Results 41 to 50 of about 28,093 (237)
A child with tuberous sclerosis having Novel NRAS gene mutation
Journal of Family Medicine and Primary CareTuberous 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 +4 more
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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 +1 more
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Epileptic Disorders, EarlyView.Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca +10 more
wiley +1 more source
Localizing value of cutaneous ictal phenomena: A systematic review
Epileptic Disorders, EarlyView.Abstract Objective Clinical observation of autonomic signs during seizures can aid in localizing the epileptogenic zone (EZ). We performed a systematic review and meta‐analysis to evaluate the localizing value of ictal cutaneous phenomena—piloerection, sweating, pallor, and flushing—in focal epilepsy and their relevance to presurgical evaluation ...
R. Rocamora +7 more
wiley +1 more source
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
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
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Epileptic Disorders, EarlyView.Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio +9 more
wiley +1 more source
Genetic testing among patients evaluated for epilepsy surgery
Epileptic Disorders, EarlyView.Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela +7 more
wiley +1 more source
Cardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia [PDF]
Journal of Cardio-Thoracic Medicine, 2015 Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex.
Anand Agarwal
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Anaesthesia and tuberous sclerosis
British Journal of Anaesthesia, 1994 The anaesthetic management of a patient with tuberous sclerosis undergoing two-stage scoliosis surgery is described. The patient suffered from severe mental retardation, seizures and facial angiofibromas. General anaesthesia using isoflurane and nitrous oxide in oxygen, supplemented with opioid analgesia and hydralazine, and labetalol to induce ...
J J, Lee, M, Imrie, V, Taylor
openaire +2 more sources