Croissance et maturation osseuse de l’enfant dans les principaux troubles endocriniens

La prise en charge en orthopédie dento-faciale (ODF) doit prendre en compte le stade de croissance et de maturation osseuse des enfants. Différents paramètres sont donc à étudier tels que les courbes de croissance dans les carnets de santé, le développement pubertaire, mais aussi le stade de maturation osseuse à l’aide de la méthode de maturation des vertèbres cervicales (CVM). Cela permet de déterminer les périodes optimales pour débuter, poursuivre ou arrêter les traitements en ODF. Les troubles endocriniens, tels que les déficits ou excès en hormones de croissance, les dysthyroïdies et les troubles pubertaires, peuvent modifier à la fois la croissance et la maturation osseuse. Le diagnostic et le traitement de ces troubles (hormone de croissance, hormone thyroïdienne, antithyroïdiens de synthèse…) sont donc à prendre en compte lors de la prise en charge ortho- dontique du fait de leur impact sur la croissance maxillo-faciale et la maturation osseuse et dentaire

Activité physique et Diabète de Type 1 chez l’enfant et l’adolescent. Pourquoi ? Comment ?

International audienc

Skeletal growth and maturation in children afflicted with major endocrine disorders

Orthodontic and dentofacial orthopedic strategies depend on both skeletal growth and maturation stages. In children, various parameters such as growth curves shown in the child's health record, pubertal changes, or skeletal maturation (using the vertebral maturation method) need to be evaluated. These elements allow the practitioner to choose the optimal moment to start treatment or to discontinue it. Endocrine disorders such as growth hormone variations, thyroid disorders, and pubertal issues could modify skeletal growth and maturation. Diagnoses and treatment of these pathologies affect maxillofacial growth and development. Thus, these pathologies should be taken into consideration during orthodontic and dentofacial orthopedic treatment in children

Metabolic dysfunction in late-puberty adolescent girls with type 1 diabetes: relationship to physical activity and dietary intakes.

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C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects. The syndrome is caused by mutation of the C2orf37 gene. Here we studied a cohort of seven new cases from three ethnic backgrounds, presenting with the hallmarks of WSS, in an effort to extend the mutational spectrum of this disorder. Genetic analysis revealed a novel mutation in each of the four families investigated, of which three were nonsense mutations and the fourth was a splice site ablation. We also examined a separate collection of 11 cases presenting with deafness and dystonia, two constituents of WSS, but found no pathogenic changes. This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia. The lack of correlation between clinically expressivity of WSS and the site of the eight truncating mutations strongly supports that they are equally null, while the intrafamilial variability argues for an important role of modifiers in this disease

Prise de position de la Société Francophone du Diabète (SFD) sur l’activité physique chez les patients avec un diabète de type 1

International audienc

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients

Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects. The syndrome is caused by mutation of the C2orf37 gene. Here we studied a cohort of seven new cases from three ethnic backgrounds, presenting with the hallmarks of WSS, in an effort to extend the mutational spectrum of this disorder. Genetic analysis revealed a novel mutation in each of the four families investigated, of which three were nonsense mutations and the fourth was a splice site ablation. We also examined a separate collection of 11 cases presenting with deafness and dystonia, two constituents of WSS, but found no pathogenic changes. This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia. The lack of correlation between clinically expressivity of WSS and the site of the eight truncating mutations strongly supports that they are equally null, while the intrafamilial variability argues for an important role of modifiers in this disease. © 2010 John Wiley & Sons A/S

Ketoacidosis at diagnosis of type 1 diabetes in French children and adolescents

International audienceOBJECTIVES: This study aimed to evaluate the frequency of diabetic ketoacidosis (DKA) and its associated factors at the diagnosis of type 1 diabetes (T1D) in French children and adolescents prior to launching a public-health campaign of information to prevent DKA. PATIENTS AND METHODS: Over a 1-year period, 1299 youngsters (aged<15 years) were diagnosed with T1D at 146 paediatric centres in all regions of France. Age, gender, duration of symptoms, patient's pathway to diagnosis, clinical and biological signs, and family history of T1D were collected for each newly diagnosed patient. DKA was defined as pH<7.30 or bicarbonate<15mmol/L, and severe DKA as pH<7.10 or bicarbonate<5mmol/L. RESULTS: At the time of diagnosis, 26% of the children were aged 0-5 years, 34% were 5-10 years and 40% were 10-15 years. The overall prevalence of DKA was 43.9% (0-5 years: 54.2%; 5-10 years: 43.4%; and 10-15 years: 37.1%) and 14.8% for severe DKA (0-5 years: 16.6%; 5-10 years: 14.4%; and 10-15 years: 13.9%;<2 years: 25.3%). Severe DKA was more frequent when the child was hospitalized at the family's behest (26.6%) than when referred by a general practitioner (7.6%) or paediatrician (5.1%; 30.6%, 53.7% and 9.2%, respectively, by patients' age group). The frequency of DKA decreased to 20.1% (severe DKA: 4.4%) in families with a history of T1D. Multivariate analysis showed that age, pathway to diagnosis, duration of polyuria/polydipsia (< 1 week) and family history of T1D were associated with the presence of DKA, while pathway to diagnosis and family history of T1D were associated with severe DKA. CONCLUSION: DKA at the time of T1D diagnosis in children and adolescents is frequent and often severe. Patients' age, pathway to hospitalization and family history of diabetes were the main factors associated with DKA. These data suggest that a public-health campaign to prevent DKA at diagnosis can help reduce the frequency of DKA and also provide baseline data for evaluating the efficacy of such a campaign