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Genetic counseling, prenatal diagnosis and newborn screening in Duchenne muscular dystrophy 杜氏肌营养不良症的遗传咨询、产前诊断和新生儿筛查
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1016/S0929-693X(25)00256-8
France Leturcq , Camille Verebi , Juliette Nectoux
Genetic counseling is a communication process in which qualified professionals help individuals to understand and consider the medical, psychosocial, and family implications of a disease. In the case of Duchenne muscular dystrophy (DMD), a severe and progressive muscle-wasting X-linked disease, genetic counseling can help to diagnose female carriers, assess the risks for offspring, and discuss the various possibilities for having an unaffected son. Invasive prenatal diagnosis is usually offered to at-risk couples, but preimplantation diagnosis is also an option. Noninvasive diagnosis, based on the presence of fetal DNA in maternal blood, is developing rapidly and will further reduce the emotional and logistical burden associated with invasive approaches. Finally, various programs around the world are focusing on newborn screening for DMD, enabling children at risk of developing the most commonand severe form of childhood muscular dystrophy to be screened at birth.
遗传咨询是一个沟通的过程,在这个过程中,合格的专业人员帮助个人了解和考虑疾病的医学、社会心理和家庭影响。杜氏肌营养不良症(DMD)是一种严重的进行性肌肉萎缩x连锁疾病,遗传咨询可以帮助诊断女性携带者,评估后代的风险,并讨论有一个不受影响的儿子的各种可能性。侵入性产前诊断通常提供给有风险的夫妇,但植入前诊断也是一种选择。基于母体血液中胎儿DNA的非侵入性诊断正在迅速发展,并将进一步减少与侵入性方法相关的情感和后勤负担。最后,世界各地的各种项目都在关注DMD的新生儿筛查,使有可能患上最常见和最严重的儿童肌肉萎缩症的儿童在出生时就能得到筛查。
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引用次数: 0
Other innovative therapies in Duchenne muscular dystrophy 杜氏肌营养不良症的其他创新疗法
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1016/S0929-693X(25)00255-6
Helge Amthor
Over the past three decades, new therapeutic strategies have been developed to treat Duchenne muscular dystrophy (DMD). These strategies aim to correct the primary genetic defect, compensate for secondary pathological changes resulting from muscular dystrophy, or stimulate skeletal muscle growth and regeneration to overcome muscle wasting. This article discusses three concepts currently being tested on patients with DMD: strategies for restoring dystrophin, next-generation pharmacological agents, and cell therapy.
在过去的三十年里,新的治疗策略已经发展到治疗杜氏肌营养不良症(DMD)。这些策略旨在纠正原发性遗传缺陷,补偿由肌肉萎缩症引起的继发性病理变化,或刺激骨骼肌生长和再生以克服肌肉萎缩。本文讨论了目前在DMD患者身上测试的三个概念:恢复肌营养不良蛋白的策略,下一代药物和细胞治疗。
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引用次数: 0
Cardiac care in Duchenne muscular dystrophy 杜氏肌营养不良症的心脏护理
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1016/S0929-693X(25)00249-0
Karim Wahbi
Duchenne muscular dystrophy (DMD) encompasses early skeletal muscle involvement with myocardial disease characterized by progressive fibrosis and the gradual development of dilated cardiomyopathy, which become almost universal in adulthood and may lead to heart failure. These symptoms, together with respiratory failure, represent a major cause of morbidity and mortality. A structured management pathway is therefore essential: electrocardiography (ECG) and echocardiography at diagnosis and annually thereafter, with increasing use of cardiac magnetic resonance imaging (CMR) to detect early fibrosis (late gadolinium enhancement) and blood biomarkers of heart failure such as B-type natriuretic peptide (BNP) or NT-proBNP. Clinical recognition of heart failure is often delayed and tends to occur at advanced stages; similarly, atrial and ventricular arrhythmias can arise, generally later in the course of the disease. Treatment is based primarily on prevention by the early initiation of heart failure medications: an angiotensin-converting enzyme (ACE) inhibitor no later than age 10 years; a mineralocorticoid receptor antagonist when CMR shows fibrosis; and a beta-blocker in cases of symptomatic tachycardia. Corticosteroids started early for skeletal and respiratory muscles also appear to delay cardiomyopathy in a preventive setting. Curative treatment, for patients with a left ventricular ejection fraction of <50%, should follow international heart failure guidelines with quadruple therapy and the fastest feasible up-titration. Mechanical circulatory support may be discussed on a case-by-case basis. Innovative therapies, notably microdystrophin gene therapy, can be complicated by myocarditis or early direct myocardial injury, necessitating specific cardio-immunology follow-up.
杜氏肌营养不良症(DMD)包括早期骨骼肌累及心肌疾病,其特征是进行性纤维化和逐渐发展为扩张型心肌病,这在成年期几乎普遍存在,并可能导致心力衰竭。这些症状与呼吸衰竭一起是发病率和死亡率的主要原因。因此,一个结构化的管理途径是必不可少的:诊断时的心电图(ECG)和超声心动图以及此后每年的超声心动图,越来越多地使用心脏磁共振成像(CMR)来检测早期纤维化(晚期钆增强)和心力衰竭的血液生物标志物,如b型利钠肽(BNP)或NT-proBNP。心衰的临床识别往往延迟,往往发生在晚期;同样,房性和室性心律失常也可出现,通常在病程的后期出现。治疗主要是通过早期开始使用心力衰竭药物来预防:不迟于10岁的血管紧张素转换酶(ACE)抑制剂;CMR显示纤维化时使用矿皮质激素受体拮抗剂;在症状性心动过速的情况下使用-受体阻滞剂。早期使用皮质类固醇治疗骨骼肌和呼吸肌也可以延缓心肌病的发生。对于左心室射血分数为50%的患者,治疗应遵循国际心力衰竭指南,采用四联治疗和最快可行的升滴定。机械循环支持可以根据具体情况进行讨论。创新疗法,特别是微肌营养不良蛋白基因疗法,可能并发心肌炎或早期直接心肌损伤,需要特异性的心脏免疫学随访。
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引用次数: 0
Complementary reflection on the paradigm shift in the care of children with genital development variations: definition of variation. 对生殖发育变异儿童护理范式转变的补充反思:变异的定义。
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-11-25 DOI: 10.1016/j.arcped.2025.10.001
Rémi Besson, Arthur Lauriot Dit Prévost
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引用次数: 0
Drainage of bacterial pleuropneumonia in children: A 13-year retrospective monocentric study. 儿童细菌性胸膜肺炎的引流:一项13年回顾性单中心研究。
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-11-24 DOI: 10.1016/j.arcped.2025.10.002
Apolline Furgier, Marion Caseris, Remadji Fiona Kossadoum, Audrey Baron, Arnaud Bonnard, Jérôme Naudin, Nina Martz, Jessy Zenon, Hosam Dawoud, Chrystele Madre, Maya Husain, Elise Mallart, Naïm Ouldali, Michael Levy, Jeanne Truong

Introduction: There is no consensus on indications and modalities of drainage procedures for bacterial pleuropneumonia in children. This study aimed to analyze the clinical course following drainage procedures and the different techniques used.

Method: This retrospective single-center study included children with drained bacterial pleuropneumonia at a French University Hospital, from January 1, 2011, to December 31, 2023.

Results: Thirty-three children were included, with a median age of 3.3 years. The most frequently identified pathogens were Staphylococcus aureus (n = 13; 39 %), Streptococcus pyogenes (GAS) (n = 9; 27 %), and Streptococcus pneumoniae (n = 5; 15 %). Indications for pleural drainage included respiratory distress (n = 16; 48 %) and persistent/abundant pleural effusion (n = 7; 21 %). 73 % of cases presented mediastinal deviation. Percutaneous drainage was performed for 23 patients (70 %) and surgical drainage for 10 patients (30 %). Drainage cultures were positive in 14/27 cases (52 %) after a median of 3 days (IQR: 1.2-5.5) of antibiotics. After drainage, the median durations of fever, intravenous antibiotics, and hospitalization were 8 (IQR: 4.2-14), 11 (IQR: 8.5-15), and 15.5 days (IQR: 8.7-18.5), respectively. Univariate analysis showed that children with percutaneous drainage had longer post drainage fever (12 vs. 5.3 days, p = 0.01) and ventilation durations (7 vs. 2.25 days, p = 0.02) than those with surgical drainage.

Conclusion: The cohort had severe cases, with percutaneous drainage more commonly used. Positive drainage cultures highlighted the challenges of antibiotic penetration and supported the role of drainage in selected cases. Despite favorable medium-term outcomes, post-drainage recovery was prolonged, with extended durations of hospitalization, persistent fever, and prolonged antibiotic treatment.

儿童细菌性胸膜肺炎引流手术的适应症和方式尚无共识。本研究旨在分析引流手术后的临床过程和使用的不同技术。方法:本回顾性单中心研究纳入2011年1月1日至2023年12月31日在法国大学医院的排血性细菌性胸膜肺炎患儿。结果:纳入33例儿童,中位年龄3.3岁。最常见的病原体是金黄色葡萄球菌(13例;39%)、化脓性链球菌(GAS)(9例;27%)和肺炎链球菌(5例;15%)。胸膜引流的适应症包括呼吸窘迫(16例,48%)和持续/大量胸腔积液(7例,21%)。73%的病例出现纵隔偏曲。经皮引流23例(70%),手术引流10例(30%)。抗生素使用中位数3 d (IQR: 1.2-5.5)后,引流培养阳性14/27例(52%)。引流后发热、静脉注射抗生素、住院时间中位数分别为8天(IQR: 4.2 ~ 14)、11天(IQR: 8.5 ~ 15)、15.5天(IQR: 8.7 ~ 18.5)。单因素分析显示,经皮引流患儿引流后发热时间(12 vs. 5.3天,p = 0.01)和通气时间(7 vs. 2.25天,p = 0.02)均长于手术引流患儿。结论:本组病例严重,经皮穿刺引流更为常见。阳性引流培养强调了抗生素渗透的挑战,并支持引流在选定病例中的作用。尽管中期预后良好,但引流后恢复时间延长,住院时间延长,持续发热,抗生素治疗时间延长。
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引用次数: 0
Retrospective descriptive and analytical study of trends in the clinical and allergenic profiles of atopic children in a Mediterranean Country (1992-2022). 1992-2022年地中海国家特应性儿童临床和过敏原概况趋势的回顾性描述和分析研究
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-11-24 DOI: 10.1016/j.arcped.2025.10.005
Hela Cherif, Ghada Berkaoui, Ferdaous Yangui, Salma Mokaddem, Mohamed Ridha Charfi

Background: Pediatric allergic diseases are a growing global public health concern due to their increasing prevalence and impact on children's quality of life. In Tunisia, the incidence of these conditions has risen markedly, with evolving clinical and allergenic patterns over time.

Aims: This study aims to describe the epidemiological evolution of clinical and allergenic profiles in atopic children in Tunisia over a 30-year period.

Methods: We conducted a retrospective study of children aged 1-16 years who were referred for allergic manifestations to the allergy clinic of the Internal Security Forces Hospital (FSI), La Marsa, and underwent skin prick testing (SPT) between 1992 and 2022. Trends were compared across three decades (D1:1992-2001, D2: 2002-2011, and D3:2012-2022) for the entire cohort and within three age groups (preschool, school-aged, and adolescents.

Results: A total of 4313 children were included (mean age: 7.7 ± 3.5 years; sex ratio: 1.39). A family history of atopy was reported in 58.9 % of cases. Rhinitis (76.4 %) and asthma (63.9 %) were the most common presentations. Multiple allergic manifestations were more frequent than isolated ones (58.8 % vs. 41.1 %). SPTs were positive in 57.4 % of cases; dust mites were the most frequent allergen (66.6 %), followed by animal dander and pollens. Polysensitization was observed in 49.7 % of children, most frequently involving dust mites in combination with other allergens. Over the three decades, there was a marked increase in the prevalence of multiple allergic manifestations (from 51.4 % in D1 to 68.5 % in D3; p < 0.001) and polysensitization among sensitized children (from 35.5 % in D1 to 61.1 % in D3; p < 0.001). The age-stratified analysis revealed that this trend towards complexity begins in early childhood, with the rate of polysensitization in preschoolers (1-5 years) soaring from 27.0 % to 62.0 % (p < 0.001). In adolescents (≥12 years), asthma prevalence remained stable (p = 0.124), while rhinitis, rhinoconjunctivitis, and polysensitization continued to increase significantly.

Conclusion: This study highlights significant changes towards greater frequency and complexity of pediatric allergic diseases over the past 30 years, characterized by a rise in multiple manifestations and polysensitization. These trends, particularly pronounced in preschoolers, suggest an accelerated allergic march, warranting adapted clinical and public health strategies.

背景:儿童过敏性疾病是一个日益增长的全球公共卫生问题,由于其日益增加的患病率和影响儿童的生活质量。在突尼斯,这些疾病的发病率显著上升,随着时间的推移,临床和致敏模式不断演变。目的:本研究旨在描述突尼斯30年来特应性儿童临床和过敏原概况的流行病学演变。方法:我们对1992年至2022年期间因过敏症状转诊至La Marsa国内安全部队医院(FSI)过敏门诊并接受皮肤点刺试验(SPT)的1-16岁儿童进行回顾性研究。对整个队列和三个年龄组(学龄前儿童、学龄儿童和青少年)的三十年(D1:1992-2001年,D2: 2002-2011年和D3:2012-2022年)的趋势进行了比较。结果:共纳入4313例儿童,平均年龄7.7±3.5岁,性别比1.39。58.9%的病例有特应性家族史。鼻炎(76.4%)和哮喘(63.9%)是最常见的表现。多重过敏表现较单纯过敏表现更为常见(58.8%比41.1%)。57.4%的病例spt呈阳性;最常见的过敏原是尘螨(66.6%),其次是动物皮屑和花粉。在49.7%的儿童中观察到多致敏,最常见的是尘螨与其他过敏原的结合。在过去的30年里,多种过敏表现的患病率(从D1组的51.4%增加到D3组的68.5%,p < 0.001)和致敏儿童的多致敏(从D1组的35.5%增加到D3组的61.1%,p < 0.001)显著增加。年龄分层分析显示,这种复杂性趋势始于儿童早期,学龄前儿童(1-5岁)的多致敏率从27.0%飙升至62.0% (p < 0.001)。在青少年(≥12岁)中,哮喘患病率保持稳定(p = 0.124),而鼻炎、鼻结膜炎和多致敏性继续显著增加。结论:本研究突出了过去30年来儿童过敏性疾病的频率和复杂性的显著变化,其特征是多种表现和多致敏性的增加。这些趋势,在学龄前儿童中尤其明显,表明过敏进程加快,需要适应临床和公共卫生策略。
{"title":"Retrospective descriptive and analytical study of trends in the clinical and allergenic profiles of atopic children in a Mediterranean Country (1992-2022).","authors":"Hela Cherif, Ghada Berkaoui, Ferdaous Yangui, Salma Mokaddem, Mohamed Ridha Charfi","doi":"10.1016/j.arcped.2025.10.005","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.10.005","url":null,"abstract":"<p><strong>Background: </strong>Pediatric allergic diseases are a growing global public health concern due to their increasing prevalence and impact on children's quality of life. In Tunisia, the incidence of these conditions has risen markedly, with evolving clinical and allergenic patterns over time.</p><p><strong>Aims: </strong>This study aims to describe the epidemiological evolution of clinical and allergenic profiles in atopic children in Tunisia over a 30-year period.</p><p><strong>Methods: </strong>We conducted a retrospective study of children aged 1-16 years who were referred for allergic manifestations to the allergy clinic of the Internal Security Forces Hospital (FSI), La Marsa, and underwent skin prick testing (SPT) between 1992 and 2022. Trends were compared across three decades (D1:1992-2001, D2: 2002-2011, and D3:2012-2022) for the entire cohort and within three age groups (preschool, school-aged, and adolescents.</p><p><strong>Results: </strong>A total of 4313 children were included (mean age: 7.7 ± 3.5 years; sex ratio: 1.39). A family history of atopy was reported in 58.9 % of cases. Rhinitis (76.4 %) and asthma (63.9 %) were the most common presentations. Multiple allergic manifestations were more frequent than isolated ones (58.8 % vs. 41.1 %). SPTs were positive in 57.4 % of cases; dust mites were the most frequent allergen (66.6 %), followed by animal dander and pollens. Polysensitization was observed in 49.7 % of children, most frequently involving dust mites in combination with other allergens. Over the three decades, there was a marked increase in the prevalence of multiple allergic manifestations (from 51.4 % in D1 to 68.5 % in D3; p < 0.001) and polysensitization among sensitized children (from 35.5 % in D1 to 61.1 % in D3; p < 0.001). The age-stratified analysis revealed that this trend towards complexity begins in early childhood, with the rate of polysensitization in preschoolers (1-5 years) soaring from 27.0 % to 62.0 % (p < 0.001). In adolescents (≥12 years), asthma prevalence remained stable (p = 0.124), while rhinitis, rhinoconjunctivitis, and polysensitization continued to increase significantly.</p><p><strong>Conclusion: </strong>This study highlights significant changes towards greater frequency and complexity of pediatric allergic diseases over the past 30 years, characterized by a rise in multiple manifestations and polysensitization. These trends, particularly pronounced in preschoolers, suggest an accelerated allergic march, warranting adapted clinical and public health strategies.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145607554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlates of depression and anxiety among family caregivers of pediatric patients with cancer in Lebanon. 黎巴嫩儿科癌症患者家庭照顾者抑郁和焦虑的相关性
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-11-24 DOI: 10.1016/j.arcped.2025.10.006
Jhony Baissary, Souheil Hallit, Melyssa Assaf, Feten Fekih-Romdhane, Mohamad Farhat, Peter Noun

Background: Cancer diagnosis in the child is stressful for the family caregiver and could have a major impact on his/her mental health, including depression and anxiety, especially during the harsh current Lebanese economic crisis. This study aims at evaluating the correlates of depression and anxiety among family caregivers of pediatric cancer patients in Lebanon.

Methods: It is a cross-sectional study, using a convenience sample of 193 caregivers of pediatric patients with cancer. Depression, anxiety, and work fatigue were assessed using the Patient Health Questionnaire-9, Lebanese Anxiety Scale, and 3D-Work Fatigue Inventory respectively.

Results: The results showed that 18.1 % of the participants have moderately severe depression, whereas 22.2 % show severe depression. Moreover, 79.8 % had anxiety. Having a shortage of medications (Beta = 2.38) and more mental work fatigue (Beta = 0.36) were significantly associated with more depression. Higher physical (Beta = 0.32) and mental (Beta = 0.37) work fatigue were significantly associated with more anxiety.

Conclusion: The study results should raise concerns and make physicians in Lebanon aware of the psychological status of the family caregivers and encourage them to provide adequate support. The results underscore the urgent need for advocacy to improve conditions for families and enhance access to care for children with cancer and their families.

背景:儿童的癌症诊断给家庭照顾者带来压力,并可能对他/她的心理健康产生重大影响,包括抑郁和焦虑,特别是在当前黎巴嫩严重的经济危机期间。本研究旨在评估黎巴嫩儿童癌症患者家庭照顾者抑郁与焦虑的相关关系。方法:这是一项横断面研究,使用193名儿科癌症患者护理人员的方便样本。分别使用患者健康问卷-9、黎巴嫩焦虑量表和3d工作疲劳量表评估抑郁、焦虑和工作疲劳。结果:18.1%的参与者表现为中度抑郁症,22.2%的参与者表现为重度抑郁症。此外,79.8%的人有焦虑。缺乏药物(Beta = 2.38)和更多的脑力工作疲劳(Beta = 0.36)与更多的抑郁显著相关。更高的身体(Beta = 0.32)和精神(Beta = 0.37)工作疲劳与更多的焦虑显著相关。结论:研究结果应引起关注,使黎巴嫩的医生了解家庭照顾者的心理状况,并鼓励他们提供足够的支持。研究结果强调,迫切需要进行宣传,以改善家庭条件,增加癌症儿童及其家庭获得护理的机会。
{"title":"Correlates of depression and anxiety among family caregivers of pediatric patients with cancer in Lebanon.","authors":"Jhony Baissary, Souheil Hallit, Melyssa Assaf, Feten Fekih-Romdhane, Mohamad Farhat, Peter Noun","doi":"10.1016/j.arcped.2025.10.006","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.10.006","url":null,"abstract":"<p><strong>Background: </strong>Cancer diagnosis in the child is stressful for the family caregiver and could have a major impact on his/her mental health, including depression and anxiety, especially during the harsh current Lebanese economic crisis. This study aims at evaluating the correlates of depression and anxiety among family caregivers of pediatric cancer patients in Lebanon.</p><p><strong>Methods: </strong>It is a cross-sectional study, using a convenience sample of 193 caregivers of pediatric patients with cancer. Depression, anxiety, and work fatigue were assessed using the Patient Health Questionnaire-9, Lebanese Anxiety Scale, and 3D-Work Fatigue Inventory respectively.</p><p><strong>Results: </strong>The results showed that 18.1 % of the participants have moderately severe depression, whereas 22.2 % show severe depression. Moreover, 79.8 % had anxiety. Having a shortage of medications (Beta = 2.38) and more mental work fatigue (Beta = 0.36) were significantly associated with more depression. Higher physical (Beta = 0.32) and mental (Beta = 0.37) work fatigue were significantly associated with more anxiety.</p><p><strong>Conclusion: </strong>The study results should raise concerns and make physicians in Lebanon aware of the psychological status of the family caregivers and encourage them to provide adequate support. The results underscore the urgent need for advocacy to improve conditions for families and enhance access to care for children with cancer and their families.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145607539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Seizure freedom in pediatric juvenile myoclonic epilepsy: The roles of cognition, chronodependency, and EEG: Seizure outcome in pediatric juvenile myoclonic epilepsy. 儿童青少年肌阵挛性癫痫的发作自由:认知、时间依赖性和脑电图的作用:儿童青少年肌阵挛性癫痫的发作结局。
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-11-24 DOI: 10.1016/j.arcped.2025.10.003
Ünal Akça, Emre Sanrı, Gülfer Akça

Objective: To identify clinical, chronobiological, and electroencephalographic (EEG) predictors of seizure freedom in pediatric patients with juvenile myoclonic epilepsy (JME), and to evaluate the prognostic utility of both classic and novel markers in a real-world setting.

Methods: We conducted a retrospective cohort study of 71 pediatric JME patients (mean age at diagnosis 16.1 ± 1.05 years; 76.1 % female) diagnosed at a single tertiary center between January 2023 and January 2025. Data collected included demographic variables, seizure characteristics, academic performance, comorbidities, antiseizure medication use, and detailed EEG findings. Classic (e.g., seizure type, academic achievement) and novel predictors (e.g., chronodependency) were assessed for their association with seizure outcome. Chronodependency was defined as a pattern of seizures predominantly occurring after awakening or during specific circadian periods. Multivariate logistic regression and receiver operating characteristic (ROC) analyses were performed.

Results: At last follow-up, 63.4 % (n = 45) of patients achieved seizure freedom. High academic performance (OR=42.00, p < 0.001) and initial myoclonic seizure type (OR=6.96, p < 0.001) were strongly associated with seizure freedom, whereas high initial frequency of generalized tonic-clonic seizures (OR=0.05, p < 0.001) and failure of at least two appropriate antiseizure medications (OR=0.07, p < 0.001) predicted poor outcomes. Among novel predictors, chronodependency (OR=0.29, p = 0.025), major focal EEG abnormalities (OR=0.30, p = 0.038), and EEG hyperventilation response (OR=0.35, p = 0.025) were independent negative prognostic factors. The full multivariate model, integrating classic and novel predictors, demonstrated excellent discriminative performance (AUC=0.96). Levetiracetam was the most frequently prescribed monotherapy, reflecting the predominance of adolescent and female patients; multidrug regimens were linked to poor seizure control.

Conclusion: Seizure outcome in pediatric JME is influenced by a complex interplay of cognitive, chronobiological, and electrographic factors. Integrating academic performance, seizure type, chronodependency, and advanced EEG findings enhances prognostication and supports a personalized, multidimensional approach to management. Early identification of at-risk patients may inform tailored interventions and improve long-term outcomes.

目的:确定小儿幼年肌阵挛性癫痫(JME)患者癫痫发作自由的临床、时间生物学和脑电图(EEG)预测因素,并评估经典和新型标志物在现实世界中的预后效用。方法:我们对2023年1月至2025年1月在单一三级中心诊断的71例小儿JME患者(诊断时平均年龄16.1±1.05岁,76.1%为女性)进行了回顾性队列研究。收集的数据包括人口统计学变量、癫痫发作特征、学业表现、合并症、抗癫痫药物使用和详细的脑电图结果。经典的(例如,癫痫发作类型,学习成绩)和新颖的预测因子(例如,时间依赖性)被评估与癫痫发作结果的关系。时间依赖性被定义为一种癫痫发作模式,主要发生在醒来后或特定的昼夜节律期间。进行多因素logistic回归和受试者工作特征(ROC)分析。结果:最后一次随访,63.4% (n = 45)患者癫痫发作自由。高学习成绩(OR=42.00, p < 0.001)和初始肌阵挛性发作类型(OR=6.96, p < 0.001)与癫痫发作自由密切相关,而高初始全身性强直-阵挛性发作频率(OR=0.05, p < 0.001)和至少两种合适的抗癫痫药物失败(OR=0.07, p < 0.001)预测不良预后。在新的预测因素中,时间依赖性(OR=0.29, p = 0.025)、主要局灶性脑电图异常(OR=0.30, p = 0.038)和脑电图过度通气反应(OR=0.35, p = 0.025)是独立的负面预后因素。完整的多元模型,整合了经典和新颖的预测因子,表现出良好的判别性能(AUC=0.96)。左乙拉西坦是最常用的单药治疗,反映了青少年和女性患者的优势;多药治疗方案与癫痫控制不佳有关。结论:小儿JME发作结局受认知、时间生物学和电图因素复杂的相互作用影响。综合学习成绩、发作类型、时间依赖性和先进的脑电图结果可以增强预测,并支持个性化、多维的治疗方法。早期识别有风险的患者可以为量身定制的干预措施提供信息,并改善长期结果。
{"title":"Seizure freedom in pediatric juvenile myoclonic epilepsy: The roles of cognition, chronodependency, and EEG: Seizure outcome in pediatric juvenile myoclonic epilepsy.","authors":"Ünal Akça, Emre Sanrı, Gülfer Akça","doi":"10.1016/j.arcped.2025.10.003","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.10.003","url":null,"abstract":"<p><strong>Objective: </strong>To identify clinical, chronobiological, and electroencephalographic (EEG) predictors of seizure freedom in pediatric patients with juvenile myoclonic epilepsy (JME), and to evaluate the prognostic utility of both classic and novel markers in a real-world setting.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of 71 pediatric JME patients (mean age at diagnosis 16.1 ± 1.05 years; 76.1 % female) diagnosed at a single tertiary center between January 2023 and January 2025. Data collected included demographic variables, seizure characteristics, academic performance, comorbidities, antiseizure medication use, and detailed EEG findings. Classic (e.g., seizure type, academic achievement) and novel predictors (e.g., chronodependency) were assessed for their association with seizure outcome. Chronodependency was defined as a pattern of seizures predominantly occurring after awakening or during specific circadian periods. Multivariate logistic regression and receiver operating characteristic (ROC) analyses were performed.</p><p><strong>Results: </strong>At last follow-up, 63.4 % (n = 45) of patients achieved seizure freedom. High academic performance (OR=42.00, p < 0.001) and initial myoclonic seizure type (OR=6.96, p < 0.001) were strongly associated with seizure freedom, whereas high initial frequency of generalized tonic-clonic seizures (OR=0.05, p < 0.001) and failure of at least two appropriate antiseizure medications (OR=0.07, p < 0.001) predicted poor outcomes. Among novel predictors, chronodependency (OR=0.29, p = 0.025), major focal EEG abnormalities (OR=0.30, p = 0.038), and EEG hyperventilation response (OR=0.35, p = 0.025) were independent negative prognostic factors. The full multivariate model, integrating classic and novel predictors, demonstrated excellent discriminative performance (AUC=0.96). Levetiracetam was the most frequently prescribed monotherapy, reflecting the predominance of adolescent and female patients; multidrug regimens were linked to poor seizure control.</p><p><strong>Conclusion: </strong>Seizure outcome in pediatric JME is influenced by a complex interplay of cognitive, chronobiological, and electrographic factors. Integrating academic performance, seizure type, chronodependency, and advanced EEG findings enhances prognostication and supports a personalized, multidimensional approach to management. Early identification of at-risk patients may inform tailored interventions and improve long-term outcomes.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145607552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Annular lesions in childhood: A narrative review. 儿童环形病变:叙述回顾。
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-11-23 DOI: 10.1016/j.arcped.2025.10.004
Sergio Castillo-Pinto, Margarita Gomez, Monica Novoa-Candia

Backgound: Annular skin lesions are ring-shaped manifestations characterized by an erythematous margin and a preserved or atrophic center. Their pathophysiology involves mechanisms such as peripheral inflammatory mediator expansion or immune tolerance at the center of the lesions.

Methods: This article reviews some of the most common annular lesions observed in pediatric populations within our setting.

Results: We included urticarial vasculitis, childhood cutaneous lupus erythematous, Still's disease, annular granuloma, centriphugal annular erythema, pigmentary dermatoses, erythema migrans, multiform urticaria, acute hemorrhagic edema of the infancy, infectious dermatoses such as dermatophyte infections, and blistering conditions like linear IgA dermatosis, highlighting their clinical presentations, diagnostic approaches, and treatment options, emphasizing the importance of clinical correlation, biopsy findings, and appropriate therapeutic strategies.

Conclusion: This review will assist clinicians in diagnosing diseases associated with annular skin lesions.

背景:环状皮肤病变是一种环状病变,其特征是边缘红斑和中心保存或萎缩。其病理生理机制包括外周炎症介质扩张或病灶中心的免疫耐受。方法:这篇文章回顾了一些最常见的环性病变观察在儿科人群在我们的设置。结果:我们纳入了荨麻疹血管炎、儿童皮肤红斑狼疮、Still’s病、环状肉芽肿、离心性环状红斑、色素性皮肤病、迁移性红斑、多种形式的荨麻疹、婴幼儿急性出血性水肿、感染性皮肤病(如皮肤真菌感染)和水泡性疾病(如线性IgA皮肤病),强调了它们的临床表现、诊断方法和治疗方案,强调了临床相关性的重要性。活检结果,以及适当的治疗策略。结论:本综述将有助于临床医生诊断与环形皮肤病变相关的疾病。
{"title":"Annular lesions in childhood: A narrative review.","authors":"Sergio Castillo-Pinto, Margarita Gomez, Monica Novoa-Candia","doi":"10.1016/j.arcped.2025.10.004","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.10.004","url":null,"abstract":"<p><strong>Backgound: </strong>Annular skin lesions are ring-shaped manifestations characterized by an erythematous margin and a preserved or atrophic center. Their pathophysiology involves mechanisms such as peripheral inflammatory mediator expansion or immune tolerance at the center of the lesions.</p><p><strong>Methods: </strong>This article reviews some of the most common annular lesions observed in pediatric populations within our setting.</p><p><strong>Results: </strong>We included urticarial vasculitis, childhood cutaneous lupus erythematous, Still's disease, annular granuloma, centriphugal annular erythema, pigmentary dermatoses, erythema migrans, multiform urticaria, acute hemorrhagic edema of the infancy, infectious dermatoses such as dermatophyte infections, and blistering conditions like linear IgA dermatosis, highlighting their clinical presentations, diagnostic approaches, and treatment options, emphasizing the importance of clinical correlation, biopsy findings, and appropriate therapeutic strategies.</p><p><strong>Conclusion: </strong>This review will assist clinicians in diagnosing diseases associated with annular skin lesions.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145598461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tacrolimus in pediatric patients with Henoch-Schönlein purpura nephritis: Target concentration range. 他克莫司在小儿紫癜性肾炎Henoch-Schönlein患者中的作用:目标浓度范围。
IF 1.3 4区 医学 Q3 PEDIATRICS Pub Date : 2025-11-12 DOI: 10.1016/j.arcped.2025.09.002
Fashuang Li, Huiying Li, Linbo Li, Lilin Zhang

Objective: This study seeks to establish the therapeutic reference range for tacrolimus blood concentrations in pediatric patients diagnosed with Henoch-Schönlein purpura nephritis (HSPN) and to evaluate the factors influencing tacrolimus pharmacokinetics in this population.

Methods: Receiver operating characteristic (ROC) curve analysis was utilized to determine the optimal therapeutic threshold for tacrolimus concentration. Comparative analyses were conducted to assess clinical efficacy and adverse event profiles across four groups of tacrolimus concentrations [Group A(<3 ng·mL-1), Group B (3-<5 ng·mL-1), Group C (5-<10 ng·mL-1), and Group D (≥10 ng·mL-1)], thereby establishing a reference therapeutic range. Kaplan-Meier survival analysis was employed to evaluate differences in continuous remission survival rate and remission duration among four distinct concentration groups, validating the precision of the target trough concentration range. Additionally, multivariate linear regression analysis was performed to identify significant factors influencing tacrolimus concentrations.

Results: A cohort of 105 pediatric patients diagnosed with HSPN were enrolled in this study. After six months of tacrolimus therapy, the ROC curve analysis revealed that the tacrolimus trough concentration had significant diagnostic value for clinical efficacy, with an area under the curve (AUC) of 0.816 (P < 0.01), and an optimal cutoff value of 3.02 ng·mL-1. Comparative analysis of clinical efficacy across four groups demonstrated that Group A exhibited significantly lower efficacy compared to the other groups. After 12 months of tacrolimus treatment, the diagnostic utility of the ROC curve was further confirmed, with an AUC of 0.798 (P > 0.05), indicating limited predictive performance. Although no significant differences in adverse event rates were observed among the four groups, Group D displayed a notably higher incidence of nephrotoxicity relative to the other groups. Multivariate linear regression analysis identified serum creatinine level as a significant determinant of tacrolimus concentration (P < 0.05).

Conclusion: In pediatric patients with HSPN in China, maintaining tacrolimus trough concentrations within the therapeutic range of 3-5 ng·mL-1 has been demonstrated to achieve optimal therapeutic efficacy.

目的:本研究旨在建立Henoch-Schönlein紫癜性肾炎(HSPN)患儿他克莫司血药浓度的治疗参考范围,并评价该人群中影响他克莫司药代动力学的因素。方法:采用受试者工作特征(ROC)曲线分析确定他克莫司的最佳治疗阈值。通过比较分析评估他克莫司浓度[A组(-1)、B组(3—1)、C组(5—1)和D组(≥10 ng·mL-1)]四组的临床疗效和不良事件概况,从而建立一个参考治疗范围。采用Kaplan-Meier生存分析评估4个不同浓度组持续缓解生存率和缓解持续时间的差异,验证目标谷浓度范围的准确性。此外,进行多元线性回归分析以确定影响他克莫司浓度的重要因素。结果:105名诊断为HSPN的儿科患者被纳入本研究。他克莫司治疗6个月后,ROC曲线分析显示他克莫司谷浓度对临床疗效具有显著的诊断价值,曲线下面积(AUC)为0.816 (P < 0.01),最佳截断值为3.02 ng·mL-1。四组临床疗效对比分析显示,A组疗效明显低于其他组。他克莫司治疗12个月后,ROC曲线的诊断效用进一步得到证实,AUC为0.798 (P < 0.05),表明预测效果有限。虽然四组间不良事件发生率无显著差异,但D组肾毒性发生率明显高于其他组。多因素线性回归分析发现血清肌酐水平是他克莫司浓度的重要决定因素(P < 0.05)。结论:在中国儿童HSPN患者中,维持他克莫司谷浓度在3-5 ng·mL-1治疗范围内可获得最佳治疗效果。
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Archives De Pediatrie
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