GJB1 Mutation-A Disease Spectrum: Report of Case Series

Discussion:GJB1 mutations form a clinical spectrum, including most patients with peripheral nerve involvement, those with both peripheral neuropathy and CNS involvement, and patients with CNS involvement only.
Source: Frontiers in Neurology - Category: Neurology Source Type: research

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Conclusions. The nerve roots of CIDP, Charcot-Marie-Tooth disease type-1, and polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome were difficult to distinguish by MRN. Atypical CIDP patients had less nerve root injury compared with typical CIDP patients. MRN of either the brachial plexus or the lumbosacral plexus had a high diagnostic accuracy for CIDP, and it is not necessary to perform both parts of the examination. Level of Evidence: 2
Source: Spine - Category: Orthopaedics Tags: DIAGNOSTICS Source Type: research
Conclusion: While this is an unusual presentation of cerebral edema following DBS placement, ultimately, the outcome was good similar to other reported cases. Supportive care and corticosteroids remain the treatment of choice for this phenomenon. PMID: 33024597 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
Condition:   Aphasia Intervention:   Device: Rhythm-based speech therapy app (i.e., Speech Hero) Sponsors:   Ohio State University;   National Institute on Deafness and Other Communication Disorders (NIDCD) Suspended
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Chemotherapy-induced Peripheral Neuropathy Intervention:   Drug: Cannabidiol 100 MG/ML Sponsors:   Zealand University Hospital;   University of Copenhagen Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Aphasia Intervention:   Device: Rhythm-based speech therapy app (i.e., Speech Hero) Sponsors:   Ohio State University;   National Institute on Deafness and Other Communication Disorders (NIDCD) Suspended
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Chemotherapy-induced Peripheral Neuropathy Intervention:   Drug: Cannabidiol 100 MG/ML Sponsors:   Zealand University Hospital;   University of Copenhagen Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
ConclusionGanglioside monosialic acid potentially decreases severe utidelone plus capecitabine-induced peripheral neuropathy in metastatic breast cancer, and further investigation is needed to validate the manageable efficacy of GM1 in CIPN.Clinical Trial RegistrationClinicalTrials.gov, identifier NCT02253459.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Conclusions 18F-PI-2620 PET might be a sensitive tool to detect cortical tau deposits in patients with Aβ+ AD and Aβ+ non-AD tauopathies. Furthermore, this study showed that “off-target” binding in the basal ganglia does not affect 18F-PI-2620.
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Original Articles Source Type: research
Stroke mimic (SM) is a set of conditions with clinical presentation similar to that of an acute ischemic stroke (AIS), albeit not caused by an ischemic event [1]. From 1% to 41% of patients presenting stroke-like symptoms at admission to the Emergency Department are actually SM [2]. The most common SM etiologies are seizure (38%), migraine with aura (37%), and conversion disorder (21%) [3]. Other conditions of SM are metabolic, infectious, neurodegenerative disorder, peripheral neuropathy and syncope [3].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research
Conclusions:This case broadens the spectrum of neurologic disease associated with inflammatory bowel disease and TNF-alpha inhibitors. Encephalitis responsive to steroids should be considered in patients with inflammatory bowel disease exposed, even remotely, to anti-TNF-alpha biologics.Disclosure: Dr. Lin has nothing to disclose. Dr. Venna has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: CNS Inflammatory Diseases and Differential Diagnosis I Source Type: research
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