Results 171 to 180 of about 321,086 (317)

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Diversity of clonal types of Klebsiella pneumoniae causing infections in intensive care neonatal patients in a large urban setting. [PDF]

Braz J Microbiol, 2019
Justo-da-Silva LH, De-Azeredo AN, Bueno AC, Montezzi LF, Leobons MBGP, Alves MS, de Souza Inhaquite P, Santos RR, Girão VBC, da Cunha AJLA, Pessoa-Silva CL, Picão RC, Hofer CB, Santoro-Lopes G, Riley LW, Moreira BM.   +15 more
europepmc   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

The effects of maternal voice on pain during placement of peripherally inserted central catheter in neonates

Frontiers in Pain Research
BackgroundPeripherally inserted central catheter (PICC) are a necessary procedure for preterm newborns care. Despite the use of analgesic treatments, its insertion can be painful.
Audrey Flours, Fabienne Mons, Antoine Bedu, Thomas Lauvray, Anne-Laure Blanquart, Jean-Baptiste Woillard, Jean-Baptiste Woillard, Audrey Mowendabeka, Vincent Guigonis, Laure Ponthier, Laure Ponthier   +10 more
doaj   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

The Special Care Nursery [PDF]

, 2012
Providing services to high-risk infants and their families in the neonatal intensive care unit is a complex subspecialty of pediatric physical therapy requiring knowledge and skills beyond the competencies for entry into practice.
Blanchard, Yvette, Kahn-D’Angelo, Linda, McManus, Beth   +2 more
core   +1 more source

Hidden Harlequin syndrome in neonatal and pediatric VA-ECMO

Critical Care, 2022
Yael Levy, Julie Starck, Anne-Lise Mary, Yohan Soreze, Sandrine Jean, Bernard Kreitmann, Pierre-Louis Léger, Jerome Rambaud   +7 more
doaj   +1 more source

Application of humanized mice in the safety experiments of antibody drugs

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract of this review highlights the critical role of humanized mice in the safety evaluation of antibody drugs. First, the inherent immunogenicity of antibody drugs can lead to the production of antidrug antibodies and hypersensitivity reactions on repeated administration.
Zhimin Sun, Mengyun Gu, Zixuan Yang, Lei Shi, Liyuan Zhao, Minhui Zheng, Yan Wang, Wei Zhang, Kexin Han, Naping Tang   +9 more
wiley   +1 more source

A Newly Defined, Common Ophthalmologic Condition Requires Special Neurological Attention

Annals of Neurology, EarlyView.
A host of acquired abnormalities in visual function are known to occur in persons who suffer stroke, traumatic brain injury, and neurodegenerative disorders. Cerebral visual impairment occurs in children with early neurological injury or disorders, especially neonatal hypoxic‐ischemic injury.
Kristina K. Hardy, Daofen Chen, Walter J. Koroshetz   +2 more
wiley   +1 more source

Am J Obstet Gynecol [PDF]

BACKGROUND:Perinatal services exist today as a dyad of maternal and neonatal care. When perinatal care is fragmented or unavailable, excess morbidity and mortality may occur in pregnant women and newborns.OBJECTIVE:The objective of the study was to ...

core