Results 141 to 150 of about 13,287 (281)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin   +88 more
wiley   +1 more source

Diagnostic Use of Testing for Novel Murine Autoantibodies for Sjögren Disease in the Rheumatology Outpatient Setting

Arthritis Care &Research, EarlyView.
Objective The goal was to assess the diagnostic performance of three novel autoantibodies (NA) for Sjögren disease (SjD) by comparing NA prevalence in patients with SjD, other autoimmune rheumatic diseases (ARDs), nonspecific chronic sialadenitis (CS), and controls.
Chadwick R. Johr, Michael D. George, Vatinee Y. Bunya, Nora Sandorfi, Mina Massaro‐Giordano, Frederick B. Vivino   +5 more
wiley   +1 more source

Does Long‐Term Lower Extremity Strength Training in Adults With Knee Osteoarthritis and Varus Alignment Reduce Knee Joint Loading During Gait?

Arthritis Care &Research, EarlyView.
Objective We examined whether 18 months of strength training in individuals with knee varus alignment and medial tibiofemoral osteoarthritis (OA) reduced knee joint loads during walking compared to an attention control group. Methods This study was a secondary analysis of a randomized clinical trial that compared the effects of strength training to a ...
Stephen P. Messier, Matthew N. Vigliotti, Paige E. Rice, Brian Pietrosimone, Shannon L. Mihalko, Edward H. Ip, Richard F. Loeser, David J. Hunter, Ali Guermazi, Ryan Hill, Santiago Saldana, Kim L. Bennell, Paul DeVita   +12 more
wiley   +1 more source

Cancer cell identification in tissue imaging via phasor map analysis in polarization-resolved two-photon excitation fluorescence microscopy. [PDF]

Biomed Opt Express
Mohebi A, Mortensen LB, Untracht GR, Veettikazhy M, Le Gratiet A, Andersen PE.   +5 more
europepmc   +1 more source

Phasor-based FLIM analysis of NAD(P)H and FAD autofluorescence for label-free bacterial classification. [PDF]

J Biomed Opt
Dyrøy P, Heitz J, Studier H, Johannsmeier S, Ripken T.   +4 more
europepmc   +1 more source

Integrating Patient‐Reported Quality Measures in Systemic Lupus Erythematosus: Development of the American College of Rheumatology Implementation Guide

Arthritis Care &Research, EarlyView.
Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcome measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semistructured interviews ...
Catherine Nasrallah, Cherish Wilson, Christine Hariz, Christie M. Bartels, Shanthini Kasturi, Wambui Machua, Amy Bennett, Kate Chiseri, Allison Plitman, Starla Hairston Blanks, April Jorge, Patti Katz, Jinoos Yazdany, Shivani Garg   +13 more
wiley   +1 more source

Fluorescence-based mapping of condensate dielectric permittivity uncovers hydrophobicity-driven membrane interactions. [PDF]

Nat Commun
Sabri E, Mangiarotti A, Dimova R.
europepmc   +1 more source