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中华实用儿科临床杂志
中华实用儿科临床杂志

郭学鹏

半月刊

2095-428X

syqk@xxmu.edu.cn

0373-3029144，3831456

453003

河南省新乡市新乡医学院

中华实用儿科临床杂志/Journal Journal of Applied Clinical PediatricsCSCD北大核心CSTPCD
查看更多>>本刊创刊20年来，严格遵守国家的出版法规及条例，执行出版编辑规范，始终坚持突出实用为主，理论联系实践，注重基础与临床相结合，报道儿科领域新的科研成果、新理论、新技术、新进展，为促进我国儿科医学领域的学术交流服务为办刊宗旨。2005年本刊的总被引频次1417，在18种妇、儿科医学类期刊中列第4位，在1606种中国科技论文统计源期刊中列第79位；影响因子0.659，在18种妇、儿科医学类期刊中列第6位，在1606种中国科技论文统计源期刊中列第221位；即年指标0.155,在8种儿科学类期刊中仅次于《中华儿科杂志》，位居第2位，其他学术期刊指标均较去年明显提高。目前已连续四次进入北京大学图书馆主编的《中文核心期刊要目总览》、列入中国科技论文统计源期刊（中国科技核心期刊），2003年被俄罗斯《文摘杂志》收录,2005年又被美国《化学文摘》收录。2004年被评为河南省优秀期刊。我刊已被中国生物医学文献数据库（CBMdisc）、Quick全文资料管理系统（FTME）、中文科技期刊数据库、中国学术期刊（光盘版）、万方数据库和美国《化学文摘》、俄罗斯《文摘杂志》、《中国医学文摘：儿科学分册》等多种权威性数据库与文摘期刊作为固定收录对象。
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    HINT1基因变异致常染色体隐性遗传轴索型神经病伴神经性肌强直藏族家系及文献复习

    茹喜芳赵蓉范燕彬王爽...
    128-133页
    查看更多>>摘要：目的 分析HINT1基因变异致常染色体隐性遗传轴索型神经病伴神经性肌强直(ARAN-NM)的特点。 方法 回顾性病例总结。分析2023年8月在北京大学第一医院儿科确诊为ARAN-NM的2例藏族兄妹的临床资料。检索各个数据库收录的相关中国病例的文献并进行分析。 结果 先证者及其兄分别为13岁和19岁，均于11岁出现步态异常，其后出现足内翻及跛行、拇指力弱，先证者合并神经性肌强直。查体先证者及其兄均四肢肌力下降，拇指和下肢远端为著，先证者下肢远端肌肉萎缩，先证者兄双手肌肉萎缩，二人双足均马蹄内翻畸形。先证者肌电图(EMG)检查示周围神经病损(运动和感觉纤维轴索受累，远端受累为重)和肌强直电位。家系全外显子组测序检测到二人HINT1基因纯合致病性变异[c。169A>G(p。K57E)]，确诊ARAN-NM。先证者口服卡马西平后神经性肌强直症状缓解，麻木、无力症状明显改善。先证者和其兄行骨科手术治疗和康复治疗后足部畸形及步态明显改善。检索到符合条件的中文文献2篇(2例)，英文文献4篇(8例)。加上本例先证者及其兄共12例，10例有临床资料，起病年龄为2～16岁(1例未知)，诊断年龄为13～33岁，9例有肌无力，肌无力以远端为著，8例伴神经性肌强直，9例出现肌肉萎缩，7例合并足畸形，2例合并感觉障碍，9例检测肌酸激酶的患者均有升高，EMG均提示神经源性损伤，6例可见神经性肌强直放电，3例接受卡马西平治疗，部分症状缓解。12例均有遗传学资料，均为错义突变/无义突变，高频变异为c。112T>C(p。C38R)。 结论 ARAN-NM是由HINT1基因变异引起的常染色体隐性遗传性罕见神经肌肉病，临床表现无民族差异，主要为肢体远端无力伴神经性肌强直，卡马西平可缓解部分症状，骨科矫形治疗可改善足部畸形和步态。 Objective To summarize the characteristics of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) caused by HINT1 gene mutation。 Methods Retrospective case summary。Clinical data of 2 Tibetan siblings diagnosed with ARAN-NM in the Department of Pediatrics of Peking University First Hospital in August 2023 were retrospectively analyzed。A review of literature reporting relevant Chinese patients was conducted。 Results The proband and her elder brother were aged 13 and 19， respectively。Both developed abnormal gait at the age of 11， followed by varus， claudication， and weak thumb strength。The proband also had neuromyotonia。Physical examinations showed that the proband and her elder brother had decreased muscle strength of the extremities， mainly in the thumbs and distal ends of lower limbs。The distal muscles of the proband′s lower extremities and the muscles of both hands of the proband′s elder brother were atrophied。Both feet showed talipes equinovarus in the proband and her elder brother。The proband′s electromyography (EMG) showed peripheral nerve injuries (motor and sensory axonal involvement， especially in distal ends) and myotonic potentials。The trio-whole exon sequencing detected homozygous pathogenic variation in HINT1 gene in both the proband and her elder brother， who were diagnosed as ARAN-NM based on c。 169A>G (p。K57E)。 After the Carbamazepine treatment， the proband′s neuromyotonia， numbness and weakness were relieved。Both the proband and her elder brother underwent orthopaedic surgery and rehabilitation。Their foot deformities and gait were significantly improved。Two Chinese literatures (2 patients) and four English literatures (8 patients) were retrieved。Including the proband and her elder brother in this study， there were 12 ARAN-NM patients， 10 of whom had clinical data。The ages of onset and diagnosis were 2-16 (1 case unknown) and 13-33 years old， respectively。Myasthenia was present in 9 patients， especially in distal ends。Eight patients were complicated with neuromyotonia， nine patients with muscle atrophy， seven patients with foot deformity， and two patients with sensory disturbance。Creatine kinase(CK) was elevated in all 9 patients tested or CK。EMG showed neurogenic injuries in all patients and neuromyotonia discharge in six patients。Three patients were treated with Carbamazepine， and some symptoms were relieved。Missense/nonsense mutations were found in the 12 patients， and the high-frequency variation was c。 112T>C (p。C38R)。 Conclusions ARAN-NM is a rare autosomal recessive neuromuscular disease caused by HINT1 gene mutation。There is no ethnic difference in clinical manifestations， mainly distal limb weakness with neuromyotonia。Carbamazepine can alleviate some symptoms， and orthopaedic surgery can improve foot deformity and gait。

    腓骨肌萎缩症遗传性周围神经病常染色体隐性遗传轴索型神经病伴神经性肌强直HINT1基因卡马西平骨科矫形外科手术

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    植入式膈肌起搏器在高位颈髓损伤患儿中应用的远期疗效及并发症：病例报告及文献复习

    谢咏祺宫慧明杨德刚陈亮...
    134-137页
    查看更多>>摘要：回顾性研究2022年9月中国康复研究中心脊柱脊髓神经功能重建科收治的1例C2颈髓损伤(CSCI)患儿使用植入式膈肌起搏器(IDP)的远期疗效及并发症。患儿，男，12岁时无明显诱因出现四肢瘫痪，后完全依赖呼吸机通气。14岁在单侧膈肌起搏模式下可完全脱离呼吸机。术后5年因肺炎使用呼吸机数月后，再次使用IDP，自感起搏效果下降。再次入院后评估发现患儿膈肌轻度萎缩，继发扁平胸及轻度脊柱侧弯。经膈肌起搏阈值优化及康复治疗，患者呼吸功能较前好转。提示IDP可在CSCI患儿长期使用，但需考虑扁平胸、脊柱侧弯限制肺部扩张，同时腹部痉挛加重影响腹部顺应性，从而导致膈肌做功效率降低。 The long-term efficacy and complications of implantable diaphragm pacer (IDP) in a child with cervical spinal cord injury (CSCI) in the Department of Spinal and Neural Functional Reconstruction， China Rehabilitation Research Center in September 2022 were retrospective analyzed。A male child had quadriplegia without an obvious cause at the age of 12 years， and he was then lived completely with the assistance of mechanical ventilation。At the age of 14 years， he could wean off the ventilator in unilateral diaphragmatic pacing mode。However， mechanical ventilation was re-given for months after 5 years due to pneumonia， and then the IDP was re-given with the self-felt decreased pacing effect。After hospitalization， the patient was examined with mild diaphragmatic atrophy， secondary flat chest， and mild scoliosis。After optimization of the transdiaphragmatic pacing threshold and rehabilitation， his respiratory function improved。IDP can be used in CSCI for long time， while flat chest and scoliosis that limited the expansion of the lungs should be considered。At the meantime， the increased abdominal spasm affected the abdominal compliance， leading to the decrease in the efficiency of the diaphragm。

    儿童颈髓损伤植入式膈肌起搏器并发症

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    儿童 KMT2A重排急性淋巴细胞白血病研究进展

    张永湛尚倩雯陆爱东张乐萍...
    138-141页
    查看更多>>摘要：赖氨酸甲基转移酶2A(KMT2A)基因重排(KMT2A-r)是儿童急性淋巴细胞白血病(ALL)的一种高危基因亚型，复发率高，预后不良，使用传统化疗的疗效欠佳，改善儿童KMT2A-r ALL的治疗和预后仍是亟待解决的问题。近年来，随着人们对KMT2A-r机制的深入了解，将KMT2A-r ALL进行了更准确的风险分层，同时在免疫和靶向治疗方面也有了长足的进步。现就儿童KMT2A-r ALL的遗传和生物学特征、风险分层、治疗策略及预后进行综述，以期为临床工作和未来研究提供理论支持。 Lysine methyltransferase 2A(KMT2A) rearrangement (KMT2A-r) is a high-risk gene subtype of acute lymphoblastic leukemia (ALL) in children with a high relapse rate， poor prognosis and suboptimal response to conventional chemotherapy。Improving the treatment and prognosis of childhood KMT2A-r ALL is an urgent problem。In recent years， with an in-depth understanding of the mechanism of KMT2A-r， more accurate risk stratification of KMT2A-r ALL has been carried out， and great progress has also been made in its immune and targeted therapy。In this article， the genetic and biological characteristics， risk stratification， treatment strategies and prognosis of children KMT2A-r ALL were reviewed in order to provide theoretical support for clinical work and future research。

    急性淋巴细胞白血病KMT2A基因重排儿童研究进展

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    儿童过敏性肺炎的诊治及研究进展

    李艳妮徐勇胜董汉权廉珍珍...
    142-146页
    查看更多>>摘要：过敏性肺炎(HP)是一种免疫介导的间质性肺疾病，临床表现、严重程度及疾病转归具有高度异质性，与个体敏感性、接触抗原的性质、剂量、持续时间及接触频率均有关。2020年新制定的成人HP指南对其进行了重新分类，并详细描述了其影像学特征。HP常发生在成人，但也可影响儿科人群，且是常见的儿童间质性肺疾病之一。在儿童中，引起HP的最常见因素为家庭环境中的禽类和真菌抗原。HP的诊断主要基于明确的暴露抗原、典型的症状、特征性放射学表现，血清特异性抗体IgG、支气管肺泡灌洗液及肺功能检查可帮助明确诊断HP，对于诊断仍不明的患儿需行肺组织病理检查。早期诊断并充分避免抗原暴露是治疗及预后的关键。 Hypersensitivity pneumonitis (HP) is an immune-mediated interstitial lung disease (ILD)。 It is a disease with highly heterogeneous clinical manifestations， severity and outcomes， which are associated with individual sensitivity， as well as property， dosage， duration and frequency of exposure to the antigens。The 2020 adult HP guideline reclassifies it and describes its radiographic features in detail。HP often occurs in adults， also affects the pediatric population and is one of the most common ILDs in children。The most common factors causing HP in children are avian and fungal antigens in the home environment。The diagnosis of HP is based on clear antigens， typical symptoms and characteristic radiological manifestations。The serum-specific IgG antibody， bronchoalveolar lavage fluid， and pulmonary function tests can help diagnose HP clearly， and lung histopathology is required for children whose diagnosis cannot be confirmed。Early diagnosis and adequate avoidance of antigen exposure are the keys to its treatment and prognosis。

    过敏性肺炎间质性肺疾病纤维化型非纤维化型儿童

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    2型炎症性疾病：2型固有淋巴样细胞-树突状细胞-2型辅助性T细胞的新模式及靶向药物治疗进展

    王萍萍丁圣刚廉珍珍
    146-150页
    查看更多>>摘要：近年来，2型固有淋巴样细胞(ILC2)的发现拓展了人们对2型免疫的理解，推动了2型炎症概念的诞生。2型炎症是固有免疫和适应性免疫共同介导的炎症反应，主要由ILC2和2型辅助性T细胞参与，其特征为2型细胞因子的上调及IgE介导的炎症介质释放和屏障功能障碍。由于2型炎症这一共同内在机制，患者常出现2型炎症性疾病共存的情况，且其在儿童和青少年中的患病率和严重程度持续上升，给患儿及其家庭带来沉重负担。现总结近年来对2型免疫反应机制认知的拓展及对2型炎症性疾病病理生理机制的新认识，强调ILC2在其中发挥的重要作用，并对部分用于治疗2型炎症的靶向生物制剂进行概括，从而对2型炎症有更系统、全面、深入的了解。 In recent years， the discovery of Group 2 innate lymphoid cells(ILC2) has expanded the understanding of type 2 immunity and promoted the birth of the concept of type 2 inflammation。Type 2 inflammation is an inflammatory reaction mediated by both innate and adaptive immunity。It is mainly involved by ILC2 cells and T helper 2 cells and is characterized by upregulation of type 2 cytokines and IgE-mediated release of inflammatory mediators and barrier dysfunction。Due to the common intrinsic mechanism， several kinds of type 2 inflammatory diseases always coexist in the same person， and their prevalence rate and severity continue to rise among children and adolescents， placing a heavy burden on them and their families。This review summarizes the recent development in understanding the mechanism of type 2 immune response and the pathophysiological mechanism of type 2 inflammatory diseases， emphasize the importance of ILC2 and summarize some targeted biologics used in the treatment of related diseases， so as to have a more systematic， comprehensive and in-depth understanding of type 2 inflammation。

    2型免疫2型炎症2型辅助性T细胞2型固有淋巴样细胞靶向治疗

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    人工智能的影像学分析技术在儿童感染性肺炎中的研究进展

    陶赟熙葛许华臧赫
    151-155页
    查看更多>>摘要：儿童支气管管腔相对狭窄、肺部间质发育优于弹性组织、纤毛清除能力弱的生理结构使儿童更易发生肺部感染形成肺炎。人工智能(AI)的发展及其在医学领域的应用正在改变传统的疾病诊断、评估及治疗模式。以深度学习为核心的AI越来越多应用于儿童肺炎的诊断以及病情预后评估，有利于对患儿进行早期诊断、准确评估病情。除新型冠状病毒肺炎与急性呼吸窘迫综合征外，研究者很少关注其他病毒性肺炎、细菌性肺炎、支原体肺炎、真菌性肺炎，同时目前仍存在数据集少、样本量少、算法不完备等问题，且对于区分肺炎类型、亚型给予的关注度不够，有待改进。未来应建立儿童肺部感染的大样本数据集，开展医学生、医务人员对AI的学习，探索AI在儿童肺部感染中的更多价值，以推动其在诊疗相关临床决策时的辅助作用。 Children′s bronchial lumen is relatively narrow， pulmonary interstitial development is superior to elastic tissue， and ciliary clearance is weak， which makes children more prone to pulmonary infection and pneumonia。The development of artificial intelligence (AI) and its application in medicine is changing the traditional disease diagnosis， assessment and treatment。AI with deep learning as the core is increasingly used in the diagnosis and prognosis evaluation of pneumonia in children， which is conducive to the early diagnosis and accurate assessment of the disease。In addition to novel coronavirus pneumonia and acute respiratory distress syndrome， researchers rarely pay attention to other viral pneumonia， bacterial pneumonia， mycoplasmal pneumonia， and fungal pneumonia。Meanwhile， there are still problems， such as small datasets， small sample sizes， incomplete algorithms， and little attention paid to pneumonia types and subtypes。In the future， a large-sample dataset of children′s pulmonary infections should be established， and learning about AI should be promoted among medical students and medical staff， so as to explore the value of AI in children′s pulmonary infection and play its auxiliary role in clinical decision-making related to diagnosis and treatment。

    儿童肺炎人工智能影像分析深度学习

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    无创性影像学评估骨龄研究进展

    朱晓娜张伟单卫华
    156-160页
    查看更多>>摘要：骨龄能够较客观地反映儿童及青少年生长发育水平，还可以预测生长潜力，在临床医学、法医学、体育学等领域具有重要作用。手腕部及锁骨胸骨端是骨龄评估最常用的部位。骨龄的成像不仅有X线平片，还有超声、CT及磁共振成像。骨龄的评估方法由传统人工到自动化评估，准确性及效率不断提高。现主要对手腕部及锁骨胸骨端骨龄评估的技术及方法研究进展进行综述。 Bone age is an important index objectively reflecting the growth and development level of children and adolescents， as well as predicting growth potential。It plays a key role in various complicated situations involving clinical medicine， forensic and sports science。The wrist and the extremitas sternalis of clavicle are the most common sites for bone age assessment。Several techniques are available to evaluate bone age， including X-ray plain radiography， ultrasound， CT and magnetic resonance imaging。The accuracy and efficiency of bone age assessment have been continuously improved from traditional manual assessment to automatic assessment。This paper mainly reviews the advances in the techniques and methods for bone age assessment of the wrist and the extremitas sternalis of clavicle。

    骨龄手锁骨技术方法

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