38,594 results on '"neuropathy"'
Search Results
2. Voxx Human Performance Technology Socks for Chemotherapy-Induced Peripheral Neuropathy
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VoxxLife and Arash Asher, MD, Director, Cancer Rehabilitation & Survivorship
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- 2024
3. Disease applications of spinal cord stimulation: Chronic nonmalignant pain.
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Sammartino, Francesco, MacDonell, Jacquelyn, North, Richard, Krishna, Vibhor, and Poree, Lawrence
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Approved indications ,Chronic pain ,Neuromodulation ,Neuropathy ,Spinal Cord Stimulation ,Humans ,Spinal Cord Stimulation ,Chronic Pain ,Neuralgia ,Pain Management - Abstract
Neuropathic pain is a chronic condition representing a significant burden for society. It is estimated 1 out of 10 people over the age of 30 that in the US have been diagnosed with neuropathic pain. Most of the available treatments for neuropathic pain have moderate efficacy over time which limit their use; therefore, other therapeutic approaches are needed for patients. Spinal cord stimulation is an established and cost-effective modality for treating severe chronic pain. In this article we will review the current approved indications for the use of spinal cord stimulation in the US and the novel therapeutic options which are now available using this therapy.
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- 2024
4. A Systematic Guideline by the ASPN Workgroup on the Evidence, Education, and Treatment Algorithm for Painful Diabetic Neuropathy: SWEET.
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Abdullah, Newaj, Tieppo Francio, Vinicius, Falowski, Steven, Ibrahim, Yussr, Malinowski, Mark, Budwany, Ryan, Strand, Natalie, Sochacki, Kamil, Shah, Anuj, Dunn, Tyler, Nasseri, Morad, Lee, David, Kapural, Leonardo, Bedder, Marshall, Petersen, Erika, Amirdelfan, Kasra, Schatman, Michael, Grider, Jay, Sayed, Dawood, Deer, Timothy, Hagedorn, Jonathan, Sayed, Asim, DSouza, Ryan, Lam, Christopher, Khatri, Nasir, Hussaini, Zohra, and Pritzlaff, Scott
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chronic pain ,diabetes ,diabetic neuropathy ,neuropathy ,painful diabetic neuropathy ,spinal cord stimulation - Abstract
INTRODUCTION: Painful diabetic neuropathy (PDN) is a leading cause of pain and disability globally with a lack of consensus on the appropriate treatment of those suffering from this condition. Recent advancements in both pharmacotherapy and interventional approaches have broadened the treatment options for PDN. There exists a need for a comprehensive guideline for the safe and effective treatment of patients suffering from PDN. OBJECTIVE: The SWEET Guideline was developed to provide clinicians with the most comprehensive guideline for the safe and appropriate treatment of patients suffering from PDN. METHODS: The American Society of Pain and Neuroscience (ASPN) identified an educational need for a comprehensive clinical guideline to provide evidence-based recommendations for PDN. A multidisciplinary group of international experts developed the SWEET guideline. The world literature in English was searched using Medline, EMBASE, Cochrane CENTRAL, BioMed Central, Web of Science, Google Scholar, PubMed, Current Contents Connect, Meeting Abstracts, and Scopus to identify and compile the evidence for diabetic neuropathy pain treatments (per section as listed in the manuscript) for the treatment of pain. Manuscripts from 2000-present were included in the search process. RESULTS: After a comprehensive review and analysis of the available evidence, the ASPN SWEET guideline was able to rate the literature and provide therapy grades for most available treatments for PDN utilizing the United States Preventive Services Task Force criteria. CONCLUSION: The ASPN SWEET Guideline represents the most comprehensive review of the available treatments for PDN and their appropriate and safe utilization.
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- 2024
5. The Effect of Tennis Ball on Balance and Quality of Life in Cancer Patients With Neuropathy.
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Ülkü Saygılı, Assist. Prof
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- 2024
6. Well-being in Cancer Patients With Neuropathy During COVID-19 Who Participated in Prior Clinical Trials
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National Cancer Institute (NCI)
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- 2024
7. Neurologic Stem Cell Treatment Study (NEST)
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- 2024
8. Somatosensation Device Trial
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Arun Jayaraman, PT, PhD, Principle Investigator
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- 2024
9. IVIG for Drug and Device Refractory Gastrointestinal Auto-Immune Neuropathy (GAIN)
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Thomas Abell, Professor
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- 2024
10. rTMS in Improving Neuropathy in Patients With Stage I-IV Cancer Who Have Received Oxaliplatin Chemotherapy
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National Cancer Institute (NCI)
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- 2024
11. Transcutaneous Electrical Nerve Stimulation (TENS) for Chemotherapy Induced Peripheral Neuropathy (CIPN)
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NeuroMetrix, Inc. and Bijan Najafi, PhD, Professor of Surgery
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- 2024
12. Hand-Foot Exercises on Peripheral Neuropathy
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- 2024
13. Residual diabetic foot osteomyelitis after surgery leads to poor clinical outcomes: A systematic review and meta‐analysis.
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Reyes, Mario C., Suludere, Mehmet A., Tarricone, Arthur N., Sajjad, Tehreem, Coye, Tyler L., Sideman, Matthew J., and Lavery, Lawrence A.
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FOOT amputation , *DIABETIC foot , *SURGICAL excision , *OSTEOMYELITIS , *CONFIDENCE intervals , *WOUND healing - Abstract
The aim of this meta‐analysis is to compare the clinical outcomes in patients with and without residual osteomyelitis (ROM) after surgical bone resection for diabetic foot osteomyelitis (DFO). We completed a systematic literature search using PubMed, Scopus, and Embase using keywords DFO, Residual OM (ROM), and positive bone margins. The study outcomes included wound healing, antibiotic duration, amputation, and re‐infection. Five hundred and thirty patients were included in the analysis; 319 had no residual osteomyelitis (NROM), and 211 had ROM. There was not a significant difference in the proportion of wounds that healed 0.6 (p = 0.1, 95% confidence intervals [95% CI] 0.3–1.3). The risk of infection was 2.0 times higher (OR = 2.0, p = 0.02, 95% CI 1.1–3.4), and the risk of amputation was 4.3 times higher (OR = 4.3, p = 0.0001, 95% CI 2.4–7.6) in patients with ROM. Patients with ROM received antibiotics significantly longer. The mean difference was 16.3 days (p = 0.02, 95% CI 11.1–21.1). [ABSTRACT FROM AUTHOR]
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- 2024
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14. Role of proprioception in corrective visually-guided movements: larger movement errors in both arms of a deafferented individual compared to control participants.
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Jayasinghe, Shanie A.L., Sainburg, Robert L., and Sarlegna, Fabrice R.
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PROPRIOCEPTION , *VISION disorders , *CONTROL groups , *NEUROPATHY , *FEMALES - Abstract
Proprioception plays an important role in both feedforward and feedback processes underlying movement control. This has been shown with individuals who suffered a profound proprioceptive loss and use vision to partially compensate for the sensory loss. The purpose of this study was to specifically examine the role of proprioception in feedback motor responses to visual perturbations by examining voluntary arm movements in an individual with a rare case of selective peripheral deafferentation (GL). We compared her left and right hand movements with those of age-matched female control participants (70.0 years ± 0.2 SEM) during a reaching task. Participants were asked to move their unseen hand, represented by a cursor on the screen, quickly and accurately to reach a visual target. A visual perturbation could be pseudorandomly applied, at movement onset, to either the target position (target jump) or the cursor position (cursor jump). Results showed that despite the continuous visual feedback that was provided, GL produced larger errors in final position accuracy compared to control participants, with her left nondominant hand being more erroneous after a cursor jump. We also found that the proprioceptively-deafferented individual produced less spatially efficient movements than the control group. Overall, these results provide evidence of a heavier reliance on proprioceptive feedback for movements of the nondominant hand relative to the dominant hand, supporting the view of a lateralization of the feedback processes underlying motor control. [ABSTRACT FROM AUTHOR]
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- 2024
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15. Nigellasativa L. and its bioactive and nutraceutical components in the management of diabetic peripheral neuropathy.
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Khodaie, Seyed-Ali, Razavi, Roghaye, Nikkhah, Haniyeh, Namiranian, Nasim, and Kamalinejad, Mohammad
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BLACK cumin , *DIABETIC neuropathies , *DIABETES complications , *BIOACTIVE compounds , *OXIDATIVE stress - Abstract
Diabetes-induced hyperglycemia leads to excessive production of oxygen free radicals, inflammatory cytokines, and oxidative stress, which initiates diabetic peripheral neuropathy (DPN). Currently, this condition affects 20% of adults with diabetes. Despite significant advances in the treatment of diabetes, the incidence of its complications, including DPN, is still high. Thus, there is a growing research interest in developing more effective and treatment approaches with less side effects for diabetes and its complications. Nigellasativa L. (NS) has received much research attention as an antioxidant, anti-yperglycemic factor, and anti-inflammatory agent. This natural compound demonstrates its antidiabetic neuropathy effect through various pathways, including the reduction of lipid peroxidation, the enhancement of catalase and superoxide dismutase enzyme activity, and the decrease in inflammatory cytokine levels. The present review focuses on the bioactive and nutraceutical components of black cumin (Nigella sativa L.) and their effects on DPN. In addition, we have also summarized the findings obtained from several experimental and clinical studies regarding the antidiabetic neuropathy effect of NS in animal models and human subjects. [ABSTRACT FROM AUTHOR]
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- 2024
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16. Pilot trial testing the effects of exercise on chemotherapy-induced peripheral neurotoxicity (CIPN) and the interoceptive brain system.
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Kleckner, Ian R., Manuweera, Thushini, Lin, Po-Ju, Chung, Kaitlin H., Kleckner, Amber S., Gewandter, Jennifer S., Culakova, Eva, Tivarus, Madalina E., Dunne, Richard F., Loh, Kah Poh, Mohile, Nimish A., Kesler, Shelli R., and Mustian, Karen M.
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Purpose: Chemotherapy-induced peripheral neurotoxicity (CIPN) is a prevalent, dose-limiting, tough-to-treat toxicity involving numbness, tingling, and pain in the extremities with enigmatic pathophysiology. This randomized controlled pilot study explored the feasibility and preliminary efficacy of exercise during chemotherapy on CIPN and the role of the interoceptive brain system, which processes bodily sensations. Methods: Nineteen patients (65 ± 11 years old, 52% women; cancer type: breast, gastrointestinal, multiple myeloma) starting neurotoxic chemotherapy were randomized to 12 weeks of exercise (home-based, individually tailored, moderate intensity, progressive walking, and resistance training) or active control (nutrition education). At pre-, mid-, and post-intervention, we assessed CIPN symptoms (primary clinical outcome: CIPN-20), CIPN signs (tactile sensitivity using monofilaments), and physical function (leg strength). At pre- and post-intervention, we used task-free (“resting”) fMRI to assess functional connectivity in the interoceptive brain system, involving the salience and default mode networks. Results: The study was feasible (74–89% complete data across measures) and acceptable (95% retention). We observed moderate/large beneficial effects of exercise on CIPN symptoms (CIPN-20, 0–100 scale: − 7.9 ± 5.7, effect size [ES] = − 0.9 at mid-intervention; − 4.8 ± 7.3, ES = − 0.5 at post-intervention), CIPN signs (ES = − 1.0 and − 0.1), and physical function (ES = 0.4 and 0.3). Patients with worse CIPN after neurotoxic chemotherapy had lower functional connectivity within the default mode network (R2 = 40–60%) and higher functional connectivity within the salience network (R2 = 20–40%). Exercise tended to increase hypoconnectivity and decrease hyperconnectivity seen in CIPN (R2 = 12%). Conclusion: Exercise during neurotoxic chemotherapy is feasible and may attenuate CIPN symptoms and signs, perhaps via changes in interoceptive brain circuitry. Future work should test for replication with larger samples. Trial registration: Registered Jan 2017 on ClinicalTrials.gov as NCT03021174. [ABSTRACT FROM AUTHOR]
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- 2024
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17. Oxaliplatin-induced peripheral neuropathy with hepatic arterial versus intravenous infusion in metastatic colorectal cancer.
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Valéry, Marine, Tanguy, Marie-Laure, Gelli, Maximiliano, Smolenschi, Cristina, Hollebecque, Antoine, Boilève, Alice, de Sevilla, Elena Fernandez, Tselikas, Lambros, Bonnet, Baptiste, Goéré, Diane, Taïeb, Julien, Boige, Valérie, Ducreux, Michel, and Malka, David
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Background: Oxaliplatin, a major drug in metastatic colorectal cancer (mCRC), is responsible for cumulative, dose-limiting peripheral neuropathy (PN). Whether the hepatic arterial infusion (HAI) route can limit oxaliplatin-induced PN in comparison with the intravenous (IV) route has not been specifically explored so far. Methods: We compared the frequency and severity of PN in oxaliplatin-naive patients with mCRC included in trials that evaluated treatment with oxaliplatin administered either by HAI (ACCORD 04, CHOICE, OSCAR, and PACHA-01 trials) or by IV route (FFCD 2000–05 trial). We retrieved anonymized, prospectively collected data from trial databases for the ACCORD 04, CHOICE, and FFCD 2000–05 trials and through a review of Gustave Roussy patients’ electronic medical records for PACHA-01 and OSCAR trials. The primary endpoint was the incidence of clinically significant PN (grades 2 to 4) according to the cumulative dose of oxaliplatin received. Secondary endpoints were time to onset of neuropathy as a function of the cumulative dose of oxaliplatin, discontinuation of oxaliplatin for neurotoxicity, and safety. Results: A total of 363 patients were included (IV, 300; HAI, 63). In total, 180 patients in the IV group (60%) and 30 patients in the HAI group (48%) developed clinically significant PN, with no significant difference between the two groups (p = 0.23). No difference was shown in the time to onset of PN either (p = 0.23). Conclusion: The administration of oxaliplatin HAI rather than IV in the treatment of mCRC does not reduce the incidence, precocity, and severity of PN. [ABSTRACT FROM AUTHOR]
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- 2024
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18. Brain-derived neurotrophic factor (BDNF) and other neurotrophic factors in type 2 diabetes mellitus and their association with neuropathy.
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Gaur, Archana, Varatharajan, Sakthivadivel, Balan, Yuvaraj, Taranikanti, Madhuri, John, Nitin Ashok, Umesh, Madhusudhan, Ganji, Vidya, and Medala, Kalpana
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Background: Diabetes mellitus (DM) is associated with increased risk of morbidity and premature mortality due to its various complications. In an Indian study, the prevalence of diabetic peripheral neuropathy (DPN) in type 2 diabetic subjects was shown to be 29.2%. There is increasing evidence that a deficiency of nerve growth factor (NGF) in diabetes, as well as the calcitonin gene–related peptide (CGRP), may also contribute to the development of DPN. The aim of the current study was to evaluate nerve growth factor levels with neuropathy in type 2 DM. Materials and Methods: Forty healthy controls and 40 patients with type 2 DM were recruited; they were asked to report to Dept. of Physiology for initial history taking, general examination and neuropathy examination. A total of 5 mL of blood was collected for neurotrophic factor estimation as well as glycemic profile estimation. Results: The brain-derived neurotrophic factor (BDNF) values were significantly lower in the DM group whereas the insulin levels were also quite high in DM. The hot thresholds for both the upper limb and lower limb were greater in the DM group suggesting the impending neuropathy. Similarly, the Michigan scores were also greater in the DM group. The neuropathy parameters especially the Michigan A and B and the hot thresholds were positively correlated with duration of DM and glucose profile. Conclusion: The neurotrophic factors especially BDNF are drastically reduced in DM patients and are negatively associated with neuropathy, and hence, BDNF can be utilized as a therapeutic target to treat and prevent neuropathy. [ABSTRACT FROM AUTHOR]
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- 2024
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19. A study of PGP 9.5 immunohistochemical labeling on formalin-fixed paraffin embedded tissues for epidermal nerve fiber density testing.
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Esposito, Joseph A., Vader, Camryn J., Israel, Joel R., and McClain, Steve A.
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FIBER testing , *PARAFFIN wax , *NERVE tissue , *FORMALDEHYDE , *ALKANES - Abstract
There have been several methods established for immunohistochemical labeling of the PGP 9.5 antigen in human tissue for the assessment of epidermal nerve fiber density, none of which uses neutral-buffered formalin as the preferred fixative for paraffin-embedded tissue. The literature maintains that formalin-fixed paraffin embedded tissues are unable to be used for this purpose and that other fixatives must be used due to the cross-linkages caused by formalin fixation. This study was undertaken to develop a standardized method for the use of formalin-fixed paraffin embedded tissues for immunohistochemical labeling and assessment of epidermal nerve fiber density. Formalin-fixed paraffin embedded tissues from the punch biopsies of patients suspected to have small fiber neuropathy were prepared for immunohistochemical labeling using heat-induced epitope retrieval for one hour at 92°C. The tissues were then stained with a polyclonal rabbit anti-human PGP 9.5 primary antibody. The resulting stains were then evaluated by a licensed pathologist who counted the number of epidermal nerve fibers stained and recorded the epidermal length in millimeters. Human foreskin was used as the tissue control in these studies. Satisfactory immunohistochemical labeling of epidermal nerve fibers was achieved from formalin-fixed paraffin embedded tissues through the use of heat-induced epitope retrieval. The authors of this paper have concluded that formalin-fixed paraffin embedded tissues may be used to achieve satisfactory immunohistochemical labeling for the assessment of epidermal nerve fiber density. [ABSTRACT FROM AUTHOR]
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- 2024
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20. Targeting dorsal root ganglia for chemotherapy-induced peripheral neuropathy: from bench to bedside.
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Ege, Eliana, Briggi, Daniel, Vu, Peter, Cheng, Jianguo, Lin, Feng, and Xu, Jijun
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DORSAL root ganglia ,PERIPHERAL neuropathy ,SENSORY neurons ,DRUG toxicity ,CANCER survivors - Abstract
Chemotherapy-induced peripheral neuropathy (CIPN) is a debilitating condition affecting an increasing number of cancer survivors worldwide. However, insights into its pathophysiology and availability of effective therapies remain lacking. Dorsal root ganglia (DRG) have been studied as a key component of chemotherapeutic drug toxicity and a potential therapeutic target for CIPN treatment. This comprehensive review aims to synthesize, summarize, and correlate the results of both preclinical and clinical studies relevant to the pathophysiology and management of CIPN in relation to the DRG. Design: Review. A thorough literature search was conducted using the terms 'dorsal root ganglion' and 'chemotherapy-induced peripheral neuropathy', along with appropriate variations. Searched databases included PubMed, EMBASE, Medline, Cochrane Library, Wiley Library, and Web of Science. Inclusion criteria targeted all English language, peer-reviewed original research from the inception of these databases to the present year. Review articles, book chapters, and other nonoriginal publications were excluded. Of 134 relevant studies identified, the majority were preclinical studies elucidating how various chemotherapeutic agents, especially taxanes, disrupt neurotransmission, inflammatory processes, and apoptotic pathways within sensory neurons of DRG. Not only do these effects correlate with the presentation of CIPN, but their disruption has also been shown to reduce CIPN symptoms in preclinical models. However, clinical studies addressing DRG interventions are very limited in number and scope at this time. These results reveal various pathways within DRG that may be effective targets for CIPN treatment. While limited, clinical studies do offer promise in the utility of DRG neuromodulation in managing painful CIPN. In the future, clinical trials are needed to assess interventions aimed at these neuronal and nonneuronal pathological targets to better treat this complex condition. [ABSTRACT FROM AUTHOR]
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- 2024
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21. ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis.
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Chaverra, Marta, Cheney, Alexandra M., Scheel, Alpha, Miller, Alessa, George, Lynn, Schultz, Anastasia, Henningsen, Katelyn, Kominsky, Douglas, Walk, Heather, Kennedy, William R., Kaufmann, Horacio, Walk, Seth, Copié, Valérie, and Lefcort, Frances
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ENTERIC nervous system , *DYSAUTONOMIA , *INTESTINAL mucosa , *DOPAMINERGIC neurons , *EMBRYOLOGY - Abstract
Familial dysautonomia (FD) is a rare sensory and autonomic neuropathy that results from a mutation in the ELP1 gene. Virtually all patients report gastrointestinal (GI) dysfunction and we have recently shown that FD patients have a dysbiotic gut microbiome and altered metabolome. These findings were recapitulated in an FD mouse model and moreover, the FD mice had reduced intestinal motility, as did patients. To understand the cellular basis for impaired GI function in FD, the enteric nervous system (ENS; both female and male mice) from FD mouse models was analyzed during embryonic development and adulthood. We show here that not only is Elp1 required for the normal formation of the ENS, but it is also required in adulthood for the regulation of both neuronal and non-neuronal cells and for target innervation in both the mucosa and in intestinal smooth muscle. In particular, CGRP innervation was significantly reduced as was the number of dopaminergic neurons. Examination of an FD patient's gastric biopsy also revealed reduced and disoriented axons in the mucosa. Finally, using an FD mouse model in which Elp1 was deleted exclusively from neurons, we found significant changes to the colon epithelium including reduced E-cadherin expression, perturbed mucus layer organization, and infiltration of bacteria into the mucosa. The fact that deletion of Elp1 exclusively in neurons is sufficient to alter the intestinal epithelium and perturb the intestinal epithelial barrier highlights a critical role for neurons in regulating GI epithelium homeostasis. [ABSTRACT FROM AUTHOR]
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- 2024
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22. Lactobacillus plantarum for improving the symptoms of type-2 diabetic neuropathy.
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Yuan Chen, Fei Feng, Tailin Xu, Qian Zhao, Qi Kang, Yalin Lan, Meng Yu, and Chengyan Jiang
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JAK-STAT pathway , *LACTOBACILLUS plantarum , *DIABETIC neuropathies , *TYPE 2 diabetes , *TIGHT junctions , *OCCLUDINS - Abstract
This study investigated the beneficial effects and mechanisms of Lactobacillus plantarum (LP) on neuropathy in type-2 diabetic mice. Twenty db/db mice were randomly assigned to either a control group (group C) or a treated group (group LP). Weekly blood glucose levels were measured using a glucose meter. Neuropathy was assessed through thermal sensation, Von Frey responses and sensory nerve conduction velocity. Tight junction protein expression in colorectal tissues was analysed via immunofluorescence. ELISA measured serum inflammatory factors, while faecal samples at the intervention's end assessed gut microbiota changes. Western blot analysed the JAK-STAT signalling pathway in mouse brain tissue. Group LP showed significantly lower blood glucose levels and improved thermal nociceptive sensitivity in db/db mice compared to group C. Additionally, LP intervention increased the expression of the intestinal tight junction protein occludin and enhanced intestinal flora diversity, including higher levels of probiotics like Akkermansia muciniphila. In group LP, serum levels of the anti-inflammatory factor IL-10 increased significantly, while pro-inflammatory factors TNF-α, IL-6, IL-17A and LPS decreased. Additionally, the JAKSTAT signalling pathway was notably inhibited in the brain tissue of these mice. LP may potentially alleviate neuropathy in type-2 diabetic mice by modulating the immune system, repairing the intestinal mucosal barrier, and balancing the gut microbiome. [ABSTRACT FROM AUTHOR]
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- 2024
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23. Exploring the Feasibility and Acceptability of Telehealth Qi Gong Shared Medical Appointments: A Novel Approach to Expand Access.
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Loy, Michelle H. and Fatato, Tim
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HEALTH services accessibility ,CHINESE medicine ,ACADEMIC medical centers ,COST effectiveness ,BEHAVIOR modification ,MEDICAL care ,PILOT projects ,COST analysis ,CLINICAL trials ,SEX distribution ,RESIDENTIAL patterns ,EVALUATION of medical care ,TERTIARY care ,DESCRIPTIVE statistics ,AGE distribution ,TELEMEDICINE ,SURVEYS ,PRE-tests & post-tests ,RACE ,GROUP medical appointments ,METROPOLITAN areas ,ELECTRONIC health records ,MEDICAL records ,ACQUISITION of data ,HEALTH behavior ,QI gong ,PATIENT satisfaction - Abstract
Background: Research on Qi Gong (QG) supports promising health benefits. Both interest and use of QG in U.S. adults has increased over the past decade. Shared Medical Appointments (SMAs) are a novel, cost-effective, and time efficient health care delivery approach associated with patient and clinician satisfaction. Objectives: A telehealth delivered QG SMA was pilot tested among a diverse demographic population within an integrative medicine practice at an academic medical center to assess feasibility and acceptability. Methods: This was a feasibility/acceptability pilot study conducted at a large New York City academic medical center's Integrative Health and Wellness center from January to July 2023. A QG instructor-acupuncturist and an integrative medicine physician-acupuncturist co-led 3 separate series (5 Element QG, Eight-Section Brocade, and Joint-Mobilizing/Sinew Strengthening exercises) of weekly 30-45-minute sessions of QG SMA on a weekday afternoon via telemedicine. The first session included an overview of QG and Traditional Chinese Medicine (TCM) research while follow-up sessions included a check-in, didactic demonstration followed by QG practice, and a debrief to answer questions. Video links were provided for home practice. Surveys assessing satisfaction were sent pre/post series. Results: 18 sessions of QG SMA were offered over a 6-month period. A total of 40 unique participants from diverse demographics (gender, race/ethnicity, primary residence) attended, for a total of 197 virtual visits. A total of 20 participants enrolled in Series 1 (8 weeks), 23 enrolled in Series 2 (7 weeks), and 16 enrolled in Series 3 (3cweeks). For each session, group attendance ranged from 8-16 with an average of 11 participants. Attendance was high with participants attending an average of 72% of the sessions. Participants attended 88% of the first 8-week series, 54% of the second 7-week series, and 60% of the third series. Participant interest persisted over time with 35% of the 40 participants attending more than 1 series, and 12.5% attending all 3 series. Participants' diagnoses and health symptoms included pain (62.5%), cancer (45%) anxiety/depression (40%), cardiovascular disease (CVD) or metabolic conditions (32.5%), gastrointestinal (GI) symptoms/diagnoses (27.5%), stress (22.5%), osteopenia/osteoporosis (17.5%), and insomnia (17.5%). Pre-series [n = 27] participants endorsed symptoms including sleep disturbances, fatigue, pain, stress, weakness, GI symptoms, psychological symptoms, hot flashes, and brain fog. Post-program survey results [n = 11] suggested QG program addressed common symptoms including fatigue, insomnia, anxiety, stress, pain, weakness, and gastrointestinal symptoms. Participants reported incorporating QG, breathing techniques, and meditation into their daily routine. All participants reported their goals were met and that they would recommend the program to others. Regarding delivery preferences, 73% preferred telehealth, 27% hybrid, and none preferred in-person. Participants appreciated the format, new skills, community, and instructors. Conclusion: While the Virtual QG SMA series provided to diverse demographic population with mixed diagnoses is feasible, acceptable, and shows promising positive impact in this pilot, caution in interpreting the data is advised due to the low response rate of the post-program survey. Robust studies with longer follow-ups are recommended. [ABSTRACT FROM AUTHOR]
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- 2024
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24. Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies.
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Geroldi, Alessandro, La Barbera, Andrea, Mammi, Alessia, Origone, Paola, Gaudio, Andrea, Ponti, Clarissa, Sanguineri, Francesca, Matà, Sabrina, Sperti, Martina, Carboni, Ilaria, Bellone, Emilia, Gotta, Fabio, Gemelli, Chiara, Massucco, Sara, Valeria, Guglielmino, Marinelli, Lucio, Grandis, Marina, Bisogni, Giulia, Sabatelli, Mario, and Piscosquito, Giuseppe
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GENETIC variation , *NEPRILYSIN , *IDIOPATHIC diseases , *NEUROPATHY , *OLDER people - Abstract
Background and Aims Methods Results Interpretation Since 2016, biallelic mutations in the membrane metalloendopeptidase (MME) gene have been associated with late‐onset recessive CMT2 (CMT2T). More recently, heterozygous mutations have also been identified in familial and sporadic patients with late‐onset axonal neuropathy, ranging from subclinical to severe. This indicates that the heterozygous MME variants may not be fully penetrant, or alternatively, that they may be a potential risk factor for neuropathy. Here, we describe the clinical, neurophysiological, and genetic findings of 32 CM2T Italian patients.The patients were recruited from four different Italian referral centers. Following a comprehensive battery of neurological, electrophysiological, and laboratory examinations, the patients' DNA was subjected to sequencing in order to identify any variants in the gene. Bioinformatic and modeling analyses were performed to evaluate the identified variants' effects.We observe a relatively mild axonal sensory‐motor neuropathy with a greater impairment of the lower extremities. Biallelic and monoallelic patients exhibit comparable disease severity, with an earlier onset observed in those with biallelic variants. When considering a subgroup with more than 10 years of disease, it becomes evident that biallelic patients exhibit a more severe form of neuropathy. This suggests that they are more prone to quick progression.CM2T has been definitively defined as a late‐onset neuropathy, with a typical onset in the fifth to sixth decades of life and a more rapidly progressing worsening for biallelic patients. CMT2T can be included in the neuropathies of the elderly, particularly if MME variants heterozygous patients are included. [ABSTRACT FROM AUTHOR]
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- 2024
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25. Nonamyloidogenic TTR gene variants c.76G>A and c.337‐18G>C are not associated with idiopathic small‐fiber neuropathy.
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Konecki, Céline, Francou, Bruno, Chappell, Kenneth, Augey, Lucie, Beaudonnet, Guillemette, Cauquil, Cécile, Dimitri‐Boulos, Dalia, Not, Adeline, Adam, Clovis, Poinsignon, Vianney, Verstuyft, Céline, Adams, David, Echaniz‐Laguna, Andoni, and Labeyrie, Céline
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GENETIC variation , *IDIOPATHIC diseases , *DYSAUTONOMIA , *TRANSTHYRETIN , *NEUROPATHY - Abstract
Background and Purpose Methods Results Conclusions Small‐fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (TTR) gene, but not all TTR gene variants are pathogenic. The nonamyloidogenic c.76G>A (rs1800458) and c.337‐18G>C (rs36204272) variants of TTR were recently reported to be associated with SFN. We investigated this putative association by analyzing TTR gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group.In this retrospective single‐center study, we analyzed the frequency of the c.76G>A and c.337‐18G>C TTR gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database.We included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G>A TTR and 5.25% for c.337‐18G>C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database.The c.76G>A and c.337‐18G>C TTR gene variants are not associated with SFN. [ABSTRACT FROM AUTHOR]
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- 2024
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26. Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome.
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Dambietz, Christine Anna, Doescher, Andrea, Heming, Michael, Schirmacher, Anja, Schlüter, Bernhard, Schulte-Mecklenbeck, Andrea, Thomas, Christian, Wiendl, Heinz, Meyer zu Hörste, Gerd, and Wiethoff, Sarah
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FRAMESHIFT mutation ,GENE expression ,BLOOD groups ,GENETIC variation ,RNA ,CEREBROSPINAL fluid examination ,X chromosome - Abstract
Introduction: Pathogenic variants in the XK gene are associated with dysfunction or loss of XK protein leading to McLeod syndrome (MLS), a rare X-linked neuroacanthocytosis syndrome with multisystemic manifestation. Here we present clinical, genetic and immunological data on a patient originally admitted to our clinic for presumed post-COVID-19 syndrome, where thorough clinical work-up revealed a novel frameshift deletion in XK causal for the underlying phenotype. We additionally review the clinicogenetic spectrum of reported McLeod cases in the literature. Methods: We performed in-depth clinical characterization and flow cytometry of cerebrospinal fluid (CSF) in a patient where multi-gene panel sequencing identified a novel hemizygous frameshift deletion in XK. Additionally, Kell (K) and Cellano (k) antigen expression was analysed by Fluorescence-activated Cell Sorting (FACS). KEL gene expression was examined by RNA sequencing. Results: A novel hemizygous frameshift deletion in the XK gene resulting in premature termination of the amino acid chain was identified in a 46-year old male presenting with decrease in physical performance and persisting fatigue after COVID-19 infection. Examinations showed raised creatine kinase (CK) levels, neuropathy and clinical features of myopathy. FACS revealed the K-k+ blood type and reduced Cellano density. CSF flow cytometry showed elevation of activated T Cells. Conclusion: In-depth clinical, genetic, immunological and ribonucleic acid (RNA) expression data revealed axonal neuropathy, myopathy and raised levels of activated CSF-T-lymphocytes in a patient with a previously unpublished frameshift deletion in the XK gene. [ABSTRACT FROM AUTHOR]
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- 2024
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27. Quantitative proteomics unveils known and previously unrecognized alterations in neuropathic nerves.
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Defilippi, Victoria, Petereit, Juli, Handlos, Valerie J. L., and Notterpek, Lucia
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NERVE tissue proteins , *PERIPHERAL nervous system , *AMYOTROPHIC lateral sclerosis , *PEPTIDES , *NEUROLOGICAL disorders , *MYELIN proteins - Abstract
Charcot–Marie–Tooth disease type 1E (CMT1E) is an inherited autosomal dominant peripheral neuropathy caused by mutations in the peripheral myelin protein 22 (PMP22) gene. The identical leucine‐to‐proline (L16P) amino acid substitution in PMP22 is carried by the Trembler J (TrJ) mouse and is found in CMT1E patients presenting with early‐onset disease. Peripheral nerves of patients diagnosed with CMT1E display a complex and varied histopathology, including Schwann cell hyperproliferation, abnormally thin myelin, axonal degeneration, and subaxonal morphological changes. Here, we have taken an unbiased data‐independent analysis (DIA) mass spectrometry (MS) approach to quantify proteins from nerves of 3‐week‐old, age and genetic strain‐matched wild‐type (Wt) and heterozygous TrJ mice. Nerve proteins were dissolved in lysis buffer and digested into peptide fragments, and protein groups were quantified by liquid chromatography‐mass spectrometry (LC–MS). A linear model determined statistically significant differences between the study groups, and proteins with an adjusted p‐value of less than 0.05 were deemed significant. This untargeted proteomics approach identified 3759 quality‐controlled protein groups, of which 884 demonstrated differential expression between the two genotypes. Gene ontology (GO) terms related to myelin and myelin maintenance confirm published data while revealing a previously undetected prominent decrease in peripheral myelin protein 2. The dataset corroborates the described pathophysiology of TrJ nerves, including elevated activity in the proteasome‐lysosomal pathways, alterations in protein trafficking, and an increase in three macrophage‐associated proteins. Previously unrecognized perturbations in RNA processing pathways and GO terms were also discovered. Proteomic abnormalities that overlap with other human neurological disorders besides CMT include Lafora Disease and Amyotrophic Lateral Sclerosis. Overall, this study confirms and extends current knowledge on the cellular pathophysiology in TrJ neuropathic nerves and provides novel insights for future examinations. Recognition of shared pathomechanisms across discrete neurological disorders offers opportunities for innovative disease‐modifying therapeutics that could be effective for distinct neuropathies. [ABSTRACT FROM AUTHOR]
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- 2024
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28. Severe Optic Neuropathy Induced by Very Prolonged Tedizolid as Suppressive Therapy: Description of a Case Report and Implication for Better Assessment.
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Coustilleres, F, Thillard, E M, Khanna, R K, Olivereau, S, Ouaissi, M, Pansu, N, and Lez, M L Le
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VASCULAR grafts , *OXAZOLIDINONES , *LINEZOLID , *MEDICAL screening , *NEUROPATHY - Abstract
The long-term tolerability of linezolid is low because of mitochondrial toxicity, whereas tedizolid may represent a better option for suppressive therapy. We report a first presumed case of tedizolid-associated optic neuropathy after a very prolonged (18-month) intake and believe that screening for optic neuropathy should be considered for patients undergoing tedizolid suppression. [ABSTRACT FROM AUTHOR]
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- 2024
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29. Contraceptive implant migration to the ulnar nerve: A case report with literature review.
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Asaad, Saywan K., Salih, Nigar M., Hassan, Marwan N., Abid, Mohammed S., Hamid, Hawbash F., Ameen Ahmed, Nahidah H., Muhammad, Huda M., Ghafoor, Abdullah K., Othman, Snur, and Kakamad, Fahmi H.
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ULNAR nerve , *LITERATURE reviews , *PERIPHERAL nervous system , *FAMILY planning , *LOCAL anesthesia - Abstract
Key Clinical Message: Contraceptive implant migration is a rare complication associated with contraceptive implants: migration to the ulnar nerve, emphasizing the importance of accurate diagnosis, imaging, and a multidisciplinary approach to mitigate neurovascular risks during insertion and removal procedures. The case report demonstrates the necessity for careful removal techniques and thorough patient follow‐up to ensure positive outcomes and prevent long‐term nerve damage. There are some potential risks and complications associated with contraceptive implants, including neurovascular injury. The aim of this case report is to report a rare complication associated with contraceptive implants. A 32‐year‐old female, right‐hand dominant, presented to the orthopedic clinic for the extraction of a contraceptive implant (Implanon) from her left arm. She reported intermittent numbness in the ring and little fingers. Upon examination, the Implanon was not palpable. Both Phalen's test and Tinel signs were negative. An x‐ray of the arm revealed the implant's position. Under local anesthesia through a longitudinal incision, the Implanon was found within the perineurium of the ulnar nerve. Two weeks after the operation, the patient returned to the clinic. Upon examination, there were no indications of ulnar nerve neuropathy. If a patient undergoes subdermal implant‐associated pain or is at risk of neurovascular damage during removal, it is advisable to refer the patient to a family planning specialist experienced in handling challenging implant removals, and subsequently to a peripheral nerve surgeon, to optimize outcomes. The migration of a contraceptive implant to the ulnar nerve is an exceedingly rare but possible complication. [ABSTRACT FROM AUTHOR]
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- 2024
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30. Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.
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McCulloch, Mary Kate, Mehryab, Fatemeh, and Rashnonejad, Afrooz
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MYELIN proteins , *MYELIN sheath , *SCHWANN cells , *GENE therapy , *DENATURATION of proteins - Abstract
Charcot–Marie–Tooth type 1B (CMT1B) is a peripheral neuropathy caused by mutations in the gene encoding myelin protein zero (MPZ), a key component of the myelin sheath in Schwann cells. Mutations in the MPZ gene can lead to protein misfolding, unfolded protein response (UPR), endoplasmic reticulum (ER) stress, or protein mistrafficking. Despite significant progress in understanding the disease mechanisms, there is currently no effective treatment for CMT1B, with therapeutic strategies primarily focused on supportive care. Gene therapy represents a promising therapeutic approach for treating CMT1B. To develop a treatment and better design preclinical studies, an in-depth understanding of the pathophysiological mechanisms and animal models is essential. In this review, we present a comprehensive overview of the disease mechanisms, preclinical models, and recent advancements in therapeutic research for CMT1B, while also addressing the existing challenges in the field. This review aims to deepen the understanding of CMT1B and to encourage further research towards the development of effective treatments for CMT1B patients. [ABSTRACT FROM AUTHOR]
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- 2024
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31. Cardiac Autonomic Neuropathy Is Not Associated with Apolipoprotein E Gene Isoforms in the Kazakh Population: A Case–Control Study.
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Bekenova, Nazira, Aitkaliyev, Alisher, Vochshenkova, Tamara, Kassiyeva, Balzhan, and Benberin, Valeriy
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LOGISTIC regression analysis , *GENETIC polymorphisms , *CARDIAC patients , *NEUROPATHY , *EARLY diagnosis - Abstract
The absence of an early diagnosis of cardiac autonomic neuropathy might increase the risk of the disease, progressing to an irreversible stage. Therefore, this study aims to investigate the APOE gene isoforms in patients with cardiac autonomic neuropathy to identify early markers for predicting this disease in the Kazakh population. A total of 147 patients with cardiac neuropathy and 153 controls were examined in this case–control study. Patients were genotyped for two polymorphisms of the APOE gene using real-time PCR. Statistical calculations were performed using binary logistic regression. As a result of our study, we found that there was no statistically significant difference in the frequency of any APOE gene isoforms (APOE (ε2/ε2), APOE (ε2/ε3), APOE (ε2/ε4), APOE (ε3/ε3), or APOE (ε4/ε4)) between the patient group and the control group (p = 0.69, p = 0.64, p = 0.19, p = 0.22, p = 0.97, respectively). Thus, cardiac autonomic neuropathy is not associated with APOE gene isoforms in the Kazakh population. [ABSTRACT FROM AUTHOR]
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- 2024
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32. SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
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Rebelo, Adriana P, Abad, Clemer, Dohrn, Maike F, Li, Jian J, Tieu, Ethan K, Medina, Jessica, Yanick, Christopher, Huang, Jingyu, Zotter, Brendan, Young, Juan I, Saporta, Mario, Scherer, Steven S, Walz, Katherina, and Zuchner, Stephan
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PERIPHERAL nervous system , *PERIPHERAL neuropathy , *CHARCOT-Marie-Tooth disease , *MYELIN sheath , *SPRAGUE Dawley rats - Abstract
Biallelic SORD mutations cause one of the most frequent forms of recessive hereditary neuropathy, estimated to affect ∼10 000 patients in North America and Europe alone. Pathogenic SORD loss-of-function changes in the encoded enzyme sorbitol dehydrogenase result in abnormally high sorbitol levels in cells and serum. How sorbitol accumulation leads to peripheral neuropathy remains to be elucidated. A reproducible animal model for SORD neuropathy is essential to illuminate the pathogenesis of SORD deficiency and for preclinical studies of potential therapies. Therefore, we have generated a Sord knockout (KO), Sord −/−, Sprague Dawley rat, to model the human disease and to investigate the pathophysiology underlying SORD deficiency. We have characterized the phenotype in these rats with a battery of behavioural tests as well as biochemical, physiological and comprehensive histological examinations. Sord −/− rats had remarkably increased levels of sorbitol in serum, CSF and peripheral nerve. Moreover, serum from Sord −/− rats contained significantly increased levels of neurofilament light chain, an established biomarker for axonal degeneration. Motor performance significantly declined in Sord −/− animals starting at ∼7 months of age. Gait analysis evaluated with video motion-tracking confirmed abnormal gait patterns in the hindlimbs. Motor nerve conduction velocities of the tibial nerves were slowed. Light and electron microscopy of the peripheral nervous system revealed degenerating myelinated axons, de- and remyelinated axons, and a likely pathognomonic finding—enlarged 'ballooned' myelin sheaths. These findings mainly affected myelinated motor axons; myelinated sensory axons were largely spared. In summary, Sord −/− rats develop a motor-predominant neuropathy that closely resembles the human phenotype. Our studies revealed novel significant aspects of SORD deficiency, and this model will lead to an improved understanding of the pathophysiology and the therapeutic options for SORD neuropathy. [ABSTRACT FROM AUTHOR]
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- 2024
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33. Nav1.8 in small dorsal root ganglion neurons contributes to vincristine-induced mechanical allodynia.
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Lima, Ana Paula Nascimento de, Zhang, Huiran, Chen, Lubin, Effraim, Philip R, Gomis-Perez, Carolina, Cheng, Xiaoyang, Huang, Jianying, Waxman, Stephen G, and Dib-Hajj, Sulayman D
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DORSAL root ganglia , *SODIUM channels , *NEURON development , *KNOCKOUT mice , *PERIPHERAL neuropathy - Abstract
Vincristine-induced peripheral neuropathy is a common side effect of vincristine treatment, which is accompanied by pain and can be dose-limiting. The molecular mechanisms that underlie vincristine-induced pain are not well understood. We have established an animal model to investigate pathophysiological mechanisms of vincristine-induced pain. Our previous studies have shown that the tetrodotoxin-sensitive voltage-gated sodium channel Nav1.6 in medium-diameter dorsal root ganglion (DRG) neurons contributes to the maintenance of vincristine-induced allodynia. In this study, we investigated the effects of vincristine administration on excitability in small-diameter DRG neurons and whether the tetrodotoxin-resistant (TTX-R) Nav1.8 channels contribute to mechanical allodynia. Current-clamp recordings demonstrated that small DRG neurons become hyper-excitable following vincristine treatment, with both reduced current threshold and increased firing frequency. Using voltage-clamp recordings in small DRG neurons, we now show an increase in TTX-R current density and a −7.3 mV hyperpolarizing shift in the half-maximal potential (V1/2) of activation of Nav1.8 channels in vincristine-treated animals, which likely contributes to the hyperexcitability that we observed in these neurons. Notably, vincristine treatment did not enhance excitability of small DRG neurons from Nav1.8 knockout mice, and the development of mechanical allodynia was delayed but not abrogated in these mice. Together, our data suggest that sodium channel Nav1.8 in small DRG neurons contributes to the development of vincristine-induced mechanical allodynia. [ABSTRACT FROM AUTHOR]
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- 2024
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34. Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
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Record, Christopher J, Pipis, Menelaos, Skorupinska, Mariola, Blake, Julian, Poh, Roy, Polke, James M, Eggleton, Kelly, Nanji, Tina, Zuchner, Stephan, Cortese, Andrea, Houlden, Henry, Rossor, Alexander M, Laura, Matilde, and Reilly, Mary M
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WHOLE genome sequencing , *MEDICAL genetics , *CHARCOT-Marie-Tooth disease , *GENETIC testing , *MEDICAL genomics - Abstract
Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically heterogeneous inherited neurological diseases, with more than 130 disease-causing genes. Whole genome sequencing (WGS) has improved diagnosis across genetic diseases, but the diagnostic impact in CMT is yet to be fully reported. We present the diagnostic results from a single specialist inherited neuropathy centre, including the impact of WGS diagnostic testing. Patients were assessed at our specialist inherited neuropathy centre from 2009 to 2023. Genetic testing was performed using single gene testing, next-generation sequencing targeted panels, research whole exome sequencing and WGS and, latterly, WGS through the UK National Health Service. Variants were assessed using the American College of Medical Genetics and Genomics and Association for Clinical Genomic Science criteria. Excluding patients with hereditary ATTR amyloidosis, 1515 patients with a clinical diagnosis of CMT and related disorders were recruited. In summary, 621 patients had CMT1 (41.0%), 294 CMT2 (19.4%), 205 intermediate CMT (CMTi, 13.5%), 139 hereditary motor neuropathy (HMN, 9.2%), 93 hereditary sensory neuropathy (HSN, 6.1%), 38 sensory ataxic neuropathy (2.5%), 72 hereditary neuropathy with liability to pressure palsies (HNPP, 4.8%) and 53 'complex' neuropathy (3.5%). Overall, a genetic diagnosis was reached in 76.9% (1165/1515). A diagnosis was most likely in CMT1 (96.8%, 601/621), followed by CMTi (81.0%, 166/205) and then HSN (69.9%, 65/93). Diagnostic rates remained less than 50% in CMT2, HMN and complex neuropathies. The most common genetic diagnosis was PMP22 duplication (CMT1A; 505/1165, 43.3%), then GJB1 (CMTX1; 151/1165, 13.0%), PMP22 deletion (HNPP; 72/1165, 6.2%) and MFN2 (CMT2A; 46/1165, 3.9%). We recruited 233 cases to the UK 100 000 Genomes Project (100KGP), of which 74 (31.8%) achieved a diagnosis; 28 had been otherwise diagnosed since recruitment, leaving a true diagnostic rate of WGS through the 100KGP of 19.7% (46/233). However, almost half of the solved cases (35/74) received a negative report from the study, and the diagnosis was made through our research access to the WGS data. The overall diagnostic uplift of WGS for the entire cohort was 3.5%. Our diagnostic rate is the highest reported from a single centre and has benefitted from the use of WGS, particularly access to the raw data. However, almost one-quarter of all cases remain unsolved, and a new reference genome and novel technologies will be important to narrow the 'diagnostic gap'. [ABSTRACT FROM AUTHOR]
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- 2024
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35. Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
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Schaub, Annalisa, Erdmann, Hannes, Scholz, Veronika, Timmer, Manuela, Cordts, Isabell, Günther, Rene, Reilich, Peter, Abicht, Angela, and Schöberl, Florian
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MOTOR neuron diseases , *AMYOTROPHIC lateral sclerosis , *CEREBELLAR ataxia , *PHENOTYPIC plasticity , *NEUROPATHY , *MULTIPLE system atrophy , *SPINOCEREBELLAR ataxia - Abstract
Biallelic pathogenic repeat expansions in RFC1 were recently identified as molecular origin of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) as well as of one of the most common causes of adult-onset ataxia. In the meantime, the phenotypic spectrum has expanded massively and now includes mimics of multiple system atrophy or parkinsonism. After identifying a patient with a clinical diagnosis of amyotrophic lateral sclerosis (ALS) as a carrier of biallelic pathogenic repeat expansions in RFC1, we studied a cohort of 106 additional patients with a clinical main phenotype of motor neuron disease (MND) to analyze whether such repeat expansions are more common in MND patients. Indeed, two additional MND patients (one also with ALS and one with primary lateral sclerosis/PLS) have been identified as carrier of biallelic pathogenic repeat expansions in RFC1 in the absence of another genetic alteration explaining the phenotype, suggesting motor neuron disease as another extreme phenotype of RFC1 spectrum disorder. Therefore, MND might belong to the expanding phenotypic spectrum of pathogenic RFC1 repeat expansions, particularly in those MND patients with additional features such as sensory and/or autonomic neuropathy, vestibular deficits, or cerebellar signs. By systematically analyzing the RFC1 repeat array using Oxford nanopore technology long-read sequencing, our study highlights the high intra- and interallelic heterogeneity of this locus and allows the identification of the novel repeat motif 'ACAAG'. [ABSTRACT FROM AUTHOR]
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- 2024
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36. Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.
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Roggenbuck, Jennifer, Morales, Ana, Ellis, Colin A., Dratch, Laynie, Stetler, Molly, Tan, Christopher A., Bucknor, Brianna, Hatchell, Kathryn E., Aradhya, Swaroop, Esplin, Edward D., Ting, Yi‐Lee, and Scherer, Steven S.
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PERIPHERAL neuropathy , *LABORATORIES , *DESCRIPTIVE statistics , *LONGITUDINAL method , *GENETIC testing , *SEQUENCE analysis , *MOLECULAR diagnosis ,PERIPHERAL neuropathy diagnosis - Abstract
Background and Aims: Prior to next‐generation sequencing (NGS), the evaluation of a patient with neuropathy typically consisted of screening for acquired causes, followed by clinical genetic testing of PMP22, MFN2, GJB1, and MPZ in patients with a positive family history and symptom onset prior to age 50. In this study, we examined the clinical utility of NGS in a large cohort of patients analyzed in a commercial laboratory. Methods: A cohort of 6849 adult patients underwent clinician‐ordered peripheral neuropathy multigene panel testing ranging from 66 to 111 genes that included NGS and intragenic deletion/duplication analysis. Results: A molecular diagnosis was identified for 8.4% of the cohort (n = 573/6849). Variants in PMP22, MFN2, GJB1, MPZ, and TTR accounted for 73.8% of molecular diagnoses. Results had potential clinical actionability for 398 (69.5%) patients. Our results suggest that 225/573 (39.3%) of molecular diagnoses and 113/398 (28.4%) of clinical interventions would have been missed if the testing approach had been restricted to older guidelines. Interpretation: Our results highlight the need for expanded genetic testing guidelines that account for the increased number of genes associated with hereditary neuropathy, address the overlap of acquired and hereditary neuropathy, and provide broader access to genetic diagnosis for patients. [ABSTRACT FROM AUTHOR]
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- 2024
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37. Automated immunohistochemistry of intra‐epidermal nerve fibres in skin biopsies: A proof‐of‐concept study.
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Burgess, Jamie, Marshall, Anne, Rapteas, Leandros, Kevin, J. Hamill, Marshall, Andrew, Malik, Rayaz A., Frank, Bernhard, and Alam, Uazman
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NEUROPATHY , *BIOPSY , *DATA analysis , *RESEARCH funding , *NEURONS , *LABORATORIES , *PILOT projects , *FIBROMYALGIA , *DESCRIPTIVE statistics , *EPIDERMIS , *SKIN , *IMMUNOHISTOCHEMISTRY , *INTRACLASS correlation , *STATISTICS , *AUTOMATION , *COMPARATIVE studies , *DATA analysis software , *CONFIDENCE intervals , *INTER-observer reliability ,RESEARCH evaluation - Abstract
Aims: To develop a standardised, automated protocol for detecting protein gene product 9.5 (PGP9.5) positive intra‐epidermal nerve fibres (IENFs) in skin biopsies, transitioning from the established manual technique to an automated platform. This automated method, although currently intended for research applications, may improve the accessibility of this diagnostic test for small fibre neuropathy in clinical settings. Methods: Skin biopsies (n = 274) from 100 participants (fibromyalgia syndrome n = 62; idiopathic small fibre neuropathy: n = 16; healthy volunteers: n = 22) were processed using an automated immunohistochemistry platform. IENF quantification was performed by blinded examiners, with reliability assessed via a two‐way mixed‐effects model to evaluate inter‐ and intra‐observer variability. Results: The automated staining system reproduced intra‐epidermal nerve fibre density (IENFD) counts consistent with free‐floating sections (mean ± standard deviation: free‐floating: 5.6 ± 3.4 fibres/mm; automated: 5.9 ± 3.2 fibres/mm). A median difference of 0.3 with a lower bound 95% Confidence Interval (CI) at −0.00005 established non‐inferiority against a margin of −0.4 (p =.08). Specifically, the inter‐class correlation coefficient (class denotes consistency in measured observations) was 99% (95% CI: 0.9–1), indicating excellent agreement between free‐floating and automated methods. The inter‐ and intra‐class coefficient between examiners were both 99% (95% CI: 0.9–0.1) for IENFD, demonstrating high reliability using sections stained using the automated method. Interpretation: Automated immunohistochemistry provides high‐throughput reliable and reproducible intra‐epidermal nerve fibre quantification. This method, although currently proof‐of‐concept, for research use only, may be more widely deployed in histopathology laboratories to increase the adoption of IENFD assessment for the diagnosis of peripheral neuropathies. [ABSTRACT FROM AUTHOR]
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- 2024
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38. Clinical, histologic, and immunologic signatures of Small Fiber Neuropathy in Systemic Lupus Erythematosus.
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Galosi, Eleonora, Pirone, Carmelo, Ceccarelli, Fulvia, Esposito, Nicoletta, Falco, Pietro, Leopizzi, Martina, Di Maio, Valeria, Tramontana, Lorenzo, De Stefano, Gianfranco, Di Pietro, Giuseppe, Di Stefano, Giulia, Garufi, Cristina, Leone, Caterina, Natalucci, Francesco, Orefice, Valeria, Alessandri, Cristiano, Spinelli, Francesca Romana, Truini, Andrea, and Conti, Fabrizio
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SKIN innervation , *NEUROPATHY , *CROSS-sectional method , *BIOPSY , *DATA analysis , *STATISTICAL significance , *CYCLOSPORINE , *FISHER exact test , *MULTIPLE regression analysis , *SYSTEMIC lupus erythematosus , *MANN Whitney U Test , *MULTIVARIATE analysis , *DESCRIPTIVE statistics , *SKIN , *STATISTICS , *DATA analysis software , *NEURAL conduction , *DISEASE complications - Abstract
Background and Objectives: Systemic Lupus Erythematosus (SLE) often causes damage to small nerve fibers, leading to distressing painful and autonomic symptoms. Despite this, Small Fiber Neuropathy (SFN) remains an underrecognized complication for SLE patients. In this cross‐sectional study, we aimed to assess SFN in patients with SLE and to explore its correlations with immunologic disease features and clinical manifestations. Methods: We recruited 50 SLE patients (1 male to 12.5 females, aged 20–80 years) reporting painful disturbances. We conducted a comprehensive clinical and neurophysiological evaluation, using Nerve Conduction Studies and Quantitative Sensory Testing. Additionally, we carried out an extensive laboratory assessment of disease‐related serological parameters. We also performed a thorough skin biopsy analysis, investigating somatic and autonomic innervation while detecting complement and inflammatory cell infiltrates within the skin. Results: Out of 50 patients, 19 were diagnosed with SFN, primarily characterized by a non‐length‐dependent distribution; 7 had a mixed neuropathy, with both large and small fiber involvement. Patients with SFN were younger than patients with a mixed neuropathy (p =.0143); furthermore, they were more likely to have a history of hypocomplementemia (p =.0058) and to be treated with cyclosporine A (p =.0053) compared to patients without neuropathy. However, there were no significant differences in painful and autonomic symptoms between patients with and without SFN. Discussion: This study highlights the relevant frequency of SFN with a non‐length‐dependent distribution among SLE patients experiencing painful symptoms. Indeed, SFN emerges as an early manifestation of SLE‐related neuropathy and is closely associated with hypocomplementemia, suggesting a potential pathogenic role of the complement system. Moreover, SFN may be influenced by disease‐modifying therapies. However, the precise role of SFN in shaping painful and autonomic symptoms in patients with SLE remains to be fully elucidated. [ABSTRACT FROM AUTHOR]
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- 2024
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39. Pharmacologic management of trigeminal nerve injury after endodontic treatment: A retrospective analysis.
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Park, Keun Jeong, Choi, Eunhye, Jung, Il Young, and Kim, Seong Taek
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STEROIDS , *NONSTEROIDAL anti-inflammatory agents , *CUTANEOUS therapeutics , *COMBINATION drug therapy , *ACADEMIC medical centers , *ADENOSINE triphosphate , *TRIGEMINAL nerve , *TREATMENT effectiveness , *RETROSPECTIVE studies , *DESCRIPTIVE statistics , *VITAMIN B complex , *NUMBNESS , *ANTIDEPRESSANTS , *ROOT canal treatment , *MEDICAL records , *ACQUISITION of data , *NARCOTICS , *COMPARATIVE studies , *MAXILLARY nerve , *LIDOCAINE , *ANTICONVULSANTS - Abstract
Background: Trigeminal nerve injury following endodontic treatment, leading to unpleasant sensations or partial sensory loss in the face or oral mucosa, is uncommon but significant when it occurs. Objective: This study analysed the pharmacological management of trigeminal nerve injuries (TNI) in a university‐based hospital. Methods: We conducted a retrospective analysis of 47 patients who visited the Department of Orofacial Pain and Oral Medicine at Yonsei University Dental Hospital, Seoul, Korea, after TNI following endodontic procedures in primary clinics. Both objective tests and subjective evaluations, assessed the extent and duration of sensory injury during the initial visit. The patient's initial symptoms, presumed cause of TNI, referral delay (time interval between TNI and the first visit to our clinic), and medications were analysed to determine whether these factors affected the outcomes. Results: Most patients with TNI experienced dysesthesia with hypoesthesia (70.2%). The mandibular molars were predominantly affected (72.3%), with the inferior alveolar nerve (IAN), lingual nerve (LN), both IAN and LN, and maxillary nerve compromised in 83.0, 12.8, 2.1, and 2.1% of cases, respectively. Causes of TNI included local anaesthesia (29.8%), overfilling/over‐instrumentation (25.5%), endodontic surgery (17.0%), and unknown factors (27.7%). A shorter referral delay was associated with better outcomes, with an average delay of 8.6 weeks for symptom improvement compared with 44.1 weeks for no change. The medication regimens included steroids, NSAIDs, topical lidocaine, vitamin B complex, Adenosine Triphosphate (ATP), antiepileptics, antidepressants, and opioids administered alone or in combination, with a mean duration of 20.7 weeks. 53.2% of the patients reported improvement in their symptoms, 27.7% experienced no significant change, and 19.1% had unknown outcomes. Conclusions: Swift referral to an orofacial pain specialist is recommended for effective recovery in cases of TNI arising from endodontic treatment. [ABSTRACT FROM AUTHOR]
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- 2024
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40. Enhancement of Heme-Oxygenase 1 in the Injured Peripheral Nerve Following Sulforaphane Administration Fosters Regeneration via Proliferation and Maintenance of Repair Schwann Cells.
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Szepanowski, Fabian, Zipfel, Jaqueline, Szepanowski, Rebecca D., Eggert, Bianca, Güner, Nail-Mert, Szepanowski, Leon-Phillip, Kleinschnitz, Christoph, Mausberg, Anne K., and Stettner, Mark
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SCHWANN cells ,SCIATIC nerve injuries ,SCIATIC nerve ,CRUSH syndrome ,HEME oxygenase - Abstract
Nuclear erythroid 2-related factor 2 (Nrf2) and its downstream effector heme oxygenase 1 (HO-1) are commonly activated in response to cellular stresses. The elevated expression of HO-1 has been associated with markedly accelerated peripheral nerve regeneration. This study aimed to evaluate the impact of a naturally occurring dietary Nrf2/HO-1 activator—sulforaphane (SFN)—on regeneration in a murine sciatic nerve crush model. The beneficial safety profile of SFN has been thoroughly investigated and confirmed several times. Here, SFN was administered daily, starting immediately after C57BL/6 mice were subjected to sciatic nerve crush injury. Injured sciatic nerves were excised at various time points post injury for molecular, immunohistochemical and morphometric analyses. Moreover, functional assessment was performed by grip strength analysis and electrophysiology. Following SFN treatment, the early response to injury includes a modulation of autophagic pathways and marked upregulation of Nrf2/HO-1 expression. This enhancement of HO-1 expression was maintained throughout the regeneration phase and accompanied by a significant increase in repair Schwann cells. In these cells, elevated proliferation rates were observed. Significant improvements in grip strength test performance, nerve conduction velocity and remyelination were also noted following SFN treatment. Collectively, SFN modulates cytoprotective and autophagic pathways in the injured nerve, increasing the number of repair Schwann cells and contributing to effective nerve regeneration. Given the availability of SFN as a nutritional supplement, this compound might constitute a novel regenerative approach with broad patient accessibility and further studies on this topic are warranted. [ABSTRACT FROM AUTHOR]
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- 2024
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41. The experience of an adult diabetic foot unit continuing face‐to‐face consults during the COVID‐19 pandemic.
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Gong, Joanna Y., Collins, Lucy, Barmanray, Rahul D., Pang, Nang S. K., Le, Minh V., and Wraight, Paul R.
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FOOT amputation , *EMERGENCY management , *DIABETIC foot , *LEG amputation , *AMPUTATION , *CORONAVIRUSES - Abstract
Background and Aims Methods Results Conclusions The COVID‐19 pandemic significantly disrupted lower limb diabetes care. We aimed to map trends in diabetes‐related lower limb amputation and hospitalisation rates through the COVID‐19 pandemic.We performed a retrospective cohort study of all individuals who underwent a lower limb amputation for a diabetes‐related foot complication from 2018 to 2021 at the Royal Melbourne Hospital, a quaternary hospital in Australia. Hospitalisation rates with a diabetes‐related foot complication were collected for comparison. The start of the COVID‐19 epoch was defined as 16 March 2020, when a state of emergency was declared in Melbourne.During the study period, 360 lower limb amputations for diabetes‐related foot complications were performed in 247 individuals. The median monthly number of amputations remained stable prior to and during the COVID‐19 epoch; there was a median of 8.0 amputations per month (interquartile range (IQR) = 6.5–11) before COVID‐19, compared to 6.5 amputations (IQR = 5.0–8.3) during the COVID‐19 epoch (P = 0.23). Hospitalisation with a diabetes‐related foot complication significantly increased from a median monthly rate of 11 individuals (IQR = 9.0–14) before COVID‐19 to 19 individuals (IQR = 14–22) during the COVID‐19 epoch (p < 0.001).Despite increased hospitalisations for diabetes‐related foot complications during COVID‐19, there was not a corresponding increase in amputation rates. Face‐to‐face care of diabetes‐related foot complications was prioritised at this centre and may have contributed to stable amputation rates during the pandemic. [ABSTRACT FROM AUTHOR]
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- 2024
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42. Pain hypersensitivity, sensorimotor impairment, and decreased muscle force in a novel rat model of radiation‐induced peripheral neuropathy.
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Vittert, Allison B., Daniel, Melissa, Svientek, Shelby R., Risch, Mary Jane, Nelson, Noah S., Donneys, Alexis, Dehdashtian, Amir, Sacks, Gina N., Buchman, Steven R., and Kemp, Stephen W. P.
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LABORATORY rats , *PERIPHERAL neuropathy , *NEURALGIA , *TRAILS , *ANIMAL experimentation - Abstract
Introduction Methods Results Conclusions Radiation‐induced peripheral neuropathy is a rare, but serious complication often resulting in profound morbidity, life‐long disability, and chronic debilitating pain. Unfortunately, this type of peripheral neuropathy is usually progressive, and almost always irreversible. To date, a standardized rat model of radiation‐induced peripheral neuropathy has not been established. The purpose of the present study was to examine neuropathic pain, sensorimotor impairment, and muscle force parameters following the administration of a clinically relevant radiation dose in a rat model.Ten rats were randomly assigned to one of two experimental groups: (1) radiation and (2) sham‐radiated controls. Radiated animals were given a clinically relevant dose of 35 Gray (Gy) divided into five daily doses of 7 Gy/day. This regimen represents a human equivalent dose of 70 Gy, approximating the same dosage utilized for radiotherapy in oncologic patients. Sham‐radiated controls were anesthetized and placed in the radiation apparatus but were not given radiation. All animals were tested for baseline values in both sensorimotor and pain behavioral tests. Sensorimotor testing consisted of the evaluation of walking tracks with the calculation of the Sciatic Functional Index (SFI). Pain‐related behavioral measures consisted of mechanical allodynia (von Frey test), cold allodynia (Acetone test), and thermal allodynia (Hargreaves test). Animals were tested serially over an 8‐week period. At the study endpoint, electrophysiological and muscle force assessments were completed, and histomorphometric analysis was performed on all sciatic nerves.Animals that underwent radiation treatment displayed significantly greater pain hypersensitivity to mechanical stimulation as compared to sham radiated controls from weeks 4 to 8 of testing. SFI values indicated sensorimotor impairments in the overground gait of radiated animals as compared to non‐radiated animals. Furthermore, radiated animals displayed reduced twitch and tetanic muscle force when compared to sham radiated controls.A clinically relevant human equivalent dose of fractionated 35 Gy in rats established significant pain hypersensitivity, impairments in sensorimotor locomotion, and decreased muscle force capacity. This novel rodent model of radiation‐induced peripheral neuropathy can be utilized to assess the potential efficacy of therapeutic treatments to either prevent or remediate this clinically debilitating condition. [ABSTRACT FROM AUTHOR]
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- 2024
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43. Unraveling the RAGE-NF-κB pathway: implications for modulating inflammation in diabetic neuropathy through photobiomodulation therapy.
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Ferreira, Nathalia Lopes, Rocha, Igor Rafael Correia, and Chacur, Marucia
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PERIPHERAL nervous system , *TYPE 1 diabetes , *NF-kappa B , *ADVANCED glycation end-products , *CENTRAL nervous system - Abstract
Diabetic peripheral neuropathy (DPN) is a primary complication observed in diabetes that severely affects quality of life. Recent evidence suggests that photobiomodulation (PBM) is a promising therapy against painful conditions and nerve damage. However, the effects of PBM on DPN remains mostly unknown. In the present study, we investigated the efficacy of PBM therapy in modulating proinflammatory cytokine expression in both central and peripheral nervous systems of rats with Streptozotocin (STZ)-induced type 1 diabetes. Male Wistar rats were allocated into control (naïve), diabetic (STZ), and treatment (STZ + PBM) groups. A single intraperitoneal (i.p.) injection of STZ (85 mg/kg) was administered for the induction of diabetes. Animals were subjected to 10 treatment sessions, every other day. The results herein presented indicate that PBM treatment diminishes Receptor for Advanced Glycation End-products (RAGE) and Nuclear Factor Kappa B (NF-ϰB) expression in peripheral nervous system and suppresses TNF-α expression in central nervous system tissues. Furthermore, PBM-therapy in diabetic rats also induces increased levels of the anti-inflammatory protein IL-10 in both peripheral and central nervous system. Collectively, our findings demonstrate compelling evidence that PBM-therapy modulates cytokine dynamics and influences RAGE/NF-ϰB axis in a STZ-induced model of type 1 diabetes. [ABSTRACT FROM AUTHOR]
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- 2024
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44. Empowering beyond Pain: Pain Neuroscience Education Interventions in Breast Cancer Survivorship Care.
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Balordi, Marco, Tiberio, Paola, Castaldo, Matteo, Viganò, Alessandro, Jacobs, Flavia, Zambelli, Alberto, Santoro, Armando, and De Sanctis, Rita
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CANCER pain treatment , *PATIENT education , *PHYSICAL therapy , *MEDICAL education , *POSTOPERATIVE pain , *BREAST tumors , *CANCER patient medical care , *NEUROSCIENCES , *CANCER patients , *PSYCHOLOGICAL adaptation , *PAIN management , *QUALITY of life , *PAIN , *ALTERNATIVE education , *DISEASE complications - Abstract
Simple Summary: Chronic cancer-related pain, caused by surgery, radiotherapy, or systemic treatments, affects almost half of all breast cancer patients, and current therapeutic options are insufficient. Pain neuroscience education (PNE) has provided relief in many chronic pain syndromes but has been rarely applied in the cancer field. PNE is also without side effects and could therefore be implemented at different moments of the patient's journey. We analyzed trials investigating PNE efficacy for managing breast cancer-related pain, identifying methodological issues that should be addressed in future studies to obtain high-quality data. Chronic pain is a common consequence of breast cancer (BC) and its treatments. Pain neuroscience education (PNE) is a non-pharmacological intervention that adopts a biopsychosocial approach and has already been proven to be effective for different chronic pain syndromes. The present review aims to critically assess clinical trials comparing the efficacy of PNE to traditional biomedical education (BME) in reducing BC-related pain and improving quality of life. We conducted a literature search in scientific databases, including all studies regarding PNE use specifically for BC-related pain. Ongoing randomized controlled and observational studies were identified from ClinicalTrials.gov and congress proceedings. A total of eight clinical trials met the review criteria. The participants were all administered physical therapy and assigned to receive either BME or PNE interventions. Among the completed clinical studies, one reported no statistically relevant differences between the two groups, whereas the other showed lower levels of pain-related indexes in the PNE population compared to the BME one. While the current literature is inconclusive regarding the effectiveness of PNE for managing BC pain, we strongly support the need for further trials, as PNE could empower BC patients in both prevention of and coping with pain, offering the advantage of having no side effects. [ABSTRACT FROM AUTHOR]
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- 2024
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45. Erythropoietin for the Treatment of Methanol Toxic Optic Neuropathy: Does It Really Work? A Case Series.
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Badeeb, Nooran O., Alharazi, Shaima, Mohammedsaleh, Asmaa, Hijazi, Hasan, M. Sadaga, Nihal, and Hadrawi, Manal
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ERYTHROPOIETIN , *NEUROPATHY , *ATROPHY , *METHANOL , *VISION - Abstract
Erythropoietin (EPO) has demonstrated neuroprotective properties and has been used in small case series to treat methanol optic neuropathy. This study aims to evaluate the effectiveness of EPO. This retrospective case series included data from patients diagnosed with methanol optic neuropathy between November 2022 and December 2023 from two centers in Jeddah, Saudi Arabia. Demographic information, time of consumption of methanol to EPO treatment, and other treatments administered were collected. Vision assessment was performed before and after EPO treatment. A total of 8 male patients were included, with an average age of 38.25 ± 7.15 years. The median duration of the follow-up was 66 days, ranging from 13 to 660 days. The means of vision in the logMAR of both eyes before EPO treatment was 1.98 ± 1.08, which changed to 1.87 ± 0.89 after EPO treatment. Patient’s presenting vision before EPO treatment is a significant positive predictor for the vision after treatment with coefficient = 0.782 and 95% CI = 0.349, 0.936. Time to EPO treatment was not statistically significant in defining end vision. Treating methanol optic neuropathy is challenging and time sensitive. In this case series, EPO and adjuvant steroids showed variable effects on visual improvement. Although the vision improved after the treatment, these differences were not statistically significant. Repeat EPO did not give better outcomes. Long-term follow-up is needed to determine the overall impact of EPO treatment. [ABSTRACT FROM AUTHOR]
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- 2024
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46. Nucleoside Reverse Transcriptase Inhibitors Are the Major Class of HIV Antiretroviral Therapeutics That Induce Neuropathic Pain in Mice.
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Bush, Keegan, Wairkar, Yogesh, and Tang, Shao-Jun
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NUCLEOSIDE reverse transcriptase inhibitors , *NON-nucleoside reverse transcriptase inhibitors , *ANTI-HIV agents , *HIV , *DIAGNOSIS , *INTEGRASE inhibitors - Abstract
The development of combination antiretroviral therapy (cART) has transformed human immunodeficiency virus (HIV) infection from a lethal diagnosis into a chronic disease, and people living with HIV on cART can experience an almost normal life expectancy. However, these individuals often develop various complications that lead to a decreased quality of life, some of the most significant of which are neuropathic pain and the development of painful peripheral sensory neuropathy (PSN). Critically, although cART is thought to induce pain pathogenesis, the relative contribution of different classes of antiretrovirals has not been systematically investigated. In this study, we measured the development of pathological pain and peripheral neuropathy in mice orally treated with distinct antiretrovirals at their translational dosages. Our results show that only nucleoside reverse transcriptase inhibitors (NRTIs), not other types of antiretrovirals such as proteinase inhibitors, non-nucleoside reverse transcriptase inhibitors, integrase strand transfer inhibitors, and CCR5 antagonists, induce pathological pain and PSN. Thus, these findings suggest that NRTIs are the major class of antiretrovirals in cART that promote the development of neuropathic pain. As NRTIs form the essential backbone of multiple different current cART regimens, it is of paramount clinical importance to better understand the underlying mechanism to facilitate the design of less toxic forms of these drugs and/or potential mitigation strategies. [ABSTRACT FROM AUTHOR]
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- 2024
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47. Approach to gait disorders and orthotic management in adult onset neuromuscular diseases.
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Chiou‐Tan, Faye Y. and Bloodworth, Donna
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NEUROMUSCULAR diseases , *MOTOR neurons , *SENSORY disorders , *GAIT disorders , *MUSCLE weakness - Abstract
In order to understand abnormal gait, this article will first review normal gait, discuss how neuromuscular diseases disturb gait patterns and review orthotic interventions. In normal gait, concentric contractions accelerate and eccentric contractions decelerate the limb. Neuromuscular gait disorders can be grouped into (1) proximal weakness, (2) distal weakness, (3) nonlength‐dependent or generalized weakness, (4) asymmetric weakness, and (5) sensory disorders. Identification of gait disturbance type in neuromuscular diseases leads to the appropriate orthotic prescription since orthotic strategies are grouped into (1) proximal weakness, (2) distal weakness, and (3) sensory disturbances. Orthotics is not indicated in all types of gait disturbance. Weakness in proximal hip musculature can be managed with gait aids such as walkers. In contrast, distal muscle weakness can be managed with orthotics. Preservation of gait assists in maintenance of daily function and integration in society. [ABSTRACT FROM AUTHOR]
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- 2024
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48. Study the Correlation Between the Indian Diabetes Risk Score (IDRS) Value and Microvascular Complications in Newly Diagnosed Type 2 Diabetes Mellitus.
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Agarwal, Pradeep, Suthar, Akashkumar, Rijhwani, Puneet, Suthar, Gautambhai, Gupta, Deepak, Jat, Ram K, Choudhary, Shrikant, Kumar, Vinit, Bhargava, Varun, and Jain, Jainendra
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TYPE 2 diabetes , *DISEASE risk factors , *DIABETES , *PEOPLE with diabetes , *PERIPHERAL neuropathy - Abstract
Background The initiation of type-2 diabetes mellitus (T2DM) is frequently asymptomatic and gradual. One reason newly diagnosed type-2 diabetes mellitus patients have a higher risk of microvascular problems is untreated long-standing hyperglycemia. The objective of our study was to evaluate the frequency of microvascular problems in recently diagnosed patients with type 2 diabetes mellitus at a tertiary care hospital in India. Material and Methods: A cross-sectional study was undertaken in the medicine department of a tertiary care hospital. The study included a cohort of 100 patients who were recently diagnosed with type 2 diabetes mellitus. Microvascular complications were diagnosed after a thorough study of the patient's medical history, clinical assessment, and pertinent diagnostic tests. Results: Subjects who had an IDRS score of 60 or higher showed a higher occurrence of peripheral neuropathy (86.5% vs 13.5%, p=0.371), retinopathy (91.7% vs 8.3%, p=0.157), and nephropathy (77.8% vs 22.2%, p=0.410) compared to subjects with an IDRS score below 60. However, there was no statistically significant difference in the occurrence of microvascular problems between the two IDRS subgroups. Those diagnosed with nephropathy exhibit a statistically significant higher average IDRS score compared to those without nephropathy (65.00±17.32 vs 62.66±12.50, p-value = 0.037). However, no statistically significant difference was detected in the mean values of the IDRS scores of the other two microvascular complications. Conclusion: IDRS is a valuable tool for predicting newly diagnosed type 2 diabetes mellitus. However, further large, multi-centric studies will be required to detect its usefulness in microvascular complications. [ABSTRACT FROM AUTHOR]
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- 2024
49. Pharmacist-lead screening for diabetic peripheral neuropathy using Michigan Neuropathy Screening Instrument (MNSI).
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Matalqah, Laila M., Yehya, Alaa, and Radaideh, Khaldoon M.
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Diabetic peripheral neuropathy (DPN) is highly prevalent among Jordanian patients, mostly are asymptomatic. Early recognition and appropriate management of neuropathy is important to improve symptoms, reduce sequelae, and improve quality of life. This study aims at exploring the role of pharmacists in the early recognition of DPN and providing quick screening for the presence of it among diabetic patients. A cross-sectional study was conducted at multi-pharmacy settings, in Irbid, Jordan. Twenty trained pharmacists who had bachelor's degrees in pharmacy participated in data collection. A total of 400 patients with confirmed diagnosis of type 2 diabetes mellitus (DM) according to the World Health Organization diagnostic criteria were recruited. DPN was assessed using the translated Arabic version of Michigan Neuropathy Screening Instrument (MNSI) history version. The mean MNSI questionnaire score for all participants was 4.40 ± 3.00. Mean age of the patients was 62.6 ± 10.7 years old and duration of diabetes was 8.25 ± 6.9. DN was present in 23.7% of the population. Diabetic patients with neuropathy were older than patients without neuropathy (p < 0.05) and had had diabetes longer (p < 0.05). Poor glycemic control, hypertension and gender, were significantly risk factors for DN (p < 0.05). In addition to delivering medications, this study suggests that pharmacists can have a role in screening and counseling about diabetic peripheral neuropathy using a simple objective, and non-invasive tool and also can determine level of damage and risk. [ABSTRACT FROM AUTHOR]
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- 2024
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50. Duloxetine to prevent neuropathy in breast cancer patients under paclitaxel chemotherapy (a double-blind randomized trial).
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Aghili, Mahdi, Taherioun, Maryam, Jafari, Fatemeh, Azadvari, Mohaddeseh, Lashkari, Marzieh, Kolahdouzan, Kasra, Ghalehtaki, Reza, and Abdshah, Alireza
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DULOXETINE , *BREAST cancer , *PACLITAXEL , *CANCER patients , *NEUROPATHY - Abstract
Purpose: Chemotherapy-induced peripheral neuropathy (CIPN) is one of the major side effects and main reasons for affecting quality of life and dose reduction or even discontinuation of treatment in breast cancer patients. One of the most widely prescribed chemotherapies is the "taxanes." Considering that duloxetine has been used in treating neuropathies in recent years, this study aimed to investigate its effectiveness in preventing taxane-related neuropathy. Material and methods: This is a randomized controlled trial on 47 patients: 24 received a placebo and 23 received duloxetine at 30 mg daily in the first week following the injection of paclitaxel and 60 mg during the second week in each chemotherapy cycle. Patients objective (nerve conduction velocity (NCV) values) and subjective symptoms (visual analog scale including; neuropathy, paresthesia, pain, cold sensitivity, and numbness), the grades of the patients' neuropathy (calculated according to Common Terminology Criteria for Adverse Events (CTCAE) v.5), and the presence of complications, before and after each chemotherapy cycle, were recorded. Results: The placebo group experienced significantly higher occurrences of new neuropathy (8/23 in duloxetine vs 16/24 in placebo, P = 0.029) in NCV by tibial nerve latency (− 0.28% vs 19.87%, P = 0.006), tibial amplitude (4.40% vs − 10.88%, P = 0.049), and median nerve latency (8.72% vs 31.16%, P = 0.039); administration of duloxetine significantly reduced the scores of neuropathies (P < 0.001), pain (P = 0.027), during chemotherapy, and 6 weeks later; however, no significant effect was observed on paresthesia, numbness, cold sensitivity, and other NCV measurements. Conclusions: Paclitaxel can cause neuropathy, lasting for a long time. Our study showed duloxetine is potentially an effective medication that can prevent subjective and objective neuropathy. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
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