Results 71 to 80 of about 13,108 (240)

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]

, 2017
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda, Bernardo, Silvia, Catalano, Carlo, DE VITO, Corrado, Di Meglio, L, Giancotti, Antonella, Manganaro, Lucia, Marchionni, Enrica, Pizzuti, Antonio, Saldari, Matteo, Silvestri, E, Vinci, Valeria   +11 more
core   +1 more source

Fetal Heart Rate at 12 Weeks' Gestation and the Risk of Preterm Birth

Journal of Ultrasound in Medicine, EarlyView.
Objectives To prospectively validate the association between fetal heart rate (FHR) at the 12‐week scan and the risk of preterm birth (PTB), including spontaneous preterm birth (sPTB). Methods This prospective cohort study included 1276 singleton pregnancies undergoing routine first‐trimester screening at 11–13 + 6 weeks' gestation and followed until ...
José Morales‐Roselló, Alicia Soriano‐Payá, Blanca Novillo‐Del Álamo, Alicia Martínez‐Varea   +3 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Síndrome da banda amniótica: relato de caso Amniotic band syndrome: case report

Revista Brasileira de Ortopedia, 2011
A síndrome da banda amniótica é uma desordem congênita rara que pode resultar em defeitos corporais diversos (bandas de constrição, amputação, deformidades craniofaciais, anomalias viscerais etc).
Francisco Carlos Salles Nogueira, Robert Bicalho da Cruz, Leonardo Pelucci Machado, Bernardo Luiz Fornaciari Ramos, João Lopo Madureira Júnior, Roberto Zambelli de Almeida Pinto   +5 more
doaj   +1 more source

Developing and understanding biofluid vibrational spectroscopy : a critical review [PDF]

, 2015
Vibrational spectroscopy can provide rapid, label-free, and objective analysis for the clinical domain. Spectroscopic analysis of biofluids such as blood components (e.g.
Baker, Matthew J., Hughes, Caryn, Hussain, Shawn R., Lovergne, Lila, Lukaszewski, Roman A., Sockalingum, Ganesh D., Thiéfin, Gérard, Untereiner, Valérie   +7 more
core   +1 more source

A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts

Pediatric Discovery, EarlyView.
ABSTRACT Cleft lip (CL) and cleft palate (CP), collectively referred to as orofacial clefts (OFCs), are among the most common birth defects and can have significant effects on speech, nutrition, and physical and psychosocial development. Manifestation, classification, and treatment plans of OFCs are diverse and not standardized.
Emily Kim, Rebeka Dejenie, Caroline Kim, Russell Reid   +3 more
wiley   +1 more source

Foetal Ureaplasma parvum bacteraemia as a function of gestation-dependent complement insufficiency: Evidence from a sheep model of pregnancy [PDF]

, 2016
Problem Complement is a central defence against sepsis, and increasing complement insufficiency in neonates of greater prematurity may predispose to increased sepsis. Ureaplasma spp. are the most frequently cultured bacteria from preterm blood samples.
Aboklaish, Ahmed, Beeton, Cassell, Castillo-Melendez, Cummings, Dean, Dunkelberger, Gokce, Goldenberg, Goldenberg, Hillman, Kemp, Kemp, Källman, Maneenil, McGreal, Moss, Moulton, Paralanov, Payne, Sammin, Strunk, Viscardi, Wolfs, Wolfson, Zhang   +26 more
core   +5 more sources

Population Pharmacokinetics and Transfer of Gabapentin When Used as a Pain Adjunct for Cesarean Deliveries

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 551-560, March 2025.
ABSTRACT Enhanced Recovery After Surgery (ERAS) protocols for cesarean deliveries (CDs) utilize multimodal pain management strategies that often include gabapentin. While gabapentin is excreted in breast milk, its pharmacokinetics in immediately postpartum lactating women are not known. This observational pharmacokinetic study (NCT05099484) enrolled 21
Rebecca Silvola, Aislinn O'Kane, Michael Heathman, Hannah Marotta, Hayley Trussel, Bobbie Ray, Shelley Dowden, Andrea R. Masters, David M. Haas, Sara K. Quinney   +9 more
wiley   +1 more source