Search results for "progressive"

Correlation between CD117+ myeloma plasma cells and hematopoietic progenitor cells in different categories of patients

2015

Background Multiple myeloma (MM) is a neoplastic disorder of plasma cells interesting mainly the elderly. MM remains an incurable disease, mostly because of the strong interplay between clonal plasma cells (cPCs) and bone marrow (BM) microenvironment. Multiparameter flow cytometry (MFC) allows the simultaneous study of the cPC immunophenotype and alterations involving other cells in BM, but rarely these data are interpreted as connected. One exception to this habit are previous studies about relationship between CD117 cPC positivity and hematopoietic progenitor cell (HPC) distribution in newly diagnosed patients. Thus we were interested in verifying the distribution of BM CD34+ HPCs in heal…

Longitudinal 18F-FDG PET and MRI Reveal Evolving Imaging Pathology That Corresponds to Disease Progression in a Patient With ALS-FTD

2019

Single time point positron emission tomography (PET) studies of patients with amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD), have demonstrated hypometabolism or hypermetabolism in certain brain regions. To determine whether longitudinal (at baseline and 20.4 months later) PET and magnetic resonance imaging (MRI) reveal evolving brain imaging pathology corresponding to clinical progression in a patient with ALS-FTD, cerebral glucose metabolic rate, cortical thickness (CT) and cortical area (CA) were obtained and symmetric percent change (SPC) for each calculated. The patient had worsening symptoms and signs of bulbar-onset upper motor neuron-predominant ALS as well as l…

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

2021

6 páginas, 2 figuras

Acid ceramidase deficiency: Farber lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolys…

2020

Abstract An inherited deficiency of the lysosomal enzyme ceramidase leads to accumulation of the sphingolipid ceramide in several organs such as skin, liver, brain and other tissues, resulting in a broad spectrum of clinical manifestations. The most common form, called Farber lipogranulomatosis, is characterized by subcutaneous skin nodules and a progressive hoarseness, in many cases also the central nervous system is affected. A lethal hydrops fetalis represents the most severe form. A ceramidase deficiency was also found in a few patients in whom neurological symptoms such as spinal muscular atrophy and myoclonus epilepsy dominated the clinical picture, in other adult patients peripheral …

Characteristic morphologic manifestation of CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in s…

1997

Neuronal and BBB damage induced by sera from patients with secondary progressive multiple sclerosis.

2009

An important component of the pathogenic process of multiple sclerosis (MS) is the blood-brain barrier (BBB) damage. We recently set an in vitro model of BBB, based on a three-cell-type co-culture system, in which rat neurons and astrocytes synergistically induce brain capillary endothelial cells to form a monolayer with permeability properties resembling those of the physiological BBB. Herein we report that the serum from patients with secondary progressive multiple sclerosis (SPMS) has a damaging effect on isolated neurons. This finding suggests that neuronal damaging in MS could be a primary event and not only secondary to myelin damage, as generally assumed. SPMS serum affects the perme…

Progressive cerebellar ataxia in juvenile GM 2 -gangliosidosis type Sandhoff

1998

Ultrastructural study of primary canine and human pigmentary retinopathy

1985

An electron microscopic study was performed on eyes of Labrador dogs afflicted with progressive retinal atrophy (PRA). There was complete loss of photoreceptors, atrophy of the remaining retina and gliosis in the peripheral part while the central retina showed incomplete loss of photoreceptors and an almost total disappearance of photoreceptor outer segments. Melanin-bearing cells, largely containing melanolysosomes, were found deep inside the retina. This electron microscopic study also incorporated the retina of a middle-aged woman affected by retinopathia pigmentosa (RP). The fine structure of the diseased retina showed a similar pattern of lesions, more pronounced in the periphery of th…

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…

Depressive Symptom Profiles Predict Specific Neurodegenerative Disease Syndromes in Early Stages

2020

Background: During early stages, patients with neurodegenerative diseases (NDG) often present with depressive symptoms. However, because depression is a heterogeneous disorder, more precise delineation of the specific depressive symptom profiles that arise early in distinct NDG syndromes is necessary to enhance patient diagnosis and care. Methods and Findings: Five-hundred and sixty four participants self-reported their depressive symptoms using the Geriatric Depression Scale (GDS), including 111 healthy older control subjects (NC) and 453 patients diagnosed with one of six NDGs who were at the mild stage of disease (CDR® Dementia Staging Instrument ≤ 1) [186 Alzheimer's disease (AD), 76 be…