Archives De Pediatrie最新文献

{"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}

{"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}

{"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}

{"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}

{"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}

{"title":"Weight changes in overweight children enrolled in a therapeutic education program","authors":"Christine Chollet ,&nbsp;Julie Gauvin ,&nbsp;Didier Rubio ,&nbsp;Corinne Fleury ,&nbsp;Jean-Yves Fatras ,&nbsp;Maïthé Tauber ,&nbsp;Béatrice Jouret","doi":"10.1016/j.arcped.2023.06.013","DOIUrl":"10.1016/j.arcped.2023.06.013","url":null,"abstract":"<div><h3>Background</h3><p>Between 2016 and 2018, overweight children in the Midi-Pyrénées region of France were invited to participate in the <em>Tout sur l'EQuilibre Alimentaire et l'Activité Physique (</em>TEQAAP; All About Balanced Eating and Physical Activity) education program offered by the <em>Structure d'Expertise Régionale Obésité Occitanie</em> (SEROO; Regional Expert Center for Obesity in Occitanie).</p></div><div><h3>Objectives</h3><p>To describe the patient population and evaluate the program efficacy<span>. The primary criterion was the body mass index (BMI) Z-score of the patients at the end of the program compared to the beginning.</span></p></div><div><h3>Methods</h3><p>This retrospective, descriptive, and analytical study included 262 children (mean age: 10 years+10 months; 64% female) between 1 January 2016 and 31 December 2018. Data from 138 patients (52.7%) were accessible and analyzed. The mean study duration was 9 months.</p></div><div><h3>Results</h3><p>The mean BMI at inclusion was 23.3 kg/m² with a mean Z-score of 2.8 ± 0.6; 82% were overweight, 11.1% were obese, and 6.1% were normal weight. Socioeconomic categories were well-balanced (35% high, 28% intermediate, 37% low). At the end of the study, 87% of the children had improved or stabilized their BMI, and Z-scores were lower by 9%±2 (<em>p</em>&lt;0.001).</p></div><div><h3>Conclusion</h3><p>The TEQAAP program led to an improvement in the BMI of overweight children.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292474","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":"The relationship between nutrition and micronutrients in healthy Turkish infants and young children","authors":"Hakan Onur ,&nbsp;Arzu Rahmanalı Onur ,&nbsp;Özgür Aslan","doi":"10.1016/j.arcped.2023.08.013","DOIUrl":"10.1016/j.arcped.2023.08.013","url":null,"abstract":"<div><h3>Background</h3><p><span><span>A healthy diet is important at every stage of life. We aimed to determine the serum vitamin D and iron, </span>folic acid, and vitamin B</span>₁₂ levels in healthy children younger than 48 months and to investigate the relationship between nutrition and micronutrients in children of this age.</p></div><div><h3>Methods</h3><p><span>In this observational study children who presented to the Pediatrics Clinic of our hospital during the period 2015–2022 were included. Vitamin D and other nutritional parameters (serum folate, vitamin B</span>₁₂, iron, ferritin) were evaluated from the study participants' serum samples during the outpatient clinic visit (jaundice check-up, pre-circumcision surgery, etc.).</p></div><div><h3>Results</h3><p>Overall, 766 cases were included in the study. Vitamin D was higher in the group that was fed only breast milk (<em>p</em> = 0.019), and vitamin D insufficiency was statistically higher in the formula group (<em>p</em> = 0.015). Hemoglobin levels were significantly higher in the formula group (<em>p</em> = 0.007). The folic acid level was found to be normal in all infants, and was higher in formula-fed infants (<em>p</em> = 0.012). Vitamin B₁₂ was found to be significantly higher in infants fed with formula (<em>p</em><span> = 0.001). Vitamin D deficiency was most common in infants aged 25–48 months (</span><em>p</em> &lt; 0.001). Similarly, vitamin D insufficiency (12–20 ng/mL) was detected in infants aged between 25 and 48 months (<em>p</em> &lt; 0.001).</p></div><div><h3>Conclusion</h3><p>Micronutrients such as calcium, folic acid, iron, vitamin D, and iodine are critical in early fetal development from pregnancy onward. It is vital to raise awareness of this issue for mothers, starting from pregnancy, and for mothers to feed their babies more carefully in the first years of life.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71523477","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":"Pub — ANNONCE 21X28 NEUROLOGIE DE L'ADOLESCENCE PRINT","authors":"","doi":"10.1016/S0929-693X(23)00257-9","DOIUrl":"10.1016/S0929-693X(23)00257-9","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0929693X23002579/pdfft?md5=cc5fc39e8805a972d73c7f69e10de5ec&pid=1-s2.0-S0929693X23002579-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139095356","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}

{"title":"Childminder knowledge of shaken baby syndrome and the role played by childminders in prevention: An observational study in France","authors":"Valentine Fortin ,&nbsp;Audrey Romero De Avila Ortiz ,&nbsp;Anne-Dominique Marq ,&nbsp;Emmanuelle Mostermans ,&nbsp;Myriam Marichal ,&nbsp;Marion Bailhache","doi":"10.1016/j.arcped.2023.09.006","DOIUrl":"10.1016/j.arcped.2023.09.006","url":null,"abstract":"<div><h3>Background</h3><p>Shaken baby syndrome (SBS) triggers negative short- and long-term outcomes. In France, registered childminders are the principal source of daycare. They may encounter SBS imparted by caregivers or simply excessive infant crying. The aim of the study was to explore childminder knowledge on SBS, the source of information, the responses to infant crying, how childminders perceived their roles in terms of caregiver SBS prevention, and the factors associated with a good knowledge of SBS.</p></div><div><h3>Methods</h3><p>The participants were registered childminders working in the French department of Gironde who had email accounts. This observational study employed an anonymous online questionnaire distributed by the maternal and child health services unit of the Gironde department over 5 weeks from 16 September 2021. Data on childminder characteristics, knowledge on SBS, responses to infant crying, and perceptions of their roles in SBS prevention were collected. The knowledge score ranged from 0 (all wrong answers) to 30 (all correct answers).</p></div><div><h3>Results</h3><p>A total of 779 registered childminders participated; 43.9 % had learnt about SBS during their initial training and 75 % before (other training) or after initial training. The median knowledge score was 19/30 (interquartile range [16; 21]). A higher educational level, previous other professional experience, training on SBS, and responsibility for few children were associated with higher scores. Ten reported that they did not advise caregivers who complained of infant crying.</p></div><div><h3>Conclusion</h3><p>Childminders require training on SBS and SBS prevention.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71523476","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":"A retropharyngeal phlegmon as a presentation of multisystem inflammatory syndrome in children","authors":"Cristiana Costa,&nbsp;Rita Valsassina,&nbsp;Maria João Brito,&nbsp;Ana Margarida Garcia","doi":"10.1016/j.arcped.2023.09.008","DOIUrl":"10.1016/j.arcped.2023.09.008","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292426","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}