Search results for "Spinal"

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

2021

6 páginas, 2 figuras

High sensitivity of free lambda and free kappa light chains for detection of intrathecal immunoglobulin synthesis in cerebrospinal fluid.

2008

Background –  So far, an inflammation of the central nervous system (CNS) is diagnosed by immunoglobulin measurement in cerebrospinal fluid (CSF) and serum as well as by determination of the oligoclonal bands. With the free kappa and lambda light chains, new markers to diagnose intrathecal synthesis are available. Methods –  In addition to routine diagnostic tests and the assessment of standard parameters, free immunoglobulin light chains were measured in the CSF of patients with neurological disorders. Results –  A significant agreement was found between an increase in free kappa light chain CSF serum quotients and results of the currently widely applied method of oligoclonal band measurem…

May Autologue Fibrin Glue Alone Enhance Ossification? An Unexpected Spinal Fusion.

2016

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 …

S100α and S100β proteins in human cutaneous sensory corpuscles: Effects of nerve and spinal cord injury

1998

S100 protein in the vertebrate peripheral nervous system consists of homo- or heterodimers of S100α and S100β proteins, the first predominating in neurons and the second in glial cells. Recently, however, occurrence of S100β protein in neurons has been reported. The expression of S100 protein by Schwann cells, as well as their derivatives in sensory corpuscles, depends on the sensory axon (i.e., the Schwann cell–axon contact). The present study analyzed the distribution of S100α and S100β proteins in human cutaneous sensory corpuscles and the effects of peripheral or central sensory axon severance in the expression of these proteins. Simple or double immunohistochemistry was carried out usi…

Clearance of Edema Fluid into Cerebrospinal Fluid

1983

The formation of cerebral edema appears to be the response of the brain to injury from a diversity of causes, in association with tumors, trauma, and infections, as well as toxic, anoxic, and metabolic disorders. The classification by Klatzo14 of cerebral edema into two major categories, vasogenic edema and cytotoxic edema, has clarified our understanding of this pathological problem. A third category has been termed interstitial 10 or hydrocephalic 17 edema. The various processes are not mutually exclusive. In ischemic brain edema, changes characteristic of vasogenic and cytotoxic cerebral edema occur, and in subarachnoid hemorrhage, all three types of edematous changes may develop. Nevert…

Exploring the Virchow-Robin spaces function: A unified theory of brain diseases.

2016

Background: Cerebrospinal fluid (CSF) transport across the central nervous system (CNS) is no longer believed to be on the conventional lines. The Virchow-Robin space (VRS) that facilitates CSF transport from the basal cisterns into the brain interstitial fluid (ISF) has gained interest in a whole new array of studies. Moreover, new line of evidence suggests that VRS may be involved in different pathological mechanisms of brain diseases. Methods: Here, we review emerging studies proving the feasible role of VRS in sleep, Alzheimer's disease, chronic traumatic encephalopathy, and traumatic brain injury (TBI). Results: In this study, we have outlined the possible role of VRS in different path…

Clinical spectrum of BICD2 mutations.

2020

Background and purpose Mutations in the BICD2 gene cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated. Methods We collected clinical data from 11 patients from five different families carrying mutations in BICD2. Genetic diagnosis was achieved using gene panel testing and skin biopsies were taken from two patients to study the epidermal nerve fiber density. Results In the studied patients, three …

Amphotericin B Penetrates into the Central Nervous System through Focal Disruption of the Blood-Brain Barrier in Experimental Hematogenous Candida Me…

2019

Hematogenous Candida meningoencephalitis (HCME) is a life-threatening complication of neonates and immunocompromised children. Amphotericin B (AmB) shows poor permeability and low cerebrospinal fluid (CSF) concentrations, but is effective in treatment of HCME. In order to better understand the mechanism of CNS penetration of AmB, we hypothesized that AmB may achieve focally higher concentrations in infected CNS lesions. An in vitro BBB model was serially infected with C. albicans. Liposomal AmB (LAMB) or deoxycholate AmB (DAMB) at 5 μg/ml were then provided, vascular and CNS compartments were sampled 4h later. For in vivo correlation, rabbits with experimental HCME received a single dose of…

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…