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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
Archives De Pediatrie 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
{"title":"Evaluation of safety of fluoxetine for cerebellar mutism syndrome in children after posterior fossa surgery","authors":"Roxane Varengue ,&nbsp;Matthieu Delion ,&nbsp;Emilie De Carli ,&nbsp;Luc Le Fournier ,&nbsp;Julien Durigneux ,&nbsp;Mickael Dinomais ,&nbsp;Patrick Van Bogaert","doi":"10.1016/j.arcped.2023.10.010","DOIUrl":"10.1016/j.arcped.2023.10.010","url":null,"abstract":"<div><h3>Background</h3><p>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.</p></div><div><h3>Materials and methods</h3><p>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.</p></div><div><h3>Results</h3><p>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(<em>p</em> = 0.22). However, the treatment was initiated after recovery from complete mutism in half of the treated patients.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 231-237"},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133347","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
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
Archives De Pediatrie Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2023.10.011
Chloé Pacteau , Lawrence Nadin , Floriane Colin Mette
{"title":"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","authors":"Chloé Pacteau ,&nbsp;Lawrence Nadin ,&nbsp;Floriane Colin Mette","doi":"10.1016/j.arcped.2023.10.011","DOIUrl":"10.1016/j.arcped.2023.10.011","url":null,"abstract":"<div><h3>Background</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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 (<em>p</em> &lt; 0.05).</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 224-230"},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140307983","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
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
Archives De Pediatrie Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2024.02.005
Bellaure Ndoudi-Likoho , Dominique Simon , Arielle Maroni , Stéphane Dauger , Michael Levy
{"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
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
Archives De Pediatrie Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2024.01.009
Hasan Hüseyin Çam , Fadime Ustuner Top
{"title":"Prevalence and determinants of behavioral risk factors for noncommunicable diseases among students aged 13–19 years in Turkey","authors":"Hasan Hüseyin Çam ,&nbsp;Fadime Ustuner Top","doi":"10.1016/j.arcped.2024.01.009","DOIUrl":"10.1016/j.arcped.2024.01.009","url":null,"abstract":"<div><h3>Objective</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 270-276"},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856787","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
Archives De Pediatrie 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
{"title":"Effects of the use of a cocoon on the autonomic, motor, and regulatory systems in preterm newborns: Randomized clinical trial","authors":"Anni Lima Ribeiro ,&nbsp;Mayara Fabiana Pereira Costa ,&nbsp;Pedro Ykaro Fialho Silva ,&nbsp;Rayane Oliveira Lima ,&nbsp;Ruth Batista Bezerra ,&nbsp;Ingrid Fonsêca Damasceno Bezerra ,&nbsp;Vanessa Braga Torres ,&nbsp;Carolina Daniel de Lima Alvarez ,&nbsp;Ingrid Guerra Azevedo ,&nbsp;Silvana Alves Pereira","doi":"10.1016/j.arcped.2024.01.005","DOIUrl":"10.1016/j.arcped.2024.01.005","url":null,"abstract":"<div><h3>Introduction</h3><p>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.</p></div><div><h3>Objective</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 250-255"},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140307981","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
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
Archives De Pediatrie Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2024.01.006
Alexandra Nuytten , Juliette Andreu-Gallien
{"title":"Guiding and supporting parents: Practical aspects and pending questions","authors":"Alexandra Nuytten ,&nbsp;Juliette Andreu-Gallien","doi":"10.1016/j.arcped.2024.01.006","DOIUrl":"10.1016/j.arcped.2024.01.006","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 283-284"},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140797213","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
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
Archives De Pediatrie 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
{"title":"Cytogenetic abnormalities and TP53 and RAS gene profiles of childhood acute lymphoblastic leukemia in Morocco","authors":"Hanaa Skhoun ,&nbsp;Meriem El Fessikh ,&nbsp;Mohamed El Alaoui Al Abdallaoui ,&nbsp;Mohammed Khattab ,&nbsp;Aziza Belkhayat ,&nbsp;Zahra Takki Chebihi ,&nbsp;Amale Hassani ,&nbsp;Rachid Abilkassem ,&nbsp;Aomar Agadr ,&nbsp;Nadia Dakka ,&nbsp;Jamila El Baghdadi","doi":"10.1016/j.arcped.2023.11.003","DOIUrl":"10.1016/j.arcped.2023.11.003","url":null,"abstract":"<div><h3>Background</h3><p>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 <em>TP53</em> and <em>RAS</em> genes among Moroccan childhood cases of ALL.</p></div><div><h3>Methods</h3><p>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 <em>TP53</em> and <em>RAS</em> mutations using Sanger sequencing.</p></div><div><h3>Results</h3><p>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 &gt; G) and Arg213Arg (rs1800372:<em>A</em> &gt; <em>G</em>) in <em>TP53</em>. In correlation with cytogenetic data, rs1042522:C &gt; G showed a significant association with the occurrence of chromosomal translocations (<em>p</em> = 0.04). However, no variant was detected in <em>NRAS</em> and <em>KRAS</em> genes.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 238-244"},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140855665","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
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
Archives De Pediatrie 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
{"title":"Guidelines of the French Society of Otorhinolaryngology and Head and Neck Surgery (SFORL) for vestibular rehabilitation in children with vestibular dysfunction. A systematic review","authors":"Pierre Reynard ,&nbsp;José Ortega-Solís ,&nbsp;Sophie Tronche ,&nbsp;Vincent Darrouzet ,&nbsp;Hung Thai-Van","doi":"10.1016/j.arcped.2024.02.006","DOIUrl":"10.1016/j.arcped.2024.02.006","url":null,"abstract":"<div><h3>Introduction</h3><p>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.</p></div><div><h3>Material and methods</h3><p>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.</p></div><div><h3>Results</h3><p>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.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 217-223"},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0929693X24000617/pdfft?md5=3a23743538dfb6ec1fd2e31a6928f634&pid=1-s2.0-S0929693X24000617-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140864500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Archives De Pediatrie Pub Date : 2024-05-01 DOI: 10.1016/j.arcped.2023.11.002
Ghizlane Zouiri, Hajar Rhouda, Yamna Kriouile
{"title":"c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease","authors":"Ghizlane Zouiri,&nbsp;Hajar Rhouda,&nbsp;Yamna Kriouile","doi":"10.1016/j.arcped.2023.11.002","DOIUrl":"10.1016/j.arcped.2023.11.002","url":null,"abstract":"<div><p>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&gt;<em>A</em> p.Phe252Ile) mutation was reported to be a unique mutation in Asia. To our knowledge, this is the first time the c.754T&gt;<em>A</em> 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).</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 277-278"},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133345","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
Low SARS-CoV-2 prevalence in asymptomatic children during the first year of the pandemic: A French retrospective study 大流行第一年无症状儿童的 SARS-CoV-2 感染率较低:法国的一项回顾性研究
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-04-01 DOI: 10.1016/j.arcped.2023.09.019
Béatrice De Pracontal , Fleur Lorton , Thomas Drumel , Marianne Coste-Burel , Elise Launay , Christèle Gras Le Guen
{"title":"Low SARS-CoV-2 prevalence in asymptomatic children during the first year of the pandemic: A French retrospective study","authors":"Béatrice De Pracontal ,&nbsp;Fleur Lorton ,&nbsp;Thomas Drumel ,&nbsp;Marianne Coste-Burel ,&nbsp;Elise Launay ,&nbsp;Christèle Gras Le Guen","doi":"10.1016/j.arcped.2023.09.019","DOIUrl":"10.1016/j.arcped.2023.09.019","url":null,"abstract":"<div><h3>Background</h3><p>Since the beginning of the pandemic, children's role in the transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been debated. We aimed to describe the prevalence of SARS-CoV-2 in asymptomatic children undergoing institutional systematic screening.</p></div><div><h3>Methods</h3><p>From 2020 to 2021, this retrospective study in a French university hospital included consecutive asymptomatic children routinely screened for SARS-CoV-2 infection by polymerase chain reaction (PCR) assay before surgery.</p></div><div><h3>Results</h3><p>Among the 816 test samples, the prevalence of positive PCR results was 0.49 % (95 % CI: 0.01–0.97, <em>n</em> = 4); half of the cases involved close contacts with an adult case.</p></div><div><h3>Conclusion</h3><p>These results support the low prevalence of SARS-CoV-2 in asymptomatic children during the first pandemic periods in France.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 3","pages":"Pages 176-178"},"PeriodicalIF":1.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139704057","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
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