51 research outputs found
Health-related quality of life among children with Turner syndrome: controlled cross-sectional study
International audienceBACKGROUND : The aim of the study was to assess health-related quality of life (HR-QoL) in children with Turner syndrome in comparison with controls.METHODS : We prospectively recruited 16 female girls with Turner syndrome (mean age 15.2±2.6 years) and 78 female controls (mean age 12.7±2.8 years) in randomly selected schools. We used the PedsQL, a generic HR-QoL questionnaire (self and parents' versions).RESULTS : Global HR-QoL scores in Turner syndrome were lower than controls for self-reports (respectively, 74.3±3.0 vs. 82.8±1.3, p=0.01) and parents' reports (62.7±3.8 vs. 80.1±1.7, p<0.0001). In Turner syndrome, self-reported HR-QoL was impaired in school functioning (70.6±4.0 vs. 80.71±1.7, p=0.02), social functioning (78.2±4.0 vs. 90.4±1.8, p<0.01) and physical functioning (78.5±3.2 vs. 87.1±1.4, p=0.02), but not in emotional functioning. Parents' reported HR-QoL was impaired in all four dimensions.CONCLUSIONS : HR-QoL was impaired in this cohort of young females with Turner syndrome, as in previously reported adult studies. In addition to medical treatment and routine clinical follow-up, female girls and teenagers with Turner syndrome should also be supported psychologically by social, educational and psychotherapeutic interventions that aim to address their self-esteem and emotional difficulties
325 Clinical presentation and long-term clinical outcomes of non immune, isolated atrioventricular block diagnosed in utero or early childhood
Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects
Secundum-type atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD) and are associated with a familial risk. Mutations in transcription factors represent a genetic source for ASDII. Yet, little is known about the role of mutations in sarcomeric genes in ASDII etiology. To assess the role of sarcomeric genes in patients with inherited ASDII, we analyzed 13 sarcomeric genes (MYH7, MYBPC3, TNNT2, TCAP, TNNI3, MYH6, TPM1, MYL2, CSRP3, ACTC1, MYL3, TNNC1, and TTN kinase region) in 31 patients with familial ASDII using array-based resequencing. Genotyping of family relatives and control subjects as well as structural and homology analyses were used to evaluate the pathogenic impact of novel non-synonymous gene variants. Three novel missense mutations were found in the MYH6 gene encoding alpha-myosin heavy chain (R17H, C539R, and K543R). These mutations co-segregated with CHD in the families and were absent in 370 control alleles. Interestingly, all three MYH6 mutations are located in a highly conserved region of the alpha-myosin motor domain, which is involved in myosin-actin interaction. In addition, the cardiomyopathy related MYH6-A1004S and the MYBPC3-A833T mutations were also found in one and two unrelated subjects with ASDII, respectively. No mutations were found in the 11 other sarcomeric genes analyzed. The study indicates that sarcomeric gene mutations may represent a so far underestimated genetic source for familial recurrence of ASDII. In particular, perturbations in the MYH6 head domain seem to play a major role in the genetic origin of familial ASDII
Le syndrome du QT long congénital (étude rétrospective multicentrique pédiatrique)
MONTPELLIER-BU MĂ©decine UPM (341722108) / SudocPARIS-BIUM (751062103) / SudocMONTPELLIER-BU MĂ©decine (341722104) / SudocSudocFranceF
LES SYNDROMES PREMENSTRUELS ET LEURS TROUBLES ANXIO-DEPRESSIFS EN MEDECINE GENERALE
AMIENS-BU Santé (800212102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
Isolated Ventricular Inversion : A Rare Complex Congenital Heart Disease With Neonatal Cyanosis
International audienceA 1-day-old girl was referred for a cardiology consultation for a mean saturation at 80% without respiratory distress. Echocardiography showed an isolated ventricular inversion. This entity is extremely rare, with fewer than 20 cases reported. This case report describes the clinical evolution and the complex surgical management of this pathology. (Level of Difficulty: Advanced.
Suivi des patients opérés d'une tétralogie de Fallot (quels indices échocardiographiques de fonction ventriculaire droite?)
MONTPELLIER-BU MĂ©decine UPM (341722108) / SudocMONTPELLIER-BU MĂ©decine (341722104) / SudocSudocFranceF
Etude échocardiographique de la fonction ventriculaire droite (valeurs de référence chez l'enfant avec un coeur normal)
Introduction : Les patients porteurs de cardiopathies congénitales nécessitent une évaluation échocardiographique régulière de la fonction VD, dont les indices sont déjà validés chez l'adulte. Cependant, il existe peu de données chez l'enfant sain. L'objectif de cette étude est d'établir des valeurs de référence pour les indices de fonction VD, chez des enfants sans anomalie cardiaque, et d'analyser leur variation selon l'âge, la surface corporelle et le sexe. Matériel et méthode: Nous avons réalisé une étude prospective, bi-centrique. 314 enfants de 2 jours à 18 ans, ont été inclus. L'onde E', A' et S'en DTI à la tricuspide, l'indice de TEl en DTI et le T APSE ont été recueillis; l'effet des facteurs anthropométriques sur ces indices a été étudié. Résultats: Les valeurs moyennes de l'onde E', A' et S'étaient, respectivement de 13.7 +- 3.8 cmls, 10.1 +- 3.7 cruis et 12 +- 2.2 cmls ; les valeurs moyennes du TAPSE était de 18.7'+-4.9 mm et de 0,41 +- 0.11 pour l'indice de TEl en DTI. Chez le nourrisson les ondes E', A' et S' étaient corrélées avec la surface corporelle, Ie TAPSE avec la taille. Chez l'enfant l'onde S' était corrélée avec le poids, l'onde A' avec l'âge, le TAPSE avec le poids. Aucune corrélation n'a été retrouvée pour l'onde E' chez l'enfant, et pour l'indice de TEI en DTI. Conclusion: Nous établissons des valeurs de référence d'indice de fonction VD chez l'enfant au coeur normal, qui pourront être utilisées chez des patients atteints de cardiopathies congénitales.MONTPELLIER-BU Médecine UPM (341722108) / SudocMONTPELLIER-BU Médecine (341722104) / SudocSudocFranceF
Réadaptation cardiaque de l’enfant et l’adulte avec une cardiopathie congénitale
International audienceAdvances in heart surgery over the past 30Â years have significantly improved the prognosis of congenital heart diseases (CHD). Therefore, the epidemiology of CHD has changed dramatically with a shift of mortality from pediatrics to adulthood and an increased prevalence of complex CHD. Today, caregivers and patients focus their interests to new perspectives: improving the quality of life, practicing sports, improving psychosocial care. Cardiac rehabilitation is completely integrated in these new therapeutic strategies. The starting point is the cardiopulmonary exercise test (CPET), with the measurement of oxygen uptake, or "VO2". CPET is now recommended in the follow-up of the adults with CHD. Maximum oxygen uptake correlates to the quality of life of children and adults with CHD. The principles of the rehabilitation in patients with heart failure may usually be applied to CHD patients. Some studies in complex CHD showed improvement of VO2Â and quality of life after rehabilitation, without any adverse events. However few physicians have the experience in rehabilitation among CHD patients, especially children. Randomized trials on cardiac rehabilitation in adult and pediatric CHD patients are essential to increase the level of evidence and lead to specific guidelines in this population
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