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Pediatric Neurology, Part III
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...
Pediatric Neurology Part III
Infancy- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, cardiac and respiratory functions, while those of late onset may be mild and associated with slight weakness or fatigability induced by effort. In addition to the distribution of muscle weakness, symptoms, and course of the disease, the diagnosis of muscular dystrophy is usually ascertained by histological findings. There is connective tissue proliferation in the perimysium and endomysium, variation in muscle fiber size, cytoarchitectural alterations of myofibers such as internal nuclei, myofibrillar whorls, and fiber splitting and lobulation, but, most of ...
The Complexity of Psychiatric Care, from Pregnancy to Adolescence: Beyond the Endogenous-Exogenous Dichotomy
Child and adolescent psychiatry hosts a range of diverse epistemological positions regarding the origin of psychical suffering, from fully endogenous (e.g. genetic) to mostly exogenous (e.g. family trauma, etc.). The complexity of clinical situations generally precludes such epistemologies to require exclusive therapeutic strategies: psychodynamic psychotherapy can be fruitful in the context of monogenic genetic illnesses (at the family or individual level), while pharmacology can be a necessary tool in a variety of difficult relational contexts or personality issues (e.g. in adolescence). Thus nowadays, the most promising therapeutic perspectives in child and adolescent psychiatry attempt to do justice to the polyfactorial complexity of mental suffering (notably by refining their psychopathologies), by drawing on e.g. biopsychosocial or epigenetic models – even more so as prevention policies ask for longitudinal studies to help with the early detection of potential future troubles.
Pediatric Neurology Part I
Clinical features (progressive psychomotor retardation, seizures, movement disorders and motor signs in both central and peripheral systems, sensorineural defects, and psychiatric symptoms) and brain imaging are the keys to diagnosis. CT is indicated for the detection of calcifications and blood, and for angiography. MRI in all three axes requires T1, T2, FLAIR (from 1 year on), eventually T2* or contrast administration, and diffusion in any acute condition. MR spectroscopy allows the dectection of lactate and creatine deficiency, elevated choline in high membrane turnover, and low NAA in neuronal death. The normal sequence of myelination needs to be taken into account. Pre- and neonatal ano...
Inborn Metabolic Diseases
This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book’s main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.
Pediatric Neurology Part III
Clinical symptoms of neuromuscular diseases vary according to age and type of primary involvement (spinal motor neuron, nerve, neuromuscular junction or muscle). Tools at our disposal for diagnostic purposes are graduated based on the age of the patient and diagnostic suspicions generated by the clinical workup. Seven clinical presentations can be identified that all require technical facilities specifically dedicated to pediatric neuromuscular diseases: congenital hypomobility and arthrogryposis, paralytic hypotonia in infancy, motor delay and chronic walking difficulties after the age of 18 months, progressive walking difficulties after the age of 3 years, effort intolerance and acute rhab...
Entanglements of Rare Diseases in the Baltic Sea Region
Drawing on ethnographic studies of the lived experiences of people with rare diseases, this volume critically examines rare, chronic diseases in the context of care, kinship, and technologies, providing in-depth analyses of local worlds that usually remain at the peripheries of medical anthropological inquiry.
Idiopathic Generalized Epilepsies
Idiopathic generalised epilepsies are characterised by strong genetic factors and multiple clinical phenotypes; animal models of untreated epilepsies are relevant to some of the clinical syndromes found in humans. This volume is the first to confront human clinical, animal (experimental) as well as basic and applied genetic data. Main section headings: Current approaches; Familial neonatal and infantile convulsions; Absence seizures and absence epilepsy; Juvenile myoclonic epilepsy and related syndromes; Photosensitivity; Pathophysiology of convulsive seizures; Fundamental and therapeutic aspects.
