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Pediatric Neurology, Part I
The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Ev...
Management of Genetic Syndromes
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagn...
EHealth Beyond the Horizon
The first part of the MIE 2008 conference theme - eHealth Beyond the Horizon - highlights the expectations for the future of ehealth and raises the question: What sort of developments in ehealth services can we imagine emerging above the horizon in the years to come? EHealth Beyond the Horizon contains a good number of high-quality papers giving different perspectives of this future, some of them already available today in picot scale, some of them outlined in visions. The second part of the theme - Get IT There - has triggered a large number of papers describing how to create, evaluate, adjust and deliver products and deploy services in healthcare organizations for the necessary information technology as a basis for the ehealth applications that are essential in order to respond to the challenges of the health systems. The papers in the proceedings are grouped by themes according to the submission categories and the supplied keywords. As the last theme, three doctoral students from different areas of medical informatics were selected to present and discuss their research under the guidance of a panel of distinguished research faculties.
Pediatric Ophthalmology and Strabismus,Expert Consult - Online and Print,4
Pediatric Ophthalmology and Strabismus is your one-stop source for comprehensive coverage of all the pediatric ophthalmic conditions you are likely to encounter in practice. Extensively updated with expert contributions from leaders in the field and now featuring online instructional videos, this ophthalmology reference delivers all the state-of-the-art guidance you need to effectively diagnose and manage even the most challenging eye diseases and disorders seen in children. Take a holistic approach to patient management that considers the family and ensures optimal doctor-patient relationships.Get a balanced view of etiology, diagnosis, and management, and access unique guidance on the prac...
Melatonin
Melatonin is a neurohormone produced in the brain by the pineal gland, from the amino acid tryptophan. Melatonin possesses antioxidant activity, and many of its proposed therapeutic or preventive uses are based on this property. This book presents a wide spectrum of research on melatonin.
Patient engagement in healthcare: a preliminary set of measures to evaluate patient engagement in the European Reference Networks
Aim: The European Reference Networks (ERNs) provide clinicians and patients the opportunity to collaborate at EU level to improve diagnosis, care and treatment for people living with rare and complex conditions. However, building a partnership culture to systematically involve patients in ERN activities and decision-making structures is challenging, partly because the role of patient representatives and the value of this collaboration are not always understood. The objective of this project was to develop an evaluation framework to assess the impact of patient engagement in the ERNs and to provide evidence on the value of patient-clinician partnership. Methods: The evaluation was developed b...
Pediatric Neurology Part I
True microcephaly (head circumference ≤–3SD), either primary (present at birth) or secondary (of postnatal onset) results from an imbalance between progenitor cell production and cell death that lead to a reduced number of neuronal and glial cells within the brain, resulting in reduced brain growth. Primary non-syndromal microcephalies are recessive disorders resulting from abnormal control of mitotic spindle and cell cycle kinetics in progenitor cells. Microcephaly is also a frequent sign of defects in DNA double- and/or single-strand break repair and in nucleotide excision repair, in which it often is associated with general growth impairment. In these etiologies, cognitive functions a...
The Abdominal Aortic Aneurysm
Clinical and laboratory information on abdominal aortic aneurysms (AAAs) is reviewed in this volume. The focus is on recent developments related to the biochemistry and cellular pathophysiology of matrix destruction associated with the disease.
Génétique médicale
La Génétique Médicale du 21e siècle ne se contente plus de décrire des phénotypes : elle les explique, les anticipe, et se met à espérer les corriger. En 14 chapitres, les auteurs dressent le panorama de la génétique médicale, du conseil génétique aux maladies multifactorielles, de la médecine prénatale à la Cancérologie. Leur approche est délibérément orientée vers la pratique clinique et ses difficultés : chaque chapitre fait le lien entre les avancées de la biologie fondamentale, celles des techniques de laboratoire et de leurs conséquences en pratique clinique. Le texte s’appuie sur de très nombreux exemples concrets et cas pratiques qui mettent la Génétique Médicale en perspective : complexité technologique, difficultés d’interprétation, problèmes éthiques. Cet ouvrage s’adresse aux étudiants de 2e cycle, aux spécialistes en formation ou confirmés, et plus généralement à tous ceux qui s’interrogent sur cette discipline mal connnue qu'est la Génétique Médicale.
Syndromes dysmorphiques
Ce premier ouvrage traitant des anomalies du développement (dysmorphologie) en langue française témoigne de la nécessaire complémentarité entre pédiatres et généticiens médicaux dans la prise en charge des enfants atteints de ces syndromes rares. Toutes les équipes des centres de référence maladies rares " Anomalies du développement et syndromes malformatifs " ont participé à sa rédaction. Si le diagnostic des syndromes génétiques a bénéficié des extraordinaires progrès techniques permettant maintenant de séquencer l'ensemble des gènes, voire même le génome entier en quelques jours, l'expertise clinique du diagnostic reste essentielle. Dans de nombreux cas l'interp...
