Results 31 to 40 of about 225,004 (293)
Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
International Journal of Neonatal Screening, 2023 Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene.
Farshad Niri +13 more
doaj +1 more source
Neonatal cytokines and chemokines and risk of Autism Spectrum Disorder: the Early Markers for Autism (EMA) study: a case-control study. [PDF]
, 2014 BackgroundBiologic markers of infection and inflammation have been associated with Autism Spectrum Disorders (ASD) but prior studies have largely relied on specimens taken after clinical diagnosis.
Ashwood, Paul +8 more
core +3 more sources
By dawn or dusk—how circadian timing rewrites bacterial infection outcomes
FEBS Letters, EarlyView.The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo +2 more
wiley +1 more source
Molecular Oncology, EarlyView.Adaptaquin selectively kills glioma stem cells while sparing differentiated brain cells. Transcriptomic and proteomic analyses show Adaptaquin disrupts iron and cholesterol homeostasis, with iron chelation amplifying cytotoxicity via cholesterol depletion, mitochondrial dysfunction, and elevated reactive oxygen species.
Adrien M. Vaquié +16 more
wiley +1 more source
International Journal of Neonatal Screening, 2016 The Perkin Elmer Genetic Screening Processor (GSP)™ is a fully automated system for the processing of immunoassays for thyroid stimulating hormone (TSH), 17-hydroxyprogesterone (17-OHP), immuno reactive trypsin (IRT), biotinidase, and total T4, as well ...
Ralph Fingerhut, Susanna H. M. Sluka
doaj +1 more source
Aging and Cancer, EarlyView.ABSTRACT Background Breast cancer is a multifactorial disease that affects many women worldwide. Age is the most important risk factor for breast cancer, with an increased incidence markedly after the age of 50. The relationships of aging to breast cancer have been thoroughly examined, and notable connections regarding various age‐related changes in ...
Mehran Radak +3 more
wiley +1 more source
Characteristics of Cerebral Palsy in the Midwestern US
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim +6 more
wiley +1 more source
International Journal of Neonatal Screening, 2022 X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subfamily D member 1 gene (ABCD1) that encodes the adrenoleukodystrophy protein (ALDP). Defects in ALDP result in elevated cerotic acid,
Tarek A. Teber +4 more
doaj +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source