Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. The characterization of CMS comprises two complementary steps: establishing the diagnosis and identifying the pathophysiological type of CMS. The combination of clinical, electrophysiological, and morphological studies allows the physician to refer a given CMS to mutation(s) in one of the 18 causative genes discovered to date and, in turn, to classify the CMS according to the location of the mutated proteins at the neuromuscular junction into presynaptic compartment, synaptic basal lamina, and postsynaptic compartment CMS. This complete characterization is essential for counseling and therapy of the patient, depending on the molecular background of the respective CMS. Despite comprehensive characterization, the phenotypic expression of one given gene involved is variable, and the etiology of many CMS remains to be discovered.
Mystical experience is not really understood in our modern Western culture, but we have a rich history and traadition that can be traced from remote ages to the present day. It is a phenomenon common to all religions and races, differing in manifestation, but sharing a similar foundation#8212the realization from personal experience that all things are interdependent, that the source is One. The mystical experience is often brief, immediate, maybe mysterious#8212a last experience that rbings all-embracing emotion (love) into the bounds of concrete reality. Bruno Borchert brings mysticism into sharp focus by exploring ideas and concecpts from world religions and explaining Christian mystics in history, in perspective, and through art. He takes us from Zoroaster to European alchemists, explores the Hellenistic world, the feminine world-view, and the experience of God shard by saints and well-known mystics such as St. Theresa and St. Francis. Modern approaches explored by psychologists like Jung and Maslow, and the contemporary search for mystical love make this a necessary book for people who want to understand the spiritual path.
Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product.The ULTIMATE reference about syndromes to have on hand to facilitate rapid recognition and perioperative implications --- in full colorSyndromes: Rapid Recognition and Perioperative Implications, Second Edition, is the ultimate reference for anesthesiologists, surgeons, internists, pediatricians, emergency physicians and nurses caring for patients affected with special operative needs and acute medical care. This updated book provides a complete A-to-Z encyclopedic clinical presentation of more than 2,200 syndromes. Extensive cross-referencing of international synonyms, classifications, and other conditions to be considered in the differential diagnosis further expands coverage to more than 5,000 entries. It is the most comprehensive reference on the subject. Syndromes: Rapid Recognition and Perioperative Implications, Second Edition, is enhanced by 200 high-quality photographs, in addition to tables, classifications and clinical management considerations. The addition of color tabs, a new feature, improve consultation and speed information retrieval. Each syndrome, listed in alphabetical order, is described as follows:•“At a glance” description•Synonyms•Incidence•Genetic Inheritance•Pathophysiology•Diagnosis•Clinical Aspects•Precautions Before Anesthesia•Anesthetic Considerations•Pharmacological Implications•Other conditions to be considered•ReferencesHealth care providers, fellows and residents in training will find this textbook to be an essential reference to improve patient care in this highly demanding medical and surgical environment.
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