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https://read.qxmd.com/read/38197134/adaptive-long-read-sequencing-reveals-ggc-repeat-expansion-in-zfhx3-associated-with-spinocerebellar-ataxia-type-4
#21
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
#22
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
#23
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
#24
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
#25
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
#26
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
#27
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
#28
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
#29
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
#30
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
#31
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
#32
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
#33
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
#34
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
https://read.qxmd.com/read/37939073/assessing-the-vibration-perception-threshold-in-a-community-sample-of-adult-ghanaians
#35
JOURNAL ARTICLE
Francis Tanam Djankpa, Albert G B Amoah, Festus Komla Adzaku, Eric Aidoo, Isaac Boateng
BACKGROUND: The vibration perception threshold (VPT) helps evaluate human somatosensory function and diagnose peripheral neuropathy. To optimize its use as a primary neurologic tool, it is imperative to establish its typical values in healthy subjects and assess the factors affecting its variability in an individual to ensure consistency in its application. METHODS: Demographic data and a brief medical history were collected from 391 non-diabetic adults aged 30-80 at Kpone-on-Sea in Ghana...
2023: PloS One
https://read.qxmd.com/read/37931163/pain-related-vertex-evoked-potentials-comparison-of-surface-electrical-to-heat-stimulation
#36
JOURNAL ARTICLE
Roberto J Guiloff, Mario Campero, Gonzalo R Barraza, Rolf-Detlef Treede, Jose M Matamala, Jose L Castillo
INTRODUCTION: Demonstration of nociceptive fiber abnormality is important for diagnosing neuropathic pain and small fiber neuropathies. This is usually assessed by brief heat pulses using lasers, contact heat, or special electrodes. We hypothesized that pain-related evoked potentials to conventional surface electrical stimulation (PREPse) can index Aδ afferences despite tactile Aß fibers coactivation. PREPse may be more readily used clinically than contact heat evoked potentials (CHEPS)...
November 1, 2023: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://read.qxmd.com/read/37921132/acroparesthesias-an-overview
#37
JOURNAL ARTICLE
Maroua Slouma, Siwar Ben Dhia, Elhem Cheour, Imen Gharsallah
Acroparesthesia is a symptom characterized by a subjective sensation, such as numbness, tingling, prickling, and reduced sensation, affecting the extremities (fingers and toes). Despite its frequency, data regarding its diagnostic approach and management are scarce. The etiological diagnosis of acroparesthesia is sometimes challenging since it can be due to abnormality anywhere along the sensory pathway from the peripheral nervous system to the cerebral cortex. Acroparesthesia can reveal several diseases. It can be associated with rheumatic complaints such as arthritis or myalgia...
October 27, 2023: Current Rheumatology Reviews
https://read.qxmd.com/read/37906182/tunable-hydrogel-electronics-for-diagnosis-of-peripheral-neuropathy
#38
JOURNAL ARTICLE
Ganguang Yang, Yijia Hu, Wei Guo, Wei Lei, Wei Liu, Guojun Guo, ChaoFan Geng, Yutian Liu, Hao Wu
Peripheral neuropathy characterized by rapidly increasing numbers of patients is commonly diagnosed via analyzing electromyography signals obtained from stimulation-recording devices. However, existing commercial electrodes have difficulty in implementing conformal contact with skin and gentle detachment, dramatically impairing stimulation/recording performances. Here, we develop on-skin patches with polyaspartic acid-modified dopamine/ethyl-based ionic liquid hydrogel (PDEH) as stimulation/recording devices to capture electromyography signals for the diagnosis of peripheral neuropathy...
October 31, 2023: Advanced Materials
https://read.qxmd.com/read/37899550/modification-of-the-zancolli-lasso-procedure-for-simultaneous-correction-of-wartenberg-s-sign
#39
JOURNAL ARTICLE
Brynn A Hathaway, Samantha J Burch, Chloe C Krasnoff, Matthew R Zeiderman, Joel S Solomon
Ulnar nerve injury initiates an imbalance between the intrinsic muscles and extrinsic extensors of the ring and small fingers, which leads to the characteristic hyperextension of the metacarpophalangeal (MP) joints and flexion of the proximal interphalangeal joints of these 2 digits-commonly referred to as the ulnar claw hand. In addition to these changes in the static posture of the hand, ulnar nerve palsy severely impairs grasp due to deficient active MP joint flexion. In most cases, motor balance can be restored by preventing MP joint hyperextension and augmenting MP joint flexion using the Zancolli lasso procedure (ZLP)...
October 26, 2023: Techniques in Hand & Upper Extremity Surgery
https://read.qxmd.com/read/37858501/the-hand-diagram-a-novel-outcome-measure-following-supercharged-end-to-side-anterior-interosseous-nerve-to-ulnar-nerve-transfer-in-severe-compressive-ulnar-neuropathy
#40
JOURNAL ARTICLE
Sydney Knight, Thomas A Miller, Amanda McIntyre, Juliana Larocerie-Salgado, Douglas C Ross
BACKGROUND: With advances in the surgical management for severe ulnar neuropathy with the introduction of the super charged-end-to-side (SETS) anterior interosseous nerve (AIN) to ulnar nerve transfer, a simple and reliable outcome measure is required. There is currently not "one" standardized outcome measure used to represent and compare results. PURPOSE: To present the abduction hand diagram as a "novel", reproducible, and simple outcome measure for patients with severe ulnar neuropathy...
October 17, 2023: Journal of Hand Therapy: Official Journal of the American Society of Hand Therapists
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