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Secondary hypogammaglobulinemia: diagnosis and management of a pediatric condition of clinical importance. 继发性低丙种球蛋白血症:一种具有重要临床意义的儿科疾病的诊断和治疗。
IF 3.6 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-03 DOI: 10.1097/mop.0000000000001396
Daniel DiGiacomo,Sara Barmettler
PURPOSE OF REVIEWSecondary hypogammaglobulinemia, or low serum immunoglobulins, is associated with a variety of medications or medical conditions and may be symptomatic and lead to increased infectious risk. There is limited data regarding the study of acquired, or secondary, hypogammaglobulinemia (SHG) in pediatrics. The data to date has suffered from methodologic issues including retrospective study design, lack of baseline immunoglobulin measurements, and limited longitudinal follow-up.RECENT FINDINGSThere is emerging research on the impact of B-cell depleting therapies, specifically rituximab and chimeric antigen T-cells, along with other autoimmune and malignant disease states, in the development of SHG in pediatric patients. This review will also summarize other relevant pediatric conditions related to SHG.SUMMARYThe clinical relevance of SHG in pediatrics is increasingly appreciated. Improved understanding of the specific etiologies, risk factors, and natural history of SHG have informed screening and management recommendations.
综述目的继发性低丙种球蛋白血症或低血清免疫球蛋白症与多种药物或医疗条件有关,可能会出现症状并导致感染风险增加。有关儿科获得性或继发性低丙种球蛋白血症(SHG)的研究数据十分有限。最新发现:关于 B 细胞耗竭疗法(特别是利妥昔单抗和嵌合抗原 T 细胞)以及其他自身免疫性疾病和恶性疾病对儿科患者 SHG 发病的影响的研究正在兴起。本综述还将总结与 SHG 相关的其他儿科疾病。摘要 SHG 在儿科的临床意义日益受到重视。对SHG的具体病因、风险因素和自然病史的进一步了解为筛查和管理建议提供了依据。
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引用次数: 0
Non-IgE-mediated drug-induced hypersensitivity reactions in pediatrics. 儿科非 IgE 介导的药物超敏反应。
IF 3.6 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-20 DOI: 10.1097/mop.0000000000001395
Timothy G Chow,Anum F Muzaffar,Santiago Alvarez-Arango
PURPOSE OF REVIEWDespite their prevalence and potential severity, non-IgE-mediated drug-induced hypersensitivity reactions (DHRs) are under-researched and poorly defined, particularly in children. Presentations range from mild cutaneous reactions to severe systemic diseases, with pathophysiological mechanisms and reliable diagnostic markers not well established. The lack of validated tests often leads to permanent drug restrictions, reliance on second-line drugs, and increased costs. Focusing on recent advancements and areas needing further research, this review aims to enhance children's recognition, diagnosis, and management of non-IgE-mediated DHRs.RECENT FINDINGSRecent studies have enhanced the understanding of immediate and delayed non-IgE-mediated drug reactions. Key findings include the Mas-related G protein-coupled receptor X2 in mast cells and the identification of HLA alleles linked to severe cutaneous adverse reactions, such as Stevens-Johnson syndrome and toxic epidermal necrolysis. Improved diagnostic techniques, including skin testing, show promise in identifying immediate and delayed non-IgE DHRs. Additionally, research highlights the impact of cofactors, drug metabolites, and co-infections on these DHRs and explores potential biomarkers for predicting reaction severity.SUMMARYNon-IgE-mediated DHRs are a significant cause of morbidity and treatment changes in pediatric patients. Recent research underscores their clinical presentations and mechanisms, paving the way for more precise diagnostic and therapeutic strategies to improve patient outcomes.
综述目的尽管非 IgE 介导的药物超敏反应(DHRs)普遍存在且可能很严重,但对其研究不足且定义不清,尤其是在儿童中。表现形式从轻微的皮肤反应到严重的全身性疾病不等,病理生理机制和可靠的诊断指标尚未完全确定。缺乏有效的检测往往导致永久性用药限制、对二线药物的依赖以及成本增加。本综述侧重于最新进展和需要进一步研究的领域,旨在加强儿童对非 IgE 介导的 DHRs 的识别、诊断和管理。主要发现包括肥大细胞中与 Mas 相关的 G 蛋白偶联受体 X2,以及与严重皮肤不良反应(如 Stevens-Johnson 综合征和中毒性表皮坏死)相关的 HLA 等位基因的鉴定。经改进的诊断技术(包括皮肤测试)有望识别即时和延迟的非 IgE DHR。此外,研究还强调了辅因子、药物代谢物和合并感染对这些 DHR 的影响,并探讨了预测反应严重程度的潜在生物标记物。最新研究强调了其临床表现和机制,为制定更精确的诊断和治疗策略以改善患者预后铺平了道路。
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引用次数: 0
Echocardiographic strain imaging in the pediatric heart: clinical value and utility in decision making. 小儿心脏超声心动图应变成像:临床价值和决策实用性。
IF 3.6 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-16 DOI: 10.1097/mop.0000000000001394
John P Martinez,Gulnigor Ganieva,Jamie K Harrington
PURPOSE OF REVIEWSpeckle tracking echocardiography (STE)-derived measures of myocardial mechanics, referred to herewithin as strain measurements, directly assess myocardial contractility and provide a nuanced assessment of ventricular function. This review provides an overview of strain measurements and their current clinical value and utility in decision making in pediatric cardiology.RECENT FINDINGSStrain measurements are advancing understanding of how cardiac dysfunction occurs in children with acquired and congenital heart disease (CHD). Global strain measurements can detect early changes in cardiac function and are reliable methods of serially monitoring systolic function in children. Global strain measurements are increasingly reported in echocardiographic assessment of ventricular function alongside ejection fraction. Research is increasingly focused on how strain measurements can help improve clinical management, risk stratification, and prognostic insight. Although more research is needed, preliminary studies provide hope that there will be clinical benefit for strain in pediatric cardiology management.SUMMARYStrain measurements provide a more detailed assessment of ventricular function than conventional measures of echocardiographic functional assessment. Strain measurements are increasingly being used to advance understanding of normal and abnormal myocardial contractility, to increase sensitivity to detect early cardiac dysfunction, and to improve prognostic management in children with acquired and CHD.
本综述概述了啄状追踪超声心动图(STE)得出的心肌力学测量结果,在此称为应变测量,可直接评估心肌收缩力,并对心室功能进行细致入微的评估。本综述概述了应变测量及其目前在儿科心脏病学决策中的临床价值和实用性。最近的发现应变测量有助于进一步了解后天性和先天性心脏病(CHD)患儿的心功能障碍是如何发生的。整体应变测量可检测心脏功能的早期变化,是连续监测儿童收缩功能的可靠方法。在超声心动图评估心室功能时,应变测量与射血分数一起被越来越多地报告。研究越来越关注应变测量如何帮助改善临床管理、风险分层和预后洞察。尽管还需要进行更多的研究,但初步研究表明,应变测量在儿科心脏病学管理中将带来临床益处。应变测量被越来越多地用于加深对正常和异常心肌收缩力的理解,提高检测早期心功能不全的敏感性,以及改善后天性心脏病和先天性心脏病患儿的预后管理。
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引用次数: 0
Advances in understanding and managing pediatric heart failure and transplant. 了解和管理小儿心力衰竭和移植方面的进展。
IF 3.6 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-12 DOI: 10.1097/mop.0000000000001393
Wenyuan Xu,Marc Richmond
PURPOSE OF REVIEWThis article highlights the most recent advances in a review of the current literature in the field of pediatric heart failure and transplantation.RECENT FINDINGSDiagnostically, the identification of new genetic factors has contributed to a deeper understanding of cardiomyopathy in children. Novel medications like sacubitril/valsartan and Sodium-Glucose cotransporter-2 (SGLT2) inhibitors, which are now standard in the adult population are being studied in pediatric population and offer new promise of pediatric heart failure treatment. Ventricular assist devices are more commonly used in cardiomyopathy patients and single ventricle patients as a bridge to transplant. Recent pediatric heart transplant society (PHTS) data demonstrated that waitlist survival improved significantly over the past decades (i) and new treatments such as daratumumab and eculizumab have been used in high-risk populations and demonstrate promising results. TEAMMATE trial is the first multicenter randomized clinical trial (RCT) in pediatric heart transplant (HT) to evaluate the safety and efficacy of everolimus (EVL) and low-dose tacrolimus (TAC) compared to standard-dose TAC and mycophenolate mofetil (MMF). It will provide valuable information about the safety and efficacy of EVL, TAC, and MMF (ii).Donor cell-free DNA has been used more in pediatric transplant recipients and has significantly decreased invasive EMB (iii).SUMMARYThis past 5 years have witness dramatic progress in the field of pediatric heart failure and transplantation including more use of mechanical support in heart failure patients with various underlying etiology, especially use of mechanical support in single ventricle patients and the use of sacubitril/valsartan and SGLT2 inhibitors in the pediatric population. The problem of the highly sensitized transplant recipient remains, although novel therapeutics have been added to our toolbox of options to maintain healthy allograft function. Ongoing research aims to further enhance our understanding and management of pediatric heart failure, emphasizing the need for continued innovation in this complex field.
最新发现诊断方面,新遗传因素的确定有助于加深对儿童心肌病的了解。新药物如沙库比曲利/缬沙坦和钠-葡萄糖共转运体-2(SGLT2)抑制剂现已成为成人的标准药物,目前正在儿科人群中进行研究,为儿科心力衰竭治疗带来了新希望。心室辅助装置更常用于心肌病患者和单心室患者,作为移植的桥梁。儿科心脏移植协会(PHTS)的最新数据显示,过去几十年来,候补名单上的存活率显著提高(i),达拉单抗(daratumumab)和依库珠单抗(eculizumab)等新疗法已用于高风险人群,并取得了良好的效果。TEAMMATE 试验是儿科心脏移植(HT)领域的首个多中心随机临床试验(RCT),旨在评估依维莫司(EVL)和小剂量他克莫司(TAC)与标准剂量 TAC 和霉酚酸酯(MMF)相比的安全性和有效性。它将为 EVL、TAC 和 MMF 的安全性和有效性提供有价值的信息(ii)。无捐献者细胞 DNA 已更多地用于儿科移植受者,并显著减少了侵袭性 EMB(iii)。摘要过去五年来,儿科心力衰竭和移植领域取得了巨大进步,包括对有各种潜在病因的心力衰竭患者更多地使用机械支持,尤其是对单心室患者使用机械支持,以及在儿科人群中使用沙库比曲/缬沙坦和 SGLT2 抑制剂。尽管我们的工具箱中增加了新的治疗方法来维持健康的异体移植功能,但高度敏感的移植受体问题依然存在。正在进行的研究旨在进一步加强我们对小儿心力衰竭的了解和管理,强调了在这一复杂领域持续创新的必要性。
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引用次数: 0
Continued contribution to atopic innovation with dupilumab. 杜必鲁单抗继续为特应性创新做出贡献。
IF 2.2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-09 DOI: 10.1097/MOP.0000000000001390
Alex E Wright, Will Wood, Aakash Goyal

Purpose of review: Dupilumab is an emerging medication that has shown efficacy for multiple atopic conditions. This review provides insight into the common conditions that are treated, mechanism of action, and continued innovation with the medication.

Recent findings: There continues to be applicability of dupilumab in treating a growing number of atopic conditions. Increasingly younger patient populations with eosinophil based conditions are being approved for this therapy. It is also considered as an additional option treatment for patients who cannot tolerate oral therapy or have adverse effects from other agents. Patients with more severe conditions are finally finding symptom stability while also being able to reduce reliance on corticosteroids. Patients as young as 6 months of age have benefited from treatment.

Summary: As atopic conditions become more prevalent, dupilumab has been shown to be successful in inducing remission of symptoms. Overall, it continues to be a promising treatment for reducing the burden of disease severity as well as improving the quality of life of affected children.

综述目的:杜比鲁单抗是一种新兴药物,对多种特应性疾病具有疗效。本综述介绍了该药物治疗的常见疾病、作用机制和持续创新:最近的发现:dupilumab 仍可用于治疗越来越多的特应性疾病。越来越多患有嗜酸性粒细胞疾病的年轻患者被批准使用这种疗法。对于不能耐受口服疗法或对其他药物有不良反应的患者,它也被视为一种额外的治疗选择。病情较为严重的患者终于可以在症状稳定的同时减少对皮质类固醇的依赖。小至 6 个月大的患者也能从治疗中获益。总结:随着特应性疾病越来越普遍,dupilumab 已被证明能成功缓解症状。总之,它仍然是一种很有前景的治疗方法,可减轻疾病的严重程度,改善患儿的生活质量。
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引用次数: 0
Continued contribution to atopic innovation with dupilumab. 杜必鲁单抗继续为特应性创新做出贡献。
IF 3.6 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-08 DOI: 10.1097/mop.0000000000001390
Alex E Wright,Will Wood,Aakash Goyal
PURPOSE OF REVIEWDupilumab is an emerging medication that has shown efficacy for multiple atopic conditions. This review provides insight into the common conditions that are treated, mechanism of action, and continued innovation with the medication.RECENT FINDINGSThere continues to be applicability of dupilumab in treating a growing number of atopic conditions. Increasingly younger patient populations with eosinophil based conditions are being approved for this therapy. It is also considered as an additional option treatment for patients who cannot tolerate oral therapy or have adverse effects from other agents. Patients with more severe conditions are finally finding symptom stability while also being able to reduce reliance on corticosteroids. Patients as young as 6 months of age have benefited from treatment.SUMMARYAs atopic conditions become more prevalent, dupilumab has been shown to be successful in inducing remission of symptoms. Overall, it continues to be a promising treatment for reducing the burden of disease severity as well as improving the quality of life of affected children.
综述目的dupilumab 是一种新兴药物,对多种特应性疾病具有疗效。本综述深入探讨了该药物治疗的常见疾病、作用机制和持续创新。最新发现:杜匹单抗仍然适用于治疗越来越多的特应性疾病。越来越多患有嗜酸性粒细胞疾病的年轻患者被批准使用这种疗法。对于不能耐受口服疗法或对其他药物有不良反应的患者,它也被视为一种额外的治疗选择。病情较为严重的患者终于可以在症状稳定的同时减少对皮质类固醇的依赖。摘要 随着特应性疾病的发病率越来越高,dupilumab 已被证明能成功缓解症状。总体而言,它仍然是一种很有前景的治疗方法,可减轻疾病的严重程度并改善患儿的生活质量。
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引用次数: 0
Genetic disease amongst the Plain community. 平原地区的遗传病。
IF 3.6 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-07 DOI: 10.1097/mop.0000000000001392
Katherine L Mascia
PURPOSE OF REVIEWThe purpose of this review is to highlight recent genetic studies of the Amish and Mennonite (Plain) communities. For decades, the study of genetically isolated populations has improved our understanding and management of genetic diseases that affect all populations.RECENT FINDINGSMajor themes of current genetic research of the Amish and Mennonites include new causative gene and new candidate gene discovery, phenotype expansion of previously identified genetic disease, and a target for AAV9-mediated gene therapy. Additionally, several genome-wide association studies (GWAS) examining complex traits such as dementia, cardiometabolic disease, and age-related macular degeneration have been conducted. Finally, clinically relevant studies of attitudes of the Plain community towards genetic testing and telemedicine, as well as reviews of and management suggestions for the Amish variants of propionic acidemia and APOB-associated familial hypercholesterolemia have been recently published.SUMMARYRecent genetic studies of the Plain community continue to highlight the value of studying isolated populations to propel genetic disease discovery and treatment. Additionally, population-specific polygenic risk scores are needed for underrepresented and minority populations, to avoid exacerbating disparities in medical genetics care. Finally, it is important for clinicians to develop management guidelines for variants common in this rapidly growing population, such as propionic acidemia.
本综述的目的是重点介绍最近对阿米什和门诺派(平原)社区进行的遗传研究。几十年来,对遗传隔离人群的研究提高了我们对影响所有人群的遗传疾病的认识和管理水平。最新发现目前对阿米什人和门诺人的遗传研究的主要主题包括新的致病基因和新的候选基因的发现、以前发现的遗传疾病的表型扩展以及 AAV9 介导的基因治疗的靶点。此外,还开展了几项全基因组关联研究(GWAS),对痴呆症、心脏代谢疾病和老年黄斑变性等复杂性状进行了研究。最后,最近发表了与临床相关的研究报告,内容涉及平原社区对基因检测和远程医疗的态度,以及对丙酸血症和 APOB 相关家族性高胆固醇血症的阿米什变体的回顾和管理建议。此外,还需要对代表性不足的少数群体进行特定人群多基因风险评分,以避免加剧医学遗传学治疗中的差异。最后,对于临床医生来说,重要的是为这一快速增长的人群中常见的变异体(如丙酸血症)制定管理指南。
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引用次数: 0
Practical considerations in diagnosing inborn errors of immunity according to the Middle East and North Africa guidelines. 根据中东和北非指南诊断先天性免疫错误的实际考虑因素。
IF 3.6 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-05 DOI: 10.1097/mop.0000000000001391
Ilknur Kulhas Celik,Gholamreza Azizi,Hasibe Artac
PURPOSE OF REVIEWThe rate of inborn errors of immunity (IEI) in the Middle East and North Africa (MENA) region is generally higher than in other parts of the world. IEI patients in MENA exhibit more severe disease phenotypes. One of the most important reasons for this is delayed diagnosis. In this review, we examine issues pertinent to primary, secondary, and tertiary physicians in diagnosing IEI in children and discuss the key points for pediatricians according to the MENA guideline.RECENT FINDINGSProtocols and stepwise approaches designed by a panel of clinical immunologists included in the MENA-IEI registry network can help physicians facilitate the diagnosis of patients with IEI by providing recommendations. These recommendations for diagnostic approaches improve the care of patients within the MENA region and can also be applied to IEI patients in other parts of the world other regions.SUMMARYPhysicians in the MENA region should be aware of IEI, obtain a detailed family history, request tests that can be ordered in primary care when IEI is suspected, and refer patients to clinical immunologists without delay. Primary and secondary care physicians should be aware that patients with IEI may present with noninfectious manifestations and increased infection frequency, severity, and atypical infections.
综述目的 中东和北非地区的先天性免疫错误(IEI)发病率普遍高于世界其他地区。中东和北非地区的先天性免疫错误患者表现出更严重的疾病表型。造成这种情况的最重要原因之一是诊断延误。在这篇综述中,我们探讨了初级、二级和三级医生在诊断儿童 IEI 时遇到的相关问题,并根据 MENA 指南讨论了儿科医生的工作要点。这些诊断方法建议可改善对中东和北非地区患者的护理,也可适用于世界其他地区的 IEI 患者。摘要:中东和北非地区的医生应了解 IEI,获得详细的家族病史,在怀疑有 IEI 时要求进行可在初级保健中进行的检查,并立即将患者转诊给临床免疫学家。初级和二级保健医生应了解 IEI 患者可能会出现非感染性表现,感染频率、严重程度和非典型感染都会增加。
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引用次数: 0
Management of undescended testis. 睾丸下垂的治疗
IF 2.2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-01 DOI: 10.1097/MOP.0000000000001387
Seth Saylors, Tolulope A Oyetunji

Purpose of review: Describe why this review is timely and relevant.Undescended testis, or cryptorchidism, is a common diagnosis encountered by pediatricians that requires timely collaboration with pediatric surgical specialists to optimize outcomes for these patients. As this topic continues to be heavily researched, it is imperative to understand current recommendations and emerging management options including new surgical techniques, as well as common pitfalls in care highlighted in the literature.

Recent findings: Describe the main themes in the literature covered by the article.This review primarily examines current practice in management including delays in surgical referral, with unnecessary imaging being a key factor that delays time to surgery. This review briefly discusses the diagnosis of undescended testis and the various surgical techniques used including the more recently proposed laparoscopic staged traction orchiopexy (Shehata technique). The ineffectiveness of hormonal therapy is also addressed.

Summary: describe the implications of the findings for clinical practice or research.This review emphasizes prompt evaluation and diagnosis of undescended testis to facilitate appropriately timed surgical intervention, which plays a major role in outcomes for these patients. Identifying patients at risk of delayed referral is an area of focus for improvement, along with better resource utilization with fewer imaging. Familiarization of surgical options can also facilitate better patient education and provider understanding of risks/benefits.

综述目的:未降睾丸或隐睾症是儿科医生遇到的一种常见诊断,需要及时与儿科外科专家合作,以优化这些患者的治疗效果。随着对这一主题的不断深入研究,了解当前的建议和新出现的管理方案(包括新的手术技术)以及文献中强调的常见护理误区势在必行:这篇综述主要探讨了当前的管理实践,包括手术转诊的延误,而不必要的影像学检查是延误手术时间的关键因素。这篇综述简要讨论了睾丸下降不全的诊断和各种手术技术,包括最近提出的腹腔镜分期牵引睾丸切除术(Shehata技术)。本综述强调及时评估和诊断睾丸下降不全,以便适时进行手术干预,这对这些患者的预后起着重要作用。识别有延迟转诊风险的患者是一个需要重点改进的领域,同时通过减少影像学检查来提高资源利用率。熟悉手术方案也有助于更好地教育患者和让医疗服务提供者了解风险/益处。
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引用次数: 0
Neonatal skin health and associated dermatological conditions. 新生儿皮肤健康及相关皮肤病。
IF 2.2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-08-01 Epub Date: 2024-05-31 DOI: 10.1097/MOP.0000000000001372
Shawheen J Rezaei, Danny Linggonegoro, Shehla Admani

Purpose of review: This review describes recent developments in neonatal skincare management and situates these findings within the preexisting literature on neonatal dermatology.

Recent findings: The studies included in this review expand research methods evaluating skincare management to different contexts across the world. Several studies explore the roles of emollient therapy, disinfection, and skin-to-skin contact on improving neonates' long-term health outcomes. Recent findings also assess the impact of neonatal interventions on atopic dermatitis risk later in life as well as epidemiological and microbiome variables that may predict this risk. Additionally, updates on various dermatological conditions unique to neonates are discussed in further detail.

Summary: Neonatal skincare management differs in notable ways from that of other age groups. The presentation of dermatologic diseases as well as the rare conditions that affect neonates make their clinical management unique. The recent literature on neonatal dermatology can help inform clinicians regarding important considerations in treating their neonatal population.

综述目的:本综述介绍了新生儿护肤管理方面的最新进展,并将这些研究结果与已有的新生儿皮肤病学文献进行了对比:本综述中的研究将评估护肤管理的研究方法扩展到全球不同的环境中。多项研究探讨了润肤疗法、消毒和皮肤接触对改善新生儿长期健康状况的作用。最新研究结果还评估了新生儿干预措施对日后特应性皮炎风险的影响,以及可能预测这种风险的流行病学和微生物组变量。此外,还进一步详细讨论了新生儿特有的各种皮肤病的最新情况。摘要:新生儿护肤管理与其他年龄组的新生儿护肤管理有明显不同。皮肤病的表现形式以及影响新生儿的罕见病症使他们的临床管理独具特色。有关新生儿皮肤病学的最新文献可帮助临床医生了解治疗新生儿的重要注意事项。
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引用次数: 0
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Current opinion in pediatrics
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