Results 51 to 60 of about 17,949 (246)

Neonatal seizures: Advances in diagnosis and management

Epilepsia 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, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Unveiling sleep disturbances in KCNB1‐related disorders: Insights from a cohort of 78 individuals

Epilepsia Open, EarlyView.
Abstract Objectives Sleep disturbances are frequent comorbidities in epilepsies and developmental encephalopathies. This study aimed to characterize sleep abnormalities in individuals with KCNB1‐related disorders, focusing on their prevalence, clinical manifestations, and impact on daily functioning.
Giovanna Scorrano, Delphine Breuillard, Anais Thimon, Nicole Chemaly, Rima Nabbout   +4 more
wiley   +1 more source

Catarata Congénita.: Presentación de caso. Congenital cataract.: Presentation of a case

Revista Médica Electrónica, 2009
Conociendo que la Catarata Congénita es una enfermedad que puede tener herencia autosómica dominante, autosómica recesiva, ligada al X y multifactorial, en la cual el diagnóstico precoz influye decisivamente en el pronóstico y la calidad de vida del ...
Milaydi Moreira González, Hilda Álvarez de la Campa Gil., Dairys Laura Falcón Rodríguez., Claribel Lugo Rodríguez.   +3 more
doaj  

Ceramide signalling in inherited and multifactorial brain metabolic diseases

Neurobiology of Disease, 2020
In recent years, research on sphingolipids, particularly ceramides, has attracted increased attention, revealing the important roles and many functions of these molecules in several human neurological disorders. The nervous system is enriched with important classes of sphingolipids, e.g., ceramide and its derivatives, which compose the major portion of
Devesh C. Pant, Sergio Aguilera-Albesa, Aurora Pujol   +2 more
openaire   +3 more sources

The importance of gene polymorphism in familial inheritance of endometriosis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective The study aimed to investigate familial transmission patterns in women with endometriosis by generating a customized single‐nucleotide polymorphism (SNP) array. Methods Patients aged 18–45 who were diagnosed histopathologically with endometriosis were included in the study.
Hale Goksever Celik, Candan Eker, Berivan Guzelbag, Ercan Bastu, Tuba Gunel   +4 more
wiley   +1 more source

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

A Comprehensive Study of Bidirectional Interactions Between the Human Microbiome and Blood Malignancies and Hematologic Conditions: Focus on Novel Therapeutic Strategies

Journal of Clinical Laboratory Analysis, EarlyView.
Microbiota‐targeted therapeutic strategies in hematological disorders. aHSCT: Transplanted immune cells from the donor may attack the recipient's tissues, especially when damage to the intestinal epithelium disrupts the gut microbiota, contributing to GVHD. Maintaining a balanced gut microbiota that supports immune regulation helps reduce GVHD risk and
Alireza Molajafari, Hadi Sedigh Ebrahim‐Saraie, Majid Taati Moghadam, Meysam Hasannejad‐Bibalan   +3 more
wiley   +1 more source

High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?

Advanced Biomedical Research, 2012
Background: Despite elimination of iodine deficiency, the rates of both permanent and transient congenital hypothyroidism (CH) in our study were higher than the comparable worldwide rates, which emphasize the major role of genetic factors in the ...
Mahin Hashemipour, Silva Hovsepian, Roya Kelishadi   +2 more
doaj   +1 more source

High‐ and Ultra‐High‐Frequency Ultrasound Identifies a Subclinical Link Between Suppurative Comedonal Nevus and Hidradenitis Suppurativa

Journal of Ultrasound in Medicine, EarlyView.
Suppurative nevus comedonicus (SNC) is a variant of nevus comedonicus in which the characteristic features coexist with recurrent inflammatory lesions that clinically resemble those of hidradenitis suppurativa (HS). We present the ultrasound characteristics of this entity and emphasize the value of high‐resolution dermatologic ultrasound both as a ...
Marta Ivars, Katia Henostroza, Fabià Torres‐Betato, Eva Vilarrasa, Ximena Wortsman   +4 more
wiley   +1 more source

Mapping Causal Biology: Mendelian Randomization in the Era of Big Data

Med Research, EarlyView.
Mendelian randomization (MR) leverages genetic variants to mitigate confounding biases in causal inference. This review systematically maps MR's methodological evolution, highlights its expanding applications in epidemiology and drug target validation, and outlines future directions for overcoming current biases through dynamic, multi‐omics, and cross ...
Xuanlu Shen, Chunrun Qu, Zeyu Wang, Jinglin Zhou, Hongwei Liu, Yingjie Li, Bowei Liu, Hao Zhang, Nan Zhang, Jingwei Zhang, Quan Cheng   +10 more
wiley   +1 more source