Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha +27 more
wiley +1 more source
Fatty images of the heart: spectrum of normal and pathological findings at computed tomography and cardiac magnetic resonance imaging. [PDF]
Ectopic cardiac fatty images are not rarely detected incidentally at computed tomography and cardiac magnetic resonance, either in exams focused on the heart as in general thoracic imaging evaluations.
Cannavale, Giuseppe +6 more
core +3 more sources
Abstract Objective Magnetic resonance‐guided laser interstitial thermal therapy (MRgLITT) is a minimally invasive technique that allows for real‐time magnetic resonance imaging (MRI) monitoring and precise ablation of epileptogenic lesions. This study reports our initial clinical experience with a domestically developed MRgLITT system in patients with ...
Sichang Chen +6 more
wiley +1 more source
Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report
BackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo +5 more
doaj +1 more source
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex [PDF]
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues.
AC Jones +37 more
core +7 more sources
Research progress on the role of inflammatory mediators in the pathogenesis of epilepsy
In the central nervous system, activated immune cells lead to the overproduction of inflammatory mediators through the corresponding signal pathway. Under the stimulation of inflammatory factors, neuroinflammation ultimately occurs. Overexpression of inflammatory mediators and activated immunocytes plays an important role in the emergence and ...
Yue Yu, Fei‐Ji Sun
wiley +1 more source
Challenges in the management of a case of tuberous sclerosis
Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina.
Anubhav Rathi +2 more
doaj +1 more source
Unusual Large Sporadic Angiomyolipoma Co-existing with Huge Simple Renal Cyst [PDF]
Renal Angiomyolipoma (AML) is an unusual benign mesenchymal tumor with no malignant potential. It is composed of adipose tissue, smooth muscle and abnormal thick walled blood vessels. It can occur sporadically or may be associated with tuberous sclerosis.
Chavan, SH +5 more
core
Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: A Spanish expanded access trial [PDF]
Background: Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/embolization.
Anido, Urbano +13 more
core +4 more sources
Abstract Background Vaccination has been proposed as a potential risk factor for autism spectrum disorder (ASD), contributing to public hesitancy and mistrust toward immunization. Influenza vaccination during pregnancy is considered safe and effective in preventing serious maternal complications and adverse birth outcomes associated with influenza ...
Shahar Neeman +4 more
wiley +1 more source

