Archives De Pediatrie最新文献

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Airway obstruction in two children with congenital central hypoventilation syndrome and review of the literature 两名先天性中枢通气不足综合征患儿的气道阻塞及文献综述。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-04-01 DOI: 10.1016/j.arcped.2023.12.002
Richard Wolff , Benjamin Dudoignon , Jérôme Naudin , Amélia Madani , Christophe Delclaux , Plamen Bokov , Stéphane Dauger
{"title":"Airway obstruction in two children with congenital central hypoventilation syndrome and review of the literature","authors":"Richard Wolff ,&nbsp;Benjamin Dudoignon ,&nbsp;Jérôme Naudin ,&nbsp;Amélia Madani ,&nbsp;Christophe Delclaux ,&nbsp;Plamen Bokov ,&nbsp;Stéphane Dauger","doi":"10.1016/j.arcped.2023.12.002","DOIUrl":"10.1016/j.arcped.2023.12.002","url":null,"abstract":"<div><p>Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disease that is caused by heterozygous mutations in the paired-like homeobox 2B gene (<em>PHOX2B</em>). Madani et al. described an abnormally high degree of not only central apnea but also obstructive and mixed apnea in Phox2b<sup>27Ala/+</sup>newborn mice. Newborns with CCHS must undergo polysomnography for obstructive respiratory events in order to guide the optimal ventilation strategy if oxygen desaturation, bradycardia, and malaise persist under noninvasive ventilation. Newborns and infants with CCHS must be systematically tested for obstructive apnea, especially in cases of inefficient noninvasive ventilation.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140307978","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
Evaluation of vitamin D levels in children and adolescents after the first year of the COVID-19 pandemic: 1-year results of a secondary-level state hospital COVID-19 大流行第一年后对儿童和青少年维生素 D 水平的评估:一家二级国立医院的 1 年结果。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-04-01 DOI: 10.1016/j.arcped.2023.11.001
Fatma Özgüç Çömlek , Ali Toprak , Ahmet Ziya Birbilen , Semine Özdemir Dilek , Fatma Coşkun
{"title":"Evaluation of vitamin D levels in children and adolescents after the first year of the COVID-19 pandemic: 1-year results of a secondary-level state hospital","authors":"Fatma Özgüç Çömlek ,&nbsp;Ali Toprak ,&nbsp;Ahmet Ziya Birbilen ,&nbsp;Semine Özdemir Dilek ,&nbsp;Fatma Coşkun","doi":"10.1016/j.arcped.2023.11.001","DOIUrl":"10.1016/j.arcped.2023.11.001","url":null,"abstract":"<div><h3>Background</h3><p>The COVID-19 pandemic caused a global public health problem with high morbidity and mortality rates. In this study, we aimed to evaluate the 25-hydroxyvitamin D (25(OH)D) status of patients presenting to the Pediatrics Department of Gaziantep Maternity and Children's Hospital in the 1-year period after the onset of the COVID-19 pandemic according to ethnicity, age, and gender.</p></div><div><h3>Method</h3><p>This cross-sectional study included the data of 7640 patients whose 25(OH)D levels were assessed at our hospital between March 2021 and March 2022. Vitamin D levels, age, gender, and the ethnic origin of the patients were retrospectively scanned and recorded from the laboratory results system. Based on the World Health Organization (WHO) classification of vitamin D levels, patients were divided into three groups: &lt;10 ng/mL = vitamin D deficiency; 10–19 ng/mL = vitamin D insufficiency, and 20 ng/mL and over = normal vitamin D status.</p></div><div><h3>Results</h3><p>The mean age of the 7640 patients who presented to the pediatrics department was 7.47 (±5.3) years. Of these patients, 48 % (3665) were male and 52 % (3975) were female. The mean vitamin D level of girls was 18.1 (±15.2) ng/mL, and of boys it was 20.2 (±15.4) ng/mL, with a statistically significant difference (<em>p</em> &lt; 0.001). In total, 21.2 % (1650) of patients had deficient, 43.3 % (3310) of patients had insufficient, and 35.5 % (2710) of patients had normal 25(OH)D levels. Overall, 21.8 % of the patients (1667) were immigrants, and in this group the deficiency was found to be statistically significantly higher at 27.4 % (<em>n</em> = 456; <em>p</em> &lt; 0.001). There was a low negative correlation between the age of the patients and their 25(OH)D levels (<em>r</em>=−0.35; <em>p</em> &lt; 0.001).</p></div><div><h3>Conclusions</h3><p>Vitamin D deficiency remains a serious public health problem. Since the most important production source is exposure to the sun, it must be kept in mind that vitamin D should be supported during lockdown pandemic processes.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140307982","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
Risk factors for unexpected infant death among very premature infants in France 法国早产儿意外死亡的风险因素。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-04-01 DOI: 10.1016/j.arcped.2023.12.003
Anne-Laure Bourneuf , Estelle Le Pabic , Sophie de Visme , Karine Levieux , Patrick Pladys
{"title":"Risk factors for unexpected infant death among very premature infants in France","authors":"Anne-Laure Bourneuf ,&nbsp;Estelle Le Pabic ,&nbsp;Sophie de Visme ,&nbsp;Karine Levieux ,&nbsp;Patrick Pladys","doi":"10.1016/j.arcped.2023.12.003","DOIUrl":"10.1016/j.arcped.2023.12.003","url":null,"abstract":"<div><h3>Background</h3><p>Prematurity is one of the risk factors for sudden unexpected infant death (SUID), a phenomenon that remains poorly explained.</p></div><div><h3>Materials and methods</h3><p>The analysis of specific factors associated with SUID among very premature infants (VPI) was performed through a retrospective review of data collected in the French SUID registry from May 2015 to December 2018. The factors associated with SUID among VPI were compared with those observed among full-term infants (FTI). Results are expressed as means (standard deviation [SD]) or medians (interquartile range [IQR)].</p></div><div><h3>Results</h3><p>During the study period, 719 cases of SUID were included in the registry, 36 (incidence: 0.60 ‰) of which involved VPI (gestational age: 29.2 <span>[2]</span> weeks, 1157 [364]) g] and 313 (0.18 ‰) involved FTI (gestational age: 40 [0.8] weeks, 3298 [452] g). The infants’ postnatal age at the time of death was similar in the two groups: 15.5 (12.2–21.8) vs. 14.5 (7.1–23.4) weeks. We observed low breastfeeding rates and a high proportion of fathers with no occupation or unemployment status among the VPI compared to the FTI group (31% vs. 55 %, <em>p</em> = 0.01 and 32% vs. 13 %, <em>p</em> = 0.05, respectively). Among the VPI, only 52 % were in supine position, and 29 % were lying prone at the time of the SUID (compared to 63 % and 17 %, respectively, in the FTI group).</p></div><div><h3>Conclusion</h3><p>This study confirms prematurity as a risk factor for SUID with no difference in the SUID-specific risk factors studied except for breastfeeding and socioeconomic status of the fathers. VPI and FTI died at similar chronological ages with a high proportion of infants dying in prone position. These results argue for reinforcement of prevention strategies in cases of prematurity.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140307984","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
Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort EAS 建议提出 7 年后的小儿杂合子家族性高胆固醇血症治疗:来自法国大型队列的实际结果。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-04-01 DOI: 10.1016/j.arcped.2024.01.004
Noel Peretti , Alexandre Vimont , Emmanuel Mas , Julie Lemale , Rachel Reynaud , Patrick Tounian , Pierre Poinsot , Liora Restier , François Paillard , Alain Pradignac , Yann Pucheu , Jean-Pierre Rabès , Eric Bruckert , Antonio Gallo , Sophie Béliard
{"title":"Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort","authors":"Noel Peretti ,&nbsp;Alexandre Vimont ,&nbsp;Emmanuel Mas ,&nbsp;Julie Lemale ,&nbsp;Rachel Reynaud ,&nbsp;Patrick Tounian ,&nbsp;Pierre Poinsot ,&nbsp;Liora Restier ,&nbsp;François Paillard ,&nbsp;Alain Pradignac ,&nbsp;Yann Pucheu ,&nbsp;Jean-Pierre Rabès ,&nbsp;Eric Bruckert ,&nbsp;Antonio Gallo ,&nbsp;Sophie Béliard","doi":"10.1016/j.arcped.2024.01.004","DOIUrl":"10.1016/j.arcped.2024.01.004","url":null,"abstract":"<div><h3>Background</h3><p>Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8–10 years of age and a low-density lipoprotein cholesterol (LDL-C) target of &lt;135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking.</p></div><div><h3>Objective</h3><p>Here, we describe treatment patterns and LDL-C goal attainment in pediatric HeFH using longitudinal real-world data.</p></div><div><h3>Methods</h3><p>This was a retrospective and prospective multicenter cohort study (2015–2021) of children with HeFH, diagnosed genetically or clinically, aged &lt;18 years, and followed up in the National French Registry of FH (REFERCHOL). Data on the study population as well as treatment patterns and outcomes are summarized as mean±SD.</p></div><div><h3>Results</h3><p>We analyzed the data of 674 HeFH children (age at last visit: 13.1 ± 3.6 years; 82.0 % ≥10 years; 52.5 % females) who were followed up for a mean of 2.8 ± 3.5 years. Initiation of lipid-lowering therapy was on average at 11.8 ± 3.0 years of age for a duration of 2.5 ± 2.8 years. At the last visit, among patients eligible for treatment (573), 36 % were not treated, 57.1 % received statins alone, 6.4 % statins with ezetimibe, and 0.2 % ezetimibe alone. LDL-C was 266±51 mg/dL before treatment and 147±54 mg/dL at the last visit (−44.7 %) in treated patients. Regarding statins, 3.3 %, 65.1 %, and 31.6 % of patients received high-, moderate-, and low-intensity statins, respectively. Overall, 59 % of children on statin therapy alone and 35.1 % on bitherapy did not achieve the LDL-C goal; fewer patients in the older age group did not reach the treatment goal.</p></div><div><h3>Conclusion</h3><p>Pediatric patients with FH followed up in specialist lipid clinics in France receive late treatment, undertreatment, or suboptimal treatment and half of them do not reach the therapeutic LDL-C goal. Finding a more efficient framework for linking scientific evidence to clinical practice is needed.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140307985","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
Necrotizing pneumonia in children: Report of 25 cases between 2008 and 2018 at a French tertiary care center 儿童坏死性肺炎:法国一家三级医疗中心 2008 年至 2018 年间 25 例病例的报告。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-04-01 DOI: 10.1016/j.arcped.2023.12.004
Manon Cathalau , Marine Michelet , Aurélien Rancé , Guillaume Martin-Blondel , Olivier Abbo , Damien Dubois , Géraldine Labouret , Erick Grouteau , Isabelle Claudet , Lucas Ricco , Léa Roditis , Jean-Michel Mansuy , Sophie Simon , Camille Bréhin
{"title":"Necrotizing pneumonia in children: Report of 25 cases between 2008 and 2018 at a French tertiary care center","authors":"Manon Cathalau ,&nbsp;Marine Michelet ,&nbsp;Aurélien Rancé ,&nbsp;Guillaume Martin-Blondel ,&nbsp;Olivier Abbo ,&nbsp;Damien Dubois ,&nbsp;Géraldine Labouret ,&nbsp;Erick Grouteau ,&nbsp;Isabelle Claudet ,&nbsp;Lucas Ricco ,&nbsp;Léa Roditis ,&nbsp;Jean-Michel Mansuy ,&nbsp;Sophie Simon ,&nbsp;Camille Bréhin","doi":"10.1016/j.arcped.2023.12.004","DOIUrl":"10.1016/j.arcped.2023.12.004","url":null,"abstract":"<div><h3>Background</h3><p>Necrotizing pneumonia (NP) is a serious and rare disease in children. Pediatric data on NP are limited and the impact of the 13-valent pneumococcal conjugate vaccine has been very poorly evaluated.</p></div><div><h3>Patients and methods</h3><p>We conducted a retrospective study at Toulouse University Hospital between 2008 and 2018. Children who presented with thin-walled cavities in the areas of parenchymal consolidation on imaging were included in the study.</p></div><div><h3>Results</h3><p>The incidence of NP did not decrease during this period. Bacterial identification occurred in 56% of cases (14/25) and included six cases of <em>Streptococcus pneumoniae</em>, five of <em>Staphylococcus aureus</em>, two of <em>Streptococcus pyogenes</em>, and one of <em>Streptococcus viridans. Streptococcus pneumoniae</em> NP are more frequently associated with empyema/parapneumonic effusion compared to <em>S. aureus</em> NP (<em>p</em> = 0.02). Patients with <em>S. pyogenes</em> NP more often required volume expansion than did <em>S. pneumoniae</em> cases (<em>p</em> = 0.03). When comparing children born before and after implementation of the 13-valent pneumococcal conjugate vaccine, we identified a relative modification of the bacterial epidemiology, with an increase in the proportion of <em>S. pyogenes</em> NP and <em>S. aureus</em> NP and a decrease in the proportion of NP caused by <em>S. pneumoniae</em>.</p></div><div><h3>Conclusion</h3><p>Future studies are needed to assess the epidemiology of NP in children. Continued surveillance of identified pneumococcal serotypes is essential to document epidemiological changes in the coming years.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133348","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
Analysis of risk factors for depression and anxiety related to the degree of asthma control in children according to gender. 根据性别分析与儿童哮喘控制程度相关的抑郁和焦虑风险因素。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-15 DOI: 10.1016/j.arcped.2023.09.017
Ning Wang, Long Zhao, Cuicui Liu, Xiaolan Shi, Jing Wang, Shouzhen Wu
{"title":"Analysis of risk factors for depression and anxiety related to the degree of asthma control in children according to gender.","authors":"Ning Wang, Long Zhao, Cuicui Liu, Xiaolan Shi, Jing Wang, Shouzhen Wu","doi":"10.1016/j.arcped.2023.09.017","DOIUrl":"https://doi.org/10.1016/j.arcped.2023.09.017","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of the study was to investigate whether risk factors involved in the degree of asthma control were the same for children of both genders.</p><p><strong>Methods: </strong>This cross-sectional study collected relevant data from 320 children with asthma attending the respiratory asthma clinic at a local children's hospital. All the patients passed the Asthma Control Test (ACT) or the Childhood Asthma Control Test (cACT), lung-function-related tests, the Children's Depression Inventory (CDI), the Screening Scale for Anxiety-Related Mood Disorders (SCARED), and the Family Personal Information Questionnaire.</p><p><strong>Results: </strong>The study found that gender (p=0.034) was a risk factor for poor asthma control and that girls (odds ratio [OR]=1.669, p=0.042) were more likely to have poor asthma control than boys. Univariate logistic regression analysis found that severe wasting (OR=0.075, p=0.021), depression (OR=43. 550, p<0.001), anxiety (OR=4.769, p=0.036), FEV1% (OR=0.970, p=0.043), FEV1/FVC% (OR=0.921, p=0. 008), and PEF% (OR=0.961, p=0.012) were risk factors for poor asthma control in girls.</p><p><strong>Conclusion: </strong>The risk factors for the degree of asthma control in children with asthma appeared to vary according to gender.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139747832","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
Medical management of vegetarian and vegan children in France: Medical practices and parents’ perceptions 法国素食和纯素儿童的医疗管理:医疗实践和家长的看法
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.006
Marion Barbier , Irène Boisseau , Julie Lemale , Marie Chevallier , Guillaume Mortamet
{"title":"Medical management of vegetarian and vegan children in France: Medical practices and parents’ perceptions","authors":"Marion Barbier ,&nbsp;Irène Boisseau ,&nbsp;Julie Lemale ,&nbsp;Marie Chevallier ,&nbsp;Guillaume Mortamet","doi":"10.1016/j.arcped.2023.10.006","DOIUrl":"10.1016/j.arcped.2023.10.006","url":null,"abstract":"<div><h3>Objectives</h3><p>Despite a significant increase in the prevalence of vegetarianism and veganism<span> in children in France, data on the care pathway of these children are scarce. This study aimed to describe the characteristics of the medical follow-up of vegan/vegetarian children, to evaluate the medical practices, and to analyze the perceptions of parents.</span></p></div><div><h3>Materials and methods</h3><p>This was a double cross-sectional survey. One questionnaire was sent to parents of vegetarian/vegan children, and the other to French doctors (pediatricians or general practitioners).</p></div><div><h3>Results</h3><p>A total of 241 vegetarian families responded to the study and nearly one quarter (<em>n</em> = 67, 28 %) were unsatisfied with the medical follow-up of their child. Parents considered that their child's diet was responsible for refusing a medical consultation in 11 % (<em>n</em> = 27) of cases. In almost one third of cases (<em>n</em> = 70, 29 %), participants declared that the doctor was unaware of their child's diet. Vitamin B<sub>12</sub> supplementation was commonly used (<em>n</em> = 195, 81 %), mainly by self-medication, and laboratory testing was performed for 30 % (<em>n</em> = 72) of children. Regarding the questionnaire for doctors, most of the participants (<em>n</em> = 318/501, 63 %) reported having vegetarian/vegan children in their cohort. A few of them (<em>n</em> = 70, 14 %) declared they did not systematically screen for meat and fish consumption during consultations. Doctors caring for vegetarian/vegan children had 27 % correct answers to questions regarding the nutrition guidelines. Overall, 36 % of them (<em>n</em> = 117) systematically referred the child to a specialist.</p></div><div><h3>Conclusion</h3><p>The medical follow-up of vegetarian/vegan children in France is very heterogeneous. Parents and doctors alike stressed the need to develop reliable sources of knowledge. A systematic screening of the diet and a referral to a specialist could help to improve the management of vegetarian/vegan children.</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":"138826917","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
Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2 新生儿盐耗损综合征:由 CYP11B2 的一个新剪接变体引起的醛固酮合成酶缺乏症。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.007
Rémy Gerard , Clément Sauvestre , Pascal Barat , Jérôme Harambat , Clément Janot , Delphine Mallet , Florence Roucher-Boulez , Lise Allard
{"title":"Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2","authors":"Rémy Gerard ,&nbsp;Clément Sauvestre ,&nbsp;Pascal Barat ,&nbsp;Jérôme Harambat ,&nbsp;Clément Janot ,&nbsp;Delphine Mallet ,&nbsp;Florence Roucher-Boulez ,&nbsp;Lise Allard","doi":"10.1016/j.arcped.2023.10.007","DOIUrl":"10.1016/j.arcped.2023.10.007","url":null,"abstract":"<div><p><span><span><span>Aldosterone synthase deficiency (ASD) is a rare </span>autosomal recessive disorder<span> involving isolated aldosterone deficiency<span> without any compromise of other adrenal hormones. This condition manifests mainly in the </span></span></span>neonatal period<span> and in infants as a salt wasting syndrome with vomiting and failure to thrive. Due to its potentially life-threatening effects, ASD requires a careful and early diagnosis based on appropriate hormonal investigations in order to initiate adequate management: rehydration as well as salt and </span></span>fludrocortisone<span> supplementation. Genetic analysis of the CYP11B2 gene will confirm ASD in most cases. We report the case of a newborn with a typical clinical presentation associated with some uncommon phenotypic features (hyperhidrosis, liver injury). Furthermore, our patient carries a new CYP11B2 splicing variant to be added to the approximately 60 pathogenic or likely pathogenic variants already reported.</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":"139543314","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
Body composition and resting energy expenditure in a group of children with achondroplasia 一组软骨发育不全儿童的身体成分和静息能量消耗:预测模型在治疗肥胖症中的效果
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.005
Laura Garde-Etayo , Paula Camelia Trandafir , Céline Saint-Laurent , María Dolores Ugarte , Ana María Insausti Serrano
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引用次数: 0
Physical activity and sedentary behaviors in Polish children and adolescents 波兰儿童和青少年的体育活动和久坐行为。
IF 1.8 4区 医学
Archives De Pediatrie Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.07.009
Sara Górna, Katarzyna Pazdro-Zastawny, Alicja Basiak-Rasała, Joanna Krajewska, Mateusz Kolator, Ireneusz Cichy, Andrzej Rokita, Tomasz Zatoński
{"title":"Physical activity and sedentary behaviors in Polish children and adolescents","authors":"Sara Górna,&nbsp;Katarzyna Pazdro-Zastawny,&nbsp;Alicja Basiak-Rasała,&nbsp;Joanna Krajewska,&nbsp;Mateusz Kolator,&nbsp;Ireneusz Cichy,&nbsp;Andrzej Rokita,&nbsp;Tomasz Zatoński","doi":"10.1016/j.arcped.2023.07.009","DOIUrl":"10.1016/j.arcped.2023.07.009","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":"72016261","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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