Archives De Pediatrie最新文献

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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
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.004
Philippe Boize , Yaëlle Garner , Enora Neaud , Suzanne Borrhomee
{"title":"Parents’ participation in collegial meetings to discuss withholding or withdrawing treatment for their newborn: Working to improve information-sharing","authors":"Philippe Boize ,&nbsp;Yaëlle Garner ,&nbsp;Enora Neaud ,&nbsp;Suzanne Borrhomee","doi":"10.1016/j.arcped.2023.10.004","DOIUrl":"10.1016/j.arcped.2023.10.004","url":null,"abstract":"<div><h3>Aim</h3><p>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.</p></div><div><h3>Material and method</h3><p>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.</p></div><div><h3>Results</h3><p>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.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139543316","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
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
Archives De Pediatrie 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
{"title":"Two-year audit of compliance in the preparation and administration of medications by nursing staff in a mother-and-child university hospital center","authors":"Charlotte Jacolin ,&nbsp;Amélie Monnier ,&nbsp;Élisabeth Farcy ,&nbsp;Suzanne Atkinson ,&nbsp;Véronique Pelchat ,&nbsp;Stéphanie Duval ,&nbsp;Jean-François Bussières","doi":"10.1016/j.arcped.2023.09.011","DOIUrl":"10.1016/j.arcped.2023.09.011","url":null,"abstract":"<div><h3>Objective</h3><p>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<span>. 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.</span></p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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%, <em>p</em> = 0.002), and for six of the 17 criteria for administration of medications, including mentioning possible adverse effects to the patient (41% vs- 30%, <em>p</em> = 0.008).</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139543375","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
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
Archives De Pediatrie 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
{"title":"Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type","authors":"Frédérique Audic ,&nbsp;Sonia M. Dubois ,&nbsp;Julien Durigneux ,&nbsp;Christine Barnerias ,&nbsp;Arnaud Isapof ,&nbsp;Marie-Christine Nougues ,&nbsp;Jean-Baptiste Davion ,&nbsp;Christian Richelme ,&nbsp;Carole Vuillerot ,&nbsp;Laure Legoff ,&nbsp;Pascal Sabouraud ,&nbsp;Claude Cances ,&nbsp;Vincent Laugel ,&nbsp;Juliette Ropars ,&nbsp;Caroline Espil-Taris ,&nbsp;Valérie Trommsdorff ,&nbsp;Anne Pervillé ,&nbsp;Marta Gomez Garcia-de-la-Banda ,&nbsp;Hervé Testard ,&nbsp;Mondher Chouchane ,&nbsp;Isabelle Desguerre","doi":"10.1016/j.arcped.2023.10.009","DOIUrl":"10.1016/j.arcped.2023.10.009","url":null,"abstract":"<div><h3>Background</h3><p><span><span>Spinal muscular atrophy (SMA) is a rare genetic </span>neuromuscular disorder<span> due to an autosomal recessive mutation in the survival motor neuron 1 gene (</span></span><em>SMN1</em><span><span><span>), causing degeneration of the anterior horn cells of the spinal cord and resulting in </span>muscle atrophy<span>. This study aimed to report on the 36-month follow-up of children with SMA treated with nusinersen<span> 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 </span></span></span>intrathecal administration of nusinersen and correlated with SMA type and </span><em>SMN2</em> copy number.</p></div><div><h3>Results</h3><p>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 <em>SMN2</em> copies. No patients with two copies of <em>SMN2</em> can stand alone or walk. Patients bearing three copies of <em>SMN2</em> are more likely to be spared from respiratory, nutritional, and orthopedic complications than patients with two <em>SMN2</em> copies.</p></div><div><h3>Conclusion</h3><p><span>Children with SMA treated with nusinersen continue to make motor acquisitions at 3 years after initiation of treatment. Children with two </span><em>SMN2</em> copies had worse motor, respiratory, and orthopedic outcomes after 3 years of treatment than children with three copies.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138826916","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
Assessment of medication discrepancy, medication appropriateness, and cost analysis among patients with pediatric nephrotic syndrome: An ambispective cohort observational study 评估小儿肾病综合征患者的用药差异、用药适当性和成本分析:一项前瞻性队列观察研究。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.09.015
Deepthi Avvaru , M Santhosh Reddy , Shinaj Azar MS , Shashikala Wali , Mahantesh V Patil , Ramesh Bhandari , M S Ganachari
{"title":"Assessment of medication discrepancy, medication appropriateness, and cost analysis among patients with pediatric nephrotic syndrome: An ambispective cohort observational study","authors":"Deepthi Avvaru ,&nbsp;M Santhosh Reddy ,&nbsp;Shinaj Azar MS ,&nbsp;Shashikala Wali ,&nbsp;Mahantesh V Patil ,&nbsp;Ramesh Bhandari ,&nbsp;M S Ganachari","doi":"10.1016/j.arcped.2023.09.015","DOIUrl":"10.1016/j.arcped.2023.09.015","url":null,"abstract":"<div><h3>Background</h3><p>Nephrotic syndrome<span><span><span> (NS) is a commonly encountered chronic kidney disease in </span>pediatric populations, with South Asian children being at high risk and requiring long-term pharmacological management. Thus, identifying medication discrepancies and evaluating the appropriateness of therapy and its economic burden are vital for inpatient management. The aim of the study was to assess medication reconciliation, medication appropriateness, and </span>cost analysis in NS cases.</span></p></div><div><h3>Methods</h3><p>An ambispective cohort observational study was carried out with 150 NS patients where medication discrepancies were identified retrospectively and prospectively using the best possible medication history and following up patients correspondingly. Further, the Medication Appropriateness Index and cost variation analysis were used to assess the prescribed therapy and cost analysis, respectively.</p></div><div><h3>Results</h3><p>Out of 150 patients with NS included, 67.3% were male and the mean age was 7.2 years. In total, 36.7% medication discrepancies were found at baseline and 6% discrepancies at follow-up. The majority of discrepancies were unintentional and due to dosing error both at baseline and follow-up. Further, in only 2% of the patients was there inappropriately prescribed medication, and the majority of patients spent between INR (Indian Rupees) 500 and 1000.</p></div><div><h3>Conclusion</h3><p>Chronic conditions like NS require continuous monitoring by the specialist pediatric clinical pharmacist, who can contribute significantly by minimizing the medication discrepancies, by assessing the appropriateness of therapy, and lessening the economic burden.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139543259","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
Pediatric popper intoxication: Case report of intoxication in a 3-month-old infant 小儿冰糖中毒:一名 3 个月大婴儿中毒的病例报告。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.08.016
Gauthier Toutain, Charlotte Pons, Sylvie Lamoureux
{"title":"Pediatric popper intoxication: Case report of intoxication in a 3-month-old infant","authors":"Gauthier Toutain,&nbsp;Charlotte Pons,&nbsp;Sylvie Lamoureux","doi":"10.1016/j.arcped.2023.08.016","DOIUrl":"10.1016/j.arcped.2023.08.016","url":null,"abstract":"<div><p>We present the case of a 3-month-old boy who accidentally ingested poppers. The patient presented with refractory hypoxemia<span><span> and compensated circulatory failure associated with severe </span>methemoglobinemia<span>. He made a full recovery after treatment<span><span> with the specific antidote methylene blue. This is the first report of popper poisoning in a child – a rare case of poisoning in </span>pediatrics.</span></span></span></p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139543364","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
Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007–2021) 突尼斯先天性糖基化紊乱综合征筛查的单中心经验:一项为期15年(2007-2021年)的回顾性研究。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.003
Wiem Zidi , Sameh Hadj-Taieb , Ichraf Kraoua , Mongia Hachicha , Hassen Seboui , Kamel Monastiri , Saayda Ben Becher , Ilhem Turki , Haifa Sanhaji , Neji Tebib , Naziha Kaabachi , Moncef Feki , Monia Allal-Elasmi
{"title":"Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007–2021)","authors":"Wiem Zidi ,&nbsp;Sameh Hadj-Taieb ,&nbsp;Ichraf Kraoua ,&nbsp;Mongia Hachicha ,&nbsp;Hassen Seboui ,&nbsp;Kamel Monastiri ,&nbsp;Saayda Ben Becher ,&nbsp;Ilhem Turki ,&nbsp;Haifa Sanhaji ,&nbsp;Neji Tebib ,&nbsp;Naziha Kaabachi ,&nbsp;Moncef Feki ,&nbsp;Monia Allal-Elasmi","doi":"10.1016/j.arcped.2023.10.003","DOIUrl":"10.1016/j.arcped.2023.10.003","url":null,"abstract":"<div><h3>Background</h3><p>We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics.</p></div><div><h3>Methods</h3><p>Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis.</p></div><div><h3>Results</h3><p><span>During the 15-year period, 23 patients were diagnosed with CDGS (19 patients with CDG-Ia, three patients with CDG-IIx, and one patient with CDG-X). These patients included 13 boys and 10 girls aged between 3 months and 13 years, comprising 2.18 % of the total 1055 patients screened. The incidence for CDGS was estimated to be 1:23,720 live births<span><span> (4.21 per 100,000) in Tunisia. The main clinical symptoms related to clinical disease state in newborn and younger patients were </span>psychomotor retardation (91 %), </span></span>cerebellar atrophy<span><span> (91 %), ataxia (61 %), strabismus (48 %), dysmorphic symptoms (52 %), retinitis pigmentosa, cataract (35 %), </span>hypotonia (30 %), and other symptoms.</span></p></div><div><h3>Conclusion</h3><p>In Tunisia, CDGS still remains underdiagnosed or misdiagnosed. The resemblance to other diseases, especially neurological disorders, and physicians’ unawareness of the existence of these diseases are the main reasons for the underdiagnosis. In routine diagnostics, the screening for CDGS by biochemical tests is mandatory to complete the clinical diagnosis.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139543370","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
Dysmenorrhea among 12-year-old teenagers from different socioeconomic backgrounds 来自不同社会经济背景的 12 岁青少年的痛经问题。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.09.018
Coralie Defert , Ianis Cousin , Isabelle Chauvet-Le Marchand , Catherine Burgazzi , Estelle Le Pabic , Alexis P Arnaud
{"title":"Dysmenorrhea among 12-year-old teenagers from different socioeconomic backgrounds","authors":"Coralie Defert ,&nbsp;Ianis Cousin ,&nbsp;Isabelle Chauvet-Le Marchand ,&nbsp;Catherine Burgazzi ,&nbsp;Estelle Le Pabic ,&nbsp;Alexis P Arnaud","doi":"10.1016/j.arcped.2023.09.018","DOIUrl":"10.1016/j.arcped.2023.09.018","url":null,"abstract":"<div><h3>Background</h3><p>The age of menarche has been gradually declining since the end of the 20th century. Few studies have been carried out about dysmenorrhea in Europe and they mainly included girls over the age of 15 years.</p></div><div><h3>Methods</h3><p>We conducted an observational study among sixth-grade schoolgirls (usually 11-12 years) during the 2020 academic year in 72 randomly selected public schools in a French region (approval number #20.94).</p></div><div><h3>Results</h3><p>Among 1712 girls interviewed, 257 (23 %) had reached menarche. Overall, 83 % of these teenagers had dysmenorrhea. Symptoms were reported to occur since the first periods in 59 % of the girls. School absenteeism was positively correlated with severe abdominal pain (<em>p</em> = 0.001). Median age at menarche was 11 years (10.7–11.5). Periods lasted less than 3 days, 3–8 days, and more than 8 days in, respectively, 18 %, 70 %, and 7 % of the girls. Symptoms were significantly more frequent and more severe in the urban group than the rural group (<em>p</em> = 0.005). Symptoms were abdominal pain (70 %), fatigue (48 %), difficulty in concentrating (26 %), headache (25 %), digestive disorders (16 %), and breast discomfort (11 %). Of the girls with dysmenorrhea, 61 % took painkillers; 10 % were uncomfortable despite taking painkillers. Sport exemption was more frequent in the urban group (<em>p</em> = 0.003) and among girls with severe abdominal pain (<em>p</em> = 0.001).</p></div><div><h3>Conclusions</h3><p>The duration of the menstrual cycle was similar between the various socioeconomic groups, but symptoms and ways of coping were significantly different. Dysmenorrhea is definitely an issue that has to be raised with teenagers as soon as menarche occurs or even before that. Easy access to skilled health practitioners should be widespread.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139547743","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
On the study exploring the correlation between sedentary behavior and physical activity in adolescents and children 关于探索青少年和儿童久坐行为与体育活动之间相关性的研究。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.09.009
Mei-Ju Chen, Shu-Hsin Lee, Shiuan-Shinn Lee
{"title":"On the study exploring the correlation between sedentary behavior and physical activity in adolescents and children","authors":"Mei-Ju Chen,&nbsp;Shu-Hsin Lee,&nbsp;Shiuan-Shinn Lee","doi":"10.1016/j.arcped.2023.09.009","DOIUrl":"10.1016/j.arcped.2023.09.009","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139564956","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
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array 首次报告摩洛哥东部的染色体异常:利用单核苷酸多态性阵列鉴定一例新的 13q 部分三体综合征病例。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.002
Manal Elidrissi Errahhali , Mounia Elidrissi Errahhali , Sara Ramdani , Saida Lhousni , Noufissa Benajiba , Maria Rkain , Abdeladim Babakhouya , Aziza Elouali , Ayad Ghanam , Rim Amrani , Sahar Messaoudi , Anass Ayyad , Bouchra Oneib , Ahmed Mimouni , Hanane Saadi , Sanae Allaoui , Meryem Ouarzane , Agnès Guichet , Majida Charif , Redouane Boulouiz , Mohammed Bellaoui
{"title":"First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array","authors":"Manal Elidrissi Errahhali ,&nbsp;Mounia Elidrissi Errahhali ,&nbsp;Sara Ramdani ,&nbsp;Saida Lhousni ,&nbsp;Noufissa Benajiba ,&nbsp;Maria Rkain ,&nbsp;Abdeladim Babakhouya ,&nbsp;Aziza Elouali ,&nbsp;Ayad Ghanam ,&nbsp;Rim Amrani ,&nbsp;Sahar Messaoudi ,&nbsp;Anass Ayyad ,&nbsp;Bouchra Oneib ,&nbsp;Ahmed Mimouni ,&nbsp;Hanane Saadi ,&nbsp;Sanae Allaoui ,&nbsp;Meryem Ouarzane ,&nbsp;Agnès Guichet ,&nbsp;Majida Charif ,&nbsp;Redouane Boulouiz ,&nbsp;Mohammed Bellaoui","doi":"10.1016/j.arcped.2023.10.002","DOIUrl":"10.1016/j.arcped.2023.10.002","url":null,"abstract":"<div><h3>Background</h3><p><span><span>Chromosomal abnormalities are the main cause of </span>birth defects, intellectual disability, and miscarriages. They contribute to significant human morbidity and infant mortality. Here we report for the first time the chromosomal abnormalities encountered in the population of Eastern Morocco. Furthermore, we describe a new case of a </span><em>de novo</em><span> partial trisomy 13q combined with a terminal deletion in an 11-day-old girl.</span></p></div><div><h3>Methods</h3><p>From November 2015 to March 2022, 195 patients from the BRO Biobank who were clinically suspected of having chromosomal abnormalities were referred to the cytogenetics laboratory of the Genetics Unit of the Faculty of Medicine and Pharmacy of Oujda for cytogenetic study. Karyotyping analysis was performed on peripheral blood samples using standard R banding techniques. To identify single-nucleotide polymorphism (SNP) and copy number variants (CNVs), Illumina SNP array was used.</p></div><div><h3>Results</h3><p><span>Among 195 studied cases, 32 (16.4 %) had abnormal karyotypes<span>, of which 12 cases had numerical aberrations while 20 cases had structural aberrations. The most common numerical aberrations were Turner syndrome<span><span> and Down syndrome followed by Edward, Patau, and Klinefelter syndromes. For structural aberrations, translocations were the most common, followed by derivative chromosomes, inversions, deletions, and an addition on chromosome 13 identified in an 11-day-old girl. To further characterize this addition, SNP array was carried out and revealed a 58.8-Mb duplication in region 13q14.3q34 associated with a 1-Mb deletion in region 13q34. Follow-up parental </span>chromosomes analysis showed normal karyotypes for the parents, confirming that this partial trisomy 13q was </span></span></span><em>de novo</em><span>. Comparison of the phenotype associated with this novel duplication on chromosome 13q with those previously reported confirmed the considerable variability in the phenotype of the patients with partial trisomy 13q.</span></p></div><div><h3>Conclusion</h3><p>This study provided the first report on chromosomal abnormalities in Eastern Morocco and it enriched the phenotype spectrum of partial trisomy 13q and further confirmed the genotype–phenotype correlations. Furthermore, these findings justify the need to set up microarray comparative genomic hybridization techniques in Morocco for better genetic diagnosis.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139543348","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
Effect of the Helfer skin tap technique on pain, anxiety, and fear in children undergoing intramuscular injection: An open-label randomized controlled study 海尔弗皮肤拍打技术对接受肌肉注射的儿童的疼痛、焦虑和恐惧的影响:一项开放标签随机对照研究。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.008
Aylin Kurt , Fatma Dinç , Betül Akkoç
{"title":"Effect of the Helfer skin tap technique on pain, anxiety, and fear in children undergoing intramuscular injection: An open-label randomized controlled study","authors":"Aylin Kurt ,&nbsp;Fatma Dinç ,&nbsp;Betül Akkoç","doi":"10.1016/j.arcped.2023.10.008","DOIUrl":"10.1016/j.arcped.2023.10.008","url":null,"abstract":"<div><h3>Background</h3><p>Intramuscular injections, which children frequently experience during hospitalization, are one of the most significant causes of pain. Pain control is an important part of care. Therefore, it is necessary to provide practical methods in the field of nursing care to reduce injection-related pain.</p></div><div><h3>Aim</h3><p>This study aimed to determine the effect of the Helfer skin tap technique on pain, anxiety, and fear in children undergoing intramuscular injection.</p></div><div><h3>Method</h3><p><span>This randomized controlled clinical study (NCT05250804) was conducted in a pediatric </span>emergency department between January and July 2022. A total of 64 children aged 4–10 years were randomly divided into two groups: 32 children in the Helfer skin tap group (HG), and 32 children in the control group (CG). Data were collected using the Wong–Baker FACES Pain Rating Scale, the Child Anxiety Scale–State, and the Child Fear Scale.</p></div><div><h3>Results</h3><p>After the intramuscular injection, children in the HG had significantly lower levels of pain, anxiety, and fear than those in the CG, with mean scores of 3.25±1.50 versus 5.18±1.51, 5.87±1.56, versus 6.23±1.46, and 1.68±0.53 versus 3.15±0.76, respectively (<em>p</em>&lt;0.001 for all scores).</p></div><div><h3>Conclusion</h3><p>The Helfer skin tap technique has positive effects on pain, anxiety, and fear in children during intramuscular injection. This technique can be used by nurses to reduce the pain, anxiety, and fear felt by children receiving an intramuscular injection.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139543266","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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