Results 51 to 60 of about 381,397 (291)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Fetal MRI : an essential step in interpreting complex ultrasound findings [PDF]

, 2016
Background: Fetal magnetic resonance imaging (MRI) allows for the interpretation of complex fetal anomalies detected on ultrasound (US). Locally it has been available since 2013 but has remained underused.
Gatt, Andre Stefan, Baldacchino, Ian, Saliba, Isabelle   +2 more
core  

3D‐Printed Titanium Gyroid Scaffold Structure Integrated With Tough Hybrid Materials for Cartilage Replacement

Advanced Engineering Materials, EarlyView.
This study proposes a potential device design for joint cartilage replacement. Silica‐polytetrahydrofuran (SiO2‐PolyTHF) hybrids with customizable mechanical properties were developed to mimic the characteristics of a natural meniscus. These were synthesized through a two‐pot sol–gel hybrid process.
Yu‐Chien Lin, Gloria R. Young, Francesca Tallia, Reece N. Oosterbeek, Shaaz Ghouse, Edward Spiers, Nupur Kohli, Tom Briggs, Marc Masen, Siwei Li, Ren‐Jei Chung, Jonathan R. T. Jeffers, Julian R. Jones   +12 more
wiley   +1 more source

Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases

Acta Obstetricia et Gynecologica Scandinavica
Introduction This study aims to systematically describe eye malformations and correlate these with extraocular findings. Based on these findings, we propose a protocol for ultrasound evaluation of the fetal eye.
Jorge Jiménez Cruz, Paul Böckenhoff, Laura Tascón Padrón, Norah Emrich, Philipp Kosian, Brigitte Strizek, Cristoph Berg, Eva Weber, Ulrich Gembruch, Annegret Geipel   +9 more
doaj   +1 more source

The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations

Акушерство, гинекология и репродукция, 2020
Introduction. The prevalence of congenital malformations (CMFs) in fetal central nervous system (CNS) ranges from 1.5 to 3 % and covers around 29 % among all malformations, whereas percentage in the structure of perinatal and infant mortality reaches 25 ...
J. K. Kievskaya, I. V. Kanivets, E. V. Kudryavtseva, D. V. Pyankov, S. A. Korostelev   +4 more
doaj   +1 more source

Bioinspired Co‐Assembly Enables Multiscale Architected Hydrogels for 3D Printing With Integrated Antibacterial and Bioactive Functions

Advanced Functional Materials, EarlyView.
A multicomponent supramolecular hydrogel integrating cell‐adhesive and antibacterial peptides within an alginate‐cellulose nanofibril matrix is developed. Peptide co‐assembly simultaneously strengthens the hydrogel network, improves extrusion printability, and imparts cell‐adhesive and antibacterial functions, offering a versatile platform for ...
Mor Tsuriano‐Zernichov, Francesca Netti, Sigal Rencus‐Lazar, Moran Aviv, Lihi Adler‐Abramovich   +4 more
wiley   +1 more source

2D Skeletal Muscle Thin Film Actuators Enhance Efficiency of Biohybrid Robots

Advanced Functional Materials, EarlyView.
2D skeletal muscle thin film actuators generate millinewton‐scale forces and millimeter‐scale strokes while remaining functional for over 30 days. Their force density is 20‐fold higher than 3D skeletal muscle actuators, enabling multi‐fin robots with tunable speed and multidirectional steering.
Maheera Bawa, Arielle Berman, Laura Schwendeman, Ferdows Afghah, Seanbiron Johnson, Ritu Raman   +5 more
wiley   +1 more source

Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)

Taiwanese Journal of Obstetrics & Gynecology
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band ...
Chih-Ping Chen
doaj   +1 more source

Genetically Programmed Shape‐Morphing of Engineered Living Materials

Advanced Functional Materials, EarlyView.
Here, bacterial and mammalian engineered living materials (ELMs) are presented, in which living cells direct genetically programmed and enzymatically mediated shape‐morphing. The resulting deformation and shape‐recovery can be actuated in a genetically controlled manner by an ELM incorporating out‐of‐equilibrium counteracting biochemical reactions with
Jan Becker, Yuchen Liu, Miguel Baños, Rosanne Schmachtenberg, Mahmudul Hasan, Claudia Fink‐Straube, Luai R. Khoury, Wilfried Weber   +7 more
wiley   +1 more source

Recurrent miscarriage and fetal congenital malformations: Is there a neglected causal association? [PDF]

, 2020
The aim of the present study is to investigate the correlation between pregnancies complicated by morphological or chromosomal fetal anomalies and an obstetric history of two or more pregnancy losses, analyzing the association with any maternal risk ...
G. P. Sabusco, G. Campagna, M. De Santis, M. Gratta, D. Visconti, G. Scambia, C. Neri, A. Lanzone, N. Di Simone   +8 more
core   +1 more source