keyword
https://read.qxmd.com/read/38255121/multifractal-heart-rate-value-analysis-a-novel-approach-for-diabetic-neuropathy-diagnosis
#21
JOURNAL ARTICLE
Andrea Coppola, Sergio Conte, Donatella Pastore, Francesca Chiereghin, Giulia Donadel
Type 2 diabetes mellitus (T2DM) is characterized by several complications, such as retinopathy, renal failure, cardiovascular disease, and diabetic neuropathy. Among these, neuropathy is the most severe complication, due to the challenging nature of its early detection. The linear Hearth Rate Variability (HRV) analysis is the most common diagnosis technique for diabetic neuropathy, and it is characterized by the determination of the sympathetic-parasympathetic balance on the peripheral nerves through a linear analysis of the tachogram obtained using photoplethysmography...
January 17, 2024: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/38245319/the-pathogenesis-of-painful-diabetic-neuropathy-and-clinical-presentation
#22
JOURNAL ARTICLE
Troels Staehelin Jensen
Diabetic neuropathy is a common complication of diabetes that affects up to 50% of patients during the course of the disease; 20-30% of the patients also develop neuropathic pain. The mechanisms underlying neuropathy are not known in detail, but both metabolic and vascular factors may contribute to the development of neuropathy. The development of the most common type of neuropathy is insidious, often starting distally in the toes and feet and gradually ascending up the leg and later also involving fingers and hands...
December 2023: Diabetes Research and Clinical Practice
https://read.qxmd.com/read/38233858/transient-immune-activation-without-loss-of-intraepidermal-innervation-and-associated-schwann-cells-in-patients-with-complex-regional-pain-syndrome
#23
JOURNAL ARTICLE
Beate Hartmannsberger, Sabrina Scriba, Carolina Guidolin, Juliane Becker, Katharina Mehling, Kathrin Doppler, Claudia Sommer, Heike L Rittner
BACKGROUND: Complex regional pain syndrome (CRPS) develops after injury and is characterized by disproportionate pain, oedema, and functional loss. CRPS has clinical signs of neuropathy as well as neurogenic inflammation. Here, we asked whether skin biopsies could be used to differentiate the contribution of these two systems to ultimately guide therapy. To this end, the cutaneous sensory system including nerve fibres and the recently described nociceptive Schwann cells as well as the cutaneous immune system were analysed...
January 17, 2024: Journal of Neuroinflammation
https://read.qxmd.com/read/38227798/morc2a-variants-cause-hydroxyl-radical-mediated-neuropathy-and-are-rescued-by-restoring-ghkl-atpase
#24
JOURNAL ARTICLE
Hye Yoon Chung, Geon Seong Lee, Soo Hyun Nam, Jeong Hyeon Lee, Jeong Pil Han, Sumin Song, Gap-Don Kim, Choonkyun Jung, Do Young Hyeon, Daehee Hwang, Byung-Ok Choi, Su Cheong Yeom
Mutations in the Microrchidia CW-Type Zinc Finger 2 (MORC2) GHKL ATPase module cause a broad range of neuropathies, such as Charcot-Marie-Tooth disease type 2Z; however, the aetiology and therapeutic strategy are not fully understood. Previously, we reported that the Morc2a p.S87L mouse model exhibited neuropathy and muscular dysfunction through DNA damage accumulation. In the present study, we analysed the gene expression of Morc2a p.S87L mice and designated the primary causing factor. We investigated the pathological pathway using Morc2a p...
January 16, 2024: Brain
https://read.qxmd.com/read/38215901/vascular-read-out-for-trp-channel-functionality-on-distal-peripheral-nerve-endings-in-healthy-men
#25
JOURNAL ARTICLE
Heleen Marynissen, Charlien Janssen, Dorien Bamps, Jan de Hoon
BACKGROUND: Quantification of the vasodilation after topical application of capsaicin or cinnamaldehyde is often implemented to indirectly assess Transient Receptor Potential (TRP) Vanilloid 1 (TRPV1) or Ankyrin 1 (TRPA1) functionality respectively. This method has been well-established on the human forearm. However, to enable TRP functionality assessments in distal peripheral neuropathy, the vascular response upon TRP activation on dorsal finger skin was characterized. METHODS: Two doses of cinnamaldehyde (3 % and 10 % v/v) and capsaicin (300 μg and 1000 μg) were topically applied (20 μL) on the skin of the mid three proximal phalanges in 17 healthy men...
January 10, 2024: Microvascular Research
https://read.qxmd.com/read/38204468/a-novel-heterozygous-de-novo-morc2-missense-variant-causes-an-early-onset-and-severe-neurodevelopmental-disorder
#26
Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park
Microrchidia CW-type zinc finger protein 2 (MORC2) is an ATPase-containing nuclear protein which regulates transcription through chromatin remodelling and epigenetic silencing. MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with disorders including Charcot-Marie-Tooth type 2Z disease, spinal muscular atrophy and, more recently, a neurodevelopmental syndrome consisting of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN), presenting with hypotonia, microcephaly, brain atrophy, intellectual disability, hearing loss, faltering growth, and craniofacial dysmorphism...
2024: Case Reports in Genetics
https://read.qxmd.com/read/38197134/adaptive-long-read-sequencing-reveals-ggc-repeat-expansion-in-zfhx3-associated-with-spinocerebellar-ataxia-type-4
#27
JOURNAL ARTICLE
Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, Clarissa Rocca, Eleanor Self, Pilar Alvarez Jerez, Annarita Scardamaglia, David Pellerin, Kylie Montgomery, Jasmaine Lee, Delia Gagliardi, Huihui Luo, John Hardy, James Polke, Andrew B Singleton, Cornelis Blauwendraat, Katherine D Mathews, Arianna Tucci, Ying-Hui Fu, Henry Houlden, Mina Ryten, Louis J Ptáček
BACKGROUND: Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant ataxia with invariable sensory neuropathy originally described in a family with Swedish ancestry residing in Utah more than 25 years ago. Despite tight linkage to the 16q22 region, the molecular diagnosis has since remained elusive. OBJECTIVES: Inspired by pathogenic structural variation implicated in other 16q-ataxias with linkage to the same locus, we revisited the index SCA4 cases from the Utah family using novel technologies to investigate structural variation within the candidate region...
January 10, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38171948/gene-therapy-for-mitochondrial-disorders
#28
REVIEW
Nandaki Keshavan, Michal Minczuk, Carlo Viscomi, Shamima Rahman
In this review, we detail the current state of application of gene therapy to primary mitochondrial disorders (PMDs). Recombinant adeno-associated virus-based (rAAV) gene replacement approaches for nuclear gene disorders have been undertaken successfully in more than ten preclinical mouse models of PMDs which has been made possible by the development of novel rAAV technologies that achieve more efficient organ targeting. So far, however, the greatest progress has been made for Leber Hereditary Optic Neuropathy, for which phase 3 clinical trials of lenadogene nolparvovec demonstrated efficacy and good tolerability...
January 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38130808/presentation-of-ocular-syphilis-with-bilateral-optic-neuropathy
#29
Mustafa Kayabaşı, Seher Köksaldı, Ali Osman Saatci, Meltem Söylev Bajin
A 60-year-old otherwise healthy male presented with a 1 year history of bilateral progressive visual loss. His best-corrected visual acuity was counting fingers at 2 m with his right eye and counting fingers at 0.5 m with his left eye. Visual field testing revealed bilateral near-total loss of visual fields. Slit-lamp examination was unremarkable, apart from bilateral grade two nuclear sclerotic cataracts. Both optic discs were pale-looking with some retinal pigment epithelial alterations at the left papillomacular region...
2023: Neuro-ophthalmology
https://read.qxmd.com/read/38070689/preliminary-evaluation-of-novel-bodily-attention-task-to-assess-the-role-of-the-brain-in-chemotherapy-induced-peripheral-neurotoxicity-cipn
#30
JOURNAL ARTICLE
Thushini Manuweera, Amelia Wagenknecht, Amber S Kleckner, Susan G Dorsey, Shijun Zhu, Madalina E Tivarus, Shelli R Kesler, Aaron Ciner, Ian R Kleckner
Chemotherapy-induced peripheral neurotoxicity (CIPN) is a common, sometimes dose-limiting side effect of neurotoxic chemotherapy. Treatment is limited because its pathophysiology is poorly understood. Compared to research on peripheral mechanisms, the role of the brain in CIPN is understudied and it may be important to develop better treatments. We propose a novel task that assesses brain activation associated with attention to bodily sensations (interoception), without the use of painful stimulation, to understand how CIPN symptoms may be processed in the brain...
December 7, 2023: Behavioural Brain Research
https://read.qxmd.com/read/38064585/charcot-arthropathy-of-the-digit-a-report-of-2-cases
#31
JOURNAL ARTICLE
Matthew D Rich, Christina M Ward
CASE: Charcot arthropathy (CA) is a progressive degenerative joint disease typically affecting lower extremity weight-bearing joints, with only a few cases reported in the fingers. We present 2 cases of interphalangeal joint CA: the long finger distal interphalangeal joint in a 73-year-old man with severe carpal tunnel syndrome and the ring finger proximal interphalangeal joint of a 71-year-old woman with diabetic neuropathy. CONCLUSION: Two cases of CA of the digits were treated with splinting with resolution of symptoms and no wound complications...
October 1, 2023: JBJS Case Connector
https://read.qxmd.com/read/38056167/functional-outcome-of-tardy-ulnar-nerve-palsy-manifests-after-25-years-due-to-nonunion-of-lateral-epicondyle-left-humerus-treated-by-ulnar-nerve-transposition-a-case-report
#32
Karya Triko Biakto, Ira Nong, Tri Kurniawan
INTRODUCTION: Tardy ulnar nerve palsy is a chronic clinical condition characterized by delayed-onset ulnar neuropathy. CASE PRESENTATION: Male 36 years old with 5 years clawing left ring and little finger, weakness of intrinsic muscle and grip, and paresthesia on ulnar nerve distribution. There was a history of elbow trauma 30 years ago. The radiological finding is a non-union of the lateral condyle without significant valgus. Intraoperatively, an intact ulnar nerve was discovered with no significant fibrous tissue...
November 28, 2023: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38043036/amyloidosis-and-considerations-for-the-hand-surgeon
#33
REVIEW
Chelsea R Brown, James D Bergin, D Nicole Deal
Amyloidosis can lead to cardiac, renal, and other multiorgan failure. New treatments have become available that can prolong survival but rely on early diagnosis. Manifestations of amyloidosis in hand surgery include carpal tunnel syndrome, trigger finger, peripheral neuropathy, and spontaneous distal biceps rupture. Often, these can predate systemic amyloidosis, offering hand surgeons an opportunity to diagnose patients with amyloidosis before systemic disease, refer them for treatment, and potentially alter disease course and prolong survival...
December 2, 2023: Journal of Hand Surgery
https://read.qxmd.com/read/38035881/exonic-trinucleotide-repeat-expansions-in-zfhx3-cause-spinocerebellar-ataxia-type-4-a-poly-glycine-disease
#34
JOURNAL ARTICLE
Joel Wallenius, Efthymia Kafantari, Emma Jhaveri, Sorina Gorcenco, Adam Ameur, Christin Karremo, Sigurd Dobloug, Kristina Karrman, Tom de Koning, Andreea Ilinca, Maria Landqvist Waldö, Andreas Arvidsson, Staffan Persson, Elisabet Englund, Hans Ehrencrona, Andreas Puschmann
Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific combined phenotype that we described in two Swedish kindreds in 2014; its genetic cause had remained unknown. Here, we report the discovery of exonic GGC trinucleotide repeat expansions, encoding poly-glycine, in zinc finger homeobox 3 (ZFHX3) in these families. The expansions were identified in whole-genome datasets within genomic segments that all affected family members shared. Non-expanded alleles carried one or more interruptions within the repeat...
January 4, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38024084/reported-symptoms-and-associated-factors-of-carpal-tunnel-syndrome-in-qassim-region-a-cross-sectional-study
#35
JOURNAL ARTICLE
Linah S Alduraibi, Rana I Alsamani, Jana M Alfayyadh, Samer A Almuqairsha
Background Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy, occurring through compression of the median nerve as it passes under the transverse carpal ligament. Symptoms include nocturnal pain and paresthesias confined to the thumb, middle, and index fingers. Objective The purpose of this study is to determine the prevalence of CTS symptoms and the associated risk factors in Qassim Province, Kingdom of Saudi Arabia. Materials and methods A total of 314 participants were recruited from Qassim Province using an online survey, which included demographic questions and the Boston Carpal Tunnel Questionnaire (BCTQ)...
November 2023: Curēus
https://read.qxmd.com/read/38020668/case-report-ultrasound-guided-needle-knife-technique-for-carpal-ligament-release-in-carpal-tunnel-syndrome-treatment
#36
Jianjun Sun, Xiaodi Zou, Qinyun Fu, Jianhua Wu, Shuaishuai Yuan, Ahmad Alhaskawi, Yanzhao Dong, Haiying Zhou, Sahar Ahmed Abdalbary, Hui Lu
Carpal tunnel syndrome (CTS) is a common peripheral neuropathy of the hand, mainly manifesting as sensory disturbances, motor dysfunctions, and pain in the fingers and hand. The pathogenesis of the disease is associated with fibrosis of the transverse carpal ligament in the carpal tunnel, which compresses median nerve. In our case, we demonstrate an ultrasound-guided needle knife technique to treat CTS. We guided the patient to a supine position on the examination table. The skin of the wrist area was sterilized for the procedure...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37997617/sudden-unilateral-visual-loss-due-to-an-onodi-cell-mucocele
#37
JOURNAL ARTICLE
Yong Jun Yoo, Gyu Tae Kim, Marn Joon Park
In a patient whose sudden vision loss is suspected on the side of a previously operated sphenoid or ethmoid sinus, an ischemic insult to the optic nerve may occur due to a compressing mucocele, especially when there is bony dehiscence of the orbital apex. We report a case of a 41-year-old healthy male patient who had a history of previous sinus surgery, and visited the emergency department for an abrupt left ocular pain following visual loss of the affected eye. The patient's left eye's best corrected visual acuity (BCVA) was hand motions with a reduced light reflex...
November 24, 2023: Ear, Nose, & Throat Journal
https://read.qxmd.com/read/37974364/sars-cov-2-parainfectious-optic-neuropathy-3-case-reports-and-a-review-of-the-literature
#38
REVIEW
Jeffrey A Gluckstein, Bart K Chwalisz, Aubrey L Gilbert, Marc A Bouffard
BACKGROUND: Parainfectious optic neuritis is an inflammatory reaction that occurs shortly after an infection without direct invasion by a pathogen. The clinical profile depends on the infectious organism. Cases of SARS-CoV-2 parainfectious optic neuritis have been reported in the literature, but there are no reviews that have applied strict inclusion criteria to more definitively establish the clinical profile associated with SARS-CoV-2. METHODS: We present 3 new cases of SARS-CoV-2 parainfectious optic neuritis...
December 1, 2023: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://read.qxmd.com/read/37956419/blood-pressure-cuff-induced-radial-nerve-palsy-following-minimally-invasive-lateral-microdiscectomy-illustrative-case
#39
JOURNAL ARTICLE
Ziad Rifi, Jasmine A Thum, Margaret S Sten, Timothy J Florence, Michael J Dorsi
BACKGROUND: The authors describe a rare case of transient postoperative wrist and finger drop following a prone position minimally invasive surgery (MIS) lateral microdiscectomy. OBSERVATIONS: Hand and wrist drop is an unusual complication following spine surgery, especially in prone positioning. The authors' multidisciplinary team assessed a patient with this complication following MIS lateral microdiscectomy. The broad differential diagnosis included radial nerve palsy, C7 radiculopathy, stroke, and spinal cord injury...
November 13, 2023: J Neurosurg Case Lessons
https://read.qxmd.com/read/37942104/endoscopic-resection-of-ulnar-bursa-of-the-palm-2-ulnar-portals-technique
#40
JOURNAL ARTICLE
Tun Hing Lui, Odin Tymon Leung
Ulnar bursa of the hand invaginates the flexor digitorum superficialis and flexor digitorum profundus tendons of the little, ring, long, and index fingers. Distension of this bursa can have an inflammatory or infective cause. It can also originate from pathology of another site (e.g., degenerative wrist joint). Because of the tough overlying palmar aponeurosis, distended ulnar bursa can have swelling at a remote site. The distended ulnar bursa can also have compressive neuropathy to the ulnar nerve and median nerve...
October 2023: Arthroscopy Techniques
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