Utility of Flexion and Extension MRI for Evaluating Isolated Cervical Spinal Cord Lesions: A Case Series.

The diagnosis of isolated spinal cord lesions is often challenging in clinical practice, and it is not uncommon for the etiology of such isolated lesions to remain unclear despite extensive workup and investigations. Magnetic resonance imaging (MRI) is extensively utilized for assessing spinal cord disease, despite certain radiological patterns suggesting certain pathologies, diagnostic uncertainty remains. Development of adjunct tests and techniques, radiographic or otherwise, is needed. Here, we present two cases in which flexion-extension cervical spine MRIs improved diagnostic ability by demonstrating dynamic cervical cord compression as an etiology for isolated intramedullary cervical spinal cord lesions.

A Single-Health System Case Series of New-Onset CNS Inflammatory Disorders Temporally Associated With mRNA-Based SARS-CoV-2 Vaccines.

Background: Since 2020, over 250 million doses of mRNA-based SARS-CoV-2 vaccines have been administered in the United States and hundreds of millions worldwide between the Pfizer-BioNTech and Moderna SARS-CoV-2 vaccines. To date, there have been rare reports associating mRNA-based SARS-CoV-2 vaccines with episodes of inflammatory and autoimmune CNS disorders. We report a case series of five patients with new-onset neurological disorders of inflammatory or immunological origin temporally associated with these vaccines. Methods: A case-series of five patients within a single 23-hospital health system who developed new-onset CNS inflammatory disease within 2 weeks of receiving a dose of an mRNA-based SARS-CoV-2 vaccine. Results: Five cases of post-vaccination CNS disorders of immune origin (fatal ADEM; n = 1, new-onset NMOSD; n = 2, new-clinical onset MS-like syndrome but with preexisting clinically silent mild demyelination; n = 1, meningoencephalitis; n = 1) observed within 2 weeks of inoculation with either the first or second dose of mRNA-based SARS-CoV-2 vaccines (Moderna = 3, Pfizer = 2). Discussion: To our knowledge, these are among the emerging cases of CNS adverse events of immunological or inflammatory origin. These findings should be interpreted with great caution as they neither prove a mechanistic link nor imply a potential long-term increased risk in post-vaccination CNS autoimmunity. Larger prospective studies assessing the potential association between mRNA-based vaccination and the development of neurological adverse events of suspected immune origin, particularly among those with underlying CNS or systemic autoimmune disorders, are needed. The use of mRNA-based SARS-CoV-2 vaccines should continue to be strongly encouraged given their high efficacy in overcoming this pandemic.

Isolating the Superficial Peroneal Nerve Motor Branch to the Peroneus Longus Muscle with Concentric Stimulation during Diagnostic Motor Nerve Biopsy.

Motor nerve biopsies are performed in the workup of neuropathies of unknown origin when motor neuron disease is suspected. Biopsy of a motor branch of the superficial peroneal nerve innervating the peroneus longus muscle has been described as a convenient alternative to other commonly biopsied motor nerves. To date, neuromonitoring techniques have not been described for this procedure. We describe the surgical neurophysiology techniques necessary for preservation of motor function and associated data during muscle biopsy of a motor branch of the superficial peroneal nerve innervating the peroneus longus muscle. We present a case of a patient who underwent uncomplicated biopsy of the motor branch of the superficial peroneal nerve innervating the peroneus longus muscle during workup for suspected motor neuropathy. The surgical neurophysiology techniques and data are presented in detail. No postsurgical sensory or motor deficit was related to the procedure. Surgical neurophysiology is critical to confirm the appropriate motor branch to the peroneus longus muscle and facilitates safe and accurate motor nerve biopsy.

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.

BACKGROUND: Oral clefts, that is, clefts of the lip and/or cleft palate (CL/P), are the most common craniofacial birth defects with an approximate incidence of ~1/700. To date, physicians stratify patients with oral clefts into either syndromic CL/P (syCL/P) or non-syndromic CL/P (nsCL/P) depending on whether the CL/P is associated with another anomaly or not. In general, patients with syCL/P follow Mendelian inheritance, while those with nsCL/P have a complex aetiology and, as such, do not adhere to Mendelian inheritance. Genome-wide association studies have identified approximately 30 risk loci for nsCL/P, which could explain a small fraction of heritability. METHODS: To identify variants causing nsCL/P, we conducted whole exome sequencing on 84 individuals with nsCL/P, drawn from multiplex families (n=46). RESULTS: We identified rare damaging variants in four genes known to be mutated in syCL/P: TP63 (one family), TBX1 (one family), LRP6 (one family) and GRHL3 (two families), and clinical reassessment confirmed the isolated nature of their CL/P. CONCLUSION: These data demonstrate that patients with CL/P without cardinal signs of a syndrome may still carry a mutation in a gene linked to syCL/P. Rare coding and non-coding variants in syCL/P genes could in part explain the controversial question of 'missing heritability' for nsCL/P. Therefore, gene panels designed for diagnostic testing of syCL/P should be used for patients with nsCL/P, especially when there is at least third-degree family history. This would allow a more precise management, follow-up and genetic counselling. Moreover, stratified cohorts would allow hunting for genetic modifiers.

Craniofacial characteristics in the sagittal dimension: A cephalometric study in Lebanese young adults.

OBJECTIVES: The purpose of this study was to assess the sagittal cephalometric characteristics of young adult Lebanese individuals and assess gender-related differences. MATERIALS AND METHODS: Conventional lateral cephalograms were obtained from 117 subjects. Eight linear/angular measurements combining sagittal parameters selected form McNamara and Steiner analyses were recorded. Paired t-test was applied to evaluate differences between genders and skeletal classes. RESULTS: Males showed significantly greater maxillary and mandibular length than females. ANB was larger in females with no significant differences in SNA values indicating that Lebanese females tend to have a more convex profile than their male counterparts. Subjects with skeletal Class III tended to have a retrognathic maxilla rather than a prognathic mandible. CONCLUSIONS: Sexual dimorphism is evident in young Lebanese adults relative to linear skeletal dimensions regardless of the skeletal class. Skeletal determinants of Class III malocclusions may be different from those of other population groups.

Aphasia due to isolated infarction of the corpus callosum.

A 63-year-old man with an isolated infarction of the corpus callosum developed expressive aphasia in addition to the deficits traditionally associated with a disconnection syndrome.

Alveolar osseous distraction by the combined use of modified miniplates and an orthodontic appliance. A technical note.

An original alveolar osseous distraction method using a Hyrax orthodontic device connected to two miniplates modified as a skeletal orthodontic anchorage (Bollard™ type) is reported and illustrated by three cases. In all three cases with alveolar bone insufficiency, the alveolar osseous distraction allowed for dental implant positioning and fixed dental prosthetic rehabilitation.