Adv Exp Med Biol
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Retinitis pigmentosa (RP) encompasses a heterogeneous group of inherited retinal disorders characterized by progressive photoreceptor and/or retinal pigment epithelial (RPE) degenerations with a prevalence approximately 1 in 4000 in the general population. Over 70 causative genes have been defined in RP families, and a number of animal models have been identified so far. ⋯ Therapeutics advancements have been achieved including gene therapy, pharmacotherapy, cell replacement, neurotrophic factors, and retinal prosthesis. In this review, we focus on the pharmaceutical drugs for RP with emphases on the context of drug discovery, development, and clinical translation.
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Scientific reports underscore the importance of measuring the health-related quality of life in sarcoidosis patients. The present study seeks to define how sarcoidosis patients' quality of life, daily physical activity, and physical performance are related to each other. Seventeen patients (mean age 46.8 ± 8.8 years) suffering from sarcoidosis completed the following questionnaires: the fatigue assessment scale (FAS), the quality of life scale (SF-36 questionnaire), and the Borg dyspnea scale. ⋯ In contrast, SF-36 scores associated with fatigue and dyspnea scores (r = 0.72; p < 0.001 and r = 0.85; p < 0.001). These findings imply that sarcoidosis patients are less active compared with healthy subjects. The FAS and SF-36 scales seem to be effective tools for assessing the severity of fatigue in sarcoidosis patients.
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The expression of light-sensitive microbial opsins is a promising mutation-independent approach to restore vision in retinal degenerative diseases. Using viral vectors, optogenetic tools can be genetically expressed in various subpopulations of retinal neurons. The choice of cell type depends on the availability of surviving retinal cells. ⋯ In late-stage degeneration, when bipolar cells degenerate, "artificial photoreceptors" can be made from retinal ganglion cells, but with this approach, upstream retinal processing cannot be utilized. However, when ganglion cells are stimulated directly, higher brain regions might be able to compensate for some loss of retinal processing, which is indicated by clinical studies with epiretinal implants, where patients can perform simple visual tasks. Finally, optogenetics in combination with neuroprotective approaches could serve as a valuable strategy to restore the function of remaining cells, as well as to rescue retinal neurons from progressive degeneration.
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Cerebral venous thrombosis is an important cause of stroke in the young. Unlike venous thromboembolism (VTE), women are affected three times more often than men by CVT. The most common symptoms are headache, seizures and focal neurological deficits. ⋯ Small studies have shown promising results of endovascular treatment in severe patients, but these data require confirmation in a randomized trial. In patients who develop clinical and radiological signs of impending herniation decompressive surgery can be both life-saving and result in a good functional outcome. The prognosis is nowadays favorable in most cases, especially compared to arterial stroke, although a significant proportion of patients do suffer from chronic symptoms.
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Mitochondria are essential double-membraned cytoplasmic organelles to support aerobic respiration and produce cellular energy by oxidative phosphorylation (OXPHOS). Mitochondrial functions are controlled by mitochondrial (mtDNA) and nuclear genomes (nDNA). Mutations of mtDNA result in mitochondrial dysfunction and multisystem diseases through compromising OXPHOS function directly by a point mutation or a large-scale mtDNA rearrangement. ⋯ Unlike diploid nDNA, mtDNA is a multi-copy genome transmitted and maternally inherited through oocyte. The multi-copy nature of mtDNA easily causes the heteroplasmy as a unique aspect of mtDNA, making mitochondrial diseases more complex and heterogeneous. mtDNA-associated mitochondrial dysfunction plays the important role in the development of multisystemic primary mitochondrial disease, neurodegeneration, and cancer. The present article overviews the occurrence of mtDNA mutation, interactions with other factors, and molecular mechanisms of mtDNA-associated diseases.