Results 131 to 140 of about 527,198 (412)

Medication Use in the Neonatal Intensive Care Unit and Changes from 2010-2018.

open access: yesJornal de Pediatria, 2021
A. Stark   +9 more
semanticscholar   +1 more source

Routine application of lung ultrasonography in the neonatal intensive care unit

open access: yesMedicine, 2017
The aim of this study was to study the features of lung ultrasonography (LUS) in lung disease and to evaluate the usefulness of LUS in the neonatal intensive care unit (NICU).
Shui-wen Chen   +3 more
semanticscholar   +1 more source

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome

open access: yesAmerican Journal of Hematology, EarlyView.
Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.
Paola Quarello   +29 more
wiley   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio   +12 more
wiley   +1 more source

Association Between Maternal Subclinical Hypothyroidism and Growth Discordance in Twin Gestations: A Retrospective Study

open access: yesInternational Journal of Women's Health
Bing Zhang,1 Xiaoqin Chen,1 Xiaoxiao Zhao,1 Junbao Wu,1 Pan Qi,2 Weixing Zhang1 1Department of Neonatal Intensive Care Unit, Xinxiang Central Hospital, Xinxiang, Henan, 453000, People’s Republic of China; 2Department of Surgical Oncology, Xinxiang ...
Zhang B   +5 more
doaj  

Prospective validation of neonatal vancomycin dosing regimens is urgently needed

open access: yesCurrent Therapeutic Research, 2014
Background: Although vancomycin is frequently used to treat neonatal late-onset sepsis, there is no consensus on the optimal dosing regimen. Because many neonates needed dosing adaptation due to suboptimal trough values, the vancomycin dosing regimen in ...
Anaïs Vandendriessche, MD   +5 more
doaj   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

Floppy Infant Syndrome: new approach to the study of neonatal hypotonia through the analysis of a rare case of X-Linked Myotubular Myopathy

open access: yesJournal of Pediatric and Neonatal Individualized Medicine, 2014
The Floppy Infant Syndrome includes a variety of signs and symptoms: decrease in muscle tone (hypotonia), in muscle power (weakness) and ligamentous laxity and increased range of joint mobility.
Massimiliano De Vivo   +4 more
doaj   +1 more source

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