic fibrosis, affects ciliary motility, and is reduced by acetylcysteine","authors":"Alexander Kiefer, Erika Plattner, R. Ruppel, C. Weiss, Z. Zhou-Suckow, M. Mall, M. Renner, H. Müller","doi":"10.1186/s40348-022-00136-0","DOIUrl":"https://doi.org/10.1186/s40348-022-00136-0","url":null,"abstract":"","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49654119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
PTEN hamartoma tumor syndrome in childhood and adolescence-a comprehensive review and presentation of the German pediatric guideline. 儿童和青少年PTEN错构瘤肿瘤综合征-德国儿科指南的综合回顾和介绍。
Pub Date : 2022-02-21 DOI: 10.1186/s40348-022-00135-1
Michaela Plamper, Bettina Gohlke, Joachim Woelfle

Background: The PTEN hamartoma tumor syndrome (PHTS) encompasses several different syndromes, which are linked to an autosomal-dominant mutation of the tumor suppressor PTEN gene on chromosome 10. Loss of PTEN activity leads to an increased phosphorylation of different cell proteins, which may have an influence on growth, migration, and apoptosis. Excessive activity of the PI3K/AKT/mTOR pathway due to PTEN deficiency may lead to the development of benign and malignant tumors and overgrowth. Diagnosis of PHTS in childhood can be even more challenging than in adulthood because of a lack of well-defined diagnostic criteria. So far, there are no official recommendations for cancer surveillance in affected children and adolescents.

Main body: All individuals with PHTS are at high risk for tumor development and thus might benefit from cancer surveillance strategies. In childhood, macrocephaly may be the only evident symptom, but developmental delay, behavioral problems, dermatological features (e.g., penile freckling), vascular anomalies, lipoma, or enlarged perivascular spaces in cerebral magnetic resonance imaging (cMRI) may help to establish the diagnosis. Regular psychomotor assessment and assistance in subjects with neurological impairment play an important role in the management of affected children. Already in early childhood, affected patients bear a high risk to develop thyroid pathologies. For that reason, monitoring of thyroid morphology and function should be established right after diagnosis. We present a detailed description of affected organ systems, tools for initiation of molecular diagnostic and screening recommendations for patients < 18 years of age.

Conclusion: Affected families frequently experience a long way until the correct diagnosis for their child's peculiarity is made. Even after diagnosis, it is not easy to find a physician who is familiar with this rare group of diseases. Because of a still-limited database, it is not easy to establish evidence-based (cancer) surveillance recommendations. The presented screening recommendation should thus be revised regularly according to the current state of knowledge.

背景:PTEN错构瘤肿瘤综合征(PHTS)包括几种不同的综合征,这些综合征与10号染色体上肿瘤抑制基因PTEN的常染色体显性突变有关。PTEN活性的丧失导致不同细胞蛋白磷酸化的增加,这可能对生长、迁移和凋亡有影响。PTEN缺乏导致PI3K/AKT/mTOR通路过度活跃,可能导致良恶性肿瘤的发展和过度生长。由于缺乏明确的诊断标准,儿童期PHTS的诊断可能比成年期更具挑战性。到目前为止,还没有官方建议对受影响的儿童和青少年进行癌症监测。正文:所有PHTS患者都处于肿瘤发展的高风险,因此可能受益于癌症监测策略。在儿童时期,大头畸形可能是唯一明显的症状,但发育迟缓、行为问题、皮肤特征(如阴茎雀斑)、血管异常、脂肪瘤或脑磁共振成像(cMRI)的血管周围间隙扩大可能有助于确定诊断。对神经功能障碍患者进行定期的精神运动评估和协助,在患儿的治疗中发挥着重要作用。早在儿童早期,受影响的患者就有很高的风险发展为甲状腺疾病。因此,诊断后应立即监测甲状腺形态和功能。我们提出了受影响的器官系统的详细描述,工具开始分子诊断和筛选建议患者< 18岁。结论:患儿家庭往往要经历很长一段时间才能对患儿的特点做出正确的诊断。即使在确诊后,也很难找到熟悉这种罕见疾病的医生。由于数据库仍然有限,建立基于证据的(癌症)监测建议并不容易。因此,应根据目前的知识状况定期修订所提出的筛查建议。
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引用次数: 5
Evaluation of phenotypic and genotypic patterns of aminoglycoside resistance in the Gram-negative bacteria isolates collected from pediatric and general hospitals. 从儿科和综合医院收集的革兰氏阴性菌氨基糖苷耐药表型和基因型模式的评估。
Pub Date : 2022-02-04 DOI: 10.1186/s40348-022-00134-2
Leila Azimi, Shahnaz Armin, Hossein Samadi Kafil, Nafiseh Abdollahi, Kiarash Ghazvini, Sepide Hasanzadeh, Shahram Shahraki Zahedani, Sedigheh Rafiei Tabatabaei, Fatemeh Fallah

The purpose of the current study was to evaluate the phenotypic and genotypic patterns of aminoglycoside resistance among the Gram-negative bacteria (GNB) isolates collected from pediatric and general hospitals in Iran. A total of 836 clinical isolates of GNB were collected from pediatric and general hospitals from January 2018 to the end of December 2019. The identification of bacterial isolates was performed by conventional biochemical tests. Susceptibility to aminoglycosides was evaluated by the disk diffusion method (DDM). The frequency of genes encoding aminoglycoside-modifying enzymes (AMEs) was screened by the PCR method via specific primers. Among all pediatric and general hospitals, the predominant GNB isolates were Acinetobacter spp. (n = 327) and Escherichia coli (n = 144). However, E. coli (n = 20/144; 13.9%) had the highest frequency in clinical samples collected from pediatrics. The DDM results showed that 64.3% of all GNB were resistant to all of the tested aminoglycoside agents. Acinetobacter spp. and Klebsiella pneumoniae with 93.6%, Pseudomonas aeruginosa with 93.4%, and Enterobacter spp. with 86.5% exhibited very high levels of resistance to gentamicin. Amikacin was the most effective antibiotic against E. coli isolates. In total, the results showed that the aac (6')-Ib gene with 59% had the highest frequency among genes encoding AMEs in GNB. The frequency of the surveyed aminoglycoside-modifying enzyme genes among all GNB was found as follows: aph (3')-VIe (48.7%), aadA15 (38.6%), aph (3')-Ia (31.3%), aph (3')-II (14.4%), and aph (6) (2.6%). The obtained data demonstrated that the phenotypic and genotypic aminoglycoside resistance among GNB was quite high and it is possible that the resistance genes may frequently spread among clinical isolates of GNB.

本研究的目的是评估从伊朗儿科和综合医院收集的革兰氏阴性菌(GNB)株氨基糖苷耐药的表型和基因型模式。2018年1月至2019年12月底,在儿科和综合医院共收集到GNB临床分离株836株。采用常规生化试验对分离菌进行鉴定。采用圆盘扩散法(DDM)评价其对氨基糖苷类药物的敏感性。通过特异性引物,采用PCR方法筛选氨基糖苷修饰酶(AMEs)编码基因的频率。在所有儿科和综合医院中,GNB的主要分离株为不动杆菌(n = 327)和大肠杆菌(n = 144)。然而,大肠杆菌(n = 20/144;13.9%)在儿科收集的临床样本中频率最高。DDM结果显示,64.3%的GNB对所有氨基糖苷类药物均耐药。不动杆菌和肺炎克雷伯菌(93.6%)、铜绿假单胞菌(93.4%)和肠杆菌(86.5%)对庆大霉素表现出非常高的耐药水平。阿米卡星是对大肠杆菌分离株最有效的抗生素。结果表明,在GNB中编码AMEs的基因中,aac(6’)-Ib基因的频率最高,占59%。氨基糖苷修饰酶基因在所有GNB中的频率分别为:aph(3′)-VIe(48.7%)、aadA15(38.6%)、aph(3′)-Ia(31.3%)、aph(3′)-II(14.4%)和aph(6)(2.6%)。结果表明,GNB的表型和基因型氨基糖苷耐药较高,耐药基因可能在GNB临床分离株中频繁传播。
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引用次数: 2
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Molecular and cellular pediatrics
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