Mitochondrial disorders

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  • (bq) part 2 book “neuromuscular disorders” has contents: toxic neuropathies, neuropathies associated with endocrinopathies, idiopathic polyneuropathy, autoimmune myasthenia gravis, muscular dystrophies, congenital myopathies, metabolic myopathies, mitochondrial disorders,… and other contents.

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  • Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Next generation sequence analysis for mitochondrial disorders

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  • The contribution of genetics to presbycusis (see below) is also becoming better understood. In addition to GJB2, several other nonsyndromic genes are associated with hearing loss that progresses with age. Sensitivity to aminoglycoside ototoxicity can be maternally transmitted through a mitochondrial mutation. Susceptibility to noise-induced hearing loss may also be genetically determined. There are 400 syndromic forms of hearing loss.

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  • Mood disorders are a crucial group of mental disorders that last for a life time, cause psychosocial dysfunction, disrupts interpersonal relationships and are overall highly restrictive. The facts that mood disorders are seen as high as 3-5% of the society and 70% of the patients' first psychiatric application puts forward that they are not well known show that these are a serious type of mental illness. The average time to make the right diagnose is reported as 10 years.

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  • Fatty acids (FAs) can be degraded via different mechanisms including a-, b- and x-oxidation. In humans, a range of different genetic diseases has been identified in which either mitochondrial FAb-oxidation, peroxisomal FAb-oxidation or FAa-oxidation is impaired. Treatment options for most of these disorders are limited.

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  • With the aging of the population, we are seeing a global increase in the prevalence of age-related disorders, especially in developed countries. Chronic diseases disproportionately affect the older segment of the popula-tion, contributing to disability, a diminished quality of life and an increase in healthcare costs.

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  • Mitochondrial diseases are a heterogeneous group of disorders that are currently the focus of intense research. The many cell functions performed by mitochondria include ATP production, calcium homeostasis, and apoptosis.

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  • Inherited mitochondrial disorders are transmitted in a matrilineal fashion; all children from an affected mother will inherit the disease, but it will not be transmitted from an affected father to his children (Fig. 62-11D ). Alterations in the mtDNA affecting enzymes required for oxidative phosphorylation lead to reduction of ATP supply, generation of free radicals, and induction of apoptosis. Several syndromic disorders arising from mutations in the mitochondrial genome are known in humans and they affect both protein-coding and tRNA genes (Table 62-1 and Table 62-5).

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  • Myogenic Ptosis The causes of myogenic ptosis include myasthenia gravis (Chap. 381) and a number of rare myopathies that manifest with ptosis. The term chronic progressive external ophthalmoplegia refers to a spectrum of systemic diseases caused by mutations of mitochondrial DNA. As the name implies, the most prominent findings are symmetric, slowly progressive ptosis and limitation of eye movements. In general, diplopia is a late symptom because all eye movements are reduced equally. In the Kearns-Sayre variant, retinal pigmentary changes and abnormalities of cardiac conduction develop.

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  • Lithium is a therapeutic agent commonly used to treat bipolar disorder and its beneficial effects are thought to be due to a combination of activa-tion of the Wnt⁄b-catenin pathway via inhibition of glycogen synthase kin-ase-3b and depletion of the inositol pool via inhibition of the inositol monophosphatase-1.

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  • Research aiming to predict which patients will do better with which type of specialist treatments has given few leads. The GP’s decision where to refer a patient should be guided in large part by the patient’s choice. Some predictors however, have emerged: patients who are angry at the initial assessment appear to do better, in the short term, if given motivational interviewing.117,118 Patients with psychiatric disorders (‘dual diagnosis’) tend to do better if referred to specialist psychological or psychiatric services than to 12-step Alcoholics Anonymous (AA) groups.

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  • (BQ) Part 1 of the document BRS Genetics presents the following contents: The human nuclear genome, DNA packaging, chromosome replication, mendelian inheritance, uniparental disomy and repeat mutations, mitochondrial inheritance, multifactorial inherited disorders, population genetics, mitosis, meiosis and gametogenesis.

    pdf109p thangnamvoiva2 25-06-2016 28 1   Download

  • (BQ) Continued part 1, the document Diagnosis & treatment neurology with current (Third edition): Part 2 has contents: Nontraumatic disorders of the spinal cord, peripheral neuropathies, motor neuron diseases, autonomic disorders, mitochondrial diseases, neurologic intensive care,... and other contents. Invite you to refer.

    pdf340p thuongdanguyetan04 25-07-2019 3 0   Download

  • Lactic Acidosis An increase in plasma L-lactate may be secondary to poor tissue perfusion (type A)—circulatory insufficiency (shock, cardiac failure), severe anemia, mitochondrial enzyme defects, and inhibitors (carbon monoxide, cyanide)—or to aerobic disorders (type B)—malignancies, nucleoside analogue reverse transcriptase inhibitors in HIV, diabetes mellitus, renal or hepatic failure, thiamine deficiency, severe infections (cholera, malaria), seizures, or drugs/toxins (biguanides, ethanol, methanol, propylene glycol, isoniazid, and fructose).

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  • Human parvovirus B19 (B19) is known to induce apoptosis that has been associated with a variety of autoimmune disorders. Although we have previously reported that B19 non-structural protein (NS1) induces mitochondrial-dependent apoptosis in COS-7 cells, the precise mechanism of B19-NS1 in developing autoimmunity is still obscure.

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