Results 71 to 80 of about 11,715,279 (299)

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

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Supergene mobilization and redistribution of platinum-group elements in the Merensky Reef, eastern Bushveld Complex, South Africa

, 2021
Near-surface supergene ores of the Merensky Reef in the Bushveld Complex, South Africa, contain economic grades of platinum-group elements, however, these are currently uneconomic due to low recovery rates.
Korges, Maximilian (Dr.), Junge, Malte (Dr.), Oberthür, Thomas, Borg, Gregor (Prof. Dr. rer. nat. Dipl.-Geol.)   +3 more
core   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Platinum-group minerals in the Jinchuan complex, China

, 2005
Platinum-group elements (PGE) and minerals (PGM), most commonly froodite (PdBi2), michenerite (PdTeBi), padrnaite (PdBiSe), sperrylite (PtAsz) and irarsite (IrAsS), have been analysed from the Jinchuan Ni-Cu-PGE sulphide deposit in the south western ...
Zhou, MF, Prichard, HM, Fisher, PC, Wang, CY, McDonald, I   +4 more
core  

Multi-component Platinum Group Metals for the methanol electro-oxidation process [PDF]

, 2018
>Magister Scientiae - MScThe purpose of this study was to develop a high performance-lower cost catalyst to be applied in Direct Methanol Fuel Cells (DMFC). The study also aimed to prepare plurimetallic supported platinum (Pt), platinum-ruthenium (PtRu)
Javu, Bulelwa Patricia
core   +1 more source

Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang, Zilin Xu, Ran Duan, Chunxiao Lu, Da Zhou, Chen Zhou, Ran Meng, Xunming Ji   +7 more
wiley   +1 more source

Biological role in the transformation of platinum-group mineral grains

, 2016
Platinum-group elements are strategically important metals. Finding new deposits is becoming increasingly difficult owing to our limited understanding of the processes that affect their mobility in surface environments.
Sahar S. Shar, Brugger, Joel, Kilburn, Matthew, Frank Reith, Brugger, J., Gordon Southam, Ta, C., Joël Brugger, Ralph Bottrill, Bottrill, Ralph, Shar, Sahar S., Ball, Andrew S., Zammit, C., Oberthür, T., Carla M. Zammit, Andrew S. Ball, Etschmann, Barbara, Southam, Gordon, Kilburn, M., Etschmann, B., Reith, Frank, Ta, Christine, Bottrill, R., Thomas Oberthür, Reith, F., Barbara Etschmann, Christine Ta, Southam, G., Ball, A., Matthew Kilburn, Zammit, Carla M., Oberthuer, Thomas, Shar, S.   +32 more
core   +1 more source

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Real‐world effectiveness and safety of secukinumab in giant cell arteritis: an Italian multicentre cohort study

Arthritis Care &Research, Accepted Article.
Objective The objective of this study was to evaluate the real‐world effectiveness and safety of secukinumab in giant cell arteritis (GCA) patients. Methods This multicentre retrospective study included patients with GCA who received secukinumab at 14 Italian centres with at least 6 months of follow‐up.
Luca Iorio, Federica Davanzo, Caterina Ricordi, Milena Bond, Ruggiero Mascolo, Jacopo Mora, Alessandro Tomelleri, Angelo Fassio, Francesca Cuzzocrea, Sara Monti, Edoardo Conticini, Fabiola Atzeni, Paolo Delvino, Carlotta Nannini, Augusta Ortolan, Francesco Pollastri, Ester Vivaldelli, Chiara Marvisi, Paola Toniati, Antonio Brucato, Alessandra Milanesi, Francesca Regola, Enrico Tombetti, Lorenzo Dagna, Roberta Ramonda, Christian Dejaco, Luca Quartuccio, Carlo Salvarani, Roberto Padoan, The Italian Society of Rheumatology Vasculitis Study Group   +29 more
wiley   +1 more source