Results 61 to 70 of about 40,981 (269)

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Iodine-123-meta-iodobenzylguanidine Myocardial Scintigraphy in Isolated Autonomic Failure: Potential Red Flag for Future Multiple System Atrophy

Frontiers in Neurology, 2017
Pure autonomic failure is challenging as it can be the presenting feature of a central nervous system syncleinopathy such as Parkinson’s disease (PD) or multiple system atrophy (MSA).
Francesca Baschieri, Giovanna Calandra-Buonaura, Giovanna Calandra-Buonaura, Annagrazia Cecere, Annagrazia Cecere, Giorgio Barletta, Giorgio Barletta, Manuela Contin, Manuela Contin, Piero Parchi, Piero Parchi, Pietro Cortelli, Pietro Cortelli   +12 more
doaj   +1 more source

Autonomic innervation in multiple system atrophy and pure autonomic failure

Journal of Neurology, Neurosurgery & Psychiatry, 2010
Pure autonomic failure (PAF) and multiple system atrophy (MSA) are both characterised by chronic dysautonomia although presenting different disability and prognosis. Skin autonomic function evaluation by indirect tests has revealed conflicting results in these disorders.
Donadio V., CORTELLI, PIETRO, Elam M., Di Stasi V., MONTAGNA, PASQUALE, Holmberg B., Giannoccaro M. P., Bugiardini E., AVONI, PATRIZIA, BARUZZI, AGOSTINO, LIGUORI, ROCCO   +10 more
openaire   +3 more sources

Materials, Structure, and Interface of Stretchable Interconnects for Wearable Bioelectronics

Advanced Materials, EarlyView.
Stretchable interconnects are one of the fundamental components in achieving robust wearable devices, but their importance is often overlooked. This review highlights their importance and provides insightful information on various materials, configurations, and manufacturing approaches being studied for interconnects.
Yue Li, Asmita Veronica, Jiahao Ma, Hnin Yin Yin Nyein   +3 more
wiley   +1 more source

Synthetic Aspects and Characterization Needs in MOF Chemistry – from Discovery to Applications

Advanced Materials, EarlyView.
Overcoming the challenges of phase discovery, synthesis optimization and scale‐up, characterization, and computational studies is essential to accelerate the large‐scale application of MOFs. Life‐cycle analyses and techno‐economic analyses need to be performed to realistically assess their potential for industrial relevance.
Bastian Achenbach, Aysu Yurdusen, Norbert Stock, Guillaume Maurin, Christian Serre   +4 more
wiley   +1 more source

A Bio‐Inspired Perspective on Materials Sustainability

Advanced Materials, EarlyView.
This perspective discusses natural materials as inspiration for sustainable engineering designs and the processing of materials. First, circularity, longevity, parsimony, and activity are presented as essential material paradigms. The perspective then uses many examples of natural and technical materials to introduce principles such as oligo ...
Wolfgang Wagermaier, Khashayar Razghandi, Peter Fratzl   +2 more
wiley   +1 more source

Photonic Nanomaterials for Wearable Health Solutions

Advanced Materials, EarlyView.
This review discusses the fundamentals and applications of photonic nanomaterials in wearable health technologies. It covers light‐matter interactions, synthesis, and functionalization strategies, device assembly, and sensing capabilities. Applications include skin patches and contact lenses for diagnostics and therapy. Future perspectives emphasize AI‐
Taewoong Park, Jung Woo Leem, Young L. Kim, Chi Hwan Lee   +3 more
wiley   +1 more source

Bayesian Self‐Optimization for Telescoped Continuous Flow Synthesis

Angewandte Chemie International Edition, Volume 62, Issue 3, January 16, 2023., 2023
An autonomous continuous flow platform for the rapid development of multistep synthetic pathways is reported. New multipoint sampling and Bayesian optimization techniques were combined, enabling simultaneous identification of optimum reaction conditions within a pharmaceutical process. The short optimization times achieved are promising for development
Adam D. Clayton, Edward O. Pyzer‐Knapp, Mark Purdie, Martin F. Jones, Alexandre Barthelme, John Pavey, Nikil Kapur, Thomas W. Chamberlain, A. John Blacker, Richard A. Bourne   +9 more
wiley   +1 more source

Transforming Healthcare: Intelligent Wearable Sensors Empowered by Smart Materials and Artificial Intelligence

Advanced Materials, EarlyView.
Wearable sensors, empowered by AI and smart materials, revolutionize healthcare by enabling intelligent disease diagnosis, personalized therapy, and seamless health monitoring without disrupting daily life. This review explores cutting‐edge advancements in smart materials and AI‐driven technologies that empower wearable sensors for diagnostics and ...
Shuwen Chen, Shicheng Fan, Zheng Qiao, Zixiong Wu, Baobao Lin, Zhijie Li, Michael A. Riegler, Matthew Yu Heng Wong, Arve Opheim, Olga Korostynska, Kaare Magne Nielsen, Thomas Glott, Anne Catrine T. Martinsen, Vibeke H. Telle‐Hansen, Chwee Teck Lim   +14 more
wiley   +1 more source

2198 Cognitive and behavioral side effects in patients treated with droxidopa for neurogenic orthostatic hypotension

Journal of Clinical and Translational Science, 2018
OBJECTIVES/SPECIFIC AIMS: To describe adverse behavioral symptoms attributed to droxidopa therapy for neurogenic orthostatic hypotension (nOH). METHODS/STUDY POPULATION: BACKGROUND: Droxidopa, a norepinephrine (NE) precursor, improves symptoms of nOH by ...
Katherine McDonell, Cyndya Shibao, Italo Biaggioni, David Robertson, Daniel Claassen   +4 more
doaj   +1 more source