Results 71 to 80 of about 198,582 (348)

Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, S N, Sarbadhikari, S, Kavitha   +2 more
core   +1 more source

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group [PDF]

, 2016
There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different ...
Ben Omran, T, Glamuzina, E, Hollak, C, Janssen, M. C, Lachmann, R, Langendonk, J, Merkel, M, Mochel, F, SCARPELLI, Mauro, Sechi, A, Sirrs, S, Tchan, M. C.   +11 more
core   +1 more source

Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study

Frontiers in Genetics, 2019
This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectrometry (TMS) and gene diagnosis by next-generation sequencing (NGS). First, we described the characteristics of gene variants in Jiangsu Province.
Yuqi Yang, Leilei Wang, Ben-jing Wang, Shuang Liu, Bin Yu, Ting Wang   +5 more
semanticscholar   +1 more source

Materials Advances in Devices for Heart Disease Interventions

Advanced Materials, EarlyView.
This review examines the crucial role of materials in heart disease interventions, focusing on strategies for monitoring, managing, and repairing heart conditions. It discusses the material requirements for medical devices, highlighting recent innovations and their impact on cardiovascular health.
Gagan K. Jalandhra, Lauryn Srethbhakdi, James Davies, Chi Cong Nguyen, Phuoc Thien Phan, Zachary Och, Aditya Ashok, Khoon S. Lim, Hoang‐Phuong Phan, Thanh Nho Do, Nigel H. Lovell, Jelena Rnjak‐Kovacina   +11 more
wiley   +1 more source

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA, Crouch E, deMello DE, Dirksen U, Doyle IR, Fisher JH, Floros J, Glasser SW, Green D, Hawgood S, Ikegami M, Ikegami M, Ikegami M, Kitamura T, Kresch MJ, Madan T, Mahut B, Mason RJ, Myrianthopoulos NC, Nogee LM, Pilot-Matias TJ, Power JHT, Prakash UBS, Reed JA, Robertson B, Rosen SH, Stoll BJ, Tredano M, Vorbroker DK, Wang J-Y   +29 more
core   +1 more source

Fast Reconstruction of Compact Context-Specific Metabolic Network Models [PDF]

, 2013
Systemic approaches to the study of a biological cell or tissue rely increasingly on the use of context-specific metabolic network models. The reconstruction of such a model from high-throughput data can routinely involve large numbers of tests under different conditions and extensive parameter tuning, which calls for fast algorithms.
arxiv   +1 more source

Evolving Inborn Knowledge For Fast Adaptation in Dynamic POMDP Problems [PDF]

, 2020
Rapid online adaptation to changing tasks is an important problem in machine learning and, recently, a focus of meta-reinforcement learning. However, reinforcement learning (RL) algorithms struggle in POMDP environments because the state of the system, essential in a RL framework, is not always visible. Additionally, hand-designed meta-RL architectures
arxiv   +1 more source

Transcriptomic Profiling Unveils EDN3+ Meningeal Fibroblasts as Key Players in Sturge‐Weber Syndrome Pathogenesis

Advanced Science, EarlyView.
Sturge‐Weber syndrome (SWS) is characterized by leptomeningeal vascular malformations, leading to seizures and stroke. Analysis of 119 446 brain cells from SWS patients uncovered distinct cell heterogeneity and identified an EDN3⁺ meningeal fibroblast cluster, with WNT5A emerging as a potential key driver of SWS progression and a promising therapeutic ...
Daosheng Ai, Tianyue Ming, Xiaoli Li, Shu Wang, Zhanying Bi, Jinyi Zuo, Zizhang Cheng, Weijin Sun, Mingguo Xie, Fengzhi Li, Xiongfei Wang, Xueling Qi, Guoming Luan, Woo‐ping Ge, Yuguang Guan   +14 more
wiley   +1 more source

Perceived stress in patients with inflammatory and non‐inflammatory skin conditions. An observational controlled study among 255 Norwegian dermatological outpatients

Skin Health and Disease, Volume 2, Issue 4, December 2022., 2022
Abstract Background Inflammation may increase stress, while stress may promote inflammation. Most dermatological conditions are chronic and inflammatory, while some, such as cancer, naevi and tumours are non‐inflammatory, but may cause stress because of the fear of malignancy and the necessity for surgical and other invasive treatments.
Flora Balieva, Christina Schut, Jörg Kupfer, Lars Lien, Laurent Misery, Francesca Sampogna, Love von Euler, Florence J. Dalgard   +7 more
wiley   +1 more source

Nanotherapy for Neural Retinal Regeneration

Advanced Science, EarlyView.
Nanotechnology enhances ophthalmic treatments by improving drug delivery and regenerating ocular tissues, combating vision loss from retinal diseases through innovative nano‐systems. This review outlines ocular anatomy, pathology, immune microenvironment, and barriers, detailing nanocarrier characteristics, classification, and preparation methods, and ...
Chuyao Yu, Li Dong, Yujia Lv, Xuhan Shi, Ruiheng Zhang, Wenda Zhou, Haotian Wu, Heyan Li, Yitong Li, Zhou Li, Dan Luo, Wen‐Bin Wei   +11 more
wiley   +1 more source