Archives De Pediatrie最新文献

{"title":"Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric Neurology","authors":"Stéphanie Fontaine Carbonnel ,&nbsp;Ivana Dabaj ,&nbsp;Camille de Montferrand ,&nbsp;Pascal Rippert ,&nbsp;Vincent Laugel ,&nbsp;Silvana De Lucia ,&nbsp;Claudia Ravelli ,&nbsp;Andreea Seferian ,&nbsp;Juliette Ropars ,&nbsp;Claude Cances","doi":"10.1016/j.arcped.2024.05.003","DOIUrl":"10.1016/j.arcped.2024.05.003","url":null,"abstract":"<div><div>The French Society of Pediatric Neurology and the FILNEMUS network created a working group on corticosteroid therapy in children with Duchenne muscular dystrophy in order to analyze the literature review and current French practices. The aim of this work was to produce guidelines regarding treatment initiation, pre-therapeutic interventions, choice between available compounds, and treatment monitoring (dosage, duration, and discontinuation). The treatment side effects and their management are also detailed: osteoporosis, endocrinological anomaly (growth delay, weight gain, pubertal delay), cataract, arterial hypertension, behavioral disorders, management of immunosuppression and vaccines, and management of gastrointestinal and metabolic complications.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 7","pages":"Pages 410-418"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333018","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":"Quality of life of chronically ill children and adolescents: a cross-sectional study","authors":"Pauline Perreard ,&nbsp;Sarah Castets ,&nbsp;Karine Aouchiche ,&nbsp;Delphine Bernoux ,&nbsp;Daniele Bruno ,&nbsp;Mathilde Cailliez ,&nbsp;Stéphanie Clave ,&nbsp;Marie-Edith. Coste ,&nbsp;Cécile De Leusse ,&nbsp;Pauline Duvant ,&nbsp;Florentine Garaix ,&nbsp;Laetitia Gauche ,&nbsp;Emeline Marquant ,&nbsp;Céline Roman ,&nbsp;Bertrand Roquelaure ,&nbsp;Caroline Rousset Rouvière ,&nbsp;Julia Vergier ,&nbsp;Michel Tsimaratos ,&nbsp;Julie Berbis ,&nbsp;Alexandre Fabre ,&nbsp;Rachel Reynaud","doi":"10.1016/j.arcped.2024.04.007","DOIUrl":"10.1016/j.arcped.2024.04.007","url":null,"abstract":"<div><h3>Objective</h3><div>The aim of this study was to describe the quality of life (QoL) of children with a chronic illness treated in a tertiary multidisciplinary pediatric department in comparison with the general population.</div></div><div><h3>Study design</h3><div>A cross-sectional study was conducted in the tertiary multidisciplinary (nephrology, hepatogastroenterology, endocrinology, diabetology, transplantation) pediatric department of Timone Hospital in Marseille, France. Patients 8–17 years of age with a chronic disease were included during regular follow-up appointments. Medical and sociodemographic variables were obtained from medical records. Self-reported QoL was assessed using the VSPA (<em>Vécu et Santé Perçu de l'Adolescent</em>) questionnaire and parent-reported QoL was assessed using the VSPA questionnaire for parents.</div></div><div><h3>Results</h3><div>A total of 244 patients were included. Overall QoL did not differ significantly from that of the general population. Adolescent patients’ self-reported QoL scores were lower than those of the general population in the domains of physical health and leisure, and parents reported QoL scores for adolescent patients lower than those of the general population for self-esteem and physical health. Adolescents’ self-reported QoL scores were higher than in the general population for relationships with parents, healthcare professionals, and teachers as well as for school achievement. Parents also reported higher QoL scores in these areas for their children.</div></div><div><h3>Conclusion</h3><div>Children and adolescents with a variety of chronic diseases had similar overall QoL scores to the general population but with different QoL profiles; their scores in some domains were higher than those of the general population.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 7","pages":"Pages 439-445"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301749","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":"Vaginal screening for group B streptococcus using PCR in pregnant women with unknown colonization status: Impact on newborn monitoring for early-onset sepsis","authors":"Anne Laure Blanquart ,&nbsp;Fabien Garnier ,&nbsp;Thomas Lauvray ,&nbsp;Perrine Coste Mazeau ,&nbsp;Sophie Martinez ,&nbsp;Cyrille Catalan ,&nbsp;Vincent Guigonis ,&nbsp;Antoine Bedu ,&nbsp;Fabienne Mons ,&nbsp;Laure Ponthier","doi":"10.1016/j.arcped.2024.05.002","DOIUrl":"10.1016/j.arcped.2024.05.002","url":null,"abstract":"<div><h3>Background</h3><div>Early-onset neonatal sepsis represents a diagnostic challenge, as it is a cause of neonatal mortality and morbidity. Guidelines for the prevention of group B streptococcus (GBS) infection recommend that all pregnant women must be screened for GBS carriage at the end of pregnancy, with intrapartum antibiotic prophylaxis being provided for GBS carriers. If vaginal culture is not available, GBS polymerase chain reaction (GBS-PCR) is an alternative option for this type of screening. In our unit, GBS-PCR is performed when pregnant women present to the delivery room with ongoing labor and with no results of culture GBS screening available. The main objective of this study was to evaluate the impact of the results of GBS-PCR on monitoring modifications in newborns of mothers with unknown GBS status. The secondary objectives were to confirm the feasibility of a GBS-PCR-based screening method in everyday practice and to evaluate the impact of GBS-PCR results on the modification of intrapartum antibiotic therapy in pregnant women.</div></div><div><h3>Method</h3><div>A retrospective, single-center, observational study was conducted for 1 year. For dyads with GBS-PCR performed, changes concerning intrapartum antibiotic therapy and the newborn's monitoring were recorded. The feasibility of the method was evaluated by the delay between the GBS-PCR realization and the availability of the result; in addition, the number of GBS-PCR tests that could not be realized were collected.</div></div><div><h3>Results</h3><div>Overall, 60 GBS-PCR samples were tested for 60 pregnant women. Results were obtained for all samples, and the median duration to obtaining the GBS-PCR results was 70 min (60.8–87.2). These results were positive for 11 (18.3 %) women and led to monitoring modifications for two infants. In total, 27 pregnant women (45 %) had modifications in their antibiotic therapy due to the GBS-PCR results.</div></div><div><h3>Conclusion</h3><div>GBS-PCR was quickly available and the results led to changes in maternal antibiotic prophylaxis and in the monitoring level of the newborns.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 7","pages":"Pages 461-466"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301751","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":"Title Page","authors":"","doi":"10.1016/S0929-693X(24)00147-7","DOIUrl":"10.1016/S0929-693X(24)00147-7","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Page i"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142326903","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":"Generalized Arterial Calcification of Infancy (GACI)","authors":"Geneviève Baujat ,&nbsp;Alix Besançon","doi":"10.1016/S0929-693X(24)00153-2","DOIUrl":"10.1016/S0929-693X(24)00153-2","url":null,"abstract":"<div><div>Generalized arterial calcification of infancy (GACI) is an ultra-rare autosomal recessive disorder associated with pathogenic variants in ENPP1, the major gene involved in this condition, and in ABCC6, which is involved in a small fraction of affected individuals. Loss-of-function pathogenic variants of <em>ENPP1</em> and <em>ABCC6</em> lead to perturbations in the PPi/Pi ratio, thereby promoting hydroxyapatite mineralization in peripheral tissues. GACI is initially characterized by an abnormal ectopic mineralization process in arteries and soft tissue. Nearly half of the patients die within the first 6 months of life from cardiovascular complications, hence the poor prognosis associated with an early diagnosis. In recent years, progress has been made in our understanding of the long-term natural history of GACI, the intricate symptoms due to vascular calcifications, the overmineralization of soft tissues, of hypophosphatemia designated as ARHR2, and of the consequences such as undermineralization of the skeleton, but also of the features possibly seen in pseudoxanthoma elasticum (PXE). Indeed, GACI, PXE, and ARHR2 share common pathophysiological pathways and clinical features beyond the vascular calcifications. Treatment options for severe forms of GACI are mostly based on symptomatic management, including the option of starting bisphosphonates early after birth, such as etidronate and pamidronate, analogues of PPi. Follow-up within an expert and coordinated multidisciplinary team includes treatment of arterial hypertension, calcitriol and phosphorus adjustments, hearing aids, and early detection of possible angioid streaks. It is hoped that ongoing basic and clinical research will lead to the development of effective therapies that specifically target the abnormal PPi regulation and the other mechanisms involved in this disorder.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S21-4S26"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327137","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":"Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2)","authors":"Thomas Edouard ,&nbsp;Agnès Linglart","doi":"10.1016/S0929-693X(24)00154-4","DOIUrl":"10.1016/S0929-693X(24)00154-4","url":null,"abstract":"<div><div>Autosomal recessive hypophosphatemic rickets type 2 (ARHR2; MIM #613312) is a very rare disorder caused by biallelic loss-of-function mutations in the <em>ENPP1</em> (ectonucleotide pyrophosphatase/phosphodiesterase 1) gene. ENPP1 deficiency encompasses a spectrum of phenotypes that includes, in addition to ARHR2, generalized arterial calcification of infancy (GACI), ossification of the posterior longitudinal ligament (OPLL), and pseudoxanthoma elasticum. ARHR2 can be found in GACI survivors, but it may also be the first manifestation of ENPP1 deficiency. Although the precise mechanisms are not fully elucidated, patients with GACI and ARHR2 have elevated serum FGF23 levels, leading to renal phosphate wasting and hypophosphatemia. As a result, the clinical and radiological phenotype of ARHR2 patients is very similar to that of patients affected with other forms of hypophosphatemic rickets, such as X-linked hypophosphatemia. Patients show signs of rickets (abnormal mineralization of growth plates in children) and osteomalacia (abnormal bone mineralization in children and adults) of varying severity. Clinical manifestations specific to <em>ENPP1</em> loss-of-function mutations and common to GACI, such as ectopic calcifications (valvular, arterial, or periarticular), deafness, OPLL, and PXE, may also be found. Genetic confirmation of the disease is important so as to ensure that patients receive the appropriate treatment or have the opportunity to participate in clinical trials to evaluate the safety and efficacy of novel and promising recombinant enzyme therapies.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S27-4S32"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327138","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":"Biology of bone mineralization and ectopic calcifications: the same actors for different plays","authors":"Marie-Hélène Lafage-Proust ,&nbsp;David Magne","doi":"10.1016/S0929-693X(24)00151-9","DOIUrl":"10.1016/S0929-693X(24)00151-9","url":null,"abstract":"<div><div>Bone has several crucial functions. It is essential for locomotion and allows our body to stand erect against gravity. A mismatch between the mechanical stresses applied to it and its mechanical resistance leads to fractures. Bone also has numerous endocrine functions. It acts as a reservoir for minerals such as calcium and phosphorus, making it the target of calciotropic hormones that mobilize these minerals, particularly calcium, according to the body's needs. Additionally, bone secretes hormones, notably fibroblast growth factor 23 (FGF23), which regulates urinary excretion of phosphate and the bioavailability of active vitamin D. Bone mineralization is the process that facilitates the organized deposition of minerals in the bone matrix, providing rigidity and appropriate mechanical resistance. This process is compromised in genetically related bone mineralization disorders, such as those causing hypophosphatemia or hypophosphatasia. Conversely, calcification can be pathological, affecting soft tissues like the blood vessels, as seen in generalized arterial calcification of infancy (GACI) or arterial calcification due to CD73 deficiency (ACDC). The aim of this article is to first present the composition and structure of the mineralized bone matrix, to review the current understanding of the molecular mechanisms of mineralization, and finally to discuss the conditions associated with ectopic calcification and the underlying mechanisms.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S3-4S12"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327135","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":"Clinical presentation and burden of ENPP1 deficiency in adults","authors":"Lothar Seefried","doi":"10.1016/S0929-693X(24)00155-6","DOIUrl":"10.1016/S0929-693X(24)00155-6","url":null,"abstract":"<div><div>While the clinical consequences of severe ENPP1 deficiency leading to the rare disorders generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2) are well defined and understood, much less is known about how this evolves into adulthood and how moderate ENPP1 deficiency can first manifest in adulthood. Moreover, growing evidence substantiates an association of genetic variants in the <em>ENPP1</em> gene with a wide range of further clinical manifestations including early-onset osteoporosis, osteoarthritis, and different forms of spinal ligament calcifications, i.e., diffuse idiopathic skeletal hyperostosis (DISH) and ossification of the posterior/anterior longitudinal ligament (OPLL/OALL). Furthermore, conditions with primarily extraskeletal signs and symptoms such as Cole disease, coagulopathies, and metabolic syndrome can seemingly result from <em>ENPP1</em> variants. The causality and the pathophysiology behind these different clinical presentations appear complex and require further research, especially since the coincidence of these different phenotypes is rarely described and available evidence suggests that part of the aforementioned manifestations may result from <em>ENPP1</em> effects beyond the catalytic activity of processing ATP to AMP and inorganic pyrophosphate (PPi). Growing awareness of the additional <em>ENPP1</em>-related manifestations across the lifespan will advance our understanding of this complex condition and help to standardize diagnostic approaches and develop individually tailored treatment concepts.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S33-4S36"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327139","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":"Human genetic diseases of phosphate and pyrophosphate metabolism","authors":"Arnaud Molin","doi":"10.1016/S0929-693X(24)00152-0","DOIUrl":"10.1016/S0929-693X(24)00152-0","url":null,"abstract":"<div><div>In humans, physiological bone and tooth mineralization is a complex cell-mediated process. Prerequisites for proper mineralization include sufficient amounts of minerals (calcium and phosphate [Pi]) to initiate the formation and the growth of apatite crystals and adequate amounts of mineralization inhibitors, such as pyrophosphate (PPi), to prevent uncontrolled extraskeletal mineralization.</div><div>In this review, we provide an overview of the genetics of human disorders of mineralization, focusing on Pi and PPi metabolism and transport diseases, as the Pi/PPi ratio is an important determinant of crystal production in vivo. Variants in genes implicated in the homeostasis of this ratio may lead to a systemic or local increased Pi/PPi ratio, either by increasing the Pi concentration or by decreasing the PPi concentration, resulting in ectopic calcifications; conversely, variants may lead to a decreased Pi/PPi ratio, resulting in defective mineralization.</div><div>Owing to the implication of common pathways and, occasionally, to some extent of clinical overlap, an accurate diagnosis and understanding of the pathophysiology of these disorders may be challenging. However, precise molecular characterization of these conditions not only facilitates their diagnosis, but also helps to gather evidence regarding the pathophysiology and phenotype–genotype correlation to improve medical care and develop innovative therapeutics.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S13-4S20"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327136","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":"ENPP1 deficiency: almost ready for prime time!","authors":"Justine Bacchetta ,&nbsp;Cyril Amouroux","doi":"10.1016/S0929-693X(24)00150-7","DOIUrl":"10.1016/S0929-693X(24)00150-7","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S1-4S2"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327134","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}