9,191 results match your criteria Tuberous Sclerosis


High-grade Oncocytic Tumor (HOT) of Kidney in a Patient with Tuberous Sclerosis Complex.

Histopathology 2019 Apr 19. Epub 2019 Apr 19.

Department of Pathology, Charles University, Medical Faculty and Charles University Hospital Plzen, Czech Republic.

High-grade oncocytic tumor (HOT) was recently proposed as a novel renal entity that is currently not included in the WHO classification. The first published series by He et al included 14 tumors, collected from multiple institutional files. Recently, Chen et al reported another series of 7 morphologically very similar tumors that they designated "sporadic renal cell carcinomas with eosinophilic and vacuolated cytoplasm". Read More

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http://dx.doi.org/10.1111/his.13876DOI Listing

A Genome-Wide Association Study implicates in Lymphangioleiomyomatosis Pathogenesis.

Eur Respir J 2019 Apr 18. Epub 2019 Apr 18.

Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.

Rationale: Lymphangioleiomyomatosis occurs either associated with Tuberous Sclerosis Complex or as sporadic disease (S-LAM). Risk factors for development of S-LAM are unknown.

Objectives: We hypothesised that DNA sequence variants outside of / might be associated with susceptibility for S-LAM, and performed a Genome Wide Association Study (GWAS). Read More

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http://erj.ersjournals.com/lookup/doi/10.1183/13993003.00329
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http://dx.doi.org/10.1183/13993003.00329-2019DOI Listing
April 2019
1 Read

[Tuberous Sclerosis Complex].

Authors:
Mari Kaneda

Brain Nerve 2019 Apr;71(4):374-379

Dermatology, Department of Integrated Medicine, Graduate School of Medicine, Osaka University.

Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disorders that is characterized by the systemic hamartomas, along with epilepsy, cognitive impairment and hypopigmented macules. It is caused by genetic mutations in either TSC1 or TSC2 gene which encodes hamartin and tuberin, respectively. As the hamartin-tuberin-complex downregulates the mechanistic/mammalian target of the rapamycin complex1 (mTORC1), dysfunction in either hamartin or tuberin induces the constitutive activation of mTORC1. Read More

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http://dx.doi.org/10.11477/mf.1416201279DOI Listing

An update on the central nervous system manifestations of tuberous sclerosis complex.

Acta Neuropathol 2019 Apr 11. Epub 2019 Apr 11.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.

The autosomal dominant disorder tuberous sclerosis complex (TSC) is characterized by an array of manifestations both within and outside of the central nervous system (CNS), including hamartomas and other malformations. TSC is caused by mutations in the TSC1 or TSC2 gene resulting in activation of the mechanistic target of rapamycin (mTOR) signaling pathway. Study of TSC has shed light on the critical role of the mTOR pathway in neurodevelopment. Read More

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http://link.springer.com/10.1007/s00401-019-02003-1
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http://dx.doi.org/10.1007/s00401-019-02003-1DOI Listing
April 2019
4 Reads

An update on the central nervous system manifestations of neurofibromatosis type 1.

Acta Neuropathol 2019 Apr 8. Epub 2019 Apr 8.

Department of Pathology, Johns Hopkins University School of Medicine, Sheikh Zayed Tower, Room M2101, 1800 Orleans Street, Baltimore, MD, 21231, USA.

Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene and subsequently, abnormal function of the protein product, neurofibromin. Patients with NF1 are at increased risk for central nervous system (CNS) manifestations including structural, functional, and neoplastic disease. The mechanisms underlying the varied manifestations of NF1 are incompletely understood, but the loss of functional neurofibromin, resulting in sustained activation of the oncoprotein RAS, is responsible for tumorigenesis throughout the body, including the CNS. Read More

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http://dx.doi.org/10.1007/s00401-019-02002-2DOI Listing
April 2019
1 Read

Deceased Donor Renal Transplantation Combined with Bilateral Nephrectomy in a Patient with Tuberous Sclerosis and Renal Failure.

Case Rep Transplant 2019 6;2019:2172163. Epub 2019 Mar 6.

Transplant Surgery Department, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.

Introduction: A 27-year-old female patient with known tuberous sclerosis complex (TSC), polycystic kidneys with multiple large bilateral angiomyolipomas, and failing renal functions with prehemodialysis values (urea: 19 mmol/L; creatinine: 317 mol/L; CKD-EPI 0,27) was admitted to our department for pre-renal transplant evaluation. The patient was placed on the transplant waiting list as the living donor did not pass pretransplant workup and was subsequently contraindicated. Patient was placed on the "cadaverous kidney transplant waiting list". Read More

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http://dx.doi.org/10.1155/2019/2172163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431358PMC
March 2019
1 Read

[Sturge Weber type 3 presenting with occipital epileptic seizure: case report].

Ideggyogy Sz 2019 Mar;72(3-4):131-133

Bakirkoy Prof. Dr. Mazhar Osman Education and Research Hospital For Neuropsychiatry, Neurology Clinic, İstanbul, Turkey.

Sturge Weber syndrome is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. Three distinct types were identified. Type 3 with leptomeningeal involvement alone is the rarest among other types. Read More

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http://dx.doi.org/10.18071/isz.72.0131DOI Listing
March 2019
1 Read

Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration.

Am Psychol 2019 Apr;74(3):356-367

Cincinnati Children's Hospital Medical Center.

The Tuberous Sclerosis Complex Autism Center of Excellence Network (TACERN) is a 6-site collaborative conducting longitudinal research on infants with tuberous sclerosis complex (TSC), focused on identifying early biomarkers for autism spectrum disorder (ASD). A multidisciplinary research team that includes the specialties of psychology, neurology, pediatrics, medical genetics, and speech-language pathology, its members work together to conduct studies on neurological status, brain structure and function, neurodevelopmental phenotype, and behavioral challenges in this population. This article provides insights into the roles of the multidisciplinary multisite team and lessons learned from the collaboration, in terms of research as well as training of future researchers and clinicians. Read More

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http://dx.doi.org/10.1037/amp0000436DOI Listing
April 2019
2 Reads

NitroSynapsin for the treatment of neurological manifestations of tuberous sclerosis complex in a rodent model.

Neurobiol Dis 2019 Mar 27;127:390-397. Epub 2019 Mar 27.

Scintillon Institute, San Diego, CA 92121, USA; Department of Neurosciences, University of California San Diego, School of Medicine, La Jolla, CA 92093, USA; Neuroscience Translational Center, Departments of Molecular Medicine and Neuroscience, The Scripps Research Institute, La Jolla, CA 92037, USA. Electronic address:

Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by heterozygous mutations in the TSC1 or TSC2 gene. TSC is often associated with neurological, cognitive, and behavioral deficits. TSC patients also express co-morbidity with anxiety and mood disorders. Read More

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http://dx.doi.org/10.1016/j.nbd.2019.03.029DOI Listing
March 2019
3 Reads

Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis.

Orphanet J Rare Dis 2019 Mar 29;14(1):72. Epub 2019 Mar 29.

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

Endostatin is a naturally occurring collagen fragment with anti-angiogenic properties. We investigated the association between serum endostatin levels and DLCO in a cohort of patients with lymphangioleiomyomatosis (LAM). Associations of endostatin levels to clinical features of LAM were explored using logistic regression models. Read More

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http://dx.doi.org/10.1186/s13023-019-1050-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440133PMC
March 2019
2 Reads

Histone deacetylase inhibitors restore normal hippocampal synaptic plasticity and seizure threshold in a mouse model of Tuberous Sclerosis Complex.

Sci Rep 2019 Mar 27;9(1):5266. Epub 2019 Mar 27.

Department of Neuroscience, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.

Abnormal synaptic plasticity has been implicated in several neurological disorders including epilepsy, dementia and Autism Spectrum Disorder (ASD). Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder that manifests with seizures, autism, and cognitive deficits. The abnormal intracellular signaling underlying TSC has been the focus of many studies. Read More

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http://dx.doi.org/10.1038/s41598-019-41744-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437206PMC
March 2019
3 Reads

[The effect of downregulation of MCT1 on the proliferation of glioma cells].

Zhonghua Zhong Liu Za Zhi 2019 Mar;41(3):208-213

the Third Ward of Neurosurgery, Nanyang Central Hospital, Nanyang 473000, China.

To investigate the molecular mechanism of down-regulation of monocarboxylic acid transporter 1 (MCT1) on the proliferation inhibition of glioma cell. siMCT1, siMCT4 and negative control siRNA were transfected into glioma cell lines including U-251 and U-87. The proliferation activities of U-251 and U-87 cells were detected by 3-(4, 5-dimethyl-2-thiazolyl)-2, 5-diphenyl-2H tetrazolium bromide (MTT) assay and clonogenic assay. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-3766.2019.03.010DOI Listing
March 2019
4 Reads

Finding a cure for tuberous sclerosis complex: From genetics through to targeted drug therapies.

Adv Genet 2019 20;103:91-118. Epub 2018 Dec 20.

Division of Cancer and Genetics, Cardiff University, Cardiff, United Kingdom. Electronic address:

Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Phenotypically, this leads to aberrant cell growth and the formation of benign tumors called hamartomas in multiple organs. Understanding the mechanisms of pathology that are caused through the presence of disease causing mutations is a real hurdle for many rare genetic disorders; a limiting factor that restricts knowledge of the disease and any hope of a future cure. Read More

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http://dx.doi.org/10.1016/bs.adgen.2018.11.003DOI Listing
December 2018
2 Reads

New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives.

J Anat 2019 Mar 22. Epub 2019 Mar 22.

Department of Neuropathology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

In recent years the role of the mammalian target of rapamycin (mTOR) pathway has emerged as crucial for normal cortical development. Therefore, it is not surprising that aberrant activation of mTOR is associated with developmental malformations and epileptogenesis. A broad spectrum of malformations of cortical development, such as focal cortical dysplasia (FCD) and tuberous sclerosis complex (TSC), have been linked to either germline or somatic mutations in mTOR pathway-related genes, commonly summarised under the umbrella term 'mTORopathies'. Read More

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http://dx.doi.org/10.1111/joa.12956DOI Listing
March 2019
1 Read

Renal function, complications, and outcomes of a reduction in tumor size after transarterial embolization for renal angiomyolipomas: a meta-analysis.

J Int Med Res 2019 Apr 21;47(4):1417-1428. Epub 2019 Mar 21.

Department of Interventional Radiology and Vascular Surgery, Peking University First Hospital, Beijing, P.R. China.

Objective: The present study aimed to evaluate renal function, complications, and changes in tumor size after transarterial embolization for patients with renal angiomyolipomas.

Methods: We performed a meta-analysis of transarterial embolization in patients with renal angiomyolipomas from January 1994 to April 2018. Endpoints of interest were the estimated glomerular filtration rate, serum creatinine levels, blood urea nitrogen levels, complications, and reduction of tumors. Read More

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http://dx.doi.org/10.1177/0300060519834447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460598PMC
April 2019
2 Reads

Perinatal unusual rhabdomyoma location - case report and systematic reviews of the literature.

J Matern Fetal Neonatal Med 2019 Apr 2:1-15. Epub 2019 Apr 2.

a Pediatric Cardiac Center of the Messejana Hospital Dr. Carlos Alberto Studart Gomes , Fortaleza , Brazil.

Objective: To report a case of prenatal diagnosis of cardiac rhabdomyoma (CR) and neonatal surgical treatment as well as undertaking a systematic review of the literature to determine most frequent localization of CR, common signs and symptoms, associated pathologies, incidence of surgery, and prognoses for CR.

Methods: We conducted systematic review of the literature on CR that were diagnosed and treated in the perinatal period, searching for English language articles in the PubMed/Medline database that were published within the past 20 years, using the following search terms: "cardiac rhabdomyoma"; "neonates"; "newborn"; "surgery".

Results: Eighty-two studies were selected, but only 46 studies met the inclusion criteria. Read More

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https://www.tandfonline.com/doi/full/10.1080/14767058.2019.1
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http://dx.doi.org/10.1080/14767058.2019.1597044DOI Listing
April 2019
7 Reads

Tuberous Sclerosis.

J Pak Med Assoc 2019 Mar;69(3):445

Department of Radiology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.

Tuberous sclerosis is a rare genetic disorder inherited in an autosomal dominant fashion. It is a multisystem disorder involving brain, eye, skin, kidney and lungs which manifest in late childhood. We present a typical case of tuberous sclerosis in a young female patient. Read More

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March 2019
6 Reads

Angiomyolipoma of the Adrenal Glands.

Clin Genitourin Cancer 2019 Feb 13. Epub 2019 Feb 13.

Department of Diagnostic Radiology, University of Illinois at Chicago, Chicago, IL. Electronic address:

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http://dx.doi.org/10.1016/j.clgc.2019.02.004DOI Listing
February 2019

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.

Authors:
Yicong Ye Yong Zeng

Sci Rep 2019 Mar 14;9(1):4456. Epub 2019 Mar 14.

Department of Cardiology, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China.

This study was aimed to identify the potentially pathogenic gene variants that contribute to the etiology of the tuberous sclerosis complex. A Chinese pedigree with tuberous sclerosis complex was collected and the exomes of two affected individuals were sequenced using the whole exome sequencing technology. The resulting variants from whole exome sequencing were filtered by basic and advanced biological information analysis and the candidate mutation was verified as heterozygous by sanger sequencing. Read More

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http://dx.doi.org/10.1038/s41598-019-38898-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418313PMC

Identifying mutations in epilepsy genes: Impact on treatment selection.

Epilepsy Res 2019 05 4;152:18-30. Epub 2019 Mar 4.

Division of Clinical and Experimental Pharmacology, Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy; Clinical Trial Center, IRCCS Mondino Foundation, Pavia, Italy.

The last decade saw impressive advances not only in the discovery of gene mutations causing epilepsy, but also in unraveling the molecular mechanisms underlying the clinical manifestations of the disease. Increasing evidence is emerging that understanding these mechanisms is relevant for selection of the most appropriate treatment in the affected individual(s). The present article discusses the therapeutic implications of epilepsy-causing variants affecting a broad range of targets, from ion channels to genes controlling cellular metabolism and cell signaling pathways. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2019.03.001DOI Listing
May 2019
5 Reads

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

Epilepsia Open 2019 Mar 21;4(1):73-84. Epub 2018 Dec 21.

Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre St Georges University of London London UK.

Objective: To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC).

Methods: Retrospective and prospective patients' data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. Read More

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http://doi.wiley.com/10.1002/epi4.12286
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http://dx.doi.org/10.1002/epi4.12286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398114PMC
March 2019
16 Reads

Withdrawn

Authors:

CNS Neurol Disord Drug Targets 2019 Mar 12. Epub 2019 Mar 12.

Background: Loss of the Pten (phosphatase and tensin homolog) gene has been demonstrated to result in hyperactivation of the mammalian target of rapamycin (mTOR) pathway, a signaling pathway common to many disease etiologies, including tuberous sclerosis complex, Fragile X syndrome, and schizophrenia. Previous studies have focused on the impact of hyperactivation of the mTOR pathway in hippocampus and cortex and behaviors among those structures, but little is known about the relationship of Pten and mTOR signaling in the development and function of the cerebellum.

Objective: The purpose of this investigation was to examine cerebellar levels of several molecular signaling pathways, including PI3K/AKT/mTOR signaling and markers of neuronal migration, following loss of Pten in a subset of neurons, as well as the accompanying behavior phenotype. Read More

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March 2019
4 Reads
2.628 Impact Factor

Tuberous sclerosis presenting with tachycardia as an autonomic phenomenon of epilepsy.

Pediatr Int 2019 Mar 10;61(3):307-309. Epub 2019 Mar 10.

Department of Pediatrics, Kakogawa Central City Hospital, Kakogawa, Hyogo, Japan.

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http://doi.wiley.com/10.1111/ped.13782
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http://dx.doi.org/10.1111/ped.13782DOI Listing
March 2019
3 Reads

What's New in Genetic Skin Diseases.

Dermatol Clin 2019 Apr;37(2):229-239

Department of Dermatology, University of Alabama at Birmingham, 1940 Elmer J. Bissell Road, Birmingham, AL 35243, USA. Electronic address:

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care. Read More

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http://dx.doi.org/10.1016/j.det.2018.11.004DOI Listing
April 2019
1 Read

Analysis of the MILES cohort reveals determinants of disease progression and treatment response in lymphangioleiomyomatosis.

Eur Respir J 2019 Apr 4;53(4). Epub 2019 Apr 4.

University of Cincinnati, Cincinnati, OH, USA.

Introduction: The Multicenter International Lymphangioleiomyomatosis (LAM) Efficacy of Sirolimus (MILES) trial revealed that sirolimus stabilised lung function in patients with moderately severe LAM. The purpose of this study was to further examine the MILES cohort for the effects of racial, demographic, clinical and physiological patient characteristics on disease progression and treatment response in LAM.

Methods: MILES subjects were stratified on the basis of menopausal status (pre-menopausal/post-menopausal), race (Asian/Caucasian), bronchodilator responsiveness (present/absent), initial forced expiratory volume in 1 s (FEV; 51-70% ≤50% predicted) and tuberous sclerosis complex (TSC) association (yes/no). Read More

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http://dx.doi.org/10.1183/13993003.02066-2018DOI Listing
April 2019
5 Reads

Fibrous Cephalic Plaque in Tuberous Sclerosis Complex: Treatment With 0.2% Rapamycin.

Actas Dermosifiliogr 2019 Mar 4. Epub 2019 Mar 4.

Departamento de Dermatología, Hospital Universitari Son Espases, Palma de Mallorca, Mallorca, España.

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http://dx.doi.org/10.1016/j.ad.2018.02.041DOI Listing

Clinicopathologic analysis of renal epithelioid angiomyolipoma: Consecutively excised 23 cases.

Kaohsiung J Med Sci 2019 Jan;35(1):33-38

Division of Urology, Department of Surgery, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

Renal epithelioid angiomyolipoma (eAML) is considered a malignant variant of angiomyolipoma (AML). From 2001 to 2016, a total of 570 patients were diagnosed with renal AML in Linko Chang Gung Memorial Hospital, Taiwan, including 23 cases of renal eAML. All 23 eAML cases were made up of at least 10% of epithelioid cells histologically. Read More

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http://dx.doi.org/10.1002/kjm2.12006DOI Listing
January 2019
1 Read

Survival prediction of tuberous sclerosis complex gene variant in patients with advanced non-small-cell lung cancer treated with platinum doublet.

Biosci Rep 2019 Mar 19;39(3). Epub 2019 Mar 19.

Department of Internal Medicine, Inha University Hospital, Incheon, Korea.

Tuberous sclerosis complex (TSC) 1 and 2 function as tumor suppressors by inactivating the mammalian target of rapamycin (mTOR) pathway. Although the effect of platinum on TSC function has been studied, associations between gene variants and survival of cancer patients treated with platinum-based chemotherapy were not evaluated. Genetic variants of and were identified by next-generation sequencing and selected for further clinical evaluation based on predetermined criteria. Read More

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http://dx.doi.org/10.1042/BSR20181426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422885PMC
March 2019
8 Reads

One-Hit Wonders and 2-Hit Tubers: A Second-Hit to TSC2 Causes Tuber-Like Cells in Spheroids.

Epilepsy Curr 2019 Jan 31;19(1):49-50. Epub 2019 Jan 31.

Genetically Engineered Human Cortical Spheroid Models of Tuberous Sclerosis Blair JD, Hockemeyer D, Bateup HS. Nat Med. 2018;24(10):1568-1578. Read More

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http://dx.doi.org/10.1177/1535759718822036DOI Listing
January 2019

The direct cost of seizure events in severe childhood-onset epilepsies: A retrospective claims-based analysis.

Epilepsy Behav 2019 Mar 1;93:65-72. Epub 2019 Mar 1.

Greenwich Biosciences, Inc., Carlsbad, CA, USA.

Objective: The objective of the study was to assess the direct cost of medically treated seizure events in severe childhood-onset epilepsies. Lennox-Gastaut syndrome (LGS), Dravet syndrome (DS), and tuberous sclerosis complex (TSC) are representative conditions associated with frequent intractable seizures.

Methods: Commercial and Medicaid insurance claims from 2010 to 2015 were queried to identify patients with possible LGS, possible DS, or TSC, having ≥2 years of continuous insurance from the date of first epilepsy/seizure diagnosis or antiepileptic drug (AED) fill (index date). Read More

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http://dx.doi.org/10.1016/j.yebeh.2019.01.045DOI Listing
March 2019
3 Reads

Dermoscopy of subungual red comets associated with tuberous sclerosis complex.

Pediatr Dermatol 2019 Mar 3. Epub 2019 Mar 3.

Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

We report here our experience on the use of dermoscopy for the detection of subungual red comets, which are sometimes present in the nails of patients affected by tuberous sclerosis complex. Dermoscopy allowed us to visualize, with better resolution than the naked eye, very tortuous capillaries surrounded by a whitish halo and close parallel binary tortuous capillaries. In some cases, subungual red comets are associated with the presence of periungual or subungual fibromas, but their exact pathogenesis remains unknown. Read More

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http://dx.doi.org/10.1111/pde.13798DOI Listing
March 2019
3 Reads

Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures.

Dev Med Child Neurol 2019 Mar 4. Epub 2019 Mar 4.

PCO, Adelphi Values Ltd, Bollington, UK.

Aim: To assess the relevance and generalizability across countries of concepts of the impact of Dravet syndrome beyond seizures, as recognized by families.

Method: Caregivers of children with Dravet syndrome in four countries (Australia [n=8]; USA, UK, and Italy [all n=4]) participated in 1-hour qualitative telephone interviews, identifying key Dravet syndrome concepts. Interviews were recorded, transcribed, and, where necessary, translated into English for thematic analysis. Read More

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http://doi.wiley.com/10.1111/dmcn.14186
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http://dx.doi.org/10.1111/dmcn.14186DOI Listing
March 2019
5 Reads

GSK-3β at the Crossroads in Regulating Protein Synthesis and Lipid Deposition in Zebrafish.

Cells 2019 Feb 28;8(3). Epub 2019 Feb 28.

Anti-aging & Regenerative Medicine Research Institution, School of Life Sciences, Shandong University of Technology, Zibo 255000, China.

In this study, the mechanism by which GSK-3β regulates protein synthesis and lipid deposition was investigated in zebrafish (). The vector of pEGFP-N1-GSK-3β was constructed and injected into the muscle of zebrafish. It was found that the mRNA and protein expression of tuberous sclerosis complex 2 (TSC2) was significantly increased. Read More

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http://dx.doi.org/10.3390/cells8030205DOI Listing
February 2019

Dynamic thiol/disulphide homeostasis in children with neurofibromatosis type 1 and tuberous sclerosis.

Acta Neurol Belg 2019 Feb 28. Epub 2019 Feb 28.

Department of Pediatric Neurology, Cukurova University Faculty of Medicine, Adana, Turkey.

Neurofibromatosis type 1 (NF1) and tuberous sclerosis (TSC) are autosomal dominant neurocutaneous diseases. Epilepsy, malignancy and other neurological complications are common in both diseases. We aimed to investigate the thiol/disulphide balance as an oxidative stress marker in children who suffer from NF1 and TSC. Read More

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http://dx.doi.org/10.1007/s13760-019-01100-yDOI Listing
February 2019
1 Read
0.598 Impact Factor

Serum vascular endothelial growth factor-D as a diagnostic and therapeutic biomarker for lymphangioleiomyomatosis.

PLoS One 2019 28;14(2):e0212776. Epub 2019 Feb 28.

Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Osaka, Japan.

Background: In lymphangioleiomyomatosis (LAM), tuberous sclerosis gene mutations activate the mechanistic target of the rapamycin pathway, resulting in vascular endothelial growth factor-D (VEGF-D) overproduction. While the utility of serum VEGF-D testing for the diagnosis of LAM is outlined in ATS/JRS LAM Guidelines, the assay has not been fully validated for Asian populations. Our aims were to validate serum VEGF-D testing in Japan, by directly comparing measurements in Japan and the U. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212776PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395035PMC
February 2019
4 Reads

Rapalog resistance is associated with mesenchymal-type changes in Tsc2-null cells.

Sci Rep 2019 Feb 28;9(1):3015. Epub 2019 Feb 28.

Division of Pediatric Nephrology, Department of Pediatrics, College of Medicine, University of Tennessee Health Sciences Center, Memphis, TN, 38103, USA.

Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) are caused by inactivating mutations in TSC1 or TSC2, leading to mTORC1 hyperactivation. The mTORC1 inhibitors rapamycin and analogs (rapalogs) are approved for treating of TSC and LAM. Due to their cytostatic and not cytocidal action, discontinuation of treatment leads to tumor regrowth and decline in pulmonary function. Read More

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http://dx.doi.org/10.1038/s41598-019-39418-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395747PMC
February 2019
1 Read

Hyperactivation of mTORC1 disrupts cellular homeostasis in cerebellar Purkinje cells.

Sci Rep 2019 Feb 26;9(1):2799. Epub 2019 Feb 26.

Laboratory of Animal Resources, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-0033, Japan.

Mammalian target of rapamycin (mTOR) is a central regulator of cellular metabolism. The importance of mTORC1 signaling in neuronal development and functions has been highlighted by its strong relationship with many neurological and neuropsychiatric diseases. Previous studies demonstrated that hyperactivation of mTORC1 in forebrain recapitulates tuberous sclerosis and neurodegeneration. Read More

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http://dx.doi.org/10.1038/s41598-019-38730-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391425PMC
February 2019
2 Reads

Extrapulmonary uterine lymphangioleiomyomatosis (LAM) and dysfunctional uterine bleeding: the first presentation of LAM in a tuberous sclerosis complex patient.

BMJ Case Rep 2019 Feb 25;12(2). Epub 2019 Feb 25.

Department of Cellular Pathology, New Cross Hospital, Wolverhampton, UK.

Lymphangioleiomyomatosis (LAM) is a rare disease that typically affects women of childbearing age. It most commonly affects the lungs (P-LAM) but can occasionally occur in extra-pulmonary sites (E-LAM). There is a strong association between LAM and the tuberous sclerosis complex (TSC). Read More

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http://dx.doi.org/10.1136/bcr-2018-226358DOI Listing
February 2019
3 Reads

Nevus depigmentosus: review of a mark of distinction.

Int J Dermatol 2019 Feb 22. Epub 2019 Feb 22.

Dermatology, Pediatric Medicine, and Pathology, Rutgers New Jersey Medical School, Newark, NJ, USA.

Nevus depigmentosus (ND), also known as nevus achromicus or achromic nevus, is an uncommon congenital hypomelanosis of the skin that is often characterized as being nonprogressive and having serrated borders. It needs to be distinguished from other hypopigmented skin conditions such as nevus anemicus, hypomelanosis of Ito, Fitzpatrick patches (ash leaf spots) of tuberous sclerosis, vitiligo, indeterminate leprosy, and pigment demarcation lines. Treatment may be desired for aesthetic and possible psychosocial considerations. Read More

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http://dx.doi.org/10.1111/ijd.14393DOI Listing
February 2019
4 Reads

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

PLoS One 2019 22;14(2):e0212370. Epub 2019 Feb 22.

Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan.

Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary disease, generally manifesting as a tuberous sclerosis complex (TSC), characterised by multiple, small ground-glass nodular shadows on chest computed tomography (CT). Histological examination typically reveals multicentric, well-demarcated, nodular type II pneumocystic growth. Herein, we describe three cases of this rare pulmonary disease occurring within one family. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212370PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386448PMC
February 2019
1 Read

Activation of mTORC1 in subchondral bone preosteoblasts promotes osteoarthritis by stimulating bone sclerosis and secretion of CXCL12.

Bone Res 2019 20;7. Epub 2019 Feb 20.

1Department of Orthopedics, Academy of Orthopedics-Guangdong Province, The Third Affiliated Hospital of Southern Medical University, 510630 Guangzhou, China.

Increasing evidences show that aberrant subchondral bone remodeling plays an important role in the development of osteoarthritis (OA). However, how subchondral bone formation is activated and the mechanism by which increased subchondral bone turnover promotes cartilage degeneration during OA remains unclear. Here, we show that the mechanistic target of rapamycin complex 1 (mTORC1) pathway is activated in subchondral bone preosteoblasts (Osterix+) from OA patients and mice. Read More

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http://dx.doi.org/10.1038/s41413-018-0041-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381187PMC
February 2019
1 Read

Lymphangioleiomyoma of the Uterus and Pelvic Lymph Nodes: A Report of 3 Cases, Including the Potentially Earliest Manifestation of Extrapulmonary Lymphangioleiomyomatosis.

Int J Gynecol Pathol 2019 Feb 14. Epub 2019 Feb 14.

Departments of Pathology (H.A., H.T., R.D., S.A.) Gynecology (Y.W., K.T., C.N., K.I., R.T., R.N., S.Y., T.T., A.W.), City Hospital of Toyonaka Department of Gynecology and Obstetrics, Osaka University Hospital (M.O.), Osaka, Japan.

We present 3 cases of extrapulmonary lymphangioleiomyomatosis (LAM) identified incidentally in uterine corpus and pelvic nodes resected for other reasons. One patient, a 47-yr-old female with corpus cancer, underwent a total hysterectomy and nodal dissection; the other 2 patients, aged 44 and 49 yr, underwent simple hysterectomy for corpus leiomyomas. None of the patients had evidence of tuberous sclerosis complex or any significant lesions in other organs. Read More

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http://Insights.ovid.com/crossref?an=00004347-900000000-9912
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http://dx.doi.org/10.1097/PGP.0000000000000589DOI Listing
February 2019
6 Reads

Neuronal spiking activity highlights a gradient of epileptogenicity in human tuberous sclerosis lesions.

Clin Neurophysiol 2019 Apr 30;130(4):537-547. Epub 2019 Jan 30.

Centre de Recherche Cerveau et Cognition, Université de Toulouse, Université Paul Sabatier Toulouse, Toulouse F-31330, France; Centre National de la Recherche Scientifique, CerCo, UMR 5549, Toulouse F-31052, France.

Objective: The mechanisms underlying epileptogenicity in tuberous sclerosis complex (TSC) are poorly understood.

Methods: We analysed neuronal spiking activity (84 neurons), fast ripples (FRs), local field potentials and intracranial electroencephalogram during interictal epileptiform discharges (IEDs) in the tuber and perituber of a patient using novel hybrid electrodes equipped with tetrodes.

Results: IEDs were recorded in the tuber and perituber. Read More

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http://dx.doi.org/10.1016/j.clinph.2018.12.013DOI Listing
April 2019
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MR findings of uterine PEComa in patients with tuberous sclerosis: report of two cases.

Abdom Radiol (NY) 2019 Apr;44(4):1256-1260

Department of Radiology, University of Tsukuba Hospital, 2-1-1 Amakubo, Tsukuba, Ibaraki, 305-8576, Japan.

Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous disorder, is characterized by the presence of benign congenital tumors in multiple organs. Neoplasms with perivascular epithelioid cell differentiation (PEComas), including angiomyolipoma (AML) and lymphangioleiomyomatosis (LAM), can occur in association with TSC. This report describes two cases of uterine PEComas presenting characteristic MR imaging features reflecting pathological findings. Read More

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http://dx.doi.org/10.1007/s00261-019-01918-3DOI Listing
April 2019
1 Read