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tuberous sclerosis guidelines

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https://www.readbyqxmd.com/read/27809914/efficacy-and-safety-of-everolimus-in-children-with-tsc-associated-epilepsy-pilot-data-from-an-open-single-center-prospective-study
#1
Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone, Martha Feucht
BACKGROUND: Epilepsy occurs in up to 90 % of all individuals with tuberous sclerosis complex (TSC). In 67 % disease onset is during childhood. In ≥ 50 % seizures are refractory to currently available treatment options. The mTOR-Inhibitor Everolimus (Votubia®) was approved for the treatment of subependymal giant cell astrocytoma (SEGA) and renal angiomyolipoma (AML) in Europe in 2011. It's anticonvulsive/antiepileptic properties are promising, but evidence is still limited. Study aim was to evaluate the efficacy and safety of Everolimus in children and adolescents with TSC-associated epilepsies...
November 3, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27504842/review-of-the-tuberous-sclerosis-renal-guidelines-from-the-2012-consensus-conference-current-data-and-future-study
#2
J Chris Kingswood, John J Bissler, Klemens Budde, John Hulbert, Lisa Guay-Woodford, Julian R Sampson, Matthias Sauter, Jane Cox, Uday Patel, Frances Elmslie, Chris Anderson, Bernard A Zonnenberg
Renal-related disease is the most common cause of tuberous sclerosis complex (TSC)-related death in adults, and renal angiomyolipomas can lead to complications that include chronic kidney disease (CKD) and hemorrhage. International TSC guidelines recommend mammalian target of rapamycin (mTOR) inhibitors as first-line therapy for management of asymptomatic, growing angiomyolipomas >3 cm in diameter. This review discusses data regarding patient outcomes that were used to develop current guidelines for embolization of renal angiomyolipomas and presents recent data on 2 available mTOR inhibitors - sirolimus and everolimus - in the treatment of angiomyolipoma...
2016: Nephron
https://www.readbyqxmd.com/read/27310569/the-economic-burden-of-tuberous-sclerosis-complex-in-uk-patients-with-renal-manifestations-a-retrospective-cohort-study-in-the-clinical-practice-research-datalink-cprd
#3
John C Kingswood, Paola Nasuti, Keyur Patel, Melissa Myland, Vathani Siva, Elizabeth Gray
BACKGROUND: Tuberous sclerosis complex (TSC) is a multi-system genetic disorder in which renal manifestations occur in ∼50% of children and 80% of adults. Since these often present alongside other manifestations, renal TSC is likely to incur significant costs. This study aims to quantify healthcare resource use (HCRU) and costs for renal TSC patients in the UK. METHODS: TSC patients in the Clinical Practice Research Datalink (CPRD) linked to Hospital Episodes Statistics were identified from January 1987-June 2013...
June 25, 2016: Journal of Medical Economics
https://www.readbyqxmd.com/read/27079594/optical-coherence-tomography-to-monitor-vigabatrin-toxicity-in-children
#4
Catherine Origlieri, Brooke Geddie, Bethany Karwoski, Madison M Berl, Nancy Elling, William McClintock, Janet Alexander, Marlet Bazemore, Heather de Beaufort, Kelly Hutcheson, Marijean Miller, Jonathan Taylormoore, Mohamad S Jaafar, William Madigan
PURPOSE: The antiepileptic drug vigabatrin is known to cause permanent loss of vision. Both visual field testing and electroretinogram are used to detect retinal damage. Adult data on optical coherence tomography (OCT) shows that retinal nerve fiber layer (RNFL) thinning may be an early indicator of vigabatrin-induced retinal toxicity. The purpose of this study was to investigate whether OCT can detect early vigabatrin-induced retinal toxicity in children. METHODS: Pediatric patients (≤18 years of age) requiring vigabatrin for seizure control who were followed at our institution were invited to participate...
April 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/26910805/treatment-of-infantile-spasms-report-of-the-interdisciplinary-guideline-committee-coordinated-by-the-german-speaking-society-for-neuropediatrics
#5
Daniel Tibussek, Jörg Klepper, Rudolf Korinthenberg, Gerhard Kurlemann, Dietz Rating, Gabriele Wohlrab, Markus Wolff, Bernhard Schmitt
Objectives This report aims to define treatment goals, to summarize the evidence level (EL) of different treatment options for infantile spasms (IS), both in terms of efficacy and adverse effect, and to give recommendations for the management of IS. Methods The Cochrane and Medline (1966-July 2014) databases were searched. Literature known to the guideline working group and identified through citations was also considered. The results of previously published guidelines were taken into account in our analysis...
June 2016: Neuropediatrics
https://www.readbyqxmd.com/read/26759276/meta-analysis-of-stomatitis-in-clinical-studies-of-everolimus-incidence-and-relationship-with-efficacy
#6
H S Rugo, G N Hortobagyi, J Yao, M Pavel, A Ravaud, D Franz, F Ringeisen, J Gallo, N Rouyrre, O Anak, R Motzer
BACKGROUND: Everolimus, an oral mammalian target of rapamycin (mTOR) inhibitor, is used to treat solid tumors and tuberous sclerosis complex (TSC). Stomatitis, an inflammation of the mucous membranes of the mouth, is a common adverse event associated with mTOR inhibitors, including everolimus. We conducted a meta-analysis of data from seven randomized, double-blind phase 3 clinical trials of everolimus to determine the clinical impact of stomatitis on efficacy and safety. PATIENTS AND METHODS: Data were pooled from the safety sets of solid tumor [breast cancer (BOLERO-2 and BOLERO-3), renal cell carcinoma (RECORD-1), carcinoid tumors (RADIANT-2), and pancreatic neuroendocrine tumors (RADIANT-3)] and TSC studies (EXIST-1 and EXIST-2)...
March 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/26067126/neurological-and-neuropsychiatric-aspects-of-tuberous-sclerosis-complex
#7
REVIEW
Paolo Curatolo, Romina Moavero, Petrus J de Vries
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 genes lead to disruption of the TSC1-TSC2 intracellular protein complex, causing overactivation of the mammalian target of rapamycin (mTOR) protein complex. The surveillance and management guidelines and clinical criteria for tuberous sclerosis were revised in 2012, and mTOR inhibitors are now recommended as treatment options for subependymal giant cell astrocytomas and renal angiomyolipomas-two common features of the disease...
July 2015: Lancet Neurology
https://www.readbyqxmd.com/read/26022167/tuberous-sclerosis-complex
#8
REVIEW
Francis J DiMario, Mustafa Sahin, Darius Ebrahimi-Fakhari
Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia. The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13. The clinical phenotypes resulting from mutations in either of the 2 genes are variable in each individual. Herein, advances in the understanding of molecular mechanisms in tuberous sclerosis complex are reviewed, and current guidelines for diagnosis, treatment, follow-up, and management are summarized...
June 2015: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/25860851/tuberous-sclerosis-complex-new-criteria-for-diagnostic-work-up-and-management
#9
REVIEW
Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Groeppel, Constanze Jonak, Angelika Muehlebner, Daniela Prayer, Andreas Reitner, Martha Feucht
Tuberous sclerosis complex (TSC) is a rare genetic multisystem disorder, characterized by predominantly benign tumors in potentially all organ systems. System involvement, severity of clinical symptoms and the response to treatment are age-dependent and heterogeneous. Consequently, the disorder is still not recognized in a considerable number of patients. The diagnostic criteria and the guidelines for surveillance and management of patients with TSC were revised, and the establishment of specialized TSC-centers was strongly recommended during an International Consensus Conference in 2012...
August 2015: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/25776100/tuberous-sclerosis-complex-an-update-for-dermatologists
#10
REVIEW
Stephanie K Jacks, Patricia M Witman
Tuberous sclerosis complex is an autosomal dominant disorder that often manifests early in life with cutaneous features, and it is important that dermatologists who care for children remain up to date on its diagnosis and management. This article provides an update regarding the most recent guidelines for diagnosis published by the International Tuberous Sclerosis Complex Consensus Conference, which took place in 2012, and provides a brief literature review of the most recent developments in the treatment of skin findings...
September 2015: Pediatric Dermatology
https://www.readbyqxmd.com/read/25682573/treatment-of-pediatric-epilepsy-in-poland
#11
Dorota Dunin-Wąsowicz, Maria Mazurkiewicz-Bełdzińska, Barbara Steinborn, James Wheless, Sergiusz Jóźwiak
BACKGROUND: The many types of childhood epilepsies make the diagnosis and treatment difficult and the outcomes frequently poor. Furthermore, there are few clinical trials in pediatric epilepsy that provide useful results to guide daily practice. Therefore for pediatric neurologists expert opinion may be useful. AIMS: To provide an overview of current practice in Poland and compare results with European and US clinical guidelines. METHODS: Polish specialists in pediatric neurology were asked to participate in a survey about pediatric epilepsy...
May 2015: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/25602245/advances-in-the-treatment-of-tuberous-sclerosis-complex
#12
REVIEW
Loren Leclezio, Petrus J de Vries
PURPOSE OF REVIEW: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder with physical and neuropsychiatric manifestations and significant research progress has been made in recent years. Here, we focus on the key advances over the last 18 months. RECENT FINDINGS: Three main themes were identified in the literature. Firstly, the diagnostic criteria and surveillance guidelines for TSC were revised, incorporating a genetic criterion alongside clinical criteria, and making a positive step towards evidence-based treatment of TSC...
March 2015: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/25511520/clinical-considerations-in-transitioning-patients-with-epilepsy-from-clonazepam-to-clobazam-a-case-series
#13
Raman Sankar, Steve Chung, Michael Scott Perry, Ruben Kuzniecky, Saurabh Sinha
INTRODUCTION: In treating refractory epilepsy, many clinicians are interested in methods used to transition patients receiving clonazepam to clobazam to maintain or increase seizure control, improve tolerability of patients' overall drug therapy regimens, and to enhance quality of life for patients and their families. However, no published guidelines assist clinicians in successfully accomplishing this change safely. CASE PRESENTATIONS: The following three case reports provide insight into the transition from clonazepam to clobazam...
2014: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/25472033/oral-findings-in-a-family-with-tuberous-sclerosis-complex
#14
Michelle Mikhael Ammari, Ivete Pomarico Ribeiro de Souza, Lucianne Cople Maia, Laura Guimarães Primo
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a multisystemic character that may present alterations in multiple organ systems, including oral manifestations. This case report describes a family (mother and two sons) with TSC that underwent a multidisciplinary approach, emphasizing their oral manifestations and highlights the adequate approach taken. The children presented many and distinct features of TSC in different systems; however the family revealed similar oral manifestations...
December 4, 2014: Special Care in Dentistry
https://www.readbyqxmd.com/read/25277108/natural-history-of-angiomyolipoma-in-lymphangioleiomyomatosis-implications-for-screening-and-surveillance
#15
Zhao W Yeoh, Vidya Navaratnam, Rupesh Bhatt, Ian McCafferty, Richard B Hubbard, Simon R Johnson
BACKGROUND: LAM is a rare disease of women categorised by lung cysts and lymphatic abnormalities. The disease occurs sporadically or associated with Tuberous Sclerosis Complex (TSC-LAM). Angiomyolipoma, a benign tumour, prone to haemorrhage, occurs mostly in the kidneys in many of these patients. Treatment guidelines exist for angiomyolipoma in patients with TSC but the natural history of angiomyolipoma in sporadic LAM has not been studied. AIMS: To document the natural history of angiomyolipoma in a national cohort of patients with sporadic LAM to inform tumour screening and surveillance protocols...
2014: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/24781229/-recommendations-for-diagnosis-and-treatment-of-tuberous-sclerosis
#16
M Iu Dorofeeva, E D Belousova, A M Pivovarova
No abstract text is available yet for this article.
2014: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/24771286/recommendations-for-the-radiological-diagnosis-and-follow-up-of-neuropathological-abnormalities-associated-with-tuberous-sclerosis-complex
#17
Àlex Rovira, María Luz Ruiz-Falcó, Elena García-Esparza, Eduardo López-Laso, Alfons Macaya, Ignacio Málaga, Elida Vázquez, Josefina Vicente
Tuberous sclerosis complex (TSC) is a genetic condition with multisystem involvement, characterized by the development of tumors and other abnormalities in organs such as the brain, retina, skin, heart, kidneys, and lungs. Most patients have neuropathological abnormalities such as cortical tubers, white matter radial migration lines, subependymal nodules, and subependymal giant cell astrocytomas (SEGAs). These lesions are associated with different neurological manifestations that are frequently associated with TSC...
June 2014: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/24518266/managing-tuberous-sclerosis-in-the-asia-pacific-region-refining-practice-and-the-role-of-targeted-therapy
#18
John A Lawson, Chi-Fung Chan, Ching-Shiang Chi, Pi-Chuan Fan, Heung Dong Kim, Ki Joong Kim, Surachai Likasitwatanakul, Marilyn Ortiz, Kate Riney, Stacey Kiat-Hong Tay, Chee-Kian Tham
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder, with heterogeneous manifestations that pose major diagnostic and management challenges and incur considerable chronic disease burden on patients, their caregivers and healthcare systems. This survey of clinical practice in the Asia-Pacific region highlights priorities for improving TSC management in the region. The prevalence of TSC in non-Caucasians is uncertain and more data are needed to assess its impact and health-economic burden. There are unmet needs for access to genetic testing and earlier diagnosis and intervention...
July 2014: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/24382900/newer-anti-epileptic-drugs
#19
REVIEW
Satinder Aneja, Suvasini Sharma
NEED AND PURPOSE OF REVIEW: A number of newer anti-epileptic drugs have been developed in the last few years to improve the treatment outcomes in epilepsy. In this review, we discuss the use of newer anti-epileptic drugs in children. METHODS USED FOR LOCATING, SELECTING, EXTRACTING AND SYNTHESIZING DATA: MEDLINE search (1966-2013) was performed using terms newer anti-epileptic drugs, Oxcarbazepine, vigabatrin, topiramate, zonisamide, levetiracetam, lacosamide, rufinamide, stiripentol, retigabine, eslicarbazepine, brivaracetam, ganaxolone and perampanel for reports on use in children...
November 8, 2013: Indian Pediatrics
https://www.readbyqxmd.com/read/24325283/active-surveillance-for-renal-angiomyolipoma-outcomes-and-factors-predictive-of-delayed-intervention
#20
Idir Ouzaid, Riccardo Autorino, Richard Fatica, Brian R Herts, Gordon McLennan, Erick M Remer, Georges-Pascal Haber
OBJECTIVE: To present the outcomes of active surveillance (AS) for renal angiomyolipomas (AMLs) and to assess the clinical features predicting delayed intervention of this treatment option. PATIENTS AND METHODS: We retrospectively reviewed the outcomes of patients diagnosed with AMLs on computed tomography (CT) who were managed with AS at our institution. The AS protocol consisted of 6- and 12-month, then annual follow-up visits, each one including a physical examination and CT imaging...
September 2014: BJU International
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