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This book has been created for parents who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells parents where and how to look for information covering virtually all topics related to kearns-sayre syndrome (also Chronic Progressive External Ophthalmoplegia and Myopathy; Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers; hereditary external ophthalmoplegia; Kearns-Sayre Disease; Mitochondrial Cytopathy, Kearn-Sayre Type; oculocraniosomatic neuromuscular disease), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on kearns-sayre syndrome. Given parents' increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard-copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. In addition to extensive references accessible via the Internet, chapters include glossaries of technical or uncommon terms. ... Read more

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Purchase includes free access to book updates online and a free trial membership in the publisher's book club where you can select from more than a million books without charge. Chapters: Mitochondrial Disease, Leber's Hereditary Optic Neuropathy, Kearns-Sayre Syndrome, List of Icd-9 Codes 240-279: Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders, Non-Mendelian Inheritance, Friedreich's Ataxia, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes, Nonsyndromic Deafness, Wolfram Syndrome, Leigh's Disease, Pyruvate Carboxylase Deficiency, Merrf Syndrome, Pyruvate Dehydrogenase Deficiency, Neuropathy, Ataxia, and Retinitis Pigmentosa, Progressive External Ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial Encephalomyopathy, Pearson Syndrome, Diabetes Mellitus and Deafness, Threshold Expression. Excerpt:Diabetes mellitus and deafness Diabetes mellitus and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) is a mitochondrial disease associated with the gene "Leu-UUR ". Alternative names See also (online edition) References (URLs online) A hyperlinked version of this chapter is at Friedreich's ataxia Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease . Generally, ataxia is a symptom of coordination problems such as clumsy or awkward movements and unsteadiness and occurs in many different diseases and conditions. The ataxia of Friedreich's ataxia results from the degeneration of nerve tissue in the spinal cord , in particular sensory neurons essential (through connections with the cerebellum ) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insular covering on some nerve cells that helps conduct nerve impulses ). Eponym The condition is named after the German physician Nicholaus Fried... ... Read more

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Chapters: Myopia, Kearns-Sayre Syndrome, Sixth Nerve Palsy, Duane Syndrome, Astigmatism, Presbyopia, Brown's Syndrome, Strabismus, Esotropia, Aniseikonia, Exotropia, Hyperopia, Hypertropia, Oculomotor Nerve Palsy, Congenital Fourth Nerve Palsy, Internuclear Ophthalmoplegia, Anisometropia, Progressive External Ophthalmoplegia, Heterophoria, Exophoria, Esophoria, Conjugate Gaze Palsy. Source: Wikipedia. Pages: 128. Not illustrated. Free updates online. Purchase includes a free trial membership in the publisher's book club where you can select from more than a million books without charge. Excerpt: Myopia (Greek: , mupia, "nearsightedness"), is a refractive defect of the eye in which collimated light produces image focus in front of the retina when accommodation is relaxed. Those with myopia see near objects clearly but far away objects appear blurred. With myopia, the eyeball is too long, or the cornea is too steep, so images are focused in the vitreous inside the eye rather than on the retina at the back of the eye. The opposite defect of myopia is hyperopia or "farsightedness" or "long-sightedness"this is where the cornea is too flat or the eye is too small. Eye care professionals most commonly correct myopia through the use of corrective lenses, such as glasses or contact lenses. It may also be corrected by refractive surgery, but this does have many risks and side effects. The corrective lenses have a negative optical power (i.e. are concave) which compensates for the excessive positive diopters of the myopic eye. Alternative ideas and methods of treatment exist, most notably the claim that myopia is caused by excessive near sight work. Myopia has been classified in various manners. Borish and Duke-Elder classified myopia by cause: Elevation of blood-glucose levels can also cause edema (swelling) of the crystalline lens (hyperphacosorbitomyopicosis) as a result of sorbitol (sugar alcohol) accumulating in the lens. This edem...More: http://booksllc.net/?id=88042 ... Read more

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Les achats comprennent une adhésion à l'essai gratuite au club de livres de l'éditeur, dans lequel vous pouvez choisir parmi plus d'un million d'ouvrages, sans frais. Le livre consiste d'articles Wikipedia sur : Neuropathie Optique de Leber, Syndrome Melas, Syndrome Narp, Syndrome de Kearns-Sayre. Non illustré. Mises à jour gratuites en ligne. Extrait : Les maladies mitochondriales ou mitochondropathies regroupent un ensemble disparate de maladies en rapport avec un trouble de chaîne respiratoire mitochondriale. Ce trouble est secondaire à une mutation de l'ADN nucléaire ou mitochondrial. Les mitochondries sont des structures intra-cellulaires responsables de la production énergétique de celles-ci. Elles possèdent leur propre ADN. Elles sont toujours issues de la mère, le gamète mâle n'apportant en principe que de l'ADN nucléaire. La transmission des maladies mitochondriales ne se fait donc que de mère à enfants. L'implication des mitochondries dans la chaine de production énergétique explique une atteinte préférentielle des organes dépendant fortement de cette dernière : neurones, muscles... Certaines maladies mitochondriales n'atteignent qu'un organe (comme l'œil dans la neuropathie optique héréditaire de Leber), mais la plupart impliquent de nombreux organes avec des signes neurologiques et musculaires souvent au premier plan. Les manifestations de ces maladies surviennent à n'importe quel âge. D'une façon générale, les mutations de l'ADN nucléaire se manifestent plus tôt que les mutations de l'ADN mitochondrial. Cependant, la très grande variabilité des manifestations cliniques ne permet pas toujours de poser un diagnostic précis. Les signes les plus fréquents d'une mitochondropathie sont un ptosis, une ophtalmoplégie externe, une myopathie ou une fatigabilité musculaire excessive, une cardiomyopathie, une diminution de la vision et de l'audition, une atrophie optique, une rétinite pigmentaire ou un diabète.Les signes neur...http://booksllc.net/?l=fr ... Read more