Results 41 to 50 of about 600,328 (248)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Machine learning prediction of live birth after IVF using the morphological uterus sonographic assessment group features of adenomyosis

Scientific Reports
Predicting live birth after the first IVF/ICSI treatment is challenging, as many factors may interact to affect IVF/ICSI outcomes. Adenomyosis is one factor that impacts live birth rates. Machine learning algorithms have been shown valuable for detecting
Sara Alson, Ola Björnsson, Emir Henic, Stefan R. Hansson, Povilas Sladkevicius   +4 more
doaj   +1 more source

Role of ultrasound scan in prenatal diagnosis of cloacal exstrophy

Clinical Case Reports, 2023
Cloacal exstrophy is a rare and complex ventral abdominal wall defect. Prenatal diagnosis is possible with the use of detailed ultrasound scanning. Prenatal diagnosis of an anomalous fetus helps the parents and their families in making informed decisions.
Yeshey Dorjey
doaj   +1 more source

Prenatal phenotype of Kabuki syndrome: A case series and literature review

, 2021
Objectives: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the ...
Luk, HM, Cheung, KW, Lok, WY, Hau, EW.L., Ho, S, Yu, KPT, Mak, SLA, Chung, MY, Hui, W, Lam, ST.S., So, PL, Cheng, SS.W., Lo, IF.M.   +12 more
core   +1 more source

Investigating the changes in skin color representation within US medical textbook imagery

Anatomical Sciences Education, EarlyView.
Abstract Medical education traditionally relies on textbooks with limited representation of dark skin tones, contributing to “visual racism.” This study sought to answer: “To what extent has skin‐of‐color representation changed in widely used U.S. medical textbooks over twenty years?” Older and newer editions of four widely used medical textbooks were ...
Justin Lyon, Dillon Stevens, Adriene Pavek, Annabelle Huntsman, Jennifer L. Hamilton   +4 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study

Scientific Reports
Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype–phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal
Jianlong Zhuang, Na Zhang, Yu’e Chen, Yuying Jiang, Xinying Chen, Wenli Chen, Chunnuan Chen   +6 more
doaj   +1 more source

Health and Economic Impacts of an Early Labor Induction Policy for High‐BMI Mothers

Health Economics, EarlyView.
ABSTRACT We expand the literature on marginal returns to birth interventions by studying a common intervention: early induction of labor for a growing share of pregnancies, high‐Body Mass Index (BMI) women. We exploit Danish guidelines which recommend routine induction at 7 days after the expected due date instead of 10–13 days after for mothers with a
Louis Freget, Maria Koch Gregersen
wiley   +1 more source

Cost‐effectiveness of a randomized controlled trial comparing low‐dose aspirin to placebo for the prevention of recurrent preterm birth

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 399-407, April 2025.
Abstract To assess the cost‐effectiveness of low‐dose aspirin compared to placebo for the prevention of recurrent preterm birth from a healthcare perspective. This was a cost‐effectiveness analysis alongside a multicenter, randomized, double‐blinded, placebo‐controlled trial.
Anadeijda J. E. M. C. Landman, Hana M. Broulikova, Laura Visser, Tobias A. J. Nijman, Marieke A. C. Hemels, Karin C. Vollebregt, Elisabeth M. A. Boormans, Henk A. Bremer, Esther Tuinman, Josje Langenveld, Flip van der Made, Robbert J. P. Rijnders, Huib A. A. M. van Vliet, Liv M. Freeman, Roel de Heus, Judith Blaauw, Ineke Krabbendam, Rafli van de Laar, Marieke F. G. Verberg, Hubertina C. J. Scheepers, Ben W. Mol, Christianne J. M. de Groot, Martijn A. Oudijk, Judith E. Bosmans, Marjon A. de Boer   +24 more
wiley   +1 more source

Gout in pregnancy: Obstetric and neonatal outcomes

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 349-355, April 2025.
Abstract Objective The pregnancy, delivery, and neonatal outcomes of pregnancies complicated by gout have yet to be evaluated in a population‐based study. We sought to evaluate the obstetric and neonatal outcomes in pregnant patients with gout using a national population database.
Sam Amar, Ahmad Badeghiesh, Haitham Baghlaf, Michael H. Dahan   +3 more
wiley   +1 more source