Results 111 to 120 of about 1,345,993 (362)

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

Designing for Degradation: Transient Devices Enabled by (Nano)Cellulose

Advanced Materials, EarlyView.
Recent progress in transient devices enabled by (nano)cellulosic materials is reviewed. Transiency mechanisms, advantages of nanocelluloses, and a suite of applications are discussed. A circular thinking approach coupled with life cycle assessment is applied to critically revisit the potential, advantages, and challenges of nanocellulose‐enabled ...
Lucas J. Andrew, Erlantz Lizundia, Mark J. MacLachlan   +2 more
wiley   +1 more source

An analysis of MRI derived cortical complexity in premature-born adults: Regional patterns, risk factors, and potential significance

NeuroImage, 2020
Premature birth bears an increased risk for aberrant brain development concerning its structure and function. Cortical complexity (CC) expresses the fractal dimension of the brain surface and changes during neurodevelopment.
Dennis M. Hedderich, Josef G. Bäuml, Aurore Menegaux, Mihai Avram, Marcel Daamen, Claus Zimmer, Peter Bartmann, Lukas Scheef, Henning Boecker, Dieter Wolke, Christian Gaser, Christian Sorg   +11 more
doaj  

Alternating Loss Correction for Preterm-Birth Prediction from EHR Data with Noisy Labels [PDF]

arXiv, 2018
In this paper we are interested in the prediction of preterm birth based on diagnosis codes from longitudinal EHR. We formulate the prediction problem as a supervised classification with noisy labels. Our base classifier is a Recurrent Neural Network with an attention mechanism.
arxiv  

The experience of premature birth for fathers: the application of the Clinical Interview for Parents of High-Risk Infants (CLIP) to an Italian sample

Frontiers in Psychology, 2015
Aim: The study explored fathers’ experience of premature birth during the hospitalization of their infants, analyzing levels of depressive and anxiety symptoms as compared with mothers.
C. Candelori, Carmen Trumello, Alessandra Babore, M. Keren, Roberta Romanelli   +4 more
semanticscholar   +1 more source

Enhancing Ultrasound Power Transfer: Efficiency, Acoustics, and Future Directions

Advanced Materials, EarlyView.
Implantable devices significantly enhance healthcare but are limited by battery life. Ultrasound power transfer technology offers a promising solution for sustainable operation. This review addresses gaps in current research, particularly in sound field analysis and energy efficiency optimization.
Yi Zheng, Zhuomin Zhang, Yanhu Zhang, Qiqi Pan, Xiaodong Yan, Xuemu Li, Zhengbao Yang   +6 more
wiley   +1 more source

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023
Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang, Jie Wu, Jinyuan Yang, Shasha Huang, Yongyi Yuan, Pu Dai   +5 more
wiley   +1 more source

Heart Rate Variability and Respiration Signal as Diagnostic Tools for Late Onset Sepsis in Neonatal Intensive Care Units [PDF]

arXiv, 2016
Apnea-bradycardia is one of the major clinical early indicators of late-onset sepsis occurring in approximately 7% to 10% of all neonates and in more than 25% of very low birth weight infants in NICU. The objective of this paper was to determine if HRV, respiration and their relationships help to diagnose infection in premature infants via non-invasive
arxiv  

Time trends and risk factor associated with premature birth and infants deaths due to prematurity in Hubei Province, China from 2001 to 2012

BMC Pregnancy and Childbirth, 2015
BackgroundThe nutrition and epidemiologic transition has been associated with an increasing incidence of preterm birth in developing countries, but data from large observational studies in China have been limited. Our study was to describe the trends and
Haiqing Xu, Qiong Dai, Yusong Xu, Zhengtao Gong, Guohong Dai, M. Ding, C. Duggan, Zubin Hu, F. Hu   +8 more
semanticscholar   +1 more source

Rational Design of Metal–Organic Frameworks for Pancreatic Cancer Therapy: from Machine Learning Screening to In Vivo Efficacy

Advanced Materials, EarlyView.
This work explores the MOF landscape to select a single, optimal candidate for successfully delivering cancer drugs (gemcitabine, paclitaxel, SN‐38) into tough pancreatic tumors. Machine learning and simulations guide this search, demonstrating colloidal stability, excellent biocompatibility, cellular uptake, and sustained release.
Francesca Melle, Dhruv Menon, João Conniot, Jon Ostolaza‐Paraiso, Sergio Mercado, Jhenifer Oliveira, Xu Chen, Bárbara B. Mendes, João Conde, David Fairen‐Jimenez   +9 more
wiley   +1 more source