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Background: The positive predictive value (PPV) of the International Classification of Diseases, Ninth Revision-Clinical Modification (ICD-9-CM) code for "essential and other specified forms of tremor" in identifying essential tremor (ET) cases was found to be less than 50%. The ability of the ICD-10-CM G25.0 code for "essential tremor" to identify ET has not been determined. The study objective was to determine the PPV of the G25.0 code. Methods: Patients in a tertiary health system with a primary care encounter associated with ICD-10-CM code G25.0 in 2022 underwent medical record review to determine if the consensus criteria from the International Parkinson and Movement Disorder Society for an ET diagnosis were met. Results: 442 patients were included. The PPV of G25.0 in identifying probable ET cases was 74.7% (95% confidence interval (CI) 70.4-78.5%). Among patients prescribed propranolol, the PPV improved to 87.8% (95% CI 78.0-93.6%). Discussion: Compared to the ICD-9-CM code 333.1, G25.0 is superior for identifying ET cases. A potential limitation of this study is that the consensus criteria applied relies on nonspecific physical exam findings which may lead to an overestimation of the PPV of G25.0. Highlights: The ICD-10-CM diagnosis code for essential tremor has not been previously validated. The objective of this study was to determine the PPV of the G25.0 code. The PPV in identifying essential tremor cases was 74.7%. The PPV improved among patients prescribed propranolol.
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Tremor Essencial , Classificação Internacional de Doenças , Humanos , Tremor Essencial/diagnóstico , Tremor Essencial/classificação , Classificação Internacional de Doenças/normas , Feminino , Masculino , Idoso , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Propranolol/uso terapêuticoRESUMO
Background Arterial compression of the trigeminal nerve at the root entry zone has been the long-attributed cause of compressive trigeminal neuralgia despite numerous studies reporting distal and/or venous compression. The impact of compression type on patient outcomes has not been fully elucidated. Objective We categorized vascular compression (VC) based on vessel and location of compression to correlate pain outcomes based on compression type. Methods A retrospective video review of 217 patients undergoing endoscopic microvascular decompression for trigeminal neuralgia categorizing VC into five distinct types, proximal arterial compression (VC1), proximal venous compression (VC2), distal arterial compression (VC3), distal venous compression (VC4), and no VC (VC5). VC type was correlated with postoperative pain outcomes at 1 month ( n = 179) and last follow-up (mean = 42.9 mo, n = 134). Results At 1 month and longest follow-up, respectively, pain was rated as "much improved" or "very much improved" in 89 69% of patients with VC1, 86.6 and 62.5% of patients with VC2, 100 and 87.5% of patients with VC3, 83 and 62.5% of patients with VC4, and 100 and 100% of patients with VC5. Multivariate analysis demonstrated VC4 as a significant negative of predictor pain outcomes at 1 month, but not longest follow-up, and advanced age as a significant positive predictor. Conclusion The degree of clinical improvement in all types of VC was excellent, but at longest follow-up VC type was not a significant predictor out outcome. However distal venous compression was significantly associated with worse outcomes at 1 month.
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BACKGROUND: Occipital neuralgia (ON) is a debilitating headache disorder. Due to the rarity of this disorder and lack of high-level evidence, a clear framework for choosing the optimal surgical approach for medically refractory ON incorporating shared decision making with patients does not exist. METHODS: A literature review of studies reporting pain outcomes of patients who underwent surgical treatment for ON was performed, as well as a retrospective chart review of patients who underwent surgery for ON within our institution. RESULTS: Thirty-two articles met the inclusion criteria. A majority of the articles were retrospective case series (22/32). The mean number of patients across the studies was 34 (standard deviation (SD) 39). Among the 13 studies that reported change in pain score on 10-point scales, a study of 20 patients who had undergone C2 and/or C3 ganglionectomies reported the greatest reduction in pain intensity after surgery. The studies evaluating percutaneous ablative methods including radiofrequency ablation and cryoablation showed the smallest reduction in pain scores overall. At our institution from 2014 to 2023, 11 patients received surgical treatment for ON with a mean follow-up of 187 days (SD 426). CONCLUSION: Based on these results, the first decision aid for selecting a surgical approach to medically refractory ON is presented. The algorithm prioritizes nerve sparing followed by non-nerve sparing techniques with the incorporation of patient preference. Shared decision making is critical in the treatment of ON given the lack of clear scientific evidence regarding the superiority of a particular surgical method.
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Cefaleia , Neuralgia , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Cefaleia/terapia , Neuralgia/cirurgia , Técnicas de Apoio para a DecisãoRESUMO
Lymphomatoid granulomatosis is an Epstein-Barr virus-associated lymphoproliferative B-cell neoplasm that typically involves multiple organ systems. This disease is exceedingly rare when confined to the central nervous system (CNS), usually presenting as a mass lesion or diffuse disease, with no existing standard of care. We present the case of a 67-year-old patient who had a unique and insidious course of isolated CNS lymphomatoid granulomatosis. The disease first presented with cranial neuropathies involving the trigeminal and facial nerves that were responsive to steroids both clinically and radiographically. Two years later, the disease manifested as a parietal mass mimicking high-grade glioma that caused homonymous hemianopsia. The patient underwent craniotomy for resection and was treated with rituximab after surgery. The patient has achieved progression-free survival more than three years after the surgery. Surgical debulking and post-procedural rituximab resulted in favorable survival in a case of isolated CNS lymphomatoid granulomatosis. An intracranial mass preceded by steroid-responsive cranial neuropathies should raise suspicion for lymphoproliferative disorder.
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BACKGROUND: Despite higher rates of seizure freedom, a large proportion of patients with medically refractory seizures who could benefit from epilepsy surgery do not receive surgical treatment. This literature review describes the association of race and insurance status with epilepsy surgery access and outcomes. METHODS: Searches in Scopus and PubMed databases related to disparities in epilepsy surgery were conducted. The inclusion criteria consisted of data that could be used to compare epilepsy surgery patient access and outcomes by insurance or race in the United States. Two independent reviewers determined article eligibility. RESULTS: Of the 289 studies reviewed, 26 were included. Most of the studies were retrospective cohort studies (23 of 26) and national admissions database studies (13 of 26). Of the 17 studies that evaluated epilepsy surgery patient demographics, 11 showed that Black patients were less likely to receive surgery than were White patients or had an increased time to surgery from seizure onset. Nine studies showed that patients with private insurance were more likely to undergo epilepsy surgery and have shorter time to surgery compared with patients with public insurance. No significant association was found between the seizure recurrence rate after surgery with insurance or race. CONCLUSIONS: Black patients and patients with public insurance are receiving epilepsy surgery at lower rates after a prolonged waiting period compared with other patients with medically refractory epilepsy. These results are consistent across the current reported literature. Future efforts should focus on additional characterization and potential causes of these disparities to develop successful interventions.
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The parietal interhemispheric approach employing gravity retraction with skeletonization of bridging veins provides an excellent operative window for safe, curative resection of splenial arteriovenous malformations.
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Background: The optimal time to restart direct oral anticoagulants (DOACs) for nonvalvular atrial fibrillation (NVAF) after traumatic intracranial hemorrhage (tICH) is unknown. Physicians must weigh the risk of recurrent hemorrhage against ischemic stroke. We investigated rates of stroke while holding anticoagulation, hemorrhage after anticoagulation resumption, and factors associated with the decision to restart anticoagulation. Methods: Patients presenting to our level I trauma center for tICH while on a DOAC for NVAF were retrospectively reviewed over 2 years. Age, sex, DOAC use, antiplatelet use, congestive heart failure, hypertension, age, diabetes, previous stroke, vascular disease, sex score for stroke risk in NVAF, injury mechanism, bleeding pattern, Injury Severity Score, use of a reversal agent, Glasgow Coma Scale at 24 hours, hemorrhage expansion, neurosurgical intervention, Morse Fall Risk, DOAC restart date, rebleed events, and ischemic stroke were recorded to study rates of recurrent hemorrhage and stroke, and factors that influenced the decision to restart anticoagulation. Results: Twenty-eight patients sustained tICH while on a DOAC. Fall was the most common mechanism (89.3%), and subdural hematoma was the predominant bleeding pattern (60.7%). Of the 25 surviving patients, 16 patients (64%) restarted a DOAC a median 29.5 days after tICH. One patient had recurrent hemorrhage after resuming anticoagulation. One patient had an embolic stroke after 118 days off anticoagulation. Age >80, Injury Severity Score ≥16, and expansion of tICH influenced the decision to indefinitely hold anticoagulation. Conclusion: The low stroke rate observed in this study suggests that holding DOACs for NVAF for 1 month is sufficient to reduce the risk of stroke after tICH. Additional data are required to determine optimal restart timing.
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OBJECTIVE: Prior work reveals that Enhanced Recovery After Surgery (ERAS) programs decrease opioid use, improve mobilization, and shorten length of stay (LOS) among patients undergoing spine surgery. The impact of ERAS on outcomes by race/ethnicity is unknown. This study examined outcomes by race/ethnicity among neurosurgical patients enrolled in an ERAS program. METHODS: Patients undergoing elective spine or peripheral nerve surgeries at a multi-hospital university health system from April 2017 to November 2020 were enrolled in an ERAS program that involves preoperative, perioperative, and postoperative phases focused on improving outcomes through measures such as specialty consultations for co-morbidities, multimodal analgesia, early mobilization, and wound care education. The following outcomes for ERAS patients were compared by race/ethnicity: length of stay, discharge disposition, complications, readmission, pain level at discharge, and post-operative health rating. We estimated the association between race/ethnicity and the outcomes using linear and logistic regression models adjusting for age, sex, insurance, BMI, comorbid conditions, and surgery type. RESULTS: Among participants (n = 3449), 2874 (83.3%) were White and 575 (16.7%) were Black, Indigenous, and people of color (BIPOC). BIPOC patients had significantly longer mean length of stay compared to White patients (3.8 vs. 3.4 days, p = 0.005) and were significantly more likely to be discharged to a rehab or subacute nursing facility compared to White patients (adjusted odds ratio (95% CI): 3.01 (2.26-4.01), p < 0.001). The complication rate did not significantly differ between BIPOC and White patients (13.7% vs. 15.5%, p = 0.29). BIPOC patients were not significantly more likely to be readmitted within 30 days compared to White patients in the adjusted model (adjusted odds ratio (95% CI): 1.30 (0.91-1.86), p = 0.15) CONCLUSION: BIPOC as compared to White ERAS participants in ERAS undergoing neurosurgical procedures had significantly longer hospital stays and were significantly less likely to be discharged home. ERAS protocols present an opportunity to provide consistent high quality post-operative care, however while there is evidence that it improves care in aggregate, our results suggest significant disparities in outcomes by patient race/ethnicity despite enrollment in ERAS. Future inquiry must identify contributors to these disparities in the recovery pathway.
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Recuperação Pós-Cirúrgica Melhorada , Etnicidade , Tempo de Internação , Procedimentos Neurocirúrgicos , Nervos Periféricos , Complicações Pós-Operatórias , Grupos Raciais , Coluna Vertebral , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Massa Corporal , Comorbidade , Etnicidade/estatística & dados numéricos , Grupos Minoritários/estatística & dados numéricos , Procedimentos Neurocirúrgicos/estatística & dados numéricos , Razão de Chances , Nervos Periféricos/cirurgia , Complicações Pós-Operatórias/epidemiologia , Grupos Raciais/estatística & dados numéricos , Estudos Retrospectivos , Coluna Vertebral/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: This historical account reviews the course and lasting impact of Dr. Louise Eisenhardt (1891-1967) in neurosurgery. METHOD: The writing of this project was sparked by the discovery of original scientific and bibliographical information about Eisenhardt, testimony on personal relationships, and viewpoints after comprehensive compilation of information. It is a thorough review of literature on Eisenhardt and reflects the scope and depth of these prior works. RESULTS: It begins with the decisive influence of Harvey Cushing's mentorship and academic; follows Eisenhardt's impact on the development of modern neuropathology; discusses the Eisenhardt-Percival-Bailey-Cushing collaboration on gross brain specimens and histological classification of brain tumors; recounts Cushing's creation of a neuropathologist team for the Brain Tumor Registry working asynchronously with the Pathology Department at Peter Bent Brigham Hospital; Eisenhardt's aid in the development of intraoperative analysis of brain tumors; her career as a neuropathologist; her contributions as Editor-in-Chief of the Journal of Neurosurgery; and her preservation of the Brain Tumor Registry at Yale University School of Medicine estimated the largest and most valuable databank of information in the history of medicine. Eisenhardt served as President, Historian, and Secretary-Treasurer of the Harvey Cushing Society, the professional organization now known as the American Association of Neurological Surgeons, and was senior lecturer for members of the Congress of Neurological Surgeons, constituents of NEUROSURGERY Publications. CONCLUSIONS: Our article provides glimpses into the personality of Dr. Louise Eisenhardt and her marked impact on neurosurgery and allied neurosciences.
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Neoplasias Encefálicas , Neurocirurgia , Humanos , Feminino , Estados Unidos , História do Século XX , Neuropatologia , Sociedades , Neoplasias Encefálicas/cirurgia , EncéfaloRESUMO
PURPOSE: Gender is a known social determinant of health (SDOH) that has been linked to neurosurgical outcome disparities. To improve quality of care, there exists a need to investigate the impact of gender on procedure-specific outcomes. The objective of this study was to assess the role of gender on short- and long-term outcomes following resection of meningiomas - the most common benign brain neoplasm of adulthood - between exact matched patient cohorts. MATERIAL AND METHODS: All consecutive patients undergoing supratentorial meningioma resection (n = 349) at a single, university-wide health system over a 6-year period were analyzed retrospectively. Coarsened exact matching was employed to match patients on numerous key characteristics related to outcomes. Primary outcomes included readmission, ED visit, reoperation, and mortality within 30 and 90 days of surgery. Mortality and reoperation were also assessed during the entire follow-up period. Outcomes were compared between matched female and male cohorts. RESULTS: Between matched cohorts, no significant difference was observed in morbidity or mortality at 30 days (p = 0.42-0.75), 90-days (p = 0.23-0.69), or throughout the follow-up period (p = 0.22-0.45). Differences in short-term mortality could not be assessed due to the low number of mortality events. CONCLUSIONS: After matching on characteristics known to impact outcomes and when isolated from other SDOHs, gender does not independently affect morbidity and mortality following meningioma resection. Further research on the role of other SDOHs in this population is merited to better understand underlying drivers of disparity.
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Neoplasias Meníngeas , Meningioma , Neoplasias Supratentoriais , Humanos , Masculino , Feminino , Adulto , Meningioma/cirurgia , Meningioma/epidemiologia , Estudos Retrospectivos , Reoperação , Neoplasias Supratentoriais/cirurgia , Neoplasias Meníngeas/cirurgia , Neoplasias Meníngeas/epidemiologia , Readmissão do PacienteRESUMO
BACKGROUND: Diversion of prescription opioids pills is a significant contributor to opioid misuse and the opioid epidemic. The goal of this study was to determine the frequency and quantity of excess opioid pills among patients undergoing spine surgery. Further, we wanted to determine the frequency of appropriate opioid disposal. METHODS: This was a prospective cohort study of patients undergoing elective spine surgery within a multi-hospital, academic, urban university health system enrolled in a text-messaging program used to track postoperative opioid disposal. Patients who self-reported discontinuation of opioid use but with leftover pills were contacted via telephone and surveyed on opioid disposal. RESULTS: Of the 291 patients who enrolled in the text-messaging program, 192 (66%) patients reported discontinuing opioids within 3 months of surgery. Although 76 (40%) reported excess opioid pills after cessation of use, only 47 (62%) participated in the telephone survey regarding opioid disposal. The median number of leftover pills among these 47 patients was 5 (5, 15) and 64% had not disposed of their prescription. CONCLUSION: Among the 47 telephone survey participants, a persistent gap remained in postoperative opioid excess and improper disposal. Future efforts must focus on initiatives to improve opioid disposal rates to reduce the quantity of opioids at risk for diversion and to reduce excess prescribing.
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A 57-year-old female with eight years of hemifacial spasm (HFS) underwent endoscopic microvascular decompression (MVD) of the facial nerve. Baseline stimulation of the zygomatic branch of the facial nerve activated at 1.2 mA. Lateral spread response (LSR) to the buccal and mandibular branches was observed at 2.2 mA. A straight endoscope was used to enter the cerebellopontine angle, allowing for visualization of the vestibulocochlear and facial nerve. Neurovascular compression was not clearly identified. A 30-degree endoscope was directed medially/inferiorly and compression at the root entry zone was identified and decompressed. Subsequent LSR to the buccal/mandibular branches was seen at 3.2 mA/3.6 mA, respectively. Additional vascular compression was suspected given persistent LSR. The 30-degree endoscope was directed laterally. Compression was seen at the porus acustics and decompressed. Subsequent LSR to the buccal/mandibular branches was not observed until 9.8 mA, indicating good decompression. The patient tolerated the procedure well with complete resolution of her symptoms and remains spasm-free as of three months post-procedure without a hearing deficit. The 30-degree endoscope enabled visualization of pathology that was not easily seen at 0-degree. Additionally, LSR indicated persistent nerve compression following root entry zone decompression. Subsequent distal decompression resulted in greater LSR reduction. This case report suggests that MVD for HFS may yield better results with both proximal and distal decompression of the seventh nerve, and this type of decompression can benefit from endoscopic visualization.
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OBJECTIVE: We studied the risk of associated spinal and nonspinal injuries (NSIs) in the setting of observed thoracolumbar transverse process fracture (TPF) and examined the clinical management of TPF. METHODS: Patients treated at a Level I trauma center over a 5-year period were screened for thoracolumbar TPF. Prevalence of associated spinal fractures and NSIs as well as relationship to level of TPF was explored. Clinical management and follow-up outcomes were reviewed. RESULTS: A total of 252 patients with thoracolumbar TPFs were identified. NSIs were commonly observed (70.6%, n = 178); however, associated spinal fractures were more rarely seen (24.6%, n = 62, P < 0.0001). No patients had neurological deficits attributable to TPFs, and only 3 patients with isolated TPFs were treated with orthosis. Among patients with outpatient follow-up (70.6%, n = 178), none developed delayed-onset neurological deficits or spinal instability. Thoracic TPFs (odds ratio = 3.56, 95% confidence interval = 1.20-10.56) and L1 TPFs (odds ratio = 2.48, 95% confidence interval = 1.41-4.36) were predictive of associated thoracic NSIs. L5 TPF was associated with pelvic fractures (odds ratio = 6.30, 95% confidence interval = 3.26-12.17). There was no difference in rate of NSIs between isolated TPF (70.0%) and TPF with associated clinically relevant spinal fracture (72.6%, P = 0.70). CONCLUSIONS: NSIs are nearly 3 times more common in patients with thoracolumbar TPFs than associated clinically relevant spinal fractures. Spine service consultation for TPF may be unnecessary unless fracture is associated with a clinically relevant spinal injury, which represents a minority of cases. However, detection of TPF should raise suspicion for high likelihood of associated NSIs.
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Traumatismos Abdominais/epidemiologia , Fraturas Múltiplas/epidemiologia , Vértebras Lombares/lesões , Fraturas da Coluna Vertebral/epidemiologia , Traumatismos Torácicos/epidemiologia , Vértebras Torácicas/lesões , Corpo Vertebral/lesões , Acidentes por Quedas , Acidentes de Trânsito , Adulto , Idoso , Feminino , Humanos , Extremidade Inferior/lesões , Masculino , Pessoa de Meia-Idade , Pedestres , Ossos Pélvicos/lesões , Extremidade Superior/lesõesAssuntos
Lesões das Artérias Carótidas/diagnóstico por imagem , Lesões das Artérias Carótidas/etiologia , Traumatismos Faciais/diagnóstico por imagem , Ferimentos por Arma de Fogo/complicações , Ferimentos por Arma de Fogo/diagnóstico por imagem , Adulto , Angiografia Digital , Lesões das Artérias Carótidas/terapia , Angiografia por Tomografia Computadorizada , Diagnóstico Diferencial , Embolização Terapêutica , Serviço Hospitalar de Emergência , Humanos , MasculinoRESUMO
BACKGROUND: Transgender people and racial/ethnic minorities separately report poor healthcare experiences. However, little is known about the healthcare experiences of transgender people of color (TPOC), who are both transgender and racial/ethnic minorities. OBJECTIVE: To investigate how TPOC healthcare experiences are shaped by both race/ethnicity and gender identity. DESIGN AND PARTICIPANTS: Semi-structured, in-depth individual interviews (n = 22) and focus groups (2; n = 17 total); all taken from a sample of TPOC from the Chicago area. All participants completed a quantitative survey (n = 39). APPROACH: Interviews and focus groups covered healthcare experiences, and how these were shaped by gender identity and/or race/ethnicity. The interviews and focus groups were audio recorded, transcribed verbatim, and imported into HyperRESEARCH software. At least two reviewers independently coded each transcript using a codebook of themes created following grounded theory methodology. The quantitative survey data captured participants' demographics and past healthcare experiences, and were analyzed with descriptive statistics. KEY RESULTS: All participants described healthcare experiences where providers responded negatively to their race/ethnicity and/or gender identity. A majority of participants believed they would be treated better if they were cisgender or white. Participants commonly cited providers' assumptions about TPOC as a pivotal factor in negative experiences. A majority of participants sought out healthcare locations designated as lesbian, gay, bisexual, and transgender (LGBT)-friendly in an effort to avoid discrimination, but feared experiencing racism there. A minority of participants expressed a preference for providers of color; but a few reported reluctance to reveal their gender identity to providers of their own race due to fear of transphobia. When describing positive healthcare experiences, participants were most likely to highlight providers' respect for their gender identity. CONCLUSIONS: TPOC have different experiences compared with white transgender or cisgender racial/ethnic minorities. Providers must improve understanding of intersectional experiences of TPOC to improve quality of care.
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Etnicidade/psicologia , Disparidades em Assistência à Saúde/etnologia , Fatores Raciais , Pessoas Transgênero/psicologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Grupos Focais , Humanos , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Inquéritos e Questionários , Adulto JovemRESUMO
OBJECTIVE: Revascularization of a symptomatic, medically refractory, cervical chronically occluded internal carotid artery (COICA) using endovascular techniques (ETs) has surfaced as a viable alternative to extracranial-intracranial bypass. The authors aimed to assess the safety, success, and neurocognitive outcomes of recanalization of COICA using ETs or hybrid treatment (ET plus carotid endarterectomy) and to identify candidate radiological markers that could predict success. METHODS: The authors performed a retrospective analysis of their prospectively collected institutional database and used their previously published COICA classification to assess the potential benefits of ETs or hybrid surgery to revascularize symptomatic patients with COICA. Subjects who had undergone CT perfusion (CTP) imaging and Montreal Cognitive Assessment (MoCA) testing, both pre- and postprocedure, were included. The authors then performed a review of the literature on patients with COICA to further evaluate the success and safety of these treatment alternatives. RESULTS: The single-center study revealed 28 subjects who had undergone revascularization of symptomatic COICA. Five subjects had CTP imaging and MoCA testing pre- and postrevascularization and thus were included in the study. All 5 patients had very large penumbra involving the entire hemisphere supplied by the ipsilateral COICA, which resolved postoperatively. Significant improvement in neurocognitive outcome was demonstrated by MoCA testing after treatment (preprocedure: 19.8 ± 2.4, postprocedure: 27 ± 1.6; p = 0.0038). Moreover, successful revascularization of COICA led to full restoration of cerebral hemodynamics in all cases. Review of the literature identified a total of 333 patients with COICA. Of these, 232 (70%) showed successful recanalization after ETs or hybrid surgery, with low major and minor complication rates (3.9% and 2.7%, respectively). CONCLUSIONS: ETs and hybrid surgery are safe and effective alternatives to revascularize patients with symptomatic COICA. CTP imaging could be used as a radiological marker to assess cerebral hemodynamics and predict the success of revascularization. Improvement in CTP parameters is associated with significant improvement in neurocognitive functions.
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Created Out of Mind is an interdisciplinary project, comprised of individuals from arts, social sciences, music, biomedical sciences, humanities and operational disciplines. Collaboratively we are working to shape perceptions of dementias through the arts and sciences, from a position within the Wellcome Collection. The Collection is a public building, above objects and archives, with a porous relationship between research, museum artefacts, and the public. This pre-planning framework will act as an introduction to Created Out of Mind. The framework explains the rationale and aims of the project, outlines our focus for the project, and explores a number of challenges we have encountered by virtue of working in this way.
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BACKGROUND: Non-syndromic hearing loss (NSHL) is the most common sensory impairment in humans. Until recently its extreme genetic heterogeneity precluded comprehensive genetic testing. Using a platform that couples targeted genomic enrichment (TGE) and massively parallel sequencing (MPS) to sequence all exons of all genes implicated in NSHL, we tested 100 persons with presumed genetic NSHL and in so doing established sequencing requirements for maximum sensitivity and defined MPS quality score metrics that obviate Sanger validation of variants. METHODS: We examined DNA from 100 sequentially collected probands with presumed genetic NSHL without exclusions due to inheritance, previous genetic testing, or type of hearing loss. We performed TGE using post-capture multiplexing in variable pool sizes followed by Illumina sequencing. We developed a local Galaxy installation on a high performance computing cluster for bioinformatics analysis. RESULTS: To obtain maximum variant sensitivity with this platform 3.2-6.3 million total mapped sequencing reads per sample were required. Quality score analysis showed that Sanger validation was not required for 95% of variants. Our overall diagnostic rate was 42%, but this varied by clinical features from 0% for persons with asymmetric hearing loss to 56% for persons with bilateral autosomal recessive NSHL. CONCLUSIONS: These findings will direct the use of TGE and MPS strategies for genetic diagnosis for NSHL. Our diagnostic rate highlights the need for further research on genetic deafness focused on novel gene identification and an improved understanding of the role of non-exonic mutations. The unsolved families we have identified provide a valuable resource to address these areas.