La maladie veino-occlusive pulmonaire (MVOP) est une cause rare d’hypertension pulmonaire. On distingue des formes héritables et des formes sporadiques. Une hypoxémie, une altération importante de la diffusion du monoxyde de carbone et la présence d’une hypertension pulmonaire pré-capillaire sont des éléments en faveur d’une MVOP. La tomodensitométrie thoracique et la réponse au traitement pharmacologique permettent d’étayer ce diagnostic. Il s’agit de l’observation d’un homme de 52 ans, d’une fratrie dont trois sont atteints de MVOP. Ce sujet a été admis pour dyspnée, lipothymies et palpitations. Le cathétérisme cardiaque droit a mis en évidence une hypertension pulmonaire pré-capillaire. Une recherche de mutation EIF2AK4 a été réalisée, confirmant le diagnostic de MVOP héritable déjà connue chez un des frères du patient. Malgré un diagnostic similaire chez 3 frères et un suivi proposé 11 ans avant le diagnostic, l’hypertension pulmonaire est apparue en quelques semaines et a engendré un tableau d’emblée sévère. La surveillance fortement préconisée au patient n’a pas permis d’établir un diagnostic précoce. Ce cas clinique montre que l’identification de facteurs prédictifs de l’apparition d’une MVOP héritable à un stade pré-symptomatique est un enjeu de recherche clinique important.Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary hypertension. Heritable and sporadic forms have been distinguished. Hypoxemia, profound reduction in the diffusion of carbon monoxide and haemodynamic confirmation of pre-capillary pulmonary hypertension are the major diagnostic criteria. Thoracic CT scanning and a response to pharmaceutical therapy provide additional information to confirm the diagnosis. A 52-year-old patient, three of whose siblings had pulmonary hypertension, was admitted with dyspnoea, malaise and palpitations. Right heart catheterisation confirmed pre-capillary pulmonary hypertension. A search for an EIF2AK4 mutation was carried out, and this showed a composite biallelic heterozygous mutation compatible with the diagnosis of familial PVOD, identical to that showed in one of his brothers. Given the signs of severity of the disease and the diagnosis of PVOD, whose response to pharmaceutical therapy is often poor, the patient was placed on a waiting list for lung transplantation. Despite a similar diagnosis in 3 brothers and follow-up proposed 11 years before the diagnosis, pulmonary hypertension appeared within a few weeks and led immediately to a severe clinical situation. Annual clinical and echocardiographic monitoring had been strongly advised to the patient, but had not allowed diagnosis at a mild or moderate stage of the disease. This clinical case shows that the identification of factors predicting the development of heritable PVOD at a pre-symptomatic stage is an important issue for clinical research.

L’objectif de cette étude est d’évaluer les performances diagnostiques de la troponine I hypersensible (hs) pour prédire l’origine cardiaque d’une syncope. L’objectif secondaire est de recherche les causes de majoration de la troponine I hs.Étaient inclus les patients hospitalisés avec un diagnostic principal de malaise ou syncope au SAU. Les performances diagnostiques pour prédire l’origine cardiaque ont été évaluées et comparées au groupe à « haut risque » défini par les recommandations de l’« European Society of Cardiology » (ESC) de 2018.Parmi les 163 patients inclus, 26 % avaient une origine cardiaque. Une troponine I hs positive prédisait une origine cardiaque avec une sensibilité de 31 %, une spécificité de 80 %, des valeurs prédictives positive de 35 % et négative de 77 %. Ces performances diagnostiques sont peu discriminantes et inférieures à la classification de l’ESC. En revanche, un taux de troponine I hs positif est associé à 5 fois plus de décompensation cardiaque durant l’hospitalisation.Une troponine I hs positive lors d’un(e) malaise/syncope n’est pas prédictive d’une origine cardiaque. En revanche, elle semble être un marqueur précoce de remodelage ventriculaire et de l’insuffisance cardiaque.The objective of this study is to evaluate the diagnostic accuracy of high-sensitivity (hs) troponin I to predict cardiac origin after syncope. The secondary objective is to determine the causes of elevated troponin.Were included hospitalized patients with syncope/near syncope diagnosed in ED. The diagnostic accuracy to predict cardiac origin was evaluated and compared to the “high risk” group, defined by the 2018 European Society of Cardiology guidelines.A total of 163 patients were enrolled, 26% had a cardiac origin. Positive troponin I hs predict a cardiac origin with a sensitivity of 31%, a specificity of 80%, positive predictive value of 35% and negative value of 77%. These diagnostic performances are not discriminating and lower than the ESC classification. A positive troponine I hs level is associated with 5 times more cardiac failure during the hospitalization.A positive troponin I hs level after syncope/near syncope is not predictive of cardiac origin. It appears to be an early marker of ventricular remodeling in heart failure.

Le but de notre Permanence d’Accueil Pédiatrique de l’Enfant en Danger (PAPED) est d’accompagner l’enfant lors du recueil de sa parole après révélation d’un abus sexuel. Objectifs montrer l’importance d’une action structurée et concertée des différents professionnels de la PAPED. Matériel et Méthodes la PAPED accueille les enfants pour une audition filmée à la demande du Parquet. L’équipe soignante n’assiste pas à l’enregistrement. Une infirmière et une assistante sociale accueillent l’enfant et évaluent ses besoins et ceux de sa famille. Des soins pédopsychiatriques peuvent être proposés. Résultats En 4 ans, plus de 1200 enfants ont été vus à la PAPED. Le binôme infirmière-assistante sociale et des synthèses avec l’équipe médicale évitent l’isolement émotionnel de chacun. Des échanges réguliers formalisés avec les enquêteurs permettent d’instaurer des rapports de confiance tout en évitant la confusion des rôles.Le professionnalisme d’une équipe soignante multidisciplinaire est le garant d’une aide efficace pour l’enfant et sa famille au cours de cette épreuve. Lors d’une enquête d’évaluation faite par une des infirmières, les parents ont manifesté leur satisfaction pour l’accueil reçu et notre disponibilité de l’équipe.

Previous studies have suggested that for clinical purposes, subjects with fasting triglycerides (TGs) between 89–180 mg/dl (1–2 mmol/l) would benefit from postprandial TGs testing.To determine the postprandial TG response in 2 independent studies and validate who should benefit diagnostically from an oral-fat tolerance test (OFTT) in clinical practice.A population of 1002 patients with coronary heart disease (CHD) from the CORDIOPREV clinical trial and 1115 white US subjects from the GOLDN study underwent OFTTs. Subjects were classified into 3 groups according to fasting cut points of TGs to predict the usefulness of OFTT: (1) TG < 89 mg/dl (<1 mmol/l); (2) TG, 89–180 mg/dl (1–2 mmol/l); and (3) TG > 180 mg/dl (>2 mmol/l). Postprandial TG concentration at any point > 220 mg/dl (>2.5 mmol/l) has been pre-established as an undesirable postprandial response.Of the total, 49% patients with CHD and 42% from the general population showed an undesirable response after the OFTT. The prevalence of undesirable postprandial TG in the CORDIOPREV clinical trial was 12.8, 50.3, and 89.7%, in group 1, 2, and 3, respectively (P < .001) and 11.2, 58.1, and 97.5% in group 1, 2, and 3, respectively (P < .001) in the GOLDN study.These two studies validate the predictive values reported in a previous consensus. Moreover, the findings of the CORDIOPREV and GOLDN studies show that an OFTT is useful to identify postprandial hyperlipidemia in subjects with fasting TG between 1–2 mmol/l (89–180 mg/dL), because approximately half of them have hidden postprandial hyperlipidemia, which may influence treatment. An OFTT does not provide additional information regarding postprandial hyperlipidemia in subjects with low TG (<1 mmol/l, <89 mg/dL) or increased TG (>2 mmol/l, >180 mg/dl).

Objectifs. - Comparer le devenir a 1 an d'enfants obeses pris en charge en education therapeutique collective a celui d'enfants obeses pris en charge individuellement. Patients et methodes. - 278 enfants (168 filles et 110 garcons) obeses (indice de masse corporel (IMC) > + 2 DS) ont ete pris en charge dans le Departement de Pediatrie du CHU d'Angers entre janvier 1996 et decembre 2002 (103 enfants individuellement, et 175 enfants en l'education therapeutique collective). L'education therapeutique collective consistait en trois seances de diaporamas rassemblant 10 enfants a un mois d'intervalle, suivies de consultations individuelles alternees medicale et dietetique tous les trois mois. La prise en charge individuelle consistait en des consultations medicale et dietetique a la suite le meme jour tous les trois mois. Resultats. - Les enfants etaient âges de 10,3 ± 2,9 annees, et leur indice de masse corporelle (IMC) etait de 5,5 ± 2,1 DS, sans difference entre les deux groupes. Le taux d'abandon primaire (enfants ne revenant pas apres la premiere consultation) etait de 17 %, sans difference entre les groupes. Le taux d'abandon a un an etait de 65 % en prise en charge collective vs. 41 % en prise en charge individuelle (p < 0,05). Parmi les enfants suivis a 1 an, 88 % avaient stabilise ou abaisse leur IMC en prise en charge collective vs. 74 % en prise en charge individuelle (p < 0,05). Conclusion. - Parmi les enfants encore suivis apres 1 an, l'education therapeutique collective a permis de stabiliser ou d'abaisser l'IMC d'un pourcentage plus important d'enfants obeses que la prise en charge individuelle, au prix d'un taux d'abandon superieur. Une prise en charge psychologique et des seances d'activite physique adaptee aux sujets obeses pourraient permettre de mieux soutenir la motivation des enfants.

OBJECTIVE:To compare the 1-year outcome of obese children managed medically and dietetically in a group setting with those managed individually.PATIENTS AND METHODS:Two hundred and seventy-eight obese children [168 girls and 110 boys; body mass index (BMI) > + 2 SD] were followed by the Department of Pediatrics of the University Hospital of Angers between January 1996 and December 2002 (175 children in a group setting and 103 individually). The group program consisted of 3 monthly sessions of slide shows for groups of 10 children, followed by individual consultations once every 3 months alternating medical and dietetic concerns. The individual program consisted of successive medical and dietetic consultations on the same day once every 3 months.RESULTS:The children were 10.3 +/- 2.9 years old, and their BMI was 5.5 +/- 2.1 SD, with no difference between groups. The drop-out rate (children not returning after the 1st consultation) was 17%, with no difference between groups. The drop-out rate after 1 year was 65% in the group program and 41% in the individual program (p < 0.05). Of the children who were followed for 1 year, 88% of those treated in a group setting had stabilized or reduced their BMI, whereas 74% of the individually-treated children had done so (p < 0.05).CONCLUSION:Among obese children followed for 1 year, group treatment resulted in a greater percentage of stabilization or reduction in BMI than did individual treatment, although the drop-out rate was higher in the group setting. Psychological support and physical activity sessions adapted for obese children would help to maintain motivation in these children.

Neonatal acute adrenal insufficiency is a rare condition. Congenital adrenal hyperplasia with 21-hydroxylase defect appears to be the most frequent cause, but the neonatal screening has improved its potential severe outcome. The other causes and the various clinical presentations have been exposed, with a special reference to the salt-wasting syndrome. Among them, the severity of X-linked adrenal hypoplasia congenita (AHC) deserves special attention. Two other causes of adrenal hypoplasia have been recently discovered, i.e. a mutation of the SF-1 gene and the syndrome IMAGe. Adrenal insufficiency secondary to ACTH deficiency is often unrecognised despite the risk of severe seizures and hypoglycaemia with brain damage. Finally, the hormonal diagnostic testing and the main therapeutic approach by corticosteroids have been indicated. The aim of this work is to focus the attention of paediatricians who examine a newborn because the risk of delayed diagnosis and fatal outcome may be limited if the clinical symptoms are soon recognized.

Objectifs. - Comparer le devenir a 1 an d'enfants obeses pris en charge en education therapeutique collective a celui d'enfants obeses pris en charge individuellement. Patients et methodes. - 278 enfants (168 filles et 110 garcons) obeses (indice de masse corporel (IMC) > + 2 DS) ont ete pris en charge dans le Departement de Pediatrie du CHU d'Angers entre janvier 1996 et decembre 2002 (103 enfants individuellement, et 175 enfants en l'education therapeutique collective). L'education therapeutique collective consistait en trois seances de diaporamas rassemblant 10 enfants a un mois d'intervalle, suivies de consultations individuelles alternees medicale et dietetique tous les trois mois. La prise en charge individuelle consistait en des consultations medicale et dietetique a la suite le meme jour tous les trois mois. Resultats. - Les enfants etaient âges de 10,3 ± 2,9 annees, et leur indice de masse corporelle (IMC) etait de 5,5 ± 2,1 DS, sans difference entre les deux groupes. Le taux d'abandon primaire (enfants ne revenant pas apres la premiere consultation) etait de 17 %, sans difference entre les groupes. Le taux d'abandon a un an etait de 65 % en prise en charge collective vs. 41 % en prise en charge individuelle (p < 0,05). Parmi les enfants suivis a 1 an, 88 % avaient stabilise ou abaisse leur IMC en prise en charge collective vs. 74 % en prise en charge individuelle (p < 0,05). Conclusion. - Parmi les enfants encore suivis apres 1 an, l'education therapeutique collective a permis de stabiliser ou d'abaisser l'IMC d'un pourcentage plus important d'enfants obeses que la prise en charge individuelle, au prix d'un taux d'abandon superieur. Une prise en charge psychologique et des seances d'activite physique adaptee aux sujets obeses pourraient permettre de mieux soutenir la motivation des enfants.

In diabetic ketoacidosis (DKA), β hydroxy butyrate (βOHB) is the major ketone body accumulated in blood.During treatment of DKA, βOHB is converted to acetoacetate and acetone which are excreted in the urine.Venous βOHB level is the preferred test for monitoring metabolic status in DKA but cost and unavailability limits its use.Ketone monitoring is usually done semiquantitatively by measuring urinary ketones.However, persistence of ketones in the urine, despite metabolic improvement is seen due to the above mentioned limitations.We aimed to compare the sensitivity of capillary βOHB by electrochemical method with urinary ketone measurement during treatment of DKA Patients with DKA admitted to the hospital were followed with simultaneous measurements of fingerstick capillary βOHBmeasured by electrochemical method (Medisense Optium, Abbott), and urinary ketone by dipstick method.Blood gases were measured in 2-4 hrs intervals.The relationship between simultaneous measurements of urine ketone, blood ketone, blood pH and HCO3 were investigated.14 patients with DKA (7 M, 7 F, Age: 9.2 ± 4.2 yr) were included with 50 simultaneous measurements of capillary and urinary ketone.Blood gases were assessed 2-4 hourly.No correlation was detected between urine ketone and blood PH (p=0.06) and HCO3 (p=0.79) while a significant negative correlation was found between capillary blood ketone and blood pH (r:-0.41,p <0.05) and HCO3 (r:-0.35,p<0.05).Capillary βOHB and urine ketones did not correlate at the beginning and 3.3 ± 1.4 hrs after treatment, but did correlate in the third samples taken 7.8 ± 2.0 hrs after treatment (p<0.05).We conclude that capillary blood βOHB level shows good correlation with the degree of acidosis (pH and HCO3) during DKA management.Capillary βOHB is more sensitive than urinary ketone measurement in reflecting the patient's metabolic status and improvement during treatment.

The lower responsiveness to GH in women than in men is probably due to a divergent effect of gonadal steroids. It is unknown, however, how the progressive increase in sex steroid production that occurs during puberty affects this responsiveness. To compare the effects of puberty and sex steroid administration on responsiveness to GH, we used the IGF-I generation test, in which the peak IGF-I level 24 h after a single injection of GH (2 mg/m2) was studied in 117 healthy short subjects (56 females and 61 males). The subjects, aged 8-16 yr, were divided into four groups: prepuberty, early puberty, midpuberty, or pubertal delay. In the latter group, the IGF-I response was determined before and after priming with oral 17beta-estradiol in girls and im testosterone in boys. We also tested for an association between body composition (by dual energy x-ray absorptiometry) and the IGF-I response to GH. The IGF-I increment in response to GH (change in IGF-I from baseline) was correlated with the growth velocity sd score (P < 0.05). Progression throughout puberty was associated with an increase in both baseline IGF-I (P < 0.05) and the IGF-I increment in response to GH (P < 0.05), with no gender difference. Pubertal category (pre-, early, and midpuberty; P < 0.05) and fat percentage (P < 0.05) were the main positive predictors of the IGF-I increment in response to GH, expressed as micrograms per liter as well as sd score, independently of baseline IGF-I. After sex steroid priming, both the GH peak in response to insulin-induced hypoglycemia and baseline IGF-I were increased (P < 0.05, after vs. before sex steroid). However, the IGF-I increment in response to GH decreased after oral 17beta-estradiol (P < 0.05), whereas it was unchanged after testosterone administration. Endogenous gonadal steroid secretion appears to result in increased responsiveness to GH in peripubertal girls and boys. By contrast, exogenous estrogen and testosterone, respectively, produce a relative decrease and no change in responsiveness to GH in similar populations, possibly through the achievement of sex steroid concentrations exceeding physiological ranges for age. Fat percentage was a positive determinant of the responsiveness to GH, suggesting a link between the energy stores and the anabolic action of GH.