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Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome. 定制气管造瘘管在Myhre综合征婴儿中绕过多节段气道狭窄。
IF 0.9 4区 医学 Q3 Medicine Pub Date : 2021-06-01 DOI: 10.1089/ped.2021.0029
Min Jin Jeon, Min Jung Kim, Ji Hye Kim, Ji Soo Park, Jisook Yim, Myungshin Kim, Seong Keun Kwon, Soyoung Lee, Jung Min Ko, Jong-Hee Chae, Dong In Suh

Background: Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the SMAD4 gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients with Myhre syndrome. Case Presentation: We report the case of a 2-month-old boy who initially presented with severe multilevel airway stenosis, dysmorphic face, and multiple abnormalities. Lung fibrosis and mild aortic valve stenosis were additionally observed on follow-up examinations. A heterozygous missense variant, c.1499T>C (p.Ile500Thr), in SMAD4 was identified through exome sequencing. Tracheostomy was performed, and the patient has maintained stable respiration through a customized tracheostomy tube with a home ventilator. Conclusions: Patients who have dysmorphic face, airway stenosis, and cardiovascular anomalies that do not fit the diagnosis of common syndromes should be evaluated for rare diseases, including Myhre syndrome. Since respiratory complications can be life threatening, early diagnosis and suitable intervention are necessary.

背景:Myhre综合征是一种罕见的结缔组织疾病,由SMAD4基因的杂合致病性变异引起。虽然在儿童早期识别Myhre综合征是具有挑战性的,但对Myhre综合征患者气道狭窄的管理是重要的。病例介绍:我们报告了一个2个月大的男孩,他最初表现为严重的多水平气道狭窄,面部畸形和多种异常。在随访检查中还观察到肺纤维化和轻度主动脉瓣狭窄。通过外显子组测序,鉴定出SMAD4的杂合错义变异C . 1499t >C (p.i ile500thr)。行气管造口术,患者通过定制的气管造口管和家用呼吸机保持呼吸稳定。结论:面部畸形、气道狭窄、心血管异常不符合常见综合征诊断的患者应纳入罕见病评估,包括Myhre综合征。由于呼吸系统并发症可能危及生命,因此早期诊断和适当干预是必要的。
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引用次数: 1
Paracetamol Allergy: A Case of a 9-Year-Old Female with a History of Atopy. 扑热息痛过敏:1例9岁女性特应性过敏史。
IF 0.9 4区 医学 Q3 Medicine Pub Date : 2021-06-01 DOI: 10.1089/ped.2021.0027
Ariana Teles, Francisco Ribeiro-Mourão, Mariana Branco, Ana Rita Araújo, Teresa Vieira

Background: We describe a rare case involving paracetamol, a commonly used drug worldwide. Increased paracetamol consumption increases the risk of adverse drug reactions. Case Presentation: This is a case of a 9-year-old girl who visited the emergency department due to sudden onset sneezing, nasal itching, urticaria, and angioedema after paracetamol ingestion. The diagnostic and etiologic studies revealed an immunoglobulin E (IgE)-mediated hypersensitivity mechanism to paracetamol. Conclusion: Few cases of this phenomenon have been reported in previous literature. As confirmed in this study, a negative skin prick test did not exclude hypersensitivity, and conducting intradermal tests (IDTs) increased diagnostic accuracy. The patient had a positive IDT, confirming the underlying IgE-mediated reaction. The follow-up of a confirmed paracetamol hypersensitivity implies patient education about avoidance of any paracetamol-containing formulation, including combination products and clarification of available alternative drugs. This is likely the first publication documenting IgE-mediated paracetamol allergy in pediatric patients. We intend to underline the clinical benefits of diagnostic confirmation toward suspected drug hypersensitivity reactions in children, a particularly useful topic for pediatricians and pediatric allergists.

背景:我们描述了一个罕见的病例涉及扑热息痛,一种常用的药物在世界范围内。扑热息痛用量增加会增加药物不良反应的风险。病例介绍:这是一个9岁的女孩,因摄入扑热息痛后突然打喷嚏、鼻痒、荨麻疹和血管性水肿而去急诊室就诊的病例。诊断和病因学研究显示免疫球蛋白E (IgE)介导的对扑热息痛过敏机制。结论:以往文献很少报道此现象。正如本研究证实的那样,皮肤点刺试验阴性不能排除过敏,进行皮内试验(IDTs)可提高诊断准确性。患者IDT阳性,证实了潜在的ige介导反应。对确认的扑热息痛过敏的随访意味着教育患者避免使用任何含有扑热息痛的制剂,包括联合产品和澄清可用的替代药物。这可能是第一个记录儿童患者ige介导的扑热息痛过敏的出版物。我们打算强调对儿童疑似药物超敏反应的诊断确认的临床益处,这对儿科医生和儿科过敏症专家来说是一个特别有用的话题。
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引用次数: 2
Pulmonary Function Testing in the Coronavirus Disease Era: Lessons and Opportunities. 冠状病毒时代的肺功能检测:教训与机遇
IF 0.9 4区 医学 Q3 Medicine Pub Date : 2021-06-01 DOI: 10.1089/ped.2021.0059
Scott Bickel, Ronald Morton, Nemr Eid
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引用次数: 1
Early Peanut Introduction and Testing: A Framework for General Pediatrician Beliefs and Practices. 早期花生引进和测试:一般儿科医生的信念和实践框架。
IF 0.9 4区 医学 Q3 Medicine Pub Date : 2021-06-01 Epub Date: 2020-09-23 DOI: 10.1089/ped.2020.1190
Angela Chang, Michael D Cabana, Taylor N LaFlam, Saharsh Patel, Megumi Okumura

Background: Peanut introduction guidelines have undergone significant reversal since 2001 from recommending delayed introduction to rescinding the recommendations in 2008 to actively recommending early introduction of peanut between 4 and 11 months of age in high-risk infants in 2015. This qualitative study aims to explore pediatrician beliefs, practices, facilitators, and barriers regarding peanut introduction and testing. Methods: General pediatricians from academic, private, large group, and underserved practices in Northern California underwent individual semi-structured interviews in 2017. We asked about experiences surrounding infant peanut introduction, strategies for staying up-to-date with current recommendations, and barriers and facilitators to the new peanut introduction and testing recommendations. The data were coded, and using grounded theory methodology, a conceptual framework was developed around early peanut introduction and testing in infants. Results: Eighteen general pediatricians participated. We identified barriers that may contribute to pediatrician reluctance to recommending early peanut introduction or testing including lack of awareness, lack of agreement, lack of resources, and lack of outcome expectancy. A framework was created that suggests that pediatricians need to be knowledgeable about new recommendations, agree with the recommendations, have resources to carry out the counseling and testing, and have buy-in from the parents in order for successful uptake of peanut introduction guidelines. Conclusion: Recommending early peanut introduction or testing causes significant apprehension in some pediatricians, and there are many barriers to following recent early peanut introduction recommendations. A potential limitation of the study is that it was conducted right after the addendum guidelines were changed, leaving the possibility that attitudes and practices may have evolved since 2017. It is still likely that a multifaceted approach that addresses primary care provider guideline awareness, limited primary care resources for education and testing, and includes support and collaboration from subspecialty practices is more likely to lead to improved early peanut introduction uptake.

背景:自2001年以来,花生引进指南发生了重大逆转,从2008年建议推迟引进到取消建议,再到2015年积极建议高危婴儿在4至11个月大之间尽早引进花生。这项定性研究旨在探索儿科医生对花生引进和测试的信念、实践、促进因素和障碍。方法:2017年,来自北加利福尼亚州学术、私人、大型团体和服务不足诊所的普通儿科医生接受了个人半结构化访谈。我们询问了有关婴儿花生引进的经验,了解最新建议的策略,以及新花生引进和测试建议的障碍和促进因素。对数据进行编码,并使用基础理论方法,围绕早期花生引进和婴儿测试制定了一个概念框架。结果:18名普通儿科医生参与。我们发现了可能导致儿科医生不愿建议尽早引进花生或进行测试的障碍,包括缺乏意识、缺乏一致性、缺乏资源和缺乏预期结果。创建了一个框架,表明儿科医生需要了解新的建议,同意这些建议,有资源进行咨询和测试,并得到家长的支持,才能成功地接受花生引种指南。结论:建议尽早引进花生或进行测试引起了一些儿科医生的极大担忧,并且在遵循最近的早期引进花生建议方面存在许多障碍。该研究的一个潜在局限性是,它是在附录指南更改后立即进行的,这使得人们的态度和做法可能自2017年以来发生了变化。解决初级保健提供者指南意识、有限的教育和测试初级保健资源以及亚专业实践的支持和合作等问题的多方面方法更有可能提高早期花生引种率。
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引用次数: 0
Relationships Between Bronchoscopy, Microbiology, and Radiology in Noncystic Fibrosis Bronchiectasis. 非囊性纤维化支气管扩张的支气管镜、微生物学和影像学的关系。
IF 0.9 4区 医学 Q3 Medicine Pub Date : 2021-06-01 Epub Date: 2021-05-14 DOI: 10.1089/ped.2020.1319
Mustafa Atilla Nursoy, Ayse Ayzit Kilinc, Fatouma Khalif Abdillahi, Feyza Ustabas Kahraman, Lina Muhammed Al Shadfan, Bilge Sumbul, Sabriye Sennur Bilgin, Fatma Betul Cakir, Hayrettin Daskaya, Erkan Cakir

Background: Published data on the correlations of bronchoscopy findings with microbiological, radiological, and pulmonary function test results in children with noncystic fibrosis (CF) bronchiectasis (BE) are unavailable. The aims of this study were to evaluate relationships between Bronchoscopic appearance and secretion scoring, microbiological growth, radiological severity level, and pulmonary function tests in patients with non-CF BE. Methods: Children with non-CF BE were identified and collected over a 6-year period. Their medical charts and radiologic and bronchoscopic notes were retrospectively reviewed. Results: The study population consisted of 54 female and 49 male patients with a mean age of 11.7 ± 3.4 years. In the classification according to the bronchoscopic secretion score, Grade I was found in 2, Grade II in 4, Grade III in 9, Grade IV in 17, Grade V in 25, and Grade VI in 46 patients. When evaluated according to the Bhalla scoring system, 45 patients had mild BE, 37 had moderate BE, and 21 had severe BE. Microbial growth was detected in bronchoalveolar lavage fluid from 50 of the patients. Forced expiratory volume in 1 s (FEV1) and functional vital capacity decreased with increasing bronchoscopic secretion grade (P = 0.048 and P = 0.04), respectively. The degree of radiological severity increased in parallel with the bronchoscopic secretion score (P = 0.007). However, no relationship was detected between microbiological growth rate and radiological findings (P = 0.403). Conclusions: This study showed that bronchoscopic evaluation and especially scoring of secretions correlate with severe clinical condition, decrease in pulmonary function test, worsening in radiology scores, and increase in microbiological bacterial load in patients. Flexible endoscopic bronchoscopy should be kept in mind in the initial evaluation of non-CF BE patients.

背景:关于非囊性纤维化(CF)支气管扩张(BE)患儿的支气管镜检查结果与微生物学、放射学和肺功能检查结果的相关性的已发表数据尚未获得。本研究的目的是评估非cf性BE患者的支气管镜外观和分泌物评分、微生物生长、放射学严重程度和肺功能测试之间的关系。方法:在6年的时间里,对非cf性BE患儿进行鉴定和收集。我们回顾了他们的病历、放射学和支气管镜检查记录。结果:研究人群为女性54例,男性49例,平均年龄11.7±3.4岁。根据支气管镜分泌物评分分级,1级2例,2级4例,3级9例,4级17例,5级25例,6级46例。根据Bhalla评分系统评估,45例患者为轻度BE, 37例为中度BE, 21例为重度BE。在50例患者的支气管肺泡灌洗液中检测到微生物生长。1 s用力呼气量(FEV1)和功能肺活量分别随支气管镜下分泌物分级的增加而降低(P = 0.048和P = 0.04)。放射学严重程度与支气管镜分泌物评分平行升高(P = 0.007)。然而,没有发现微生物生长速率与放射学表现之间的关系(P = 0.403)。结论:本研究表明,支气管镜评估特别是分泌物评分与患者临床病情严重、肺功能检查下降、影像学评分恶化、微生物细菌负荷增加相关。在对非cf性be患者进行初步评估时,应牢记柔性内窥镜支气管镜。
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引用次数: 1
A Single Inhaler Combining a Corticosteroid and Long-Acting Beta-2 Agonist for Maintenance with Additional Doses for Reliever Therapy (SMART): Obstacles for Asthma Patients in the USA. 单吸入器联合皮质类固醇和长效β -2激动剂维持和额外剂量的缓解治疗(SMART):美国哮喘患者的障碍
IF 0.9 4区 医学 Q3 Medicine Pub Date : 2021-06-01 DOI: 10.1089/ped.2021.0052
Leslie Hendeles, Kathryn V Blake, Ashley Galbreath
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引用次数: 4
Relationship Between Lactate Levels and Length of Hospital Stay in Infants with Lower Respiratory Tract Infection. 下呼吸道感染患儿乳酸水平与住院时间的关系
IF 0.9 4区 医学 Q3 Medicine Pub Date : 2021-06-01 DOI: 10.1089/ped.2021.0008
Emek Uyur Yalçin, Furkan Erdogan, Esra Topal, Selda Seçim, Rabia Gönül Sezer Yamanel

Background: Increased lactate concentrations are directly related to the severity of shock and mortality rates. There are limited data regarding the prognostic value of lactate among lower respiratory tract infections. We aimed to investigate the impact of lactate levels on admission on the clinical outcomes of children with lower respiratory tract infections. Methods: We performed a retrospective study of hospitalized patients aged 1-12 months. We recorded data on patient demographics, clinical, laboratory, treatment, and outcomes. The primary outcome measure was the length of hospital stay, and the secondary outcome was transfer to the pediatric intensive care unit (PICU) and/or mortality rates. Results: A total of 304 infants were included in the study. There were 198 infants with lactate levels of >2 mmol/L. Lactic acidosis was present in 6 infants, with a mean hospital stay of 8 ± 3 days. Only 1 (0.3%) patient required intubation, and 5 (1.6%) were transferred to the PICU. The overall mortality rate was 0%. Lactate levels (≤2 and >2 mmol/L) were not related to the length of hospital stay, transfer to PICU/discharge, and the need for intubation (P = 0.16, 0.8, and 0.46, respectively). The length of hospital stay was not correlated with lactate levels on admission (r = 0.01, P = 0.84), pCO2 (r = 0.03, P = 0.52), pH (r = 0.07, P = 0.19), C-reactive protein (r = 0.06, P = 0.28), and oxygen saturation (r = -0.02, P = 0.72). Conclusions: Lactate levels on admission did not predict the length of hospital stay in children with lower respiratory infections and were not related to the need for transfer to the intensive care unit. We suggest using lactate levels in combination with clinical, laboratory, and physical examination findings as predictors of disease severity.

背景:乳酸浓度升高与休克的严重程度和死亡率直接相关。关于乳酸盐对下呼吸道感染的预后价值的数据有限。我们的目的是研究乳酸水平对入院儿童下呼吸道感染临床结果的影响。方法:我们对1-12个月的住院患者进行回顾性研究。我们记录了患者人口统计学、临床、实验室、治疗和结果的数据。主要结局指标是住院时间,次要结局指标是转到儿科重症监护病房(PICU)和/或死亡率。结果:共有304名婴儿被纳入研究。198例婴儿乳酸水平>2 mmol/L。6例患儿出现乳酸性酸中毒,平均住院时间8±3天。只有1例(0.3%)患者需要插管,5例(1.6%)患者转入PICU。总死亡率为0%。乳酸水平(≤2和>2 mmol/L)与住院时间、转PICU/出院和插管需求无关(P值分别为0.16、0.8和0.46)。住院时间与入院时乳酸水平(r = 0.01, P = 0.84)、pCO2 (r = 0.03, P = 0.52)、pH (r = 0.07, P = 0.19)、c反应蛋白(r = 0.06, P = 0.28)、血氧饱和度(r = -0.02, P = 0.72)无关。结论:入院时的乳酸水平不能预测下呼吸道感染儿童的住院时间,也与转到重症监护病房的需要无关。我们建议将乳酸水平与临床、实验室和体检结果相结合,作为疾病严重程度的预测指标。
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引用次数: 0
Prevalence and Determinants of Tobacco Smoking Among Low-Income Urban Adolescents. 低收入城市青少年吸烟的流行和决定因素。
IF 0.9 4区 医学 Q3 Medicine Pub Date : 2021-06-01 Epub Date: 2021-06-09 DOI: 10.1089/ped.2021.0018
Javier Mallol, Marilyn Urrutia-Pereira, Manuel J Mallol-Simmonds, Lucas Calderón-Rodríguez, Francisco Osses-Vergara, Augusto Matamala-Bezmalinovic

Background: Tobacco-smoking in children is one of the most crucial public health concerns, which could be highly prevalent in underprivileged populations. Methods: A cross sectional, random sampling survey was conducted to determine the prevalence of current tobacco-smoking and related risk factors among adolescents living in a low-income area of Santiago de Chile. Results: Of the 2,747 adolescents participating in the study, 24.0% [95% confidence interval (CI) 22.3-25.5] were current smokers, with no significant difference between girls and boys. Factors associated with current smoking were as follows: positive attitude to smoking cigarettes offered by peers [odds ratio (OR) 8.0; 95% CI 5.7-11.3, P < 0.001], having smoking best friends (OR 4.0; 95% CI 2.6-6.0, P < 0.001), and passive smoking in the house (OR 1.9; 95% CI 1.2-3.1, P = 0.008). A total of 16.8% (95% CI 11.4-18.2) of children had smoked an entire cigarette at the age of ≤12, and 62.3% (95% CI, 60.5-64.1) were passive smokers at home. Regarding nonsmoking children, 52.4% (95% CI 49.74-55.06) were exposed to tobacco smoke at home. Conclusion: The prevalence of current tobacco-smoking in adolescents is high and increasing compared to previous studies undertaken in the selected low-resourced area. Two-thirds of children who started smoking before the age of 12 years were current smokers at the time of the survey, highlighting the prevalence of the powerful addiction generated and the need for better preventive strategies against tobacco-smoking for children living in low-resource communities.

背景:儿童吸烟是最重要的公共卫生问题之一,在贫困人口中可能非常普遍。方法:采用横断面随机抽样调查,确定智利圣地亚哥低收入地区青少年的吸烟率及相关危险因素。结果:在参与研究的2,747名青少年中,24.0%[95%可信区间(CI) 22.3-25.5]为当前吸烟者,女孩和男孩之间无显著差异。与当前吸烟相关的因素如下:同龄人对吸烟的积极态度[优势比(OR) 8.0;95% ci 5.7-11.3, p p p = 0.008)。共有16.8% (95% CI 11.4-18.2)的儿童在≤12岁时吸过一整支烟,62.3% (95% CI 60.5-64.1)的儿童在家中被动吸烟。对于不吸烟的儿童,52.4% (95% CI 49.74-55.06)在家中暴露于烟草烟雾。结论:与以往在选定的资源匮乏地区进行的研究相比,目前青少年的吸烟率很高,而且还在增加。在进行调查时,在12岁以前开始吸烟的儿童中有三分之二是目前的吸烟者,这突出显示了所产生的强大成瘾的普遍性,以及为生活在资源匮乏社区的儿童制定更好的预防吸烟战略的必要性。
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引用次数: 6
A Survey on the Management of Children with Asthma in Primary Care Setting in Italy. 意大利初级保健机构儿童哮喘管理的调查。
IF 0.9 4区 医学 Q3 Medicine Pub Date : 2021-06-01 DOI: 10.1089/ped.2021.0031
Maria A Tosca, Irene Schiavetti, Marzia Duse, G L Marseglia, Giorgio Ciprandi
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引用次数: 6
Pulmonary Infections and Surgical Complications in a Young Girl with Signal Transducer and Activator of Transcription 3 Loss-of-Function Mutation Hyperimmunoglobulin E Syndrome: A Case Report. 一名患有信号转导和激活转录 3 功能缺失突变高免疫球蛋白 E 综合征的年轻女孩的肺部感染和手术并发症:病例报告。
IF 1.1 4区 医学 Q4 ALLERGY Pub Date : 2021-03-01 DOI: 10.1089/ped.2020.1225
Crhistian Toribio-Dionicio, Dania Cubas-Guzmán, Pedro Guerra-Canchari, Vanuza García-Sánchez, Wilmer Córdova-Calderón

Introduction: Hyperimmunoglobulin E syndromes (HIESs) are characterized by a high serum immunoglobulin E (IgE) level, eczematoid rashes, recurrent staphylococcal skin abscesses, and recurrent pneumonia and pneumatocele formation. Autosomal dominant HIES is the most common form of HIES and mainly occurs due to loss-of-function mutations in the Signal Transducer and Activator of Transcription 3 (STAT3) gene (STAT3 LOF). Case Presentation: We report the case of an 11-year-old Peruvian girl diagnosed with STAT3 LOF caused by p.R382W mutation. She presented with recurrent staphylococcal pneumonia and empyema caused by the rarely reported Achromobacter xylosoxidans, which led to severe destruction of the lung parenchyma, multiple lung surgeries, and the development of bronchopleural fistulas. A laparotomy was also performed, which showed evidence of sigmoid colon perforation. The patient received immunoglobulin replacement therapy (IRT) and antibiotic prophylaxis, and the frequency of her infections has decreased over the past 3 years. Conclusion: This is the first case of STAT3 LOF diagnosed by genomic sequencing in Peru. Patients with this mutation have recurrent pulmonary infections, and require multiple surgical procedures with frequent complications. A. xylosoxidans infection could be related to the prolonged stay in intensive care leading to high mortality; therefore, additional care must be taken when treating patients with this infection. In addition, colonic perforation is a rare complication in STAT3 LOF patients. IRT and antibiotic prophylaxis appear to decrease the frequency of infections and hospitalizations.

简介高免疫球蛋白E综合征(HIES)的特征是血清免疫球蛋白E(IgE)水平高、湿疹、反复发作的葡萄球菌皮肤脓肿以及反复发作的肺炎和肺囊肿形成。常染色体显性 HIES 是最常见的 HIES,主要是由于信号转导和转录激活因子 3(STAT3)基因(STAT3 LOF)发生功能缺失突变所致。病例介绍:我们报告了一例秘鲁 11 岁女孩的病例,她被诊断为 p.R382W 突变导致的 STAT3 LOF。她的病因是由罕见报道的木糖酸 Achromobacter xylosoxidans 引起的复发性葡萄球菌肺炎和肺水肿,导致肺实质严重破坏、多次肺部手术和支气管胸膜瘘的形成。此外还进行了开腹手术,结果显示有乙状结肠穿孔的迹象。患者接受了免疫球蛋白替代疗法(IRT)和抗生素预防治疗,感染频率在过去三年中有所下降。结论这是秘鲁首例通过基因组测序确诊的 STAT3 LOF 病例。有这种突变的患者会反复发生肺部感染,需要多次手术治疗,并经常出现并发症。木糖酵母菌感染可能与重症监护时间过长导致死亡率高有关;因此,在治疗这种感染的患者时必须格外小心。此外,结肠穿孔在 STAT3 LOF 患者中也是一种罕见的并发症。IRT和抗生素预防似乎可以降低感染和住院的频率。
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引用次数: 0
期刊
Pediatric Allergy Immunology and Pulmonology
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