Results 171 to 180 of about 36,602 (286)

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

IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies. [PDF]

Adv Neurobiol, 2020
Germain ND, Levine ES, Chamberlain SJ.
europepmc   +1 more source

Real‐world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2‐q13.1 duplication and deletion syndromes: A multicenter study

Epilepsia Open, EarlyView.
Abstract This multicenter retrospective study evaluated the effectiveness and safety of highly purified cannabidiol (CBD) in 22 patients with 15q11.2‐q13.1 duplication or deletion syndromes (15q‐DDS), including 12 with 15q duplication syndrome (dup15q) and 10 with Angelman syndrome (AS). Median (interquartile range [IQR]) age at CBD initiation was 14.5
Emanuele Cerulli Irelli, Adolfo Mazzeo, Marco Perulli, Georgia Ramantani, Domenica Battaglia, Irene Bagnasco, Erica Cognolato, Pasquale Striano, Susanna Negrin, Alberto Danieli, Paolo Bonanni, Francesca F. Operto, Carlo Di Bonaventura, Antonietta Coppola, Alessandro Orsini   +14 more
wiley   +1 more source

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.

J Clin Endocrinol Metab, 2021
Fuke T, Nakamura A, Inoue T, Kawashima S, Hara KI, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M.   +10 more
europepmc   +1 more source

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years. [PDF]

Clin Epigenetics, 2020
Hara-Isono K, Matsubara K, Mikami M, Arima T, Ogata T, Fukami M, Kagami M.   +6 more
europepmc   +1 more source

Implantable electrochemical sensors for continuous blood monitoring

FlexMat, EarlyView.
Implantable electrochemical sensors enable direct, in situ, and continuous blood monitoring, shifting diagnosis from population‐based averages to dynamic, individualized analysis. This review systematically examines the influence of the unique blood properties on sensor design.
Kuangyi Zou, Yuanzhen Wang, Haidong Wang, Ye Zhang   +3 more
wiley   +1 more source

Luteal phase stimulation versus follicular phase stimulation in poor ovarian responders: A systematic review and a meta‐analysis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Background Poor ovarian response (POR) complicates a substantial proportion of in vitro fertilization (IVF) cycles, frequently causing cycle cancellation and suboptimal reproductive outcomes. Conventional follicular‐phase ovarian stimulation (FPOS) protocols often yield limited results, prompting the evaluation of alternative strategies such ...
Vittorio Agrifoglio, Antonio D'Amato, Mariano Catello Di Donna, Marika Marino, Antonio Simone Laganà, Renato Venezia, Davide Vinci, Gaetano Riemma, Andrea Etrusco   +8 more
wiley   +1 more source

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients. [PDF]

BMC Pediatr
Mohamed AM, Eid O, Farid M, Ashaat E, Abdel-Salam GMH, El-Bassyouni HT, Essa M, Mahrous R, Erian PSF, Refaat KM, Fayez A, Zaki M.   +11 more
europepmc   +1 more source

Antibiotic Remodeling of the Gut Microbiota Impairs Host Resistance to Secondary Infection

iMetaMed, EarlyView.
Gut microbial dynamics induced by four antibiotics, revealed distinct taxonomic and functional shifts. Vancomycin‐perturbed bacteriomes were proven to promote pathogen resistance to antibiotic treatment. Metronidazole‐treated mice showed pronounced Salmonella translocation to hepatic tissue, and altered Enterococcus avium populations modulated host ...
Miaoyu Li, Ying Chen, Xi Chen, Weili Lu, Jie Liao, Jiaqi Wang, Qiwei Liu, Yanzi Chang, Zeping Xu, Yanye Tu, Yang Zhou, Jing Xue, Binbin Wang, Kang Chen, Keyun Cheng, Chunlai Zeng, Hong Li, Qing Shen   +17 more
wiley   +1 more source

Imprinting Disorders and Epigenetic Alterations in Children Conceived by Assisted Reproductive Technologies: Mechanisms, Clinical Outcomes, and Prenatal Diagnosis. [PDF]

Genes (Basel)
Gambadauro A, Chirico V, Galletta F, Gulino F, Chimenz R, Serraino G, Rulli I, Manganaro A, Gitto E, Marseglia L.   +9 more
europepmc   +1 more source