Scientific Advisory Board Research Articles

Assessing Sex Differences in Individuals with Tourette Syndrome and Persistent Motor or Vocal Tic Disorder (S42.009)

<h3>Objective:</h3> To examine sex differences in Tourette Syndrome (TS) and Persistent Motor or Vocal Tic Disorder (PMVT) individuals. <h3>Background:</h3> TS and PMVT are more prevalent in males compared to females. Females with TS may have a delayed diagnosis and more complex tics than males. Obsessive-compulsive disorder (OCD) is more prevalent in females; attention-deficit hyperactivity disorder (ADHD) is more prevalent in males. This study analyzes sex differences in outcomes among TS and PMVT. <h3>Design/Methods:</h3> Data from 2405 individuals (N=2109 TS; N=168 PMVT) from the Tourette Association of America International Consortium for Genetics were analyzed to explore the relationship between sex and TS or PMVT outcomes: 1) age at tic onset; 2) time-to-diagnosis; 3) tic severity; and 4) comorbidity rates. Regression models adjusted for age, sex, and family relationships. <h3>Results:</h3> Females with TS (25.5% of the sample) compared to males had a later age of symptom onset (6.5±2.8 vs. 6.0±2.7; p=0.001), and a longer time-to-diagnosis [3 (1,7) vs. 2 (1,5), p=0.01]. OCD was more prevalent in females (55% vs. 48.7%; p=0.01) as well as ADHD (61.1% vs. 55.7%; p&lt;0.001). After adjusting for sex, age, and family relationships, females had lower odds of ADHD [0.6 (0.5, 0.7)]. Females with PMVT (42.9% of the sample) compared to males had an earlier age of symptom onset (7.9±3.3 vs. 8.9±3.7; p=0.05). OCD was more prevalent in females (41.9% vs. 22.2%; p&lt;0.001), but not ADHD. Results were significant after adjusting for sex, age, and family relationships. <h3>Conclusions:</h3> Females with TS may be clinically different than males with TS. ADHD appeared more prevalent in females with TS in univariate analyses, but less prevalent in regression models. In contrast, females with PMVT appear similar compared to males with PMVT. Age of symptom onset is later in females with TS, but earlier in females with PMVT. Meta-analyses may help to better understand these findings. <b>Disclosure:</b> The institution of Dr. Dy-Hollins has received research support from CNCDP-K12. Lori B. Chibnik has nothing to disclose. Lisa Osiecki has nothing to disclose. Dr. Sharma has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wiley. Dr. Sharma has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wiley. Dr. Sharma has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Cambridge Expert Witness. The institution of Dr. Sharma has received research support from NIH. The institution of Carol Mathews has received research support from NIH. Carol Mathews has received publishing royalties from a publication relating to health care. The institution of Dr. Scharf has received research support from the TLC Foundation for Body-Focused Repetitive Behaviors. Dr. Scharf has received personal compensation in the range of $500-$4,999 for serving as a Speaker for a TAA/CDC Family Day Symposium with the Tourette Association of America. Dr. Scharf has a non-compensated relationship as a Scientific Advisory Board Member with the Tourette Association of America that is relevant to AAN interests or activities.

Design of a Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Nipocalimab in Participants with Active Idiopathic Inflammatory Myopathies (SPIREA) (P10-5.007)

Design of a Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Nipocalimab in Participants with Active Idiopathic Inflammatory Myopathies (SPIREA) (P10-5.007)

Serum Glial Fibrillary Acidic Protein compared with Neurofilament Light Chain as Biomarker for Multiple Sclerosis Disease Progression (P5-3.016)

Serum Glial Fibrillary Acidic Protein compared with Neurofilament Light Chain as Biomarker for Multiple Sclerosis Disease Progression (P5-3.016)

Black and Hispanic Individuals with Tourette Syndrome are Under-Represented in Specialty Clinics (P11-11.016)

<h3>Objective:</h3> To examine the racial and ethnic distribution of Tourette Syndrome (TS) individuals presenting for care in the Massachusetts General Brigham System (MGB). <h3>Background:</h3> TS is thought to occur with similar frequencies across racial and ethnic groups. However, we observed a low representation of racial and ethnic minority TS individuals in our specialty clinic at the MGB Tourette Syndrome Center of Excellence (TS-COE). We hypothesized that Black and Hispanic TS individuals are under-represented in specialty clinics compared to white and Non-Hispanic individuals. <h3>Design/Methods:</h3> We extracted patient registry aggregate data for individuals ages 4–21 years who were seen in outpatient Pediatrics, Pediatric Neurology, and TS-COE clinics between 01/01/2015–11/17/2021 with a TS diagnosis (ICD-9:307.23; ICD-10:F95.2) and compared to all individuals seen for any type of outpatient clinical care within the MGB Healthcare System. Chi-square goodness-of-fit testing was performed to examine the racial and ethnic proportion of TS individuals seen in the specialty clinics and across MGB (reference group). Statistical significance was set at p=0.05 level for overall group comparisons and at p=0.0125 (race) and p=0.025 (ethnicity) for post-hoc testing. <h3>Results:</h3> All group comparisons were significant for race (p-values &lt;0.05). For ethnicity, group comparisons were significant for MGB vs. Pediatrics (p=0.01) and MGB vs. TS-COE (p=0.03). The proportion of: 1) Black TS individuals was lower in all clinics than in MGB, 2) white TS individuals was higher in the TS-COE (89.6%) compared to MGB (74.6%), and 3) Hispanic TS individuals was higher in Pediatrics (9.3%), but lower in the TS-COE (2.6%) when compared to those within MGB (5.2%). <h3>Conclusions:</h3> A more marked disparity is seen with lower proportions for Black TS individuals than Hispanic TS individuals across the clinics and in the TS-COE. Our findings illustrate the need for further research to identify relevant multi-level barriers to care for Black and Hispanic TS individuals. <b>Disclosure:</b> The institution of Dr. Dy-Hollins has received research support from CNCDP-K12. Lori B. Chibnik has nothing to disclose. Mr. Realbuto has nothing to disclose. Dr. Rao has received research support from National Institute for Health. Dr. Rao has received research support from National Institute for Drug Abuse. Dr. Sharma has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wiley. Dr. Sharma has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wiley. Dr. Sharma has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Cambridge Expert Witness. The institution of Dr. Sharma has received research support from NIH. Elyse Park has received publishing royalties from a publication relating to health care. The institution of Carol Mathews has received research support from NIH. Carol Mathews has received publishing royalties from a publication relating to health care. The institution of Dr. Scharf has received research support from the TLC Foundation for Body-Focused Repetitive Behaviors. Dr. Scharf has received personal compensation in the range of $500-$4,999 for serving as a Speaker for a TAA/CDC Family Day Symposium with the Tourette Association of America. Dr. Scharf has a non-compensated relationship as a Scientific Advisory Board Member with the Tourette Association of America that is relevant to AAN interests or activities.

Genetic Variants in Iron Metabolism impact Disease Progression in MS through HIF1A (S9.006)

Genetic Variants in Iron Metabolism impact Disease Progression in MS through HIF1A (S9.006)

P186 Long-term safety of ixekizumab in adult patients with psoriasis, psoriatic arthritis, and axial spondyloarthritis

P186 Long-term safety of ixekizumab in adult patients with psoriasis, psoriatic arthritis, and axial spondyloarthritis

A model for crowdsourcing high-impact research questions for Castleman disease and other rare diseases

BackgroundThere are approximately 10,000 rare diseases that affect around 30,000,000 individuals in the U.S.A., most of which do not have an FDA-approved treatment. This fact highlights the failure of traditional research approaches to overcome the unique challenges of developing rare disease treatments. The Castleman Disease Collaborative Network was founded in 2012 to advance research and treatments for Castleman disease, a rare and deadly disease that involves the immune system attacking the body’s vital organs for an unknown cause. It has spearheaded a novel strategy for advancing biomedical research, the Collaborative Network Approach. This approach consists of eight steps, one of which is to identify and prioritize high-impact research questions through crowdsourcing ideas from the entire community of stakeholders: patients, loved ones, physicians, and researchers. Rather than hoping that the right researcher will apply for the right research project at the right time, crowdsourcing high-priority research projects into a research strategy ensures that the most high-impact, patient-centered studies are prioritized. The Castleman Disease Collaborative Network launched an initiative in 2021 to systematically generate this list of community-directed studies to focus Castleman disease research efforts.ResultsThe Castleman Disease Collaborative Network was able to successfully create a patient-centered research agenda through engaging the entire community of stakeholders. The community contributed important questions about Castleman disease, which were prioritized and reviewed by our Scientific Advisory Board, and the result was a finalized list of studies that address these prioritized questions. We were also able to generate a best practices list which can serve as a model that can be utilized for other rare diseases.ConclusionCreating a patient-centered research agenda through crowdsourcing research ideas from the community is one of the most important ways that the Castleman Disease Collaborative Network operationalizes its commitment to keeping patients at the center of research and we hope that by sharing these insights we can assist other rare disease organizations to pursue a patient-centric approach.

Can we have our cake and eat it too? Not when it comes to antiobesity medication prices

In the past 36 months, Eric A. Finkelstein has received support for serving on the WW Scientific Advisory Board and an education grant from Novo Nordisk, unrelated to the present work. Junxing Chay declared no conflict of interest.

Drug-delivery research and much more: interview with Dan Peer.

Drug-delivery research and much more: interview with Dan Peer.

‘Cannabis use in gynaecology: A bad idea’

The opposing piece penned by Kent highlights the common conflation of illicit and medicinal cannabis use.1 Indeed, cannabis is one of the most widely used illicit drugs world-wide, and a great deal of research has focused on the harms associated with such use; however, applying this same logic to medicinal cannabis is like comparing street-sourced heroin to that of pharmaceutical opioids. The composition, dose, intent, safety, and medical oversight all fundamentally differ between illicit and medicinal consumers. It is important to remember that medicinal cannabis is not just delta9-tetrahydrocannabinol (THC), and like other pharmaceutical drugs, product composition and dose are important variables to be considered. Most people who utilise illicit cannabis recreationally do so for its mind-altering properties (commonly referred to as being ‘high’), which is due to significant levels of THC, and which is why illicit cannabis has been bred for the last 50 years to contain high concentrations of THC, the main intoxicating cannabinoid, with little to no attention paid to other cannabinoids. Most, if not all, illicit cannabis consumed in Australia and New Zealand is unlikely to have any accurate indication of the level of THC, and the lack of any quality control precludes any consistency between ‘batches’, thus making consistent dosing impossible. Conversely, medicinal cannabis undergoes rigorous testing procedures that are required across all dosage forms in Australia, including microbial limits, cannabinoid standardisation, detection of foreign matter, aflatoxins, ochratoxin A, pesticide and solvent residues, and the presence of heavy metals as outlined in the Therapeutic Goods Order 93 (Standard for Medicinal Cannabis).2 Medicinal cannabis, like any other prescription medication, is prescribed under the supervision of a medical practitioner. Given the pharmacokinetic and pharmacodynamic interactions observed with cannabis,3 medicinal cannabis when prescribed by a doctor can reduce side-effects and drug interactions when compared to illicit usage. The fundamental difference with medicinal cannabis patients compared to recreational users is that they are primarily seeking symptom amelioration for predominantly chronic conditions, with many patients viewing feeling ‘high’ as an unwanted side-effect rather than a desired outcome.4 Therefore, while medicinal cannabis products can and do include THC, high-potency THC-only products are rarely used by clinicians, especially as a first line treatment. Legal medicinal products have also been standardised so that the exact ratio of various cannabinoids is known, allowing for accurate dosing, and medicinal options include products such as cannabidiol (CBD) isolates that contain no THC at all, and which lacks any intoxicating effects. Unwanted impairment can also be managed by careful dose titration of THC-containing products,5 as can the choice of products containing other cannabinoids in addition to, or instead of THC, such as CBD. This provides doctors a range of options to tailor treatment to individual patient symptoms and preferences. We appreciate that Kent has given us an opportunity to address these misconceptions so clinicians in the future can undertake informed clinical decision making with accurate information, rather than rehashing safety concerns rooted in the era of Reefer Madness. Open access publishing facilitated by Western Sydney University, as part of the Wiley - Western Sydney University agreement via the Council of Australian University Librarians. No external funding was provided. MA and JS: MA has previously received funding from Canopy related to medicinal cannabis and primary dysmenorrhea, outside the submitted work. JS is employed as the chief scientific officer for Australian Natural Therapeutics Group. JS also sits on the board of the Australian Medicinal Cannabis Association, advisory group for the Society of Cannabis Clinicians (Australian Chapter) and the scientific advisory board for United in Compassion, all in a pro bono capacity.

Lecanamab Ushers in a New Era of Anti-Amyloid Therapy for Alzheimer's Disease.

Erik S. Musiek has received research funding from Eisai Pharmaceuticals for preclinical work on sleep that is unrelated to lecanemab or any other antibody therapy, and was approved through a sponsored research agreement with Washington University. Erik S. Musiek has received no personal income related to this topic and has no financial stake in these companies. Eric McDade receives research funding from Eisai Pharmaceuticals for Clinical Trials in the Dominantly Inherited Alzheimer Network Trials Unit testing lecanemab and E2814; he has co-authored a recent publication with Eisai employees based on lecanemab phase II data and has presented data from the phase II studies at a scientific conference. Eric McDade has received research funding form Eli Lilly and Roche-Genentech for Clinical Trials in the Dominantly Inherited Alzheimer Network Trials Unit testing solanezumab and gantenerumab. He has received no personal income related to these activities and has no financial stake in these companies. David M. Holtzman is on the scientific advisory board of C2N diagnostics and has equity. David M. Holtzman is on the scientific advisory board of Denali Therapeutics, Genentech, and Cajal Therapeutics, and consults for Alector.

Assessing preparedness for Alzheimer disease-modifying therapies in Australasian health care systems.

Assessing preparedness for Alzheimer disease-modifying therapies in Australasian health care systems.

Regulatory assessment of nano-enabled health products in public health interest. Position of the scientific advisory board of the French National Agency for the Safety of Medicines and Health Products.

Nanomaterials are present in a wide variety of health products, drugs and medical devices and their use is constantly increasing, varying in terms of diversity and quantity. The topic is vast because it covers nanodrugs, but also excipients (that includes varying proportions of NMs) and medical devices (with intended or not-intended (by-products of wear) nanoparticles). Although researchers in the field of nanomedicines in clinical research and industry push for clearer definitions and relevant regulations, the endeavor is challenging due to the enormous diversity of NMs in use and their specific properties. In addition, regulatory hurdles and discrepancies are often cited as obstacles to the clinical development of these innovative products. The scientific council of the Agence Nationale de Sécurité du Médicament et des produits de santé (ANSM) undertook a multidisciplinary analysis encompassing fundamental, environmental and societal dimensions with the aim of identifying topics of interest for regulatory assessment and surveillance. This analysis allowed for proposing some recommendations for approximation and harmonization of international regulatory practices for the assessment of the risk/benefit balance of these products, considering as well the public expectations as regards efficacy and safety of nanomaterials used in Health products, in terms of human and environmental health.

2nd Workshop in Microbial Molecular Biology

2nd Workshop in Microbial Molecular Biology

Editorial introductions.

Current Opinion in Nephrology and Hypertension was launched in 1992. It is part of a successful series of review journals whose unique format is designed to provide a systematic and critical assessment of the literature as presented in the many primary journals. The field of nephrology and hypertension is divided into 12 sections that are each reviewed once a year. Each section is assigned a Section Editor, a leading authority in the area, who identifies the most important topics at that time. Here we are pleased to introduce the Section Editors for this issue. SECTION EDITORS Nancy J. BrownNancy J. BrownNancy J. Brown, MD is the Jean and David W. Wallace Dean of Yale School of Medicine, USA, and the C.N.H. Long Professor of Internal Medicine. Prior to assuming the role of dean at Yale in 2020, Dr Brown served for nine years as the Chair of the Department of Medicine at Vanderbilt University Medical Centre, Tennessee, USA, where she established herself as a national leader in the development of infrastructure to promote the career success of physician-scientists. She founded the Vanderbilt Master of Science in Clinical Investigation program in 2000, served as Associate Dean for Clinical and Translational Scientist Development at Vanderbilt from 2006 to 2010, and as Director of the Division of Clinical Pharmacology from 2009 to 2010. Dr Brown's NIH-funded research focuses on cardiovascular pharmacology and vascular biology in humans. She is particularly interested in understanding the mechanisms of anti-hypertensive and anti-diabetic drugs that are peptidase inhibitors, including the angiotensin-converting enzyme inhibitors, dipeptidyl peptidase 4 inhibitors, and neprilysin inhibitors. Her group has elucidated not only how these drugs decrease inflammation, enhance fibrinolysis (the breakdown of blood clots), and improve glucose homeostasis, but also how they interact with one another and sometimes cause side effects. This understanding leads to optimizing outcomes in patients with hypertension and diabetes. Dr Brown received her A. B. in Molecular Biophysics and Biochemistry from Yale and her MD from Harvard Medical School, USA. She completed her clinical training and a fellowship in clinical pharmacology at Vanderbilt University, Tennessee, USA. Dr Brown is a Fellow of the American Association for the Advancement of Science and a member of the American Society of Clinical Investigation, the Association of American Physicians, the National Academy of Medicine, and the American Academy of Arts and Sciences. She is a Master of the American College of Physicians and a fellow of the Royal College of Physicians. She has served on the National Advisory Research Resources Council and the National Heart, Lung, and Blood Advisory Council of the National Institutes of Health. Dr Brown currently serves on the visiting committee for Harvard Medical School and the External Advisory Board for the Harvard-MIT Health Sciences and Technology program. She is a member of the Scientific Advisory Board of Alnylam Pharmaceuticals. David S. GoldfarbDavid S. GoldfarbDavid S. Goldfarb, MD is Professor of Medicine and Physiology at New York University Grossman School of Medicine, USA. He is the Clinical Chief of the Nephrology Division at New York University Langone Health, and Chief of the Nephrology Section and Director of the Hemodialysis Unit at the New York VA Medical Center in Manhattan, USA. He serves as the Director of the Kidney Stone Prevention Programs at NYU Langone and at New York VA Medical Center, USA. He graduated from Yale College and the Yale School of Medicine, USA, and trained in Internal Medicine at New York VA and New York University, USA, and Nephrology at New York University, USA. He teaches first year renal physiology and renal pathophysiology at NYU, where he has been Teacher of the Year on 3 occasions. Dr Goldfarb is an internationally renowned expert in kidney stone prevention. He is a principal investigator of the Rare Kidney Stone Consortium. Dr Goldfarb is the former President of the NY Society of Nephrology and of the ROCK Society (Research on Calculus Kinetics). He was vice-chair of the American Urological Association's guideline panel, representing the American Society of Nephrology, on Medical Management of Kidney Stones. He is a co-inventor of Moonstone, the first high citrate beverage. He was selected as “Stone Crusher of the Year” in 2014 by the Oxalosis and Hyperoxaluria Foundation and “Nephrologist of the Year” in 2016 by the American Kidney Fund. He has had three calcium oxalate stones.

Effectiveness of a facilitation programme using a mobile application for initiating advance care planning discussions between patients with advanced cancer and healthcare providers: protocol for a randomised controlled trial (J-SUPPORT 2104)

IntroductionTimely implementation of the discussion process of advance care planning (ACP) is recommended. The communication attitude of healthcare providers is critical in ACP facilitation; thus, improving their communication attitudes may...

Editorial Comment.

No AccessJournal of UrologyTranslational Research Article23 Feb 2023Editorial CommentThis article comments on the following:Detection of Bacteria in Bladder Mucosa of Adult Females Indira U. Mysorekar Indira U. MysorekarIndira U. Mysorekar Department of Medicine, Section of Infectious Diseases and Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, Texas More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003189.01AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack Citations ShareFacebookLinked InTwitterEmail "Editorial Comment." The Journal of Urology, Publish Ahead of Print, pp. – REFERENCES 1. Detection of bacteria in bladder mucosa of adult females. J Urol.2023; 209(5):000-000. Google Scholar 2. . Effects of aging on urinary tract epithelial homeostasis and immunity. Dev Biol.2023; 493:29-39. Crossref, Medline, Google Scholar 3. Direct detection of tissue-resident bacteria and chronic inflammation in the bladder wall of postmenopausal women with recurrent urinary tract infection. J Mol Biol.2019; 431(21):4368-4379. Crossref, Medline, Google Scholar 4. . Bladder mucosal Cystitis cystica lesions are tertiary lymphoid tissues that correlate with recurrent UTI frequency in postmenopausal women. J Urol.2023. Link, Google Scholar Submitted August 11, 2022; accepted January 10, 2023; published 000. Support: This work was supported by NIH grants R01 AG052494, P20 DK119840, and R56 AG064634 to IUM. Conflict of Interest: IUM: Scientific advisory board: Luca Biologics. © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetailsRelated articlesJournal of Urology19 Jan 2023Detection of Bacteria in Bladder Mucosa of Adult Females Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Indira U. Mysorekar Department of Medicine, Section of Infectious Diseases and Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, Texas More articles by this author Expand All Submitted August 11, 2022; accepted January 10, 2023; published 000. Support: This work was supported by NIH grants R01 AG052494, P20 DK119840, and R56 AG064634 to IUM. Conflict of Interest: IUM: Scientific advisory board: Luca Biologics. Advertisement PDF downloadLoading ...

Mutant NPM1: Nuclear export and the mechanism of leukemogenesis.

Mutant NPM1: Nuclear export and the mechanism of leukemogenesis.

Postpartum-onset obsessive-compulsive disorder: A harbinger of bipolar disorder.

Postpartum-onset obsessive-compulsive disorder: A harbinger of bipolar disorder.

A Limited Effect of Chronic Renal Insufficiency on the Colon Microbiome.

A Limited Effect of Chronic Renal Insufficiency on the Colon Microbiome.