Cognitive deficits and course of recovery in transient global amnesia: a systematic review.

OBJECTIVE: Published evidence suggests that cognitive impairment during a TGA (transient global amnesia) spell may not be confined to episodic memory. We undertook a systematic review to determine the pattern of cognitive deficits during a TGA episode. As a secondary objective, we aimed to delineate the course of cognitive recovery. METHODS: MEDLINE, EMBASE, CENTRAL, and Google scholar were systematically searched up to October 2023. Observational controlled studies including 10 or more TGA patients (Hodges and Warlow criteria) were retrieved. Data from case-control, cross-sectional, and cohort studies were reviewed and qualitatively synthesized. RESULTS: Literature search yielded 1302 articles. After the screening of titles and abstracts, 115 full texts were retrieved and 17 of them were included in the present systematic review. During the acute phase, spatiotemporal disorientation, dense anterograde and variable retrograde amnesia, semantic memory retrieval difficulties, and working memory deficits comprised the neuropsychological profile of patients with TGA. Visuospatial abilities, attention and psychomotor speed, semantic memory, confrontation naming, and other measures of executive function (apart from semantic fluency and working memory) were consistently found normal. In the course of recovery, after the resolution of repetitive questioning, the restoration of spatiotemporal orientation follows, working memory and semantic memory retrieval ensue, while episodic memory impairment persists for longer. Meticulous evaluations may reveal subtle residual memory (especially recognition) deficits even after 24 h. CONCLUSIONS: Μemory impairment, spatiotemporal disorientation, and working memory deficits constitute the pattern of cognitive impairment during a TGA spell. Residual memory deficits may persist even after 24 h.

Muscle ultrasound in myopathies.

PURPOSE OF REVIEW: This review highlights recent developments in the field of muscle ultrasound (MUS) for the diagnosis and follow up of muscle disorders. RECENT FINDINGS: The diagnostic screening capacity of quantitative grayscale analysis is still sufficient to assess children suspected of a neuromuscular disorder. A combination of visual and quantitative assessment is advised for optimal interpretation. MUS was more sensitive but less specific than MRI for detecting pathology in limb girdle dystrophies and inflammatory myopathies. New techniques such as shearwave elastography and artificial intelligence algorithms for automated image segmentation show promise but need further development for use in everyday practice.Muscle ultrasound has high correlations with clinical measures of function in skeletal and respiratory muscles and the orofacial region, in most of the myopathies and dystrophies studied. Over time, imaging changes precede changes in clinical status, making them attractive for biomarker use in trials. In Duchenne muscular dystrophy MUS was also responsive to the effects of steroid treatment. SUMMARY: Muscle ultrasound is a sensitive technique to diagnose and follow up of skeletal, facial and respiratory muscles in neuromuscular disorders. Its role is both complementary to and partially overlapping with that of MRI.

Dysphagia Assessments as Criteria in the 'Decision-Making Process' for Percutaneous Endoscopic Gastrostomy Placement in People with Amyotrophic Lateral Sclerosis: A Systematic Review.

To review the assessment methods of dysphagia as a criterion for the decision-making process for Percutaneous Endoscopic Gastrostomy (PEG) placement in patients with Amyotrophic Lateral Sclerosis (ALS). Systematic review. A search was conducted in three databases (EMBASE, CINAHL, PUBMED) in December 2022 and updated in July 2023. Two reviewers independently screened, selected, and extracted data. Study quality was appraised using the Joanna Briggs Institute Critical Appraisal Tools. Systematic review registration number in the International Prospective Register of Systematic Reviews (PROSPERO): CRD42022385461. The searches identified 240 records. The 10 eligible studies included 2 case reports, 4 retrospective studies, 3 prospective studies, and 1 cohort observational study. Study quality was low, with most studies having moderate to high risk of bias. Dysphagia is a common criterion for decision-making. Dysphagia assessment is usually in the form of either self-reports, objective instrumental assessments, or both. Dysphagia is a common criterion for the decision-making process, yet is missing in clinical guidelines. Establishing the optimal means of dysphagia assessment is important for timely decision-making procedures, so that life-threatening consequences of dysphagia are minimized.

Rituximab as a sole steroid-sparing agent in generalized myasthenia gravis: Long-term outcomes.

BACKGROUND: Rituximab, a B-cell depleting monoclonal antibody, represents an option for the treatment of refractory myasthenia gravis (MG). Its use is more established in muscle-specific tyrosine kinase positive (MuSK +) patients, while its role in managing acetylcholine receptor positive (AChR +), or double seronegative (DSN) patients, remains less clear. This study evaluates the long-term effectiveness and safety of rituximab in MG of various serotypes. METHODS: We conducted an open-label study of MG patients receiving rituximab. Adults with generalized refractory MG, either anti-AChR + or DSN, and anti-MuSK + , refractory or not, who had follow-up > 12 months were selected. Change in quantitative myasthenia gravis (QMG) score at last follow-up, compared with baseline was a primary outcome, as well as factors affecting response to treatment. Secondary outcomes included, long-term safety, the steroid-sparing effect and relapse rates post-rituximab. RESULTS: Thirty patients (16 anti-AChR + , 6 anti-MuSK + , 8 DSN) followed for a mean of 33.3 months were included. Mean scores pre-rituximab compared to last follow-up significantly decreased (p < 0.001), from 11 ± 4.1 to 4.3 ± 3.8, and from 1.9 to 0.3 regarding QMG and relapse rate per patient/year, respectively, while in 93.1% a daily steroid dose ≤ 10 mg was achieved. Antibody status was the only factor independently influencing several endpoints. Throughout the study period no crises or deaths occurred. CONCLUSION: The present study supports that rituximab is an effective and well tolerated treatment for refractory anti-AChR + and DSN MG patients, while anti-MuSK + remains the group experiencing the greater benefits.

The utility of diaphragm ultrasound thickening indices for assessing respiratory decompensation in amyotrophic lateral sclerosis.

INTRODUCTION/AIMS: Amyotrophic lateral sclerosis (ALS) leads to diaphragmatic weakness at some point during its course, which is a major cause of respiratory insufficiency. The aim of this study was to evaluate ultrasound-based measures for assessing the diaphragmatic competency and the need for ventilatory support. METHODS: Twenty-six subjects with ALS and 12 healthy controls were enrolled. All participants underwent B-mode diaphragm ultrasound (DUS). Diaphragm thickness and thickening indices were recorded. In the subjects with ALS, further assessments included functional scales and spirometry. We investigated the diagnostic accuracy of DUS thickening indices in predicting diaphragmatic dysfunction and the correlation between clinical, spirometric, and DUS data. RESULTS: Significant relationships were found between forced vital capacity and all diaphragmatic thickening indices. Similarly, all diaphragmatic thickening indices correlated with both Milano Torino staging and disease progression rate. Only thickening fraction (TFdi) correlated with score on the revised ALS Functional Rating Scale (r = 0.459, P = .024). TFdi had better accuracy in predicting diaphragmatic dysfunction (area under the curve [AUC] = 0.839, 95% confidence interval [CI] 0.643 to 0.953) and the need for initiation of noninvasive ventilation (NIV) (AUC = 0.989, 95% CI 0.847 to 1.000) compared with the other indices. A TFdi cut-off point of 0.50 was a sensitive threshold to consider NIV. DISCUSSION: DUS successfully identifies diaphragmatic dysfunction in ALS, being a valuable accessory modality for investigating respiratory symptoms. TFdi was found to be the most useful DUS index, which encourages further investigation.

Identical late motor responses in early Guillain-Barré syndrome: A-waves and repeater F-waves.

Electrodiagnostic (EDx) studies play a key role in the investigation of suspected Guillain-Barré syndrome (GBS), providing diagnostic and prognostic information. However, initial EDx findings may not fulfill the neurophysiological criteria for the disease. The aim of this study was to estimate the occurrence and characteristics of A-waves and repeaters F-waves (Freps), both late motor responses identical in latency and configuration, in early stages of GBS. We retrospectively analyzed the initial nerve conduction study (NCS) of 26 GBS patients performed within 10 days from symptom onset. The final subtype diagnosis was acute inflammatory demyelinating polyneuropathy (AIDP) in 16 patients (six met the criteria at the initial EDx study and 10 at follow-up) and acute motor axonal neuropathy (AMAN) in 10 patients (six initially). Identical late responses were commonly found in the majority of nerves (84%). A-waves were present in 59% and an increased frequency of Freps was calculated in 61% of the 105 studied nerves. A-waves morphology (single or complex) could not distinguish between AIDP and AMAN. Nerves with normal NCS had a significantly higher frequency of A-waves, either isolated or in combination with increased index total Freps, as compared to nerves with low compound muscle action potential (CMAP) amplitudes or conduction block. Our findings suggest that both late responses can be useful as early markers of conduction changes of various pathophysiology, being frequently present even prior to abnormalities of CMAP parameters.

Quantitative muscle ultrasound assessment using automatic thresholding methods in amyotrophic lateral sclerosis.

OBJECTIVE: To evaluate the usefulness of automatic thresholding methods for quantitative assessments of muscle echogenicity in amyotrophic lateral sclerosis (ALS) patients. METHODS: Thirty-one ALS patients and 31 matched healthy controls underwent ultrasound examination of the biceps brachii, rectus femoris and tibialis anterior muscles. Muscle echogenicity was evaluated using grayscale analysis and the 16 automatic thresholding methods of ImageJ program. The diagnostic value and correlations between ultrasound parameters and muscle strength were investigated. RESULTS: Mean grayscale values (GSV) and mean hyperechoic fractions of 8 out of the 16 automatic thresholding methods were significantly different between patients and controls in all 3 muscles (p < 0.05 for all). Four thresholding methods (Default, Li, Moments, Otsu) showed a significant correlation between hyperechoic fractions and muscle strength, and diagnostic accuracy comparable or superior to GSVs. Otsu method was the only technique that detected ultrasound changes in normal strength muscles of ALS patients. CONCLUSIONS: Our findings support the utility of automatic thresholding methods in muscle echogenicity studies as a supplementary ultrasound image analysis in ALS. SIGNIFICANCE: In an era of advances in developing neurophysiological diagnostic tools and biomarkers in ALS, muscle ultrasonography and echogenicity analysis using automatic thresholding methods could be effectively implemented in clinical research.

Effect of beam attenuation on muscle ultrasound echogenicity measurement in muscular dystrophies.

PURPOSE: In advanced muscular dystrophies (AMD), quantification of muscle echo-intensity (EI) may be influenced by ultrasound beam attenuation, due to fibrosis and fatty infiltration of muscle tissue. Objective of the study was to compare EI measurements using grayscale analysis between a superficial and whole-muscle region of interest (ROI) in subjects with advanced and mild-to-moderate muscular dystrophy (MMD). METHODS: Thirty-two adult subjects diagnosed with a muscular dystrophy and twenty-five matched healthy controls underwent ultrasound assessment of the biceps brachii (BB), rectus femoris (RF) and tibialis anterior (TA) muscles. Based on Heckmatt grading scale of muscles, two disease groups, an AMD (Heckmatt grades 3 or 4) and a MMD (Heckmatt grade 2), were analyzed. Superficial ROI was set as one-fourth of the whole-muscle area, located immediately below the superficial fascia and always inside muscle boundaries. RESULTS: Muscle EI was significantly higher in the superficial compared to whole-muscle ROI, in all evaluated muscle groups of AMD subjects (BB, p = 0.004/RF, p = 0.027/TA, p = 0.002). EI values in superficial ROIs, for individual muscle analysis using z-scores, were more representative in assessments of muscle abnormality in advanced stages of the disease course (Heckmatt grades 3 and 4). In MMD and healthy muscles, no statistical difference was found in EI measurements between the two ROI types. CONCLUSIONS: In AMD, selection of superficial ROI is better representative of changes in muscle texture, although caution should be exercised when comparing ROIs of different sizes.

Man-in-a-barrel syndrome: a rare presentation of giant cell arteritis.

We present herein the case of a patient with brachial plexopathy, the first manifestation of giant cell arteritis (GCA). A 71-year-old woman presented with a subacute-onset weakness of her upper extremities; the patient had an initially good clinical response to steroid treatment. However, a few weeks after steroid discontinuation, she manifested fever and fatigue and increased serum markers consistent with a systemic inflammatory response. A PET-CT scan revealed an increased uptake in the subclavian arteries and a temporal biopsy was typical for GCA. Oral administration of high dosage steroids improved the patient's clinical symptoms and normalised her inflammatory serum markers.

Autoantibody profile in myasthenia gravis patients with a refractory phase.

INTRODUCTION/AIMS: A subgroup of myasthenia gravis (MG) patients fail to respond adequately to recommended treatments, a condition referred to as refractory MG. During the refractory phase, patients experience persistent debilitating symptoms with potential life-threatening events or inability to reduce immunosuppressant dosages and minimize long-term toxicities. METHODS: We conducted a retrospective, single-center study of 113 MG patients to investigate the autoantibody profile and clinical characteristics of refractory MG patients, compared with nonrefractory patients, based on predefined criteria. RESULTS: Fifteen patients (13.3%) were classified as refractory. Double-seronegative MG (DSNMG), without detectable nicotinic acetylcholine receptor (AChR) or muscle-specific tyrosine kinase (MuSK) antibodies, was identified in six refractory patients, significantly higher than those with nonrefractory MG (40% vs 16.3%; P = .031). None of the refractory patients had MuSK antibodies. Patients in the refractory group more frequently had an earlier disease onset, thymic pathology, and thymectomy (P ≤. 03 for all). DISCUSSION: In this study, patients with refractory MG were more likely than those with nonrefractory MG to be DSN; and refractory DSNMG patients had worse MGFA classes in their recent visit compared with anti-AChR positive refractory patients. Refractory DSNMG patients may represent a distinct group that requires more individualized and targeted treatment approaches.

Simultaneous Immune Attack to Multiple Roots and the Spinal Cord.

ABSTRACT: A patient with concurrent occurrence of polyradiculopathy and myelopathy is presented. Diagnostic investigation and clinical outcome supported the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy variant.

Teleneurology in a center for neuromuscular diseases during the COVID-19 pandemic.

OBJECTIVE: The coronavirus disease 2019 (COVID-19) pandemic has urged the adoption of telemedicine services as a measure of greater patients' safety. This study aims to investigate efficacy and feasibility of teleneurology care for patients with neuromuscular diseases (NMD). METHODS: All patient visits from 4th March 2020 to 27th March 2021, the period of COVID-19 lockdown requiring partial transition to tele-consultation, were reviewed. Demographic data and medical records during the implementation of the "hybrid model" of both remote and in-person visits during COVID-19 era were analyzed and compared to those of the pre-pandemic era. RESULTS: A total of 2179 tele-consultation contacts for 182 patients (mean age 46.4 years, 42.3% female) were conducted. Tele-consultation was primarily performed by telephone calls. During that period, 1745 telephone calls were conducted, resulting in a 4.5 mean increase/patient compared to 2019. There was a 15.1% decrease in first time in-person consultations compared to 2019. However, the mean number of monitoring visits per person during pandemic was no different from previous years. With the exception of 3 patients with advanced stage of amyotrophic lateral sclerosis, no other patients required an unscheduled appointment or hospitalization for unforeseen reasons related to tele-consultation restrictions. CONCLUSION: Monitoring of NMD patients could benefit from tele-provided multidisciplinary services. The experience gained during COVID-19 pandemic could be useful for further development of tele-medicine.

Ultrasound pattern of anterolateral leg muscles in facioscapulohumeral muscular dystrophy.

BACKGROUND/AIMS OF STUDY: To evaluate the degree of tibialis anterior (TA) and peroneus longus (PL) muscle involvement in facioscapulohumeral muscular dystrophy (FSHD) patients using ultrasound. METHODS: We performed qualitative and quantitative assessments of muscle echogenicity, using Heckmatt's rating scale and gray scale analysis, respectively, in eight patients (five males, mean age 36.9 ± 8.4 years) with genetically confirmed FSHD 1. RESULTS: Both methods demonstrated a distinct pattern of preferential TA involvement and PL sparing in all FSHD patients, irrespective of the degree of muscle involvement. More specifically, echogenicity was higher in TA compared to PL according to Heckmatt score in the patient group (TA 3.43 ± 0.49/PL 1.43 ± 0.49, p < .001). In the gray-scale histogram, ranging from 0 (black) to 255 (white), the mean measurements of TA were significantly increased in patients compared to healthy (71.60 ± 10.28 vs. 53.70 ± 10.05, p = .012) and significantly higher than PL measurements in the patient group, but not in healthy subjects (p-values .012 and .779, respectively). A strong correlation between TA hyperechogenicity and muscle weakness was demonstrated in patients with mild-to-moderate weakness, but not in patients with severe weakness (r = -.949 and r = .644, respectively). CONCLUSIONS: This study shows a consistent US pattern of proximal anterolateral leg muscle involvement in FSHD, in agreement with findings of MRI studies and suggests that anterolateral leg muscle US may be a practical, fast and low-cost alternative to MRI.

A novel task-specific dystonia type: Hemifacial spasm in a photographer.

A 67-year-old male photographer who used traditional cameras that necessitated monocular focusing developed intermittent blepharospasms, evident only during and shortly after the voluntary contraction of the left eyelids while using the camera, a form of a task-specific blepharospasm. The spasms gradually progressed to involve the entire hemiface resulting in a task-specific hemifacial spasm that eventually evolved into a persistent hemifacial spasm. Our case report highlights the fact that focal dystonia may also develop in the facial muscles following chronic and repetitive muscle contractions, such as those performed by an older photographer who used traditional cameras that necessitated monocular focusing. To our knowledge, hemifacial spasm has not yet been recognized as a form of focal, task-specific dystonia. Moreover, occupational, focal dystonia has not been described in photographers.

The optimum hand temperature to study nerve conduction in patients with carpal tunnel syndrome.

To define the skin temperature at which diseased nerves are better differentiated from the healthy. Motor and sensory conduction of median and ulnar nerve were evaluated in 52 patients with carpal tunnel syndrome (CTS) and 52 matched healthy controls at environmental skin temperature (mean 32-33 °C), after warming by an average of 2 °C and cooling to approximately 6 °C below baseline. In the hot condition, group comparisons for the median nerve showed a similar rate of distal motor latency (DML) reduction and sensory conduction velocity (SCV) increase in CTS and controls. With cold, the rate of change was smaller for the patients: DML mean increase was 5% /°C (7% for controls) and SCV mean decrease was 2.5%/°C (3.2% for controls). Individual patients' analysis revealed fewer abnormal median DML and SCV values at hot or at cold, compared to environmental temperature. It is concluded that conduction adjustments for low hand temperatures based on healthy measurements resulted in overcorrection and therefore underdiagnosis of CTS. Alternatively, at excessive hand warming the convergence of patient and healthy measurements also lead to underdiagnosis. Maintenance of skin temperature at 32-33 °C, corresponding to normal body temperature, is the optimum approach and should always be employed in clinical practice.