Search results for "Atrophy"
showing 10 items of 385 documents
GSK3β overexpression induces neuronal death and a depletion of the neurogenic niches in the dentate gyrus
2010
Overexpression of GSK3β in transgenic mice induces learning deficits and some features associated with Alzheimer's disease (AD), including dentate gyrus (DG) atrophy. Here, we assessed whether these mice also recapitulate DG atrophy as well as impaired neurogenesis reported in AD. Ultrastructural analysis revealed that there were fewer and more disorganized neurogenic niches in these animals, coupled with an increase in the proportion of immature neurons. Indeed, the maturation of granule cells is delayed as witnessed by the alterations to the length and patterning of their dendritic trees and to the mossy fiber terminals. Together with an increase in neuronal death, these phenomena lead to…
Consenso Delphi de las recomendaciones para el tratamiento de los pacientes con atrofia muscular espinal en España (consenso RET-AME)
2021
Resumen Introduccion La atrofia muscular espinal (AME) es una enfermedad neurodegenerativa, causada por una mutacion bialelica del gen 5q SMN1, que afecta predominantemente a las neuronas motoras del asta anterior medular causando una progresiva debilidad y atrofia muscular. La aparicion de tratamientos modificadores del curso de la enfermedad esta cambiando considerablemente la historia natural de la AME, pero existe todavia incertidumbre sobre que pacientes se pueden beneficiar de estos tratamientos y como se deberia medir ese beneficio. Metodologia Un grupo de expertos especialistas en neurologia, neuropediatria y rehabilitacion, y de la asociacion de pacientes con AME de Espana, analiza…
Identification of Novel Wsf1 Mutations in a Sicilian Child with Wolfram Syndrome
2014
Wolfram Syndrome (WS) is a rare hereditary disease with autosomal recessive inheritance with incomplete penetrance. It is characterized by diabetes mellitus associated with progressive optic atrophy. The diagnosis is essentially clinical and mutation analysis is used to confirm the diagnosis. In the present study we describe the clinical and molecular features of a diabetic child carrying two novel WFS1 mutations. The Sicilian proband and his non-affected family were studied. Ophthalmologic examination included: visual acuity determination and funduscopy, optical coherent tomography, retinal fluorangiography, perimetry and electroretinogram. Molecular methods: automatic sequencing of PCR am…
Birth Size and Brain Function 75 Years Later
2014
BACKGROUND: There are several lines of evidence pointing to fetal and other early origins of diseases of the aging brain, but there are no data directly addressing the hypotheses in an older population. We investigated the association of fetal size to late-age measures of brain structure and function in a large cohort of older men and women and explored the modifying effect of education on these associations. METHODS: Within the AGES (Age Gene/Environment Susceptibility)-Reykjavik population-based cohort (born between 1907 and 1935), archived birth records were abstracted for 1254 men and women who ∼75 years later underwent an examination that included brain MRI and extensive cognitive ass…
CARDIOMETABOLIC SYNDROME AND SARCOPENIC OBESITY IN OLDER PERSONS
2007
The aging of the world's population is a major contributor to the growing prevalence of the cardiometabolic syndrome (CMS) because older persons are more affected by the constellation of cardiovascular risk factors that constitute the syndrome. The prevalence of CMS has been related to the increasing prevalence of obesity, which is growing progressively even among older age groups. Indeed, obesity and aging are 2 overlapping mounting public health problems. It is currently accepted that CMS predicts cardiovascular mortality and/or the development of type 2 diabetes mellitus, and this is also true in studies including older persons. CMS is further complicated by modifications in body composi…
The loss of muscle mass and sarcopenia: non hormonal intervention.
2011
Muscle aging is a key component of the increase in frailty in human populations. The generation of critical levels of power is a prerequisite to perform simple tasks of daily living, such as rising from a chair or climbing stairs. There is great scientific and social interest to determine which behaviors can lead to the maintenance of the muscle mass in young immobilized subjects and in the elderly. Several hormonal treatments have been proposed for the treatment of sarcopenia. However, the side effects associated to these treatments emphasize the need of finding non-toxic and non-hormonal treatments that help increase muscle strength, improve muscle function, and decrease the degree of dep…
New Molecular Targets and Lifestyle Interventions to Delay Aging Sarcopenia
2014
The term sarcopenia was originally created to refer age-related loss of muscle mass with consequent loss of strength (Morley et al., 2001). There are now four international definitions of sarcopenia (Cruz-Jentoft et al., 2010; Muscaritoli et al., 2010; Morley et al., 2011). In essence they all agree, requiring a measure of walking capability [either low gait speed or a limited endurance (distance) in a 6-min walk], together with an appendicular lean mass of <2 SDs of a sex and ethnically corrected normal level for individuals 20–30 years old. Sarcopenia is a prevalent health problem among the elderly. On average, 5–13 and 11–50% of people aged 60−70 years and ≥80 years, respectively suffer …
Treatment of giardiasis reverses "active" coeliac disease to "latent" coeliac disease.
2001
In patients with coeliac disease, a regression of intestinal damage without a gluten-free diet is a very rare event. We describe a young child with diarrhoea, intestinal mucosa atrophy and positive serum anti-endomysial and anti-tissue transglutaminase (anti-tTG) antibodies during intestinal giardiasis infection. He showed normal intestinal mucosa architecture and negative anti-endomysial and anti-tTG antibodies after his giardiasis was cured, although he continued to assume a normal diet. Re-evaluations on a 6-monthly basis showed that he was symptom free, and all haemato-chemical parameters were within normal limits. Three years after the initial diagnosis, a third intestinal biopsy showe…
Carrier screening for spinal muscular atrophy in Italian population
2014
Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy. The responsible survival motor neuron gene (SMN1; HGNC: 11117) is localized in 5q11.2-13.3. Screening for carriers of SMA is necessary for effective clinical/prenatal diagnosis and genetic counselling. In this study, the copy number of SMN1 gene was determined from a southern Italian population to estimate carrier frequency. This is the first report addressing the estimation of SMA carrier frequency in an Italian population. Our results show that the SMA carrier …
Expression Profile of Stress Proteins, Intermediate Filaments, and Adhesion Molecules in Experimentally Denervated and Reinnervated Rat Facial Muscle
1997
The immunohistochemical profiles of ubiquitin, heat shock protein 70, alpha-B-crystallin, desmin, vimentin, neural cell adhesion molecule (N-CAM), and tenascin in rat facial muscle were studied after permanent denervation by transection of the facial plexus on one side and compared with findings after immediate reinnervation by hypoglossal-facial nerve anastomosis subsequent to transection on the contralateral side. Levator labii muscle samples were collected sequentially at 2, 6, 7, 10, 20, and 24 weeks after surgery. Normal levator labii muscle fibers showed physiological expression of desmin and alpha-B-crystallin. Denervated rat facial muscle displayed distinct up-regulation of ubiquiti…