Results 171 to 180 of about 236,655 (258)

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia 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

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia 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   +3 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

open access: yesEpilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz   +2 more
wiley   +1 more source

Evaluation of the Vibrant DNA microarray for the high-throughput multiplex detection of enteric pathogens in clinical samples. [PDF]

open access: yesGut Pathog, 2019
Yang Y   +8 more
europepmc   +1 more source

De‐Escalation of Neoadjuvant Treatment for HER2‐Positive Breast Cancer

open access: yesInternational Journal of Cancer, EarlyView.
ABSTRACT With improved prognosis in early HER2‐positive breast cancer, safely de‐escalating treatment is increasingly investigated to minimize overtreatment. This article focuses on neoadjuvant de‐escalation strategies for HER2‐positive breast cancer.
Yiyin Ma, Dedian Chen, Sheng Huang
wiley   +1 more source

Prediction of lymphovascular space invasion in endometrial cancer using the 55-gene signature selected by DNA microarray analysis. [PDF]

open access: yesPLoS One, 2019
Watanabe T   +7 more
europepmc   +1 more source

Clinical Relevance of BACH1 Expression in Non–Small Cell Lung Cancer

open access: yesInternational Journal of Cancer, EarlyView.
ABSTRACT BTB and CNC homolog 1 (BACH1) is a redox‐sensitive transcription factor implicated in tumor progression, metabolic reprogramming, and therapy resistance in several cancers. However, its prognostic significance and role in therapy resistance in non–small cell lung cancer (NSCLC) remain unclear.
Jing Liu   +7 more
wiley   +1 more source

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

open access: yesInternational Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras   +1 more
wiley   +1 more source

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