Protein ubiquitination is a posttranslational modification that plays an integral part in mediating diverse cellular functions. The process of protein ubiquitination requires an enzymatic cascade that consists of a ubiquitin activating enzyme (E1), ubiquitin conjugating enzyme (E2) and an E3 ubiquitin ligase (E3). There are an estimated 600–700 E3 ligase genes representing ~5% of the human genome. Not surprisingly, mutations in E3 ligase genes have been observed in multiple neurological conditions. We constructed a comprehensive atlas of disrupted E3 ligase genes in common (CND) and rare neurological diseases (RND). Of the predicted and known human E3 ligase genes, we found ~13% were mutated in a neurological disorder with 83 total genes representing 70 different types of neurological diseases. Of the E3 ligase genes identified, 51 were associated with an RND. Here, we provide an updated list of neurological disorders associated with E3 ligase gene disruption. We further highlight research in these neurological disorders and discuss the advanced technologies used to support these findings.
The NIMH Healthy Research Volunteer Dataset is a collection of phenotypic data characterizing healthy research volunteers using clinical assessments such as assays of blood and urine, mental health assessments, diagnostic and dimensional measures of mental health, cognitive and neuropsychological functioning, structural and functional magnetic resonance imaging (MRI), along with diffusion tensor imaging (DTI), and a comprehensive magnetoencephalography battery (MEG). In addition, blood samples of healthy volunteers are banked for future analyses. All data collected in this protocol are broadly shared in the OpenNeuro repository, in the Brain Imaging Data Structure (BIDS) format. In addition, task paradigms and basic pre-processing scripts are shared on GitHub. There are currently few open access MEG datasets, and multimodal neuroimaging datasets are even more rare. Due to its depth of characterization of a healthy population in terms of brain health, this dataset may contribute to a wide array of secondary investigations of non-clinical and clinical research questions.
OBJECTIVE The rates of women and underrepresented racial and ethnic minority (UREM) students successfully matching into neurosurgical residency are extremely low and do not reflect the makeup of the general population. As of 2019, only 17.5% of neurosurgical residents in the United States were women, 4.95% were Black or African American, and 7.2% were Hispanic or Latinx. Earlier recruitment of UREM students will help to diversify the neurosurgical workforce. Therefore, the authors developed a virtual educational event for undergraduate students entitled "Future Leaders in Neurosurgery Symposium for Underrepresented Students’’ (FLNSUS). The primary objectives of the FLNSUS were to expose attendees to 1) neurosurgeons from diverse gender, racial, and ethnic backgrounds; 2) neurosurgical research; 3) opportunities for neurosurgical mentorship; and 4) information about life as a neurosurgeon. The authors hypothesized that the FLNSUS would increase student self-confidence, provide exposure to the specialty, and reduce perceived barriers to a neurosurgical career. METHODS To measure the change in participant perceptions of neurosurgery, pre- and postsymposium surveys were administered to attendees. Of the 269 participants who completed the presymposium survey, 250 participated in the virtual event and 124 completed the postsymposium survey. Paired pre- and postsurvey responses were used for analysis, yielding a response rate of 46%. To assess the impact of participant perceptions of neurosurgery as a field, pre- and postsurvey responses to questions were compared. The change in response was analyzed, and a nonparametric sign test was performed to check for significant differences. RESULTS According to the sign test, applicants showed increased familiarity with the field (p < 0.001), increased confidence in their abilities to become neurosurgeons (p = 0.014), and increased exposure to neurosurgeons from diverse gender, racial, and ethnic backgrounds (p < 0.001 for all categories). CONCLUSIONS These results reflect a significant improvement in student perceptions of neurosurgery and suggest that symposiums like the FLNSUS may promote further diversification of the field. The authors anticipate that events promoting diversity in neurosurgery will lead to a more equitable workforce that will ultimately translate to enhanced research productivity, cultural humility, and patient-centered care in neurosurgery.
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