Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family.

Gorham-Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a somatic mutation in . However, in the present study, we encountered a case of GSD from a consanguineous family member.

Locking of the Distal Radioulnar Joint Caused by Dorsal Tear of the Triangular Fibrocartilage Complex: A Case Report.

Case: We encountered a case of locking of the distal radioulnar joint after a traumatic injury that restricted the supination and pronation of the wrist. The locking was released surgically with a good 2-year outcome. We found a tear between the dorsal aspect of the joint capsule and the triangular fibrocartilage complex (TFCC).

Evaluation of neural activity by magnetospinography with 3D sensors.

Objective: Magnetospinography (MSG) has been developed for clinical application and is expected to be a novel neurophysiological examination. Here, we used an MSG system with sensors positioned in three orthogonal directions to record lumbar canal evoked magnetic fields (LCEFs) in response to peripheral nerve stimulation and to evaluate methods for localizing spinal cord lesions.

Methods: LCEFs from the lumbar area of seven rabbits were recorded by the MSG system in response to electrical stimulation of a sciatic nerve.

Ulnar neuropathy at the elbow in 413 Japanese patients: An assessment of pathological elbow lesions and neurological severity.

Background: Various pathological elbow lesions are often complicated with ulnar neuropathy at the elbow (UNE), although the precise pathology, incidence, and clinical and neurological features of these lesions have not been identified. We therefore investigated elbow pathology and neurological severity in Japanese patients with UNE.

Methods: The medical records of 457 Japanese UNE patients who were surgically treated among 6 hospitals were retrospectively examined.

Magnetospinography visualizes electrophysiological activity in the cervical spinal cord.

Diagnosis of nervous system disease is greatly aided by functional assessments and imaging techniques that localize neural activity abnormalities. Electrophysiological methods are helpful but often insufficient to locate neural lesions precisely. One proposed noninvasive alternative is magnetoneurography (MNG); we have developed MNG of the spinal cord (magnetospinography, MSG).

Efficacy of biphasic transcranial electric stimulation in intraoperative motor evoked potential monitoring for cervical compression myelopathy.

Study Design: Retrospective analysis of prospectively collected data from consecutive patients undergoing 2 methods of transcranial electrical motor evoked potential (TCE-MEP) monitoring during cervical spine surgery.

Objective: To investigate the efficacy of biphasic transcranial electric stimulation, the deviation rate, amplitude of TCE-MEPs, complications, and sensitivity and specificity of TCE-MEP monitoring were compared between the biphasic and conventional monophasic stimulation methods.

Summary Of Background Data: With biphasic stimulation, unlike monophasic stimulation, measurement time can be reduced considerably because a single stimulation elicits bilateral responses almost simultaneously.

Warning thresholds on the basis of origin of amplitude changes in transcranial electrical motor-evoked potential monitoring for cervical compression myelopathy.

Study Design: A retrospective analysis of prospectively collected data from consecutive patients undergoing transcranial electrical motor-evoked potential (TCE-MEP: compound muscle action potentials) monitoring during cervical spine surgery. OBJECTIVE.: To divide the warning threshold of TCE-MEP amplitude changes on the basis of origin into the spinal tract and spinal segments and decide warning thresholds for each.

Conductive neuromagnetic fields in the lumbar spinal canal.

Objective: To measure neuromagnetic evoked fields in the lumbar spinal canal.

Methods: Using a newly developed superconducting quantum interference device (SQUID) fluxmeter, neuromagnetic fields of 5 healthy male volunteers were measured at the surface of the lower back after stimulation of the tibial nerves at the ankles. For validation, we inserted a catheter-type electrode percutaneously in the lumbar epidural space in 2 of the subjects and measured cauda equina action potentials after tibial nerve stimulation.

Diagnosis of incomplete conduction block of spinal cord from skin surface using spinal cord evoked magnetic fields.

Background: We previously reported the usefulness of neuromagnetic recordings for the diagnosis of disorders in peripheral nerves or the spinal cord. However, there have been no reports on incomplete conduction block of the spinal cord, which is clinically common in conditions such as cervical myelopathy. Here, we estimated the usefulness of measuring spinal cord evoked magnetic fields for evaluating incomplete conduction block.

Functional imaging of spinal cord electrical activity from its evoked magnetic field.

This paper investigates dynamic source imaging of the spinal cord electrophysiological activity from its evoked magnetic field by applying the spatial filter version of standardized low-resolution brain electromagnetic tomography (sLORETA). Our computer simulation shows that the sLORETA-based spatial filter can reconstruct the four current sources typically associated with the elicitation of the spinal cord evoked magnetic field (SCEF). The results from animal experiments show that significant changes in the latency and intensity of the reconstructed volume current arise near the location of the artificial incomplete conduction block.