Results 181 to 190 of about 241,631 (348)

The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa

Prenatal Diagnosis, EarlyView.
ABSTRACT Introduction Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low‐ and middle‐income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain ...
Megan Duvenhage, Katryn Fourie, Monica Araujo   +2 more
wiley   +1 more source

Reduced perinatal mortality following enhanced training of birth attendants in the Democratic Republic of Congo: a time-dependent effect [PDF]

, 2011
Richard Matendo, Cyril Engmann, John Ditekemena, Justin Gado, Antoinette Tshefu, Rinko Kinoshita, Elizabeth M. McClure, Janet Moore, Dennis Wallace, Waldemar A. Carlo, Linda L. Wright, Carl Bose   +11 more
openalex   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Prenatal Diagnosis and Management of Kaposiform Hemangioendothelioma With Kasabach–Merritt Phenomenon: Imaging Features and First Experience With Maternal Sirolimus Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the prenatal diagnosis, evolution, and perinatal management of kaposiform hemangioendothelioma (KHE) complicated by the Kasabach–Merritt phenomenon (KMP), and to report the first documented use of maternal sirolimus therapy (MST) in this setting. Methods We retrospectively reviewed four fetuses with a prenatal soft‐tissue
Antoine Fraissenon, Chris Minella, Marion Bordas‐Fournel, Anne Gaëlle Grebille, Olivia Boccara, Marie Cassart, Sarah Simon‐Locatelli, Gwenaelle André, Guillaume Canaud, Alexandre Guilhem, Sara Cabet, Laurent Guibaud   +11 more
wiley   +1 more source

Birth intervals and the risk of perinatal mortality in Indonesia: findings from a cross-sectional study. [PDF]

BMJ Open
Gayatri M, Kistiana S, Puspitasari MD, Nasution SL.   +3 more
europepmc   +1 more source

Alterations in Metabolites Associated With Umbilical Cord Blood in Monozygotic Twins Discordant for Congenital Heart Disease

Pediatric Discovery, EarlyView.
This study found that the metabolomic signature of umbilical venous cord blood in congenital heart disease (CHD) differs from that of healthy monozygotic (MZ) co‐twins. Dysregulation of metabolic pathways like glucose, lipid, and amino acid metabolism, along with altered metabolites, helps understand CHD predisposition.
Fang Xiang, Xiao Yuan, Yi Yang, Philip N. Baker, Mark D. Kilby, Chao Tong, Xi Yuan   +6 more
wiley   +1 more source

Additional file 1: of Differences in perinatal and infant mortality in high-income countries: artifacts of birth registration or evidence of true differences?

, 2015
Paromita Deb-Rinker, Juan León, Nicolas L. Gilbert, Jocelyn Rouleau, Anne-Marie Andersen, Ragnheiður Bjarnadóttir, Mika Gissler, Laust Mortensen, Rolv Skjærven, Stein Vollset, Xun Zhang, Prakesh Shah, Reg Sauvé, Michael Kramer, K J Joseph   +14 more
openalex   +1 more source

Antenatal Care and Perinatal Mortality in Low- and Middle-Income Countries: Insights for Maternal and Newborn Health System. [PDF]

Mayo Clin Proc Innov Qual Outcomes
Abate BJ, Abebe SA, Alemaw HB, Tefera AT, Tarekegn YA, Liyew B, Adane KC, Tadesse MS, Chanie Agimas M.   +8 more
europepmc   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

The transformative potential of artificial intelligence in pediatric medicine: Current applications, methodological challenges, and future directions

Pediatric Investigation, EarlyView.
Artificial intelligence (AI) offers transformative potential for paediatric diagnosis and treatment, yet implementation faces unique challenges, including data scarcity, algorithmic bias, and children's developmental physiology. This review examines current applications and charts a path toward transparent, equitable, and trustworthy AI in child health.
Ruisong Wang, Xiaoman Ding, Wanyue Zhang, Tieliu Shi   +3 more
wiley   +1 more source