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https://www.readbyqxmd.com/read/28414661/delayed-presentation-of-tuberour-sclerosis-complex-in-adult-women
#1
J Manalac, S Sadd, G Akoghlanian, T Benoit-Clark
INTRODUCTION: Tuberous sclerosis complex (TSC); is an autosomal dominant disorder characterized by the formation of hamartomatous lesions in multiple organs, with a birth incidence of around one in 10,000. Although it usually manifests itself in early life, we present a case of an adult woman who we diagnosed with TSC. CASE: A 27 year old woman presented to Emergency Department with worsening right flank pain and progressive dyspnea. Physical examination findings revealed Shagreen patches and multiple angiomyolipomas of the skin...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#2
Stephanie Carapetian Randle
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28367137/epilepsy-mechanisms-in-neurocutaneous-disorders-tuberous-sclerosis-complex-neurofibromatosis-type-1-and-sturge-weber-syndrome
#3
REVIEW
Carl E Stafstrom, Verena Staedtke, Anne M Comi
Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28298732/imaging-of-tuberous-sclerosis-complex-a-pictorial-review
#4
Felipe Mussi von Ranke, Igor Murad Faria, Gláucia Zanetti, Bruno Hochhegger, Arthur Soares Souza, Edson Marchiori
Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions...
January 2017: Radiologia Brasileira
https://www.readbyqxmd.com/read/28291513/astrocytic-tumor-with-large-cells-and-worrisome-features-in-two-patients-with-tuberous-sclerosis-drastically-different-diagnoses-and-prognoses
#5
Thomas Roux, Isabelle An-Gourfinkel, Anne Bertrand, Franck Bielle
INTRODUCTION: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease, characterized by the development of benign tumors in several organs. During infancy, 6 - 20% of patients develop brain tumors called subependymal giant cell astrocytoma (SEGA). CASE REPORTS: Here we present two patients with TSC, who displayed acute intracranial tumors requiring surgery. Although both tumors shared similar histological aspects with large astrocytic cells and worrisome features, immunohistochemical and genetic analysis successfully distinguished an opposite diagnosis for the two patients...
March 14, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28283837/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-related-to-or-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-ii-angiogenesis-and-inflammation-related-molecular-pathways-tumor-associated-macrophages-and-possible
#6
REVIEW
Yosef Laviv, Burkhard Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neurocutaneous manifestations as well as characteristic tumors. Neurofibromatosis type 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. A vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with these syndromes, related to NF2 and TSC, respectively. These tumors can present with an obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 11, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28265819/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-i-historical-observations-and-clinical-perspectives-on-the-etiology-of-increased-csf-protein-levels-csf-clotting
#7
REVIEW
Yosef Laviv, Burkhard S Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neuro-cutaneous manifestations as well as disease characteristic tumors. Neurofibromatosis 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. Vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with NF2 and TSC, respectively. These tumors can present with obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 7, 2017: Neurosurgical Review
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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...
May 2017: Brain & Development
https://www.readbyqxmd.com/read/27797139/tuberous-sclerosis-complex-from-molecular-biology-to-novel-therapeutic-approaches
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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