Neurodiagnostic

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

We present a unique case of a 44-year-old woman who presented at 29 weeks' gestation with proximal limb pain and elevated creatine kinase. This occurred in the background of premature cataracts, atrial fibrillation and abnormal liver function. Clinical, pathological and neurodiagnostic findings supported a diagnosis of myotonic dystrophy, confirmed by genetic testing which revealed dystrophia myotonica protein kinase gene expansion. Muscle biopsy found both recent necrotising and chronic myopathic processes...

Traumatic brain injury (TBI) affects millions of people of all ages around the globe. TBI is notoriously hard to diagnose at the point of care, resulting in incorrect patient management, avoidable death and disability, long-term neurodegenerative complications, and increased costs. It is vital to develop timely, alternative diagnostics for TBI to assist triage and clinical decision-making, complementary to current techniques such as neuroimaging and cognitive assessment. These could deliver rapid, quantitative TBI detection, by obtaining information on biochemical changes from patient's biofluids...

BACKGROUND: Lumbosacral radiculoplexus neuropathy, also known as amyotrophy, is an uncommon monophasic disorder characterized by inflammation of the lumbosacral nerve roots and plexuses. Lumbosacral radiculoplexus neuropathy is usually associated with diabetes mellitus, is typically painful at presentation, and often associated with long-term residual neurologic deficits. We report a case of painless, nondiabetic lumbosacral radiculoplexus neuropathy in a young Chinese woman, who made a full recovery after treatment with intravenous immunoglobulin, adding an atypical case to the scarce literature on lumbosacral radiculoplexus neuropathy...

Traumatic brain injury (TBI), a major cause of morbidity and mortality worldwide, is hard to diagnose at the point of care with patients often exhibiting no clinical symptoms. There is an urgent need for rapid point-of-care diagnostics to enable timely intervention. We have developed a technology for rapid acquisition of molecular fingerprints of TBI biochemistry to safely measure proxies for cerebral injury through the eye, providing a path toward noninvasive point-of-care neurodiagnostics using simultaneous Raman spectroscopy and fundus imaging of the neuroretina...

BACKGROUND: Variegate porphyria is caused by mutations in the PPOX gene; it usually presents in adolescents and adults as an autosomal dominant condition, with cutaneous features or acute peripheral and/or central nervous system crises. A rarer variant, homozygous variegate porphyria, presents in childhood with cutaneous manifestations as well as neurophenotypes. This study sought to further characterize the homozygous PPOX-related neuroendocrine phenotype. METHODS: This study is a retrospective review of the patients' charts, including their clinical evaluation and molecular genetics, neurodiagnostic, and neuroradiological investigations...

BACKGROUND: The current diagnostic criteria for amyotrophic lateral sclerosis (ALS) may remain unsatisfactory for months or years in the early disease. Pulmonary assessment has never been considered useful in the early diagnosis of ALS, and studies of pulmonary function in this patient category are lacking. OBJECTIVES: The objective of this study was to assess the pulmonary function in subjects with unspecific symptoms of ALS in whom an ALS diagnosis cannot be reached based on the current available guidelines...

Subclinical Rhythmic Electroencephalographic Discharges of Adults (SREDA) is a benign EEG variant characterized by sharply contoured rhythmic theta activity occurring bilaterally with maximum activity over the parietal or the posterior head region. These paroxysms are not associated with any objective or subjective clinical manifestations. SREDA, the rarest and last reported benign EEG pattern with no known clinical significance yet, is detailed in this case report. We provide the case of a gentleman with epilepsy who underwent vEEG recording in our lab...

OBJECTIVE: Research on the neuropsychological profile associated with pituitary adenoma (PA) in diverse populations is limited. Clinically, PAs are categorized by size (micro-vs-macro) and hormone secretion levels (functional/secreting-vs-nonfunctional/non-secreting [NFPA]). Macro-NFPA are associated with visual-spatial, memory, and executive functioning declines, likely due to mass effects. No previous reports of cognitive declines in micro-NFPA were found in the literature. We present a clinical case illustrating the application of an SRN model in a 75-year-old, Spanish-English bilingual male, with cognitive declines, diagnosed with micro-NFPA...

OBJECTIVE: The Rey-Osterrieth Complex Figure Test (RCFT) is a widely administered neuropsychological instrument. The clinical utility of using the RCFT to assist with interpretation of cognitive profiles has been well-documented; however, the utility of Spanish-language administrations is less well-known. One common adaptation for patients with lower educational attainment is the use of a simpler, semi-complex figure. These adaptations are notable for differences in administration (i...

OBJECTIVE: There is conflicting research on risk indicators relating to the diagnosis of early-onset Alzheimer's disease (EOAD). We assessed an individual with numerous factors that are associated with EOAD including the presence of two APOE e4 alleles, family history of EOAD, and positive biomarkers (i.e., Amyloid PET Scan; CSF). Longitudinal neuropsychological data reflect minimal cognitive decline through age 73, suggesting substantial mediating effects of cognitive reserve and neuroprotective measures: aerobic exercise, cognitive stimulation, and psychological health...

OBJECTIVE: The case is an 88-year-old, woman, formerly a successful surgeon for decades, with Wernicke's aphasia due to dominant insular stroke. Our evaluation explored her deficits in the context of the heterogeneous presentations of insular strokes and how speech rehabilitation has impacted her language abilities given her cognitive reserve prior to her stroke. METHOD: The patient sustained a left MCA embolic stroke in 2020. Neurodiagnostics revealed an infarct in the insula, dominant temporal, frontal, and parietal lobes...

BACKGROUND AND OBJECTIVES: Psychogenic nonepileptic seizures (PNES) are paroxysmal events that resemble epileptic seizures but have psychological underpinnings. Patients with PNES have high health care utilization. We hypothesize that appropriate care would lead to decreases in utilization. The aim of this study was to measure the impact of a multidisciplinary PNES clinic in reducing health care utilization (HCU) in youth with PNES referred to the clinic. METHODS: We reviewed the frequency of visits to the emergency department (ED), urgent care (UC), planned and unplanned hospitalizations, neurodiagnostic studies, and total charges associated with these encounters 12 months before and 12 months after initial referral to the clinic...

INTRODUCTION/AIMS: Exome sequencing (ES) has proven to be a valuable diagnostic tool for neuromuscular disorders, which often pose a diagnostic challenge. The aims of this study were to investigate the clinical outcomes associated with utilization of ES in the pediatric neuromuscular clinic and to determine if specific phenotypic features or abnormal neurodiagnostic tests were predictive of a diagnostic result. METHODS: This was a retrospective medical record review of 76 pediatric neuromuscular clinic patients who underwent ES...

No abstract text is available yet for this article.

No abstract text is available yet for this article.