Paraproteinemic maculopathy can be unilateral. Decreasing the blood immunoglobulin level is the primary goal of therapy for paraproteinemic maculopathy, and this can be achieved by a systemic route. Coexisting diabetes facilitates leakage of immunoglobulins at lower levels than in nondiabetics.
Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterizing the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care.
Objective The homocysteine level is considered an important cardiocerebral risk factor. Our aim was to investigate the impact of endurance training on the homocysteine cycle in élite and non-élite athletes. Methods The level of physical activity was measured using a SenseWear armband in five healthy marathon runners. Two blood samples, the first under basal conditions and the second after running a half marathon, were obtained in all subjects by venepuncture. Biochemical parameters, including total homocysteine levels, were assessed. Results Armband data indicated that each athlete ran the half marathon keeping a race pace close to their anaerobic threshold speed. Although the run times were very different between élite and non-élite athletes, a statistically significant increase in plasma homocysteine levels (p=0.026) was observed in all runners. Conclusion Endurance training for 75-100 min held at a race pace close to the anaerobic threshold speed induces an increase in serum plasma homocysteine level.
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