Results 81 to 90 of about 557,287 (304)

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

, 2012
Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel of newborn ...
Pai, Sung-Yun, DeMaria, Alfred, Meissner, H. Cody, Bonilla, Francisco A., Cooper, Ellen Rae, Pasternack, Mark S., Notarangelo, Luigi D., Sahai, Inderneel, Comeau, Anne Marie, Hale, Jaime E, Eaton, Roger B.   +10 more
core   +1 more source

Microenvironmental Reprogramming by 3D Anisotropic Cardiac Extracellular Matrix Induces Nuclear Remodeling and Epigenetic Maturation of Chemically Induced Cardiomyocytes

Advanced Functional Materials, EarlyView.
A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo, Mi Jeong Lee, Hyun Wook Kang, Seonhee Byeon, Soo‐Kyoung Choi, Nakwon Choi, Seung‐Woo Cho, Yoonhee Jin   +7 more
wiley   +1 more source

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England

, 2012
To fulfill the purpose of newborn screening, comprehensive newborn screening programs must ensure that infants and children with newborn screening conditions are not only diagnosed but also they maintain engagement in appropriate lifespan and family ...
Sahai, Inderneel, Hale, Jaime E, Comeau, Anne Marie, Mulcahy, Eleanor A., Eaton, Roger B.   +4 more
core   +1 more source

Cellular Responses to Mechanical Cues Across Scales: From Fundamental Insights to Translational Potential

Advanced Healthcare Materials, EarlyView.
This review examines how cellular behavior is regulated by mechanical cues transmitted through soft biomaterials, from single‐cell mechanosensing to tissue‐level adaptation. It highlights why physiological relevance, rather than model complexity alone, is critical for translational mechanobiology and introduces a scoring framework linking material ...
Mathias Polz, Manuel P. Kainz, Niklas Haider, Theresa Rienmüller, Kerstin Lenk, Rupert Kargl, Michele Terzano, Gerhard Sommer, Gerhard A. Holzapfel, Julia Fuchs   +9 more
wiley   +1 more source

Cystic fibrosis newborn screening: using experience to optimize the screening algorithm

, 2012
Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT ...
Dorkin, Henry L., Spencer, L. Terry, Gerstle, Robert, O'Sullivan, Brian P., Parad, Richard B., Yee, William, Hale, Jaime E, Comeau, Anne Marie, Lapey, Allen   +8 more
core   +1 more source

Patient‐Derived 3D Heart‐On‐a‐Chip Model of Dilated Cardiomyopathy With Embedded Bead‐Based Mapping of Tissue Contractility

Advanced Healthcare Materials, EarlyView.
A heart‐on‐a‐chip model of dilated cardiomyopathy is developed from patient‐derived induced pluripotent stem cells. The model recapitulates key disease phenotypes and enables functional assessment through integrated bead‐based tracking and pillar deflection measurements.
Ali Mousavi, Ludovic Mouttet, Shihao Cui, Yasaman Hekmatnia, Mehran Mottahedi, Ida Derish, Naimeh Rafatian, Mark Aurousseau, Gregor Andelfinger, Renzo Cecere, Houman Savoji   +10 more
wiley   +1 more source

Innovative Realistic Low-Cost Newborn Chest Drain Manikin

Children
Aim: Insertion of a chest drain in a newborn infant is a procedure commonly performed in an emergency setting. There are no commercially available neonatal chest drain insertion simulation models.
Pankaj Patel, Mayur Prakash, Aldo Perdomo, Stephanie Morakeas, Sandra Warburton, James Elhindi, Dharmesh Shah   +6 more
doaj   +1 more source

HEMORRHAGE IN THE NEWBORN. [PDF]

JAMA: The Journal of the American Medical Association, 1906
Hemorrhage in the newborn is either traumatic or spontaneous. Traumatic Hemorrhage. —When hemorrhage occurs during the first twenty-four hours after delivery it is usually traumatic. In the class of traumatic hemorrhages are to be included the following: Cephalohematoma, hematoma of the sternocleidomastoid muscle, hemorrhage beneath the skin ...
openaire   +1 more source

Biphasic Co‐Delivery of Curcumin and 5‐FU using 3D‐Printed Dissolving Microneedles for Skin Cancer Therapy

Advanced Healthcare Materials, EarlyView.
Using pixel‐aware digital light processing, the authors created high‐resolution, dissolvable microneedles from a PEGDA/VP matrix. These microneedles encapsulate curcumin and 5‐fluorouracil and dissolve in the skin, co‐delivering drugs directly to tumours.
Rutuja N. Meshram, Dimitrios A. Lamprou
wiley   +1 more source

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China

Orphanet Journal of Rare Diseases
Background The global incidence of Hyperphenylalaninemia (HPA) demonstrates significant geographical variations, exhibiting distinct regional and ethnic characteristics in both phenotypic manifestations and genotypic profiles.
Qiong Wang, Jiang Duan, Xiaolong Zhao, Zhiye Qi   +3 more
doaj   +1 more source