Results 91 to 100 of about 149 (144)

Ketogenic diet therapy for epilepsy during pregnancy and lactation: An international survey exploring clinician perspectives

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic diet therapies (KDTs) are increasingly used as a treatment for people with epilepsy of childbearing potential (PWECP) and glucose transporter type 1 deficiency syndrome (Glut1DS). The aim of this study was to collect information on clinical experience with KDT during pregnancy and lactation in these populations.
Kelly Faltersack, Tanya J. W. McDonald, Valentina De Giorgis, Bobbie Barron, Mackenzie C. Cervenka, Anita Devlin, Laura A. Healy, Magnhild Kverneland, Elles van der Louw, Mengyang Lu, Martina P. Zanaboni, Marisa Armeno, Elizabeth A. Felton   +12 more
wiley   +1 more source

Applications and Challenges of Auditory Brain‐Computer Interfaces in Objective Auditory Assessments for Pediatric Cochlear Implants

Exploration, EarlyView.
Auditory brain‐computer interface connects the brain with external devices and decodes neural signals related to auditory perception. Time‐domain and frequency‐domain analyses are commonly used to identify biomarkers associated with auditory rehabilitation, such as cortical auditory evoked potentials and mismatch negativity.
Qi Zheng, Yubo Wu, Jianing Zhu, Kunyun Feng, Yanru Bai, Guoping Li, Guangjian Ni   +6 more
wiley   +1 more source

Cataract‐Causing Mutant R188C of βB2 Crystallin With Low Structural Stability is Sensitive to Environmental Stresses and Prone to Aggregates Formation

Exploration, EarlyView.
This study investigated the role of the βB2‐crystallin c.562C>T (p.R188C) mutation in congenital cataract. Clinical pedigree analysis, combined with whole‐exome sequencing (WES), identified this pathogenic variant. Bioinformatic analyses predicted destabilization of the mutant protein’s tertiary structure, potentially impairing its function.
Yibo Yu, Silong Chen, Ying Zhang, Hang Song, Jiarui Guo, Chengpeng Wu, Wei Wu, Jingjie Xu, Xiaoyu Cheng, Chenqi Luo, Jing Guo, Yip Chee Chew, Ke Yao, Xiangjun Chen, Lidan Hu   +14 more
wiley   +1 more source

Congenital Abnormality of the Rectum [PDF]

Proceedings of the Royal Society of Medicine, 1933
openaire   +3 more sources

Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency

Head &Neck, EarlyView.
ABSTRACT Background GATA2 deficiency is a rare genetic disorder associated with hematologic, infectious, and neoplastic complications. We report a case of a patient with GATA2 deficiency who developed aggressive squamous cell carcinoma (SCC) of the head and neck, an atypical manifestation of this condition.
Brejjette Aljabi, James A. Stewart, Kirk Withrow, Carissa M. Thomas   +3 more
wiley   +1 more source

Research status of fetal hydrocephalus from 2003 to 2022 based on bibliometric analysis

Ibrain, EarlyView.
In this study, we extracted 613 articles related to hydrocephalus from the Web of Science Core Collection (WOSCC) database published from January 01, 2003 to December 31, 2022, and 613 articles were obtained after weight reduction using CiteSpace. CiteSpace and VOSviewer software were used to extract and visualize the elements of the article, including
Qian Li, Zheyu Song, Chenyang Zhai, Sajid Hussain, Wenxue Zhao, Shunwu Xiao   +5 more
wiley   +1 more source

Prenatal diagnosis and clinical pregnancy outcome of fetuses with conotruncal defects in a Chinese cohort

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study aimed to explore genetic etiologies of conotruncal defects (CTDs) in fetuses by analyzing the results of different genetic tests and to assess pregnancy outcomes of fetuses with CTD in a Chinese prenatal cohort. Methods A total of 146 fetuses that underwent invasive prenatal genetic testing for CTD at the prenatal ...
Min Li, Yi Wu, Yiyao Chen, Hui Wang, Weiwei Cheng, Baoying Ye   +5 more
wiley   +1 more source

Accuracy of ultrasound estimation of fetal weight in twin pregnancy

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To determine the accuracy of formulas for estimation of fetal weight in twin pregnancy. Methods Inclusion criteria from the ESPRiT twin cohort were twin pregnancies that resulted in live‐born twins without congenital anomalies or twin‐twin transfusion syndrome, ultrasound examination within 3 days of delivery, birth weight (BW) > 500 
Patrick Dicker, Ronan Conroy, Fionnuala McAuliffe, Michael Geary, Sean Daly, John J. Morrison, Stephen Carroll, Fergal D. Malone, Fionnuala M. Breathnach   +8 more
wiley   +1 more source

Relationships of maternal hemodynamics in the third trimester with fetal umbilical artery doppler indices, estimated fetal weight and birth weight in women with and without congenital heart disease

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To compare differences in maternal hemodynamics, measured non‐invasively by impedance cardiography and mean arterial blood pressure (MAP)—at rest and with high‐intensity exercise—between pregnant women with corrected congenital heart disease (CHD) and low‐risk (LR) pregnant controls, and to correlate these findings with umbilical ...
Francois Dos Santos, Ellen Barr, Philip J. Steer, Mark R. Johnson   +3 more
wiley   +1 more source

FIGO guideline on liver disease and pregnancy

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract The number of women entering pregnancy with chronic liver disease is rising. Gestational liver disorders affect 3% of the pregnant population. Both can be associated with significant maternal and fetal morbidity and mortality. European guidance has recently been published to inform management.
Melanie Nana, Virna Medina, Cynthia Maxwell, Ciara McCormick, Gloria Taliani, Ulrich Beuers, Deborah Money, Bo Jacobsson, Anil Kapur, Titus Beyuo, Francisco Ruiloba, Graeme Smith, Lina Bergman, Sharleen O'Reilly, Patrick O'Brien, Mark Hanson, Mary Rosser, Claudio Sosa, Sumaiya Adam, Valerie Guinto, Liona Poon, Fionnuala McAuliffe, Catherine Williamson, on behalf of the FIGO Committee on Impact of Pregnancy on Long‐term Health, FIGO Committee on Infections during Pregnancy and the FIGO Division of Maternal and Newborn Health   +24 more
wiley   +1 more source