2,689 results match your criteria: "PA C.L.; Rheumatology Clinic[Affiliation]"
A Multi-Institutional Study on Ultrasound Image Analysis for Staging HBV-Derived Liver Fibrosis: A Potential Noninvasive Alternative to Liver Stiffness Measurement.
Clin Transl Gastroenterol
December 2024
Hangzhou Xixi Hospital, Hangzhou Sixth People's Hospital, Hangzhou Xixi Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.
Introduction: Liver stiffness measurement is principal for staging liver fibrosis but not included in routine examinations. We investigated whether comparable diagnostic performance can be achieved by mining ultrasound images and developing a novel serum index (NSI).
Methods: Texture features were extracted from ultrasound images.
Comprehensive Genomic Profiling in Non-Myeloid Hematologic Malignancies Identifies Variants That Can Alter Clinical Practice.
Hematol Rep
September 2024
Division of Hematologic Malignancies & Cellular Therapy, Department of Medicine, Duke University School of Medicine, Durham, NC 27705, USA.
Article Synopsis
- Comprehensive genomic profiling (CGP) is commonly used to guide treatment for solid tumors and myeloid neoplasms, but its effectiveness for lymphoid and histiocytic cancers is less established.
- In a study of 105 CGP samples from patients with non-myeloid hematologic malignancies, 88% showed pathogenic mutations, with 72% of patients having mutations that could influence their treatment or prognosis.
- The study found that CGP led to a significant change in management for 22% of patients, particularly in cases where resistance variants were identified, affecting treatment decisions in nearly 70% of those cases.
The use of 7T MRI in multiple sclerosis: review and consensus statement from the North American Imaging in Multiple Sclerosis Cooperative.
Brain Commun
October 2024
Radiology, Pathology and Laboratory Medicine, Physics and Astronomy, International Collaboration on Repair Discoveries, University of British Columbia, Vancouver, Canada, BC V6T 1Z4.
The use of ultra-high-field 7-Tesla (7T) MRI in multiple sclerosis (MS) research has grown significantly over the past two decades. With recent regulatory approvals of 7T scanners for clinical use in 2017 and 2020, the use of this technology for routine care is poised to continue to increase in the coming years. In this context, the North American Imaging in MS Cooperative (NAIMS) convened a workshop in February 2023 to review the previous and current use of 7T technology for MS research and potential future research and clinical applications.
View Article and Find Full Text PDFThe Critical Shoulder Angle as a Highly Specific Predictor of a Full-Thickness Rotator Cuff Tear: A Case-Control Study.
Am J Sports Med
November 2024
Department of Orthopaedic Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Background: The critical shoulder angle (CSA) has become an important topic of study in patients with rotator cuff tears (RCTs). However, there are conflicting data on whether the CSA can differentiate between patients with normal shoulder pathology and full-thickness RCTs on shoulder radiographs.
Purpose/hypothesis: The purpose of this study was to define the relationship between full-thickness RCTs and the CSA.
Safety of Kidney Transplantation from Donors with HIV.
N Engl J Med
October 2024
From the Departments of Medicine (C.M.D., T.L., D.B., D.O., Y.E., F.N., A.D.R.), Surgery (N.D.), and Pathology (S.B., A.A.R.T.), Johns Hopkins University School of Medicine, Baltimore, the Department of Medicine, University of Maryland School of Medicine (J.B.), and the National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda (N.W., E.B., J.O., A.D.R.) - all in Maryland; the Department of Population Health, New York University (NYU) Grossman School of Medicine (A.M., D.L.S.), the Recanati-Miller Transplantation Institute, Mount Sinai Hospital (S.F.), the Department of Medicine, Icahn School of Medicine at Mount Sinai (M.M.R.), NYU Langone Transplant Institute (S.A.M., D.L.S.), the Department of Medicine, Columbia University Irving Medical Center (M.R.P.), and the Department of Medicine, Weill Cornell Medicine (C.B.S.) - all in New York; the Department of Medicine, Emory University, Atlanta (R.F.-M.); the Department of Medicine, Georgetown University, Washington, DC (A.G.); the Department of Surgery, University of California, San Francisco, San Francisco (P.S.), the Division of Infectious Diseases and Global Public Health, University of California, San Diego, La Jolla (S. Aslam), and the Department of Medicine, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (J.S.) - all in California; the Section of Transplant Nephrology, University of Alabama at Birmingham, Birmingham (S.M.); the Divisions of Infectious Diseases and Organ Transplantation, Northwestern University Feinberg School of Medicine (V.S.), and the Division of Infectious Diseases, Rush University Medical Center (C.A.Q.S.) - both in Chicago; the Division of Infectious Diseases, University of Miami Miller School of Medicine, Miami (M.I.M.); the Department of Medicine, Ochsner Health, New Orleans (J.H.); the Section of Infectious Diseases, Yale School of Medicine, New Haven, CT (M.M.); the Department of Medicine, University of Pittsburgh, Pittsburgh (G.H.), and the Department of Medicine, Perelman School of Medicine at the University of Pennsylvania (E.A.B.), and the Department of Medicine, Drexel University College of Medicine (K.R.), Philadelphia - all in Pennsylvania; the Department of Medicine, University of Texas Southwestern Medical Center (D.W.), and the Department of Medicine, Methodist Health System Clinical Research Institute (J.A.C.-L.) - both in Dallas; the Department of Medicine, Indiana University Health, Indianapolis (O.A.); the Department of Surgery, Massachusetts General Hospital, Boston (N.E.); the Department of Surgery, University of Arkansas for Medical Sciences, Little Rock (E.G.); and the Department of Medicine, University of Cincinnati College of Medicine, Cincinnati (S. Apewokin).
Article Synopsis
- Kidney transplantation from HIV-positive donors to HIV-positive recipients is a growing practice, initiated under a 2016 U.S. law, and is currently being evaluated for broader clinical implementation.
- An observational study involving 408 candidates at 26 U.S. centers assessed the safety and health outcomes of kidney transplants from both HIV-positive and HIV-negative donors to HIV-positive recipients, finding no significant difference in major health risks between the two donor groups.
- Results indicated similar long-term survival rates, graft success, and complication rates across both groups, although recipients of kidneys from HIV-positive donors showed a higher incidence of HIV breakthrough infections.
Extracellular RIPK3 Acts as a Damage-Associated Molecular Pattern to Exaggerate Cardiac Ischemia/Reperfusion Injury.
Circulation
November 2024
Institute of Cardiovascular Sciences, School of Basic Medical Sciences, Peking University Health Science Center (W. Zhang, J.Z., C.L., X.K., X.C., J.Y, H.Q., J.D., Y. Liu, Y. Li, E.D., Y.Z).
Article Synopsis
- Cardiac ischemia/reperfusion (I/R) injury is a significant concern for heart disease, but there's currently no effective treatment to minimize this type of heart damage.
- This study recruited patients with acute myocardial infarction to examine the impact of plasma RIPK3 levels before and after treatment, using both patient data and lab experiments on cells and mouse models.
- Elevated RIPK3 levels post-treatment were linked to worse outcomes, and experiments showed that RIPK3 worsens heart injury by triggering inflammation, suggesting its role as a damaging molecule that could be targeted for therapy.
Non-homogenous intratumor ionizing radiation doses synergize with PD1 and CXCR2 blockade.
Nat Commun
October 2024
Gustave Roussy, INSERM U1030, Université Paris-Saclay, Villejuif, France.
Article Synopsis
- The study investigates how different doses of radiotherapy (RT) affect the tumor immune environment and explores a strategy that combines low dose RT (LDRT) with high dose RT (HDRT) to enhance anti-tumor responses.
- Researchers conducted experiments on colorectal and breast cancer models in mice, finding that a technique called partial irradiation (PI) improved tumor control when paired with an immune treatment (anti-PD1).
- Results showed that PI reshaped immune cells in the tumor, increasing their ability to fight cancer, while also suggesting that adding a certain drug (CXCR2 antagonist) alongside RT and immunotherapy can enhance tumor control and survival rates.
The neuroendocrine transition in prostate cancer is dynamic and dependent on ASCL1.
Nat Cancer
November 2024
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Article Synopsis
- Lineage plasticity in cancer affects treatment effectiveness, and this study presents a new in vivo method to explore neuroendocrine lineage changes in prostate cancer progression.* -
- Researchers found that mouse prostate organoids with specific mutations form aggressive neuroendocrine prostate cancer (NEPC) when Rb1 is deleted, but only in the right in vivo environment, unlike traditional organoid cultures.* -
- The study shows that ASCL1 cells originate from KRT8 luminal cells and that losing Ascl1 in NEPC leads to temporary regression but later recurrence; however, deleting it before transplantation prevents lineage changes and results in more treatable adenocarcinomas.*
Interstitial Lung Abnormality: Narrative Review of the Approach to Diagnosis and Management.
Chest
October 2024
Division of Pulmonary and Critical Care Medicine, Lenox Hill Hospital, Northwell Health, New York NY. Electronic address:
Topic Importance: As interstitial lung abnormalities (ILAs) are increasingly recognized on imaging and in clinical practice, identification and appropriate management are critical. We propose an algorithmic approach to the identification and management of patients with ILAs.
Review Findings: The radiologist initially identifies chest CT scan findings suggestive of an ILA pattern and excludes findings that are not consistent with ILAs.
HTLV-1 infected T cells cause bone loss via small extracellular vesicles.
J Extracell Vesicles
October 2024
Division of Bone & Mineral Diseases, Musculoskeletal Research Center, Washington University School of Medicine, Saint Louis, Missouri, USA.
Adult T cell leukaemia (ATL), caused by infection with human T- lymphotropic virus type 1 (HTLV-1), is often complicated by hypercalcemia and osteolytic lesions. Therefore, we studied the communication between patient-derived ATL cells (ATL-PDX) and HTLV-1 immortalized CD4+ T cell lines (HTLV/T) with osteoclasts and their effects on bone mass in mice. Intratibial inoculation of some HTLV/T leads to a profound local decrease in bone mass similar to marrow-replacing ATL-PDX, despite the fact that few HTLV/T cells persisted in the bone.
View Article and Find Full Text PDFCTLA4 blockade abrogates KEAP1/STK11-related resistance to PD-(L)1 inhibitors.
Nature
November 2024
Department of Thoracic and Head and Neck Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Article Synopsis
- Dual immune checkpoint blockade (ICB) using CTLA4 and PD-(L)1 inhibitors shows improved anti-tumor effectiveness and immune toxicity compared to PD-(L)1 inhibitors alone in advanced non-small-cell lung cancer (NSCLC) patients.
- Patients with mutations in STK11 and/or KEAP1 genes benefit more from the combination treatment compared to those receiving only PD-(L)1 inhibitors, as shown in the POSEIDON trial.
- The loss of KEAP1 serves as a strong predictor for the success of dual ICB, as it leads to a more favorable outcome by changing the tumor's immune environment to better engage CD4 and CD8 T cells for anti-tumor activity. *
Rare variant contribution to the heritability of coronary artery disease.
Nat Commun
October 2024
The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Article Synopsis
- Whole genome sequencing (WGS) helps identify rare genetic variants that may explain the missing heritability of coronary artery disease (CAD) by analyzing 4,949 cases and 17,494 controls from the NHLBI TOPMed program.
- The study estimates that the heritability of CAD is around 34.3%, with ultra-rare variants contributing about 50%, especially those with low linkage disequilibrium.
- Functional annotations show significant enrichment of CAD heritability, highlighting the importance of ultra-rare variants and specific regulatory mechanisms in different cells as major factors influencing genetic risk for the disease.
A potent pan-sarbecovirus neutralizing antibody resilient to epitope diversification.
Cell
December 2024
Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA. Electronic address:
Article Synopsis
- - SARS-CoV-2 has evolved to evade current monoclonal antibodies (mAbs), emphasizing the need for more resilient treatments that can neutralize various viral strains.
- - A new human mAb called VIR-7229 has shown the ability to effectively neutralize multiple variants of SARS-CoV-2 and other related viruses, due to its unique targeting of a critical viral region known as the receptor-binding motif (RBM).
- - VIR-7229 demonstrates a high resistance to the emergence of virus escape mutants, making it a promising candidate for future therapies against evolving coronaviruses.
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
N Engl J Med
October 2024
From Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.) and Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School (C.N.D., D.A.W.), Boston, Bluebird Bio, Somerville (G.F.D., L.D., A.C.D., H.L.T.), and McNeil Pediatrics Consultancy, Sudbury (E.M.) - all in Massachusetts; the Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota (T.C.L., A.O.G., P.J.O.), and Midwest Radiology (D.J.L.) - both in Minneapolis; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (S.D.O., R.S., S.A.H.); University College London Great Ormond Street Hospital Institute of Child Health and Great Ormond Street Hospital NHS Trust, London (A.J.T., P.G.); INSERM, Université Paris-Saclay, Hôpital Kremlin-Bicêtre (P.A.), the Reference Center for Leukodystrophies, Hôpital Kremlin-Bicêtre, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay (C.S.), and Robert-Debre Hospital, GHU Nord-Université de Paris (J.-H.D.) - all in Paris; the Departments of Pediatric Oncology/Hematology/Hemostaseology (J.-S.K.) and Hematology, Cellular Therapy, Hemostaseology and Infectious Diseases (U.P.), University Hospital Leipzig, Leipzig, Germany; Instituto Neurogenia and Hospital Universitario Austral - both in Buenos Aires (H.A.); Women's and Children's Health Network and the University of Adelaide - both in Adelaide, SA, Australia (N.S.); ITACI/Instituto da Criança-Hospital das Clínicas da Universidade de São Paulo, Sao Paulo (J.F.F.); and Shape Therapeutics, Seattle (A.C.D.).
Background: Cerebral adrenoleukodystrophy is a severe form of X-linked adrenoleukodystrophy characterized by white-matter disease, loss of neurologic function, and early death. Elivaldogene autotemcel (eli-cel) gene therapy, which consists of autologous CD34+ cells transduced with Lenti-D lentiviral vector containing complementary DNA, is being tested in persons with cerebral adrenoleukodystrophy.
Methods: In a phase 2-3 study, we evaluated the efficacy and safety of eli-cel therapy in boys with early-stage cerebral adrenoleukodystrophy and evidence of active inflammation on magnetic resonance imaging (MRI).
GLUT1 overexpression in CAR-T cells induces metabolic reprogramming and enhances potency.
Nat Commun
October 2024
Center for Cancer Cell Therapy, Stanford Cancer Institute, Stanford University School of Medicine, tanford, CA, USA.
The intensive nutrient requirements needed to sustain T cell activation and proliferation, combined with competition for nutrients within the tumor microenvironment, raise the prospect that glucose availability may limit CAR-T cell function. Here, we seek to test the hypothesis that stable overexpression (OE) of the glucose transporter GLUT1 in primary human CAR-T cells would improve their function and antitumor potency. We observe that GLUT1OE in CAR-T cells increases glucose consumption, glycolysis, glycolytic reserve, and oxidative phosphorylation, and these effects are associated with decreased T cell exhaustion and increased Th differentiation.
View Article and Find Full Text PDFThe genomic and transcriptomic landscape of metastastic urothelial cancer.
Nat Commun
October 2024
Department of Genetics, Institut Curie, 75005, Paris, France.
Article Synopsis
- Metastatic urothelial carcinoma (mUC) is a dangerous cancer with few treatment options, and its genetic makeup is not fully understood unlike non-metastatic urothelial carcinoma (UC).
- A study analyzing genetic data from 111 mUC biopsies found that common genetic changes are similar to those seen in primary UC and highlighted mutational signatures related to APOBEC, platinum sensitivity, and homologous recombination deficiency.
- The research revealed that a significant portion of mUC patients have potential therapeutic targets, with the most common being FGFR3, ERBB2, TSC1, and PIK3CA, and noted that certain genes like NECTIN4 and TACSTD2 are consistently highly expressed across different
Pharmacodynamic, prognostic, and predictive biomarkers in severe and critical COVID-19 patients treated with sirukumab.
Sci Rep
October 2024
Janssen Pharmaceutica NV, Beerse, Belgium.
We examined candidate biomarkers for efficacy outcomes in hospitalized COVID-19 patients who were treated with sirukumab, an IL-6 neutralizing antibody, in a randomized, double-blind, placebo-controlled, phase 2 trial. Between May 2020 and March 2021, 209 patients were randomized (sirukumab, n = 139; placebo, n = 70); 112 had critical COVID-19. Serum biomarkers were evaluated for the pharmacodynamic effect of sirukumab and for their potential prognostic and predictive effect on time to sustained clinical improvement up to Day 28, clinical improvement at Day 28, and mortality at Day 28.
View Article and Find Full Text PDFBridging brain insulin resistance to Alzheimer's pathogenesis.
Trends Biochem Sci
November 2024
Steno Diabetes Center Copenhagen, Herlev, 2730, Denmark; Institute of Pharmaceutical Science, King's College London, London, SE5 9RX, UK.
Article Synopsis
- Emerging research suggests a connection between type 2 diabetes mellitus (T2DM) and Alzheimer's disease (AD), highlighting brain insulin resistance as a crucial element.
- A study by Lanzillotta et al. shows that lower levels of biliverdin reductase-A (BVR-A) negatively affect the phosphorylation of glycogen synthase kinase 3β (GSK3β).
- This impairment leads to mitochondrial dysfunction, worsening brain insulin resistance and contributing to the advancement of both T2DM and AD.
Bivalent norovirus mRNA vaccine elicits cellular and humoral responses protecting human enteroids from GII.4 infection.
NPJ Vaccines
October 2024
Institue for RNA Innovation, the University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Nucleoside-modified mRNA-LNP vaccines have revolutionized vaccine development against infectious pathogens due to their ability to elicit potent humoral and cellular immune responses. In this article, we present the results of the first norovirus vaccine candidate employing mRNA-LNP platform technology. The mRNA-LNP bivalent vaccine encoding the major capsid protein VP1 from GI.
View Article and Find Full Text PDFDevelopment and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair.
bioRxiv
October 2024
Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD 20899, USA.
Article Synopsis
- The Genome in a Bottle Consortium (GIAB) is creating matched tumor-normal samples that are publicly consented for sharing genomic data and cell lines, focusing on pancreatic ductal adenocarcinoma (PDAC).
- They provide a comprehensive genomic dataset from the first individual, combining high-depth DNA from tumor and normal cells using advanced whole genome sequencing technologies.
- This open-access resource aims to help develop benchmarks for detecting genetic variants in cancer, fostering innovation in genome measurement and analysis tools.
Nitrogen accountancy in space agriculture.
NPJ Microgravity
September 2024
Center for the Utilization of Biological Engineering in Space (CUBES), Berkeley, CA, USA.
Food production and pharmaceutical synthesis are posited as essential biotechnologies for facilitating human exploration beyond Earth. These technologies not only offer critical green space and food agency to astronauts but also promise to minimize mass and volume requirements through scalable, modular agriculture within closed-loop systems, offering an advantage over traditional bring-along strategies. Despite these benefits, the prevalent model for evaluating such systems exhibits significant limitations.
View Article and Find Full Text PDFLong-Term Immunogenicity Study of an Aluminum Phosphate-Adjuvanted Inactivated Enterovirus A71 Vaccine in Children: An Extension to a Phase 2 Study.
Vaccines (Basel)
August 2024
Department of Pediatrics, National Taiwan University Children's Hospital, Taipei City 100226, Taiwan.
Article Synopsis
- Enterovirus A71 (EV-A71) is a virus that can cause serious health issues like hand, foot, and mouth disease and complications such as encephalitis in young children.
- A study followed 227 children aged 2 months to less than 6 years who received an inactivated EV71 vaccine (EV71vac) to assess its long-term immunity for up to 5 years.
- Results showed consistently high neutralizing antibody levels against various EV-A71 subgenotypes, with no reported long-term safety issues, indicating strong and lasting immunity in children.
Association of MicroRNA Expression and Serum Neurofilament Light Chain Levels with Clinical and Radiological Findings in Multiple Sclerosis.
Int J Mol Sci
September 2024
Research Group in Environmental Factors of Neurodegenerative Diseases, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Red de Enfermedades Inflamatorias (REI), 28040 Madrid, Spain.
microRNAs (miRNAs) are promising biomarkers for many diseases, including multiple sclerosis (MS). The neurofilament light chain (NfL) is a biomarker that can detect axonal damage in different neurological diseases. The objective of this study was to evaluate the association of the expression profile of pre-selected miRNAs and NfL levels with clinical and radiological variables in MS patients.
View Article and Find Full Text PDFTreatment Outcomes and Definition Inconsistencies in High-Risk Unilateral Retinoblastoma.
Am J Ophthalmol
December 2024
From the Sheba Medical Center, The Goldschleger Eye Institute (M.A., I.D.), Sheba Medical Center, Ramat Gan, Israel; Faculty of Medicine, Tel Aviv University (M.A., A.B., I.D.), Tel Aviv, Israel; London School of Hygiene & Tropical Medicine (I.D., M. A.), London, UK. Electronic address:
Purpose: To compare the clinical outcomes of children with unilateral retinoblastoma (Rb) and high-risk histopathology features (HRHF) following upfront enucleation with/without adjuvant chemotherapy, and investigate cases locally considered non-HRHF but converted to a standardized HRHF definition.
Design: Retrospective multinational clinical cohort study.
Methods: Children with Rb who presented to 21 centers from 12 countries between 2011-2020, and underwent primary enucleation were recruited.
Gene-Specific Effects on Brain Volume and Cognition of in Frontotemporal Lobar Degeneration.
Neurology
October 2024
From the VIB Center for Molecular Neurology (M.V., R.R., V.B., S.W.); Department of Biomedical Sciences (M.V., M.V.B., S.W., R.R.), University of Antwerp, Belgium; Department of Neurology (E.M.R., M.F.M.), David Geffen School of Medicine, University of California, Los Angeles; Department of Neurology (N.C.-L., V.K.R., T.K., K.K., B.F.B.); Department of Psychiatry and Psychology (N.C.-L., J.A.F., D.S.K., L.K.F.), Mayo Clinic, Rochester, MN; Department of Epidemiology and Biostatistics (J.K.), University of California, San Francisco; Department of Quantitative Health Sciences (C.M., D.E.B.), Mayo Clinic, Rochester, MN; Department of Neurology (A.M.S., A.A.W.), Memory and Aging Center, University of California, San Francisco; Weill Institute for Neurosciences, San Francisco, California; Institute for Precision Health (D.H.G.), Departments of Neurology, Psychiatry and Human Genetics at David Geffen School of Medicine, UCLA; Department of Neuroscience (T.G., L.P., M.B., N.R.G.-R.), Mayo Clinic, Jacksonville, FL; Alzheimer's Disease and Other Cognitive Disorders Unit (S.B.-É.), Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Fundació Clínic per a la Recerca Biomèdica, Uni; Department of Neurology (B.A., B.C.D.), Case Western Reserve University, Cleveland, OH; Department of Neurology (S.B.), University of Michigan, Ann Arbor; Department of Neurology (A.C.B.), University of North Carolina, Chapel Hill; Department of Neurology (D.C.), Indiana University, Indianapolis; Department of Neurology (R.R.D.), Vanderbilt University, Nashville, TN; Department of Neurology (K.D.-R.), University of Washington, Seattle, WA; Department of Neurosciences (D.G., G.C.L., I.L.), University of California, San Diego, La Jolla; Departments of Neurology and Psychiatry (N.G.), Washington University School of Medicine, Washington University, St. Louis, MO; Department of Psychiatry and Behavioral Sciences (I.M.G.), Northwestern Feinberg School of Medicine, Chicago, IL; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (L.S.H.), College of Physicians and Surgeons; Department of Neurology (L.S.H.), Columbia University, New York; Division of Neurology (G.-Y.R.H.), University of British Columbia, Vancouver, Canada; Department of Psychiatry and Human Behavior (E.D.H.), Alpert Medical School of Brown University, Providence, RI; Department of Neurology and Penn Frontotemporal Degeneration Center (D.J.I.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; National Institute of Neurological Disorders and Stroke (J.Y.K., A.S.), National Institutes of Health, Bethesda, MD; Department of Neurology (J.C.M., B.P.), Houston Methodist, TX; Department of Psychiatry and Behavioral Sciences (C.U.O.), Johns Hopkins University, Baltimore, MD; Department of Neurology (P.S.P.), University of Colorado, Aurora; Cleveland Clinic Lou Ruvo Center for Brain Health (A.R., D.W.), Las Vegas, NV; Department of Neurology (E.D.R.), University of Alabama at Birmingham; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases (A.C.S.), UT Health San Antonio; Tanz Centre for Research in Neurodegenerative Diseases (M.C.T.), Division of Neurology, University of Toronto, Ontario, Canada; Department of Neurology (H.W.H., A.L.B., H.J.R.), Memory and Aging Center, University of California, San Francisco; Weill Institute for Neurosciences, San Francisco, CA; and Department of Neuroscience (R.R.), Mayo Clinic, Jacksonville, FL.
Article Synopsis
- The study investigates the role of the genetic variant rs1990622 as a potential modifier of disease risk in frontotemporal lobar degeneration (FTLD), particularly among those with pathogenic variants.
- Researchers enrolled participants from the ALLFTD study, analyzing the impact of rs1990622 on gray matter volume and cognitive function across various genetic groups related to FTD.
- Results indicate that carriers of the minor allele of rs1990622 show increased gray matter volume and better cognitive performance, especially in the thalamus and among presymptomatic individuals.