Search results for "Atrophy"
showing 10 items of 385 documents
Morphology of experimentally denervated and reinnervated rat facial muscle I. Histochemical and histological findings
1994
The morphological changes in rat facial muscles were evaluated after permanent denervation and were compared with findings after immediate reinnervation. Thirty rats underwent transection of the left and right facial nerves immediately followed by hypoglossal-facial nerve anastomosis on the right side (muscular reinnervation) and removal of 8-10 mm of the facial plexus on the left side (permanent muscular denervation). Levator labii muscle samples of both sides were collected sequentially at 2, 6, 7, 10, 20, and 24 weeks after surgery and submitted to routine histological and enzyme histochemical staining procedures. In normal levator labii muscles a typical "chessboard" pattern was found, …
Post-translational modifications in the survival motor neuron protein
2004
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by a progressive loss of the spinal motoneurons. The SMA-determining gene has been termed survival motor neuron (SMN) and is deleted or mutated in over 98% of patients. The encoded gene product is a protein expressed as different isoforms. In particular, we showed that the rat SMN cDNA produces two isoforms with Mr of 32 and 35 kDa, both localized in nuclear coiled bodies, but the 32 kDa form is also cytoplasmic, whereas the 35 kDa form is also microsomal. To determine the molecular relationship between these two isoforms and potential post-translational modifications, we performed transfection experiments with a …
Increased cerebrospinal fluid albumin and immunoglobulin A fractions forecast cortical atrophy and longitudinal functional deterioration in relapsing…
2017
Background: Currently, no unequivocal predictors of disease evolution exist in patients with multiple sclerosis (MS). Cortical atrophy measurements are, however, closely associated with cumulative disability. Objective: Here, we aim to forecast longitudinal magnetic resonance imaging (MRI)-driven cortical atrophy and clinical disability from cerebrospinal fluid (CSF) markers. Methods: We analyzed CSF fractions of albumin and immunoglobulins (Ig) A, G, and M and their CSF to serum quotients. Results: Widespread atrophy was highly associated with increased baseline CSF concentrations and quotients of albumin and IgA. Patients with increased CSFIgA and CSFIgM showed higher functional disabilit…
Neurochemical correlates of brain atrophy in fibromyalgia syndrome: a magnetic resonance spectroscopy and cortical thickness study
2020
(1) Background: Recently, a series of clinical neuroimaging studies on fibromyalgia (FM) have shown a reduction in cortical volume and abnormally high glutamate (Glu) and glutamate + glutamine (Glx) levels in regions associated with pain modulation. However, it remains unclear whether the volumetric decreases and increased Glu levels in FM are related each other. We hypothesized that higher Glu levels are related to decreases in cortical thickness (CT) and volume in FM patients. (2) Methods: Twelve females with FM and 12 matched healthy controls participated in a session of combined 3.0 Tesla structural magnetic resonance imaging (MRI) and single-voxel MR spectroscopy focused on the thalami…
Prolonged exposure to microgravity modifies limb endpoint kinematics during the swing phase of human walking
2002
Many neurophysiological and behavioural studies suggested that the lower limb endpoint might be a centrally represented variable within the gravity reference frame and effectively controlled during the locomotion. This investigation examines the effects of prolonged exposure to microgravity upon lower limb endpoint kinematics. Seven cosmonauts were tested before and the 2nd day after a 6 month orbital mission. The spatio-temporal patterns of the limb extremity (malleolus) were analysed during the swing phase of the walk using a motion analysis system. Paths and velocity profiles of endpoint displacements were computed and compared for both the pre- and post-flight walking sessions. The resu…
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
2022
Background Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration. Objectives The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported. Methods We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review. Results PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees. Young onset (median age, 23.0 years) with parkinsonism/dystonia, gait/balance, and/or psychiatric/cognitive symptoms were common presenting features. Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cere…
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB
2020
Abstract DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.
The duodenum in liver cirrhosis: endoscopic, morphological and clinical findings.
1991
Endoscopic studies were performed to determine whether changes occurred in the duodenum related to portal hypertension in patients with liver cirrhosis. The total of 271 patients studied were subdivided into three groups: 83 patients with liver cirrhosis and portal hypertension, 53 with liver cirrhosis but no portal hypertension, and 135 controls. In the duodenum of cirrhotic patients with portal hypertension several changes were observed on endoscopy that were also present in the other two groups. Atrophy and vascular malformations, however, were present only in the duodenum of cirrhotic patients with portal hypertension, although in only a few patients and with statistical significance on…
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration
2018
Mitochondrial Fission Factor (MFF) is part of a protein complex that promotes mitochondria and peroxisome fission. Hitherto, only 5 patients have been reported harboring mutations in MFF, all of them with the clinical features of a very early onset Leigh-like encephalopathy. We report on an 11-year-old boy with epileptic encephalopathy. He presented with neurological regression, epileptic myoclonic seizures, severe intellectual disability, microcephaly, tetraparesis, optic atrophy, and ophthalmoplegia. Brain MRI pattern was compatible with Leigh syndrome. NGS-based analysis of a gene panel for mitochondrial disorders revealed a homozygous c.892C>T (p. Arg298*) in the MFF gene. Fluorescen…
Radiotherapy before or during androgen-deprivation therapy does not blunt the exercise-induced body composition protective effects in prostate cancer…
2021
Background Androgen deprivation therapy (ADT) contributes to lean mass loss and adiposity increases in prostate cancer patients. Radiotherapy during ADT might act synergistically and further worsen body composition. Previous investigations have shown that resistance training is an effective method of preserving body composition during ADT, however, most have not accounted for direct or indirect effects of other therapies, such as radiotherapy. Therefore, the purpose of this study was to examine training adaptations of the tissue composition in patients receiving radiation therapy (RT) prior or during ADT. Methods Analyses were performed by combining data from two previous trials for a total…