scholarly journals Neurofibroma of the peroneal nerve

2018 ◽  
Vol 44 (videosuppl1) ◽  
pp. V2
Author(s):  
Clayton Haldeman ◽  
Amgad Hanna

Neurofibromas are benign tumors composed of different cell types from the peripheral nervous system. Neurofibromas infiltrate between nerve fascicles and do not have a discrete capsule. On MRI, they are T1 hypointense or isointense, T2 hyperintense, often with a “target sign,” and contrast enhancing. The video shows gross-total resection of a peroneal nerve neurofibroma presenting as a painful mass in the popliteal fossa. Incisions across a skin crease can be either oblique or zigzag, but never perpendicular to it. It is also key to expose normal nerve proximal and distal to the tumor. The patient had a good functional outcome.The video can be found here: https://youtu.be/G74Zoa1Y2JM.

‘Neuroanatomy and neurophysiology’ covers the anatomy and organization of the central nervous system, including the skull and cervical vertebrae, the meninges, the blood and lymphatic vessels, muscles and nerves of the head and neck, and the structures of the eye, ear, and central nervous system. At a cellular level, the different cell types and the mechanism of transmission across synapses are considered, including excitatory and inhibitory synapses. This is followed by a review of the major control and sensory systems (including movement, information processing, locomotion, reflexes, and the main five senses of sight, hearing, touch, taste, and smell). The integration of these processes into higher functions (such as sleep, consciousness and coma, emotion, memory, and ageing) is discussed, along with the causes and treatments of disorders of diseases such as depression, schizophrenia, epilepsy, addiction, and degenerative diseases.


Author(s):  
Christian J. Hendriksz ◽  
Francois Karstens

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.


2006 ◽  
Vol 110 (2) ◽  
pp. 175-191 ◽  
Author(s):  
Shelley J. Allen ◽  
David Dawbarn

The neurotrophins are growth factors required by discrete neuronal cell types for survival and maintenance, with a broad range of activities in the central and peripheral nervous system in the developing and adult mammal. This review examines their role in diverse disease states, including Alzheimer's disease, depression, pain and asthma. In addition, the role of BDNF (brain-derived neurotrophic factor) in synaptic plasticity and memory formation is discussed. Unlike the other neurotrophins, BDNF is secreted in an activity-dependent manner that allows the highly controlled release required for synaptic regulation. Evidence is discussed which shows that sequestration of NGF (nerve growth factor) is able to reverse symptoms of inflammatory pain and asthma in animal models. Both pain and asthma show an underlying pathophysiology linked to increases in endogenous NGF and subsequent NGF-dependent increase in BDNF. Conversely, in Alzheimer's disease, there is a role for NGF in the treatment of the disease and a recent clinical trial has shown benefit from its exogenous application. In addition, reductions in BDNF, and changes in the processing and usage of NGF, are evident and it is possible that both NGF and BDNF play a part in the aetiology of the disease process. This highly selective choice of functions and disease states related to neurotrophin function, although in no way comprehensive, illustrates the importance of the neurotrophins in the brain, the peripheral nervous system and in non-neuronal tissues. Ways in which the neurotrophins, their receptors or agonists/antagonists may act therapeutically are discussed.


2019 ◽  
Vol 20 (S9) ◽  
Author(s):  
Federico Ansaloni ◽  
Margherita Scarpato ◽  
Elia Di Schiavi ◽  
Stefano Gustincich ◽  
Remo Sanges

Abstract Background Transposable Elements (TE) are mobile sequences that make up large portions of eukaryote genomes. The functions they play within the complex cellular architecture are still not clearly understood, but it is becoming evident that TE have a role in several physiological and pathological processes. In particular, it has been shown that TE transcription is necessary for the correct development of mice embryos and that their expression is able to finely modulate transcription of coding and non-coding genes. Moreover, their activity in the central nervous system (CNS) and other tissues has been correlated with the creation of somatic mosaicisms and with pathologies such as neurodevelopmental and neurodegenerative diseases as well as cancers. Results We analyzed TE expression among different cell types of the Caenorhabditis elegans (C. elegans) early embryo asking if, where and when TE are expressed and whether their expression is correlated with genes playing a role in early embryo development. To answer these questions, we took advantage of a public C. elegans embryonic single-cell RNA-seq (sc-RNAseq) dataset and developed a bioinformatics pipeline able to quantify reads mapping specifically against TE, avoiding counting reads mapping on TE fragments embedded in coding/non-coding transcripts. Our results suggest that i) canonical TE expression analysis tools, which do not discard reads mapping on TE fragments embedded in annotated transcripts, may over-estimate TE expression levels, ii) Long Terminal Repeats (LTR) elements are mostly expressed in undifferentiated cells and might play a role in pluripotency maintenance and activation of the innate immune response, iii) non-LTR are expressed in differentiated cells, in particular in neurons and nervous system-associated tissues, and iv) DNA TE are homogenously expressed throughout the C. elegans early embryo development. Conclusions TE expression appears finely modulated in the C. elegans early embryo and different TE classes are expressed in different cell types and stages, suggesting that TE might play diverse functions during early embryo development.


2015 ◽  
Vol 90 (1) ◽  
pp. 379-391 ◽  
Author(s):  
John E. Carpenter ◽  
Amy C. Clayton ◽  
Kevin C. Halling ◽  
Daniel J. Bonthius ◽  
Erin M. Buckingham ◽  
...  

ABSTRACTVaricella-zoster virus (VZV) is a highly neurotropic virus that can cause infections in both the peripheral nervous system and the central nervous system. Several studies of VZV reactivation in the peripheral nervous system (herpes zoster) have been published, while exceedingly few investigations have been carried out in a human brain. Notably, there is no animal model for VZV infection of the central nervous system. In this report, we characterized the cellular environment in the temporal lobe of a human subject who recovered from focal VZV encephalitis. The approach included not only VZV DNA/RNA analyses but also a delineation of infected cell types (neurons, microglia, oligodendrocytes, and astrocytes). The average VZV genome copy number per cell was 5. Several VZV regulatory and structural gene transcripts and products were detected. When colocalization studies were performed to determine which cell types harbored the viral proteins, the majority of infected cells were astrocytes, including aggregates of astrocytes. Evidence of syncytium formation within the aggregates included the continuity of cytoplasm positive for the VZV glycoprotein H (gH) fusion-complex protein within a cellular profile with as many as 80 distinct nuclei. As with other causes of brain injury, these results suggested that astrocytes likely formed a defensive perimeter around foci of VZV infection (astrogliosis). Because of the rarity of brain samples from living humans with VZV encephalitis, we compared our VZV results with those found in a rat encephalitis model following infection with the closely related pseudorabies virus and observed similar perimeters of gliosis.IMPORTANCEInvestigations of VZV-infected human brain from living immunocompetent human subjects are exceedingly rare. Therefore, much of our knowledge of VZV neuropathogenesis is gained from studies of VZV-infected brains obtained at autopsy from immunocompromised patients. These are not optimal samples with which to investigate a response by a human host to VZV infection. In this report, we examined both flash-frozen and paraffin-embedded formalin-fixed brain tissue of an otherwise healthy young male with focal VZV encephalitis, most likely acquired from VZV reactivation in the trigeminal ganglion. Of note, the cellular response to VZV infection mimicked the response to other causes of trauma to the brain, namely, an ingress of astrocytes and astrogliosis around an infectious focus. Many of the astrocytes themselves were infected; astrocytes aggregated in clusters. We postulate that astrogliosis represents a successful defense mechanism by an immunocompetent human host to eliminate VZV reactivation within neurons.


Cephalalgia ◽  
2019 ◽  
Vol 40 (5) ◽  
pp. 517-523
Author(s):  
Angeliki Vgontzas ◽  
William Renthal

Background Genome-wide association studies have implicated dozens of genes with migraine susceptibility, but it remains unclear in which nervous system cell types these genes are expressed. Methods Using single-cell RNA sequencing data from the central and peripheral nervous system, including the trigeminal ganglion, the expression of putative migraine-associated genes was compared across neuronal, glial and neurovascular cell types within these tissues. Results Fifty-four putative migraine-associated genes were expressed in the central nervous system, peripheral nervous system or neurovascular cell types analyzed. Six genes (11.1%) were selectively enriched in central nervous system cell types, three (5.5%) in neurovascular cell types, and two (3.7%) in peripheral nervous system cell types. The remaining genes were expressed in multiple cell types. Conclusions Single-cell RNA sequencing of the brain and peripheral nervous system localizes each migraine-associated gene to its respective nervous system tissue and the cell types in which it is expressed. While the majority of migraine-associated genes are broadly expressed, we identified several cell-type-specific migraine-associated genes in the central nervous system, peripheral nervous system, and neurovasculature. Trial registration: not applicable.


1982 ◽  
Vol 60 (7) ◽  
pp. 1037-1045 ◽  
Author(s):  
William J. Racz ◽  
Laurie J. S. Vandewater

Methylmercury is a widespread and highly toxic environmental pollutant. The source of the substance in the environment is industrial and agricultural use. Chronic methylmercury poisoning is characterized by peripheral and central nervous system damage. The rate of absorption and distribution of this organomercurial into neural tissue determines the rate of development and the severity of the neural lesion. Furthermore, the rate of metabolism and excretion of an organomercurial will greatly influence its neural toxicity. There are differences in the accumulation of methylmercury in different regions of the brain, as well as by the different cell types in these regions. The significance of this variable accumulation of methylmercury is not known. Methylmercury influences a large number of neurocellular functions ranging from inhibition of membrane integrity to alteration in the synthesis and release of transmitter substances.


Oncogene ◽  
2020 ◽  
Vol 39 (32) ◽  
pp. 5421-5429 ◽  
Author(s):  
Dario-Lucas Helbing ◽  
Alexander Schulz ◽  
Helen Morrison

Abstract Schwannomas are tumors of the peripheral nervous system, consisting of different cell types. These include tumorigenic Schwann cells, axons, macrophages, T cells, fibroblasts, blood vessels, and an extracellular matrix. All cell types involved constitute an intricate “tumor microenvironment” and play relevant roles in the development and progression of schwannomas. Although Nf2 tumor suppressor gene-deficient Schwann cells are the primary tumorigenic element and principle focus of current research efforts, evidence is accumulating regarding the contributory roles of other cell types in schwannoma pathology. In this review, we aim to provide an overview of intra- and intercellular mechanisms contributing to schwannoma formation. “Genes load the gun, environment pulls the trigger.” -George A. Bray


Science ◽  
2019 ◽  
Vol 365 (6456) ◽  
pp. eaaw8231 ◽  
Author(s):  
Tracey A. C. S. Suter ◽  
Alexander Jaworski

The central and peripheral nervous system (CNS and PNS, respectively) are composed of distinct neuronal and glial cell types with specialized functional properties. However, a small number of select cells traverse the CNS-PNS boundary and connect these two major subdivisions of the nervous system. This pattern of segregation and selective connectivity is established during embryonic development, when neurons and glia migrate to their destinations and axons project to their targets. Here, we provide an overview of the cellular and molecular mechanisms that control cell migration and axon guidance at the vertebrate CNS-PNS border. We highlight recent advances on how cell bodies and axons are instructed to either cross or respect this boundary, and present open questions concerning the development and plasticity of the CNS-PNS interface.


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