Search results for "Sclerosis"

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regula…

2015

Background Collagen VI related myopathies encompass a range of phenotypes with involvement of skeletal muscle, skin and other connective tissues. They represent a severe and relatively common form of congenital disease for which there is no treatment. Collagen VI in skeletal muscle and skin is produced by fibroblasts. Aims & Methods In order to gain insight into the consequences of collagen VI mutations and identify key disease pathways we performed global gene expression analysis of dermal fibroblasts from patients with Ullrich Congenital Muscular Dystrophy with and without vitamin C treatment. The expression data were integrated using a range of systems biology tools. Results were validat…

Prognostic Role of CSF β-amyloid 1–42/1–40 Ratio in Patients Affected by Amyotrophic Lateral Sclerosis

2021

The involvement of β-amyloid (Aβ) in the pathogenesis of amyotrophic lateral sclerosis (ALS) has been widely discussed and its role in the disease is still a matter of debate. Aβ accumulates in the cortex and the anterior horn neurons of ALS patients and seems to affect their survival. To clarify the role of cerebrospinal fluid (CSF) Aβ 1–42 and Aβ 42/40 ratios as a potential prognostic biomarker for ALS, we performed a retrospective observational study on a cohort of ALS patients who underwent a lumbar puncture at the time of the diagnosis. CSF Aβ 1–40 and Aβ 1–42 ratios were detected by chemiluminescence immunoassay and their values were correlated with clinical features. We found a signi…

Direct and indirect affection of the central nervous system by Fasciola infection

2013

Fascioliasis is a worldwide, zoonotic disease caused by the liver trematodes Fasciola hepatica and Fasciola gigantica. Neurological fascioliasis has been widely reported in all continents, affecting both sexes and all ages. Two types of records related to two physiopathogenic mechanisms may be distinguished: cases in which the neurological symptoms are due to direct effects of a migrating juvenile present in the brain or neighboring organ and with cerebral lesions suggesting migration through the brain; and cases with neurological symptoms due to indirect immuno-allergic and toxic effects at distance from flukes in the liver. Neurological manifestations include minor symptoms, mainly cephal…

Hemostatic Alterations in Peripheral Arteriopathies

1985

The most common cause of obliterative disease in limb arteries is slowly progressive arteriosclerosis which is eventually superimposed by thrombosis.

P23. Large demyelinating lesion of the pons as a cause of a locked-in syndrome in multiple sclerosis

2007

Multifocal Ischemic Brain-Stem Lesions

1993

The clinical symptoms and signs of brain-stem ischemia are far less well defined than in ischemia due to carotid or middle cerebral artery disease. They consist of many different syndromes, and it is often difficult to correlate the clinical findings with a single functional or morphological lesion within the brain-stem.

Modified lipoproteins as contrast agents for imaging of atherosclerosis.

2007

The ability to detect and characterize atherosclerosis with targeted contrast agents may enable initiation of therapy for atherosclerotic lesions prior to becoming symptomatic. Since lipoproteins such as high-density lipoprotein (HDL) and low-density lipoprotein (LDL) play a critical role in the regulation of plaque biology through the transport of lipids into and out of atherosclerotic lesions, modifying HDL and LDL with radioisotopes for nuclear imaging, chelates for magnetic resonance imaging (MRI) or other possible contrast agents for computed tomography imaging techniques may aid in the detection and characterization of atherosclerosis. This review focuses on the literature employing l…

What is the relationship between chronic cerebrospinal venous insufficiency and multiple sclerosis?

2013

Abstract Although most of the research on multiple sclerosis was focused on its autoimmune aspects, researchers were also considering the roles of other factors, including vascular background of the disease. The idea that multiple sclerosis might be caused by stenoses of the veins draining the brain and spinal cord (the so-called chronic cerebrospinal venous insufficiency), is currently hotly debated by scientific community. Despite conflicting reports, chronic cerebrospinal venous insufficiency seems to be a real clinical phenomenon. However, it remains uncertain how it should be defined and which tests should be used for its detection. Probably this vascular abnormality should be primaril…

Subtle retinal pathology in amyotrophic lateral sclerosis

2014

Amyotrophic lateral sclerosis (ALS) is characterized by neuro-ophthalmological abnormalities beyond disturbed oculomotor control such as decreased visual acuity and disturbed visual evoked potentials. Here we report retinal alterations in a cohort of 24 patients with clinically definite (n = 20) or probable (n = 4) ALS as compared to matched controls. High-resolution spectral domain optical coherence tomography with retinal segmentation revealed a subtle reduction in the macular thickness and the retinal nerve fiber layer (RNFL) as well as a marked thinning of the inner nuclear layer (INL). Our data indicate an unprecedented retinal damage pattern and suggest neurodegeneration beyond the mo…

Four cases of progressive multifocal leukoencephalopathy in iatrogenic immunocompromised patients

2020

Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system (CNS) caused by John Cunningham Virus (JCV). We report four PML cases in immunocompromised patients, respectively treated with (1) Natalizumab, (2) Rituximab, (3) autologous stem-cell transplantation, and (4) Tacrolimus. All patients underwent neurological examination, magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), JCV-DNA research on biological samples, and lymphocytes subpopulation study. All cases presented with motor, behavioural, and cognitive disorders. Visual, sensitive, and cerebellar deficits developed in three cases. MRI revealed widespread progressiv…