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CONTEXTE : Contrairement à la neurofibromatose de type 1 (NF1), la fibromatose segmentaire (NFS) est extrêmement rare. Toutes les complications typiques de la NF1 peuvent être rencontrées chez les patients atteints d'une NFS. Cependant, la prévalence des complications semble plus faible que dans la maladie généralisée. Alors que les troubles des apprentissages (TA) sont largement présents chez les individus atteints d'une NF1, aucun auteur n'a étudié spécifiquement ce trouble dans la NFS auparavant. OBJECTIF : Évaluer la fréquence des TA chez les patients avec une SNF grâce à un questionnaire standardisé, et décrire leurs caractéristiques cliniques. METHODES : Nous avons inclus, dans une étude transversale, entre mai et août 2014, les patient avec une NFS ayant consulté dans deux services français de dermatologie. Nous avons établi un questionnaire standardisé sur les antécédents personnels concernant la période néonatale et l'enfance, les fonctions de développement, les caractéristiques cliniques de la SNF, le mode de suivi spécialisé et es antécédents de la famille au premier degré. Conformément au Manuel Diagnostique et Statistique des troubles mentaux (DSM), nous avons préétabli des critères stricts pour définir un patient comme ayant un TA. Nous avons recherché une corrélation statistiquement significative entre TA/ difficultés d'apprentissage et l'âge, la présence de neurofibromes, le nombre de segments touchés, la présence d'une scoliose, le niveau d'étude et les difficultés d'apprentissage des parents et de la fratrie. RESULTATS : Nous avons inclus 28 patients avec une NFS, de moyenne d'âge de 25,20 ans. La majorité des patients avait uniquement des manifestations pigmentaires (71,43%). La scoliose étai une des complications les plus fréquemment retrouvées (32,14%). Notre questionnaire a permis de mettre en évidence la présence de 21,43 % de TA et 39,29 % de difficultés d'apprentissage, tau bien plus élevés que dans la population générale française (2-10 % et 20 % respectivement). Nous n'ont pas trouvé de facteurs prédictifs statistiquement significatifs de TA ou de difficultés d'apprentissage (p>0,05). CONCLUSIONS : Les TA et les difficultés d'apprentissage semblent être lus fréquentes chez les patients atteints d'une NFS que dans la population générale. Une évaluation spécifique est nécessaire pour ces patients, comme pour les autres complications de la neurofibromatose
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
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The most important core skills for medical students to master are history taking and clinical examination. This extensively revised, eighth edition has been written with the philosophy that the acquisition of clinical skills is most effectively undertaken at the bedside. This pocketbook should be used as a companion, to be taken onto the wards and into consulting rooms where the information is most needed. The book begins with a system of history taking followed by a new chapter on the analysis of key symptoms. The remaining chapters cover physical examination of each of the major systems. Each stage of the examination starts with a detailed, step-by-step description of the examination method complemented by relevant illustrations, diagrams and tables on the facing page. This book is intended primarily for use at the outset of clinical training; once students have achieved proficiency in the basic skills of interviewing and examining, the book should also prove useful for revision. An invaluable starter book concentrating purely on the fundamentals of performing a patient examination. Covers each body system and outlines the principles of: - taking a history - how to conduct a physical examination - specific examination points as appropriate Concentrates only on the main symptoms of disease and then the normal and abnormal physical findings. Mention of specific diseases is confined to those most commonly encountered. Compact and pocket-sized to be carried around easily. · Now in full colour double-page format · Clear simple colour line drawings covering the essentials of a clinical examination. · Published simultaneously with the Eleventh Edition of Macleod's Clinical Examination
The Bereaved Child: Analysis, Education, and Treatment. An ab stracted bibliography is a comprehensive abstracted bibliography focusing on the reactions and coping mechanisms of children and adolescents to the death of parents, siblings, friends, teachers, pets or even presidents. Publication~ dealing with both normative and pathological stages of bereavement are reviewed. Materials covering childhood concepts/attitudes toward death are included. Citations appear which explore child death education/counseling issues for parents and educators when they involve actual or antic ipated death. Articles are reviewed which deal with the importance of the adult role in the mourning process of the child. For example, decisions such as whether a child should attend a funeral or return to school are examined. Publications are included which explore the short and l'ong term developmental consequences of childhood death experience. It is important to note that the topic of the dying child was excluded. The Bereaved Child contains over 550 citations in author alphabetized and abstracted form. Only English-written books and periodicals are represented. A quick glance will reveal that the bulk of the material is post-1960. This reflects the recency of in terest and study in the area of childhood bereavement. Literature across multiple disciplines was scanned and included. Psychology, medicine, social work, and education are heavily represented, while no theological, literary, or popular sources were examined.