Results 231 to 240 of about 266,608 (313)

Can we predict which cryptorchidism will descend? A cohort study in 976 Korean neonates. [PDF]

Investig Clin Urol
Jeong Y, Lim DG, Yu SH, Chung HS, Kim SO.   +4 more
europepmc   +1 more source

Withholding Treatment From Neonates

, 1994

core  

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Clinical, Electrocardiographic, Biochemical, and Echocardiographic Markers for Diagnosing Cardiac Dysfunction in Neonates with Hypoxic-Ischemic Encephalopathy: A Narrative Review. [PDF]

Children (Basel)
Tatagiri S, Chan B, Singh Y.
europepmc   +1 more source

Overtreatment of Neonates

, 1993
Fleischman, Alan R., Weil, William B., Gartner, Lawrence M., Hunt, Andrew D.   +3 more
core  

Basophilic Stippling Unmasks Pyrimidine 5′‐Nucleotidase Deficiency in a G6PD‐Deficient Patient

American Journal of Hematology, EarlyView.
Victor Bobée, Stéphane Moutereau, Maïssa Souissi, Pierre Lebreton, Loïc Garcon   +4 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Extracorporeal Membrane Oxygenation Outside the Operating Room in Neonates and Infants. [PDF]

Interdiscip Cardiovasc Thorac Surg
Shibagaki K, Tominaga Y, Takeshita M, Watanabe T, Nakamizo M, Kamiya H, Iwai S.   +6 more
europepmc   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Reducing unnecessary antibiotic exposure among neonates evaluated for suspected early-onset sepsis through an adapted risk-stratification and antimicrobial stewardship pathway in northwest Ethiopia: a prospective quality improvement study. [PDF]

BMJ Paediatr Open
Kassaw AT, Tarekegn GY, Mussie DA, Wondm SA, Moges TA, Zewdu WS, Minlarg E, Sisay T, Dagnew SB, Zerihun TE.   +9 more
europepmc   +1 more source