Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome

2008 ◽  
Vol 509 (6) ◽  
pp. 642-660 ◽  
Author(s):  
Hendrik Luuk ◽  
Sulev Koks ◽  
Mario Plaas ◽  
Jens Hannibal ◽  
Jens F. Rehfeld ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Symptoms ◽  
Wolfram Syndrome ◽  
The Central Nervous System

Primary Leptomeningeal Gliomatosis in Children and Adults: A Morphological and Molecular Comparative Study With Literature Review

Neurosurgery ◽  
2015 ◽  
Vol 78 (3) ◽  
pp. 343-352 ◽  
Author(s):  
Arnault Tauziede-Espariat ◽  
Andre Maues de Paula ◽  
Melanie Pages ◽  
Annie Laquerriere ◽  
Emilie Caietta ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Overall Survival ◽  
Cerebrospinal Fluid ◽  
Nervous System ◽  
Clinical Symptoms ◽  
Malignant Gliomas ◽  
Leptomeningeal Gliomatosis ◽  
Molecular Features ◽  
The Central Nervous System ◽  
The Mean

Abstract BACKGROUND: Primary leptomeningeal gliomatosis (PLG) is a poorly recognized tumor of the central nervous system. OBJECTIVE: To describe the histopathological, immunohistochemical, and molecular features of PLG. METHODS: Results of our multicentric retrospective study of 6 PLG cases (3 pediatric and 3 adult) were compared with literature data. RESULTS: The mean age was 54.7 years for adults and 8.7 years for children, with 3 males and 3 females. Clinical symptoms were nonspecific. Cerebrospinal fluid analyses showed a high protein level often associated with pleocytosis but without neoplastic cells. On neuroimaging, diffuse leptomeningeal enhancement and hydrocephalus were observed, except in 1 case. PLG was mostly misinterpreted as infectious or tumoral meningitis. The first biopsy was negative in 50% of cases. Histopathologically, PLG cases corresponded to 1 oligodendroglioma without 1p19q codeletion and 5 astrocytomas without expression of p53. No immunostaining for IDH1R132H and no mutations of IDH1/2 and H3F3A genes were found. Overall survival was highly variable (2-82 months) but seems to be increased in children treated with chemotherapy. CONCLUSION: This study shows the difficulties of PLG diagnosis. The challenge is to achieve an early biopsy to establish a diagnosis and to begin a treatment, but the prognosis remains poor. PLG seems to have a different molecular and immunohistochemical pattern compared with intraparenchymal malignant gliomas.

Mucopolysaccharidosis in Adults

2016 ◽  
Author(s):  
Christian J. Hendriksz ◽  
Francois Karstens
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Cell Types ◽  
Type Ii ◽  
System P ◽  
Different Types ◽  
The Central Nervous System ◽  
Different Cell Types

There are 8 different types of diseases of the mucopolysaccharides, each caused by a deficiency in one of 10 different enzymes involved in the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate within the lysosomes of many different cell types and lead to clinical symptoms and excretion of large amounts of GAGs in the urine. Heritability is autosomal recessive except for MPS type II, which is X-linked. The disorders are chronic and progressive and, although the specific types all have their individual features, they share an abundance of clinical similarities. All involve the musculoskeletal, the cardiovascular, the pulmonary and the central nervous system.

scholarly journals Primary Angiitis of the Center Nervous System: A Clinical Challenge Diagnosed Postmortem

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Bayan Al Share ◽  
Ali Zakaria ◽  
Evan Hiner ◽  
Ziyad Iskenderian ◽  
Nader Warra
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Imaging Techniques ◽  
Systemic Vasculitis ◽  
Comfort Care ◽  
Systemic Involvement ◽  
Primary Angiitis ◽  
The Central Nervous System

Primary angiitis of the central nervous system (PACNS) is a rare vasculitis involving medium and small blood vessels of the brain, spinal cord, and meninges, without systemic involvement. The diffuse and patchy nature of its pathology is reflected by a wide spectrum of nonspecific clinical symptoms. Diagnosis is challenging due to lack of defined clinical criteria or specific imaging findings. Specific workup should be done only after exclusion of other etiologies, including infectious, neoplastic, toxic, and other vascular etiologies including systemic vasculitis. Given the fact that it is a patchy disease with 25% of the biopsies being falsely negative, treating physician should have a high index of suspicion despite negative initial neurovascular imaging and biopsy results. Once diagnosed, early treatment with immunosuppressive therapy is essential to avoid permanent neurologic damage. Herein, we are reporting a case of 66-year-old female patient who presented with insidious onset right-sided frontal headache. Her hospital course progressively worsened and family decision based on her wishes was to refer her to hospice and comfort care. Despite an extensive workup with advanced imaging techniques, no diagnosis was established until postmortem autopsy and histopathology confirmed primary angiitis of the central nervous system.

scholarly journals Progressive multifocal leukoencephalopathy in HIV-infected patients: clinical features and diagnosis (literature review)

2019 ◽  
Vol 11 (3) ◽  
pp. 5-12
Author(s):  
E. A. Samotolkina ◽  
A. V. Pokrovskaya ◽  
S. V. Matosova ◽  
E. A. Domonova
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Progressive Multifocal Leukoencephalopathy ◽  
Cellular Immunity ◽  
Clinical Symptoms ◽  
Neurological Symptoms ◽  
Diagnostic Methods ◽  
Human Polyomavirus ◽  
Effective Prevention ◽  
The Central Nervous System

Progressive multifocal leukoencephalopathy (PML) is one of the most severe opportunistic diseases of the central nervous system, which leads to multiple demyelination of brain structures, neurological symptoms and frequent death or disability of the patient. The etiological factor of this disease is Human polyomavirus 2 (JCPyV).This pathogen is widespread – antibodies are found in 80% of the world›s population. However, the clinical symptoms of this infection appear only in people with a pronounced decline in cellular immunity. Until 1980 progressive multifocal leukoencephalopathy was extremely rarely diagnosed. Now days the main cause of the clinical symptoms of PML is immunodeficiency caused by HIV infection. Clinical manifestations of PML are characterized by various non-specific neurological symptoms, similar to other lesions of the central nervous system, the symptoms progress slowly over several months, and usually lead to death. Diagnosis of PML is based on laboratory and instrumental methods, such as DNA JCPyV detection in the cerebrospinal fluid, brain biopsy, and radiation diagnostic methods. There is no effective prevention and etiotropic therapy for PML. Improved parameters of cellular immunity and antiretroviral treatment in HIV positive patients significantly increase the life expectancy of patients with PML. Despite the ability of drugs to prevent the progression of the disease, pathological changes in the brain are irreversible and lead to persistent disability of patients, therefore, it is necessary to diagnose PML in the early stages of the disease.

Effects of an aqueous extract of North American ginseng on MOG(35–55)-induced EAE in mice

2012 ◽  
Vol 90 (7) ◽  
pp. 933-939 ◽  
Author(s):  
Laura E. Bowie ◽  
Wendi A. Roscoe ◽  
Ed M.K. Lui ◽  
Robin Smith ◽  
Stephen J. Karlik
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Aqueous Extract ◽  
Clinical Symptoms ◽  
Clinical Signs ◽  
American Ginseng ◽  
Chronic Inflammatory Disease ◽  
Spinal Cord Tissue ◽  
Tissue Samples ◽  
The Central Nervous System

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, in which the release of reactive oxygen species by infiltrating immune cells contributes to demyelination. American ginseng ( Panax quinquefolius ) is a natural health product with numerous beneficial properties, including anti-inflammatory and anti-oxidant effects. The purpose of this study was to determine whether ginseng could influence the course of the disease experimental autoimmune encephalomyelitis (EAE), an animal model of MS. C57BL/6J mice were immunized with MOG(35–55) peptide to induce EAE. After clinical disease appeared, mice received either oral doses of an aqueous extract of ginseng (150 mg/kg body mass), or the vehicle. Clinical symptoms were recorded, and spinal cord tissue samples were analyzed for pathological signs of disease. The aqueous extract of ginseng significantly decreased (i) clinical signs of EAE, (ii) levels of circulating TNF-α, and (iii) central nervous system immunoreactive iNOS and demyelination scores, without a change in other neuropathological measures. This study shows that an aqueous extract of ginseng may be able to attenuate certain signs of EAE, suggesting that it may be a useful adjuvant therapy for MS.

scholarly journals Relapsed Primary Central Nervous System Lymphoma: Current Advances

2021 ◽  
Vol 11 ◽  
Author(s):  
Kaiyan Tao ◽  
Xuefeng Wang ◽  
Xin Tian
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Immune Escape ◽  
Clinical Symptoms ◽  
Central Nervous System Lymphoma ◽  
Complete Response ◽  
High Dose ◽  
Related Factors ◽  
Hematopoietic Stem ◽  
The Central Nervous System

Primary central nervous system lymphoma is an invasive malignant lymphoma confined to the central nervous system. Although patients undergoing first-line treatment can achieve complete response, most of them still relapse within two years. Relapsed lymphoma is derived from occult lymphoma cells, and B cell receptor pathway activation and immune escape are the key mechanisms for the pathogenesis of PCNSL. Most relapses are in the central nervous system, a small number of relapses are isolated systemic relapses, and clinical symptoms occur early and vary. Current treatments for relapse include high-dose methotrexate rechallenge and other regimens of chemotherapy, whole-brain radiation therapy, hematopoietic stem-cell transplantation, targeted therapy and immunotherapy, which have become promising treatments. The overall prognosis of relapsed PCNSL is very poor, although it is affected by many factors. This article summarizes the mechanisms, related factors, clinical features, follow-up, treatment and prognosis of relapsed primary central nervous system lymphoma.

scholarly journals Intrathecal synthesis of complement components C3c and C4 in the central nervous system infections with signs of the acute serous meningitis syndrome

2002 ◽  
Vol 59 (3) ◽  
pp. 265-270 ◽  
Author(s):  
Zeljka Tatomirovic ◽  
Radojka Bokun ◽  
Dubravko Bokonjic
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Symptoms ◽  
Complement Components ◽  
Intrathecal Synthesis ◽  
Complement Proteins ◽  
The Central Nervous System ◽  
The Comparative Study

Two hundred and ten patients with meningismus and the infections of the central nervous system (CNS) with the clinical symptoms and signs of the acute serous meningitis syndrome, were divided into groups according to etiology (enterovirus meningitis-ENTERO, serous meningitis various etiology-SM and tuberculosis meningitis-TBC). Intrathecal synthesis (ITS) of C3c and C4 complement components and IgG were determined by the method of cerebrospinal indexes (I), to examine their role in differential diagnosis of this syndrome. Correlative study between the CSF/serum ratio (Q) for albumin (Alb) and QC3c and QC4 in patients with no proven ITS of this two complement proteins, and the comparative study of the increased value of C3cI and C4I (and IgGI) between the examined groups of the patients was done. Highly significant correlations were found between QAlb and QC3c (r?=?0.89, p<0.001) and QC4 (r?=?0.85, p<0.001). In 22,4% of the examined patients ITS of C3c and C4 were found. There was no difference in frequency of ITS of the two complement proteins between the examined groups, nor inside any particular group. TBC group had significantly lower (p<0.05) intensity of ITS of C3c and C4 than MNG and ENTERO, and significantly higher intensity of ITS of IgG (p<0.05) than the other tested groups. CSF index was confirmed as a valid method to detect intrathecal C3c and C4 production. Determination of ITS C3c and C4 could not be of great help in differential diagnosis in the acute serous meningitis syndrome. The intensity of ITS of C3c and C4, related to the intensity of ITS of IgG, could be of help in the determination of the duration of the disease.

scholarly journals New Face of Neuroinfection; Autoimun Encephalitis

Arkus ◽  
2021 ◽  
Vol 3 (1) ◽  
pp. 189-190
Author(s):  
Andika Okparasta
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Inflammatory Process ◽  
Clinical Symptoms ◽  
Treatment Options ◽  
Autoimmune Encephalitis ◽  
Neurological Dysfunction ◽  
Central Nervous System Disorders ◽  
The Central Nervous System ◽  
The Brain

Encephalitis is an inflammatory process of the brain that attacks the central nervous system and can cause neurological dysfunction. Encephalitis is mostly caused by viruses, but in some cases the etiology is unknown. Autoimmune encephalitis occurs due to autoantibody interactions characterized by symptoms of central nervous system disorders. Clinical symptoms are quite specific, but there are criteria that must be met to make a diagnosis and additional investigations if needed. Treatment options for autoimmune encephalitis range from agents that suppress the immune system broadly to agents that specifically target antibody-mediated pathogenesis.

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