Archives De Pediatrie最新文献

{"title":"Short-term azithromycin use is associated with QTc interval prolongation in children with cystic fibrosis","authors":"Asım Enhoş ,&nbsp;Hazar Doğuş Kus ,&nbsp;Can Yilmaz Yozgat ,&nbsp;Erkan Cakır ,&nbsp;Hakan Yazan ,&nbsp;Ahmet Berk Erol ,&nbsp;Ufuk Erenberk ,&nbsp;Yilmaz Yozgat","doi":"10.1016/j.arcped.2024.02.004","DOIUrl":"10.1016/j.arcped.2024.02.004","url":null,"abstract":"<div><h3>Background</h3><p>Azithromycin is used for children with cystic fibrosis (CF) for its immunomodulatory and anti-inflammatory action. This study investigated the short-term alterations in QTc interval associated with azithromycin prophylaxis in pediatric patients with CF.</p></div><div><h3>Methods</h3><p>This study included 121 patients with mild CF, of whom 76 received azithromycin (patient group) and 45 did not receive azithromycin (control group). The patient and control groups were categorized according to age as under 12 years of age and over 12 years of age. The first presentation measured all the patient and control groups at basic QTc time intervals. The QTc intervals of all patients were then remeasured systemically at 1, 3, and 6 months. Age categories and QTc intervals that were calculated at each month in the patient and control groups were compared statistically.</p></div><div><h3>Results</h3><p>A statistically significant difference was detected in the patient group between the initial QTc interval time and the electrocardiogram (ECG) findings in the first and third months after prophylaxis treatment (<em>p</em> &lt; 0.001; <em>p</em> = 0.01). However, no statistically significant difference was detected in the sixth month (<em>p</em> &gt; 0.05) in all groups. Almost all of the children's QTc intervals were within normal range and within the safety zone (under 0.44 s). No statistically significant difference was detected in the control group between the initial ECG and the QTc intervals measured at 1, 3, and 6 months.</p></div><div><h3>Conclusion</h3><p>Short-term use of azithromycin prophylaxis in pediatric patients with mild CF slightly increased the QTc interval in the first and third months of follow-up. Nevertheless, all QTc interval changes fell within the safety zone. Notably, 1 month of follow-up treatment should be performed to check for any alteration in the QTc interval. If increased QTc interval duration is not detected in the first month, azithromycin prophylaxis can be safely prescribed.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140786287","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}

{"title":"Persistent and symptomatic periodic breathing beyond the neonatal period in full-term infants: A case series","authors":"Océane Cheyrou-Lagrèze ,&nbsp;Eglantine Hullo ,&nbsp;Jessica Taytard ,&nbsp;Lisa Giovannini-Chami ,&nbsp;Patricia Franco ,&nbsp;Iulia-Cristina Ioan ,&nbsp;Laurianne Coutier","doi":"10.1016/j.arcped.2024.01.007","DOIUrl":"10.1016/j.arcped.2024.01.007","url":null,"abstract":"<div><h3>Introduction</h3><p>Periodic breathing (PB) is considered physiological in the neonatal period and usually disappears in the first months of life. There are few data available on persistent PB after the neonatal period. The objective of this study was to characterize infants born at term with persistent PB after the age of 1 month through polysomnography (PSG) performed during symptoms.</p></div><div><h3>Methods</h3><p>This retrospective case series included infants born at term between 2012 and 2021, without an underlying disease, who presented with symptoms of persistent PB during a PSG. Persistent PB was defined as more than 1 % of total sleep time (TST) of PB after 1 month of life, and PB was defined as a succession of at least three episodes of central apnea lasting more than 3 s and separated by less than 20 s of normal breathing.</p></div><div><h3>Results</h3><p>A total of 10 infants born at term were included. They underwent PSG for brief resolved unexplained events, desaturation, pauses in breathing, cyanosis, and/or signs of respiratory distress. The percentage of TST spent with PB was 18.1 % before 3 months of age (<em>n</em> = 7), and 4.7 % between 3 and 6 months of age (<em>n</em> = 10). During the first PSG, ≥3 % of desaturation events were observed in 77–100 % of the PB episodes. At the first PSG, nine of the 10 infants had an obstructive apnea–hypopnea index of &gt;10/h and five of 10 infants had a central apnea index of &gt;5/h. Gastroesophageal reflux (GER) was suspected in eight infants. All infants showed improvement in the initial symptoms during the first year of life.</p></div><div><h3>Conclusion</h3><p>This study presents cases of persistent and symptomatic PB after 1 month of life in infants born at term. The interesting finding was the presence of obstructive sleep apnea syndrome and/or central apnea syndrome in the majority of children, along with GER.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140771798","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}

{"title":"Primary lymphedema of childhood: Treatment results from a tertiary center","authors":"Ece Cinar ,&nbsp;Benil Nesli Ata ,&nbsp;Sibel Eyigor","doi":"10.1016/j.arcped.2024.02.002","DOIUrl":"10.1016/j.arcped.2024.02.002","url":null,"abstract":"<div><h3>Background</h3><p>Primary lymphedema is the most common form of lymphedema presenting in the pediatric age group. Childhood lymphedema is caused by hereditary or congenital malformations in the lymphatic system that can manifest at birth or during childhood or adolescence.</p></div><div><h3>Objectives</h3><p>Complex decongestive therapy (CDT) is the cornerstone of conservative management of lymphedema in both adult and pediatric lymphedema patients, although pediatric treatment guidelines are still lacking. In this study we aimed to assess the effects of CDT on pediatric patients.</p></div><div><h3>Methods</h3><p>Childhood lymphedema patients who presented to the lymphedema rehabilitation unit of our university hospital before the age of 18 and who were treated for lymphedema with CDT were included in the study. Data on patient demographics, disease characteristics, and treatment duration were recorded. Limb volumes were calculated from patient measurements using a spreadsheet software (Limb Volume Calculator) that utilized the geometric formula for volume of a truncated cone. Measurements were taken before treatment and also weekly after initiation of treatment. Percent excess volume (PEV) was used instead of absolute volume difference to define the severity of lymphedema.</p></div><div><h3>Results</h3><p>A total of 34 limbs from 24 patients were included in the study. The mean age of the patients was 10.1 ± 4.9 years and 14 (58.3 %) were female. Most patients had one affected limb but 16 had bilateral lower-extremity lymphedema. The mean duration of treatment with CDT was 153.6 ± 155.8 days. Excess volume percentage change between pre-treatment PEV (602.8 ± 713.8) and post-treatment PEV (514.6 ± 699.1) was found to be statistically significant (<em>p</em> &lt; 0.05).</p></div><div><h3>Conclusion</h3><p>Pediatric lymphedema management is a difficult and less well studied area in lymphedema rehabilitation. Our data support the use of CDT, which is a safe and effective treatment method, for pediatric lymphedema patients.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140770423","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}

{"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":null,"pages":null},"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}

{"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":null,"pages":null},"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}

{"title":"Removal of airway foreign body using flexible bronchoscopy in children","authors":"Sabrine Louhaichi ,&nbsp;Nouha Boubaker ,&nbsp;Besma Hamdi ,&nbsp;Ella Nemsi ,&nbsp;Sonia Ouerghi ,&nbsp;Taher Mestiri ,&nbsp;Adel Marghli ,&nbsp;Jamel Ammar ,&nbsp;Agnès Hamzaoui","doi":"10.1016/j.arcped.2024.01.008","DOIUrl":"10.1016/j.arcped.2024.01.008","url":null,"abstract":"<div><h3>Background</h3><p>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.</p></div><div><h3>Patients and methods</h3><p>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.</p></div><div><h3>Results</h3><p>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.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140767734","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}

{"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":null,"pages":null},"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}

{"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":null,"pages":null},"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}

{"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":null,"pages":null},"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}

{"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":null,"pages":null},"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}