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Removal of airway foreign body using flexible bronchoscopy in children 使用软支气管镜清除儿童气道异物。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2024.01.008
Sabrine Louhaichi , Nouha Boubaker , Besma Hamdi , Ella Nemsi , Sonia Ouerghi , Taher Mestiri , Adel Marghli , Jamel Ammar , Agnès Hamzaoui

Background

Flexible bronchoscopy is mainly used to diagnose airway foreign bodies (AFBs). Due to advances in pediatric anesthesia, many teams have considered the extraction of AFBs by flexible bronchoscopy. We aimed to assess the success of flexible bronchoscopy in AFB removal in children.

Patients and methods

We analyzed retrospectively the data of children admitted for AFB aspiration in the Pediatric Respiratory Diseases Department B of Abderrahmane Mami Hospital in Tunisia between January 2012 and December 2022. AFB removal was performed by flexible bronchoscopy through the use of a laryngeal mask airway (LMA) or intubation.

Results

Of the 105 children included, AFB was removed by flexible bronchoscopy in 99 children (94.3 %). The mean age of the children was 32 months (9–150 months) with a sex ratio of 2:3. The foreign body was organic in 67 % of cases. Overall, 37 children underwent rigid bronchoscopy first (35.2 %). Flexible bronchoscopy was performed through the LMA in 77 cases (73 %) and after intubation in the other cases. Thoracic surgery was needed in two cases (1.9 %). Four infants expectorated the AFB after the procedure (3.8 %). Only two children developed laryngeal edema with transient oxygen desaturation.

Conclusion

AFB removal using a flexible bronchoscope is an efficient and safe procedure when performed by an experienced team. The recent use of LMA has facilitated the use of a larger bronchofiberscope and the insertion of multiple tools that can reach distal airways.

背景柔性支气管镜主要用于诊断气道异物(AFB)。随着儿科麻醉技术的进步,许多团队已考虑通过柔性支气管镜取出气道异物。患者和方法我们回顾性分析了2012年1月至2022年12月期间突尼斯Abderrahmane Mami医院B区小儿呼吸道疾病科收治的AFB吸入患儿的数据。在纳入的 105 名儿童中,99 名儿童(94.3%)通过软支气管镜清除了 AFB。患儿的平均年龄为 32 个月(9-150 个月),男女比例为 2:3。67%的病例中异物为有机物。总体而言,37 名儿童首先接受了硬质支气管镜检查(35.2%)。通过 LMA 进行柔性支气管镜检查的有 77 例(73%),其他病例则在插管后进行。有 2 例(1.9%)需要进行胸腔手术。四名婴儿(3.8%)在手术后排出了 AFB。只有两名患儿出现喉头水肿和一过性氧饱和度降低。最近使用的 LMA 便于使用较大的支气管纤维镜和插入多种可到达远端气道的工具。
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引用次数: 0
Evaluation of safety of fluoxetine for cerebellar mutism syndrome in children after posterior fossa surgery 评估氟西汀治疗后窝手术后儿童小脑缄默综合征的安全性。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2023.10.010
Roxane Varengue , Matthieu Delion , Emilie De Carli , Luc Le Fournier , Julien Durigneux , Mickael Dinomais , Patrick Van Bogaert

Background

Cerebellar mutism syndrome (CMS) occurs in 8–29 % of children undergoing posterior fossa tumor surgery. Its main symptoms are mutism and emotional lability. Although it is always transient, recovery time can be lengthy with long-term cognitive sequelae. There is no approved drug treatment for CMS, but some drugs are used in everyday medical practice. One of these is fluoxetine, which has been used for many years in our institution. The main objective of this study was to establish the safety profile of fluoxetine in this condition.

Materials and methods

The records of patients admitted to the pediatric intensive care unit after brain surgery at Angers University Hospital from 2010 to 2020 were reviewed. Children aged 2 years and older who underwent a posterior fossa tumor surgery and were diagnosed with CMS were included. Data on patient characteristics, prescription of fluoxetine treatment, side effects if any, and complete mutism duration were collected.

Results

Among 246 patients admitted to the pediatric intensive care unit for brain surgery during the study period, 23 had CMS and eight were prescribed fluoxetine. No serious adverse event related to fluoxetine was reported. Complete mutism duration did not differ significantly between the fluoxetine group and the non-fluoxetine group(p = 0.22). However, the treatment was initiated after recovery from complete mutism in half of the treated patients.

Conclusion

This study suggests a positive safety profile of fluoxetine used in postoperative CMS. It does not answer the question of whether the treatment is effective for this indication. A randomized controlled trial based on a syndrome severity scale should be conducted to provide a more reliable assessment of the efficacy and safety of fluoxetine.

背景:在接受后窝肿瘤手术的儿童中,8%-29%会出现小脑缄默综合征(CMS)。其主要症状是缄默和情绪不稳。虽然小脑缄默综合征总是一过性的,但恢复时间可能较长,并伴有长期认知后遗症。目前还没有获得批准的治疗 CMS 的药物,但在日常医疗实践中使用了一些药物。氟西汀就是其中之一,在我院已使用多年。本研究的主要目的是确定氟西汀在这种情况下的安全性:对昂热大学医院 2010 年至 2020 年期间脑外科手术后入住儿科重症监护室的患者病历进行回顾。研究对象包括接受后窝肿瘤手术并被诊断为CMS的2岁及以上儿童。研究人员收集了患者特征、氟西汀治疗处方、副作用(如有)和完全缄默持续时间等数据:结果:在研究期间,儿科重症监护室共收治了246名接受脑部手术的患者,其中23人患有CMS,8人接受了氟西汀治疗。没有与氟西汀相关的严重不良事件报告。氟西汀组与非氟西汀组的完全缄默期没有明显差异(P = 0.22)。然而,半数接受治疗的患者在完全缄默症恢复后才开始接受治疗:这项研究表明,氟西汀用于术后 CMS 具有积极的安全性。结论:这项研究表明,氟西汀用于术后 CMS 具有良好的安全性,但并未回答这种治疗方法是否有效的问题。应根据综合征严重程度量表进行随机对照试验,以便对氟西汀的疗效和安全性进行更可靠的评估。
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引用次数: 0
Impact of quarantine on the experience and management of children with learning disabilities or attention deficit disorders with or without hyperactivity: A retrospective observational study 隔离对患有学习障碍或注意力缺陷障碍(伴有或不伴有多动症)的儿童的经历和管理的影响:一项回顾性观察研究。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2023.10.011
Chloé Pacteau , Lawrence Nadin , Floriane Colin Mette

Background

During the COVID-19 pandemic, France faced a 2-month lockdown in 2020, marked by numerous restrictions. This study aimed to examine the experience and management of children aged 6–17 years with learning and/or attention disorders during the first lockdown.

Methods

We conducted an observational, retrospective study, with data collection from March 1 to May 31, 2021, by means of an anonymous digital qualitative questionnaire completed by parents. The experience of confinement as well as the children's behavior, schooling, and level of progress during rehabilitation were assessed by parents through a Likert scale. Data were compared according to two groups: negative experience and positive or neutral experience of the child's confinement.

Results

A total of 251 questionnaires were collected and 217 were analyzed. Overall, 47 children (21.7 %) reported a negative experience of the confinement period. In total, 164 (75.6 %) of the children had their schooling monitored throughout the period; half of the parents reported a course format unsuited to their child's disorders and a lack of motivation, and 46.5 % a refusal by their child to study. Only 16.8 % of parents reported a regression in their child's rehabilitation. These last three results were significantly associated with a poor experience of confinement (p < 0.05).

Conclusion

The period of confinement was experienced relatively well by the children, and the rehabilitative management seemed to have been minimally impacted during this period. The therapeutic education of children, their parents, and also teachers is a major axis of improvement for better care and support of children with these disorders.

背景:在 COVID-19 大流行期间,法国于 2020 年实施了为期 2 个月的封锁,并采取了许多限制措施。本研究旨在探讨在第一次封锁期间,6-17 岁患有学习障碍和/或注意力障碍的儿童的经历和管理情况:我们在 2021 年 3 月 1 日至 5 月 31 日期间开展了一项观察性、回顾性研究,通过由家长填写的匿名数字定性问卷收集数据。家长们通过李克特量表对禁闭经历以及孩子们的行为、学业和康复过程中的进步程度进行了评估。数据按两组进行比较:消极体验组和积极或中性体验组:共收集了 251 份问卷,对其中 217 份进行了分析。总体而言,有 47 名儿童(21.7%)表示对禁闭期有负面体验。共有 164 名儿童(75.6%)在整个禁闭期间的学习情况受到了监控;半数家长表示课程形式不适合其子女的病症并缺乏学习动力,46.5%的家长表示其子女拒绝学习。只有 16.8% 的家长表示其子女的康复情况有所退步。后三项结果与不良的禁闭经历有明显关联(P < 0.05):儿童在禁闭期间的体验相对较好,康复管理在此期间受到的影响似乎很小。为了更好地照顾和支持患有这些障碍的儿童,对儿童、其家长和教师的治疗教育是一个主要的改进方向。
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引用次数: 0
Prevalence and determinants of behavioral risk factors for noncommunicable diseases among students aged 13–19 years in Turkey 土耳其 13-19 岁学生非传染性疾病行为风险因素的流行率和决定因素。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2024.01.009
Hasan Hüseyin Çam , Fadime Ustuner Top

Objective

The aim of this study was to investigate the prevalence and determinants of behavioral risk factors for noncommunicable diseases (NCDs) among students aged 13–19 years in Turkey.

Methods

This cross-sectional study included a total of 1218 high-school students (mean age = 15.97 years; 57.6 % females) in Turkey. A facilitated survey in the form of a questionnaire was used to gather data. Questions from the Global School-Based Student Health Survey were adapted for the study, and the responses were analyzed using IBM SPSS Statistics 28. Binary logistic regression and Poisson regression were applied to identify the contributing factors.

Results

The prevalence of inadequate fruit and vegetable consumption was 85.5 %, sedentary leisure behavior 80.9 %, physical inactivity 65.3 %, carbonated soft drink consumption 60.4 %, overweight or obesity 38.1 %, current tobacco use 23.1 %, and current alcohol use 14.5 %. The adjusted Poisson regression analysis showed that the odds for having behavioral risk factors were increased by being male, being in grade 11, and attending physical education classes, whereas the odds were reduced by having multiple psychological distress issues, regularly attending school, and having moderate or high parental support.

Conclusion

The prevalence of clustering of modifiable risk factors for NCDs was high among students aged 13–19 years in Turkey, and there is a need to mount effective interventions. Risk factors for these diseases are often preventable: Appropriate health interventions before, during, and after pregnancy as well as throughout childhood and adolescence can significantly reduce their prevalence.

研究目的本研究旨在调查土耳其 13-19 岁学生非传染性疾病 (NCD) 行为风险因素的发生率和决定因素:这项横断面研究共纳入了 1218 名土耳其高中生(平均年龄 = 15.97 岁;57.6% 为女性)。研究采用问卷调查的形式收集数据。本研究改编了 "全球学校学生健康调查 "中的问题,并使用 IBM SPSS Statistics 28 对回答进行了分析。采用二元逻辑回归和泊松回归来确定诱因:结果:水果和蔬菜摄入不足的比例为 85.5%,久坐不动的休闲行为为 80.9%,缺乏运动的比例为 65.3%,饮用碳酸软饮料的比例为 60.4%,超重或肥胖的比例为 38.1%,目前吸烟的比例为 23.1%,目前饮酒的比例为 14.5%。调整后的泊松回归分析表明,男性、11 年级学生和上体育课会增加行为风险因素的几率,而有多种心理困扰问题、经常上学和父母支持度中等或高等会降低几率:结论:在土耳其 13-19 岁的学生中,可改变的非传染性疾病风险因素的群集发生率很高,因此有必要采取有效的干预措施。这些疾病的风险因素通常是可以预防的:在怀孕前、怀孕期间、怀孕后以及整个童年和青少年时期采取适当的健康干预措施,可以大大降低这些疾病的发病率。
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引用次数: 0
Excessive pickle consumption: beware of adrenal crisis 过量食用泡菜:小心肾上腺危机。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2024.02.005
Bellaure Ndoudi-Likoho , Dominique Simon , Arielle Maroni , Stéphane Dauger , Michael Levy

Adrenal insufficiency (AI) is one of the most life-threatening disorders resulting from adrenal cortex dysfunction. Symptoms and signs of AI are often nonspecific, and the diagnosis can be missed and lead to the development of AI with severe hypotension and hypovolemic shock.

We report the case of a 13-year-old child admitted for cardiac arrest following severe hypovolemic shock. The patient initially presented with isolated mild abdominal pain and vomiting together with unexplained hyponatremia. He was discharged after an initial short hospitalization with rehydration but with persistent hyponatremia. After discharge, he had persistent refractory vomiting, finally leading to severe dehydration and extreme asthenia. He was admitted to pediatric intensive care after prolonged hypovolemic cardiac arrest with severe anoxic encephalopathy leading to brain death. After re-interviewing, the child's parents reported that he had experienced polydipsia, a pronounced taste for salt with excessive consumption of pickles lasting for months, and a darkened skin since their last vacation 6 months earlier. A diagnosis of autoimmune Addison's disease was made.

Primary AI is a rare life-threatening disease that can lead to hypovolemic shock. The clinical symptoms and laboratory findings are nonspecific, and the diagnosis should be suspected in the presence of unexplained collapse, hypotension, vomiting, or diarrhea, especially in the case of hyponatremia.

肾上腺功能不全(AI)是肾上腺皮质功能障碍导致的最危及生命的疾病之一。肾上腺功能不全的症状和体征通常没有特异性,容易漏诊,导致肾上腺功能不全发展为严重低血压和低血容量休克。患者最初表现为孤立的轻微腹痛和呕吐,并伴有不明原因的低钠血症。经过短期补液治疗后,他康复出院,但低钠血症仍持续存在。出院后,他出现持续难治性呕吐,最终导致严重脱水和极度虚弱。他因长时间低血容量心脏骤停和严重缺氧性脑病导致脑死亡而被送入儿科重症监护室。经过再次访谈,孩子的父母报告说,自 6 个月前他们最后一次度假以来,孩子出现了多尿、明显的嗜盐症状,并持续数月过量食用咸菜,而且皮肤变黑。原发性阿狄森病是一种罕见的危及生命的疾病,可导致低血容量性休克。临床症状和实验室检查结果均无特异性,如果出现不明原因的虚脱、低血压、呕吐或腹泻,尤其是出现低钠血症时,应怀疑该病的诊断。
{"title":"Excessive pickle consumption: beware of adrenal crisis","authors":"Bellaure Ndoudi-Likoho ,&nbsp;Dominique Simon ,&nbsp;Arielle Maroni ,&nbsp;Stéphane Dauger ,&nbsp;Michael Levy","doi":"10.1016/j.arcped.2024.02.005","DOIUrl":"10.1016/j.arcped.2024.02.005","url":null,"abstract":"<div><p>Adrenal insufficiency (AI) is one of the most life-threatening disorders resulting from adrenal cortex dysfunction. Symptoms and signs of AI are often nonspecific, and the diagnosis can be missed and lead to the development of AI with severe hypotension and hypovolemic shock.</p><p>We report the case of a 13-year-old child admitted for cardiac arrest following severe hypovolemic shock. The patient initially presented with isolated mild abdominal pain and vomiting together with unexplained hyponatremia. He was discharged after an initial short hospitalization with rehydration but with persistent hyponatremia. After discharge, he had persistent refractory vomiting, finally leading to severe dehydration and extreme asthenia. He was admitted to pediatric intensive care after prolonged hypovolemic cardiac arrest with severe anoxic encephalopathy leading to brain death. After re-interviewing, the child's parents reported that he had experienced polydipsia, a pronounced taste for salt with excessive consumption of pickles lasting for months, and a darkened skin since their last vacation 6 months earlier. A diagnosis of autoimmune Addison's disease was made.</p><p>Primary AI is a rare life-threatening disease that can lead to hypovolemic shock. The clinical symptoms and laboratory findings are nonspecific, and the diagnosis should be suspected in the presence of unexplained collapse, hypotension, vomiting, or diarrhea, especially in the case of hyponatremia.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 279-282"},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140777991","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
Effects of the use of a cocoon on the autonomic, motor, and regulatory systems in preterm newborns: Randomized clinical trial 使用蚕茧对早产新生儿自律神经、运动和调节系统的影响:随机临床试验。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2024.01.005
Anni Lima Ribeiro , Mayara Fabiana Pereira Costa , Pedro Ykaro Fialho Silva , Rayane Oliveira Lima , Ruth Batista Bezerra , Ingrid Fonsêca Damasceno Bezerra , Vanessa Braga Torres , Carolina Daniel de Lima Alvarez , Ingrid Guerra Azevedo , Silvana Alves Pereira

Introduction

The wrapping of the newborn in an orthopedic tubular mesh, simulating a cocoon, can allow the infant to regain the feeling of security and stability experienced in the uterus given that the movement of one of the parts of the body exerts tactile and pressure variation in others.

Objective

We aimed to evaluate the influence of an orthopedic tubular mesh, simulating a cocoon, in therapeutic positioning, on the variables of the autonomous, motor, and regulatory systems of preterm newborns.

Methods

A controlled and randomized clinical trial was conducted with preterm newborns positioned in dorsal decubitus and divided into two groups: (a) cocoon – newborns covered with an orthopedic tubular mesh, and (b) control – newborns positioned according to the sector's routine and without the use of an orthopedic mesh. During the follow-up, each newborn was placed in the position for 30 min and was recorded for a total of 2 min, once at the beginning and again at the end of the observation period. Variables related to the autonomous system (heart rate, respiratory rate, and peripheral oxygen saturation), motor system (general movements), and regulatory system (Neonatal Infant Pain Scale) were evaluated before and after the intervention. The videos were evaluated by a researcher blind to the purpose of the study, and the resulting data were analyzed using SPSS.

Results

Of the 40 preterm newborns evaluated (32.5 ± 1.83 weeks), 21 were female, and 20 were allocated to the cocoon group. The variables related to the autonomous, motor, and regulatory systems remained unchanged following the positioning in the cocoon, as compared to the typical positioning employed in the neonatal unit.

Conclusion

The simulation of a cocoon, utilizing an orthopedic tubular mesh, when applied to preterm newborns admitted to a neonatal intensive care unit can contribute to maintaining low levels of stress, without altering variables of the autonomous, motor, and regulatory systems.

引言:将新生儿包裹在模拟蚕茧的矫形管状网中,可以让婴儿重新获得在子宫中体验到的安全感和稳定性,因为身体某个部位的运动会对其他部位产生触觉和压力变化:我们的目的是评估在治疗定位中模拟蚕茧的矫形管状网对早产新生儿自主、运动和调节系统变量的影响:对早产新生儿进行了背卧位的随机对照临床试验,并将其分为两组:(a) 蚕茧组--覆盖矫形管状网的新生儿;(b) 对照组--按照科室常规进行定位但未使用矫形网的新生儿。在随访期间,每个新生儿在体位上放置 30 分钟,共记录 2 分钟,在观察期开始和结束时各记录一次。对干预前后与自主系统(心率、呼吸频率和外周血氧饱和度)、运动系统(一般运动)和调节系统(新生儿疼痛量表)相关的变量进行了评估。由一名对研究目的保密的研究人员对视频进行评估,并使用 SPSS 对所得数据进行分析:在接受评估的 40 名早产新生儿(32.5 ± 1.83 周)中,21 名为女性,20 名被分配到蚕茧组。与新生儿病房采用的典型体位相比,茧中体位后与自主系统、运动系统和调节系统相关的变量保持不变:结论:在新生儿重症监护室对早产新生儿进行蚕茧模拟,利用矫形管状网,有助于维持较低的压力水平,而不会改变自主、运动和调节系统的变量。
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引用次数: 0
Guiding and supporting parents: Practical aspects and pending questions 指导和支持家长:实际问题和悬而未决的问题。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2024.01.006
Alexandra Nuytten , Juliette Andreu-Gallien
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引用次数: 0
Cytogenetic abnormalities and TP53 and RAS gene profiles of childhood acute lymphoblastic leukemia in Morocco 摩洛哥儿童急性淋巴细胞白血病的细胞遗传学异常及 TP53 和 RAS 基因图谱。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2023.11.003
Hanaa Skhoun , Meriem El Fessikh , Mohamed El Alaoui Al Abdallaoui , Mohammed Khattab , Aziza Belkhayat , Zahra Takki Chebihi , Amale Hassani , Rachid Abilkassem , Aomar Agadr , Nadia Dakka , Jamila El Baghdadi

Background

Recurrent genetic abnormalities affecting pivotal signaling pathways are the hallmark of childhood acute lymphoblastic leukemia (ALL). The identification of these aberrations remains clinically important. Therefore, we sought to determine the cytogenetic profile and the mutational status of TP53 and RAS genes among Moroccan childhood cases of ALL.

Methods

In total, 35 patients with childhood ALL were enrolled in the study. The diagnosis and treatment were established in the Pediatric Hematology and Oncology Center at the Children's Hospital of Rabat. Chromosome banding analysis and fluorescence in situ hybridization were used to detect genetic aberrations. Blood samples were screened for TP53 and RAS mutations using Sanger sequencing.

Results

Of the 35 cases, 30 were B-lineage ALL (85.7 %). Moreover, a male predominance was observed. Cytogenetic analysis revealed chromosomal anomalies in 27 cases (77.1 %). The most frequent aberrations were high hyperdiploidy and BCR/ABL rearrangement. Interestingly, we found the rare t(15;16) and the t(8;14), which are uncommon translocations in pediatric B-ALL. The mutational analysis revealed Pro72Arg (rs1042522:C > G) and Arg213Arg (rs1800372:A > G) in TP53. In correlation with cytogenetic data, rs1042522:C > G showed a significant association with the occurrence of chromosomal translocations (p = 0.04). However, no variant was detected in NRAS and KRAS genes.

Conclusion

Our findings emphasize the significance of detecting chromosomal abnormalities as relevant prognostic markers. We also suggest a low occurrence of genetic variants among Moroccan children with ALL.

背景:影响关键信号通路的复发性遗传异常是儿童急性淋巴细胞白血病(ALL)的特征。识别这些畸变仍具有重要的临床意义。因此,我们试图确定摩洛哥儿童 ALL 病例的细胞遗传学特征以及 TP53 和 RAS 基因的突变状态:本研究共纳入 35 例儿童 ALL 患者。诊断和治疗均在拉巴特儿童医院小儿血液与肿瘤中心进行。研究采用染色体带状分析和荧光原位杂交技术检测基因畸变。利用桑格测序法对血液样本进行 TP53 和 RAS 基因突变筛查:35例病例中,30例为B系ALL(85.7%)。此外,男性患者占多数。细胞遗传学分析显示,27例(77.1%)患者染色体异常。最常见的畸变是高度二倍体和BCR/ABL重排。有趣的是,我们发现了罕见的t(15;16)和t(8;14),这在小儿B-ALL中是不常见的易位。突变分析显示,TP53中存在Pro72Arg(rs1042522:C > G)和Arg213Arg(rs1800372:A > G)。与细胞遗传学数据相关,rs1042522:C > G 与染色体易位的发生有显著关联(p = 0.04)。然而,在 NRAS 和 KRAS 基因中未检测到变异:我们的研究结果强调了检测染色体异常作为相关预后标记的重要性。我们还发现,在摩洛哥的 ALL 儿童中,基因变异的发生率较低。
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引用次数: 0
Guidelines of the French Society of Otorhinolaryngology and Head and Neck Surgery (SFORL) for vestibular rehabilitation in children with vestibular dysfunction. A systematic review 法国耳鼻咽喉头颈外科协会(SFORL)关于前庭功能障碍儿童前庭康复治疗的指南。系统综述。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2024.02.006
Pierre Reynard , José Ortega-Solís , Sophie Tronche , Vincent Darrouzet , Hung Thai-Van

Introduction

The consequence of complete or partial uncompensated vestibular dysfunction in children is usually balance disorders, with the risk of falls and increased fatigue, particularly during tasks requiring postural control. The aim of these recommendations is to establish guidelines for vestibular rehabilitation (VR) in children with vestibular impairment.

Material and methods

The guidelines were developed based on a systematic review of the international literature, validated by a multidisciplinary group of French-speaking otorhinolaryngologists, scientists, and physiotherapists. They are classified as grade A, B, C, or expert opinion according to a decreasing level of scientific evidence.

Results

A PubMed search of studies published between January 1990 and December 2021 was carried out using the keywords “vestibular,” “rehabilitation,” and “children”. After filtering and reviewing the articles, a total of 10 publications were included to establish the recommendations.

Conclusion

It is recommended that a vestibular assessment be carried out before VR, including a study of vestibulo-ocular reflex, otolithic function, and postural control. In cases of vestibular dysfunction, physiotherapy treatment is recommended from an early age to train different aspects of postural control, including anticipatory and reactive postural adjustments. VR adapted to the pediatric population is recommended for children whose vestibular dysfunction leads to functional disorders or symptoms of vertigo for those who have suffered head trauma. It is recommended that children with bilateral vestibular impairment be treated using gaze stabilization exercises for adaptation and substitution. Optokinetic stimulation and virtual reality are not recommended for children and young adolescents.

导言:儿童前庭功能完全或部分失调的后果通常是平衡失调,有跌倒的风险,并增加疲劳,特别是在需要姿势控制的任务中。这些建议旨在为前庭功能受损儿童的前庭康复(VR)制定指导方针:这些指南是在对国际文献进行系统回顾的基础上制定的,并由一个由讲法语的耳鼻喉科医生、科学家和物理治疗师组成的多学科小组进行验证。根据科学证据水平的递减,指南分为 A 级、B 级、C 级或专家意见:以 "前庭"、"康复 "和 "儿童 "为关键词,在 PubMed 上搜索了 1990 年 1 月至 2021 年 12 月间发表的研究文章。在对文章进行筛选和审查后,共纳入了 10 篇出版物,以确定建议:建议在进行 VR 前进行前庭评估,包括研究前庭眼反射、耳石功能和姿势控制。对于前庭功能障碍的病例,建议从小进行物理治疗,以训练不同方面的姿势控制能力,包括预测性和反应性姿势调整。对于前庭功能障碍导致功能紊乱或出现眩晕症状的儿童,建议采用适合儿科人群的 VR。建议对患有双侧前庭功能障碍的儿童采用凝视稳定练习进行适应和替代治疗。不建议对儿童和青少年使用光动力刺激和虚拟现实技术。
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引用次数: 0
c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease 首次在三名摩洛哥戈谢病患者中发现 c.754T>A 基因同源突变。
IF 1.8 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2023.11.002
Ghizlane Zouiri, Hajar Rhouda, Yamna Kriouile

Gaucher disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase (GBA) deficiency. There are three subcategories of GD: Type 1 is characterized by the absence of primary central nervous system involvement; type 2 is an acute neuropathic disorder; and type 3 is chronic neuropathic. The correlation between genotype and phenotype is sometimes difficult to establish. The F213I (c.754T>A p.Phe252Ile) mutation was reported to be a unique mutation in Asia. To our knowledge, this is the first time the c.754T>A p.(Phe252Ile) mutation (homozygous state) is reported in a Moroccan population and is associated with GD type 2 (two patients) and GD type 3 (one patient).

戈谢病(GD)是一种由葡萄糖脑苷脂酶(GBA)缺乏引起的溶酶体贮积症。戈谢病有三个亚型:1 型的特点是没有原发性中枢神经系统受累;2 型是急性神经病变性疾病;3 型是慢性神经病变性疾病。基因型与表型之间的相关性有时很难确定。据报道,F213I(c.754T>A p.Phe252Ile)突变是亚洲的一种独特突变。据我们所知,这是第一次在摩洛哥人群中报告 c.754T>A p. (Phe252Ile)突变(同基因状态),并且与 GD 2 型(两名患者)和 GD 3 型(一名患者)有关。
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Archives De Pediatrie
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