Nerve conduction study

BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA, OMIM #256800), also known as hereditary sensory and autonomic neuropathy type Ⅳ (HSAN-IV), is a rare autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis, insensitivity to noxious stimuli, self-mutilating behavior and intellectual disability. CIPA can be caused by the variants in NTRK1 gene, which encodes a high-affinity tyrosine kinase receptor for nerve growth factor. To ascertain the hereditary cause of a patient with CIPA accompanied by the additional symptoms of mild growth retardation, prone to fracture, underdeveloped nails of fingers and toes, irregular tooth alignment, enamel hypoplasia, postoperative wound healing difficulty, hand and limb deformity, and dislocation of hip joint, whole exome sequencing was used and revealed a compound heterozygous variant in NTRK1 ...

BACKGROUND: Brachial plexus injury is recognized as one of the most severe clinical challenges due to the complex anatomical configuration of the brachial plexus and its propensity for variation, which complicates safe clinical interventions. This study aimed to ascertain the prevalence and characterize the types of brachial plexus variations, and to elucidate their clinical implications. MATERIALS AND METHODS: We conducted meticulous dissections of 60 formalin-fixed cadavers' upper arm, axilla and lower neck to reveal and assess the roots, trunks, divisions, cords, and branches of the brachial plexus...

BACKGROUND: The influence of social determinants of health (SDH) on postoperative complications has been investigated in several studies, although correlation with Achilles tendon rupture (ATR) repair remains uninvestigated. SDH encompasses several factors, including insurance status and area-based measurements, including the Area Deprivation Index (ADI) and Social Vulnerability Index (SVI), which ranks neighborhoods by social disadvantage. This study investigated the correlation between patient demographics, SDH, and complications following ATR repair...

Understanding the association between dipstick-detected proteinuria and oculomotor cranial nerve palsy (CNP) could have significant implications for understanding the mechanism of CNP development and for developing preventive strategies against CNP development in patients with proteinuria. This study aimed to determine the relationship between dipstick-determined proteinuria and ocular motor CNP using National Sample Cohort (NSC) database from Korea's National Health Insurance Service (NHIS). A nationwide population-based cohort study was conducted using data from the NSC database of Korea's NHIS...

A 44-year-old man was admitted due to a fever. He developed unconsciousness and respiratory failure, necessitating mechanical ventilation. After the administration of methylprednisolone and intravenous immunoglobulin for suspected autoimmune encephalitis, his consciousness and respiratory state improved. However, he exhibited pronounced tetraparalysis and impaired sensation below the neck. A spinal MRI revealed swelling of the entire spinal cord, indicating myelitis. Deep tendon reflexes were diminished in all extremities, and a nerve conduction study confirmed motor-dominant axonal polyneuropathy...

BACKGROUND: Insomnia is a prevalent health concern in the general population associated with a range of adverse health effects. New, effective, safe and low-cost treatments, suitable for long-term use, are urgently required. Previous studies have shown the potential of electrical vestibular nerve stimulation (VeNS) in improving insomnia symptoms, however only one sham-controlled trial has been conducted on people with chronic insomnia. OBJECTIVES: /Hypothesis: Repeated VeNS delivered by the Modius Sleep device prior to sleep onset will show superior improvement in Insomnia Severity Index (ISI) scores over a 4-week period compared to sham stimulation...

BACKGROUND: Post-mastectomy pain Syndrome (PMPS), characterized by chronic neuropathic pain stemming from intercostobrachial nerve lesions, presents a formidable clinical challenge. With the incidence of breast cancer surging, effective interventions for PMPS are urgently needed. To address this, we conducted this double-blind, placebo-controlled, randomized clinical trial to study the efficacy of repetitive Transcranial Magnetic Stimulation (rTMS) therapy over the motor cortex on pain, quality of life and thermal sensitivity in PMPS patients...

OBJECTIVE: We aimed to conduct a systematic review and meta-analysis assessing the antiinflammatory effects of various VNS methods while exploring multiple antiinflammatory pathways. MATERIALS AND METHODS: We included clinical trials that used electrical stimulation of the vagus nerve and assessed inflammatory markers up to October 2022. We excluded studies lacking control groups, those with combined interventions, or abstracts without full text. We adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and the Cochrane Handbook for Systematic Reviews...

Background and Objectives : This review systematically evaluates the potential of electrical neuromodulation techniques-vagus nerve stimulation (VNS), sacral nerve stimulation (SNS), and tibial nerve stimulation (TNS)-as alternative treatments for inflammatory bowel disease (IBD), including ulcerative colitis (UC) and Crohn's Disease (CD). It aims to synthesize current evidence on the efficacy and safety of these modalities, addressing the significant burden of IBD on patient quality of life and the limitations of existing pharmacological therapies...

Background and Objectives : A magnetic resonance imaging (MRI) scan is part of the diagnostic protocol in pituitary adenoma patients. The goal of the present study is to present and analyse the MRI appearances of the sphenoid sinus (SS) in patients with non-functioning pituitary adenoma (NFPA). Materials and Methods : This is a retrospective case-control study conducted between January 2015 and December 2023 in a tertiary referral hospital. Forty NFPA patients were included in the study group, while the control group consisted of 30 age- and gender-matched cases...

Intraoperative neurophysiological monitoring (IONM) is a crucial advancement in neurosurgery, enhancing procedural safety and precision. This technique involves continuous real-time assessment of neurophysiological signals, aiding surgeons in timely interventions to protect neural structures. In addition to inherent limitations, IONM necessitates a detailed anesthetic plan for accurate signal recording. Given the growing importance of IONM in neurosurgery, we conducted a narrative review including the most relevant studies about the modalities and their application in different fields of neurosurgery...

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneous and complex genetic underpinnings. Our previous microarray gene expression profiling identified significantly different neuregulin-2 gene (NRG2) expression between ASD patients and controls. Thus, we aimed to clarify whether NRG2 is a candidate gene associated with ASD. The study consisted of two stages. First, we used real-time quantitative PCR in 20 ASDs and 20 controls to confirm the microarray gene expression profiling results...

The evolutionary conserved Notch signaling pathway functions as a mediator of direct cell-cell communication between neighboring cells during development. Notch plays a crucial role in various fundamental biological processes in a wide range of tissues. Accordingly, the aberrant signaling of this pathway underlies multiple genetic pathologies such as developmental syndromes, congenital disorders, neurodegenerative diseases, and cancer. Over the last two decades, significant data have shown that the Notch signaling pathway displays a significant function in the mature brains of vertebrates and invertebrates beyond neuronal development and specification during embryonic development...

BACKGROUND: To investigate the peripheral nervous system involvement in S  sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central nervous system. METHODS: The clinical presentation of patients with genetically confirmed sialidosis was recorded. Neurophysiological studies, including nerve conduction studies (NCSs), F-wave studies, and needle electromyography (EMG), were performed on these patients...

BACKGROUND: Vertebral hemangiomas (VHs) are the most common benign tumors of the spinal column and are often encountered incidentally during routine spinal imaging. METHODS: A retrospective review of the inpatient and outpatient hospital records at our institution was performed for the diagnosis of VHs from January 2005 to September 2023. Search filters included "vertebral hemangioma," "back pain," "weakness," "radiculopathy," and "focal neurological deficits." Radiographic evaluation of these patients included plain X-rays, CT, and MRI...

PURPOSE: Segmenting ultrasound images is important for precise area and/or volume calculations, ensuring reliable diagnosis and effective treatment evaluation for diseases. Recently, many segmentation methods have been proposed and shown impressive performance. However, currently, there is no deeper understanding of how networks segment target regions or how they define the boundaries. In this paper, we present a new approach that analyzes ultrasound segmentation networks in terms of learned borders because border delimitation is challenging in ultrasound...

BACKGROUND: Ocular trauma is a significant cause of blindness and is often missed in polytrauma. No contemporary studies report eye injuries in the setting of severe trauma in the UK. We investigated ocular injury epidemiology and trends among patients suffering major trauma in England and Wales from 2004 to 2021. METHODS: We conducted a retrospective study utilising the Trauma Audit and Research Network (TARN) registry. Major trauma cases with concomitant eye injuries were included...

Neurodegenerative pathologies affecting the posterior segment of the eye, are characterized by being devastating and responsible for the majority of visual dysfunctions worldwide. These diseases are primarily degenerative, progressing chronically, and can inflict gradual harm to the optic nerve, retinal ganglion cells (RGC), photoreceptors, and other retinal cells. This retinal damage leads to a progressive loss of vision, marking these conditions as a significant health concern worldwide. The intravitreal administration of the phytochemical Carvacrol (CAR) is expected to demonstrate a neuroprotective and antiapoptotic effect on retinal cells, with a specific focus on RGC...

BACKGROUND: Coronectomy is an alternative procedure for removing mandibular third molars near the inferior alveolar nerve. Limited research exists on the effect of coronectomy on the postoperative quality of life (QoL). PURPOSE: This study compared postoperative QoL after coronectomy and complete surgical removal of mandibular third molars during the first postoperative week. STUDY DESIGN, SETTING, AND SAMPLE: This prospective cross-over study was conducted in the Oral and Maxillofacial Department of Amstelland Hospital, Amstelveen, The Netherlands...

BACKGROUND: Gold standard for determining intracranial pressure (ICP), intraventricular catheter, is invasive with associated risks. Non-invasive investigations like magnetic resonance imaging and ultrasonography have demonstrated correlation between optic nerve sheath diameter (ONSD) and raised ICP. However, computed tomography (CT) is accessible and less operator-dependent. Literature shows variable results regarding correlations between ICP and ONSD on CT. The study aimed to investigate correlations between raised ICP and ONSD, eyeball transverse diameter (ETD), and ONSD/ETD ratios on CT scan(s) of severe head injuries...