Results 101 to 110 of about 80,027 (353)

Rehabilitation in spinal muscular atrophy

The Journal of the International Society of Physical and Rehabilitation Medicine, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with symptoms of progressive skeletal muscular atrophy which requires multidisciplinary medical care.
Agus Iwan Foead, Wendy Wai Yeng Yeo, Thirupathirao Vishnumukkala, Michael Larvin   +3 more
doaj   +1 more source

AVRA: Automatic Visual Ratings of Atrophy from MRI images using Recurrent Convolutional Neural Networks [PDF]

, 2018
Quantifying the degree of atrophy is done clinically by neuroradiologists following established visual rating scales. For these assessments to be reliable the rater requires substantial training and experience, and even then the rating agreement between two radiologists is not perfect. We have developed a model we call AVRA (Automatic Visual Ratings of
arxiv   +1 more source

The Immune Microenvironment: New Therapeutic Implications in Organ Fibrosis

Advanced Science, EarlyView.
This review summarizes recent advances in understanding the immune microenvironment's role in fibrosis, focusing on phenotypic/functional alterations of immune cells and their dynamic interactions with other cellular constituents within tissues. The authors further explore therapeutic opportunities and challenges in targeting immune microenvironment ...
Xiangqi Chen, Chuan Wu, Fei Tang, Jingyue Zhou, Li Mo, Yanping Li, Jinhan He   +6 more
wiley   +1 more source

Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]

, 2014
As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
core   +1 more source

Advances in 3D and 4D Printing of Soft Robotics and Their Applications

Advanced Intelligent Systems, EarlyView.
This article summarizes the development of 3D‐printed soft robotics in the recent decade. The article discusses the printing capabilities of different additive manufacturing technologies in terms of soft polymers, multimaterial printability, soft robotic printing, and 4D printing.
Hao Liu, Changchun Wu, Senyuan Lin, James Lam, Ning Xi, Yonghua Chen   +5 more
wiley   +1 more source

A Wearable Soft Actuator for Directional Tactile Stimulation: Design and Testing

Advanced Intelligent Systems, EarlyView.
A wearable actuator able to produce directional tactile stimulation is obtained by embedding a planar shape memory spring in silicone matrix. The matrix is designed taking into account skin characteristics and leveraging its multifunctionality: it acts as a bias load, improves the thermal behavior of the spring and wearability.
Fabio Lazzari, Jacopo Romanò, Davide Faranna, Lorenzo Garavaglia, Francesco Volontè, Carlo Fanciulli, Simone Pittaccio   +6 more
wiley   +1 more source

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

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

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

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