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Understanding necrotizing enterocolitis endotypes and acquired intestinal injury phenotypes from a historical and artificial intelligence perspective. 从历史和人工智能的角度理解坏死性小肠结肠炎内型和获得性肠损伤表型。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-27 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1432808
Alain Cuna, Navin Kumar, Venkatesh Sampath

Necrotizing enterocolitis (NEC) remains a devastating disease in preterm and term neonates. Despite significant progress made in understanding NEC pathogenesis over the last 50 years, the inability of current definitions to discriminate the various pathophysiological processes underlying NEC has led to an umbrella term that limits clinical and research progress. In this mini review, we provide a historical perspective on how NEC definitions and pathogenesis have evolved to our current understanding of NEC endotypes. We also discuss how artificial intelligence-based approaches are influencing our knowledge of risk-factors, classification and prognosis of NEC and other neonatal intestinal injury phenotypes.

坏死性小肠结肠炎(NEC)仍然是早产儿和足月新生儿的一种毁灭性疾病。尽管在过去的 50 年中,人们在了解 NEC 发病机制方面取得了重大进展,但由于目前的定义无法区分 NEC 的各种病理生理过程,因此形成了一个限制临床和研究进展的总称。在这篇小型综述中,我们从历史的角度阐述了 NEC 定义和发病机制是如何演变到我们目前对 NEC 内型的理解的。我们还将讨论基于人工智能的方法如何影响我们对 NEC 和其他新生儿肠道损伤表型的风险因素、分类和预后的认识。
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引用次数: 0
"I'm a bathroom expert": a qualitative study exploring how students with physical disabilities manage toileting during college. "我是厕所专家":一项定性研究,探讨肢体残疾学生在大学期间如何处理如厕问题。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-27 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1397229
Oluwaferanmi O Okanlami, Jodi M Kreschmer, Saumya Gupta, Allison Lee, Aruna V Sarma, Courtney S Streur

Introduction: Health care providers caring for youth with physical disabilities encourage them to be as independent as possible, which includes obtaining higher education when feasible. However, little is known about the experiences of higher education students in managing their toileting.

Methods: We performed 1:1 semi-structured interviews with 13 current college students with physical disabilities (4 male, 9 female), of whom six were on a formal bladder and/or bowel management program. Three researchers analyzed all transcripts using constructivist grounded theory procedures.

Results: We identified six themes, including: (1) adherence to prescribed programs, (2) importance of time management, (3) interfering with class, (4) balancing intake and toileting, (5) campus bathroom experiences, and (6) acclimating to new living situations. Students needed strong personal skills in time management, adaptability, and self-advocacy to both manage their toileting needs and engage in academic and social activities. This often took time to develop while in college. They faced barriers such as a lack of private, well-maintained bathrooms.

Conclusions: Health care providers should encourage their patients to develop these personal skills prior to starting college, while colleges need to better support these students through honoring their accommodation needs and ensuring the availability of private, accessible bathrooms.

导言:照顾肢体残疾青少年的医疗服务提供者鼓励他们尽可能独立,其中包括在可行的情况下接受高等教育。然而,人们对接受高等教育的学生在如厕管理方面的经验知之甚少:我们对 13 名肢体残疾的在校大学生(4 名男生,9 名女生)进行了 1:1 半结构式访谈,其中 6 人正在接受正规的膀胱和/或排便管理计划。三位研究人员采用建构主义基础理论程序对所有笔录进行了分析:我们确定了六个主题,包括:(1) 遵守规定计划;(2) 时间管理的重要性;(3) 影响上课;(4) 平衡进食和如厕;(5) 校园浴室体验;(6) 适应新的生活环境。学生们需要在时间管理、适应能力和自我主张方面具备很强的个人技能,以便既能满足如厕需求,又能参与学术和社交活动。这往往需要在大学期间慢慢培养。他们还面临着一些障碍,例如缺乏私人的、维护良好的浴室:结论:医疗服务提供者应鼓励他们的病人在上大学前培养这些个人技能,而大学则需要通过满足这些学生的住宿需求和确保提供私人无障碍卫生间来更好地支持他们。
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引用次数: 0
The efficacy of curcumin/Qing Dai combination in children with active ulcerative colitis: a multicenter retrospective cohort study. 姜黄素/青黛复方制剂对活动性溃疡性结肠炎患儿的疗效:一项多中心回顾性队列研究。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-27 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1342656
Nurit Loberman Nachum, Nir Salomon, Anat Yerushalmy-Feler, Yael Weintraub, Dotan Yogev, Maya Granot, Yael Haberman, Shomron Ben-Horin, Batia Weiss

Background: Curcumin and Qing Dai (QD) are herbal extracts that recently showed efficacy in treating inflammatory bowel disease (IBD). Since 2016, a combination of curcumin with QD (CurQD) has been employed in our center for management of active ulcerative colitis (UC).

Objectives: We report the effectiveness and safety of CurQD therapy in children with mild-moderate UC or IBD-unclassified (IBD-U).

Design: A multicenter retrospective study.

Methods: Children aged ≤OP18 years who were treated with CurQD during 2017-2021 were included. Disease activity measures were Pediatric UC Activity Index (PUCAI), and fecal calprotectin (FC). The primary outcome was a decrease in PUCAI by ≥10 points, FC normalization (≤100 µg/gr when baseline ≥300 µg/gr) or a ≥ 50% decrease in FC.

Results: Of 30 patients (60% males, mean age 14 ± 3.9 years), 15 (50%), 13 (43%), and 2 (7%) had pancolitis, left-sided colitis and proctitis, respectively. The daily medication dose was 0.5-3 gm QD with 1-4 gm curcumin. Concomitant treatment at induction was corticosteroids (19%), biologics (28%) and 5-aminosalicylic acid (40%). The mean duration of induction was 11.6 weeks [95% confidence interval (CI) 10.2-13.1, range 8-16]. PUCAI decreased from a mean of 31.3 (95% CI 26.6-36.0, range 5-60) to 10.9 (95% CI 7.6-14.4, range 5-35) (n = 26, p < 0.001). FC response and normalization occurred in 11/12 and 7/12 patients, respectively. The median decline in FC was from 749 µg/gm [interquartile range (IQR) 566-1000] to 39 µg/gm (IQR 12-132) (n = 15, p = 0.04). During follow-up (median 8 months, IQR 6-10), 10 patients (33%) flared; five of them regained remission or responded to a treatment change. Of 18 patients treated beyond induction, 12 (67%) achieved clinical response and 10 achieved clinical remission by the end of follow up.

Conclusion: CurQD may be effective and safe as an add-on option to conventional management, for induction and maintenance in children with mild-moderate UC/IBD-U.

背景:姜黄素和青黛(QD)是草药提取物,最近显示出治疗炎症性肠病(IBD)的疗效。自2016年起,我们中心开始采用姜黄素与青黛(CurQD)联合治疗活动性溃疡性结肠炎(UC):我们报告了姜黄素联合 QD 治疗轻中度 UC 或未分类 IBD(IBD-U)患儿的有效性和安全性:多中心回顾性研究:纳入2017-2021年间接受CurQD治疗的年龄≤18岁的儿童。疾病活动指标为小儿 UC 活动指数(PUCAI)和粪便钙蛋白(FC)。主要结果是PUCAI下降≥10点、FC正常化(基线≥300 µg/gr时≤100 µg/gr)或FC下降≥50%:在 30 名患者(60% 为男性,平均年龄为 14 ± 3.9 岁)中,分别有 15 人(50%)、13 人(43%)和 2 人(7%)患有胰腺炎、左侧结肠炎和直肠炎。每日用药剂量为 0.5-3 克 QD,姜黄素 1-4 克。诱导时的伴随治疗包括皮质类固醇(19%)、生物制剂(28%)和 5-氨基水杨酸(40%)。平均诱导时间为 11.6 周[95% 置信区间(CI)10.2-13.1,范围 8-16]。PUCAI 从平均 31.3(95% 置信区间 26.6-36.0,范围 5-60)降至 10.9(95% 置信区间 7.6-14.4,范围 5-35)(n = 26,p n = 15,p = 0.04)。在随访期间(中位数为 8 个月,IQR 为 6-10 个月),有 10 名患者(33%)病情复发,其中 5 人恢复了缓解或对治疗方案的改变做出了反应。在接受诱导治疗后的18名患者中,12人(67%)获得了临床应答,10人在随访结束时获得了临床缓解:结论:CurQD作为常规治疗的附加疗法,在轻中度UC/IBD-U患儿的诱导和维持治疗中可能是有效和安全的。
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引用次数: 0
Trust of inpatient physicians among parents of children with medical complexity: a qualitative study. 复杂病症患儿家长对住院医生的信任:一项定性研究。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-27 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1443869
Tammie Dewan, Andrea Whiteley, Lyndsay Jerusha MacKay, Rachel Martens, Melanie Noel, Chantelle Barnard, Isabel Jordan, Anne Janvier, Sally Thorne

Background: Trust is a foundation of the therapeutic relationship and is associated with important patient outcomes. Building trust between parents of children with medical complexity (CMC) and physicians during inpatient care is complicated by lack of relational continuity, cumulative (sometimes negative) parent experiences and the need to adjust roles and expectations to accommodate parental expertise. This study's objective was to describe how parents of CMC conceptualize trust with physicians within the pediatric inpatient setting and to provide recommendations for building trust in these relationships.

Methods: Interviews with 16 parents of CMC were completed and analyzed using interpretive description methodology.

Results: The research team identified one overarching meta theme regarding factors that influence trust development: situational awareness is needed to inform personalized care of children and families. There were also six major themes: (1) ensuring that the focus is on the child and family, (2) respecting both parent and physician expertise, (3) collaborating effectively, (4) maintaining a flow of communication, (5) acknowledging the impact of personal attributes, and (6) recognizing issues related to the healthcare system.

Discussion: Many elements that facilitated trust development were also components of patient- and family-centered care. Parents in this study approached trust with inpatient physicians as something that needs to be earned and reciprocated. To gain the trust of parents of CMC, inpatient physicians should personalize medical care to address the needs of each child and should explore the perceptions, expertise, and previous experiences of their parents.

背景:信任是治疗关系的基础,与患者的重要治疗效果息息相关。在住院治疗期间,由于缺乏关系的连续性、家长经验的累积(有时是负面的)以及需要调整角色和期望以适应家长的专长,医疗复杂性儿童(CMC)的家长与医生之间建立信任变得复杂。本研究的目的是描述儿科住院病人的家长如何看待与医生之间的信任关系,并就如何在这种关系中建立信任提出建议:方法:对 16 名儿童疾病管理中心的家长进行了访谈,并采用解释性描述方法对访谈结果进行了分析:研究小组就影响信任发展的因素确定了一个总的元主题:需要有情景意识,以便为儿童和家庭提供个性化护理。此外,还有六大主题:(1)确保以儿童和家庭为中心;(2)尊重家长和医生的专业知识;(3)有效合作;(4)保持沟通顺畅;(5)承认个人属性的影响;(6)认识到与医疗保健系统相关的问题:许多促进信任发展的因素也是以病人和家庭为中心的护理的组成部分。在本研究中,家长们认为对住院医生的信任是需要争取和回报的。为了赢得儿童疾病管理中心家长的信任,住院医生应针对每个患儿的需求提供个性化的医疗服务,并探索家长的看法、专业知识和以往的经验。
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引用次数: 0
Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature. 5q相关性脊髓性肌萎缩症1型患儿的认知障碍:两份病例报告和文献综述。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-27 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1407341
Hua Yang, Jie Yang, Yawen Xue, Lihui Liao, Qianyun Cai, Rong Luo

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5, leading to the degeneration of lower motor neurons. There are few studies on cognitive impairment comorbid with SMA. Here, we report two cases of severe cognitive impairment in Chinese children with SMA type 1, marking the first such reports in this demographic. We propose that severe cognitive dysfunction may be a comorbidity of SMA. Clinicians should consider SMA in patients presenting with severe muscle weakness and atrophy accompanied by cognitive impairments, to avoid misdiagnosis and oversight.

脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传病,由 5 号染色体上的存活运动神经元 1(SMN1)基因突变引起,导致下运动神经元变性。有关 SMA 合并认知障碍的研究很少。在此,我们报告了两例中国 1 型 SMA 患儿的严重认知障碍,这在该人群中尚属首次。我们认为,严重的认知功能障碍可能是 SMA 的合并症之一。临床医生应在患者出现重症肌无力和肌萎缩并伴有认知障碍时考虑 SMA,以避免误诊和漏诊。
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引用次数: 0
The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review. COQ4基因突变新生儿的临床表现谱系:病例系列和文献综述。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-27 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1410133
Pianpian Pan, Na Zhou, Yi Sun, Zhengrong Chen, Jin Han, Wei Zhou

Background: Coenzyme Q10 (CoQ10) plays an important role in the electron transport chain within the human mitochondrial respiratory chain. The manifestations of this deficiency exhibit a diverse range. This study investigates the clinical manifestations of primary coenzyme Q10 deficiency in neonates with the COQ4 mutation to improve the diagnosis of the disease and the prognosis through targeted treatment.

Methods: We report 4 patients with primary coenzyme Q10 deficiency by COQ4 variants in neonates. A comprehensive literature search and review for original articles and case reports with COQ4 mutation published from January 1989 to November 2023 was performed through Pubmed. We review clinical manifestations, diagnostic approaches, and treatment monitoring in these and 20 previously reported patients.

Results: Within the cohort of four cases examined, three females and one male were identified from two distinct families. Specifically, case 1 and 2 consisted of monoamniotic twins. Cases 3 and 4 were siblings. A comprehensive review of 20 cases involving neonatal-onset COQ4 mutation was conducted. Half of the cases are Chinese. There was no statistically significant difference in the mortality between Chinese (9/12, 75%) and other regions (11/12, 91.7%) (P = 0.27). The survival time for the 24 cases was 60.0 ± 98.0 days (95% confidence interval CI: 0-252.0 days). The incidence of prenatal abnormalities in preterm infants was significantly higher than that in full-term infants (66.7% vs. 16.7%, P = 0.02). Hyperlactatemia was one of the most common manifestations, accounting for 75% of cases (18/24). Twenty of the 24 cases were diagnosed by whole exome sequencing. Only 9 patients received exogenous coenzyme Q10 treatment, and all the 4 surviving patients received coenzyme Q10 supplementation.

Conclusion: The prognosis of COQ4 mutation in the neonatal period indicates a low survival rate and an poor prognosis. This may be due to the incomplete understanding of the mechanism of how COQ4 gene defects lead to coenzyme Q10 deficiency and why CoQ10 supplementation does not respond well to treatment. To improve the diagnostic rate, in addition to genetic testing, mitochondrial functional verification should be prioritized in southern China, where the incidence is relatively high. It will facilitate more in-depth mechanistic studies.

背景:辅酶 Q10(CoQ10)在人体线粒体呼吸链的电子传递链中发挥着重要作用。辅酶 Q10 缺乏症的表现多种多样。本研究调查了 COQ4 基因突变的新生儿原发性辅酶 Q10 缺乏症的临床表现,以通过针对性治疗改善疾病的诊断和预后:方法:我们报告了4例因COQ4变异导致的新生儿原发性辅酶Q10缺乏症患者。我们通过Pubmed对1989年1月至2023年11月期间发表的有关COQ4变异的原创文章和病例报告进行了全面的文献检索和综述。我们回顾了这些患者和之前报道的 20 例患者的临床表现、诊断方法和治疗监测情况:在接受研究的 4 例患者中,有 3 名女性和 1 名男性来自两个不同的家族。具体来说,病例 1 和 2 是单羊膜双胞胎。病例 3 和 4 是兄弟姐妹。研究人员对20例涉及新生儿COQ4突变的病例进行了全面回顾。其中一半病例为中国人。中国(9/12,75%)和其他地区(11/12,91.7%)的死亡率无统计学差异(P = 0.27)。24 个病例的存活时间为 60.0 ± 98.0 天(95% 置信区间 CI:0-252.0 天)。早产儿产前异常的发生率明显高于足月儿(66.7% 对 16.7%,P = 0.02)。高泌乳素血症是最常见的表现之一,占 75% 的病例(18/24)。24 例中有 20 例是通过全外显子组测序确诊的。只有9名患者接受了外源性辅酶Q10治疗,所有4名存活患者都接受了辅酶Q10补充剂治疗:结论:新生儿期COQ4基因突变的存活率较低,预后较差。这可能是由于对 COQ4 基因缺陷如何导致辅酶 Q10 缺乏的机制以及补充辅酶 Q10 治疗效果不佳的原因了解不全面。为了提高诊断率,在发病率相对较高的华南地区,除了基因检测,线粒体功能验证也应优先考虑。这将有助于进行更深入的机理研究。
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引用次数: 0
The prevalence of developmental coordination disorder in children: a systematic review and meta-analysis. 儿童发育协调障碍的患病率:系统回顾和荟萃分析。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-26 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1387406
Huaqiang Li, Xiaohua Ke, Dunbing Huang, Xiaqing Xu, Huan Tian, Jiaxin Gao, Cai Jiang, Wei Song

Purpose: The aim of the study was to synthesize previous evidence and clarify the prevalence of developmental coordination disorder (DCD) in children by meta-analysis.

Methods: A comprehensive computerized search of databases, including PubMed, Embase, Web of Science, The Cochrane Library, CINAHL, and PsycINFO databases, was conducted to identify relevant national and international articles published before 18 December 2023 on DCD prevalence in children. The meta-analysis of prevalence was conducted using Stata 18.0.

Results: A total of 18 papers involving 31,203 patients were included. The prevalence of children with DCD was found to be 5%. A subgroup analysis showed that prevalence was 7% [95% confidence interval (CI) 4%-10%] and 4% (95% CI 3%-7%) for boys and girls, respectively; 4% (95% CI 2%-8%), 2% (95% CI 2%-2%), and 6% (95% CI 3%-10%) in Asia, Europe, and North America, respectively; and 18% (95% CI 8%-31%) and 6% (95% CI 4%-7%) for preterm (<37 weeks) and term infants (≥37 weeks), respectively. The prevalence of very low birth weight children (<1,250 g) with DCD was found to be 31%.

Conclusion: In this study, we found that the prevalence of children with DCD in the general population was 5% and that preterm infants (<37 weeks) and very low birth weight infants (<1,250 g) have a higher prevalence of DCD and require early screening and regular follow-up.

Systematic review registration: https://www.crd.york.ac.uk/, Identifier (CRD42024503320).

目的:本研究旨在通过荟萃分析综合以往的证据并明确儿童发育协调障碍(DCD)的患病率:方法:对PubMed、Embase、Web of Science、The Cochrane Library、CINAHL和PsycINFO等数据库进行了全面的计算机检索,以确定2023年12月18日之前发表的关于儿童发育协调障碍患病率的国内外相关文章。使用Stata 18.0对患病率进行了荟萃分析:结果:共纳入 18 篇论文,涉及 31 203 名患者。结果发现,儿童 DCD 患病率为 5%。亚组分析显示,男孩和女孩的患病率分别为 7% [95% 置信区间 (CI) 4%-10%] 和 4% (95% CI 3%-7%) ;亚洲、欧洲和北美的患病率分别为 4% (95% CI 2%-8%) 、2% (95% CI 2%-2%) 和 6% (95% CI 3%-10%) ;早产儿的患病率分别为 18% (95% CI 8%-31%) 和 6% (95% CI 4%-7%) :在这项研究中,我们发现普通人群中患有 DCD 的儿童发病率为 5%,而早产儿(系统综述注册:https://www.crd.york.ac.uk/,标识符 (CRD42024503320)。
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引用次数: 0
Identifying and quantifying initial post-discharge needs for clinical review of sick, newborns in Kenya based on a large multi-site, retrospective cohort study. 基于一项大型多站点回顾性队列研究,确定并量化肯尼亚患病新生儿出院后临床复查的初始需求。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-26 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1374629
John Wainaina, Esther Lee, Grace Irimu, Jalemba Aluvaala, Mike English

Background: Progress in neonatal care has resulted in a 51% decrease in global neonatal mortality rates from 1990 to 2017. Enhanced survival will put pressure on health care systems to provide appropriate post-discharge, follow-up care but the scale of need for such care is poorly defined.

Methods: We conducted a retrospective cohort study of newborns discharged from 23 public hospital neonatal units (NBUs) in Kenya between January 2018 and June 2023 to identify initial follow-up needs. We first determined pragmatic follow-up categories based on survivors' clinical conditions and morbidities. We then used individual phenotypes of individual babies to assign them to needing one or more forms of specialized clinical follow-up. We use descriptive statistics to estimate proportions of those with specific needs and patterns of need.

Findings: Among 136,249/159,792 (85.3%) neonates discharged, around one-third (33%) were low birth weight (<2,500 g), and a similar 33.4% were preterm (<37 weeks). We estimated 131,351 initial episodes of follow-up would be needed across nine distinct follow-up categories: general pediatrics, nutrition, growth & development (40.4%), auditory screening (38.8%), ophthalmology for retinopathy of prematurity (9.6%), neurology (8.0%), occupational therapy (1.3%), specialized nutrition (0.9%), surgery (0.8%), cardiology (0.2%), and pulmonary (<0.1%). Most neonates met the criteria for two (52.3%, 28,733), followed by three (39.6%, 21,738) and one follow-up episodes (5.6%, 3,098). In addition to prematurity and very low birth weight (≤1,500 g), severe infections with extended gentamicin treatment, severe jaundice managed with phototherapy, and hypoxic-ischemic encephalopathy (HIE) contributed substantially to the pattern of need for post-discharge follow-up.

Conclusions: Almost half of surviving NBU infants have multiple specialty post-discharge follow-up needs. More urgent attention needs to be focused on healthcare planning now to guide strategies to address the varied medical and developmental needs that we outline in resource-constrained contexts like Kenya.

背景:新生儿护理的进步使得全球新生儿死亡率从 1990 年到 2017 年下降了 51%。存活率的提高将给医疗保健系统带来压力,要求其提供适当的出院后随访护理,但此类护理的需求规模尚不明确:我们对 2018 年 1 月至 2023 年 6 月间从肯尼亚 23 家公立医院新生儿科(NBU)出院的新生儿进行了一项回顾性队列研究,以确定最初的随访需求。我们首先根据幸存者的临床情况和发病率确定了实用的随访类别。然后,我们利用单个婴儿的个体表型将其归类为需要一种或多种形式的专业临床随访。我们使用描述性统计来估算有特定需求者的比例和需求模式:在 136,249/159,792 名(85.3%)出院新生儿中,约三分之一(33%)为低出生体重儿:近一半存活的新生儿在出院后需要多种专科随访。现在需要更加迫切地关注医疗保健规划,以指导相关策略,满足我们在肯尼亚这样资源有限的国家概述的各种医疗和发育需求。
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引用次数: 0
Case Report: MDFIC gene mutation resulting in central conducting lymphatic anomaly facilitates group A Streptococcus sepsis. 病例报告:MDFIC 基因突变导致中央传导淋巴异常,从而引发 A 群链球菌败血症。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-25 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1367532
Johannes Weidner, Kai Fiedler, Mechthild Schulze-Becking, Christiaan Peter Sentner, Christoph Korenke, Axel Heep

Background: Central conducting lymphatic anomaly (CCLA) is a heterogeneous disorder characterized by structural anomalies in the main collecting lymphatic vasculature. These anomalies result in chronic chylous leaks, causing issues such as congenital hydrothorax and potentially impairing the normal immune response. Recently, mutations in the MyoD family inhibitor domain-containing (MDFIC) gene have been identified as a cause of CCLA. Group A Streptococcus infections are common, and timely identification of patients at risk for severe complications is crucial.

Case presentation: Here, we present the case of a 13-year-old female patient with CCLA associated with an MDFIC mutation, who suffered from a severe group A Streptococcus sepsis. Initially, the patient was unresponsive to aggressive fluid resuscitation. Although the course of the sepsis was severe, standardized treatment according to the surviving sepsis campaign proved effective in stabilizing the patient.

Discussion: The patient's MDFIC mutation may have contributed to the severe clinical course of the sepsis. It is theorized that this mutation affects the function of the immune system both indirectly, by causing CCLA, and directly, by potentially influencing transcriptional activity in immune cells. More research on the effect of MDFIC mutations on immune responses is required.

背景:中央传导淋巴管异常(CCLA)是一种异质性疾病,其特征是主要收集淋巴管的结构异常。这些异常会导致慢性乳糜泻,引起先天性胸水等问题,并可能损害正常的免疫反应。最近,含 MyoD 家族抑制剂结构域(MDFIC)基因的突变被确定为 CCLA 的病因之一。A 组链球菌感染很常见,及时发现有严重并发症风险的患者至关重要:在此,我们介绍了一例与 MDFIC 基因突变相关的 13 岁女性 CCLA 患者,她患有严重的 A 组链球菌败血症。起初,患者对积极的液体复苏反应迟钝。虽然败血症的过程很严重,但根据败血症存活运动进行的标准化治疗证明有效地稳定了患者的病情:讨论:患者的 MDFIC 基因突变可能是导致败血症临床症状严重的原因之一。据推测,这种突变会间接影响免疫系统的功能,导致 CCLA,也会直接影响免疫细胞的转录活性。关于 MDFIC 基因突变对免疫反应的影响还需要更多的研究。
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引用次数: 0
The use of a simple and affordable skin patch for measurement of transcutaneous bilirubin levels in neonates during phototherapy. 在光疗过程中使用简单、经济的皮肤贴片测量新生儿经皮胆红素水平。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-09-25 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1434770
Aditya Kallimath, Suprabha Patnaik, Pradeep Suryawanshi, Rupeshkumar Deshmukh, Nandini Malshe

Background: Transcutaneous bilirubin (TcB) measurements during and after phototherapy for hyperbilirubinemia must be performed on unexposed skin. There are commercially made skin patches for this purpose, but they are relatively unavailable in low-resource settings. We devised a simple cotton patch and tested its use for TcB during phototherapy.

Methods: Measurements were taken in healthy neonates born at a gestational age of ≥35 weeks who were undergoing phototherapy for hyperbilirubinemia in western India before, 12 h after the start, and 12 h after the end of phototherapy. Total serum bilirubin (TSB) was measured using the diazo method in a clinical laboratory. TcB measurements were performed using a Dräger Jaundice Meter JM-105 placed over the sternum on two skin areas that were protected during and after treatment by a commercial (Philips BilEclipse) or self-made patch comprised of cotton gauze and wool.

Results: In total, 47 neonates were included in our study. Before phototherapy, TSB and TcB values had a strong correlation (Pearson, r = 0.88), with a mean difference of -1.35 mg/dl. Correlations with TSB were good and equivalent for TcB values measured on skin covered by the commercial and self-made patches during (0.78 and 0.70, respectively) and after (0.57 and 0.58, respectively) phototherapy. TcB values measured on skin covered by the two patches correlated well both during and after phototherapy, with r = 0.82 and 0.90, respectively, and mean (95% confidence interval) differences of -1.21 and -0.32 mg/dl, respectively.

Conclusions: Reliable TcB measurements taken during and after phototherapy can be achieved on skin covered with a simple and affordable cotton skin patch.

背景:在光疗治疗高胆红素血症期间和之后,必须在未暴露的皮肤上进行经皮胆红素(TcB)测量。市面上有用于此目的的皮肤贴片,但在资源匮乏的环境中相对缺乏。我们设计了一种简单的棉质贴片,并测试了其在光疗期间对 TcB 的使用情况:方法:在光疗开始前、开始后 12 小时和结束后 12 小时,对印度西部胎龄≥35 周、因高胆红素血症接受光疗的健康新生儿进行测量。血清总胆红素(TSB)是在临床实验室用重氮法测定的。使用德尔格 Jaundice Meter JM-105 测量 TcB,该仪器置于胸骨上的两个皮肤区域,在治疗期间和治疗后,这两个皮肤区域由商用(飞利浦 BilEclipse)或自制的由棉纱和羊毛组成的贴片保护:共有 47 名新生儿参与了研究。光疗前,TSB 和 TcB 值有很强的相关性(Pearson,r = 0.88),平均差为-1.35 mg/dl。在光疗期间(分别为 0.78 和 0.70)和光疗之后(分别为 0.57 和 0.58),在商品贴片和自制贴片覆盖的皮肤上测量的 TcB 值与 TSB 的相关性良好且相当。在光疗期间和光疗后,在两种贴片覆盖的皮肤上测量的 TcB 值相关性良好,r 分别为 0.82 和 0.90,平均值(95% 置信区间)分别为-1.21 和-0.32 mg/dl:结论:在光疗期间和光疗后,使用简单、经济的棉质皮肤贴片可对皮肤进行可靠的 TcB 测量。
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Frontiers in Pediatrics
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