Results 241 to 250 of about 212,548 (293)

Neonatal Respiration Monitoring System with Synchronized Oxygen Supply and Machine Learning‐Based Breathing Classification

Advanced Intelligent Systems, EarlyView.
The study presents a low‐cost, noninvasive system for real‐time neonatal respiratory monitoring. A flexible, screen‐printed sensor patch captures chest movements with high sensitivity and minimal drift. Combined with machine learning, the system accurately detects breathing patterns and offers a practical solution for neonatal care in low‐resource ...
Gitansh Verma, Eugen Koch, Andreas Dietzel, Shrutidhara Sarma   +3 more
wiley   +1 more source

Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden. [PDF]

Int J Neonatal Screen
Cazzorla C, Gragnaniello V, Gaiga G, Gueraldi D, Puma A, Loro C, Benetti G, Schiavo R, Porcù E, Burlina AP, Burlina AB.   +10 more
europepmc   +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

Beyond Targeted Newborn Screening: A Nontargeted Metabolomics Workflow to Investigate Birthweight-Metabolome Correlations. [PDF]

Anal Chem
Asef CK, Moore SG, Pickens CA, Saavedra-Matiz CA, Orsini JJ, Petritis K, Gaul DA, Fernández FM.   +7 more
europepmc   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Economic evaluation of the role of telemedicine in paediatric cardiology: Final Report [PDF]

, 2005
Dowie, R, Mistry, H, Weatherburn, G, Young, T   +3 more
core  

Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening. [PDF]

Diagnostics (Basel)
Lee CL, Chang SW, Fang HH, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +10 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA. [PDF]

Mol Genet Metab Rep
Shekhawat DS, Mittal A, Singh K.
europepmc   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source