COL4A2-Related Disorder Presenting in Adulthood With Rhabdomyolysis.

The alpha 1 and 2 chains of type IV collagen, encoded by the COL4A1 (MIM 120130) and COL4A2 (MIM 120090) respectively, play essential roles in the vascular basement membranes. Pathogenic variants in COL4A1/ COL4A2 are associated with autosomal dominant cerebral angiopathies. The clinical manifestations of COL4A1/COL4A2-related disorders include: aneurysms, intracerebral hemorrhage, polymicrogyria, porencephaly, heterotopia, periventricular leukomalacia, epilepsy, and neurodevelopmental disorders.

Electrodiagnostic Testing for Carpal Tunnel Syndrome When Routine Median Sensory and Thenar Motor Responses Are Absent.

Purpose: The cardinal symptoms of carpal tunnel syndrome (CTS) include pain in the affected hand(s). The median/second lumbrical nerve (Med2ndL) seems relatively preserved in severe CTS, with previous small studies suggesting its value in electromyogram to localize a median neuropathy to the wrist when both initial routine sensory and thenar motor responses are absent.

Methods: This is a retrospective analysis of 208 hands in 183 patients with electrophysiologically markedly severe CTS (absent routine sensory and thenar motor median responses) who underwent stimulation of both the Med2ndL and ulnar/second dorsal interosseous (Uln2ndDIn) motor nerves.

AANEM - IFCN glossary of terms in neuromuscular electrodiagnostic medicine and ultrasound.

Modern neuromuscular electrodiagnosis (EDX) and neuromuscular ultrasound (NMUS) require a universal language for effective communication in clinical practice and research and, in particular, for teaching young colleagues. Therefore, the AANEM and the IFCN have decided to publish a joint glossary as they feel the need for an updated terminology to support educational activities in neuromuscular EDX and NMUS in all parts of the world. In addition NMUS has been rapidly progressing over the last years and is now widely used in the diagnosis of disorders of nerve and muscle in conjunction with EDX.

AANEM - IFCN Glossary of Terms in Neuromuscular Electrodiagnostic Medicine and Ultrasound.

Modern neuromuscular electrodiagnosis (EDX) and neuromuscular ultrasound (NMUS) require a universal language for effective communication in clinical practice and research and, in particular, for teaching young colleagues. Therefore, the AANEM and the IFCN have decided to publish a joint glossary as they feel the need for an updated terminology to support educational activities in neuromuscular EDX and NMUS in all parts of the world. In addition NMUS has been rapidly progressing over the last years and is now widely used in the diagnosis of disorders of nerve and muscle in conjunction with EDX.

Novel biallelic variants in associated with mitochondrial myopathy.

Mitochondrial disorders are caused by nuclear and mitochondrial pathogenic variants leading to defects in mitochondrial function and cellular respiration. Recently, the nuclear-encoded mitochondrial fusion gene (Misato 1) has been implicated in mitochondrial myopathy and ataxia. Here we report on a 30-yr-old man presenting with a maternally inherited NM_018116.

A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.

Exome sequencing is being used increasingly to evaluate patients with intellectual disability. YY1 is a ubiquitously distributed transcription factor belonging to the GLIKruppel class of zinc finger proteins recently recognized as the causative gene in 23 patients for the Gabriele-de Vries syndrome. We report a new case with similar features and a novel variant in YY1, in a region of the gene, which has not previously been reported.

Electrophysiology of Cranial Nerve Testing: Spinal Accessory and Hypoglossal Nerves.

Multiple techniques have been developed for the electrodiagnostic evaluation of cranial nerves XI and XII. Each of these carries both benefits and limitations, with more techniques and data being available in the literature for spinal accessory than hypoglossal nerve evaluation. Spinal accessory and hypoglossal neuropathy are relatively uncommon cranial mononeuropathies that may be evaluated in the outpatient electrodiagnostic laboratory setting.

Complete dislocation of the ulnar nerve at the elbow: a protective effect against neuropathy?

Introduction: Recurrent complete ulnar nerve dislocation has been perceived as a risk factor for development of ulnar neuropathy at the elbow (UNE). However, the role of dislocation in the pathogenesis of UNE remains uncertain.

Methods: We studied 133 patients with complete ulnar nerve dislocation to determine whether this condition is a risk factor for UNE.

Hypoglossal nerve palsy: 245 cases.

Introduction: Apart from a case series of 100 subjects in 1996 and several small cohorts, there have been no large retrospective series of cranial nerve XII (CN XII) palsy.

Methods: From 1984 to 2014, 245 cases of CN XII palsy were identified via retrospective chart review using historical and exam findings that confirmed the diagnosis. In addition to clinical characteristics, univariate and multivariate models were investigated to predict neoplastic CN XII palsy.

Focal and entrapment neuropathies.

Of the many patterns of peripheral nerve disorders in diabetes mellitus (DM), isolated clinical involvement of single nerves, though less common than distal symmetric polyneuropathy and perhaps polyradiculoneuropathy, constitute an important collection of characteristic syndromes. These fall into four anatomical regions of the body: cranial, upper limb, truncal, and lower limb territories. Each of these groups of mononeuropathies has its own ensemble of epidemiologic patterns, clinical presentations, laboratory and radiologic findings, differential diagnosis, management principles and prognosis.

Acute hypoxic hypoxia and isocapnic hypoxia effects on oculometric features.

Introduction: Visual performance impairment after hypoxia is well recognized in military and civilian aviation. The aims of this study were: 1) to assess oculometric features such as blink metrics, pupillary dynamics, fixations, and saccades as cognitive indicators of early signs of hypoxia; and 2) to analyze the impact of different hypoxic conditions ["hypoxic hypoxia" (HH) and "isocapnic hypoxia" (IH)] on specified oculometrics during mental workloads.

Methods: Oculometric data were collected on 25 subjects under 3 conditions: normoxia, HH (8% O2 + balance N2), and IH (7% O2 + 5% CO2 + balance N2).

Quality improvement in neurology: Distal symmetric polyneuropathy quality measures.

Peripheral neuropathy is a common neurologic disorder, affecting 2% to 8% of the population in population-based studies with confirmation by neurologist examination. These prevalence numbers are remarkably stable across developed countries. In 1999, 8.

Early detection of hypoxia-lnduced cognitive impairment using the King-Devick test.

Introduction: Hypoxic incapacitation continues to be a significant threat to safety and operations at high altitude. Noninvasive neurocognitive performance testing is desirable to identify presymptomatic cognitive impairment, affording operators at altitude a tool to quantify their performance and safety.

Methods: There were 25 subjects enrolled in this study.

Surgeon fatigue and postural stability: is robotic better than laparoscopic surgery?

Objective: To compare muscular fatigue and postural stability of surgeons before and after laparoscopic and robotic surgery.

Subjects And Methods: The design of this study is Class II. A consecutive cohort of patients presenting at an academic tertiary-care center for scheduled gynecologic surgery was used.

Muscle categorization using PDF estimation and Naive Bayes classification.

The structure of motor unit potentials (MUPs) and their times of occurrence provide information about the motor units (MUs) that created them. As such, electromyographic (EMG) data can be used to categorize muscles as normal or suffering from a neuromuscular disease. Using pattern discovery (PD) allows clinicians to understand the rationale underlying a certain muscle characterization; i.

Oculo-vestibular recoupling using galvanic vestibular stimulation to mitigate simulator sickness.

Introduction: Despite improvement in the computational capabilities of visual displays in flight simulators, intersensory visual-vestibular conflict remains the leading cause of simulator sickness (SS). By using galvanic vestibular stimulation (GVS), the vestibular system can be synchronized with a moving visual field in order to lessen the mismatch of sensory inputs thought to result in SS.

Methods: A multisite electrode array was used to deliver combinations of GVS in 21 normal subjects.

The effect of galvanic vestibular stimulation on distortion product otoacoustic emissions.

Galvanic stimulation has long been used as a nonmechanical means of activating the vestibular apparatus through direct action on the vestibular nerve endings. This stimulation has been reported to be safe, but no studies have examined the potential changes in the corresponding cochlear receptors. The aim of the present study was to evaluate the effect of galvanic vestibular stimulation (GVS) on distortion product otoacoustic emissions (DPOAEs).

Muscle restricted vasculitis causing dropped head syndrome: a case report and review of the literature.

A 52-year-old man presented with a severe head drop and proximal extremity weakness. Magnetic resonance imaging of the cervical spine showed T2 hyperintensity in cervical paraspinal muscles. Electrodiagnostic studies revealed an axial myopathy isolated to paraspinal muscles.

Skin biopsy for diagnosis of small fiber neuropathy: a critically appraised topic.

Background: Patients with lower extremity sensory symptoms and pain but without clinical or standard neurophysiological examination abnormalities may have a small fiber neuropathy. Skin biopsy with intraepidermal nerve fiber density (IENFD) assessment has been promoted as a diagnostic tool for such patients.

Objectives: To evaluate the diagnostic utility of skin biopsy with IENFD in patients with suspected small fiber neuropathy.

Impact of a computerized physician order-entry system.

Background: The Institute of Medicine has urged the adoption of electronic prescribing systems in all health-care organizations by 2010. Accordingly, computerized physician order entry (CPOE) warrants detailed evaluation. Mixed results have been reported about the benefit of this system.

Brachial plexopathy associated with Q fever: case report and review of the literature.

Neurologic manifestations of Q fever are predominantly central. We report the case of a 35-year-old man with recurrent fever and motor and sensory deficits in the right C5, C6 territories. Electrophysiological findings were consistent with a right upper-trunk brachial plexopathy or with suprascapular and axillary neuropathies.