Results 101 to 110 of about 70,643 (278)

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Rate of complications due to neuromuscular scoliosis spine surgery in a 30-years consecutive series [PDF]

, 2017
PURPOSE: The aim of this study was to evaluate the rate of intraoperative and postoperative complications in a large series of patients affected by neuromuscular scoliosis. METHODS: It was a monocentric retrospective study.
CALDERARO, COSMA, Di Sanzo, Vincenzo, FERRETTI, Andrea, LABIANCA, LUCA, Montanaro, Antonello, Turturro, Francesco   +5 more
core   +1 more source

Factors modifying the course of spinal muscular atrophy 5q

Нервно-мышечные болезни
Proximal spinal muscular atrophy 5q (SMA 5q) is a severe autosomal recessive neuromuscular disease characterized by progressive symptoms of flaccid paralysis and muscular atrophy due to degeneration of α-motor neurons of the anterior horns of the spinal ...
M. A. Akhkiamova, O. A. Shchagina, A. V. Polyakov   +2 more
doaj   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

Animal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie, Zemao Huang, Ziyang Huang, Deqing Luo, Zhangxin Chen, Li Xie, Lingqi Zhu, Hui Liu, Kejian Lian, Paolo Alberton, Denitsa Docheva, Dasheng Lin   +11 more
wiley   +1 more source

Increased Adenine Nucleotide Degradation in Skeletal Muscle Atrophy [PDF]

, 2019
Adenine nucleotides (AdNs: ATP, ADP, AMP) are essential biological compounds that facilitate many necessary cellular processes by providing chemical energy, mediating intracellular signaling, and regulating protein metabolism and solubilization.
Brault, Jeffrey J., Hafen, Paul S., Miller, Spencer G.   +2 more
core   +1 more source

Longitudinal Metabolomics in Amyotrophic Lateral Sclerosis Implicates Impaired Lipid Metabolism

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by altered metabolome and energy homeostasis, manifesting with body mass index changes and hypermetabolism—both prognostic of disease progression and survival.
Kai Guo, Masha G. Savelieff, Dae‐Gyu Jang, Samuel J. Teener, Lili Zhao, Junguk Hur, Stephen A. Goutman, Eva L. Feldman   +7 more
wiley   +1 more source

Phosphatemia is an Independent Prognostic Factor in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective The objective of this study was to evaluate the prognostic value of several muscle damage biomarkers. Methods Data from Piemonte and Valle d'Aosta Amyotrophic Lateral Sclerosis (PARALS) were considered for this study. Survival was defined as the time from diagnosis to death, tracheostomy, or the censoring date.
Rosario Vasta, Emanuele Koumantakis, Antonio Canosa, Umberto Manera, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Enrico Matteoni, Francesca Di Pede, Filippo De Mattei, Filippo Vergnano, Jessica Mandrioli, Cecilia Simonini, Ilaria Martinelli, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Andrea Calvo, Adriano Chiò   +18 more
wiley   +1 more source

Proximal spinal muscular atrophy 5q

Нервно-мышечные болезни, 2020
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article Editorial
doaj  

Towards Polymer Composite‐Based Transient Electronic Systems

Advanced NanoBiomed Research, EarlyView.
Biodegradable electronic systems are gaining attention for implantable biomedical applications, targeting disease treatment and lifespan extension. This review covers advances in biocompatible, biodegradable polymer composites using synthetic and natural polymers with conductive, semiconductive, and insulating fillers.
Gwan‐Jin Ko, Venkata Ramesh Naganaboina, Emad S. Goda, Ankan Dutta, Huanyu Cheng, Suk‐Won Hwang   +5 more
wiley   +1 more source