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Tuberous Sclerosis Complex

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https://www.readbyqxmd.com/read/29344236/alterations-in-expression-levels-of-genes-in-p53-related-pathways-determined-using-rna-seq-analysis-in-patients-with-breast-cancer-following-cik-therapy
#1
Zuowei Hu, Xiaoye Zhang, Hang Yang, Shuanglai Qin, Yaqi Liu, Wei Xiong, Bing Yuan, Liping Li, Weiqi Yao, Dongcheng Wu
The present study aimed at investigating the underlying molecular mechanisms for patients following cytokine-induced killer (CIK) therapy, particularly involving the alterations in p53-associated signaling pathways, to elucidate whether CIK therapy serves a function in cancer treatment. Samples of blood were collected from patients with breast cancer prior to and following CIK therapy. Two group samples were used for RNA sequencing (RNA-Seq) to determine the alterations in gene expression levels following CIK therapy and one for the quantitative polymerase chain reaction (qPCR), to analyze the reliability of RNA-Seq results...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29344140/familial-genetic-tuberous-sclerosis-complex-associated-with-bilateral-giant-renal-angiomyolipoma-a-case-report
#2
Lina Wang, Dawei Ni, Lin Zhong, Jianbo Wang
Tuberous sclerosis complex (TSC) is an autosomal dominant disease involving multiple organs, but there are a limited number of reports on family TSC. In the present report, a case of a 52-year-old female with a familial genetic TSC, associated with bilateral giant renal angiomyolipoma, was described. The mother, second elder brother and daughter of the patient all exhibited TSC, but the clinical manifestations, and therapeutic prognosis between the family members were not the same. The present case report aimed at identifying an effective diagnostic method and treatment through additional study of familial genetic TSC, in order to prolong and improve the quality of life for patients with TSC...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29344138/clinical-and-genetic-analysis-of-tuberous-sclerosis-complex-associated-renal-angiomyolipoma-in-chinese-pedigrees
#3
Shuqiang Li, Yushi Zhang, Jinxing Wei, Xuepei Zhang
Tuberous sclerosis complex-associated renal angiomyolipoma (TSC-RAML) confers a high risk of bleeding and even mortality. However, data on TSC-RAML in Chinese pedigrees is extremely lacking. The present study aimed to investigate its clinical and genetic characteristics by obtaining a detailed medical history from 6 probands and their family members, and reassessing blood tests, computed tomography and renal dynamic imaging examinations that were conducted in the TSC-RAML patients. The TSC1/TSC2 mutation was detected in 2 families...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29343816/sclerotic-bone-lesions-as-a-potential-imaging-biomarker-for-the-diagnosis-of-tuberous-sclerosis-complex
#4
Susanne Brakemeier, Lars Vogt, Lisa C Adams, Bianca Zukunft, Gerd Diederichs, Bernd Hamm, Klemens Budde, Kai-Uwe Eckardt, Marcus R Makowski
Tuberous-sclerosis-complex (TSC) is associated with a high lifetime risk of severe complications. Clinical manifestations are largely variable and diagnosis is often missed. Sclerotic-bone-lesions (SBL) could represent a potential imaging biomarker for the diagnosis of TSC. In this study, computed tomography (CT) data sets of 49 TSC patients (31 females) were included and compared to an age/sex matched control group. Imaging features of SBLs included frequency, size and location pattern. Sensitivities, specificities and cutoff values for the diagnosis of TSC were established for the skull, thorax, and abdomen/pelvis...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29343513/using-genetic-buffering-relationships-identified-in-fission-yeast-to-reveal-susceptibilities-in-cells-lacking-hamartin-or-tuberin-function
#5
Ashyad Rayhan, Adam Faller, Ryan Chevalier, Alannah Mattice, Jim Karagiannis
Tuberous sclerosis complex is an autosomal dominant disorder characterized by benign tumors arising from the abnormal activation of mTOR signaling in cells lacking TSC1 (hamartin) or TSC2 (tuberin) activity. To expand the genetic framework surrounding this group of growth regulators, we utilized the model eukaryote Schizosaccharomyces pombe to uncover and characterize genes that buffer the phenotypic effects of mutations in the orthologous tsc1 or tsc2 loci. Our study identified two genes: fft3 (encoding a DNA helicase) and ypa1 (encoding a peptidyle-prolyl cis/trans isomerase)...
January 17, 2018: Biology Open
https://www.readbyqxmd.com/read/29340326/mtorc1-inhibition-is-an-effective-treatment-for-sporadic-renal-angiomyolipoma
#6
Oren Pleniceanu, Dorit Omer, Einat Azaria, Orit Harari-Steinberg, Benjamin Dekel
Introduction: Renal angiomyolipoma (AML) is the most common benign renal tumor. Despite a generally benign histology, AML can result in significant morbidity, from intra-abdominal hemorrhage and reduction in kidney function. While classically associated with the autosomal dominant disorder tuberous sclerosis complex (TSC) or with pulmonary lymphangioleiomyomatosis, most AMLs are sporadic. Mammalian target of rapamycin complex 1 (mTORC1) inhibitors (e.g., sirolimus) have been found to be effective in treating TSC- or lymphangioleiomyomatosis-associated AML, but to date it is unknown whether this strategy is effective for sporadic AML...
January 2018: KI Reports
https://www.readbyqxmd.com/read/29339522/effect-of-beta-agonists-on-lam-progression-and-treatment
#7
Kang Le, Wendy K Steagall, Mario Stylianou, Gustavo Pacheco-Rodriguez, Thomas N Darling, Martha Vaughan, Joel Moss
Lymphangioleiomyomatosis (LAM), a rare disease of women, is associated with cystic lung destruction resulting from the proliferation of abnormal smooth muscle-like LAM cells with mutations in the tuberous sclerosis complex (TSC) genes TSC1 and/or TSC2 The mutant genes and encoded proteins are responsible for activation of the mechanistic target of rapamycin (mTOR), which is inhibited by sirolimus (rapamycin), a drug used to treat LAM. Patients who have LAM may also be treated with bronchodilators for asthma-like symptoms due to LAM...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#8
Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronica
The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of "mTORopathies"...
January 17, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29333579/factors-associated-with-the-number-and-size-of-renal-angiomyolipomas-in-sporadic-angiomyolipoma-saml-a-study-of-adult-patients-with-saml-managed-in-a-dutch-tertiary-referral-center
#9
J L H Ruud Bosch, Francis Vekeman, Mei Sheng Duh, Maureen Neary, Matthew Magestro, Jonathan Fortier, Paul Karner, Raluca Ionescu-Ittu, Bernard A Zonnenberg
PURPOSE: To describe the patient characteristics, treatments, disease monitoring, and kidney function of patients with sporadic angiomyolipoma (sAML), stratified by the number and size of renal angiomyolipomas (AMLs). METHODS: Single-center retrospective analysis of patients with sAML treated from 1990 to 2015 in a dedicated clinic for inheritable tumor syndromes in a tertiary referral center from the Netherlands. Patients' first AML assessment at the clinic was defined as the index date...
January 15, 2018: International Urology and Nephrology
https://www.readbyqxmd.com/read/29325814/corrigendum-to-development-of-hypomelanotic-macules-is-associated-with-constitutive-activated-mtorc1-in-tuberous-sclerosis-complex-mol-genet-metab-120-4-apr-2017-384-391
#10
L B Møller, B Schönewolf-Greulich, T Rosengren, L J Larsen, J R Ostergaard, M Sommerlund, C Ostenfeldt, B Stausbøl-Grøn, K M Linnet, P A Gregersen, U B Jensen
No abstract text is available yet for this article.
January 8, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29324470/fibroma-like-pecoma-a-tuberous-sclerosis-complex-related-lesion
#11
Ana B Larque, Richard L Kradin, Ivan Chebib, G Petur Nielsen, Martin K Selig, Elizabeth A Thiele, Anat Stemmer-Rachamimov, Miriam A Bredella, Pawel Kurzawa, Vikram Deshpande
Perivascular epithelioid cell tumor (PEComa), mesenchymal tumors morphologically characterized by epithelioid cells, coexpress melanocytic and muscle markers. Herein, we describe a heretofore-undescribed tuberous sclerosis complex (TSC)-related neoplasm, morphologically resembling a soft tissue fibroma-like lesion, but showing an immunophenotype resembling PEComa. We identified 3 soft tissue fibroma-like lesions in individuals with TSC. We also evaluated 6 TSC-related periungual fibroma as well as a range of non-TSC fibroma-like lesions (n=19)...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29313307/prenatal-and-postnatal-diagnosis-of-rhabdomyomas-and-tuberous-sclerosis-complex-by-ultrafast-and-standard-mri
#12
Ying Zhou, Su-Zhen Dong, Yu-Min Zhong, Ai-Min Sun
OBJECTIVE: To examine the features of cardiac rhabdomyomas and tuberous sclerosis in fetuses and infants using magnetic resonance imaging (MRI) and to determine whether MRI is an effective tool to facilitate early detection of tuberous sclerosis complex (TSC). METHODS: Fifteen patients with TSC were evaluated by ultrafast or standard MRI between June 2005 and September 2016. Fifteen patients were divided into two groups. Group A included five cases in utero and followed in infancy with gestational ages from 26 + 1 to 38 + 2 wk...
January 9, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29312473/central-nervous-system-gadolinium-accumulation-in-patients-undergoing-periodical-contrast-mri-screening-for-hereditary-tumor-syndromes
#13
Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C Jansen, Vera Van Velthoven, Sven Gläsker
Background: Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous system after repeated administrations. The prevalence and rate of accumulation in different subgroups of patients are unknown. Neither are the mechanism nor clinical impact. This may cause uncertainty about the screening. To explore the prevalence and rate of Gadolinium accumulation in different subgroups, we retrospectively analyzed MRIs of patients with von Hippel-Lindau disease (VHL) and Tuberous Sclerosis Complex (TSC)...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29296616/everolimus-for-treatment-of-tuberous-sclerosis-complex-associated-neuropsychiatric-disorders
#14
Darcy A Krueger, Anjali Sadhwani, Anna W Byars, Petrus J de Vries, David N Franz, Vicky H Whittemore, Rajna Filip-Dhima, Donna Murray, Kush Kapur, Mustafa Sahin
Objective: To evaluate if short-term treatment with everolimus was safe and could improve neurocognition and behavior in children with TSC. Methods: This was a prospective, double-blind randomized, placebo-controlled two-center phase II study. Participants diagnosed with TSC and age 6-21 years were treated with 4.5 mg/m2 per day of oral everolimus (n = 32) or matching placebo (n = 15) taken once daily for 6 months. For efficacy, a comprehensive neurocognitive and behavioral evaluation battery was performed at baseline, 3 months, and 6 months...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29291576/lithium-promotes-the-production-of-reactive-oxygen-species-via-gsk-3%C3%AE-tsc2-tor-signaling-in-the-gill-of-zebrafish-danio-rerio
#15
Dongwu Liu, Lili Gao, Zhuangzhuang Zhang, Shiyi Tao, Qiuxiang Pang, Ao Li, Hongkuan Deng, Hairui Yu
In this study, the mechanism that lithium (Li) promotes the production of reactive oxygen species (ROS) via the glycogen synthase kinase-3β (GSK-3β)/tuberous sclerosis complex 2 (TSC2)/target of rapamycin (TOR) signaling was investigated in the gill of zebrafish (Danio rerio). After the zebrafish were treated by 25 and 50 mg/L Li+, the mRNA expression of GSK-3β and TSC2 was inhibited, but the expression of TOR was induced in the gill of zebrafish. The levels of hydrogen peroxide (H2O2), superoxide anion (O2·-), and hydroxy radical (·OH) as well as the activity of superoxide dismutase (SOD) were increased, while the activities of catalase (CAT), glutathione peroxidase (GSH-PX), and peroxidase (POD) were decreased by 25 and 50 mg/L Li+ treatments...
December 28, 2017: Chemosphere
https://www.readbyqxmd.com/read/29287601/mtor-inhibition-improves-the-immunomodulatory-properties-of-human-bone-marrow-mesenchymal-stem-cells-by-inducing-cox-2-and-pge2
#16
Binsheng Wang, Yu Lin, Yongxian Hu, Wei Shan, Senquan Liu, Yulin Xu, Hao Zhang, Shuyang Cai, Xiaohong Yu, Zhen Cai, He Huang
BACKGROUND: Bone marrow mesenchymal stem cells (MSCs) are promising candidates for the treatment of various inflammatory disorders due to their profound immunomodulatory properties. However, the immunosuppressive capacity of MSCs needs activation by an inflammatory microenvironment, which may negatively impact the therapeutic effect because of increased immunogenicity. Here we explore the role of mammalian target of rapamycin (mTOR) signaling on the immunosuppressive capacity of MSCs, and its impact on immunogenicity in the inflammatory microenvironment...
December 29, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29285181/correlation-between-tsc1-gene-polymorphism-and-epilepsy
#17
Xiuli Jiang, Jiajia Chen, Quanjiang Song, Weiling Wang, Guangyan Zhang, Ye Li
The correlation between tuberous sclerosis complex 1 (TSC1) gene polymorphism and epilepsy was studied. In total, 38 patients with epilepsy treated in People's Hospital of Rizhao from May 2015 to June 2016 were selected as study subjects, as the observation group, 38 healthy people in the same period were selected as the control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to study the polymorphism of TSC1 gene in the above study subjects. The mRNA expression of TSC1 gene in the observation group and the control group was measured by fluorescence quantitative PCR, the expression of TSC1 protein in the control and observation group was measured by western blotting and ELISA...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#18
Shanshan Mao, Qi Long, Huijia Lin, Jinling Liu
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation (TSC2c.1642_1643insA or TSC2p.K549fsX589), in which multiple cardiac rhabdomyomas were detected by fetal echocardiography in week 31 of pregnancy. The infant was delivered successfully; however, seizures began 16 days following birth. Subsequent genetic tests confirmed a diagnosis of TSC. Rapamycin treatment resulted in regression of cardiac rhabdomyomas and controlled seizures...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29277498/retinal-astrocytoma-regression-in-tuberous-sclerosis-patients-treated-with-everolimus
#19
Anat Bachar Zipori, Nasrin Tehrani, Asim Ali
Everolimus is an inhibitor of the mammalian target of rapamycin (mTOR) that has been approved by the US Food and Drug Administration for the treatment of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC). Retinal hamartomas, which are one of the major diagnostic features of TSC, tend to remain stable or gradually progress in the natural history of the disease. We report 2 patients with TSC treated with everolimus for SEGA in whom fundus photographs and spectral domain optical coherence tomography demonstrated regression of previously documented multiple retinal hamartomas in all 4 eyes...
December 19, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29275410/recurrent-giant-renal-angiomyolipoma-treated-with-selective-arterial-embolization-a-case-report
#20
Guven Tidim, Ozgur Kilickesmez, Mehmet Gokhan Culha
Renal angiomyolipoma (AML), a rare benign mesenchymal neoplasm, is characterized by the presence of vessels, smooth muscle, and adipose tissue. Treatment should be considered for symptomatic patients or for those at risk for complications, in particular for retroperitoneal bleeding, which is correlated to the size of the tumor, grade of the angiogenic component, and presence of tuberous sclerosis complex. Herein, we report the case of a 39-year-old female with renal AML who was treated in a conservative approach by super-selective embolization...
December 22, 2017: Urologia Internationalis
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