Asociación Nacional de Esclerosis Tuberosa

Asociación Nacional de la Esclerosis Tuberosa
• La Asociación Nacional de Esclerosis Tuberosa nace para fomentar la investigación y el desarrollo de estudios clínicos de esta patología. Además pretende, ayudar, orientar e informar tanto a los pacientes como a sus familiares.

Servicios de Atención
• La Asociación se preocupa por los pacientes y familiares, y por ello dispone de un Servicio de Información y Orientación (SIO). Se trata de un servicio gratuito que tiene como función formar e informar sobre el conocimiento de la Esclerosis Tuberosa, su sintomatología y sus posibles tratamientos. Leer más.

Objetivos de la Asociación
• Una de nuestras principales prioridades es la Investigación de la patología, para la búsqueda de un posible tratamiento. La asociación pretende la igualdad de derechos de las personas que la padecen, su integración social, educativa y la mejora de su calidad de vida dentro de la patología. Leer más.

Preguntas
• Si tiene dudas sobre el complejo de la Esclerosis tuberosa, puede leer nuestra sección de Preguntas o bien puede contactar con nosotros y concertaremos una visita para resolver todas sus dudas.

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Bienvenidos a la Asociación nacional de Esclerosis Tuberosa

El principal objetivo de la Asociación es la investigación de la patología para encontrar un posible tratamiento y fomentar los estudios clínicos. Además, pretende la igualdad de los derechos de las personas que la padecen, su integración social, educativa y la mejoría de su calidad de vida.
También sensibilizar a las empresas tanto públicas como privadas, dar información a las familias y afectados, dar a conocer la patología, entre otros.

Investigación

Desde el año 2000 que se fundó la Asociación, una de sus principales prioridades es la Investigación de la patología, para la búsqueda de un posible tratamiento.

Genética

En el año 2006 la Asociación Esclerosis Tuberosa, junto con el “Banco de tejidos” en la actualidad denominado “Laboratorio de Investigación Molecular de La Fundación Sociosanitaria de Castilla la Mancha”, se desarrolla la Secuenciación completa de los dos genes TSC1 y TSC2 y complementariamente la MLPA. De esta forma el paciente tiene la oportunidad de conocer cuál es su mutación, para posibles tratamientos futuros, al igual que cualquier familiar también puede realizarse esta prueba. Con los resultados los pacientes tienen la oportunidad de hacer las pruebas prenatales (biopsia Corial) al igual que sus familiares.

Estudio clínico con everolimus

En Enero de 2011 comenzó un Estudio clínico con everolimus para pacientes afectados de Esclerosis Tuberosa con angiomiolipomas renales en la clínica Puigvert de Barcelona, con dos años de duración, a través de la farmacéutica Novartis.

En Octubre de 2011 comenzó un Estudio Clínico con Everolimus en SEGA (astrocitoma) asociado a TSC con pacientes mayores de 3 años diagnosticados clínicamente con al menos un SEGA. Adjunto te envío el criterio de exclusión. Se está realizando en 5 hospitales de ámbito nacional.

Hay previsiones de hacer otro estudio clínico para epilepsia con everolimus a través de Novartis Farmaceutica.

Estudios clínicos

En el año 2008 se comienza un Estudio Clínico auspiciado por la Asociación junto con la Clínica Puigvert en Barcelona .El estudio consiste en administrar a los 20 pacientes un medicamento denominado Rapamicina para buscar la efectividad que tiene principalmente en los angiomiolipomas renales, secundariamente en los astrocitomas cerebrales y por último los angiofibromas faciales, y así de esta forma poder evaluar si la medicación puede ser utilizada en un futuro para Esclerosis Tuberosa.
En el 2010 y a través de la Clínica Puigvert se dará comienzo a un segundo Estudio Clínico cofinanciado por el Laboratorio Novartis especifico de Esclerosis Tuberosa, con un medicamento denominado Everolimus para buscar la eficacia en los angiomiolipomas renales y comparar la toxicidad, efectividad y efectos secundarios de éste y la rapamicina.
En el 2011 y a través del Hospital Niño Jesús, se dará comienzo un tercer estudio clínico cofinanciado por el Laboratorio Novartis específico de Esclerosis Tuberosa de nuevo con el medicamento Everolimus, para buscar la eficacia en SEGA (astrocitoma).

Cirugía de epilepsia

Desde el año 2001 la Asociación tiene conocimiento de la Cirugía de Epilepsia de Esclerosis Tuberosa. Se realiza siempre que el paciente tenga crisis fármaco resistentes, cuando la medicación antiepiléptica ha sido probada durante tres años y no ha sido efectiva o cuando el paciente por éstas tiene una calidad de vida precaria además de afectarle en desarrollo mental .Es aconsejable que cuando el paciente tiene crisis fármaco resistentes y su conducta y desarrollo se estén viendo alterados se haga esta intervención y recomendable antes de los cinco años de edad para tener un mejor resultado de ésta. Entre el 60% hasta el 100% se ha notado mejoría en el paciente que ha pasado por la cirugía de epilepsia.

Próximos Eventos

25/03/2012 12:00	Partido benéfico de FOotball Americano entre Camioneros de Coslada & Las Rozas Black Demons
31/05/2012 17:00	Carrera organizada por la Asociación de Deportes Correcaminos, más información en www.10kcor

Publicaciones

Changes in lung function and chylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus. - 21/06/2011 0:00:00

Conclusion: Sirolimus therapy is associated with improvement or stabilization of lung function and r »
Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences. - 21/06/2011 0:00:00

Conclusion: Women who received a TSC diagnosis in adulthood had minimal morbidity during childhood b »
Mammalian target of rapamycin: a central node of complex signaling cascades. - 20/06/2011 0:00:00

Authors: Dobashi Y, Watanabe Y, Miwa C, Suzuki S, Koyama S The mammalian target of rapamycin (mTO »
Tuberous sclerosis complex in adult women. - 21/06/2011 0:00:00

Authors: PMID: 21690579 [PubMed - in process] (Source: Annals of Internal Medicine)
Tuberous sclerosis complex and lymphangioleiomyomatosis: miles to go, promises to keep. - 21/06/2011 0:00:00

Authors: Henske E PMID: 21690600 [PubMed - in process] (Source: Annals of Internal Medicine)
A topical combination of rapamycin and tacrolimus for the treatment of angiofibroma due to tuberous sclerosis complex : A pilot study of 9 Japanese TSC patients with different disease severity - 21/06/2011 0:00:00

Conclusions: Topical application of rapamycin‐tacrolimus ointment is a safe and useful treatment fo »
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population - 22/06/2011 0:00:00

ConclusionsThese results strengthen the association between paediatric chordoma and TSC. Future clin »
A topical combination of rapamycin and tacrolimus for the treatment of angiofibroma due to tuberous sclerosis complex : A pilot study of 9 Japanese TSC patients with different disease severity. - 21/06/2011 0:00:00

Conclusions: Topical application of rapamycin-tacrolimus ointment is a safe and useful treatment fo »
Treatment of Facial Angiofibromas with Topical Application of Oral Rapamycin Solution (1 mg/mL) in Two Patients with Tuberous Sclerosis. - 21/06/2011 0:00:00

Authors: Mutizwa M, Berk D, Anadkat M PMID: 21692776 [PubMed - as supplied by publisher] (Sou »
Differential Regulation of Protein Synthesis and mTOR Signaling in Skeletal Muscle and Visceral Tissues of Neonatal Pigs after a Meal. - 07/06/2011 0:00:00

Authors: Gazzaneo MC, Orellana RA, Suryawan A, Tuckow AP, Kimball SR, Wilson FA, Nguyen HV, Torrazza »
Tuberous Sclerosis Complex: Imaging Findings - 10/06/2011 7:30:05

Content Type Journal ArticlePages 1-3DOI 10.1007/s12098-011-0453-6AuthorsPankaj Gupta, Department of »
Genetic renal abnormalities - 25/05/2011 22:24:39

Abstract: Inherited disorders of renal structure and function are relatively common causes of end-st »
Treatment of Facial Angiofibromas with Topical Application of Oral Rapamycin Solution (1 mg/mL) in Two Patients with Tuberous Sclerosis - 01/06/2011 0:00:00

(Source: British Journal of Dermatology)
MedWorm Message: Please have a look at this new site driven »
Direct activation of mTOR in B lymphocytes confers impairment in B‐cell maturation andloss of marginal zone B cells - 15/06/2011 0:00:00

AbstractThe tuberous sclerosis complex (TSC), composed of TSC1/TSC2 heterodimers, is inhibitory to t »
Prenatal sonographic diagnosis of tuberous sclerosis complex - 17/06/2011 0:00:00

We report the case of a male fetus with tuberous sclerosis complex (TSC), in whom multiple cardiac r »
[Bacteriologically confirmed pulmonary tuberculosis in a patient with lymphangioleiomyomatosis accompanying tuberous sclerosis syndrome.] - 17/06/2011 14:15:08

We present a young women with a history of TS and LAM, in whom protracting respiratory tract infecti »
Direct activation of mTOR in B lymphocytes confers impairment in B-cell maturation and loss of marginal zone B cells. - 15/06/2011 0:00:00

Authors: Benhamron S, Tirosh B The tuberous sclerosis complex (TSC), composed of TSC1/TSC2 hetero »
Direct activation of mTOR in B lymphocytes confers impairment in B‐cell maturation and loss of marginal zone B cells - 15/06/2011 0:00:00

AbstractThe tuberous sclerosis complex (TSC), composed of TSC1/TSC2 heterodimers, is inhibitory to t »
Cytogenetics: A new tool for early diagnosis and prognosis of tuberous sclerosis? - 30/06/2011 0:00:00

Ashish Singh, S Ambujam, AN UmaIndian Journal of Dermatology 2011 56(3):347-349 (Source: Indian Jour »
Cavernous sinus syndrome from an internal carotid artery aneurysm in an infant with tuberous sclerosis - 05/08/2011 5:00:00

We describe the first case of cavernous sinus syndrome from an intracavernous internal carotid arter »
ULK1 inhibits the kinase activity of mTORC1 and cell proliferation. - 07/08/2011 18:19:52

Authors: Jung CH, Seo M, Otto NM, Kim DH ULK1 (Unc51-like kinase, hATG1) is a Ser/Thr kinase that »
Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent [Medical Sciences] - 26/07/2011 0:00:00

Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome characterized by benign tumors in mu »
Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin. - 30/07/2011 0:00:00

Authors: Chévere-Torres I, Maki JM, Santini E, Klann E Tuberous sclerosis complex (TSC) is a gene »
Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle [Research Communications] - 09/08/2011 0:00:00

Subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) are common brain lesion »
Vagus nerve stimulation for epilepsy: a meta-analysis of efficacy and predictors of response. - 12/08/2011 0:00:00

In conclusion, VNS is an effective and relatively safe adjunctive therapy in patients with medically »
Role of Hamartin in Dbl Transforming Activity [Cell Biology] - 19/08/2011 0:00:00

The Rho guanine nucleotide exchange factor (GEF) Dbl binds to the N-terminal region of ezrin, a memb »
cAMP-Dependent Cytosolic Mislocalization of p27kip-Cyclin D1 During Quinol-Thioether-Induced Tuberous Sclerosis Renal Cell Carcinoma - 11/08/2011 0:00:00

The loss of tuberin, the tuberous sclerosis-2 (Tsc-2) gene product, is associated with cytoplasmic m »
Sustained clinical effectiveness and favorable safety profile of topical sirolimus for tuberous sclerosis – associated facial angiofibroma - 11/08/2011 0:00:00

Conclusions Topical sirolimus seems to be an effective and safe medical alternative to surgery or l »
Autism in tuberous sclerosis: are risk factors identifiable and preventable? - 01/07/2011 17:26:35

Future Neurology , July 2011, Vol. 6, No. 4, Pages 451-454. (Source: Future Neurology)
MedWorm Messag »
Purple glove syndrome following intravenous phenytoin administration - 12/07/2011 0:00:00

A 9-year-old girl was admitted to our paediatric intensive care unit with status epilepticus and Esc »
Pelvic Angiomyolipoma - 30/06/2011 5:00:00

We report a case of pelvic angiomyolipoma in a male patient without stigmata of tuberous sclerosis. »
Expression and cellular distribution of vascular endothelial growth factor‐C system in cortical tubers of the tuberous sclerosis complex - 01/07/2011 0:00:00

AbstractCortical tubers are malformations of cortical development in patients with tuberous sclerosi »
Long-term follow-up of the ketogenic diet for refractory epilepsy: Multicenter Argentinean experience in 216 pediatric patients - 15/07/2011 0:00:00

Conclusion: The ketogenic diet is a good option in the treatment of refractory epilepsy. After disco »
SISCOM in Children with Tuberous Sclerosis Complex-Related Epilepsy - 20/07/2011 22:19:03

Abstract: Identification of a single epileptogenic focus in patients with tuberous sclerosis complex »
Selective Arterial Embolization of Angiomyolipomas: A Comparison of Smaller and Larger Embolic Agents - 25/07/2011 0:00:00

Conclusions: Angioembolization with larger embolic agents is associated with higher long-term effica »
In vivo optical properties of cortical tubers in children with tuberous sclerosis complex (TSC): a preliminary investigation - 18/07/2011 0:00:00

SummaryPurpose: Medically refractory epilepsy caused by cortical tubers resulting from tuberous scl »
Testicular cancer and the tuberous sclerosis complex. - 18/07/2011 0:00:00

Authors: Tandstad T, Indrebø G PMID: 21767201 [PubMed - as supplied by publisher] (Source: Ac »
GLUT1 ENHANCES mTOR ACTIVITY INDEPENDENTLY OF TSC2 AND AMPK. - 25/05/2011 0:00:00

Authors: Buller CL, Heilig CW, Brosius FC Enhanced GLUT1 expression in mesangial cells plays an i »
Cortical Tubers, Cognition, and Epilepsy in Tuberous Sclerosis - 12/04/2011 20:02:31

Tuberous sclerosis complex is an autosomal-dominant genetic disorder characterized by hamartomatous »
Benign Renal Angiomyolipoma With Inferior Vena Cava Thrombosis - 13/04/2011 0:00:00

Conclusion: Surgical treatment of angiomyolipoma with IVC thrombus is warranted in view of risk of m »
Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update - 05/04/2011 11:03:39

Opinion statement Rates of regrowth after resection of subependymal giant cell astrocytoma (SEGA) a »
A pulse rapamycin therapy for infantile spasms and associated cognitive decline. - 12/04/2011 0:00:00

Authors: Raffo E, Coppola A, Ono T, Briggs SW, Galanopoulou AS Infantile spasms are seizures mani »
Farnesylthiosalicylic acid (salirasib) inhibits Rheb in TSC2‐null ELT3 cells: A potential treatment for lymphangioleiomyomatosis - 15/04/2011 0:00:00

AbstractThe small GTPase proteins, Ras and Rheb, serve as molecular switches regulating cell prolife »
Disfiguring morphology of tuberous sclerosis - 19/04/2011 0:00:00

Sujay Khandpur, Sandeep GuptaIndian Journal of Dermatology, Venereology, and Leprology 2011 77(3):40 »
{beta}-Catenin Is a Useful Adjunct Immunohistochemical Marker for the Diagnosis of Pulmonary Lymphangioleiomyomatosis. - 20/04/2011 14:45:39

Authors: Flavin RJ, Cook J, Fiorentino M, Bailey D, Brown M, Loda MF Lymphangioleiomyomatosis (LA »
Vaginal Mass With Urinary Incontinence: A Rare Presentation - 15/04/2011 5:00:00

We report a case of a benign renal AML with a tumor thrombus extending into the IVC in a 46-year-old »
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. - 18/04/2011 0:00:00

CONCLUSIONS: Preventative antiepileptic treatment of infants with tuberous sclerosis complex and hig »
129 Tuberous Sclerosis Presenting as End Stage Renal Disease - 28/03/2011 16:22:40

(Source: American Journal of Kidney Diseases)
An Australian tuberous sclerosis cohort: Are surveillance guidelines being met? - 30/03/2011 0:00:00

Conclusions: The genotypic and phenotypic characteristics of this TSC cohort were consistent with p »
Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration. - 23/03/2011 0:00:00

Authors: Reith RM, Way S, McKenna J, Haines K, Gambello MJ Tuberous sclerosis complex (TSC) is a »
The tuberous sclerosis complex: balancing proliferation and survival. - 26/03/2011 5:53:31

Authors: Tomasoni R, Mondino A Mutations in genes encoding either hamartin [TSC1 (tuberous sclero »
An exceptional minute tumour incidentally found in a renal biopsy - 01/04/2011 0:00:00

We present the first case to date of a minute angiomyolipoma (AML), found incidentally in a renal bi »
Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex - 04/04/2011 0:00:00

Aim: To determine the gender-specific prevalence of pulmonary cysts typical for lymphangioleiomyomat »
Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. - 05/04/2011 9:00:05

In this study we report 3 cases of SEGA out of 29 TSC patients, operated on in the Department of Neu »
Activation of toll-like receptor, RAGE and HMGB1 signalling in malformations of cortical development - 01/04/2011 0:00:00

In this study, we investigated the expression and cellular distribution of toll-like receptors 2 and »
Incidence, Predictors and Associated Outcomes of Renal Cell Carcinoma in Long-term Dialysis Patients - 04/04/2011 0:00:00

We carried out an analysis of the United States Renal Data System to determine the incidence, risk f »
[Uncommon presentation of tuberous sclerosis in an infant.] - 21/04/2011 0:00:00

We report on an infant with an unusual presentation of tuberous sclerosis. After uncomplicated birth »
Targeting phosphatidylinositol 3 kinase (PI3K)-Akt beyond rapalogs - 05/05/2011 17:36:38

Abstract The activation of the phosphatidylinositol 3 kinase (PI3K)-Akt pathway is a known causal m »
Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy. - 07/05/2011 0:00:00

Authors: Schönberger A, Gembe E, Grote A, Witt JA, Elger CE, Bien CG, Urbach H, Becker AJ, Niehusman »
Apigenin, a chemopreventive bioflavonoid, induces AMP‐activated protein kinase activation in human keratinocytes - 02/05/2011 0:00:00

AbstractAMP‐activated protein kinase (AMPK) is a cellular energy sensor that is conserved in eukaryo »
Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA - 03/05/2011 17:05:02

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, caused due to mutation »
The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: What is the most appropriate imaging strategy? - 10/05/2011 7:01:06

Conclusion Case selection for MR imaging is important in children with developmental delay. The bes »
Resistin-induced Hypertrophic Pathways [Signal Transduction] - 20/05/2011 0:00:00

Resistin has been suggested to be involved in the development of diabetes and insulin resistance. We »
Neurosurgical treatment of tuberous sclerosis complex lesions - 23/05/2011 17:58:48

Conclusion These dysplastic lesions are associated with TSC in almost the 100% of affected persons »
Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex - 12/05/2011 0:00:00

We report on a girl affected with tuberous sclerosis, carrying a germline de novo TSC2 mutation, c.4 »
Malignant pigmented clear cell epithelioid cell tumor (PEComa) in an adolescent boy with widespread metastases: a rare entity in this age group - 19/05/2011 17:33:38

We report the radiological-pathological features of a malignant pigmented clear cell epithelioid ren »
Pediatric epileptology. - 27/04/2011 0:00:00

Authors: Sahin M, Miller I, Holmes GL, Sheth RD Challenges facing children with epilepsy are unde »
Sirolimus Therapy for Angiomyolipoma in Tuberous Sclerosis and Sporadic Lymphangioleiomyomatosis: A Phase 2 trial. - 27/04/2011 0:00:00

CONCLUSIONSThis study demonstrated sustained regression of renal angiomyolipomas in patients with tu »
Asymptomatic Fatty Changes in the Myocardium of a Patient With Tuberous Sclerosis - 22/04/2011 17:00:33

We present MRI findings of fatty replacement of the myocardium which was probably after spontaneous »
ERK and Akt signaling pathways function through parallel mechanisms to promote mTORC1 signaling - 26/04/2011 0:00:00

The mammalian target of rapamycin (mTOR) is a protein kinase that, when present in a complex referre »
The Wunderlich's syndrome secondary to massive bilateral angiomyolipomas associated with advanced tuberous sclerosis. - 01/05/2011 0:00:00

We report the case of a 23-year-old female with advanced tuberous sclerosis who presented in hypovol »
Regression of a Cardiac Rhabdomyoma in a Patient Receiving Everolimus - 01/05/2011 0:00:00

We describe here the case of a patient with significant regression of a cardiac rhabdomyoma after re »
Metaplastic bone in a cortical tuber of a young patient with tuberous sclerosis complex - 02/05/2011 0:00:00

(Source: Neurology)
Epithelioid Angiomyolipoma: A Morphologically Distinct Variant That Mimics a Variety of Intra-abdominal Neoplasms. - 01/05/2011 0:00:00

Authors: Mete O, van der Kwast TH Abstract This review examines the histopathologic, immunohistoc »
Hepatic epithelioid angiomyolipoma with trabecular growth pattern: A mimic of hepatocellular carcinoma on fine needle aspiration cytology - 01/05/2011 0:00:00

We report the fine needle aspiration and core biopsy findings of an epithelioid AML in the right hep »
Epilepsy in four genetically determined syndromes of intellectual disability - 06/12/2011 5:00:00

Conclusions The annotation highlights research describing disturbances in excitatory and inhibitory »
Induction of autophagy contributes to the neuroprotection of nicotinamide phosphoribosyltransferase in cerebral ischemia. - 06/12/2011 12:12:11

This study was taken to determine the involvement of autophagy in neuroprotection of Nampt in cerebr »
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex - 01/12/2011 5:00:00

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in th »
Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis. - 01/12/2011 5:00:00

Authors: Cusmai R, Moavero R, Bombardieri R, Vigevano F, Curatolo P Abstract In tuberous scler »
Loss of White Matter Microstructural Integrity Is Associated with Adverse Neurological Outcome in Tuberous Sclerosis Complex - 07/12/2011 20:35:05

Conclusion: Diffusion tensor scalar parameters provided measures of properties of the three-dimensio »
Molecular Analysis of TSC2/PKD1 Contiguous Gene Deletion Syndrome. - 19/12/2011 20:48:02

Conclusion: The identical results obtained with these two completely different methods show that bot »
Neurodevelopmental disorders: A fragile synaptic balance - 20/12/2011 5:00:00

Nature Reviews Neuroscience 13, 3 (2012). doi:10.1038/nrn3163Author: Katherine WhalleyMutation »
Unilateral basal ganglia atrophy in a patient with tuberous sclerosis complex and hemichorea - 15/12/2011 5:00:00

(Source: Movement Disorders)
Everolimus: In Patients with Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex - 16/12/2011 18:25:18

(Source: Pediatric Drugs)
Multiple facial angiofibromas treated with high-frequency equipment - 10/11/2011 7:13:02

Esclerose tuberosa é uma doença genética rara, com herança autossômica dominante, associada à formaç »
Cognitive and adaptive development of patients with tuberous sclerosis complex: A retrospective, longitudinal investigation. - 16/11/2011 5:00:00

CONCLUSION: This study suggests that the developmental course of patients with TSC may be altered by »
Massive bilateral renal angiomyolipomatosis and multifocal micronodular pneumocytes hyperplasia associated with tuberous sclerosis: A case report. - 04/11/2011 4:00:00

Authors: Incedayi M, Sonmez G, Basekim C Abstract Tuberous sclerosis (TS) is an autosomal-domi »
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex [Neuroscience] - 08/11/2011 5:00:00

Tuberous sclerosis complex (TSC) is a multiorgan genetic disease in which brain involvement causes e »
Neurodevelopment: Cell source for brain disorder - 16/11/2011 5:00:00

Nature 479, 7373 (2011). doi:10.1038/479270c Children with a genetic disease called tuberou »
IKK{beta} and NF-{kappa}B Transcription Govern Lymphoma Cell Survival through AKT-Induced Plasma Membrane Trafficking of GLUT1 - 29/11/2011 5:00:00

In this study, we investigated the signals that govern glucose uptake in B-cell lymphomas and determ »
Tuberous Sclerosis Complex–Associated Angiomyolipomas: Focus on mTOR Inhibition - 30/11/2011 5:00:00

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder promoting the development of beni »
Mutations causing syndromic autism define an axis of synaptic pathophysiology - 23/11/2011 5:00:00

Authors: Benjamin D. Auerbach, Emily K. Osterweil & Mark F. Bear Tuberous sclerosis complex and fragile X syndrome are genetic diseases characterized by intellectual disability and autism. Because both syndromes are caused by mutations in genes that regulate protein synthesis in neurons, it has been hypothesized that excessive protein synthesis is one core pathophysiological mechanism of (Source: Nature)
Deletion of Tuberous Sclerosis 1 in Somatic Cells of the Murine Reproductive Tract Causes Female Infertility. - 29/11/2011 5:00:00

We examined whether conditional deletion of TSC1 by a knock-in allele of the anti-Müllerian hormone »
Everolimus: in patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex. - 20/12/2011 13:13:34

Authors: Curran MP Abstract Everolimus is an orally administered inhibitor of the mammalian ta »
A case of valproic acid-induced acute pancre-atitis in tuberous sclerosis coexisting with end-stage renal disease. - 03/02/2012 5:00:00

We report a case of valproic acid-induced acute pancreatitis in a dialysis patient affected by TCS. »
mTOR Increases PTEN [Signal Transduction] - 03/02/2012 5:00:00

Tuberous sclerosis complex 2 (TSC2) and phosphatase and tensin homolog deleted on chromosome 10 (PTE »
Sonographic diagnosis of fetal cardiac rhabdomyomas in two successive pregnancies in a woman with tuberous sclerosis - 30/01/2012 5:00:00

We present two cases of fetal cardiac rhabdomyoma. In each case, fetal ultrasound assessment reveale »
Topical 0.1% rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: A pilot study of four patients. - 01/02/2012 5:00:00

We report a pilot study of topical rapamycin in four children with TSC and facial angiofibromas. Two »
Facial angiofibromas treated with topical rapamycin: An excellent choice with fast response. - 06/02/2012 12:54:18

We report the 6th case of facial AF treated with topical rapamycin, 1 percent, once per day. An exce »
Cytoarchitectural alterations are widespread in cerebral cortex in tuberous sclerosis complex - 10/02/2012 18:27:49

Abstract Tubers are cerebral cortical developmental malformations associated with epilepsy and auti »
Everolimus alters white matter diffusion in tuberous sclerosis complex - 20/02/2012 5:00:00

Conclusion:Significant changes in FA and radial diffusivity were observed after treatment with evero »
Target-of-rapamycin complex 1 (Torc1) signaling modulates cilia size and function through protein synthesis regulation [Developmental Biology] - 07/02/2012 5:00:00

The cilium serves as a cellular antenna by coordinating upstream environmental cues with numerous do »
179 A delayed diagnosis of mistaken mitosis - 09/02/2012 5:00:00

We describe a case of mosaic tuberous sclerosis (TS) and the circumstances leading to its diagnosis. »
Topical 0.1% rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: A pilot study of four patients - 29/12/2011 5:00:00

We report a pilot study of topical rapamycin in four children with TSC and facial angiofibromas. Two »
Hemorrhagic subependymal giant cell astrocytoma in a patient with tuberous sclerosis: Case report and review of the literature - 02/01/2012 5:00:00

Rishi Wadhwa, Imad S Khan, Jaiyeola O Thomas, Anil Nanda, Bharat GuthikondaNeurology India 2011 59(6 »
Abdominal Aorta Aneurysms in Children: Single-Center Experience of Six Patients [ORIGINAL ARTICLES: PEDIATRIC CARDIAC] - 21/12/2011 5:00:00

ConclusionsOur experience indicates that good outcomes can be obtained in children with AAAs with pr »
Genotype and cognitive phenotype of patients with tuberous sclerosis complex - 21/12/2011 5:00:00

Authors: Agnies M van Eeghen, Margaux E Black, Margaret B Pulsifer, David J Kwiatkowski & Elizabeth A Thiele (Source: European Journal of Human Genetics)
Unilateral glomerulocystic kidney disease associated with tuberous sclerosis complex in a neonate - 13/01/2012 5:00:00

We report a case of glomerular cystic kidney disease (GCKD) associated with tuberous sclerosis compl »
Pancreatic endocrine neoplasms: a current update on genetics and imaging. - 17/01/2012 5:00:00

Authors: Philips S, Shah S, Vikram R, Verma S, Shanbhogue AK, Prasad SR Abstract Pancreatic en »
Vigabatrin for Childhood Partial-Onset Epilepsies - 27/01/2012 1:46:49

Abstract: To determine vigabatrin’s effectiveness and the prevalence of symptomatic visual impairmen »
Epilepsy control following intracranial monitoring without resection in young children - 13/01/2012 5:00:00
A Novel Application of Topical Rapamycin Formulation, an Inhibitor of mTOR, for Patients With Hypomelanotic Macules in Tuberous Sclerosis Complex [Correspondence] - 16/01/2012 5:00:00

(Source: Archives of Dermatology)
Hypopigmentary disorders in children in South India - 04/11/2011 4:00:00

Conclusion: Pityriasis alba, vitiligo, leprosy, nevus depigmentosus and tinea versicolor are the fiv »
Presumed Solitary Circumscribed Retinal Astrocytic Proliferation: The 2010 Jonathan W. Wirtschafter Lecture [Clinical Sciences] - 12/09/2011 5:00:00

Conclusion Presumed solitary circumscribed retinal astrocytic proliferation appears to be a unique »
The tumor suppressor tuberin regulates mitotic onset through the cellular localization of cyclin B1. - 15/09/2011 2:23:04

Authors: Fidalgo da Silva E, Ansari SB, Maimaiti J, Barnes EA, Kong-Beltran M, Donoghue DJ, Porter L »
Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex - 09/09/2011 5:00:00

We report on two unrelated females with typical manifestations of TSC, horseshoe kidney, and an iden »
Neurocutaneous syndrome: A prospective study - 10/09/2011 5:00:00

Conclusion: As NCS is not an uncommon disease in children, it is always necessary to find out the su »
Dramatic Improvement of Facial Angiofibromas in Tuberous Sclerosis With Topical Rapamycin: Optimizing a Treatment Protocol [Correspondence] - 19/09/2011 5:00:00

(Source: Archives of Dermatology)
Treatment of facial angiofibromas with topical application of oral rapamycin solution (1 mg mL−1) in two patients with tuberous sclerosis - 29/09/2011 5:43:28

(Source: British Journal of Dermatology)
Tuberous sclerosis presenting with confusion and agitation. - 01/10/2011 5:00:00

Authors: Konda S PMID: 22034717 [PubMed - in process] (Source: Clinical Medicine)
Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner [Medical Sciences] - 20/09/2011 5:00:00

In this report, we use a combination of genetic silencing in vitro and conditional mouse transgenesi »
A topical combination of rapamycin and tacrolimus for the treatment of angiofibroma due to tuberous sclerosis complex (TSC): a pilot study of nine Japanese patients with TSC of different disease severity - 29/09/2011 5:43:25

Conclusions Topical application of rapamycin–tacrolimus ointment is a safe and useful treatment for »
Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex. - 23/08/2011 0:00:00

This study compared the morphological and electrophysiological properties of cortical cells in tissu »
Cathepsin K expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney - 26/08/2011 0:00:00

Authors: Guido Martignoni, Franco Bonetti, Marco Chilosi, Matteo Brunelli, Diego Segala, Mahul B Ami »
Surgical Timing of the Subependymal Giant Cell Astrocytoma (SEGA) with the Patients of Tuberous Sclerosis Complex. - 19/08/2011 23:22:04

CONCLUSION: A multidisciplinary approach is essential for an early, accurate diagnosis and proper ma »
Topical Rapamycin Solution to Treat Multiple Facial Angiofibromas in a Patient With Tuberous Sclerosis. - 20/08/2011 0:00:00

Authors: Valerón-Almazán P, Vitiello M, Abuchar A, Kerdel FA PMID: 21861956 [PubMed - as supplied »
Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin. - 26/08/2011 5:00:00

Authors: Carson RP, Van Nielen DL, Winzenburger PA, Ess KC Abstract Tuberous Sclerosis Complex »
GLUT1 enhances mTOR activity independently of TSC2 and AMPK - 02/09/2011 0:00:00

Enhanced GLUT1 expression in mesangial cells plays an important role in the development of diabetic »
GADD34 mediates cytoprotective autophagy in mutant huntingtin expressing cells via the mTOR pathway. - 07/09/2011 5:00:00

Authors: Hyrskyluoto A, Reijonen S, Kivinen J, Lindholm D, Korhonen L Abstract Increased prote »
Characterization of Cardiac Tumors in Children by Cardiovascular Magnetic Resonance Imaging: A Multicenter Experience - 27/08/2011 14:30:04

Conclusions: Cardiac MRI can predict the likely tumor type in the majority of children with a cardia »
Prevalence of uterine leiomyomas in lymphangioleiomyomatosis - 30/08/2011 2:22:03

Conclusion(s): Uterine leiomyomas are not more common in LAM than in the general population. However »
Two different types of infantile renal cell carcinomas associated with tuberous sclerosis - 01/10/2011 5:00:00

Abstract: Renal cell carcinoma (RCC) associated with tuberous sclerosis (TSC) has been reported in a »
Facial unilateral angiofibromas: A postzygotic tuberous sclerosis like mutation - 21/10/2011 5:00:00

Adone Baroni, Vincenzo Piccolo, Giovanni Montesarchio, Franco Faccenda, Teresa Russo, Rocco Alfredo »
Multimodal approach in the surgical treatment of refractory epilepsy associated with tuberous sclerosis complex: A series of three cases - 22/10/2011 5:00:00

We describe the surgical treatment of tuberous sclerosis complex (TSC)-related refractory epilepsy i »
Tuberous Sclerosis Complex Associated with Papillary Serous Carcinoma of the Peritoneum, Lymphangioleiomyomatosis, and Angiomyolipoma - 19/10/2011 10:39:44

Tuberous sclerosis complex (TSC) is associated with benign and malignant tumors, including lymphangi »
Appetite for destruction: the inhibition of glycolysis as a therapy for tuberous sclerosis complex-related tumors - 21/10/2011 5:00:00

The elevated metabolic requirements of cancer cells reflect their rapid growth and proliferation and »
Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex. - 28/10/2011 5:00:00

Conclusions Our results suggest that PanNETs are the most common pancreatic lesion in patients with »
Lateralized interictal epileptiform discharges during rapid eye movement sleep correlate with epileptogenic hemisphere in children with intractable epilepsy secondary to tuberous sclerosis complex - 01/11/2011 4:00:00

SummaryPurpose: We assessed lateralization of interictal epileptiform discharges (IEDs) in children »
Sustained Activation of mTOR Pathway in Embryonic Neural Stem Cells Leads to Development of Tuberous Sclerosis Complex-Associated Lesions. - 04/11/2011 4:00:00

Authors: Magri L, Cambiaghi M, Cominelli M, Alfaro-Cervello C, Cursi M, Pala M, Bulfone A, Garcìa-Ve »
Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia - 01/11/2011 4:00:00

AbstractObjective:The most common neurological symptom of tuberous sclerosis complex (TSC) and focal »
Mitochondrial "hypermetabolic" neurons in paediatric epileptic foci. - 01/11/2011 4:00:00

Conclusions: Histochemistry of mitochondrial oxidative enzymes reveals scattered and clustered neuro »
Inhibition of the mammalian target of rapamycin blocks epilepsy progression in NS‐Pten conditional knockout mice - 05/10/2011 5:00:00

SummaryPurpose: Increased activity of mTOR Complex 1 (mTORC1) has been demonstrated in cortical dys »
Mammalian target of rapamycin (mTOR) activation in focal cortical dysplasia and related focal cortical malformations. - 08/10/2011 5:00:00

Authors: Wong M Abstract Focal cortical dysplasia (FCD) and other localized malformations of c »
A topical combination of rapamycin and tacrolimus for the treatment of angiofibroma due to tuberous sclerosis complex (TSC): a pilot study of nine Japanese patients with TSC of different disease severity. - 01/10/2011 5:00:00

Conclusions Topical application of rapamycin-tacrolimus ointment is a safe and useful treatment for »
Treatment of facial angiofibromas with topical application of oral rapamycin solution (1 mg mL(-1) ) in two patients with tuberous sclerosis. - 01/10/2011 5:00:00

Authors: Mutizwa MM, Berk DR, Anadkat MJ PMID: 21692776 [PubMed - in process] (Source: The Britis »
Pulmonary Complications of Dermatological Disorders - 12/10/2011 5:00:00

Systemic diseases often manifest with cutaneous findings. Many paediatric conditions with prominent »
Sclerosing variant of perivascular epithelioid cell tumor in the female genital organs - 13/10/2011 5:00:00

We report herein two cases of sclerosing PEComa; a distinctive variant of PEComa, which is character »
ERK Crosstalks with 4EBP1 to Activate Cyclin D1 Translation during Quinol-Thioether-Induced Tuberous Sclerosis Renal Cell Carcinoma - 18/10/2011 5:00:00

The mammalian target of rapamycin (mTOR) and mitogen-activated protein kinase signaling cascades hav »
Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex. - 12/10/2011 5:00:00

We present successful everolimus treatment of a huge subependymal giant cell astrocytoma in a 10-yea »
The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management - 12/10/2011 5:00:00

ConclusionsGenetic testing can be valuable in confirming the diagnosis. Increasing numbers of cases »

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