Search results for "Atrophy"
showing 10 items of 385 documents
Association of smoking but not HLA-DRB1*15:01, APOE or body mass index with brain atrophy in early multiple sclerosis
2019
Background: The course of multiple sclerosis (MS) shows substantial inter-individual variability. The underlying determinants of disease severity likely involve genetic and environmental factors. Objective: The aim of this study was to assess the impact of APOE and HLA polymorphisms as well as smoking and body mass index (BMI) in the very early MS course. Methods: Untreated patients ( n = 263) with a recent diagnosis of relapsing-remitting (RR) MS or clinically isolated syndrome underwent standardized magnetic resonance imaging (MRI). Genotyping was performed for single-nucleotide polymorphisms (SNPs) rs3135388 tagging the HLA-DRB1*15:01 haplotype and rs7412 (Ɛ2) and rs429358 (Ɛ4) in APOE. …
Evidence for early, non-lesional cerebellar damage in patients with multiple sclerosis: DTI measures correlate with disability, atrophy, and disease …
2015
Background: Common symptoms of multiple sclerosis (MS) such as gait ataxia, poor coordination of the hands, and intention tremor are usually the result of dysfunctionality in the cerebellum. Magnetic resonance imaging (MRI) has frequently failed to detect cerebellar damage in the form of inflammatory lesions in patients presenting with symptoms of cerebellar dysfunction. Objective: To detect microstructural cerebellar tissue alterations in early MS patients with a “normal appearing” cerebellum using diffusion tensor imaging (DTI). Methods: A total of 68 patients with relapsing–remitting MS (RRMS) and without cerebellar lesions and 26 age-matched healthy controls were admitted to high-resolu…
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
2000
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases). Twelve of the 53 patients showed cardiac involvement exclusively, although the remaining 41 all showed muscle weakness and contractures. We were able to identify …
Gray matter network reorganization in multiple sclerosis from 7‐Tesla and 3‐Tesla MRI data
2020
[Objective]: The objective of this study was to determine the ability of 7T‐MRI for characterizing brain tissue integrity in early relapsing‐remitting MS patients compared to conventional 3T‐MRI and to investigate whether 7T‐MRI improves the performance for detecting cortical gray matter neurodegeneration and its associated network reorganization dynamics.
Taking both sides: do unilateral anterior temporal lobe lesions disrupt semantic memory?
2010
The most selective disorder of central conceptual knowledge arises in semantic dementia, a degenerative condition associated with bilateral atrophy of the inferior and polar regions of the temporal lobes. Likewise, semantic impairment in both herpes simplex virus encephalitis and Alzheimer's disease is typically associated with bilateral, anterior temporal pathology. These findings suggest that conceptual representations are supported via an interconnected, bilateral, anterior temporal network and that it may take damage to both sides to produce an unequivocal deficit of central semantic memory. We tested and supported this hypothesis by investigating a case series of 20 patients with unila…
Temporal lobe grey matter volume in schizophrenia is associated with a genetic polymorphism influencing glycogen synthase kinase 3-beta activity
2010
At the crossroad of multiple pathways regulating trophism and metabolism, glycogen synthase kinase (GSK)3 is considered a key factor in influencing the susceptibility of neurons to harmful stimuli (neuronal resilience) and is a target for several psychiatric drugs that directly inhibit it or increase its inhibitory phosphorylation. Inhibition of GSK3 prevents apoptosis and could protect against the neuropathological processes associated with psychiatric disorders. A GSK3-beta promoter single-nucleotide polymorphism (rs334558) influences transcriptional strength, and the less active form was associated with less detrimental clinical features of mood disorders. Here we studied the effect of r…
Histological findings in direct inguinal hernia
2013
Abstract BACKGROUND: The study is focused on recognizing the histological changes of the structures close to and around the hernia opening in patients having direct inguinal hernia. METHODS: In 15 patients with primary bilateral direct inguinal hernia who underwent a Stoppa open posterior inguinal hernia repair, tissue specimens from the abdominal wall surrounding a direct hernia border were excised for histological examination. These findings in patients with direct inguinal hernia were compared with tissue specimens excised from the fossa inguinalis media of cadavers without hernia. RESULTS: Significant degenerative modifications such as fibrohyaline degeneration and fatty substitution of…
Muscle kinematics during isometric contraction: Development of phase contrast and spin tag techniques to study healthy and atrophied muscles
2004
Purpose To develop and compare phase-contrast (PC) and spin-tag (ST) MR imaging techniques for accurate quantification of velocity and displacement distribution in the muscle tendon complex of the lower leg during isometric contractions under in vivo conditions, in healthy subjects and subjects with atrophy. Materials and Methods Techniques were developed to acquire PC and ST dynamic images, gated to the force exerted by a subject during isometric contraction. Algorithms were optimized for correction of phase shading errors. Flow velocity quantification was validated in phantoms and ex vivo rabbit muscles. Trajectories of pixels calculated from PC images were compared with those in ST image…
Effect of chronic unloading and rehabilitation on human Achilles tendon properties: a velocity-encoded phase-contrast MRI study
2008
The objective of this study was to measure and monitor changes in Achilles tendon mechanical properties and force production capability of triceps surae muscles after 4 wk of limb suspension and 6 wk of physical rehabilitation. Five healthy volunteers underwent unilateral lower limb suspension followed by weekly physiotherapy. A velocity-encoded, phase-contrast magnetic resonance imaging (VE-PC-MRI) technique was used to estimate the tendon strain as a function of force produced during the submaximal isometric contractions. After limb suspension, triceps surae muscle strength decreased to 53.2 ± 15.6% (mean ± SD) of the presuspension level ( P < 0.05). Young's modulus, estimated from the…
Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?
1985
Peroneal muscular atrophy is now known to be heterogeneous and to be due to various underlying genetic mechanisms. Exploring this heterogeneity further, we report on a German kinship with the clinical, genetic, and nerve conduction features of hereditary motor and sensory neuropathy type II (HMSN type II) but whose sural nerves on biopsy were found to show infrequent axonal swellings with neurofilament accumulations not previously described. The dominant inheritance and absence of kinky hair set this disorder apart from giant axonal neuropathy. There was no history of toxic exposure to industrial chemicals. We conclude that the disorder either is a new type of HMSN or is HMSN type II with p…