Results 11 to 20 of about 25,999 (245)

Association of Prenatal Ultrasonography and Autism Spectrum Disorder [PDF]

Obstetrical & Gynecological Survey, 2018
(Abstracted from JAMA Pediatr 2018;172(4):336–344) The prevalence of autism spectrum disorder (ASD) has increased over the past several decades. Despite ongoing identification of genetic causes, there exists mounting evidence that environmental exposures may account for a significant amount of this increase in incidence.
James DeRosa, N. Paul Rosman, Gheorghe Doros, Rachel Vassar, Rachel Vassar, Sherry Santiago, Sherry Santiago, Jodi Abbott, Audrey DiMauro, Audrey DiMauro, Allison Froman   +10 more
openaire   +4 more sources

Dandy-Walker malformation: is the "tail sign" the key sign? [PDF]

, 2015
OBJECTIVE.To demonstrate the value of the "tail sign" in the assessment of Dandy-Walker Malformation (DWM). METHODS: A total of 31fetal MRI, performed before 24 weeks of gestation after second-line US examination between May 2013 and September 2014 ...
Aliberti, C, Bernardo, Silvia, Giancotti, Antonella, Manganaro, Lucia, Porpora, Maria Grazia, Rizzo, G, Saldari, Matteo, Servadei, F, Silvestri, E, Triulzi, F, Vinci, Valeria   +10 more
core   +1 more source

Tessier number 30 clefts with congenital heart defects [PDF]

, 2015
Introduction: Midline cleft of mandible, classified as Tessier 30 clefts is extremely rare, with less than 100 reported cases in the latest studies. Variations in severity and associated malformations have been reported before. Case Presentation: In this
Aminolsharieh Najaf, S., Hasheminejad, R., Mirfazeli, A., Shafee, A., Tafreshi, M.   +4 more
core   +1 more source

Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]

, 2013
We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R, Silverman, Norman H, Solomon, Julia E, Stock, John H   +3 more
core   +2 more sources

FABP4 as a Mediator of Lipid Metabolism and Pregnant Uterine Dysfunction in Obesity

Advanced Science, EarlyView.
Obesity during late pregnancy contributes to uterine smooth muscle dysfunction, but the underlying mechanisms are unclear. This study identifies fatty acid binding protein 4 (FABP4) as a key player in the process, mediating excessive fatty acid uptake, lipid accumulation, and mitochondrial dysfunction in myometrial cells. FABP4 could be a novel uterine
Xuan Li, Huihui Yu, Ruixian Tian, Xingxing Wang, Ting Xing, Chenyi Xu, Tengteng Li, Xue Du, Qianqian Cui, Biao Yu, Yunxia Cao, Zongzhi Yin   +11 more
wiley   +1 more source

Congenital pancreatoblastoma: a case report [PDF]

, 2015
The literature describes 15 cases of congenital pancreatoblastoma (PB): 5 had prenatal diagnosis, none had metastases at diagnosis, 7 were associated with BeckwitheWiedemann syndrome (BWS).
Alaggio, Rita, Cattarossi, L., Dall'Igna, Patrizia, Gamba, Piergiorgio, Ruol, Michele, Toffolutti, Tiziana   +5 more
core   +1 more source

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Fetal Tachyarrhythmia - Part I: Diagnosis [PDF]

, 2004
Fetal tachycardia, first recognized in 1930 by Hyman et al1, is a condition occurring in approximately 0.4-0.6% of all pregnancies2. A subset of these cases with more sustained periods of tachycardia is clinically relevant.
Meijboom, Erik J, Oudijk, Martijn A, Visser, Gerard HA   +2 more
core   +10 more sources

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Ultrasonographic features of prenatal testicular torsion: Case report [PDF]

, 2013
Although prenatal testicular torsion (PNTT) is rarely observed,it is an important condition that can cause bilateralvanishing testis. Generally, PNTT cases observed asextravaginal torsion and treatment is emergency surgicalop-eration. In this article, 39
Bahattin Aydoğdu, Elif Ağaçayak
core   +1 more source