Economic evaluation of cystic fibrosis screening: A Review of the literature, CHERE Working Paper 2006/6 [PDF]
Objectives: To critically examine the economic evidence on Cystic Fibrosis (CF) screening and to understand issues relating to the transferability of findings to the Australian context for policy decisions.
Jane Hall+4 more
core
Screening for congenital hypothyroidism in Maltese newborns using cord blood [PDF]
Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late.
Felice, Alex+3 more
core
Post‐Translational Modifications in Cilia and Ciliopathies
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley +1 more source
Assessment of circulating apoE4 levels from dried blood spot samples in a large survey setting
INTRODUCTION The apolipoprotein E (APOE) ε4 allele is associated with high risk for Alzheimer's disease. It is unclear whether individual levels of the circulating apoE4 protein in ε4 carriers confer additional risk.
Nis Borbye‐Lorenzen+8 more
doaj +1 more source
Assessment of care of children with sickle cell disease: implications for neonatal screening programmes. [PDF]
Ruairidh Milne
openalex +1 more source
Assessment of the incidence of sensorineural hearing loss among infants admitted to neonatal intensive care unit in health centers of Golestan University of Medical Sciences, Iran [PDF]
Materials and methods: In this prospective cohort study, 870 neonates were recruited by nonrandom sampling method. After filling in the demographic and clinical check lists, automated auditory brainstem response (AABR) was performed for neonates at the ...
Alaee, E., Fouladinejad, M., Sirati, M.
core
Iron overload in ovarian endometriosis (OE) disrupts follicular function and contributes to infertility. This study maps iron‐induced cellular changes using single‐cell and spatial transcriptomics, revealing senescence phenotypes in OE patients and mouse models. Similar patterns are observed in aging ovaries, highlighting iron metabolism as a potential
Yangshuo Li+14 more
wiley +1 more source
Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features. [PDF]
David Grant+4 more
openalex +1 more source
Total parenteral nutrition and carnitine supplementation practices in preterm neonates - results of a national survey [PDF]
Thesis (M.A.)--Boston UniversityBackground: The goal of postnatal total parenteral nutrition (TPN) in premature neonates (PT) is to mimic the intrauterine environment of the fetus. Micronutrients are essential for optimal development.
Khalid, Sabeen
core +1 more source
Microneedle suction cup patches, prepared using bionic Drosophila tarsal claws, can effectively treat bacterial infectious stomatitis by rapidly and efficiently leveraging multiple effects, including antibacterial and anti‐inflammatory properties, promotion of vasodilation, and active mechanical contraction of the wound.
Jiaqi Qin+6 more
wiley +1 more source