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Clinical characteristics of severe influenza as a risk factor for febrile seizures in children: a retrospective analysis. 严重流感作为儿童发热性惊厥风险因素的临床特征:回顾性分析。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-23 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1418499
Peng Li, Mei Chen, Daobin Wang, Xue Zhang, Ruiyang Sun, Wanyu Jia, Shuqin Fu, Junhao Cui, Chunlan Song

Objective: To retrospectively analyze the clinical characteristics and independent risk factors of severe influenza combined with febrile seizures, and to provide more basis for early clinical intervention.

Methods: A total of 161 children with severe influenza were collected as study subjects and divided into convulsive (FC) group (40 cases) and non-convulsive (NFC) group (121 cases) according to whether they had febrile seizures. The demographic characteristics and clinical data of the two groups were analyzed. Multivariate logistic regression was used to analyze the risk factors of severe influenza combined with febrile seizures. The predictive efficacy was evaluated by receiver operating characteristic (ROC) curve analysis.

Results: (1) Multiple logistic regression analysis revealed that C-reactive protein (CRP) levels, Serum interleukin 6 (IL-6) levels, Days from onset of Flu symptoms to hospitalization, cerebrospinal fluid protein (CSF-TP) levels and the influenza virus type A (FluA) infection rate were found to be independent risk factors for severe influenza combined with febrile seizures in children. (2) ROC curve analysis showed that the cut-off value of CRP, Serum IL-6, Days from onset of Flu symptoms to hospitalization and CSF-TP were 7.57 mg/L, 9.84 pg/ml, 4.5 days and 194.8 mg/L, respectively.

Conclusion: Children with severe influenza with CRP ≥ 7.57 mg/L, Serum IL-6 ≥ 9.84 pg/ml, Days from onset of Flu symptoms to hospitalization ≤4.5 days, CSF-TP ≥ 194.8 mg/L and FluA had a significantly increased risk of febrile seizures. It is useful for clinicians to determine the risk of severe influenza combined with febrile seizures, to adjust the early treatment plan, and to reduce the incidence of critically ill patients.

目的回顾性分析重症流感合并发热性惊厥的临床特征及独立危险因素,为早期临床干预提供更多依据:方法:收集 161 例重症流感患儿作为研究对象,根据其是否出现发热性惊厥分为惊厥组(40 例)和非惊厥组(121 例)。分析了两组患者的人口统计学特征和临床数据。采用多变量逻辑回归分析重症流感合并发热性癫痫发作的风险因素。结果:(1)多元逻辑回归分析显示,C反应蛋白(CRP)水平、血清白细胞介素6(IL-6)水平、从流感症状出现到住院的天数、脑脊液蛋白(CSF-TP)水平和甲型流感病毒(FluA)感染率是儿童重症流感合并发热性惊厥的独立危险因素。(2)ROC 曲线分析显示,CRP、血清 IL-6、流感症状出现至住院天数和 CSF-TP 的临界值分别为 7.57 mg/L、9.84 pg/ml、4.5 天和 194.8 mg/L:结论:CRP≥7.57 mg/L、血清IL-6≥9.84 pg/ml、从出现流感症状到住院的天数≤4.5天、CSF-TP≥194.8 mg/L和FluA的重症流感患儿发热性惊厥的风险显著增加。这对临床医生确定重症流感合并发热性惊厥的风险、调整早期治疗方案以及降低重症患者的发病率很有帮助。
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引用次数: 0
Ultrasound analysis of different forms of hemolytic uremic syndrome in children. 不同形式儿童溶血性尿毒症综合征的超声波分析。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-23 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1433812
Lydia Rink, Ilja Finkelberg, Martin Kreuzer, Lukas Schipper, Lars Pape, Metin Cetiner

Background: Hemolytic uremic syndrome (HUS) is the most common cause of acute kidney injury in children. It is mainly caused by Shiga toxin-producing enterohemorrhagic Escherichia coli (EHEC; STEC-HUS) and is more rarely caused by uncontrolled complement activation (cHUS). Renal replacement therapy is frequently required and kidney function recovers in the majority of patients. Ultrasound (US) is the preferred imaging modality for the evaluation of any renal failure. The aim of this study is the evaluation of US diagnostics in both HUS types at disease onset and in the course of the disease.

Materials and methods: Clinical, laboratory, and US data from the digital patient records of children admitted as inpatients with a diagnosis of HUS were recruited for a monocentric, retrospective analysis. STEC-HUS and cHUS were diagnosed when, in addition to the laboratory constellation, EHEC infection and complement system activation were verified, respectively. US examinations were performed by pediatricians with certified pediatric US experience.

Results: In total, 30 children with STEC-HUS (13/25 male; median age of disease onset 2.9 years; most prevalent EHEC serotype was O157) and cHUS (2/5 male; median age of disease onset 5.4 years; 3/5 with proven pathogenic variation) were included. Renal replacement therapy proportions were comparable in the STEC-HUS and cHUS patients (64% vs. 60%). The resistance index (RI) was elevated at disease onset in the patients with STEC-HUS and cHUS (0.88 ± 0.10 vs. 0.77 ± 0.04, p = 0.13) and was similar in the STEC-HUS subcohorts divided based on dialysis requirement (yes: 0.86 ± 0.1; no: 0.88 ± 0.1; p = 0.74). Total kidney size at disease onset displayed a positive correlation with dialysis duration (R = 0.53, p = 0.02) and was elevated in both HUS types (177% ± 56 and 167% ± 53). It was significantly higher in the STEC-HUS subcohort which required dialysis (200.7% vs. 145%, p < .029), and a regressor kidney size threshold value of 141% was indicated in the receiver operating characteristic analysis. A classification model using both US parameters sequentially might be of clinical use for predicting the need for dialysis in patients with STEC-HUS. The US parameters normalized over time.

Conclusion: The US parameters of RI and total kidney size are valuable for the assessment of HUS at disease onset and during therapy, and may be helpful in the assessment of whether dialysis is required in patients with STEC-HUS.

背景:溶血性尿毒症(HUS)是儿童急性肾损伤最常见的原因。它主要由产志贺毒素的肠出血性大肠埃希氏菌(EHEC;STEC-HUS)引起,由失控补体激活(cHUS)引起的情况较为罕见。通常需要进行肾脏替代治疗,大多数患者的肾功能可以恢复。超声波(US)是评估任何肾功能衰竭的首选成像方式。本研究的目的是评估两种类型的 HUS 在发病时和病程中的 US 诊断情况:研究人员从诊断为 HUS 的住院患儿的数字病历中收集了临床、实验室和 US 数据,并进行了单中心回顾性分析。STEC-HUS和cHUS的诊断除了实验室检查结果外,还分别验证了EHEC感染和补体系统激活。US检查由具有儿科US认证经验的儿科医生进行:结果:共纳入30名STEC-HUS(13/25为男性;中位发病年龄为2.9岁;最常见的EHEC血清型为O157)和cHUS(2/5为男性;中位发病年龄为5.4岁;3/5经证实存在致病变异)患儿。STEC-HUS 和 cHUS 患者接受肾脏替代治疗的比例相当(64% 对 60%)。STEC-HUS 和 cHUS 患者发病时的抵抗指数(RI)升高(0.88 ± 0.10 vs. 0.77 ± 0.04,p = 0.13),根据透析要求划分的 STEC-HUS 亚群的抵抗指数相似(是:0.86 ± 0.1;否:0.88 ± 0.1;p = 0.74)。发病时的肾脏总体积与透析持续时间呈正相关(R = 0.53,p = 0.02),两种 HUS 类型的肾脏总体积均增大(177% ± 56 和 167% ± 53)。在需要透析的 STEC-HUS 亚群中,这一比例明显更高(200.7% vs. 145%,p 结论:STEC-HUS 亚群中的 RI 和总肾功能指标与透析时间相关(R = 0.53,p = 0.02):RI和肾脏总大小的 US 参数对于在发病时和治疗期间评估 HUS 很有价值,并有助于评估 STEC-HUS 患者是否需要透析。
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引用次数: 0
The impact of early surgical ventricular septal defect repair on parenting behavior and mother-child relationship: a prospective longitudinal study. 早期室间隔缺损手术修复对养育行为和母子关系的影响:一项前瞻性纵向研究。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-23 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1455310
Jonas Hemetsberger, Stefan Mestermann, Hannah Nicol, Ariawan Purbojo, Robert A Cesnjevar, Oliver Kratz, Anna Eichler, Jennifer Gerlach

Introduction: Many studies have investigated the impact of congenital heart defects (CHD) on child development. However, because CHD not only affects the child and his or her development but, also the entire family, family functioning after pediatric cardiac surgery is of increasing research interest. This prospective childhood-adolescence case-control study aimed to examine differences and changes in parenting behavior and mother-child relationship quality after early surgical repair of an isolated ventricular septum defect (VSD) compared to non-affected controls.

Patients and methods: 39 affected children (M = 7.3 years) with surgically repaired VSD and their mothers were compared with a matched, non-affected control group of 39 mother-child-dyads (M = 7.3 years) during primary school age (t1). At child early adolescence, 24 affected children (M = 12.4 years) and 24 children of the control group (M = 13.2 years) were examined again (t2). Parenting behavior characteristics (t1: mother report; t2: mother- and child report) and mother-child relationship quality (t2: child report) were measured by standardized questionnaires.

Results: The mother-rated parenting behavior dimensions Involvement (p < .001, η2 p  = .37), Parental Monitoring (p = .014, η2 p  = .17) and Corporal Punishment (p < .001, η2 p  = .57) significantly decreased from t1 to t2 in both cohorts. Responsible Parenting Behavior tended to decrease from t1 to t2 in the control group, while remaining stable in the VSD-group (p = .088, η2 p  = .09). Independent of the group, higher mother-child relationship quality was associated with more Positive Parenting Behavior (p < .001, η2 p  = .34), more Involvement (p = .003, η2 p  = .22) and fewer Inconsistency (p < .001, η2 p  = .31) in the child-rating; and more Positive Parenting Behavior in the mother-rating (p = .039, η2 p  = .10).

Conclusion: VSD affected mother-child-dyads were mostly comparable in their parenting behavior characteristics and mother-child relationship quality to non-affected controls. The absence of a decrease in maternal Responsible Parenting Behavior in the VSD group may indicate challenges during the developmental task of autonomy in adolescence. Nevertheless, adaptive family functioning after early pediatric surgical VSD repair seems possible.

导言:许多研究都探讨了先天性心脏缺陷(CHD)对儿童发育的影响。然而,由于先天性心脏病不仅会影响儿童及其发育,还会影响整个家庭,因此小儿心脏手术后家庭功能的研究兴趣日益浓厚。这项前瞻性儿童-青春期病例对照研究旨在考察孤立性室间隔缺损(VSD)早期手术修复后与未受影响的对照组相比,育儿行为和母子关系质量的差异和变化。患者和方法:将 39 名经手术修复的 VSD 患儿(男 = 7.3 岁)及其母亲与 39 名母子二人组(男 = 7.3 岁)中小学年龄组(t1)的匹配非受影响对照组进行比较。在儿童青春期早期,24 名受影响儿童(中龄=12.4 岁)和 24 名对照组儿童(中龄=13.2 岁)再次接受了检查(t2)。养育行为特征(t1:母亲报告;t2:母亲和儿童报告)和母子关系质量(t2:儿童报告)通过标准化问卷进行测量:结果:从 t1 到 t2,母亲评定的养育行为维度 "参与"(p η2 p = .37)、"父母监督"(p = .014,η2 p = .17)和 "体罚"(p η2 p = .57)在两个组群中均显著下降。在对照组中,负责任的养育行为从 t1 到 t2 呈下降趋势,而在 VSD 组中则保持稳定(p = .088, η2 p = .09)。与组别无关,在儿童评分中,母子关系质量越高,积极养育行为越多(p η2 p = .34),参与度越高(p = .003,η2 p = .22),不一致性越小(p η2 p = .31);在母亲评分中,积极养育行为越多(p = .039,η2 p = .10):结论:受 VSD 影响的母子二人组在养育行为特征和母子关系质量方面与未受影响的对照组基本相当。在 VSD 群体中,母亲的负责任养育行为没有减少,这可能表明在青春期自主发展任务中存在挑战。尽管如此,小儿 VSD 早期手术修复后的家庭功能适应似乎是可能的。
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引用次数: 0
Benign and malignant breast lesions in children and adolescents - diagnostic and therapeutic approach. 儿童和青少年乳房良性和恶性病变--诊断和治疗方法。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-23 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1417050
Patrycja Sosnowska-Sienkiewicz, Danuta Januszkiewicz-Lewandowska, Przemysław Mańkowski

Benign and malignant breast lesions in children and adolescents are rare compared to adults. Most tumors are benign. Malignant breast lesions are extremely rare. Fibroadenomas are the most common, accounting for 95% of all lesions. Diagnosis is based on history and physical examination of the breast and armpit. Imaging studies include ultrasound, mammography, and magnetic resonance imaging. Ultrasound is the most commonly used imaging test. Other tests are used in cases of diagnostic doubt. Core needle biopsy should be considered for appropriate diagnostic management. Excisional biopsy should be considered for complex clinical conditions and imaging studies. Except in doubtful situations in children and adolescent girls, a conservative approach and observation of the lesions along with periodic ultrasound examination initially every 6-12 months is advisable. Management of malignant breast lesions in children typically involves a multidisciplinary team consisting of pediatric oncologists, surgeons, radiation oncologists, pathologists, and other specialists and depends on the clinical condition of the patient. An important aspect is the experience of the clinician and radiologist in the treatment of breast lesions, as well as increasing patient and family awareness of possible breast lesions and self-examination. This review aims to provide a scoping overview of the available literature on benign and malignant lesions of the breast in pediatric and adolescent populations to assist physicians and surgeons in making decisions regarding the appropriate diagnosis and management of pediatric breast disease.

与成人相比,儿童和青少年的乳腺良性和恶性病变都很罕见。大多数肿瘤是良性的。恶性乳腺病变极为罕见。纤维腺瘤最常见,占所有病变的 95%。诊断主要依据病史以及对乳房和腋窝的体格检查。影像学检查包括超声波、乳房 X 线照相术和磁共振成像。超声波是最常用的成像检查。其他检查用于诊断有疑问的病例。为进行适当的诊断处理,应考虑进行核心针活检。对于复杂的临床情况和影像学检查,应考虑切除活检。除了儿童和青春期少女的可疑情况外,建议采取保守方法,观察病变情况,并定期进行超声波检查,最初每 6-12 个月一次。儿童乳腺恶性病变的治疗通常需要一个由儿科肿瘤学家、外科医生、放射肿瘤学家、病理学家和其他专家组成的多学科团队,并取决于患者的临床状况。其中一个重要方面是临床医生和放射科医生在治疗乳腺病变方面的经验,以及提高患者和家属对可能的乳腺病变和自我检查的认识。本综述旨在概述有关儿童和青少年乳腺良性和恶性病变的现有文献,以帮助内科医生和外科医生就儿童乳腺疾病的适当诊断和治疗做出决定。
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引用次数: 0
Infant formula with added Lacticaseibacillus rhamnosus GG supported adequate growth and was well tolerated in healthy term infants: a randomized controlled trial. 添加鼠李糖乳杆菌(Lacticaseibacillus rhamnosus GG)的婴儿配方奶粉有助于健康足月婴儿的充分生长,且耐受性良好:随机对照试验。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-23 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1456607
Carol Lynn Berseth, Michael Yeiser, Cheryl L Harris, Jennifer N Kinnaman, Victoria Lappin, Jennifer L Wampler, Weihong Zhuang, Jon Vanderhoof

Introduction: Lacticaseibacillus rhamnosus GG (LGG) is a well-studied probiotic with a history of safe use.

Methods: In this double-blind, prospective study, growth and tolerance were evaluated in healthy term infants randomized to: marketed, routine intact cow's milk protein-based formula (Control, n = 172) or a similar investigational formula with added LGG (INV-LGG, n = 179; 106 CFU LGG®/g powder) from 14 to 120 days of age. Anthropometrics, stool characteristics, fussiness, and gassiness were evaluated through Day 120. Medically confirmed adverse events were recorded throughout the study period. The primary outcome was rate of weight gain from Day 14-120.

Results: Of 351 infants enrolled, 275 completed (Control, n = 131; INV-LGG, n = 144). No significant group differences in rate of weight gain from Day 14-120 were detected. Study formula acceptance and tolerance was good with no significant differences in study discontinuation due to study formula or parent-reported gassiness, stool frequency, or stool consistency; however mean fussiness relative to normal was significantly lower for INV-LGG vs Control at Days 60 and 90.

Discussion: In healthy term infants, a routine intact cow's milk protein-based formula with added LGG supported adequate growth and was well tolerated. Further studies are needed to evaluate potential benefits for fussiness and efficacy outcomes.

Clinical trial registration: Clinicaltrials.gov, identifier (NCT01897922).

简介鼠李糖乳杆菌 GG(Lacticaseibacillus rhamnosus GG,LGG)是一种经过充分研究的益生菌,具有安全使用的历史:在这项双盲、前瞻性研究中,我们对健康足月婴儿的生长和耐受性进行了评估,婴儿在出生后 14 到 120 天内被随机分配到两种配方奶粉中:一种是市场上销售的、以完整牛乳蛋白为基础的常规配方奶粉(对照组,n = 172),另一种是添加了 LGG 的类似研究配方奶粉(INV-LGG,n = 179;106 CFU LGG®/g 粉)。在第 120 天之前,对婴儿的人体测量、粪便特征、烦躁和腹泻情况进行了评估。在整个研究期间记录了经医学证实的不良事件。主要结果是第 14-120 天的体重增加率:结果:在 351 名参加研究的婴儿中,275 名完成了研究(对照组,n = 131;INV-LGG 组,n = 144)。在第 14-120 天的体重增加率方面,未发现明显的组间差异。婴儿对配方奶粉的接受度和耐受性良好,因配方奶粉或家长报告的腹胀、大便次数或大便稠度而中止研究的情况无显著差异;但在第 60 天和第 90 天,INV-LGG 与对照组相比,婴儿相对于正常婴儿的平均烦躁程度显著降低:对于健康的足月婴儿,添加了 LGG 的以完整牛奶蛋白为基础的常规配方奶粉可支持婴儿的充分生长,而且耐受性良好。还需要进一步的研究来评估添加 LGG 对婴儿烦躁和疗效的潜在益处:临床试验注册:Clinicaltrials.gov,标识符(NCT01897922)。
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引用次数: 0
Neurodevelopmental outcome in children between one and five years after persistent pulmonary hypertension of term and near-term newborns. 足月和近足月新生儿持续肺动脉高压后 1 至 5 岁儿童的神经发育结果。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-23 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1450916
Laetitia Atlan, Lionel Berthomieu, Caroline Karsenty, Géraldine Gascoin, Catherine Arnaud, Sophie Breinig

Background: Persistent pulmonary hypertension of the newborn (PPHN) is a serious condition that affects 1-2 per 1,000 newborns. Scientific data report the existence of neurological developmental abnormalities between 10 and 30%, but the description of these disorders linked with this situation of cerebral hypoxia and haemodynamic failure remains poorly documented.

Objective: The main goal of this study was to describe the prevalence of neuro-psychomotor developmental disorders in children aged between one and five years old who have been hospitalised at birth in a neonatal intensive care unit for the management of PPHN.

Methods: All of the newborns ≥34 weeks of gestational age (WGA) with PPHN, treated with inhaled nitric oxide in our neonatal intensive care unit between January 2015 and December 2019 were retrospectively enrolled. An ASQ-3 standardised questionnaire, adapted to the appropriate age (12, 24, 36, 48 and 60 months) was performed by the parents.

Results: Fifty-five children (81% of answers) with a median age of 36 months (11-68), whose real age was close to the one of the questionnaire (12, 24, 36, 48 and 60 months), have been included in this study. There was 47% of pathological score [borderline: less than 1 standard deviation (SD) or suspect: less than 2SD] in at least one of the five studied domains, mainly in communication (25%) and individual and social skills (22%), despite a high overall score of 250 [220; 285] out of 300 that improved with age.

Conclusion: This study showed a significant prevalence of neuro-psychomotor developmental disorders which justifies making more accessible a prolonged and adapted follow-up for early and multidisciplinary screening and management of these children with PPHN history. Larger cohorts are needed to better explore long term outcome of these vulnerable term neonates.

背景:新生儿持续性肺动脉高压(PPHN)是一种严重的疾病,每 1,000 名新生儿中就有 1-2 人患病。科学数据显示,10% 至 30% 的新生儿存在神经系统发育异常,但关于这些与脑缺氧和血流动力学衰竭有关的疾病的描述仍然很少:本研究的主要目的是描述因 PPHN 而在新生儿重症监护室住院治疗的 1 至 5 岁儿童的神经-心理-运动发育障碍性疾病的发病率:回顾性纳入2015年1月至2019年12月期间在我院新生儿重症监护室接受吸入一氧化氮治疗的所有胎龄≥34周(WGA)的PPHN新生儿。家长进行了根据相应年龄(12、24、36、48 和 60 个月)调整的 ASQ-3 标准化问卷调查:本研究共纳入 55 名儿童(占答卷的 81%),中位年龄为 36 个月(11-68 个月),他们的实际年龄与问卷调查的年龄接近(12、24、36、48 和 60 个月)。尽管总分高达 250 [220; 285](满分 300 分),而且随着年龄的增长,得分也有所提高,但仍有 47% 的儿童在五个研究领域中至少有一个领域出现病态得分[边缘:小于 1 标准差(SD)或可疑:小于 2SD],主要是在沟通(25%)和个人及社交能力(22%)方面:这项研究表明,神经-心理-运动发育障碍的发病率很高,因此有必要对这些有 PPHN 病史的儿童进行更多的长期、适应性随访,以进行早期、多学科筛查和管理。为了更好地了解这些脆弱的足月新生儿的长期预后,需要进行更大规模的队列研究。
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引用次数: 0
Case Report: A delicate equilibrium of exocrine pancreatic recovery and hepatotoxicity with elexacaftor/tezacaftor/ivacaftor therapy in a pediatric patient with cystic fibrosis. 病例报告:一名患有囊性纤维化的儿童患者在接受 elexacaftor/tezacaftor/ivacaftor 治疗后,胰腺外分泌功能恢复与肝毒性之间的微妙平衡。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-23 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1457517
Michael P Coughlin, Senthilkumar Sankararaman, Erica A Roesch, Emily D Certo, Benjamin L Brej, Michael W Konstan

This case report presents a comprehensive evaluation of the complex balance of therapeutic benefits and potential risks associated with the cystic fibrosis transmembrane conductance regulator (CFTR) modulator elexacaftor/tezacaftor/ivacaftor (ETI) therapy in managing an eight-year-old male with cystic fibrosis (CF) and exocrine pancreatic insufficiency (EPI). While ETI therapy significantly enhanced exocrine pancreatic function, it led to hepatotoxicity, necessitating therapy discontinuation. Attempts to restart ETI at reduced doses were unsuccessful due to persistent hepatic dysfunction. Reduced ETI dosing frequency, implemented due to hepatic dysfunctions, did not result in substantial therapeutic benefits. Clinical markers showed a resurgence of severe EPI and sustained need for gastrostomy tube feeds, with only modest improvement in hepatic function compared to the period following ETI cessation or during prior use of CFTR modulator therapy with lumacaftor/ivacaftor. This case underscores the importance of personalized therapeutic approaches, biomarker-guided monitoring, and multidisciplinary insights to optimize CF management while also highlighting the ongoing need for research to mitigate hepatotoxicity risks and ensure long-term therapeutic efficacy.

本病例报告全面评估了囊性纤维化跨膜传导调节剂(CFTR)调节剂 elexacaftor/tezacaftor/ivacaftor(ETI)疗法在治疗一名患有囊性纤维化(CF)和胰腺外分泌功能不全(EPI)的八岁男性患者时,在治疗效果和潜在风险之间的复杂平衡。虽然ETI疗法能显著增强胰腺外分泌功能,但却导致了肝毒性,因此不得不停止治疗。由于肝功能障碍持续存在,试图减量重新开始 ETI 治疗的尝试未获成功。由于肝功能障碍而减少 ETI 给药次数,也没有带来实质性的治疗效果。临床指标显示,严重 EPI 复发,持续需要胃造瘘管喂养,与停用 ETI 后或之前使用 CFTR 调节剂 lumacaftor/ivacaftor 治疗期间相比,肝功能仅略有改善。该病例强调了个性化治疗方法、生物标志物指导下的监测和多学科见解对优化 CF 管理的重要性,同时也凸显了当前研究减轻肝毒性风险和确保长期疗效的必要性。
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引用次数: 0
A rare case report of hemolysis in a newborn: hereditary elliptocytosis. 一例罕见的新生儿溶血病例报告:遗传性椭圆形细胞增多症。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-22 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1485318
Shouliang Jiang, Ruifeng Lu, Jun Tang

Introduction: Hereditary Elliptocytosis (HE) comprises clinically and genetically heterogeneous red cell membranopathies resulting from defects in the horizontal linkage between red blood cell (RBC) membrane and cytoskeletal proteins, which affect mechanical stability and deformability, thereby reducing RBC lifespan. The principal defect in HE is due to dysfunction or deficiency of RBC cytoskeletal proteins.

Case description: This study reported a case of severe hemolysis occurring within one day after birth in a term newborn. High-throughput sequencing was used to characterize the pathogenic gene variation in this child and to study the correlation between the identified variation and its corresponding phenotypic characteristics.

Conclusion: HE is caused by monoallelic mutations, which justify the phenotypic heterogeneity observed in patients. Furthermore, molecular analysis using high-throughput sequencing enables diagnosis in disorders with highly variable heterogeneity. HE can also present with severe hemolysis during the neonatal period.

导言:遗传性椭圆形红细胞增多症(HE)是一种临床和遗传异质性红细胞膜病,由红细胞(RBC)膜和细胞骨架蛋白之间的水平连接缺陷引起,影响机械稳定性和可变形性,从而缩短 RBC 的寿命。HE 的主要缺陷是由于红细胞细胞骨架蛋白功能障碍或缺乏所致:本研究报告了一例足月新生儿在出生后一天内发生严重溶血的病例。研究人员利用高通量测序技术确定了该患儿致病基因变异的特征,并研究了所发现的变异与其相应表型特征之间的相关性:结论:HE 是由单拷贝基因突变引起的,这说明在患者身上观察到的表型异质性是合理的。此外,利用高通量测序技术进行分子分析可对具有高度异质性的疾病进行诊断。HE 还可能在新生儿期出现严重溶血。
{"title":"A rare case report of hemolysis in a newborn: hereditary elliptocytosis.","authors":"Shouliang Jiang, Ruifeng Lu, Jun Tang","doi":"10.3389/fped.2024.1485318","DOIUrl":"10.3389/fped.2024.1485318","url":null,"abstract":"<p><strong>Introduction: </strong>Hereditary Elliptocytosis (HE) comprises clinically and genetically heterogeneous red cell membranopathies resulting from defects in the horizontal linkage between red blood cell (RBC) membrane and cytoskeletal proteins, which affect mechanical stability and deformability, thereby reducing RBC lifespan. The principal defect in HE is due to dysfunction or deficiency of RBC cytoskeletal proteins.</p><p><strong>Case description: </strong>This study reported a case of severe hemolysis occurring within one day after birth in a term newborn. High-throughput sequencing was used to characterize the pathogenic gene variation in this child and to study the correlation between the identified variation and its corresponding phenotypic characteristics.</p><p><strong>Conclusion: </strong>HE is caused by monoallelic mutations, which justify the phenotypic heterogeneity observed in patients. Furthermore, molecular analysis using high-throughput sequencing enables diagnosis in disorders with highly variable heterogeneity. HE can also present with severe hemolysis during the neonatal period.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1485318"},"PeriodicalIF":2.1,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11534593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Key data elements for a successful pediatric rheumatology virtual visit: a survey within the PR-COIN network. 成功进行儿科风湿病虚拟就诊的关键数据要素:PR-COIN 网络内的一项调查。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-22 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1457607
Y Ingrid Goh, Meghan E Ryan, Shoghik Akoghlanian, Rajdeep Pooni, Julia G Harris, Danielle R Bullock, Sheetal S Vora, Tzielan C Lee, Shirley M L Tse, Fatima Barbar-Smiley

Introduction: Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease which is commonly monitored by a combination of history, physical examination, bloodwork, and imaging. The COVID-19 pandemic prompted a rapid shift to telemedicine to ensure that patients continued to receive healthcare. The shift to telemedicine changed the methodology and ability of healthcare providers to monitor their patients' progress, as they were unable to perform direct hands-on assessments. The following survey sought to understand the impact of switching pediatric rheumatology healthcare delivery from in-person to telemedicine modality. Specifically, it sought to examine the rate of collection of critical data elements (CDE) for monitoring JIA disease activity and outcomes, barriers and facilitators to its collection, opinions on difficulty and importance of collecting CDE over telemedicine, tools and electronic medical record modifications that facilitated CDE collection, and other data elements that were important to collect during telemedicine visits.

Methods: A cross-sectional survey was sent to healthcare providers at all PR-COIN centers who saw patients using telemedicine. Qualitative data was analyzed using descriptive statistics and qualitative data was analyzed using an inductive approach.

Results: Survey respondents reported that they documented the CDE at least 75% of the time. Barriers to assessing and documenting critical data elements included (1) the inability to palpate or visualize all joints over telemedicine, (2) connectivity issues, and (3) forgetfulness with collecting all CDE. Respondents suggested using reminders within the electronic medical record to prompt documentation completeness and improve reliability. They also suggested including medication adherence, quality of life, and patient/caregiver satisfaction with their telemedicine experience as part of their documentation. A few centers reported that they had established processes to assist with data collection in advance of the telemedicine visit; however, the variation in responses reflects the need to standardize the process of providing care over telemedicine.

Discussion: Multiple barriers and facilitators to collecting CDE during telemedicine visits exist. Given that a proportion of the population will continue to be seen over telemedicine, teams need to adapt their practices to consistently provide high-quality care over virtual platforms, ensuring that patients at any institution receive a standardized level of service.

简介:幼年特发性关节炎(JIA)是最常见的儿童风湿性疾病,通常需要结合病史、体格检查、血液检查和影像学检查进行监测。COVID-19 大流行促使人们迅速转向远程医疗,以确保患者继续获得医疗服务。向远程医疗的转变改变了医疗服务提供者监测患者病情进展的方法和能力,因为他们无法进行直接的亲身评估。以下调查旨在了解儿科风湿病医疗服务从面对面转为远程医疗模式的影响。具体而言,该调查旨在研究用于监测 JIA 疾病活动和预后的关键数据元素(CDE)的收集率、收集的障碍和促进因素、对通过远程医疗收集 CDE 的难度和重要性的看法、有助于收集 CDE 的工具和电子病历修改,以及在远程医疗就诊期间需要收集的其他重要数据元素:向所有 PR-COIN 中心使用远程医疗为患者看病的医疗服务提供者发送了一份横向调查。采用描述性统计对定性数据进行分析,采用归纳法对定性数据进行分析:调查对象称,他们至少有 75% 的时间记录了 CDE。评估和记录关键数据元素的障碍包括:(1)无法通过远程医疗触诊或观察所有关节;(2)连接问题;(3)忘记收集所有 CDE。受访者建议在电子病历中使用提醒功能,以提示文档的完整性并提高可靠性。他们还建议将用药依从性、生活质量以及患者/护理人员对远程医疗体验的满意度作为文档记录的一部分。有几个中心报告说,他们在远程医疗访问之前就已经建立了协助数据收集的流程;然而,答复的差异反映出有必要对通过远程医疗提供护理的流程进行标准化:讨论:在远程医疗就诊过程中收集 CDE 存在多种障碍和促进因素。鉴于一部分人口将继续通过远程医疗就诊,医疗团队需要调整其做法,以便通过虚拟平台持续提供高质量的医疗服务,确保任何机构的患者都能获得标准化的服务。
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引用次数: 0
The pros and cons of probiotic use in pediatric oncology patients following treatment for acute lymphoblastic leukemia. 儿科肿瘤患者在接受急性淋巴细胞白血病治疗后使用益生菌的利弊。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-22 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1427185
Miroslava Šimiaková, Viktor Bielik

Acute lymphoblastic leukemia (ALL) treatment, involving chemotherapy, radiotherapy, and pharmacotherapy (antibiotics, antineoplastics) perturbs the gut microbiota in pediatric patients, with enduring effects post-treatment. ALL treatments diminish microbial richness and diversity, favoring pathogenic bacteria. Probiotics may offer promise in mitigating these disruptions and associated side effects. This mini-review explores the impact of ALL treatment on the gut microbiota and the potential benefits of probiotics in pediatric oncology. Probiotics have shown promise in restoring gut microbial balance, reducing treatment-associated side effects, and potentially improving quality of life. However, potential adverse effects, particularly in immunocompromised patients, warrant caution. Notably, there's emerging interest in probiotics' role in bone health and mineral bioaccessibility. Further research is needed to elucidate probiotics' mechanisms and their broader impact on pediatric health. Integration of probiotics into ALL treatment and post-treatment regimens offers significant potential for improving patient outcomes and reducing treatment-related complications and long-lasting disruptions, although careful monitoring is essential.

急性淋巴细胞白血病(ALL)的治疗包括化疗、放疗和药物治疗(抗生素、抗肿瘤药),会扰乱儿童患者的肠道微生物群,并在治疗后产生持久影响。白血病治疗会降低微生物的丰富性和多样性,有利于致病菌的生长。益生菌有望缓解这些干扰和相关副作用。这篇微型综述探讨了 ALL 治疗对肠道微生物群的影响以及益生菌在儿科肿瘤学中的潜在益处。益生菌在恢复肠道微生物平衡、减少与治疗相关的副作用以及改善生活质量方面显示出前景。然而,潜在的不良反应,尤其是对免疫力低下的患者,值得警惕。值得注意的是,人们开始关注益生菌在骨骼健康和矿物质生物可及性方面的作用。要阐明益生菌的作用机制及其对儿科健康的广泛影响,还需要进一步的研究。将益生菌纳入 ALL 治疗和治疗后方案为改善患者预后、减少与治疗相关的并发症和长期干扰提供了巨大的潜力,但仔细监测是必不可少的。
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引用次数: 0
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Frontiers in Pediatrics
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