Results 11 to 20 of about 39,081 (287)
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023 Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker +9 more
wiley +1 more source
Prevalence of congenital heart defects in Europe, 2008–2015: A registry‐based study
Birth Defects Research, Volume 114, Issue 20, Page 1404-1416, December 1, 2022., 2022 Abstract Background The total prevalence of congenital heart defects (CHDs) varies by populations and over time. Studies that examine trends in the prevalence of CHD in different regions may shed light on our understanding of the occurrence of CHD and the impact of different risk factors.
Chrysovalanto Mamasoula +27 more
wiley +1 more source
Destabilization of mutated human PUS3 protein causes intellectual disability
Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022 The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin +17 more
wiley +1 more source
Interrupted aortic arch diagnosed with loss of femoral pulse in a patient undergoing patent ductus arteriosus ligation -A case report- [PDF]
Korean Journal of Anesthesiology, 2010 A 12-year-old boy with ventricular septal defect and patent ductus arteriosus was presented to the operating room. Upon clamping the patent ductus arteriosus, the femoral arterial pressure curve was lost; however, it returned upon unclamping.
Hyun-Jeong Kwak +5 more
doaj +1 more source
Romanian Journal of Cardiology, 2023 In most term neonates, the ductus arteriosus closes functionally on the first day of life, and a permanently open ductus arteriosus is abnormal.
Noori Noor Mohammad +4 more
doaj +1 more source
Handwriting and Drawing for Depression Detection: A Preliminary Study [PDF]
, 2023 The events of the past 2 years related to the pandemic have shown that it is increasingly important to find new tools to help mental health experts in diagnosing mood disorders. Leaving aside the longcovid cognitive (e.g., difficulty in concentration) and bodily (e.g., loss of smell) effects, the short-term covid effects on mental health were a ...
arxiv +1 more source
Isolated Dissection of the Ductus Arteriosus Associated with Sudden Unexpected Intrauterine Death
Journal of Cardiovascular Development and Disease, 2021 We report five cases of sudden intrauterine death due to premature closure of the ductus arteriosus. In four cases, this was caused by dissecting the hematoma of the ductus arteriosus with intimal flap and obliteration of the lumen.
Marny Fedrigo +9 more
doaj +1 more source
CPT: Pharmacometrics &Systems Pharmacology, Volume 12, Issue 1, Page 110-121, January 2023., 2023 Abstract Indomethacin is used commonly in preterm neonates for the prevention of intracranial hemorrhage and closure of an abnormally open cardiac vessel. Due to biomedical advances, the infants who receive this drug in the neonatal intensive care unit setting have become younger, smaller, and less mature (more preterm) at the time of treatment.
Wojciech Krzyzanski +7 more
wiley +1 more source
CPT: Pharmacometrics &Systems Pharmacology, Volume 12, Issue 1, Page 13-26, January 2023., 2023 Abstract The pharmacokinetics (PKs) and safety of medications in particular groups can be predicted using the physiologically‐based pharmacokinetic (PBPK) model. Using the PBPK model may enable safe pediatric clinical trials and speed up the process of new drug research and development, especially for children, a population in which it is relatively ...
Xu Zhou +5 more
wiley +1 more source
Transcriptional profiles in the chicken ductus arteriosus during hatching.
PLoS ONE, 2019 The ductus arteriosus, an essential embryonic blood vessel between the pulmonary artery and the descending aorta, constricts after birth or hatching and eventually closes to terminate embryonic circulation. Chicken embryos have two long ductus arteriosi,
Toru Akaike +5 more
doaj +1 more source