Results 41 to 50 of about 10,838 (199)

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Gamma SARS‐CoV‐2 variant of concern infection repercussions on pregnancy outcomes: A translational cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study conduct viral genome sequencing among severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2)‐infected pregnant and postpartum individuals, and investigates disease severity and maternal and perinatal outcomes considering variant of concern (VOC) and non‐VOC groups.
Guilherme M. Nobrega, Fabiana Granja, Mariene R. Amorim, Luciana S. Mofatto, Daniel A. Toledo‐Teixeira, Julia Forato, Priscilla P. Barbosa, Jose Paulo S. Guida, Adriana G. Luz, Giuliane J. Lajos, Carolina C. Ribeiro‐do‐Valle, Gisele A. Pedroso, Kamila C. S. Krywacz, Angelica Z. Schreiber, Giuliana D. Moreno, Rodrigo N. Angerami, Maria Luiza Moretti, Rodolfo C. Pacagnella, Renato T. Souza, Jose Guilherme Cecatti, Rodrigo G. Stabeli, Magnun N. N. Santos, Fernando R. Spilki, Ester C. Sabino, Nuno R. Faria, William M. de Souza, Jose Luiz Proenca‐Modena, Maria Laura Costa   +27 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Differential diagnosis of non-hydrocephalus ventricular dilation and hydrocephalus

Frontiers in Neurology
Ventriculomegaly is a common structural neuroimaging finding, yet its differentiation from hydrocephalus remains a substantial clinical challenge. Misclassification of non-hydrocephalic ventriculomegaly as hydrocephalus, or of hydrocephalus as simple ...
Ming Li, Guoyi Gao, Guoyi Gao
doaj   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

Neonatal Presentation of 49,XXXXY (Fraccaro) Syndrome with Ventriculomegaly: Expanding the Early Neuroimaging Phenotype

Pediatric Reports
49,XXXXY syndrome (Fraccaro syndrome) is a rare sex chromosome pentasomy, historically considered a severe variant within the Klinefelter spectrum. It is characterized by intellectual disability, craniofacial dysmorphism, skeletal anomalies, hypogonadism,
Gonca Vardar, Giray Girgin, Emel Kabakoglu Unsur, Gulcan Seymen   +3 more
doaj   +1 more source

Fetal Ventriculomegaly [PDF]

American Journal of Obstetrics and Gynecology, 2020
Mary E, Norton, Nathan S, Fox, Ana, Monteagudo, Jeffrey A, Kuller, Sabrina, Craigo   +4 more
openaire   +2 more sources

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Fetal Ventriculomegaly

Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2007
Abstract The causes of fetal ventriculomegaly vary. Ventriculomegaly can be caused by not only obstruction of cerebrospinal flow tract but also brain maldevelopment or other reasons. Recent advanced imaging technology and approaching technique of transvaginal sonography have contributed to an accurate prenatal diagnosis and clearly revealed fetal ...
KyongHon Pooh, Ritsuko K Pooh
openaire   +1 more source