Results 61 to 70 of about 1,245,890 (249)
Journal of Inborn Errors of Metabolism and Screening, 2021 Introduction: Any abnormal newborn screening (NBS) test should be subjected to appropriate diagnostic tests and should be followed. Once the newborn has been diagnosed and treated, the family should receive comprehensive genetic services.
Isabel Ibarra-González +6 more
doaj +1 more source
Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges
Epilepsia Open, EarlyView.Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus +7 more
wiley +1 more source
Triggered Calcium Lightning Programs Cochlear Development
Exploration, EarlyView.Summary: Before the onset of hearing, the developing inner ear generates spontaneous calcium signals that are thought to guide maturation. In this study, we discovered a rapid and widespread calcium flash—dubbed “Ca2+ lightning”—originating from supporting cells beneath the sensory hair cells, which triggers coordinated calcium waves across the entire ...
Qiang Ma +13 more
wiley +1 more source
International Journal of Neonatal ScreeningNewborn bloodspot screening (NBS) began in Guthrie’s laboratory in 1961 for phenylketonuria. A federal study the following year formed the basis for expanding NBS as a public health function. Diseases detectable through NBS gradually expanded, eventually
Bradford L. Therrell
doaj +1 more source
Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs [PDF]
, 2012 In November 2003, CDC and the Cystic Fibrosis Foundation cosponsored a workshop to review the benefits and risks associated with newborn screening for cystic fibrosis (CF).
Grosse, Scott D. +6 more
core
Universal neonatal hearing screening moving from evidence to practice
, 2004 Recent technological advances have made feasible universal newborn hearing screening and therefore early detection of permanent childhood hearing impairment.
Kennedy, Colin R., McCann, Donna C.
core +1 more source
Head &Neck, EarlyView.ABSTRACT Introduction Thyroid nodules are less common but more often malignant in pediatric patients than in adults. Our objectives were to study the features of benign vs. malignant thyroid nodules in a large pediatric patient cohort. Methods Retrospective observational cohort study. Consecutive patients aged 0.01–17.9 years at evaluation between 1997–
Maxime Gest‐Laurent +15 more
wiley +1 more source
Integration of new genetic diseases into statewide newborn screening: New England experience
, 2012 Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results and determined how many positive
Larson, Cecilia A. +2 more
core +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.This graphical abstract illustrates the dynamic bidirectional crosstalk between microRNA biogenesis and autophagy, which serves as a critical regulatory axis in cardiovascular homeostasis. We highlight how specific miRNAs modulate autophagic flux to mitigate vascular inflammation and plaque instability, while concurrently, the autophagic machinery ...
Sepehr Ebrahimi‐Dehkordi +11 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard +33 more
wiley +1 more source