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https://www.readbyqxmd.com/read/28721058/clinical-patterns-and-outcomes-of-status-epilepticus-in-patients-with-tuberous-sclerosis-complex
#1
Hatem S Shehata, Hadeer Mahmoud AbdelGhaffar, Mohammed Nasreldin, Alaa Elmazny, Ahmed Abdelalim, Asmaa Sabbah, Nevin M Shalaby
INTRODUCTION: Refractory epilepsy is a common clinical manifestation in patients with tuberous sclerosis complex (TSC), which can be complicated by many life-threatening conditions, such as status epilepticus (SE). However, very few reports mention the patterns and semiology of SE in those patients. OBJECTIVE: To study the clinical characteristics and outcomes of SE in TSC patients. MATERIALS AND METHODS: This observational, prospective study was carried out on 36 Egyptian children with definite TSC...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28717551/angiomyolipoma-of-the-scrotum-report-of-a-rarely-seen-case-and-review-of-the-literature
#2
Gauhar Sultan, Bilal Masood, Harris Qureshi, Muhammed Mubarak
Angiomyolipoma (AML) is a benign, histologically complex mesenchymal tumor arising mainly from the kidney and liver. The majority (80%) of these tumors arise as sporadic tumors, while 20% of them are associated with tuberous sclerosis. Extra-renal sites of AML, though rare, have been reported in literature. In this report, we describe a case of AML arising from the scrotal skin, and presenting as a scrotal mass. Although skin is the most commonly reported site after kidney and liver, scrotal skin AML presents as an intriguing mass in a region known for germ cell tumors which has been reported only once before...
June 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/28710231/tuberin-regulates-prostaglandin-receptor-mediated-viability-via-rheb-in-mtorc1-hyperactive-cells
#3
Chenggang Li, Xiaolei Liu, Yang Liu, Erik Zhang, Kantha Medepalli, Kohei Masuda, Na Li, Elizabeth J Kopras, David J Kwiatkowski, Michael T Borchers, Kathryn A Wikenheiser-Brokamp, Andrew Osterburg, Maxwell Mays, Yang Sun, David R Plas, Julia L Sun, David N Franz, Jamie K Capal, Anya Alayev, Marina K Holz, Darcy A Krueger, Brian J Siroky, Jane J Yu
Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome affecting multiple organs, including the brain, skin, kidneys, heart, and lungs. TSC is associated with mutations in TSC1 or TSC2 resulting in hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1). Clinical trials demonstrate that mTORC1 inhibitors decrease tumor volume and stabilize lung function in TSC patients; however, mTOR inhibitors are cytostatic not cytocidal, and long-term benefits and toxicities are uncertain. Previously, we identified rapamycin-insensitive upregulation of cyclooxygenase 2 (PTGS2/COX2) and prostaglandin E2 (PGE2) production in TSC2-deficient cells and postulate that the action of excess PGE2 and its cognate receptors (EPs) contribute to cell survival...
July 14, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28706850/pneumothorax-caused-by-cystic-and-nodular-lung-metastases-from-a-malignant-uterine-perivascular-epithelioid-cell-tumor-pecoma
#4
Shouichi Okamoto, Moegi Komura, Yasuhisa Terao, Aiko Kurisaki-Arakawa, Takuo Hayashi, Tsuyoshi Saito, Shinsaku Togo, Akira Shiokawa, Keiko Mitani, Etsuko Kobayashi, Toshio Kumasaka, Kazuhisa Takahashi, Kuniaki Seyama
Perivascular epithelioid cell tumors (PEComas) are mesenchymal neoplasms with immunoreactivity for both melanocytic and smooth muscle markers. PEComas occur at multiple sites, and malignant PEComas can undergo metastasis, recurrence and aggressive clinical courses. Although the lung is a common metastatic site of PEComas, they usually appear as multiple nodules but rarely become cystic or cavitary. Here, we describe a female patient whose lungs manifested multiple cystic, cavity-like and nodular metastases 3 years after the resection of uterine tumors tentatively diagnosed as epithelioid smooth muscle tumors with uncertain malignant potential...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28701918/striatal-transcriptome-and-interactome-analysis-of-shank3-overexpressing-mice-reveals-the-connectivity-between-shank3-and-mtorc1-signaling
#5
Yeunkum Lee, Sun Gyun Kim, Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Eunjoon Kim, Hyojin Kang, Kihoon Han
Mania causes symptoms of hyperactivity, impulsivity, elevated mood, reduced anxiety and decreased need for sleep, which suggests that the dysfunction of the striatum, a critical component of the brain motor and reward system, can be causally associated with mania. However, detailed molecular pathophysiology underlying the striatal dysfunction in mania remains largely unknown. In this study, we aimed to identify the molecular pathways showing alterations in the striatum of SH3 and multiple ankyrin repeat domains 3 (Shank3)-overexpressing transgenic (TG) mice that display manic-like behaviors...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28701517/mesangial-cell-mammalian-target-of-rapamycin-complex-1-activation-results-in-mesangial-expansion
#6
Kojiro Nagai, Tatsuya Tominaga, Sayo Ueda, Eriko Shibata, Masanori Tamaki, Motokazu Matsuura, Seiji Kishi, Taichi Murakami, Tatsumi Moriya, Hideharu Abe, Toshio Doi
Human glomerular diseases can be caused by several different diseases, many of which include mesangial expansion and/or proliferation followed by glomerulosclerosis. However, molecular mechanisms underlying the pathologic mesangial changes remain poorly understood. Here, we investigated the role of the mammalian target of rapamycin complex 1 (mTORC1)-S6 kinase pathway in mesangial expansion and/or proliferation by ablating an upstream negative regulator, tuberous sclerosis complex 1 (TSC1), using tamoxifen-induced Foxd1-Cre mice [Foxd1ER(+) TSC1 mice]...
July 12, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28700179/-clinical-manifestations-and-therapeutic-perspectives-in-tuberous-sclerosis-a-rare-multi-organ-genetic-disease-with-renal-involvement
#7
Giorgia Apollonia Caloro, Marta Spinelli, Nicla Campobasso, Tommaso Esposito, Loreto Gesualdo, Vincenzo Montinaro
Tuberous sclerosis is a rare genetic disease with multiple organ involvement. Renal involvement is manifested by the presence of angiomyolipomas and cysts. Angiomyolipomas due to the progressive increase in size over time can complicate by bleeding that can lead to severe retroperitoneal hemorrhages. Hence, it is important to perform an active surveillance of the masses and to institute therapeutic attempts in order to manage or prevent any complication. We present three clinical cases of three women with various clinical presentations and treated in different ways...
June 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28699893/hyperactivated-mtorc1-downregulation-of-foxo3a-pdgfr%C3%AE-akt-cascade-restrains-tuberous-sclerosis-complex-associated-tumor-development
#8
Li Wang, Zhaofei Ni, Yujie Liu, Shuang Ji, Fuquan Jin, Keguo Jiang, Junfang Ma, Cuiping Ren, Hongbing Zhang, Zhongdong Hu, Xiaojun Zha
Hyperactivation of mammalian target of rapamycin complex 1 (mTORC1), caused by loss-of-function mutations in either the TSC1 or TSC2 gene, leads to the development of tuberous sclerosis complex (TSC), a benign tumor syndrome with multiple affected organs. mTORC1-mediated inhibition of AKT constrains the tumor progression of TSC, but the exact mechanisms remain unclear. Herein we showed that loss of TSC1 or TSC2 downregulation of platelet-derived growth factor receptor α (PDGFRα) expression was mediated by mTORC1...
July 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28695825/tsc2-disruption-in-mesenchymal-progenitors-results-in-tumors-with-vascular-anomalies-overexpressing-lgals3
#9
Peter J Klover, Rajesh L Thangapazham, Jiro Kato, Ji-An Wang, Stasia A Anderson, Victoria Hoffmann, Wendy K Steagall, Shaowei Li, Elizabeth McCart, Neera Nathan, Joshua D Bernstock, Matthew D Wilkerson, Clifton L Dalgard, Joel Moss, Thomas N Darling
Increased mTORC1 signaling from TSC1/TSC2 inactivation is found in cancer and causes tuberous sclerosis complex (TSC). The role of mesenchymal-derived cells in TSC tumorigenesis was investigated through disruption of Tsc2 in craniofacial and limb bud mesenchymal progenitors. Tsc2cKO(Prrx1-cre) mice had shortened lifespans and extensive hamartomas containing abnormal tortuous, dilated vessels prominent in the forelimbs. Abnormalities were blocked by the mTORC1 inhibitor sirolimus. A Tsc2/mTORC1 expression signature identified in Tsc2-deficient fibroblasts was also increased in bladder cancers with TSC1/TSC2 mutations in the TCGA database...
July 11, 2017: ELife
https://www.readbyqxmd.com/read/28694334/loss-of-tuberous-sclerosis-complex1-in-adult-oligodendrocyte-progenitor-cells-enhances-axon-remyelination-and-increases-myelin-thickness-after-a-focal-demyelination
#10
Lauren E McLane, Jennifer N Bourne, Angelina V Evangelou, Luipa Khandker, Wendy B Macklin, Teresa L Wood
While the mammalian target of rapamycin (mTOR) is an essential regulator of developmental oligodendrocyte differentiation and myelination, oligodendrocyte-specific deletion of tuberous sclerosis complex (TSC), a major upstream inhibitor of mTOR, surprisingly also leads to hypomyelination during CNS development. However, the function of TSC has not been studied in the context of remyelination. Here, we utilized the inducible Cre-lox system to study the function of TSC in the remyelination of a focal, lysolecithin demyelinated lesion in adult male mice...
July 10, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28693223/distinct-subcellular-localization-of-e-cadherin-between-epithelioid-angiomyolipoma-and-triphasic-angiomyolipoma-a-preliminary-case-control-study
#11
Xin-Gang Bi, Lei Guo, Xiao-Liang Wang, Qian Wei, Qiang Du, Wen-Hao Jiang, Guang-Yuan Zheng, Hong-Tu Zhang, Jian-Hui Ma, Shan Zheng
Epithelioid angiomyolipoma (EAML) is a rare variant of angiomyolipoma (AML). Previous studies have demonstrated that epithelial (E-)cadherin is expressed in two subtypes of AML, EAML and triphasic AML; however, the expression pattern of E-cadherin remains unclear. In the present study, a preliminary case-control study was conducted to determine the expression pattern of E-cadherin between EAML and triphasic AML, the control, focusing on the subcellular localization and expression category of E-cadherin. No significant difference was identified in the age, sex, history of tuberous sclerosis, smoking and alcohol consumption between the two groups (P>0...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28690858/topical-rapamycin-for-facial-angiofibromas-in-tuberous-sclerosis-complex
#12
Gilles Safa
Facial angiofibromas are a common cutaneous manifestation of tuberous sclerosis complex. Although angiofibromas are usually asymptomatic, they can be highly disfiguring and can have a significant impact on patient quality of life. Treatment for facial angiofibromas is challenging. Recently, topical rapamycin has been proposed as an effective option to treat angiofibromas. Herein is reported a case of a 27-year-old woman whose facial angiofibromas were successfully treated with topical rapamycin without relevant side effects...
July 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28684945/epilepsy-surgery-in-tuberous-sclerosis-complex-in-pursuit-of-the-epileptogenic-center-s
#13
COMMENT
Ajay Gupta
No abstract text is available yet for this article.
May 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/28684424/il-4-upregulates-cyclooxygenase-1-expression-in-macrophages
#14
Ashley E Shay, Bastihalli T Diwakar, Bo-Jhih Guan, Vivek Narayan, Joseph F Urban, K Sandeep Prabhu
Macrophages use various cell-surface receptors to sense their environment and undergo polarized responses. The cytokines IL-4 and IL-13, released from T-helper type 2 (Th2) cells, drive macrophage polarization toward an alternatively activated phenotype (M2). This phenotype is associated with the expression of potent pro-resolving mediators, such as the prostaglandin (PG) D2-derived cyclopentenone metabolite, 15d-PGJ2, produced by the cyclooxygenase (Ptgs; Cox) pathway. Interestingly, IL-4 treatment of bone marrow-derived macrophages significantly downregulates Cox-2 protein expression, while Cox-1 levels are significantly increased...
July 6, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28680002/chromophobe-renal-cell-carcinoma-like-thyroid-carcinoma-a-novel-clinicopathologic-entity-possibly-associated-with-tuberous-sclerosis-complex
#15
Mitsuyoshi Hirokawa, Akira Miyauchi, Minoru Kihara, Takumi Kudo, Yuko Hashimoto, Shinichi Suzuki, Tsutomu Daa, Huy Gia Vuong, Norisato Mitsutake
We report three cases of chromophobe renal cell carcinoma-like thyroid carcinoma as a novel clinicopathologic entity possibly associated with tuberous sclerosis complex. A 15-year-old female, a 19-year-old male, and a 21-year-old male presented with primary thyroid carcinoma. Two of the patients had associated tuberous sclerosis complex. Macroscopically, the carcinomas showed invasive growth. Histologically, the carcinoma cells showed a trabecular pattern with thin vascular stroma, and were characterized by abundant eosinophilic cytoplasm with perinuclear clearing, a prominent cell border, a wrinkled nuclear membrane, and binucleation, which are all features of chromophobe renal cell carcinoma...
July 6, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28675562/innate-and-adaptive-immunity-in-human-epilepsies
#16
Jan Bauer, Albert J Becker, Wassim Elyaman, Jukka Peltola, Stephan Rüegg, Maarten J Titulaer, James A Varley, Ettore Beghi
Inflammatory mechanisms have been increasingly implicated in the origin of seizures and epilepsy. These mechanisms are involved in the genesis of encephalitides in which seizures are a common complaint. Experimental and clinical evidence suggests different inflammatory responses in the brains of patients with epilepsy depending on the etiology. In general, activation of both innate and adaptive immunity plays a role in refractory forms of epilepsy. Epilepsies in which seizures develop after infiltration of cells of the adaptive immune system in the central nervous system (CNS) include a broad range of epileptic disorders with different (known or unknown) etiologies...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28675556/prospective-clinical-trials-to-investigate-clinical-and-molecular-biomarkers
#17
Stéphane Auvin, Lauren Walker, William Gallentine, Sergiusz Jozwiak, Mario Tombini, Graeme J Sills
Among clinical studies, randomized studies as well as well-designed observational studies are providing the highest quality data. In addition, these studies represent a good opportunity to examine biomarkers of ictogenesis and epileptogenesis. To date, no validated molecular or cellular biomarker exists for any aspect of epilepsy. We provide an overview of the inflammatory biomarkers under investigation in prospective clinical studies in epilepsy: proinflammatory cytokines in prolonged febrile seizure; High Mobility Group Box 1 (HMGB1) as a prognosis biomarker in epilepsy and the interaction between inflammation and metabolism, in particular, iron metabolism, in epilepsy...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28671794/-pulmonary-lymphangioleimyomatosis-review-and-case-report
#18
Sophie Excoffier, Olivier Guinand, Thierry Rochat
Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease, occurring in women of childbearing age, that can occur sporadically (S-LAM) or can be associated with tuberous sclerosis complex (TSC-LAM), an inherited neurocutaneous disorder. This article is illustrated by a case report. We then review clinical manifestations, diagnostic tools, and treatment of this disease. LAM should be considered in young women who present with dyspnea on exertion and/or spontaneous pneumothorax, with typical cystic lesions on high-resolution chest CT...
August 24, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28667702/tuberous-sclerosis-complex-recent-advances-in-manifestations-and-therapy
#19
REVIEW
Mari Wataya-Kaneda, Motohide Uemura, Kazutoshi Fujita, Haruhiko Hirata, Keigo Osuga, Kuriko Kagitani-Shimono, Norio Nonomura
Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were elucidated in the 2000s. Hamartin-Tuberin complex is involved in the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin signal transduction pathway, and suppresses mammalian target of rapamycin complex 1 activity, which is a center for various functions...
July 1, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28663780/new-insights-into-the-pathogenesis-and-prevention-of-tuberous-sclerosis-associated-neuropsychiatric-disorders-tand
#20
REVIEW
Tanjala T Gipson, Michael V Johnston
Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intellectual disability (45%), and behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties that are collectively referred to as TSC-associated neuropsychiatric disorders (TAND). More than 90% of children with TSC have epilepsy, including infantile spasms, and early onset of seizures, especially infantile spasms, is associated with greater impairment in intellectual development compared with individuals with TSC without seizures...
2017: F1000Research
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