Results 91 to 100 of about 1,606,043 (303)

Ultrasound‐Activatable Piezoelectric Hydrogel Reprograms Mitochondrial Epigenetics for Osteoarthritis Therapy via the mTOR/GATD3A Axis

open access: yesAdvanced Science, EarlyView.
An ultrasound‐activatable piezoelectric hydrogel reprograms chondrocyte mitochondrial epigenetics via the mTOR/GATD3A axis, clearing damaged mitochondria and alleviating osteoarthritis progression in both mouse models and human cartilage explants. ABSTRACT The avascular nature of cartilage hinders drug delivery for osteoarthritis (OA) therapy.
Hui Zheng   +9 more
wiley   +1 more source

Unraveling the metabolomic architecture of autism in a large Danish population-based cohort

open access: yesBMC Medicine
Background The prevalence of autism in Denmark has been increasing, reaching 1.65% among 10-year-old children, and similar trends are seen elsewhere.
Filip Ottosson   +13 more
doaj   +1 more source

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

open access: yesFrontiers in Genetics
BackgroundInborn errors of metabolism (IEMs) are rare diseases caused by inherited defects in various biochemical pathways that strongly correlate with early neonatal mortality and stunting. Currently, no studies have reported on the incidence of IEMs of
Gang Xiao   +10 more
doaj   +1 more source

Heat‐Suppressing Projection Two‐Photon Lithography Enables High‐Throughput Sub‐Micrometer Manufacturing of Biopolymer Hydrogels for Tissue Engineering

open access: yesAdvanced Science, EarlyView.
The iLEAP technique integrates high‐throughput two‐photon lithography with extrusion printing, bridging sub‐micrometer precision and macroscopic scaffold fabrication. By employing a low‐exothermic photoinitiator, it mitigates thermal damage to biopolymers and preserves bioactivity.
Qifeng Guan   +11 more
wiley   +1 more source

Neonatal screening for cystic fibrosis using blood trypsin with complementary meconium lactase: an advisable strategy for the population of southern Europe

open access: yes, 1995
Introduction: Neonatal screening for cystic fibrosis (CF) is now included in several newborn screening programs, based on the view that early presymptomatic diagnosis and therapy for CF reduces the morbidity and mortality from that disease.
Pedrotti D   +6 more
core   +1 more source

Newborn screening for thyroid-stimulating hormone as an indicator for assessment of iodine status in the Republic of Macedonia [PDF]

open access: yesJournal of Medical Biochemistry, 2016
Background: Iodine deficiency is associated with goiter and impaired brain function leading to cretinism. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mIU/L on newborn screening points toward an impaired iodine status ...
Anastasovska Violeta, Kocova Mirjana
doaj  

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

open access: yesBMC Medical Genetics, 2019
Background Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene.
Yiming Lin   +8 more
doaj   +1 more source

m6A‐Driven Pexophagy Triggers Placental Ferroptosis to Impair Fetal Growth Upon Environmental Stress

open access: yesAdvanced Science, EarlyView.
Prenatal environmental stress exposure promotes m6A modification to drive PEX2‐dependent pexophagy, thereby causing placental ferroptosis and FGR. ABSTRACT The role and underlying mechanisms of placental ferroptosis in fetal growth restriction (FGR) induced by environmental stress remain poorly understood.
Xin‐Xin Zhang   +18 more
wiley   +1 more source

GH Therapy in Non–Growth Hormone-Deficient Children

open access: yesChildren
Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD).
Chiara Guzzetti   +3 more
doaj   +1 more source

Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

open access: yesBMC Pediatrics, 2018
Background Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM).
Chi-Ju Yang   +8 more
doaj   +1 more source

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