Results 81 to 90 of about 4,210 (197)

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

Developmental Dynamics, EarlyView.
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu, Katja R. MacCharles, Kenneth Kin Lam Wong, Joy M. Richman, Esther M. Verheyen   +4 more
wiley   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Bone marrow abnormalities in HIV infected children, report of three cases and review of the literature

Journal of Research in Medical Sciences, 2014
Bone marrow abnormalities in HIV infected adults include hypocellularity, myelodysplasia and poor marrow recovery. Data in children is limited. We report a series of three HIV infected with varied bone marrow abnormalities.
Ira Shah, Anuradha Murthy
doaj  

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Maternal diabetes mellitus during pregnancy as a risk factor for strabismus and refractive errors in the offspring—A large‐scale national study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To investigate whether maternal diabetes during pregnancy is associated with increased risk of strabismus and refractive errors (RE) in their offspring. Methods This retrospective cohort study utilized electronic medical records from Clalit Health Services (CHS) in Israel, 2001–2023. Births were categorized by maternal diabetes type (
Nir Amitai, Tomer Kerman, Tamar Eshkoli, Ahed Imtirat, Amichai Raz, Itamar Ben Shitrit, Dor Marciano, Eyal Sheiner, Erez Tsumi   +8 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

Prominent Chiari Network as a Cause of Cyanosis in Infants: A Case Report and Implications for Pediatric Cardiology Practice

Journal of Clinical Ultrasound, EarlyView.
A prominent Chiari network can cause cyanosis in infants by inducing a positional right‐to‐left atrial shunt. Accurate diagnosis enabled conservative management, delaying surgery until optimal conditions. This case emphasizes the importance of echocardiographic evaluation in differentiating cyanosis mechanisms to guide appropriate treatment in ...
Carmen Rodríguez‐Barrios, Irene Gutierrez‐Rosa, Moises Rodriguez‐Gonzalez   +2 more
wiley   +1 more source

Diagnostic Performance of Standardized First Trimester Fetal Echocardiography for the Detection of Congenital Heart Defects

Journal of Clinical Ultrasound, EarlyView.
First trimester fetal echocardiography has high detection rates for early diagnosis of severe congenital heart defects. Standardized first trimester fetal echocardiography may allow early diagnosis of fetuses with congenital heart defects and contribute to the appropriate management of these pregnancies.
Münip Akalın, Emine Eda Akalın, Merve Kara, Esra Esim Büyükbayrak   +3 more
wiley   +1 more source

Ultrasound‐Based Z Score and Pulmonary Valve/Aortic Valve Diameter Ratio Improving the Predictive Value of Fetal Aortic Stenosis

Journal of Clinical Ultrasound, EarlyView.
A total of 24 singleton fetuses with suspected AS who underwent two or more fetal echocardiograms were enrolled in this study. Using electronic spatiotemporal image correlation (eSTIC) technology, the AV and PV Z scores, along with the PV/AV ratio, were measured and compared between two echocardiographic examinations to assess diagnostic efficacy ...
M. Heqing Guo, M. Hua Yuan, M. Bowen Zhao, B. Qiqi Hua, B. Linhua Wang   +4 more
wiley   +1 more source