Results 101 to 110 of about 277,988 (265)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Multimodal approach to characterize surgically removed epileptogenic zone from patients with focal drug‐resistant epilepsy: From operating room to wet lab

Epilepsia Open, EarlyView.
Abstract Objective We have established a comprehensive sample handling protocol designed for the multiscale assessment of epileptogenic tissue. This protocol aims to identify novel therapeutic targets and enhance the diagnosis and stratification of patients with drug‐resistant epilepsy, thereby optimizing their treatment with anti‐seizure medications ...
Jenni Kyyriäinen, Adriana Della Pietra, Mastaneh Torkamani‐Azar, Mireia Gómez‐Budia, Polina Abushik, Nataliia Novosolova, Henri Eronen, Omar Narvaez, Ekaterina Paasonen, Vera Lezhneva, Anssi Pelkonen, Liudmila Saveleva, Antti Huotarinen, Ilya Belevich, Eija Jokitalo, Kuopio Epilepsy Center Epilepsy Surgery Group, Leena Jutila, Tuomas Rauramaa, Arto Immonen, Ville Leinonen, Jussi Tohka, Olli Gröhn, Reetta Kälviäinen, Tarja Malm, Alejandra Sierra   +24 more
wiley   +1 more source

From Genomic Fossils to Functional Elements: The Evolving Story of Pseudogenes

Advanced Genetics, EarlyView.
This review begins with an introduction, summarizing the research background in pseudogene studies. It then contains three aspects: identification of pseudogenes, detailing their classification and features in metazoan genomes; functional pseudogenes, introducing their reactivation and regulation mechanisms; and pseudogenes’ contribution to species ...
Mengyao Sun, Yanni Ma, Jia Yu
wiley   +1 more source

Juxtaposition of the atrial appendages in a patient with a simple ventricular septal defectCentral Message

JTCVS Techniques, 2021
Julie Cleuziou, MD, PhD, MBA, Jakob Kemmer, MD, Ursula Sauer, MD, Milka Pringsheim, MD   +3 more
doaj   +1 more source

Contribution of hypoxia-inducible factor 1alpha to pathogenesis of sarcomeric hypertrophic cardiomyopathy

Scientific Reports
Hypertrophic cardiomyopathy (HCM) caused by autosomal-dominant mutations in genes coding for structural sarcomeric proteins, is the most common inherited heart disease.
Sarala Raj Murthi, Andreas Petry, Bachuki Shashikadze, Jan B. Stöckl, Manuel Schmid, Gianluca Santamaria, Karin Klingel, Damir Kračun, Xinpei Chen, Sabine Bauer, Joachim P. Schmitt, Florian Flenkenthaler, Josh Gorham, Christopher N. Toepfer, David Potěšil, Pavel Hruška, Zbyněk Zdráhal, Zsuzsanna Mayer, Mathieu Klop, Luisa Lehmann, Yishi Qin, Laura Papanakli, Nadine Spielmann, Alessandra Moretti, Thomas Fröhlich, Peter Ewert, Stefan Holdenrieder, Jonathan G. Seidman, Christine E. Seidman, Agnes Görlach, Cordula M. Wolf   +30 more
doaj   +1 more source

Epidemiology of congenital heart defects in France from 2013 to 2022 using the PMSI-MCO (French Medical Information System Program in Medicine, Surgery, and Obstetrics) database.

PLoS ONE
BackgroundCongenital heart defects are common and occur in approximately 0.9% of births. In France, the registries cover approximately 20% of the population but not the entirety of France; therefore, we aimed to update the incidence data for congenital ...
Gurvan Bourdon, Xavier Lenne, François Godart, Laurent Storme, Didier Theis, Damien Subtil, Amelie Bruandet, Thameur Rakza   +7 more
doaj   +1 more source

Doppel as an early‐stage biomarker promoting EMT and dissemination in ovarian cancers

International Journal of Cancer, EarlyView.
What's New? Existing biomarkers for ovarian cancer (OC) lack the sensitivity and specificity needed to consistently distinguish the malignancy from non‐ovarian influences and other cancers. Here, the authors explored the ability of the prion‐like protein Doppel, normally found in the male testes, to detect OC.
Zulfikar Azam, Xiaojun Zhang, Riajul Wahab, Md Mahedi Hasan, Shivaniben Dhadhal, Bowon Kang, Md Mynul Hassan, Mazharul Karim, Jeong Uk Choi, Muhit Rana, Jian‐Ying Zhang, Sourav Roy, Youngro Byun, In‐San Kim, Jae Yun Song, Eugene P. Toy, Sireesha Y. Reddy, Farzana Alam, Taslim A. Al‐Hilal   +18 more
wiley   +1 more source

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou, Yu Wu, Guoran Li, Yongwen Qin, Man Qi, Zhitao Jin   +5 more
wiley   +1 more source

Fibroids and pregnancy

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract The prevalence of uterine fibroids in pregnancy varies between 1.6% and 10.7%. Pregnancies involving uterine fibroids are generally uncomplicated. However, complications can occur, particularly in cases of multiple fibroids, when the fibroids are larger than 5 cm, or when they are located in the lower uterine segment.
Diana Ramasauskaite, Nikhil Purandare, Ivonne Diaz, Greta Kvederaite‐Budre, Titus K. Beyuo, Jolly Beyeza‐Kashesya, Bo Jacobsson   +6 more
wiley   +1 more source

The impact of mother's mental health, infant characteristics and war trauma on the acoustic features of infant‐directed singing

Infant Mental Health Journal: Infancy and Early Childhood, EarlyView.
Abstract Infant‐directed singing (IDSi) is a natural means of dyadic communication that contributes to children's mental health by enhancing emotion expression, close relationships, exploration and learning. Therefore, it is important to learn about factors that impact the IDSi.
Raija‐Leena Punamäki, Safwat Y. Diab, Konstantinos Drosos, Samir R. Quota   +3 more
wiley   +1 more source