Pediatric residents\u27 use of jargon during counseling about newborn genetic screening results [PDF]
, 2008 OBJECTIVE. The goal was to investigate pediatric residents’ usage of jargon during discussions about positive newborn screening test results. METHODS.
Christopher, Stephanie +3 more
core +1 more source
Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis [PDF]
, 2018 BACKGROUND: In children with cystic fibrosis (CF), recovery from growth faltering within 2 years of diagnosis (Responders) is associated with better growth and less lung disease at age 6 years.
Farrell, Philip M. +3 more
core +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Child Health Providers\u27 Precautionary Discussion of Emotions During Communication about Results of Newborn Genetic Screening [PDF]
, 2012 Objective To demonstrate a quantitative abstraction method for Communication Quality Assurance projects to assess physicians\u27 communication about hidden emotions after newborn genetic screening.
Christopher, Stephanie +3 more
core +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Implementing a newborn hearing screening programme : a feasibility study : a thesis presented in partial fulfillment of the requirements for the degree of Master of Arts at Massey University [PDF]
, 2004 Aim. To determine the feasibility of implementing a universal newborn hearing screening programme at National Women's Hospital (NWH), Auckland, New Zealand. Method. This feasibility study evaluates the potential for success of a Universal Newborn Hearing
Anderson-Hawke, Karen
core
The impact of universal newborn hearing screening on long-term literacy outcomes: a prospective cohort study [PDF]
, 2016 Objective: To determine whether the benefits of universal newborn hearing screening (UNHS) seen at age 8?years persist through the second decade.Design: Prospective cohort study of a population sample of children with permanent childhood hearing ...
Blythe, Hazel I. +9 more
core +1 more source
Building a Newborn Screening Information Management System from Theory to Practice
International Journal of Neonatal Screening, 2019 Information Management Systems are the central process management and communication hub for many newborn screening programs. In late 2014, Newborn Screening Ontario (NSO) undertook an end to end assessment of its information management needs which ...
Michael Pluscauskas +3 more
doaj +1 more source
Clinical Validation of Plasma p‐217tau in Neurological Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi +13 more
wiley +1 more source
Arthritis Care &Research, Accepted Article.Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among long‐term HCQ users with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain OCT (SD‐OCT) for screening. Methods A systematic search of PubMed, Scopus,
Narsis Daftarian +4 more
wiley +1 more source