Results 201 to 210 of about 384,008 (281)

Neonatal sepsis and its associated factors among asphyxiated newborns admitted in West Oromia Tertiary Hospitals, Ethiopia. [PDF]

Sci Rep
Daka DT, Terefe B, Gedefaw GD, Abate AT, Legesse BT.   +4 more
europepmc   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Reducing Laboratory Testing and Blood Draws in the Newborn Nursery to Increase High-value Care. [PDF]

Pediatr Qual Saf
Foster LZ, Natale L, Lukaszewicz J, Kleynerman M, Colameco J, Weckesser J, Ortale C, Haines E.   +7 more
europepmc   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Alterations in epigenetic marks and expression of genes related to stress regulation: an exploratory study among newborns after fetal repair of spina bifida aperta. [PDF]

Epigenetics
Landolt MA, Strebel NL, Moehrlen U, Ochsenbein N, Strübing N, Burkhardt T, D'Addario C, Pucci M, Bodenmann A, Grünblatt E.   +9 more
europepmc   +1 more source

The Case Against Mandatory HIV Testing of Pregnant Women: The Legal and Public Policy Implications [PDF]

, 1998
McMillion, Evans
core   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Universal Newborn Screening for Congenital Cytomegalovirus Using Dried Blood Spot Specimens.

JAMA Netw Open
Tavakoli NP, Sack V, Handel AS, Giacinto A, Pearce M, Ojukwu I, McManaman C, St-Pierre M, DiAntonio L, Saavedra-Matiz C, Brandon CJ, Steen L, Salvatore CM, Sood S, Piwoz JA, John M, DeLaMora P, Nolan SM, Ungar SP, Weiner LB, Daniels D, Nayak JL, Quinn M, Weinberg GA, Hicar MD, Rebello G, Taormina G, Daniel JM, Hymes S, Nachman S, Bradley S, Kay DM, Caggana M.   +32 more
europepmc   +1 more source

Young adult perspectives regarding receiving medically actionable gene testing results for newborns: A qualitative investigation. [PDF]

J Community Genet
Martinez D, Madhiri E, Li M, Wang H, Meng X, Wade CH, Chen LS.   +6 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source