scholarly journals Nodes, paranodes and neuropathies

2017 ◽  
Vol 89 (1) ◽  
pp. 61-71 ◽  
Author(s):  
Janev Fehmi ◽  
Steven S Scherer ◽  
Hugh J Willison ◽  
Simon Rinaldi
Keyword(s):  
Peripheral Nerves ◽  
Clinical Importance ◽  
Specific Cell ◽  
Peripheral Neuropathies ◽  
Autoimmune Neuropathy ◽  
Basic Understanding ◽  
Clinical Variants ◽  
Inflammatory Neuropathies ◽  
The Common ◽  
Treatment Responsiveness

This review summarises recent evidence supporting the involvement of the specialised nodal and perinodal domains (the paranode and juxtaparanode) of myelinated axons in the pathology of acquired, inflammatory, peripheral neuropathies.The identification of new target antigens in the inflammatory neuropathies heralds a revolution in diagnosis, and has already begun to inform increasingly targeted and individualised therapies. Rapid progress in our basic understanding of the highly specialised nodal regions of peripheral nerves serves to strengthen the links between their unique microstructural identities, functions and pathologies. In this context, the detection of autoantibodies directed against nodal and perinodal targets is likely to be of increasing clinical importance. Antiganglioside antibodies have long been used in clinical practice as diagnostic serum biomarkers, and associate with specific clinical variants but not to the common forms of either acute or chronic demyelinating autoimmune neuropathy. It is now apparent that antibodies directed against several region-specific cell adhesion molecules, including neurofascin, contactin and contactin-associated protein, can be linked to phenotypically distinct peripheral neuropathies. Importantly, the immunological characteristics of these antibodies facilitate the prediction of treatment responsiveness.

scholarly journals Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies

Neurology ◽  
2017 ◽  
Vol 90 (1) ◽  
pp. e31-e38 ◽  
Author(s):  
Elisabeth Burnor ◽  
Li Yang ◽  
Hao Zhou ◽  
Kristina R. Patterson ◽  
Colin Quinn ◽  
...  
Keyword(s):  
Chronic Inflammatory Demyelinating Polyneuropathy ◽  
Acute Onset ◽  
Severe Form ◽  
Peripheral Neuropathies ◽  
Clinical Correlates ◽  
Autoimmune Neuropathy ◽  
Isoform Specificity ◽  
The Common ◽  
Prognostic Implications ◽  
Ig G

ObjectiveTo measure the frequency, persistence, isoform specificity, and clinical correlates of neurofascin antibodies in patients with peripheral neuropathies.MethodsWe studied cohorts of patients with Guillain-Barre syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP) (n = 59), genetic neuropathy (n = 111), and idiopathic neuropathy (n = 43) for immunoglobulin (Ig) G and IgM responses to 3 neurofascin (NF) isoforms (NF140, NF155, and NF186) using cell-based assays.ResultsNeurofascin antibodies were more common in patients with GBS/CIDP (14%, 8 of 59) compared to genetic neuropathy controls (3%, 3 of 111, p = 0.01). Seven percent (3 of 43) of patients with idiopathic neuropathy also had neurofascin antibodies. NF155 IgG4 antibodies were associated with CIDP refractory to IV immunoglobulin but responsive to rituximab, and some of these patients had an acute onset resembling GBS. NF186 IgG and IgM to either isoform were less specific. A severe form of CIDP, approaching a locked-in state, was seen in a patient with antibodies recognizing all 3 neurofascin isoforms.ConclusionsNeurofascin antibodies were 4 times more frequent in autoimmune neuropathy samples compared to genetic neuropathy controls. Persistent IgG4 responses to NF155 correlated with severe CIDP resistant to usual treatments but responsive to rituximab. IgG4 antibodies against the common domains shared by glial and axonal isoforms may portend a particularly severe but treatable neuropathy. The prognostic implications of neurofascin antibodies in a subset of idiopathic neuropathy patients and transient IgM responses in GBS require further investigation.

Markers of steroid resistance of the primary nephrotic syndrome in children

2021 ◽  
Vol 19 (1) ◽  
pp. 15-21
Author(s):  
S. L. Morozov ◽  
◽  
V. V. Dlin ◽  
Keyword(s):  
Nephrotic Syndrome ◽  
Steroid Therapy ◽  
Molecular Genetic ◽  
Clinical Importance ◽  
Recent Decade ◽  
Immunosuppressive Drugs ◽  
Steroid Resistance ◽  
Primary Nephrotic Syndrome ◽  
Non Invasive ◽  
The Common

The global task of the recent decade is to search for clinical and laboratory markers accurately showing a patient’s reaction to steroid therapy and other immunosuppressive drugs. It is important the applied methods and tests to be non-invasive and simple to use. The article considers various biomarkers used to verify the type of nephrotic syndrome depending on the sensitivity to steroid therapy. Besides the common markers, which are used in clinical practice or have shown a significant result, the work highlights the molecular- genetic markers of resistance to steroid therapy, which are of special clinical importance today. Also, the article presents authors’ own results in diagnosing the steroid resistance of the primary nephrotic syndrome.

ULTRASONIC STUDY IN DIAGNOSTICS OF PERIPHERAL NEUROPATHIES (CASE FROM PRACTICE)

2021 ◽  
pp. 144-146
Author(s):  
Hamanovich A.I. ◽  
◽  
Baida A.G. ◽  
Koyalo L.G. ◽  
Levantsevich V.V. ◽  
...  
Keyword(s):  
Nervous System ◽  
Gold Standard ◽  
Peripheral Nerves ◽  
Peroneal Nerve ◽  
Clinical Case ◽  
Clinical Symptoms ◽  
Nerve Trunk ◽  
Peripheral Neuropathies ◽  
Ultrasound Scanning ◽  
Electrophysiological Methods

Electrophysiological methods, such as electromyography and neuromyography, are traditionally recognized as the "gold standard" for detecting pathology of the peripheral nervous system. It should be noted, however, that the information obtained during the above examinations does not give an idea of the state of the surrounding tissues, does not indicate the nature and cause of damage to the nerve trunk, and does not always accurately reflect the localization of changes. At the same time, it is this information that helps to determine the tactics of conservative or surgical treatment of the patient. Ultrasound scanning is quite successfully used in the diagnosis of damage and diseases of the peripheral nerves. The article presents a clinical case of a diagnostic search for a causative disease in a patient with clinical symptoms of neuropathy of the peroneal nerve.

scholarly journals New therapeutic patents used for the treatment of leprosy: a review

2018 ◽  
Vol 146 (14) ◽  
pp. 1746-1749 ◽  
Author(s):  
Nayara Gomes Lima Santos ◽  
Karen Perez Pereira Ramos ◽  
Saravanan Shanmugam ◽  
Fernanda Oliveira de Carvalho ◽  
Luciana Garcez Barreto Teixeira ◽  
...  
Keyword(s):  
Peripheral Nerves ◽  
Peripheral Neuropathies ◽  
Loss Of Function ◽  
Cutaneous Lesions ◽  
Patent Classification ◽  
Human Needs ◽  
International Patent ◽  
Different Types ◽  
New Treatment

AbstractLeprosy is a granulomatous disease, infectious and transmissible, which affects the skin and peripheral nerves, havingMycobacterium lepraeas causative agent. The manifestation of this disease causes cutaneous lesions, peripheral neuropathies and, in more extreme cases, may generate deformities and disabilities in affected individuals. Patents were identified using the descriptor ‘leprosy’ and code A61K of the international patent classification, which indicates only products that meet human needs. The analysis was made using theWIPO,ESPACENETandUSPTOdatabases, until the month of September 2016. Through this review, we found a variety of in vitro, pre-clinical and clinical studies relating to the treatment of leprosy with different types of compounds and forms of administration. New treatment proposals should include pain reduction capabilities, prevention or limitation of the appearance of cutaneous lesions, as well as prevention of the progression of the disease to more severe stages that may lead to loss of function or potentiate the individual's immune response to theM. lepraebacillus in order to prevent bacterial spread. We concluded that any patents developed with natural products were not found in the treatment of leprosy. All the deposited products were synthetic origin, mostly tested in humans and of varied forms of administration.

Unmyelinated nociceptors of rat paraspinal tissues

1995 ◽  
Vol 73 (5) ◽  
pp. 1752-1762 ◽  
Author(s):  
G. M. Bove ◽  
A. R. Light
Keyword(s):  
Lumbar Spine ◽  
Intact Animal ◽  
Receptive Fields ◽  
Clinical Importance ◽  
Mechanical Stimuli ◽  
Peripheral Neuropathies ◽  
Deep Tissue ◽  
Surrounding Connective Tissue ◽  
Thermal Stimuli ◽  
Stimulation Of

1. We made recordings from rat dorsal root filaments to study unmyelinated afferent units (conduction velocity < or = 1.5 m/s) associated with deep paraspinal tissues of the dorsal sacrum and proximal tail. Data from 57 unmyelinated units were analyzed in 47 experiments. Receptive fields were identified in intact animals and then surgically isolated using microdissection. Units were characterized using mechanical, noxious chemical, and thermal stimuli. 2. These recordings revealed innervation of the nerve sheaths and surrounding connective tissue, muscles, tendons, and tissue apposed to the undersurface of the skin. No units were found with receptive fields directly on joint capsular tissue. The receptive fields of the units were often multiple and located in more than one tissue; 31 of 57 units showed convergence from different tissues. 3. The units with receptive fields on neurovascular bundles shared sensitivities with other deep tissue units described in this and other reports. These units may have clinical importance in pain due to peripheral neuropathies. 4. The units initially responded to strong mechanical stimulation of the intact animal and often to noxious stretch of the tail. Once surgically isolated, an individual unit's threshold to mechanical stimuli appeared lower. 5. Capsaicin (0.001%-0.1%) elicited responses in 81% (17 of 21) of the units tested. Bradykinin (20 micrograms/ml) elicited responses in 45% (10 of 22) of the units tested. Noxious cold (4-10 degrees C) and hot (55 degrees C) stimulation elicited discharges from 33% (5 of 15) and 25% (5 of 20) of the units tested, respectively. 6. The unmyelinated units had similar mechanical, chemical, and thermal sensitivities. These similarities and the observed convergence only allowed separation of units by the tissue in which the ending was found, and did not allow further classification. 7. The prevalence of background discharge suggested that many units were sensitized during the experiments. 8. The sensitivities of these paraspinal units were similar to those reported for other tissues. Because of the anatomic similarity of the paraspinal tissues of the proximal tail and the lumbar spine, the conclusions of the present study can be related to the lumbar spine. These afferent units are thought to participate in nociception from the deep paraspinal tissues.

scholarly journals In Vivo MR Microneurography of the Tibial and Common Peroneal Nerves

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Paolo F. Felisaz ◽  
Eric Y. Chang ◽  
Irene Carne ◽  
Stefano Montagna ◽  
Francesco Balducci ◽  
...  
Keyword(s):  
Healthy Volunteers ◽  
Clinical Setting ◽  
Peripheral Nerves ◽  
Medial Malleolus ◽  
Fibular Head ◽  
Mr Neurography ◽  
Noninvasive Technique ◽  
3T Mri ◽  
The Common

MR microneurography is a noninvasive technique that provides visualization of the microanatomy of peripheral nerves, otherwise available only with histopathology. The objective of this study was to present a protocol to visualize the microstructure of peripheral nerves in vivo, using a 3T MRI scanner with a clinical set of coils and sequences. The tibial and the common peroneal nerves of healthy volunteers were imaged above the medial malleolus and at the level of the fibular head, respectively. The acquired images provided details about the internal structure of peripheral nerves, with visualization of the fascicles, the interfascicular fat, the epineurium, and the perineurium. MR microneurography can be performed in a clinical setting with acceptable imaging times and can be a potentially powerful tool that complements standard MR neurography.

scholarly journals Asymptomatic nodule on face: Dermoscopic and histopathological clue for diagnosis

2020 ◽  
Vol 17 (1) ◽  
pp. 63-65
Author(s):  
Anisha Joshi ◽  
Deeptara Pathak Thapa
Keyword(s):  
Head And Neck ◽  
Peripheral Nerves ◽  
Neck Region ◽  
Surgical Excision ◽  
Benign Tumors ◽  
Complete Excision ◽  
Head And Neck Region ◽  
The Common ◽  
Slow Growing ◽  
Rare Diagnosis

Schwannomas/ neurilemmomas are benign tumors of nerve sheath arising from Schwann cells that form myelin sheath around peripheral nerves. They are usually solitary, slow growing and encapsulated lesions. Head and neck are the common sites. We report a case of a 38 years old Nepalese female who had presented with a solitary asymptomatic, slow growing nodule on the left side of the chin for the last three years. Dermoscopy of the lesion revealed arborizing vessels with brownish pigmentation overlying a whitish to pinkish background. Complete excision of the lesion was performed. Histopathological evaluation of the lesion revealed schwannoma. Though schwannomas are a rare diagnosis, they should be considered as a differential diagnosis of any unilateral, asymptomatic, slow growing nodule in the head and neck region. Dermoscopy is a useful tool which helps to differentiate schwannoma from other lesions. Histopathology is the gold standard for diagnosis and the treatment of choice is surgical excision.  

Analysis of MLL Amplification and 5q Deletions in AML/MDS Cell Lines Identifies Novel Targets.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1424-1424
Author(s):  
Bjoern Schneider ◽  
Stefan Nagel ◽  
Maren Kaufmann ◽  
Hilmar Quentmeier ◽  
Yoshinobu Matsuo ◽  
...  
Keyword(s):  
Cell Lines ◽  
Transcriptional Activation ◽  
Myeloid Leukemia ◽  
Target Genes ◽  
Histone Acetyltransferase ◽  
Cell Types ◽  
Signalling Pathways ◽  
Specific Cell ◽  
Genomic Amplification ◽  
The Common

Abstract Genomic amplifications of the 11q23 region occur in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) where MLL and a few neighboring genes, notably DDX6, are deemed salient targets. However, the extent to which amp(lified)-MLL and translocated MLL share effector targets remains to be established. Even less is known about the target(s) of deletions affecting the long arm of chromosome 5 (5q-) which reportedly partner amp-MLL. We analyzed three AML/MDS cell lines by cytogenetics (conventional and FISH) in parallel with real time q(uantitative)-PCR at both 11q23 and 5q2 to measure copy number and expression of salient target genes together with putative downstream targets. The cell lines comprised: MOLM-17 (transforming-MDS), SAML-2 (therapy-related AML), and UOC-M1 (AML-M1). All three cell lines exhibited approximately four-fold genomic amplification of 11q23 including MLL and DDX6, while the amplicon extended telomerically to include FLI1 (11q24) and HNT (11q25) in MOLM-17 and UOC-M1 only. Expression, quantified relative to AML/MDS cell lines without MLL rearrangement, revealed that of the genomically amplified genes only MLL was generally overexpressed, namely by 9.5x (MOLM-17), 5.1x (UOC-M1), and 4.6x (SAML-2). In addition to the highest MLL expression, in MOLM-17 FLI1 (3.8x) and DDX6 (2.8x) were significantly upregulated. Expression was also quantified among reputed MLL target genes, and showed that in the three cell lines MEIS1 was upregulated in MOLM-17 only (by 6x), and CDKN2C in all cell lines (by about 2x), while HOXA9 and CDKN1B showed near-normal levels of expression. All three cell lines carried 5q- with a common deleted region at 5q31 extending from 134.2–137.5 Mbp. Of a panel of genes recently identified as 5q- deletion targets (centromere-TIGA1, CAMLG, C5orf15, C5orf14, BRD8, HARS, KIAA0141, CSNK1A1, RBM22-telomere), only C5orf15 (function unknown) and BRD8 (a component of the nua4 histone acetyltransferase complex involved in transcriptional activation) were generally downregulated - to about 0.25x, and about 0.4x normalized expression levels, respectively. Both genes lie within the common deleted region. In summary, we have characterized amp-MLL and 5q- in MOLM-17, the first MDS cell line to be described with these rearrangements, together with two AML cell lines with similar cytogenetic profiles. Our data suggest that MLL is the only clear object of 11q23 amplification hitherto identified and CDKN2C its sole unequivocal target in AML/MDS cell lines. It is possible that MEIS1 is also targeted for activation in specific cell types or disease phases in MDS. These findings also highlight C5orf15 and/or BRD8 as possible leukemogenic accomplices targeted for downregulation in accompanying 5q-. These findings may point to differences in signalling pathways targeted by amp-MLL in AML and MDS.

scholarly journals Etiologies of abdominal pain emergencies in pediatrics

2021 ◽  
Author(s):  
Hala Atta Youssef ◽  
Aishah Mohammad Alkhaldi ◽  
Manar Mohammed Alshahrani ◽  
Abdullah Tariq Almalki ◽  
Amjad Ali Alahmari ◽  
...  
Keyword(s):  
Emergency Department ◽  
Abdominal Pain ◽  
Pediatric Patients ◽  
Surgical Intervention ◽  
Acute Abdominal Pain ◽  
Clinical Importance ◽  
Healthcare Settings ◽  
Common Causes ◽  
The Common ◽  
Attending Physicians

Reports showed that children usually complained of acute abdominal pain, which indicated the presence of severe underlying conditions and can have significant clinical importance. Serious challenges have been reported in healthcare settings where an urgent evaluation of the cases was necessary to adequately manage the patient before developing serious complications that might even end up with death. Some of these conditions included intussusception, appendicitis, volvulus and adhesions. Although estimates indicated that only around 1% of pediatric patients with acute abdominal pain usually required surgical intervention, concerns regarding the overlooking and misdiagnosis of significant conditions that might have severe prognostic outcomes were aroused among the different emergency departments. This study reviewed the common causes of acute abdominal pain among children admitted to the emergency department. Our results indicated that various etiologies can develop acute abdominal pain and therefore, establishing an adequate diagnosis by differentiating between the different etiologies should be done by the attending physicians to enhance the outcomes and adequately manage the admitted patients. Gastrointestinal causes of acute abdominal pain were the commonest to cause admissions to the emergency department. However, care should also be provided to the less common conditions, which might include genitourinary and pulmonary disorders and therefore, a thorough examination of children should be provided not to conduct a misdiagnosis of the underlying condition.

scholarly journals A case of schwannoma of the common peroneal nerve in the knee

2017 ◽  
Vol 9 (1) ◽  
Author(s):  
Tayyar Taylan Öz ◽  
Birol Aktaş ◽  
Korhan Özkan ◽  
Burak Özturan ◽  
Bulent Kilic ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Knee Pain ◽  
Peripheral Nerves ◽  
Peroneal Nerve ◽  
Surgical Intervention ◽  
Common Peroneal Nerve ◽  
Neurogenic Tumors ◽  
Post Operative Period ◽  
The Common ◽  
Neural Sheath

Schwannomas are benign neurogenic tumors of peripheral nerves that originate from neural sheath. The aim of this case report is to bring to mind the schwannoma in the patient with knee pain. A 39-year-old woman presented with a complaint of knee pain of three months history. After surgical intervention, the patient’s complaints completely disappeared in the post-operative period. This should come to mind in the differential diagnosis of knee pain.

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