Searched for: school:SOM
Department/Unit:Neurology
How Can International Consistency in Determination of Brain Death/Death by Neurological Criteria be Improved? The World Brain Death Project
Lewis, Ariane
PMID: 36735353
ISSN: 1537-1921
CID: 5420542
Validation of the Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT) questionnaire for adults
Solmi, Marco; Thompson, Trevor; Estradé, Andrés; Agorastos, Agorastos; Radua, Joaquim; Cortese, Samuele; Dragioti, Elena; Leisch, Friedrich; Vancampfort, Davy; Thygesen, Lau Caspar; Aschauer, Harald; Schlögelhofer, Monika; Aschauer, Elena; Schneeberger, Andres; Huber, Christian G; Hasler, Gregor; Conus, Philippe; Do Cuénod, Kim Q; von Känel, Roland; Arrondo, Gonzalo; Fusar-Poli, Paolo; Gorwood, Philip; Llorca, Pierre-Michel; Krebs, Marie-Odile; Scanferla, Elisabetta; Kishimoto, Taishiro; Rabbani, Golam; Skonieczna-Żydecka, Karolina; Brambilla, Paolo; Favaro, Angela; Takamiya, Akihiro; Zoccante, Leonardo; Colizzi, Marco; Bourgin, Julie; Kamiński, Karol; Moghadasin, Maryam; Seedat, Soraya; Matthews, Evan; Wells, John; Vassilopoulou, Emilia; Gadelha, Ary; Su, Kuan-Pin; Kwon, Jun Soo; Kim, Minah; Lee, Tae Young; Papsuev, Oleg; Manková, Denisa; Boscutti, Andrea; Gerunda, Cristiano; Saccon, Diego; Righi, Elena; Monaco, Francesco; Croatto, Giovanni; Cereda, Guido; Demurtas, Jacopo; Brondino, Natascia; Veronese, Nicola; Enrico, Paolo; Politi, Pierluigi; Ciappolino, Valentina; Pfennig, Andrea; Bechdolf, Andreas; Meyer-Lindenberg, Andreas; Kahl, Kai G; Domschke, Katharina; Bauer, Michael; Koutsouleris, Nikolaos; Winter, Sibylle; Borgwardt, Stefan; Bitter, Istvan; Balazs, Judit; Czobor, Pál; Unoka, Zsolt; Mavridis, Dimitris; Tsamakis, Konstantinos; Bozikas, Vasilios P; Tunvirachaisakul, Chavit; Maes, Michael; Rungnirundorn, Teerayuth; Supasitthumrong, Thitiporn; Haque, Ariful; Brunoni, Andre R; Costardi, Carlos Gustavo; Schuch, Felipe Barreto; Polanczyk, Guilherme; Luiz, Jhoanne Merlyn; Fonseca, Lais; Aparicio, Luana V; Valvassori, Samira S; Nordentoft, Merete; Vendsborg, Per; Hoffmann, Sofie Have; Sehli, Jihed; Sartorius, Norman; Heuss, Sabina; Guinart, Daniel; Hamilton, Jane; Kane, John; Rubio, Jose; Sand, Michael; Koyanagi, Ai; Solanes, Aleix; Andreu-Bernabeu, Alvaro; Cáceres, Antonia San José; Arango, Celso; Díaz-Caneja, Covadonga M; Hidalgo-Mazzei, Diego; Vieta, Eduard; Gonzalez-Peñas, Javier; Fortea, Lydia; Parellada, Mara; Fullana, Miquel A; Verdolini, Norma; Andrlíková, Eva; Janků, Karolina; Millan, Mark John; Honciuc, Mihaela; Moniuszko-Malinowska, Anna; Łoniewski, Igor; Samochowiec, Jerzy; Kiszkiel, Łukasz; Marlicz, Maria; Sowa, Paweł; Marlicz, Wojciech; Spies, Georgina; Stubbs, Brendon; Firth, Joseph; Sullivan, Sarah; Darcin, Asli Enez; Aksu, Hatice; Dilbaz, Nesrin; Noyan, Onur; Kitazawa, Momoko; Kurokawa, Shunya; Tazawa, Yuki; Anselmi, Alejandro; Cracco, Cecilia; Machado, Ana Inés; Estrade, Natalia; De Leo, Diego; Curtis, Jackie; Berk, Michael; Ward, Philip; Teasdale, Scott; Rosenbaum, Simon; Marx, Wolfgang; Horodnic, Adrian Vasile; Oprea, Liviu; Alexinschi, Ovidiu; Ifteni, Petru; Turliuc, Serban; Ciuhodaru, Tudor; Bolos, Alexandra; Matei, Valentin; Nieman, Dorien H; Sommer, Iris; van Os, Jim; van Amelsvoort, Therese; Sun, Ching-Fang; Guu, Ta-Wei; Jiao, Can; Zhang, Jieting; Fan, Jialin; Zou, Liye; Yu, Xin; Chi, Xinli; de Timary, Philippe; van Winkel, Ruud; Ng, Bernardo; Pena, Edilberto; Arellano, Ramon; Roman, Raquel; Sanchez, Thelma; Movina, Larisa; Morgado, Pedro; Brissos, Sofia; Aizberg, Oleg; Mosina, Anna; Krinitski, Damir; Mugisha, James; Sadeghi-Bahmani, Dena; Sheybani, Farshad; Sadeghi, Masoud; Hadi, Samira; Brand, Serge; Errazuriz, Antonia; Crossley, Nicolas; Ristic, Dragana Ignjatovic; López-Jaramillo, Carlos; Efthymiou, Dimitris; Kuttichira, Praveenlal; Kallivayalil, Roy Abraham; Javed, Afzal; Afridi, Muhammad Iqbal; James, Bawo; Seb-Akahomen, Omonefe Joy; Fiedorowicz, Jess; Carvalho, Andre F; Daskalakis, Jeff; Yatham, Lakshmi N; Yang, Lin; Okasha, Tarek; Dahdouh, Aïcha; Gerdle, Björn; Tiihonen, Jari; Shin, Jae Il; Lee, Jinhee; Mhalla, Ahmed; Gaha, Lotfi; Brahim, Takoua; Altynbekov, Kuanysh; Negay, Nikolay; Nurmagambetova, Saltanat; Jamei, Yasser Abu; Weiser, Mark; Correll, Christoph U
BACKGROUND:The Collaborative Outcome study on Health and Functioning during Infection Times (COH-FIT; www.coh-fit.com) is an anonymous and global online survey measuring health and functioning during the COVID-19 pandemic. The aim of this study was to test concurrently the validity of COH-FIT items and the internal validity of the co-primary outcome, a composite psychopathology "P-score". METHODS:The COH-FIT survey has been translated into 30 languages (two blind forward-translations, consensus, one independent English back-translation, final harmonization). To measure mental health, 1-4 items ("COH-FIT items") were extracted from validated questionnaires (e.g. Patient Health Questionnaire 9). COH-FIT items measured anxiety, depressive, post-traumatic, obsessive-compulsive, bipolar and psychotic symptoms, as well as stress, sleep and concentration. COH-FIT Items which correlated r ≥ 0.5 with validated companion questionnaires, were initially retained. A P-score factor structure was then identified from these items using exploratory factor analysis (EFA) and confirmatory factor analyses (CFA) on data split into training and validation sets. Consistency of results across languages, gender and age was assessed. RESULTS:From >150,000 adult responses by May 6th, 2022, a subset of 22,456 completed both COH-FIT items and validated questionnaires. Concurrent validity was consistently demonstrated across different languages for COH-FIT items. CFA confirmed EFA results of five first-order factors (anxiety, depression, post-traumatic, psychotic, psychophysiologic symptoms) and revealed a single second-order factor P-score, with high internal reliability (ω = 0.95). Factor structure was consistent across age and sex. CONCLUSIONS:COH-FIT is a valid instrument to globally measure mental health during infection times. The P-score is a valid measure of multidimensional mental health.
PMCID:9794522
PMID: 36586617
ISSN: 1573-2517
CID: 5442082
The Transformation of Documenting and Coding for Neurologic Hospital Inpatient and Observation Services
Villanueva, Raissa; Busis, Neil A; Cohen, Bruce H; Ciccarelli, Luana
Landmark changes to documenting and coding for office or other outpatient evaluation and management (E/M) codes were implemented on January 1, 2021. To decrease clinicians' administrative burden, many documentation requirements were eliminated. In addition, major changes were made in how medical decision making and time spent on the date of the encounter are used to determine the level of service. On January 1, 2023, these changes were extended to inpatient and observation E/M services. The level of service in both inpatient and outpatient settings can now be selected based on the total time dedicated to the patient's care on the day of the encounter or the new method of medical decision making. This article discusses the optimal ways to document and code for inpatient hospital and observation encounters after January 1, 2023.
PMID: 37039413
ISSN: 1538-6899
CID: 5456352
Episodic Facial Paresis-An Isolated Presenting Symptom of Multiple Sclerosis
Varelas, Antonios N; Dickstein, Leah; Eytan, Danielle F
PMID: 36757719
ISSN: 2168-619x
CID: 5462192
White matter hyperintensities in former American football players
Alosco, Michael L; Tripodis, Yorghos; Baucom, Zachary H; Adler, Charles H; Balcer, Laura J; Bernick, Charles; Mariani, Megan L; Au, Rhoda; Banks, Sarah J; Barr, William B; Wethe, Jennifer V; Cantu, Robert C; Coleman, Michael J; Dodick, David W; McClean, Michael D; McKee, Ann C; Mez, Jesse; Palmisano, Joseph N; Martin, Brett; Hartlage, Kaitlin; Lin, Alexander P; Koerte, Inga K; Cummings, Jeffrey L; Reiman, Eric M; Stern, Robert A; Shenton, Martha E; Bouix, Sylvain
INTRODUCTION/BACKGROUND:The presentation, risk factors, and etiologies of white matter hyperintensities (WMH) in people exposed to repetitive head impacts are unknown. We examined the burden and distribution of WMH, and their association with years of play, age of first exposure, and clinical function in former American football players. METHODS:A total of 149 former football players and 53 asymptomatic unexposed participants (all men, 45-74 years) completed fluid-attenuated inversion recovery magnetic resonance imaging, neuropsychological testing, and self-report neuropsychiatric measures. Lesion Segmentation Toolbox estimated WMH. Analyses were performed in the total sample and stratified by age 60. RESULTS:In older but not younger participants, former football players had greater total, frontal, temporal, and parietal log-WMH compared to asymptomatic unexposed men. In older but not younger former football players, greater log-WMH was associated with younger age of first exposure to football and worse executive function. DISCUSSION/CONCLUSIONS:In older former football players, WMH may have unique presentations, risk factors, and etiologies. HIGHLIGHTS/CONCLUSIONS:Older but not younger former football players had greater total, frontal, temporal, and parietal lobe white matter hyperintensities (WMH) compared to same-age asymptomatic unexposed men. Younger age of first exposure to football was associated with greater WMH in older but not younger former American football players. In former football players, greater WMH was associated with worse executive function and verbal memory.
PMID: 35996231
ISSN: 1552-5279
CID: 5331552
Thrombectomy versus Medical Management for Isolated Anterior Cerebral Artery Stroke: An International Multicenter Registry Study
Meyer, Lukas; Stracke, Paul; Broocks, Gabriel; Elsharkawy, Mohamed; Sporns, Peter; Piechowiak, Eike I; Kaesmacher, Johannes; Maegerlein, Christian; Hernandez Petzsche, Moritz Roman; Zimmermann, Hanna; Naziri, Weis; Abdullayev, Nuran; Kabbasch, Christoph; Diamandis, Elie; Thormann, Maximilian; Maus, Volker; Fischer, Sebastian; Möhlenbruch, Markus; Weyland, Charlotte S; Ernst, Marielle; Jamous, Ala; Meila, Dan; Miszczuk, Milena; Siebert, Eberhard; Lowens, Stephan; Krause, Lars Udo; Yeo, Leonard; Tan, Benjamin; Gopinathan, Anil; Arenillas-Lara, Juan F; Navia, Pedro; Raz, Eytan; Shapiro, Maksim; Arnberg, Fabian; Zeleňák, Kamil; Martínez-Galdámez, Mario; Alexandrou, Maria; Kastrup, Andreas; Papanagiotou, Panagiotis; Kemmling, André; Dorn, Franziska; Psychogios, Marios; Andersson, Tommy; Chapot, René; Fiehler, Jens; Hanning, Uta
Background Evidence supporting a potential benefit of thrombectomy for distal medium vessel occlusions (DMVOs) of the anterior cerebral artery (ACA) is, to the knowledge of the authors, unknown. Purpose To compare the clinical and safety outcomes between mechanical thrombectomy (MT) and best medical treatment (BMT) with or without intravenous thrombolysis for primary isolated ACA DMVOs. Materials and Methods Treatment for Primary Medium Vessel Occlusion Stroke, or TOPMOST, is an international, retrospective, multicenter, observational registry of patients treated for DMVO in daily practice. Patients treated with thrombectomy or BMT alone for primary ACA DMVO distal to the A1 segment between January 2013 and October 2021 were analyzed and compared by one-to-one propensity score matching (PSM). Early outcome was measured by the median improvement of National Institutes of Health Stroke Scale (NIHSS) scores at 24 hours. Favorable functional outcome was defined as modified Rankin scale scores of 0-2 at 90 days. Safety was assessed by the occurrence of symptomatic intracerebral hemorrhage and mortality. Results Of 154 patients (median age, 77 years; quartile 1 [Q1] to quartile 3 [Q3], 66-84 years; 80 men; 94 patients with MT; 60 patients with BMT) who met the inclusion criteria, 110 patients (median age, 76 years; Q1-Q3, 67-83 years; 50 men; 55 patients with MT; 55 patients with BMT) were matched. DMVOs were in A2 (82 patients; 53%), A3 (69 patients; 45%), and A3 (three patients; 2%). After PSM, the median 24-hour NIHSS point decrease was -2 (Q1-Q3, -4 to 0) in the thrombectomy and -1 (Q1-Q3, -4 to 1.25) in the BMT cohort (P = .52). Favorable functional outcome (MT vs BMT, 18 of 37 [49%] vs 19 of 39 [49%], respectively; P = .99) and mortality (MT vs BMT, eight of 37 [22%] vs 12 of 39 [31%], respectively; P = .36) were similar in both groups. Symptomatic intracranial hemorrhage occurred in three (2%) of 154 patients. Conclusion Thrombectomy appears to be a safe and technically feasible treatment option for primary isolated anterior cerebral artery occlusions in the A2 and A3 segment with clinical outcomes similar to best medical treatment with and without intravenous thrombolysis. © RSNA, 2023 Supplemental material is available for this article. See also the editorial by Zhu and Wang in this issue.
PMID: 36786705
ISSN: 1527-1315
CID: 5466762
Returning integrated genomic risk and clinical recommendations: The eMERGE study
Linder, Jodell E; Allworth, Aimee; Bland, Harris T; Caraballo, Pedro J; Chisholm, Rex L; Clayton, Ellen Wright; Crosslin, David R; Dikilitas, Ozan; DiVietro, Alanna; Esplin, Edward D; Forman, Sophie; Freimuth, Robert R; Gordon, Adam S; Green, Richard; Harden, Maegan V; Holm, Ingrid A; Jarvik, Gail P; Karlson, Elizabeth W; Labrecque, Sofia; Lennon, Niall J; Limdi, Nita A; Mittendorf, Kathleen F; Murphy, Shawn N; Orlando, Lori; Prows, Cynthia A; Rasmussen, Luke V; Rasmussen-Torvik, Laura; Rowley, Robb; Sawicki, Konrad Teodor; Schmidlen, Tara; Terek, Shannon; Veenstra, David; Velez Edwards, Digna R; Absher, Devin; Abul-Husn, Noura S; Alsip, Jorge; Bangash, Hana; Beasley, Mark; Below, Jennifer E; Berner, Eta S; Booth, James; Chung, Wendy K; Cimino, James J; Connolly, John; Davis, Patrick; Devine, Beth; Fullerton, Stephanie M; Guiducci, Candace; Habrat, Melissa L; Hain, Heather; Hakonarson, Hakon; Harr, Margaret; Haverfield, Eden; Hernandez, Valentina; Hoell, Christin; Horike-Pyne, Martha; Hripcsak, George; Irvin, Marguerite R; Kachulis, Christopher; Karavite, Dean; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Korf, Bruce; Kottyan, Leah; Kullo, Iftikhar J; Larkin, Katie; Liu, Cong; Malolepsza, Edyta; Manolio, Teri A; May, Thomas; McNally, Elizabeth M; Mentch, Frank; Miller, Alexandra; Mooney, Sean D; Murali, Priyanka; Mutai, Brenda; Muthu, Naveen; Namjou, Bahram; Perez, Emma F; Puckelwartz, Megan J; Rakhra-Burris, Tejinder; Roden, Dan M; Rosenthal, Elisabeth A; Saadatagah, Seyedmohammad; Sabatello, Maya; Schaid, Dan J; Schultz, Baergen; Seabolt, Lynn; Shaibi, Gabriel Q; Sharp, Richard R; Shirts, Brian; Smith, Maureen E; Smoller, Jordan W; Sterling, Rene; Suckiel, Sabrina A; Thayer, Jeritt; Tiwari, Hemant K; Trinidad, Susan B; Walunas, Theresa; Wei, Wei-Qi; Wells, Quinn S; Weng, Chunhua; Wiesner, Georgia L; Wiley, Ken; ,; Peterson, Josh F
PURPOSE:Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. METHODS:To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. RESULTS:GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022. CONCLUSION:Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.
PMCID:10085845
PMID: 36621880
ISSN: 1530-0366
CID: 5710612
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
Shafique, Anum; Arif, Beenish; Chu, Mary Lynn; Moran, Ellen; Hussain, Tooba; Zamora, Francisca Millan; Wohler, Elizabeth; Sobreira, Nara; Klein, Christine; Lohmann, Katja; Naz, Sadaf
BACKGROUND:Dystonia involves repetitive movements and muscle contractions leading to abnormal postures. We investigated patients in two families, DYAF11 and M, exhibiting dystonic or involuntary movement disorders. METHODS:specific transcripts were analysed from participants' blood samples in Family DYAF11 after cloning of gene-specific cDNA. RESULTS:c.8+1G>T allele, an aberrant alternative acceptor splice-site located within exon 2 was used in a subset of the transcripts, creating a frameshift in the open reading frame. Exome sequencing in Family M revealed a rare missense variant c.242C>T, p.(Ala81Val), which affected a conserved amino acid. CONCLUSIONS:transcripts, raising the possibility to develop treatment by understanding the disease mechanism.
PMID: 36002240
ISSN: 1468-6244
CID: 5338252
Interactive mobile application for Parkinson's disease deep brain stimulation (MAP DBS): An open-label, multicenter, randomized, controlled clinical trial
Duffley, Gordon; Szabo, Aniko; Lutz, Barbara J; Mahoney-Rafferty, Emily C; Hess, Christopher W; Ramirez-Zamora, Adolfo; Zeilman, Pamela; Foote, Kelly D; Chiu, Shannon; Pourfar, Michael H; Goas Cnp, Clarisse; Wood, Jennifer L; Haq, Ihtsham U; Siddiqui, Mustafa S; Afshari, Mitra; Heiry, Melissa; Choi, Jennifer; Volz, Monica; Ostrem, Jill L; San Luciano, Marta; Niemann, Nicki; Billnitzer, Andrew; Savitt, Daniel; Tarakad, Arjun; Jimenez-Shahed, Joohi; Aquino, Camila C; Okun, Michael S; Butson, Christopher R
INTRODUCTION:Deep brain stimulation (DBS) is an effective treatment for Parkinson's disease (PD), but its efficacy is tied to DBS programming, which is often time consuming and burdensome for patients, caregivers, and clinicians. Our aim is to test whether the Mobile Application for PD DBS (MAP DBS), a clinical decision support system, can improve programming. METHODS:We conducted an open-label, 1:1 randomized, controlled, multicenter clinical trial comparing six months of SOC standard of care (SOC) to six months of MAP DBS-aided programming. We enrolled patients between 30 and 80 years old who received DBS to treat idiopathic PD at six expert centers across the United States. The primary outcome was time spent DBS programming and secondary outcomes measured changes in motor symptoms, caregiver strain and medication requirements. RESULTS:We found a significant reduction in initial visit time (SOC: 43.8 ± 28.9 min n = 37, MAP DBS: 27.4 ± 13.0 min n = 35, p = 0.001). We did not find a significant difference in total programming time between the groups over the 6-month study duration. MAP DBS-aided patients experienced a significantly larger reduction in UPDRS III on-medication scores (-7.0 ± 7.9) compared to SOC (-2.7 ± 6.9, p = 0.01) at six months. CONCLUSION:MAP DBS was well tolerated and improves key aspects of DBS programming time and clinical efficacy.
PMID: 36966051
ISSN: 1873-5126
CID: 5463012
Metabolomic, proteomic, and transcriptomic changes in adults with epilepsy on modified Atkins diet
Leitner, Dominique F; Siu, Yik; Korman, Aryeh; Lin, Ziyan; Kanshin, Evgeny; Friedman, Daniel; Devore, Sasha; Ueberheide, Beatrix; Tsirigos, Aristotelis; Jones, Drew R; Wisniewski, Thomas; Devinsky, Orrin
OBJECTIVE:High-fat and low-carbohydrate diets can reduce seizure frequency in some treatment-resistant epilepsy patients, including the more flexible modified Atkins diet (MAD), which is more palatable, mimicking fasting and inducing high ketone body levels. Low-carbohydrate diets may shift brain energy production, particularly impacting neuron- and astrocyte-linked metabolism. METHODS:We evaluated the effect of short-term MAD on molecular mechanisms in adult epilepsy patients from surgical brain tissue and plasma compared to control participants consuming a nonmodified higher carbohydrate diet (n = 6 MAD, mean age = 43.7 years, range = 21-53, diet for average 10 days; n = 10 control, mean age = 41.9 years, range = 28-64). RESULTS: = .48). Brain proteomics and RNAseq identified few differences, including 2.75-fold increased hippocampal MT-ND3 and trends (p < .01, false discovery rate > 5%) in hippocampal nicotinamide adenine dinucleotide (NADH)-related signaling pathways (activated oxidative phosphorylation and inhibited sirtuin signaling). SIGNIFICANCE/CONCLUSIONS:Short-term MAD was associated with metabolic differences in plasma and resected epilepsy brain tissue when compared to control participants, in combination with trending expression changes observed in hippocampal NADH-related signaling pathways. Future studies should evaluate how brain molecular mechanisms are altered with long-term MAD in a larger cohort of epilepsy patients, with correlations to seizure frequency, epilepsy syndrome, and other clinical variables. [Clinicaltrials.gov NCT02565966.].
PMID: 36775798
ISSN: 1528-1167
CID: 5448012