Results 51 to 60 of about 34,220 (292)

Magnetic resonance imaging in prenatal diagnosis of tuberous sclerosis complex: a case report

Digital Diagnostics
Early detection of orphan diseases, including tuberous sclerosis complex, requires a multidisciplinary approach and the integration of new prenatal diagnostic methods, utilizing ultrasound and magnetic resonance imaging.
Tatiana V. Ivlyukova, Daria D. Bugrova, Alexander A. Melnikov, Larisa D. Belotserkovtseva, Natalia V. Klimova   +4 more
doaj   +1 more source

Auditory Sensitivity in Autism: A Systematic Review of Mismatch Negativity and Mismatch Field Responses

Autism Research, EarlyView.
ABSTRACT Auditory mismatch responses—mismatch negativity (MMN) and mismatch fields (MMF)—are well established electrophysiological markers of automatic auditory discrimination supported by short‐term sensory memory. These responses, typically elicited using passive oddball paradigms, are increasingly used to investigate sensory and language processing ...
Sara Cacciato‐Salcedo, Shreya Jaokar, Neil J. Ingham, Manuel S. Malmierca, Marija M. Petrinovic   +4 more
wiley   +1 more source

A child with tuberous sclerosis having Novel NRAS gene mutation

Journal of Family Medicine and Primary Care
Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs,
P. N. Liveinai, Neeraj Kumar, Jyoti Kadian, Dinkar Yadav, Kapil Bhalla   +4 more
doaj   +1 more source

Multiple Cardiac Rhabdomyomas, Wolff-Parkinson-White Syndrome, and Tuberous Sclerosis: An Infrequent Combination

Case Reports in Pediatrics, 2014
Cardiac rhabdomyomas are benign cardiac tumours and are often associated with tuberous sclerosis. They are often asymptomatic with spontaneus regresion but can cause heart failure, arrhythmias, and obstruction. There have also been a few isolated reports
Elena Castilla Cabanes, Isaac Lacambra Blasco   +1 more
doaj   +1 more source

Autism and tuberous sclerosis [PDF]

Journal of Autism and Developmental Disorders, 1992
Autism is a behavior disorder with genetic influences indicated from twin and family studies and from the co-occurrence of autism with known genetic disorders. Tuberous sclerosis complex (TSC) is a known genetic disorder with behavioral manifestations including autism.
Smalley, Susan L, Tanguay, Peter E, Smith, Moyra, Gutierrez, Griselda   +3 more
openaire   +4 more sources

Cannabidiol in Anorexia Nervosa: A Double‐Blind Randomized Placebo Controlled Pilot Study to Test Safety, Pharmacokinetics, and Symptom Change

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Anorexia nervosa (AN) is a severe psychiatric disorder marked by an intense fear of gaining weight and persistent body dissatisfaction, both during periods of underweight and after weight restoration. The endocannabinoid system may offer therapeutic benefits, particularly in reducing anxiety.
Neha Sahota, David J. Grelotti, Tyler Nguyen, Walter H. Kaye, Skylar Swindle, Raymond Suhandynata, Spencer Seely, Megan E. Shott, Guido K. W. Frank   +8 more
wiley   +1 more source

Tuberous Sclerosis

, 1988
A report of a joint meeting of the Forum on Mental Retardation of the Royal Society of Medicine and The Tuberous Sclerosis Association of Great Britain states that the prevalence of tuberous sclerosis (TS) for children under 15 years may be 1 in 10 ...
J Gordon Millichap
core   +1 more source

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source

Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy

Neuropsychiatric Disease and Treatment, 2016
Jamie K Capal, David Neal Franz Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Tuberous sclerosis complex (TSC) is a relatively rare genetic disorder, affecting one in 6,000 births ...
Capal J, Franz DN
doaj  

Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

Asian Journal of Medical Sciences, 2015
Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.
Prasad Mylarappa
doaj   +1 more source