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https://www.readbyqxmd.com/read/28125953/the-effect-of-tobacco-smoke-exposure-on-generation-of-reactive-oxygen-species-and-cellular-membrane-damage-using-a-co-culture-model-system-of-blood-brain-barrier-with-astrocytes
#1
Seung-Beom Seo, Eun Sang Choe, Kwang-Sik Kim, Soon-Mi Shim
Brain tissue is known to be vulnerable to the exposure by tobacco smoke. Tobacco smoke can induce generation of reactive oxygen species (ROS), causing inflammatory activity and blood-brain barrier (BBB) impairment. The aim of the present study was to investigate the effect of tobacco smoke on cell cytotoxicity, generation of ROS, and cellular membrane damage in astrocytes and BBB using a co-culture system. Cell viability of U373MG cells was reduced in a dose-dependent manner, ranging from 96.7% to 40.3% by tobacco smoke condensate (TSC)...
January 1, 2017: Toxicology and Industrial Health
https://www.readbyqxmd.com/read/28053551/genetics-of-tuberous-sclerosis-complex-implications-for-clinical-practice
#2
REVIEW
Carolina Caban, Nubaira Khan, Daphne M Hasbani, Peter B Crino
Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. There are more than 1,500 known pathogenic variants for TSC1 and TSC2, including deletion, nonsense, and missense mutations, and all pathogenic mutations are inactivating, leading to loss of function effects on the encoded proteins TSC1 and TSC2...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28030635/expression-and-prognostic-value-of-oct-4-in-astrocytic-brain-tumors
#3
Jeanette Krogh Petersen, Per Jensen, Mia Dahl Sørensen, Bjarne Winther Kristensen
BACKGROUND: Glioblastomas are the most frequent type of malignant primary brain tumor with a median overall survival less than 15 months. Therapy resistance of glioblastomas has been attributed to the presence of tumor initiating stem-like cells (TSCs). TSC-related markers have therefore been suggested to have promising potentials as prognostic markers in gliomas. METHODOLOGY/PRINCIPAL FINDINGS: The aim of the present study was to investigate the expression and prognostic impact of the TSC-related marker Oct-4 in astrocytic brain tumors of increasing grade...
2016: PloS One
https://www.readbyqxmd.com/read/28003905/coexistence-of-autism-spectrum-disorders-among-three-children-with-tuberous-sclerosis-complex-case-reports-and-review-of-literature
#4
Amna Al-Futaisi, Ahmed Idris, Abeer Al-Sayegh, Watfa S Al-Mamari
Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD) and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis...
November 2016: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/27974643/increased-total-sodium-concentration-in-gray-matter-better-explains-cognition-than-atrophy-in-ms
#5
Adil Maarouf, Bertrand Audoin, Fanelly Pariollaud, Soraya Gherib, Audrey Rico, Elisabeth Soulier, Sylviane Confort-Gouny, Maxime Guye, Lothar Schad, Jean Pelletier, Jean-Philippe Ranjeva, Wafaa Zaaraoui
OBJECTIVE: To investigate whether brain total sodium accumulation assessed by (23)Na MRI is associated with cognitive deficit in relapsing-remitting multiple sclerosis (RRMS). METHODS: Eighty-nine participants were enrolled in the study (58 patients with RRMS with a disease duration ≤10 years and 31 matched healthy controls). Patients were classified as cognitively impaired if they failed at least 2 tasks on the Brief Repeatable Battery. MRI was performed at 3T using (23)Na MRI to obtain total sodium concentration (TSC) in the different brain compartments (lesions, normal-appearing white matter [NAWM], gray matter [GM]) and (1)H- magnetization-prepared rapid gradient echo to assess GM atrophy (GM fraction)...
December 14, 2016: Neurology
https://www.readbyqxmd.com/read/27923529/total-corpus-callosotomy-for-epileptic-spasms-after-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion-aesd-in-a-case-with-tuberous-sclerosis-complex
#6
Tohru Okanishi, Ayataka Fujimoto, Hirotaka Motoi, Sotaro Kanai, Mitsuyo Nishimura, Tomohiro Yamazoe, Atsushi Takagi, Takamichi Yamamoto, Hideo Enoki
Corpus callosotomy is a palliative therapy for refractory epilepsy, including West syndrome, without a resectable epileptic focus. The surgical outcome of corpus callosotomy is relatively favorable in cryptogenic (non-lesional) West syndrome. Tuberous sclerosis complex (TSC) is a disorder that frequently leads to the development of refractory seizures by multiple cortical tubers. The multiple cortical tubers cause multiple or wide epileptic networks in these cases. Most of West syndrome cases in TSC with multiple tubers need additional resective surgery after corpus callosotomy...
December 3, 2016: Brain & Development
https://www.readbyqxmd.com/read/27797139/tuberous-sclerosis-complex-from-molecular-biology-to-novel-therapeutic-approaches
#7
REVIEW
Katarzyna Switon, Katarzyna Kotulska, Aleksandra Janusz-Kaminska, Justyna Zmorzynska, Jacek Jaworski
Tuberous sclerosis complex (TSC) is a rare multi-system disorder, primary manifestations of which are benign tumors and lesions in various organs of the body, including the brain. TSC patients often suffer from epilepsy, mental retardation, and autism spectrum disorder (ASD). Therefore, TSC serves as a model of epilepsy, ASD, and tumorigenesis. TSC is caused by the lack of functional Tsc1-Tsc2 complex, which serves as a major cellular inhibitor of mammalian Target of Rapamycin Complex 1 (mTORC1). mTORC1 is a kinase controlling most of anabolic processes in eukaryotic cells...
October 31, 2016: IUBMB Life
https://www.readbyqxmd.com/read/27756752/tsc2-deficiency-unmasks-a-novel-necrosis-pathway-that-is-suppressed-by-the-rip1-rip3-mlkl-signaling-cascade
#8
Piotr T Filipczak, Cindy Thomas, Wenshu Chen, Andrew Salzman, Jacob D McDonald, Yong Lin, Steven A Belinsky
Tuberous sclerosis complex (TSC) is a genetic multiorgan disorder characterized by the development of neoplastic lesions in kidney, lung, brain, heart, and skin. It is caused by an inactivating mutation in tumor suppressor genes coding the TSC1/TSC2 complex, resulting in the hyperactivation of mTOR- and Raf/MEK/MAPK-dependent signaling that stimulates tumor cell proliferation and metastasis. Despite its oncogenic effect, cells with TSC deficiency were more sensitive to oxidative stress and dependent on mitochondrial metabolism, providing a rationale for a new therapeutic approach...
December 15, 2016: Cancer Research
https://www.readbyqxmd.com/read/27750396/impaired-oligodendroglial-turnover-is-associated-with-myelin-pathology-in-focal-cortical-dysplasia-and-tuberous-sclerosis-complex
#9
Theresa Scholl, Angelika Mühlebner, Gerda Ricken, Victoria Gruber, Anna Fabing, Sharon Samueli, Gudrun Gröppel, Christian Dorfer, Thomas Czech, Johannes A Hainfellner, Avanita S Prabowo, Roy J Reinten, Lisette Hoogendijk, Jasper J Anink, Eleonora Aronica, Martha Feucht
Conventional antiepileptic drugs suppress the excessive firing of neurons during seizures. In drug-resistant patients, treatment failure indicates an alternative important epileptogenic trigger. Two epilepsy-associated pathologies show myelin deficiencies in seizure-related brain regions: Focal Cortical Dysplasia IIB (FCD) and cortical tubers in Tuberous Sclerosis Complex (TSC). Studies uncovering white matter-pathology mechanisms are therefore urgently needed to gain more insight into epileptogenesis, the propensity to maintain seizures, and their associated comorbidities such as cognitive defects...
October 17, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27698899/is-mtor-inhibitor-good-enough-for-treatment-all-tumors-in-tsc-patients
#10
REVIEW
Samy L Habib, Noor Y Al-Obaidi, Maciej Nowacki, Katarzyna Pietkun, Barbara Zegarska, Tomasz Kloskowski, Wojciech Zegarski, Tomasz Drewa, Edward A Medina, Zhenze Zhao, Sitai Liang
Tuberous sclerosis complex (TSC) is an autosomal dominant and multi-system genetic disorder in humans. TSC affects around 25,000 to 40,000 individuals in the United States and about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. TSC occurs in all races and ethnic groups, and in both genders. TSC is caused by defects or mutations in two genes, TSC1 and TSC2. Loss of TSC1/TSC2 leads to dysregulation of mTOR, resulting in aberrant cell differentiation and development, and abnormal enlargement of cells...
2016: Journal of Cancer
https://www.readbyqxmd.com/read/27690251/subependymal-giant-cell-astrocytoma-in-a-genetically-negative-tuberous-sclerosis-complex-adult-case-report
#11
Sanjay Konakondla, Mayur Jayarao, Jami Skrade, Caterina Giannini, Michael J Workman, Chad J Morgan
INTRODUCTION: The well-described entity of Subependymal Giant Cell Astrocytoma (SEGA) in the setting of Tuberous Sclerosis Complex (TSC) is profound in current literature. It has been described in children as well as adults with or without identifiable clinical presentations of tuberous sclerosis. To our knowledge there has not been any report of a negative genetic workup of Tuberous Sclerosis Complex in an adult patient presenting with an isolated SEGA. CASE REPORT: We present a case of a 25-year-old female with no medical history who presented to the emergency room for headaches...
November 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27585680/treatment-of-renal-angiomyolipoma-in-tuberous-sclerosis-complex-tsc-patients
#12
S Brakemeier, F Bachmann, K Budde
In adult tuberous sclerosis complex (TSC) patients, renal complications are the leading cause of death. Beginning in childhood, up to 80 % of patients develop renal angiomyolipoma characterized by a size-dependent risk of life-threatening bleeding. After discovery of the two causative genes, TSC1 and TSC2, and the role of mammalian target of rapamycin (mTOR) regulation in the pathogenesis of TSC, an increasing number of clinical studies evaluating mTOR inhibition in TSC patients have shown impressive results in many organ manifestations, such as brain, lung, and kidney...
September 1, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27516388/catenin-delta-1-ctnnd1-phosphorylation-controls-the-mesenchymal-to-epithelial-transition-in-astrocytic-tumors
#13
Jin Yang, Alexander G Bassuk, Juliane Merl-Pham, Chun-Wei Hsu, Diana F Colgan, Xiaorong Li, Kit Sing Au, Lijuan Zhang, Scott Smemo, Sally Justus, Yasunori Nagahama, Andrew J Grossbach, Matthew A Howard, Hiroto Kawasaki, Neil A Feldstein, William B Dobyns, Hope Northrup, Stefanie M Hauck, Marius Ueffing, Vinit B Mahajan, Stephen H Tsang
Inactivating mutations of the TSC1/TSC2 complex (TSC1/2) cause tuberous sclerosis (TSC), a hereditary syndrome with neurological symptoms and benign hamartoma tumours in the brain. Since TSC effectors are largely unknown in the human brain, TSC patient cortical tubers were used to uncover hyperphosphorylation unique to TSC primary astrocytes, the cell type affected in the brain. We found abnormal hyperphosphorylation of catenin delta-1 S268, which was reversible by mTOR-specific inhibitors. In contrast, in three metastatic astrocytoma cell lines, S268 was under phosphorylated, suggesting S268 phosphorylation controls metastasis...
October 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27447981/ophthalmic-manifestations-of-tuberous-sclerosis-a-review
#14
REVIEW
Nickisa Hodgson, Michael Kinori, Michael H Goldbaum, Shira L Robbins
Tuberous sclerosis or tuberous sclerosis complex (TSC), one of the phakomatoses, is characterized by hamartomas of the heart, kidney, brain, skin and eyes. Ophthalmologic examinations are required in all cases of TSC. Retinal hamartomas are the most common ocular finding in tuberous sclerosis. The majority of hamartomas are non-progressive; however, lesions with subretinal fluid and progression have been reported. This paper details the genetics, clinical features and ocular findings of TSC and reviews potential therapeutic options for ophthalmic manifestations...
January 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/27425893/functional-aspects-of-early-brain-development-are-preserved-in-tuberous-sclerosis-complex-tsc-epileptogenic-lesions
#15
Gabriele Ruffolo, Anand Iyer, Pierangelo Cifelli, Cristina Roseti, Angelika Mühlebner, Jackelien van Scheppingen, Theresa Scholl, Johannes A Hainfellner, Martha Feucht, Pavel Krsek, Josef Zamecnik, Floor E Jansen, Wim G M Spliet, Cristina Limatola, Eleonora Aronica, Eleonora Palma
Tuberous sclerosis complex (TSC) is a rare multi-system genetic disease characterized by several neurological disorders, the most common of which is the refractory epilepsy caused by highly epileptogenic cortical lesions. Previous studies suggest an alteration of GABAergic and glutamatergic transmission in TSC brain indicating an unbalance of excitation/inhibition that can explain, at least in part, the high incidence of epilepsy in these patients. Here we investigate whether TSC cortical tissues could retain GABAA and AMPA receptors at early stages of human brain development thus contributing to the generation and recurrence of seizures...
November 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27425891/minute-amounts-of-hamartin-wildtype-rescue-the-emergence-of-tuber-like-lesions-in-conditional-tsc1-ablated-mice
#16
Barbara K Robens, Alexander Grote, Julika Pitsch, Susanne Schoch, Carlos Cardoso, Albert J Becker
Tuberous sclerosis (TSC) is a phacomatosis associated with highly differentiated malformations including tubers in the brain. Those are composed of large dysplastic neurons and 'giant cells'. Cortical tubers are frequent causes of chronic seizures and resemble neuropathologically focal cortical dysplasias (FCD) type IIb. Patients with FCDIIb, however, lack additional stigmata of TSC. Mutations and allelic variants of the TSC1 gene have been observed in patients with tubers as well as FCDIIb. Those include hamartin(R692X) and hamartin(R786X), stop mutants frequent in TSC patients and hamartin(H732Y) frequent in FCDIIb...
November 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27406250/genotype-and-brain-pathology-phenotype-in-children-with-tuberous-sclerosis-complex
#17
Iris E Overwater, Rob Swenker, Emma L van der Ende, Kimberley Bm Hanemaayer, Marianne Hoogeveen-Westerveld, Agnies M van Eeghen, Maarten H Lequin, Ans Mw van den Ouweland, Henriëtte A Moll, Mark Nellist, Marie-Claire Y de Wit
Structural brain malformations associated with Tuberous Sclerosis Complex (TSC) are related to the severity of the clinical symptoms and can be visualized by magnetic resonance imaging (MRI). Tuberous Sclerosis Complex is caused by inactivating TSC1 or TSC2 mutations. We investigated associations between TSC brain pathology and different inactivating TSC1 and TSC2 variants, and examined the potential prognostic value of subdivision of TSC2 variants based on their predicted effects on TSC2 expression. We performed genotype-phenotype associations of TSC-related brain pathology on a cohort of 64 children aged 1...
December 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27295297/novel-histopathological-patterns-in-cortical-tubers-of-epilepsy-surgery-patients-with-tuberous-sclerosis-complex
#18
Angelika Mühlebner, Jackelien van Scheppingen, Hanna M Hulshof, Theresa Scholl, Anand M Iyer, Jasper J Anink, Ans M W van den Ouweland, Mark D Nellist, Floor E Jansen, Wim G M Spliet, Pavel Krsek, Barbora Benova, Josef Zamecnik, Peter B Crino, Daniela Prayer, Thomas Czech, Adelheid Wöhrer, Jasmin Rahimi, Romana Höftberger, Johannes A Hainfellner, Martha Feucht, Eleonora Aronica
Tuberous Sclerosis Complex (TSC) is a genetic hamartoma syndrome frequently associated with severe intractable epilepsy. In some TSC patients epilepsy surgery is a promising treatment option provided that the epileptogenic zone can be precisely delineated. TSC brain lesions (cortical tubers) contain dysmorphic neurons, brightly eosinophilic giant cells and white matter alterations in various proportions. However, a histological classification system has not been established for tubers. Therefore, the aim of this study was to define distinct histological patterns within tubers based on semi-automated histological quantification and to find clinically significant correlations...
2016: PloS One
https://www.readbyqxmd.com/read/27282476/multi-compartment-microscopic-diffusion-imaging
#19
Enrico Kaden, Nathaniel D Kelm, Robert P Carson, Mark D Does, Daniel C Alexander
This paper introduces a multi-compartment model for microscopic diffusion anisotropy imaging. The aim is to estimate microscopic features specific to the intra- and extra-neurite compartments in nervous tissue unconfounded by the effects of fibre crossings and orientation dispersion, which are ubiquitous in the brain. The proposed MRI method is based on the Spherical Mean Technique (SMT), which factors out the neurite orientation distribution and thus provides direct estimates of the microscopic tissue structure...
June 6, 2016: NeuroImage
https://www.readbyqxmd.com/read/27267148/the-economic-burden-of-tuberous-sclerosis-complex-in-the-uk-a-retrospective-cohort-study-in-the-clinical-practice-research-datalink
#20
John C Kingswood, Pamela Crawford, Simon R Johnson, Julian R Sampson, Charles Shepherd, Dirk Demuth, Clement Erhard, Paola Nasuti, Keyur Patel, Melissa Myland, Alun Pinnegar, Matthew Magestro, Elizabeth Gray
BACKGROUND: Tuberous sclerosis complex (TSC) is a multi-system genetic disorder characterized by the development of diverse clinical manifestations. The complexity of this disease is likely to result in substantial challenges and costs in disease management throughout the patient's lifetime. This retrospective database study aims to quantify healthcare resources utilized by TSC patients. METHODS: TSC patients in the Clinical Practice Research Datalink linked to the Hospital Episodes Statistics database were identified between January 1987 and June 2013...
November 2016: Journal of Medical Economics
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