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Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort EAS 建议提出 7 年后的小儿杂合子家族性高胆固醇血症治疗:来自法国大型队列的实际结果。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-04-01 DOI: 10.1016/j.arcped.2024.01.004
Noel Peretti , Alexandre Vimont , Emmanuel Mas , Julie Lemale , Rachel Reynaud , Patrick Tounian , Pierre Poinsot , Liora Restier , François Paillard , Alain Pradignac , Yann Pucheu , Jean-Pierre Rabès , Eric Bruckert , Antonio Gallo , Sophie Béliard

Background

Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8–10 years of age and a low-density lipoprotein cholesterol (LDL-C) target of <135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking.

Objective

Here, we describe treatment patterns and LDL-C goal attainment in pediatric HeFH using longitudinal real-world data.

Methods

This was a retrospective and prospective multicenter cohort study (2015–2021) of children with HeFH, diagnosed genetically or clinically, aged <18 years, and followed up in the National French Registry of FH (REFERCHOL). Data on the study population as well as treatment patterns and outcomes are summarized as mean±SD.

Results

We analyzed the data of 674 HeFH children (age at last visit: 13.1 ± 3.6 years; 82.0 % ≥10 years; 52.5 % females) who were followed up for a mean of 2.8 ± 3.5 years. Initiation of lipid-lowering therapy was on average at 11.8 ± 3.0 years of age for a duration of 2.5 ± 2.8 years. At the last visit, among patients eligible for treatment (573), 36 % were not treated, 57.1 % received statins alone, 6.4 % statins with ezetimibe, and 0.2 % ezetimibe alone. LDL-C was 266±51 mg/dL before treatment and 147±54 mg/dL at the last visit (−44.7 %) in treated patients. Regarding statins, 3.3 %, 65.1 %, and 31.6 % of patients received high-, moderate-, and low-intensity statins, respectively. Overall, 59 % of children on statin therapy alone and 35.1 % on bitherapy did not achieve the LDL-C goal; fewer patients in the older age group did not reach the treatment goal.

Conclusion

Pediatric patients with FH followed up in specialist lipid clinics in France receive late treatment, undertreatment, or suboptimal treatment and half of them do not reach the therapeutic LDL-C goal. Finding a more efficient framework for linking scientific evidence to clinical practice is needed.

背景:杂合子家族性高胆固醇血症(HeFH杂合子家族性高胆固醇血症(HeFH)易导致过早的心血管疾病。自 2015 年以来,欧洲动脉粥样硬化协会一直提倡在 8-10 岁时开始服用他汀类药物,并将低密度脂蛋白胆固醇(LDL-C)的目标值设定为:目的:在此,我们利用纵向真实世界数据描述了小儿 HeFH 的治疗模式和 LDL-C 目标的实现情况:这是一项回顾性和前瞻性多中心队列研究(2015-2021 年),研究对象为经基因或临床确诊的 HeFH 儿童,年龄为 20 岁:我们分析了 674 名 HeFH 儿童(最后一次就诊时年龄:13.1 ± 3.6 岁;82.0 % ≥10 岁;52.5 % 为女性)的数据,这些儿童平均接受了 2.8 ± 3.5 年的随访。开始接受降脂治疗的平均年龄为(11.8 ± 3.0)岁,持续时间为(2.5 ± 2.8)年。在最后一次就诊时,符合治疗条件的患者(573人)中,36%未接受治疗,57.1%仅接受他汀类药物治疗,6.4%接受他汀类药物联合依折麦布治疗,0.2%仅接受依折麦布治疗。接受治疗的患者治疗前的 LDL-C 为 266±51 mg/dL,最后一次就诊时为 147±54 mg/dL(-44.7%)。关于他汀类药物,3.3%、65.1% 和 31.6% 的患者分别服用了高强度、中等强度和低强度他汀类药物。总体而言,59%单独接受他汀类药物治疗的儿童和35.1%接受联合治疗的儿童未达到低密度脂蛋白胆固醇目标;年龄较大的患者中未达到治疗目标的人数较少:结论:法国血脂专科门诊随访的小儿 FH 患者接受治疗较晚、治疗不足或治疗效果不佳,其中半数患者未达到低密度脂蛋白胆固醇治疗目标。需要找到一个更有效的框架,将科学证据与临床实践联系起来。
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引用次数: 0
Necrotizing pneumonia in children: Report of 25 cases between 2008 and 2018 at a French tertiary care center 儿童坏死性肺炎:法国一家三级医疗中心 2008 年至 2018 年间 25 例病例的报告。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-04-01 DOI: 10.1016/j.arcped.2023.12.004
Manon Cathalau , Marine Michelet , Aurélien Rancé , Guillaume Martin-Blondel , Olivier Abbo , Damien Dubois , Géraldine Labouret , Erick Grouteau , Isabelle Claudet , Lucas Ricco , Léa Roditis , Jean-Michel Mansuy , Sophie Simon , Camille Bréhin

Background

Necrotizing pneumonia (NP) is a serious and rare disease in children. Pediatric data on NP are limited and the impact of the 13-valent pneumococcal conjugate vaccine has been very poorly evaluated.

Patients and methods

We conducted a retrospective study at Toulouse University Hospital between 2008 and 2018. Children who presented with thin-walled cavities in the areas of parenchymal consolidation on imaging were included in the study.

Results

The incidence of NP did not decrease during this period. Bacterial identification occurred in 56% of cases (14/25) and included six cases of Streptococcus pneumoniae, five of Staphylococcus aureus, two of Streptococcus pyogenes, and one of Streptococcus viridans. Streptococcus pneumoniae NP are more frequently associated with empyema/parapneumonic effusion compared to S. aureus NP (p = 0.02). Patients with S. pyogenes NP more often required volume expansion than did S. pneumoniae cases (p = 0.03). When comparing children born before and after implementation of the 13-valent pneumococcal conjugate vaccine, we identified a relative modification of the bacterial epidemiology, with an increase in the proportion of S. pyogenes NP and S. aureus NP and a decrease in the proportion of NP caused by S. pneumoniae.

Conclusion

Future studies are needed to assess the epidemiology of NP in children. Continued surveillance of identified pneumococcal serotypes is essential to document epidemiological changes in the coming years.

背景:坏死性肺炎(NP坏死性肺炎(NP)是一种严重而罕见的儿童疾病。关于坏死性肺炎的儿科数据十分有限,而且对13价肺炎球菌结合疫苗的影响评估也很不充分:我们在 2008 年至 2018 年期间在图卢兹大学医院进行了一项回顾性研究。研究对象包括在影像学检查中出现实质合并区域薄壁空洞的儿童:在此期间,NP的发病率并未下降。56%的病例(14/25)进行了细菌鉴定,其中6例为肺炎链球菌,5例为金黄色葡萄球菌,2例为化脓性链球菌,1例为病毒性链球菌。与金黄色葡萄球菌 NP 相比,肺炎链球菌 NP 更常伴有肺水肿/副肺积液(p = 0.02)。与肺炎链球菌 NP 病例相比,化脓性肺炎链球菌 NP 患者更常需要扩容(p = 0.03)。在比较 13 价肺炎球菌结合疫苗接种前后出生的儿童时,我们发现细菌流行病学发生了相对变化,化脓性链球菌 NP 和金黄色葡萄球菌 NP 的比例增加,而肺炎球菌引起的 NP 的比例下降:结论:今后需要开展研究来评估儿童非典型肺炎的流行病学。对已确定的肺炎球菌血清型进行持续监测对于记录未来几年的流行病学变化至关重要。
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引用次数: 0
Analysis of risk factors for depression and anxiety related to the degree of asthma control in children according to gender. 根据性别分析与儿童哮喘控制程度相关的抑郁和焦虑风险因素。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-02-15 DOI: 10.1016/j.arcped.2023.09.017
Ning Wang, Long Zhao, Cuicui Liu, Xiaolan Shi, Jing Wang, Shouzhen Wu

Objective: The purpose of the study was to investigate whether risk factors involved in the degree of asthma control were the same for children of both genders.

Methods: This cross-sectional study collected relevant data from 320 children with asthma attending the respiratory asthma clinic at a local children's hospital. All the patients passed the Asthma Control Test (ACT) or the Childhood Asthma Control Test (cACT), lung-function-related tests, the Children's Depression Inventory (CDI), the Screening Scale for Anxiety-Related Mood Disorders (SCARED), and the Family Personal Information Questionnaire.

Results: The study found that gender (p=0.034) was a risk factor for poor asthma control and that girls (odds ratio [OR]=1.669, p=0.042) were more likely to have poor asthma control than boys. Univariate logistic regression analysis found that severe wasting (OR=0.075, p=0.021), depression (OR=43. 550, p<0.001), anxiety (OR=4.769, p=0.036), FEV1% (OR=0.970, p=0.043), FEV1/FVC% (OR=0.921, p=0. 008), and PEF% (OR=0.961, p=0.012) were risk factors for poor asthma control in girls.

Conclusion: The risk factors for the degree of asthma control in children with asthma appeared to vary according to gender.

研究目的本研究旨在探讨男女儿童哮喘控制程度所涉及的风险因素是否相同:这项横断面研究收集了 320 名哮喘患儿的相关数据,他们都曾在当地一家儿童医院的呼吸道哮喘门诊就诊。所有患者都通过了哮喘控制测试(ACT)或儿童哮喘控制测试(cACT)、肺功能相关测试、儿童抑郁量表(CDI)、焦虑相关情绪障碍筛查量表(SCARED)和家庭个人信息问卷:研究发现,性别(p=0.034)是哮喘控制不佳的一个风险因素,女孩(几率比[OR]=1.669,p=0.042)比男孩更容易出现哮喘控制不佳的情况。单变量逻辑回归分析发现,严重消瘦(OR=0.075,p=0.021)、抑郁(OR=43.550,p结论:哮喘儿童哮喘控制程度的风险因素似乎因性别而异。
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引用次数: 0
Medical management of vegetarian and vegan children in France: Medical practices and parents’ perceptions 法国素食和纯素儿童的医疗管理:医疗实践和家长的看法
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.006
Marion Barbier , Irène Boisseau , Julie Lemale , Marie Chevallier , Guillaume Mortamet

Objectives

Despite a significant increase in the prevalence of vegetarianism and veganism in children in France, data on the care pathway of these children are scarce. This study aimed to describe the characteristics of the medical follow-up of vegan/vegetarian children, to evaluate the medical practices, and to analyze the perceptions of parents.

Materials and methods

This was a double cross-sectional survey. One questionnaire was sent to parents of vegetarian/vegan children, and the other to French doctors (pediatricians or general practitioners).

Results

A total of 241 vegetarian families responded to the study and nearly one quarter (n = 67, 28 %) were unsatisfied with the medical follow-up of their child. Parents considered that their child's diet was responsible for refusing a medical consultation in 11 % (n = 27) of cases. In almost one third of cases (n = 70, 29 %), participants declared that the doctor was unaware of their child's diet. Vitamin B12 supplementation was commonly used (n = 195, 81 %), mainly by self-medication, and laboratory testing was performed for 30 % (n = 72) of children. Regarding the questionnaire for doctors, most of the participants (n = 318/501, 63 %) reported having vegetarian/vegan children in their cohort. A few of them (n = 70, 14 %) declared they did not systematically screen for meat and fish consumption during consultations. Doctors caring for vegetarian/vegan children had 27 % correct answers to questions regarding the nutrition guidelines. Overall, 36 % of them (n = 117) systematically referred the child to a specialist.

Conclusion

The medical follow-up of vegetarian/vegan children in France is very heterogeneous. Parents and doctors alike stressed the need to develop reliable sources of knowledge. A systematic screening of the diet and a referral to a specialist could help to improve the management of vegetarian/vegan children.

目的尽管法国儿童素食主义和纯素主义的流行率大幅上升,但有关这些儿童的护理途径的数据却很少。本研究旨在描述素食/纯素儿童医疗跟踪的特点,评估医疗实践,并分析家长的看法。结果 共有 241 个素食家庭对研究做出了回应,近四分之一(n = 67,28%)的家庭对其子女的医疗跟踪不满意。在 11% 的案例中(n = 27),家长认为孩子的饮食习惯是拒绝就诊的原因。在近三分之一的病例中(70 例,29%),参与者称医生不了解他们孩子的饮食情况。维生素 B12 补充剂的使用很普遍(n = 195,81%),主要是通过自我药物治疗,30% 的儿童(n = 72)进行了实验室检测。关于医生问卷调查,大多数参与者(n = 318/501,63%)表示他们的队列中有素食/纯素儿童。其中少数人(n = 70,14%)声称他们在问诊时没有系统地筛查肉类和鱼类的摄入量。照顾素食/纯素儿童的医生对营养指南相关问题的正确回答率为 27%。总的来说,其中 36% 的医生(n = 117)会系统地将儿童转介给专科医生。家长和医生都强调需要开发可靠的知识来源。对饮食进行系统筛查并转诊至专科医生,有助于改善对素食/纯素儿童的管理。
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引用次数: 0
Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2 新生儿盐耗损综合征:由 CYP11B2 的一个新剪接变体引起的醛固酮合成酶缺乏症。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.007
Rémy Gerard , Clément Sauvestre , Pascal Barat , Jérôme Harambat , Clément Janot , Delphine Mallet , Florence Roucher-Boulez , Lise Allard

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder involving isolated aldosterone deficiency without any compromise of other adrenal hormones. This condition manifests mainly in the neonatal period and in infants as a salt wasting syndrome with vomiting and failure to thrive. Due to its potentially life-threatening effects, ASD requires a careful and early diagnosis based on appropriate hormonal investigations in order to initiate adequate management: rehydration as well as salt and fludrocortisone supplementation. Genetic analysis of the CYP11B2 gene will confirm ASD in most cases. We report the case of a newborn with a typical clinical presentation associated with some uncommon phenotypic features (hyperhidrosis, liver injury). Furthermore, our patient carries a new CYP11B2 splicing variant to be added to the approximately 60 pathogenic or likely pathogenic variants already reported.

醛固酮合成酶缺乏症(ASD)是一种罕见的常染色体隐性遗传疾病,涉及孤立的醛固酮缺乏症,而其他肾上腺激素没有受到任何损害。这种疾病主要在新生儿期和婴儿期表现为盐耗损综合征,伴有呕吐和发育不良。由于 ASD 有可能危及生命,因此需要在适当的激素检查基础上进行仔细和早期诊断,以便采取适当的治疗措施:补液以及补充盐分和氟氢可的松。对 CYP11B2 基因的遗传分析在大多数情况下都能确诊 ASD。我们报告的病例中,一名新生儿具有典型的临床表现,同时伴有一些不常见的表型特征(多汗症、肝损伤)。此外,我们的患者还携带一种新的 CYP11B2 剪接变异,这是已报道的约 60 种致病或可能致病变异之外的又一种新变异。
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引用次数: 0
Body composition and resting energy expenditure in a group of children with achondroplasia 一组软骨发育不全儿童的身体成分和静息能量消耗:预测模型在治疗肥胖症中的效果
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.005
Laura Garde-Etayo , Paula Camelia Trandafir , Céline Saint-Laurent , María Dolores Ugarte , Ana María Insausti Serrano

Background

Persons with achondroplasia develop early obesity, which is a comorbidity associated with other complications. Currently, there are no validated specific predictive equations to estimate resting energy expenditure in achondroplasia.

Methods

We analyzed the influence of body composition on this parameter and determined whether predictive models used for children with standard height are adjusted to achondroplasia. In this cross-sectional study, we measured anthropometric parameters in children with achondroplasia. Fat mass was obtained using the Slaughter skinfold-thickness equation and resting energy expenditure was determined with a Fitmate-Cosmed calorimeter and with predictive models validated for children with average height (Schofield, Institute of Medicine, and Tverskaya).

Results

All of the equations yielded a lower mean value than resting energy expenditure with indirect calorimetry (1256±200 kcal/day [mean±SD]) but the closest was the Tverskaya equation (1017 ± 64 kcal/day), although the difference remained statistically significant. We conclude that weight and height have the greatest influence on resting energy expenditure.

Conclusion

We recommend studying the relationship between body composition and energy expenditure in achondroplasia in more depth. In the absence of valid predictive models suitable for clinical use to estimate body composition and resting energy expenditure in achondroplasia, it is recommended to use the gold standard methods by taking into account certain anthropometric parameters.

背景软骨发育不全患者会出现早期肥胖,这是一种与其他并发症相关的合并症。方法我们分析了身体成分对这一参数的影响,并确定用于标准身高儿童的预测模型是否适用于软骨发育不全。在这项横断面研究中,我们测量了软骨发育不全儿童的人体测量参数。脂肪量采用 Slaughter 皮褶厚度方程计算,静息能量消耗采用 Fitmate-Cosmed 热量计和针对平均身高儿童(Schofield、Institute of Medicine 和 Tverskaya)验证的预测模型测定。结果 所有方程得出的平均值都低于间接热量计得出的静息能量消耗(1256±200 千卡/天[平均值±SD]),但最接近的是 Tverskaya 方程(1017±64 千卡/天),尽管两者之间的差异仍有统计学意义。我们的结论是,体重和身高对静息能量消耗的影响最大。由于缺乏适合临床使用的有效预测模型来估算软骨发育不全患者的身体成分和静息能量消耗,因此建议使用金标准方法,将某些人体测量参数考虑在内。
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引用次数: 0
Physical activity and sedentary behaviors in Polish children and adolescents 波兰儿童和青少年的体育活动和久坐行为。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.07.009
Sara Górna, Katarzyna Pazdro-Zastawny, Alicja Basiak-Rasała, Joanna Krajewska, Mateusz Kolator, Ireneusz Cichy, Andrzej Rokita, Tomasz Zatoński
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引用次数: 0
Parents’ participation in collegial meetings to discuss withholding or withdrawing treatment for their newborn: Working to improve information-sharing 家长参加合议会议,讨论暂停或撤消对新生儿的治疗:努力改善信息共享。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.004
Philippe Boize , Yaëlle Garner , Enora Neaud , Suzanne Borrhomee

Aim

The role of parents in decision-making concerning their child's end-of-life care is not clearly defined. Their participation is encouraged by ethical reflection, in particular by the CCNE (French National Ethics Advisory Committee), but laws are limited to imposing a duty to provide information to doctors. Decisions are taken at the end of a collegial meeting (CM) intended to better inform the child's referring physician (RP) who is in charge of the final decision following the French law. The aim of this study was to describe the support provided to bereaved families after they had been invited to attend a CM concerning their child, if they so wished. Additional aims were to determine the differences resulting from their acceptance or their refusal to participate as regards their perception of their child's history and as regards their grieving process.

Material and method

We conducted a retrospective study of all CMs held between November 2016 and May 2021, drawing a distinction between proposals made or not made to parents and their decision to accept or refuse.

Results

In total, 49 CMs concerning 46 children were held during the study period. The proposal was not made to the parents in three cases; the parents chose to be present in 28 cases. The psychological follow-up (15/28 parents attending, 10/16 parents absent) illustrated that their presence enabled them to reflect on their child's death after having listened to and understood the reasons why it happened. They did not dispute the team's approach or decisions taken.

Conclusion

It is possible to include parents in CMs if they so wish. It would appear more beneficial than merely providing them with the information required. Studies must be carried out to ensure potential long-term benefit.

目的:父母在子女临终关怀决策中的角色尚未明确界定。法国国家伦理咨询委员会(CCNE)的伦理反思鼓励父母参与其中,但法律仅限于规定父母有义务向医生提供信息。在合议会议(CM)结束时做出决定,目的是更好地告知患儿的转诊医生(RP),后者负责根据法国法律做出最终决定。本研究的目的是描述丧亲家庭应邀参加有关其子女的合议会议(如果他们愿意的话)后所获得的支持。此外,我们还希望了解丧亲家庭接受或拒绝参加会议后,他们对子女病史的看法以及他们的悲痛过程有何不同:我们对2016年11月至2021年5月期间举行的所有CM进行了回顾性研究,区分了向家长提出或未提出的建议以及他们接受或拒绝的决定:研究期间共进行了 49 次中西医结合治疗,涉及 46 名儿童。有 3 例未向家长提出建议;有 28 例家长选择出席。心理随访结果(15/28 位家长出席,10/16 位家长缺席)表明,家长的出席使他们在听取并理解了孩子死亡的原因后,能够对孩子的死亡进行反思。他们对小组的方法或做出的决定没有异议:结论:如果父母愿意,可以让他们参与医疗小组的工作。这似乎比仅仅向他们提供所需的信息更有益。必须开展研究,以确保潜在的长期益处。
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引用次数: 0
Two-year audit of compliance in the preparation and administration of medications by nursing staff in a mother-and-child university hospital center 对一所母婴大学医院中心护理人员配药和用药遵从情况的两年期审计。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.09.011
Charlotte Jacolin , Amélie Monnier , Élisabeth Farcy , Suzanne Atkinson , Véronique Pelchat , Stéphanie Duval , Jean-François Bussières

Objective

Audits are essential for reviewing and improving the medication-use process. Identifying areas for improvement can limit the risk of errors when preparing and administering drugs. Pediatric centers face specific challenges in ensuring the safety of the medication-use process. The objective of this study was to observe and compare compliance with criteria for the preparation and administration of medications by nurses in a mother-and-child university hospital center over two consecutive years.

Methods

This observational cross-sectional study was conducted in a Canadian mother-and-child university hospital center. Audits were conducted over a 1-month period in 16 and 18 nursing care sectors in 2021 and 2022, respectively. The standardized audit evaluated compliance with prespecified criteria related to the preparation and administration of medication by nursing staff (77 criteria for 2021 and 82 criteria for 2022). The auditors comprised nurses and a pharmacist trained by the research team. Compliance was compared between years and assessed through a chi-square test.

Results

The audit consisted of 522 observations in 2021 and 448 observations in 2022. Overall compliance was 76% in 2021 and 66% in 2022. The compliance rate by criterion ranged from 16% to 100%. In 2021 and 2022, 51 (84%) and 52 (87%) of the criteria, respectively, had compliance rates of more than 75%, and 12 (20%) and eight (13%), respectively, had 100% compliance. There were statistically significant decreases in compliance for nine of the 39 criteria for preparation of medications, notably prior hand hygiene (91%% vs. 84%, p = 0.002), and for six of the 17 criteria for administration of medications, including mentioning possible adverse effects to the patient (41% vs- 30%, p = 0.008).

Conclusion

In this study, compliance was over 75% for most of the criteria. However, for a few criteria, we observed a decrease in compliance from 2021 to 2022. Various hypotheses are proposed to explain these decreases, such as the COVID-19 pandemic.

目的:审核对于审查和改进用药流程至关重要。找出需要改进的地方可以降低配药和用药过程中出现错误的风险。儿科中心在确保用药过程安全方面面临着特殊的挑战。本研究的目的是观察和比较一所大学附属母婴医院中心的护士在连续两年内对配制和给药标准的遵守情况:这项观察性横断面研究在加拿大一所母婴大学医院中心进行。分别于 2021 年和 2022 年对 16 个和 18 个护理部门进行了为期 1 个月的审计。标准化审核评估了护理人员在准备和用药方面是否符合预先规定的标准(2021 年为 77 项标准,2022 年为 82 项标准)。审核人员包括护士和一名接受过研究小组培训的药剂师。通过卡方检验对不同年份的合规性进行比较和评估:审核包括 2021 年的 522 次观察和 2022 年的 448 次观察。2021 年的总体合规率为 76%,2022 年为 66%。各标准的符合率从 16% 到 100% 不等。2021 年和 2022 年,分别有 51 项(84%)和 52 项(87%)标准的符合率超过 75%,分别有 12 项(20%)和 8 项(13%)标准的符合率达到 100%。在 39 项用药准备标准中,有 9 项标准的达标率出现了统计学意义上的显著下降,尤其是事先进行手部卫生(91% vs. 84%,P = 0.002);在 17 项用药标准中,有 6 项标准的达标率出现了统计学意义上的显著下降,包括向患者提及可能出现的不良反应(41% vs- 30%,P = 0.008):结论:在本研究中,大多数标准的符合率超过 75%。结论:在本研究中,大多数标准的依从性超过 75%。然而,我们观察到少数标准的依从性从 2021 年到 2022 年有所下降。我们提出了各种假设来解释这些下降,例如 COVID-19 大流行。
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引用次数: 0
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type 从SMN2拷贝数或类型的角度分析纽西奈森对57名患有SMA的幼儿3年治疗后的效果
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.009
Frédérique Audic , Sonia M. Dubois , Julien Durigneux , Christine Barnerias , Arnaud Isapof , Marie-Christine Nougues , Jean-Baptiste Davion , Christian Richelme , Carole Vuillerot , Laure Legoff , Pascal Sabouraud , Claude Cances , Vincent Laugel , Juliette Ropars , Caroline Espil-Taris , Valérie Trommsdorff , Anne Pervillé , Marta Gomez Garcia-de-la-Banda , Hervé Testard , Mondher Chouchane , Isabelle Desguerre

Background

Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder due to an autosomal recessive mutation in the survival motor neuron 1 gene (SMN1), causing degeneration of the anterior horn cells of the spinal cord and resulting in muscle atrophy. This study aimed to report on the 36-month follow-up of children with SMA treated with nusinersen before the age of 3 years. Changes in motor function, nutritional and ventilatory support, and orthopedic outcomes were evaluated at baseline and 36 months after intrathecal administration of nusinersen and correlated with SMA type and SMN2 copy number.

Results

We found that 93% of the patients gained new motor skills during the 3 years—standing without help for 12 of 37 and walking with help for 11 of 37 patients harboring three SMN2 copies. No patients with two copies of SMN2 can stand alone or walk. Patients bearing three copies of SMN2 are more likely to be spared from respiratory, nutritional, and orthopedic complications than patients with two SMN2 copies.

Conclusion

Children with SMA treated with nusinersen continue to make motor acquisitions at 3 years after initiation of treatment. Children with two SMN2 copies had worse motor, respiratory, and orthopedic outcomes after 3 years of treatment than children with three copies.

背景脊髓性肌萎缩症(SMA)是一种罕见的遗传性神经肌肉疾病,由于存活运动神经元1基因(SMN1)的常染色体隐性突变,导致脊髓前角细胞变性,从而引起肌肉萎缩。本研究旨在报告 3 岁前接受纽西那生治疗的 SMA 患儿 36 个月的随访情况。结果我们发现,93%的患者在3年中获得了新的运动技能--37名携带3个SMN2拷贝的患者中,12名无需帮助即可站立,11名需要帮助才能行走。有两个SMN2拷贝的患者都不能独自站立或行走。携带三个SMN2拷贝的患者比携带两个SMN2拷贝的患者更有可能避免呼吸系统、营养和骨科并发症。有两个SMN2拷贝的患儿在治疗3年后的运动、呼吸和矫形效果比有三个拷贝的患儿差。
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Archives De Pediatrie
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