Results 81 to 90 of about 333,865 (295)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Effects of intrathecal opioids use in cesarean section on breastfeeding and newborns’ weight gaining [PDF]

, 2016
Objective: To assess the association between intrapartum intrathecal opioid use and breastfeeding and weight gain following cesarean section. Materials and methods: The prospective double-blinded study was conducted on term pregnant women, undergoing ...
Anbarafshan, Mohammad, Davari-Tanha, Fatemeh, Kaveh, Mahbod, Khashayar, Patricia, Najafi, Atabak, Rezaei Hemami, Mohsen, Yousefshahi, Fardin   +6 more
core   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Association between pregnancy intention and completion of newborn and infant continuum of care in Sub-Saharan Africa: systematic review and meta-analysis

BMC Pediatrics
Background The newborn and infant continuum of care such as essential newborn care, early initiation and exclusive breastfeeding, and immunisation are highly recommended for improving the quality of life and survival of infants.
Birye Dessalegn Mekonnen, Vidanka Vasilevski, Ayele Geleto Bali, Linda Sweet   +3 more
doaj   +1 more source

A QUALITY IMPROVEMENT STUDY OF THE implimentation of the VERMONT NEWBORN PLAN OF SAFE CARE AMONG NURSING STAFF AT VERMONT HOSPITALS [PDF]

, 2019
PURPOSE: The purpose of this quality improvement needs assessment was to evaluate the implementation of the Vermont Newborn Plan of Safe Care (VNPSC) since its introduction 17 months ago. These plans were created in response to federal mandates to create
Buley, Annik
core   +1 more source

Processing acoustic change and novelty in newborn infants [PDF]

, 2007
Research on event-related potential (ERP) correlates of auditory deviance-detection in newborns provided inconsistent results; temporal and topographic ERP characteristics differed widely across studies and individual infants.
Alho, Alho, Carral, Cheour, Cheour, Courchesne, Csépe, Dehaene-Lambertz, Dehaene-Lambertz, Escera, Escera, Escera, Fellman, Friederici, Friedman, Goswami, Gumenyuk, Hirasawa, Kuhl, Kurtzberg, Kurtzberg, Kushnerenko, Kushnerenko, Leppänen, Leppänen, Lewkowicz, Lewkowicz, Martynova, Morr, Nelson, Näätänen, Näätänen, Näätänen, Näätänen, Näätänen, Paetau, Pang, Perez-Gonzalez, Picton, Ponton, Ruusuvirta, Räikkönen, Schröger, Shahin, Sharma, Squires, Trainor, Turkewitz, Turkewitz, Ulanovsky, Werker, Werner, Werner, Winkler, Zhang, Čeponienė, Čeponienė   +56 more
core   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Female reproductive strategies and mother-calf relationships of common dolphins (Delphinus delphis) in the Hauraki Gulf, New Zealand : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Zoology at Massey University, Albany, New Zealand [PDF]

, 2004
This study reviewed the habitat use, social organisation and behaviour of common dolphin groups categorised by their youngest member, as well as the behaviour of common dolphin calves of different age classes.
Schaffar-Delaney, Aline
core  

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Anti-K1 (Kell) Antibody Expressed in Maternal Breastmilk: A Case Report of a Neonate with Multiple Intrauterine Transfusions and Postnatal Exposure to Kell Antibody in Maternal Breastmilk

Case Reports in Pediatrics, 2017
Hemolytic disease of the fetus and newborn is a common consideration in newborn medicine, especially among the jaundiced. Maternal breastmilk provides numerous benefits to the infant, including nutrition and immunologic factors.
Patrick DeMoss, Mohamed Asfour, Kelly Hersey   +2 more
doaj   +1 more source