Results 101 to 110 of about 286,030 (326)

Live or Let Die? The Court of Protection's Ground-Breaking Decision in M. v. N. (by her litigation friend, the Official Solicitor) and others [2015] EWCOP 76 (Fam.) [PDF]

, 2016
This case note examines the first case in which the Court of Protection authorised the withdrawal of life-sustaining nutrition and hydration from a patient in a minimally conscious state. It reflects on the judge’s stated view that the label given to the
Pywell, Stephanie
core   +1 more source

Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan, Stephanie A. Chu, Suvi Häkkinen, Liwen Zhang, David McFall, Jonathan D. Rohrer, Jesse A. Brown, Alex J. Lee, Kristen Fernhoff, Lorenzo Pasquini, Katherine P. Rankin, Maria Luisa Mandelli, Maria Luisa Gorno‐Tempini, Jennifer S. Yokoyama, Virginia E. Sturm, Brian Appleby, Bradford C. Dickerson, Kimiko Domoto‐Reilly, Tatiana Foroud, Daniel H. Geschwind, Nupur Ghoshal, Neill R. Graff‐Radford, Ging‐Yuek Robin Hsiung, Eric J. Huang, Edward Huey, Kejal Kantarci, Irene Litvan, Ian R. Mackenzie, Mario F. Mendez, Chiadi U. Onyike, Leonard Petrucelli, Eliana Marisa Ramos, Erik D. Roberson, Julio C. Rojas, Maria Carmela Tartaglia, Arthur W. Toga, Sandra Weintraub, Leah K. Forsberg, Hilary W. Heuer, Brad F. Boeve, Adam L. Boxer, Howard J. Rosen, Bruce L. Miller, Fermin Moreno, William W. Seeley, Suzee E. Lee, on behalf of the ALLFTD Consortium   +46 more
wiley   +1 more source

Practice Recommendations for Genetic Testing of Ataxias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan, Amy D. Mook, Michelle Rochman, Jin Yun Helen Chen, Weiyi Mu, George R. Wilmot, Liana S. Rosenthal, Wendy R. Uhlmann   +7 more
wiley   +1 more source

Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities

Annals of Clinical and Translational Neurology, EarlyView.
Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski, Freddy Chafota, Fangyuan Cao, Amanda Wei Yin Lim, Victor Flores‐Ocampo, Santiago Díaz‐Torres, Zuriel Ceja, Luis M. García‐Marín, Scott F. Farrell, Kishore R. Kumar, Jane Alty, George D. Mellick, Trung Thành Ngô, Miguel E. Rentería   +13 more
wiley   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Tai‐Chung Tseng, Tung‐Hung Su, Chien‐Ting Hsu, Huey‐Ling Chen, Chin‐Hsien Lin, Yen‐Hsuan Ni   +12 more
wiley   +1 more source

Longitudinal Study of Salivary Biomarkers in the Definition of Clinico‐Molecular Progression of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
Longitudinal changes in salivary biomarkers in Parkinson’s disease (PD) from early (T0) to 4‐year follow‐up (T1), quantified by ELISA: oligomeric and total α‐synuclein, total and phosphorylated tau, MAP1LC3B (autophagy), and TNFa (inflammation). Blue arrows indicate direction of change at T1 vs T0 (up = increase; down = decrease).
Maria Ilenia De Bartolo, Daniele Belvisi, Matteo Costanzo, Claudia Caturano, Francesco Emanuele Bellomi, Carolina Cutrona, Flavia Aiello, Giorgio Leodori, Massimo Marano, Romina Mancinelli, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli, Giorgio Vivacqua   +13 more
wiley   +1 more source

Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague, Kristin Engelstad, Yue Ge, Amber Tucker, Shufang Li, Jasim Uddin, Ziwei Zhao, John L. P. Thompson, Michio Hirano   +8 more
wiley   +1 more source

CSF Mitochondrial DNA: Biomarker of Body Composition and Energy Metabolism in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebrospinal fluid (CSF) cell‐free mitochondrial DNA (cf‐mtDNA) is a potential biomarker for Parkinson's disease (PD), but its clinical relevance remains unclear. We investigated associations between CSF cf‐mtDNA levels, body composition, nutritional status, and metabolic biomarkers in PD. Methods CSF cf‐mtDNA levels, defined as the
Yasuaki Mizutani, Tsuyoshi Nakai, Yasuhiro Maeda, Reiko Ohdake, Atsuhiro Higashi, Toshiki Maeda, Ryunosuke Nagao, Sayuri Shima, Kazuya Kawabata, Akihiro Ueda, Mizuki Ito, Hirohisa Watanabe   +11 more
wiley   +1 more source

Moving into the wide clinical spectrum of consciousness disorders: Pearls, perils and pitfalls

Medicina, 2016
The last few years have been characterized by a growing interest of the medical and scientific world for the field of consciousness and its related disorders.
Rocco Salvatore Calabrò, Demetrio Milardi, Alberto Cacciola, Angela Marra, Giuseppina Digangi, Carmela Casella, Alfredo Manuli, Rosaria De Luca, Rosalia Silvestri, Placido Bramanti   +9 more
doaj   +1 more source