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Tuberous Sclerosis Complex

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https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#1
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28105182/long-lasting-stable-disease-with-mtor-inhibitor-treatment-in-a-patient-with-a-perivascular-epithelioid-cell-tumor-a-case-report-and-literature-review
#2
Ezequiel Flechter, Yaniv Zohar, Ludmila Guralnik, Maria Passhak, Gil Bar Sela
Perivascular epithelioid cell tumor (PEComa) of the small intestine is extremely rare, and there is no established treatment at the present time. In 10% of patients with PEComas, genetic alterations of tuberous sclerosis complex have been reported. These genetic alterations activate mechanistic target of rapamycin (mTOR) in AMP-activated protein kinase and Ras/mitogen-activated protein kinase pathways, resulting in high mTOR activity. Since 2007, several cases of treatment with mTOR inhibitors in advanced PEComa have been reported...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28099079/lymphangioleiomyomatosis-a-monogenic-model-of-malignancy
#3
Vera P Krymskaya, Francis X McCormack
Lymphangioleiomyomatosis (LAM) is a rare, low-grade, metastasizing neoplasm that arises from an unknown source, spreads via the lymphatics, and targets the lungs. All pulmonary structures become infiltrated with benign-appearing spindle and epithelioid cells (LAM cells) that express smooth-muscle and melanocyte-lineage markers, harbor mTOR-activating mutations in tuberous sclerosis complex (TSC) genes, and recruit abundant stromal cells. Elaboration of lymphangiogenic growth factors and matrix remodeling enzymes by LAM cells enables their access to lymphatic channels and likely drives the cystic lung remodeling that often culminates in respiratory failure...
January 14, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/28089566/metformin-inhibits-hepatic-mtorc1-signaling-via-dose-dependent-mechanisms-involving-ampk-and-the-tsc-complex
#4
Jessica J Howell, Kristina Hellberg, Marc Turner, George Talbott, Matthew J Kolar, Debbie S Ross, Gerta Hoxhaj, Alan Saghatelian, Reuben J Shaw, Brendan D Manning
Metformin is the most widely prescribed drug for the treatment of type 2 diabetes. However, knowledge of the full effects of metformin on biochemical pathways and processes in its primary target tissue, the liver, is limited. One established effect of metformin is to decrease cellular energy levels. The AMP-activated protein kinase (AMPK) and mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) are key regulators of metabolism that are respectively activated and inhibited in acute response to cellular energy depletion...
December 30, 2016: Cell Metabolism
https://www.readbyqxmd.com/read/28087349/combination-of-multiple-ligation-dependent-probe-amplification-and-illumina-miseq-amplicon-sequencing-for-tsc1-tsc2-gene-analyses-in-patients-with-tuberous-sclerosis-complex
#5
Nur Farrah Dila Ismail, Abdul Qawee Rani, Nik Mohd Ariff Nik Abdul Malik, Chia Boon Hock, Siti Nabilahuda Mohd Azlan, Salmi Abdul Razak, Wee Teik Keng, Lock Hock Ngu, Abdul Rashid Silawati, Nor AzniYahya, Narazah Mohd Yusoff, Teguh Haryo Sasongko, Zabidi Azhar Mohd Hussin
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotspots, and common type of mutations, mutation detection in TSC1 and TSC2 genes has been challenging. We devised a combination of multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS) to simplify the detection strategy, yet we come up with reasonably high detection rate...
January 10, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28079897/tsc1-expression-by-dendritic-cells-is-required-to-preserve-t-cell-homeostasis-and-response
#6
Yuechen Luo, Wenwen Li, Gang Yu, Juan Yu, Ling Han, Ting Xue, Zhina Sun, Song Chen, Chunming Fang, Chunxiao Zhao, Qing Niu, Fei Yang, Zhongchao Han, Tao Cheng, Yun Zeng, Fang Liao, Guogang Xu, Xiaoming Feng
Dendritic cells (DCs) are pivotal to the induction of adaptive T-cell immune responses. Recent evidence highlights a critical role of tuberous sclerosis complex 1 (Tsc1), a primarily upstream negative regulator of mammalian target of rapamycin (mTOR), in DC development, but whether and how Tsc1 directly regulate mature DC function in vivo remains elusive. Here we show that selective disruption of Tsc1 in DCs results in a lymphoproliferative disorder with the spontaneous activation of T cells. Tsc1 deficiency results in the activation of mTORC1-PPARγ pathway, which leads to the upregulation of neuropilin-1 (Nrp1) expression on DCs to stimulate naive T-cell proliferation...
January 12, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28074282/unique-findings-of-subependymal-giant-cell-astrocytoma-within-cortical-tubers-in-patients-with-tuberous-sclerosis-complex-a-histopathological-evaluation
#7
Joel S Katz, Hyman Frankel, Tracy Ma, David Zagzag, Benjamin Liechty, Bruria Ben Zeev, Michal Tzadok, Orrin Devinsky, Howard L Weiner, Jonathan Roth
INTRODUCTION: Tuberous sclerosis is associated with three central nervous system pathologies: cortical/subcortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). Tubers are associated with epilepsy, which is often medication-resistant and often leads to resective surgery. Recently, mammalian target of rapamycin inhibitors (mTORi) have been shown to be effective reducing seizure burden in some patients with tuberous sclerosis complex (TSC)-related refractory epilepsy...
January 10, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28065512/assessment-of-tuberous-sclerosis-complex-associated-with-renal-lesions-by-targeted-next-generation-sequencing-in-mainland-china
#8
Yi Cai, Hanzhong Li, Yushi Zhang
OBJECTIVE: To identify the TSC1 and TSC2 mutations in patients with tuberous sclerosis complex (TSC) associated with renal lesions, and to explore the relationship between genotypes and phenotypes. MATERIALS AND METHODS: We analyzed 43 individuals affected with TSC accompanied by renal lesions using next-generation sequencing (NGS). We also performed Sanger sequencing to validate the NGS results. RESULTS: We reported a comprehensive mutation analysis of 43 affected individuals with TSC accompanied by renal lesions using NGS...
January 5, 2017: Urology
https://www.readbyqxmd.com/read/28061838/cryptotanshinone-activates-ampk-tsc2-axis-leading-to-inhibition-of-mtorc1-signaling-in-cancer-cells
#9
Wenxing Chen, Yanhong Pan, Siliang Wang, Yuping Liu, Guangying Chen, Liang Zhou, Wenting Ni, Aiyun Wang, Yin Lu
BACKGROUND: Cryptotanshinone (CPT), a fat-soluble phenanthraquinone from Salvia miltiorrhiza Bunge, has been demonstrated to inhibit phosphorylation of p70 S6 kinase 1 (S6K1) and eukaryotic initiation factor 4E binding protein 1 (4E-BP1), a couple of direct downstream effectors of the mammalian target of rapamycin complex 1 (mTORC1), resulting in cancer cell arrested in G0 phase and subsequent inhibition of proliferation. However, its concrete molecular mechanism about how CPT inhibits mTORC1 signaling pathway is unclear...
January 7, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#10
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28053551/genetics-of-tuberous-sclerosis-complex-implications-for-clinical-practice
#11
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/28043938/mtorc1-activation-downregulates-fgfr3-and-pth-pthrp-receptor-in-articular-chondrocytes-to-initiate-osteoarthritis
#12
H Zhang, H Wang, C Zeng, B Yan, J Ouyang, X Liu, Q Sun, C Zhao, H Fang, J Pan, D Xie, J Yang, T Zhang, X Bai, D Cai
OBJECTIVE: Articular chondrocyte activation, involving aberrant proliferation and prehypertrophic differentiation, is essential for osteoarthritis (OA) initiation and progression. Disruption of mechanistic target of rapamycin complex 1 (mTORC1) promotes chondrocyte autophagy and survival, and decreases the severity of experimental OA. However, the role of cartilage mTORC1 activation in OA initiation is unknown. In this study, we elucidated the specific role of mTORC1 activation in OA initiation, and identify the underlying mechanisms...
December 31, 2016: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/28013293/deficient-tsc1-tsc2-complex-suppression-of-sox9-osteopontin-akt-signalling-cascade-constrains-tumour-growth-in-tuberous-sclerosis-complex
#13
Fuquan Jin, Keguo Jiang, Shuang Ji, Li Wang, Zhaofei Ni, Fuqiang Huang, Chunjia Li, Rongrong Chen, Hongbing Zhang, Zhongdong Hu, Xiaojun Zha
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder featured with multi-organ benign tumours. Disruption of TSC1/TSC2 complex suppression on mammalian/mechanistic target of rapamycin (mTOR) signalling causes TSC. Hyperactive mTOR-mediated negative feedback regulation of AKT partially contributes to the benign nature of TSC-associated tumours. In this study, we demonstrated that osteopontin (OPN) was dramatically reduced by loss of TSC1/TSC2 complex in Tsc2-null mouse embryonic fibroblasts (MEFs), rat uterine leiomyoma-derived Tsc2-deficient cells, genetically modified mouse TSC models, and clinical samples...
December 23, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28007324/renal-angiomyolipomas-at-least-two-diseases-a-series-of-patients-treated-at-two-european-institutions
#14
J-B Delhorme, A Fontana, A Levy, P Terrier, M Fiore, D Tzanis, D Callegaro, C Dratwa, A Gronchi, S Bonvalot
OBJECTIVE: The aim of this study is to analyze the outcome of renal angiomyolipomas (AML) at two European institutions. METHODS: The data were collected from patients with a primary AML who were treated at Gustave Roussy, Villejuif, France and Fondazione IRCCS Istituto Nazionale dei Tumori in Milan, Italy from 1998 to 2014. The specimens were classified as classic AML (C AML) or epithelioid AML (E AML) based on the percentage of epithelioid cells. RESULTS: There were 40 patients identified for the study (35 C AML, 5 E AML)...
December 5, 2016: European Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28004629/manifestations-of-tuberous-sclerosis-complex-the-experience-of-a-provincial-clinic
#15
Colin Wilbur, Chinnuwat Sanguansermsri, Hedi Chable, Mihaela Anghelina, Sharon Peinhof, Kelly Anderson, Paul Steinbok, Ash Singhal, Anita Datta, Mary B Connolly
BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population. METHODS: A retrospective, systematic chart review was performed of children with TSC managed at British Columbia Children's Hospital...
January 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28003905/coexistence-of-autism-spectrum-disorders-among-three-children-with-tuberous-sclerosis-complex-case-reports-and-review-of-literature
#16
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/27998195/healthcare-utilization-and-costs-in-patients-with-tuberous-sclerosis-complex-related-renal-angiomyolipoma
#17
Xue Song, Zhimei Liu, Katherine Cappell, Christopher Gregory, Qayyim Said, Judith Prestifilippo, Hearns Charles, John Hulbert, John Bissler
OBJECTIVE: To quantify healthcare utilization and costs in patients with tuberous sclerosis complex (TSC) and renal angiomyolipoma in a matched cohort of patients without TSC or angiomyolipoma. METHODS: Administrative data from the MarketScan® Research Databases were used to select patients with TSC and renal angiomyolipoma during 1/1/2000-3/31/2013 from the Commercial database and 1/1/2000-6/30/2012 from the Medicaid database. Patients were required to have at least 30 days of follow-up from initiation into the study, and were followed until inpatient death, end of insurance coverage, or the end of study...
December 20, 2016: Journal of Medical Economics
https://www.readbyqxmd.com/read/27994429/odontogenic-myxofibroma-of-gingiva-in-a-pediatric-patient-with-tuberous-sclerosis-a-rare-case-report
#18
Nidhi Bhoyar, Sunita Gupta, Sujoy Ghosh
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease, with an estimated incidence of 1 in 6000-1 in 10,000. TSC is an autosomal dominant syndrome involving heart, kidneys, lungs, and skin. The classic triad of TSC is seizures, mental retardation, and angiofibromas; this triad occurs in only 29% of patients. The clinical diagnostic guidelines on TSC are prepared based on clinical features, radiographic findings. The most common oral manifestations of TSC are fibroma, gingival hyperplasia, and enamel hypoplasia...
October 2016: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/27989601/epileptic-spasms-175-years-on-trying-to-teach-an-old-dog-new-tricks
#19
Jo M Wilmshurst, Roland C Ibekwe, Finbar J K O'Callaghan
PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review. RESULTS: Infantile spasms, first described by Dr West in 1841, has undergone extensive investigation to understand the pathogenesis, aetiologies, optimal intervention and most likely prognosis for the affected child. The terminology has recently evolved such that the preferred term for the condition is now "epileptic spasms" in recognition of the fact that cases can present outside infancy...
December 6, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27988923/progressive-multifocal-micronodular-pneumocyte-hyperplasia-in-the-lungs-of-a-patient-with-tuberous-sclerosis-complex-a-case-report
#20
Tetsuya Urano, Naoki Hayama, Jun Tanaka, Yukihiro Horio, Masako Sato, Shigeaki Hattori, Genki Takahashi, Fuminari Takahashi, Tomoe Takeuchi, Kazuki Harada, Hiroto Takiguchi, Hiromi Tomomatsu, Katsuyoshi Tomomatsu, Takahisa Takihara, Kyoko Niimi, Tsuyoshi Oguma, Takuya Aoki, Go Ogura, Naoya Nakamura, Koichiro Asano
We report a case of multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis complex, in whom the lung nodules increased in the number and size over the course of 8 years. We diagnosed MMPH following a lung biopsy performed during video-assisted thoracic surgery. In most of the previously reported cases, the number and size of lung nodules is unchanged during the clinical course. Our case is the first report of progressive disease in pathologically proven MMPH.
December 20, 2016: Tokai Journal of Experimental and Clinical Medicine
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