Results 121 to 130 of about 243,798 (221)
Genetics of tuberous sclerosis complex: implications for clinical practice
, 2016 Carolina Caban,1,2 Nubaira Khan,1,2 Daphne M Hasbani,3 Peter B Crino1,2 1Department of Neurology, 2Shriners Hospitals Pediatric Research Center, Temple University School of Medicine, 3Department of Neurology, St. Christopher’s Hospital for ...
Hasbani DM, Crino PB, Khan N, Caban C
core
Rhinophyma in tuberous sclerosis complex: case report with brief review of literature
, 2014 Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by the triad epilepsy, hamartomas (angiofibroma) and reduced intellectual capacity. Phenotype can vary considerably.
Friedrich, Reinhard E. +3 more
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Epilepsia Open, EarlyView.Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher +11 more
wiley +1 more source
Equine Veterinary Journal, EarlyView.Abstract Background Proximal interphalangeal joint osteoarthritis (PIPJ OA) is a common cause of poor performance in the equine athlete; however, the supporting soft tissue structures surrounding the joint are seldom evaluated. Straight sesamoidean ligament injuries have been previously hypothesised to be concomitant with PIPJ OA; however, the ...
Charlotte K. Barton +3 more
wiley +1 more source
Research progress on the role of inflammatory mediators in the pathogenesis of epilepsy
Ibrain, Volume 11, Issue 1, Page 44-58, Spring 2025.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
Tuberous Sclerosis Complex Renal Disease
, 2010 Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement.
Bradley P. Dixon +2 more
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JCPP Advances, EarlyView.Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes +3 more
wiley +1 more source
Cerebellar involvement in tuberous sclerosis
, 1998 Cerebellar involvement in tuberous sclerosis is apparently less than cerebral involvement. In this article, we report CT and MR imaging findings in four tuberous sclerosis patients with apparent cerebellar changes.
Sener, RN
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Nail Disorders in Systemic Conditions
JEADV Clinical Practice, EarlyView.ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley +1 more source
Nail Toxicities Associated With Anticancer Therapies in Children
JEADV Clinical Practice, EarlyView.ABSTRACT Nail toxicities are a frequent yet often underrecognized component of dermatologic adverse events in children receiving anticancer therapies. Both conventional cytotoxic chemotherapy and newer targeted agents can affect the nail matrix, nail bed and periungual tissues, producing a broad spectrum of clinical manifestations that range from ...
Luca Rapparini, Michela Starace
wiley +1 more source