Results 81 to 90 of about 1,922,511 (410)

Reducing False-Positive Results in Newborn Screening Using Machine Learning

open access: yesInternational Journal of Neonatal Screening, 2020
Newborn screening (NBS) for inborn metabolic disorders is a highly successful public health program that by design is accompanied by false-positive results.
G. Peng   +5 more
semanticscholar   +1 more source

Pediatric residents\u27 use of jargon during counseling about newborn genetic screening results [PDF]

open access: yes, 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

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas   +24 more
wiley   +1 more source

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

open access: yesJAMA Network Open, 2020
Key Points Question What is the analytical and clinical validity of a mass spectrometric method evaluating very long-chain fatty acyl-lysophosphatidylcholine species for the detection of X-linked adrenoleukodystrophy among newborns in North Carolina ...
Stacey Lee   +14 more
semanticscholar   +1 more source

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

open access: yes, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C.   +4 more
core   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte   +13 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]

open access: yes, 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  

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang   +11 more
wiley   +1 more source

Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand

open access: yesInternational Journal of Neonatal Screening, 2022
Between 2005 and 2021, 49 cases of classical congenital adrenal hyperplasia were diagnosed in New Zealand, 39 were detected in newborns and 10 were not detected by screening. Currently, for every case of CAH detected by screening, 10 false-positive tests
Mark R. de Hora   +4 more
doaj   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons   +8 more
wiley   +1 more source

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