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tuberous sclerosis

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https://www.readbyqxmd.com/read/28816269/-microrna-differential-expression-profile-in-tuberous-sclerosis-complex-cell-line-tsc2-mefs-and-normal-cell-line-tsc2-mefs
#1
Y Cai, H Guo, H Z Li, W D Wang, Y S Zhang
OBJECTIVE: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by mutations in the TSC1 and TSC2 genes, but the molecular events contributing to TSC are not well understood. However, little is known about the role of microRNAs in TSC. To explore the microRNA differential expression profile between tuberous sclerosis complex cell line TSC2(-/-) MEFs and normal type cell line TSC2(+/+) MEFs, and to provide new clues to study the mechanism of microRNA function in tuberous sclerosis complex...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#2
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28808237/coding-and-small-non-coding-transcriptional-landscape-of-tuberous-sclerosis-complex-cortical-tubers-implications-for-pathophysiology-and-treatment
#3
James D Mills, Anand M Iyer, Jackelien van Scheppingen, Anika Bongaarts, Jasper J Anink, Bart Janssen, Till S Zimmer, Wim G Spliet, Peter C van Rijen, Floor E Jansen, Martha Feucht, Johannes A Hainfellner, Pavel Krsek, Josef Zamecnik, Katarzyna Kotulska, Sergiusz Jozwiak, Anna Jansen, Lieven Lagae, Paolo Curatolo, David J Kwiatkowski, R Jeroen Pasterkamp, Ketharini Senthilkumar, Lars von Oerthel, Marco F Hoekman, Jan A Gorter, Peter B Crino, Angelika Mühlebner, Brendon P Scicluna, Eleonora Aronica
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a mutation in the TSC1 or TSC2 genes leading to constitutive activation of the mechanistic target of rapamycin complex 1 (mTORC1). TSC is associated with autism, intellectual disability and severe epilepsy. Cortical tubers are believed to represent the neuropathological substrates of these disabling manifestations in TSC. In the presented study we used high-throughput RNA sequencing in combination with systems-based computational approaches to investigate the complexity of the TSC molecular network...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801991/early-autism-symptoms-in-infants-with-tuberous-sclerosis-complex
#4
Nicole M McDonald, Kandice J Varcin, Rujuta Bhatt, Joyce Y Wu, Mustafa Sahin, Charles A Nelson, Shafali S Jeste
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50-60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n = 13) differed from TSC/no ASD infants (n = 10) and infants with low developmental risk and no ASD (LR; n = 21) in their social communication functioning during the first year of life...
August 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28799516/antiepileptic-drugs-in-clinical-development-differentiate-or-die
#5
Gaetano Zaccara, D Schmidt
BACKGROUND: Animal models when carefully selected, designed and conducted, are important parts of any translational drug development strategy. However, research of new compounds for patients with drug-resistant epilepsies is still based on animal experiments, mostly in rodents, which are far from being a model of chronic human epilepsy and have failed to differentiate the efficacy of new compounds versus standard drug treatment. Objective The objective was identification and description of compounds in clinical development in 2016...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28799129/the-missing-falx-a-potential-surgical-pitfall-during-interhemispheric-transcallosal-approach
#6
Sunil Kumar Gupta, Ashish Aggarwal
One of the standard surgical approaches to lateral ventricular tumors involves interhemispheric dissection along the falx cerebri. The falx cerebri thus provides an important landmark in guiding the surgeon to the midline. Unrecognized absence of falx may lead to surgical complications. A child with tuberous sclerosis presented with refractory epilepsy and a lateral ventricular tumor. The tumor was excised by an interhemispheric trans-callosal approach. The midline falx cerebri was absent anteriorly, rendering the identification of midline difficult...
August 10, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28792952/everolimus-long-term-use-in-patients-with-tuberous-sclerosis-complex-four-year-update-of-the-exist-2-study
#7
John J Bissler, J Chris Kingswood, Elzbieta Radzikowska, Bernard A Zonnenberg, Elena Belousova, Michael D Frost, Matthias Sauter, Susanne Brakemeier, Petrus J de Vries, Noah Berkowitz, Maurizio Voi, Severine Peyrard, Klemens Budde
OBJECTIVES: We examined the long-term effects of everolimus in patients with renal angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis. METHODS: Following favorable results from the double-blind core phase of EXIST-2 (NCT00790400), patients were allowed to receive open-label everolimus (extension phase). Patients initially randomly assigned to everolimus continued on the same dose; those who were receiving placebo crossed over to everolimus 10 mg/day...
2017: PloS One
https://www.readbyqxmd.com/read/28791852/cardiac-tumors-in-children-a-20-year-review-of-clinical-presentation-diagnostics-and-treatment
#8
Joanna Kwiatkowska, Anna Wałdoch, Jarosław Meyer-Szary, Piotr Potaż, Marek Grzybiak
BACKGROUND: The use of new imaging techniques has contributed significantly to earlier diagnosis and treatment of cardiac tumors. OBJECTIVES: The aim of the study was to analyze data from children with cardiac tumors in terms of clinical presentation, the role of noninvasive diagnostic procedures and the long-term outcome. MATERIAL AND METHODS: The data analyzed retrospectively concerned 30 children in whom cardiac tumors were diagnosed from January 1995 to July 2015...
March 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28790792/tuberous-sclerosis-inside-and-outside
#9
Manoj Gopinath, Deepak Vashisht, G S Madan
No abstract text is available yet for this article.
July 2017: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/28780710/regression-of-neonatal-cardiac-rhabdomyoma-in-two%C3%A2-months-through-low-dose-everolimus-therapy-a-report-of-three-cases
#10
Jeng-Sheng Chang, Ping-Yun Chiou, Shu-Hui Yao, I-Ching Chou, Ching-Yuang Lin
Cardiac rhabdomyoma (CR) is the most common cardiac tumor in newborns. Approximately 75% of cases are associated with tuberous sclerosis complex. Although these tumors usually spontaneously regress after 2 years of age, they can be life-threatening when they obstruct major cardiac inflow or outflow pathways. Everolimus is an inhibitor of the mammalian target of rapamycin, reducing its production of the proteins harmartin and tuberin. Everolimus has demonstrated a remarkable suppression effect in children with tuberous sclerosis complex at doses of 4...
August 5, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28777148/new-mechanisms-of-mtor-pathway-activation-in-kit-mutant-malignant-gists
#11
Jerzy Lasota, Artur Kowalik, Anna Felisiak-Golabek, Sebastian Zięba, Zeng-Feng Wang, Markku Miettinen
A great majority of gastrointestinal stromal tumors (GISTs) are primarily driven by gain-of-function KIT receptor tyrosine kinase mutations that subsequently lead to activation of phosphatidiylinositol 3-kinase (PI3K)/mammalian target of rapamycin (mTOR) pathway, a downstream effector of KIT signaling. KIT tyrosine kinase inhibitor, imatinib mesylate, has been successfully used for the treatment of primary, advanced, and disseminated GISTs. Recently, activation of mTOR pathway independent of KIT signaling was demonstrated in imatinib mesylate naïve malignant GISTs and treatment-resistant metastatic tumors...
August 2, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28771801/tuberous-sclerosis-complex-in-29-children-clinical-and-genetic-analysis-and-facial-angiofibroma-responses-to-topical-sirolimus
#12
Senfen Wang, Yuanxiang Liu, Jinghai Wei, Jian Zhang, Zhaoyang Wang, Zigang Xu
BACKGROUND/OBJECTIVES: Tuberous sclerosis complex (TSC) is a genetic disorder and facial angiofibromas are disfiguring facial lesions. The aim of this study was to analyze the clinical and genetic features of TSC and to assess the treatment of facial angiofibromas using topical sirolimus in Chinese children. METHODS: Information was collected on 29 patients with TSC. Genetic analyses were performed in 12 children and their parents. Children were treated with 0.1% sirolimus ointment for 36 weeks...
August 2, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28763796/the-metabolic-regulator-mtorc1-controls-terminal-myeloid-differentiation
#13
Pui Y Lee, David B Sykes, Sarah Ameri, Demetrios Kalaitzidis, Julia F Charles, Nathan Nelson-Maney, Kevin Wei, Pierre Cunin, Allyn Morris, Astrid E Cardona, David E Root, David T Scadden, Peter A Nigrovic
Monocytes are derived from hematopoietic stem cells through a series of intermediate progenitor stages, but the factors that regulate this process are incompletely defined. Using a Ccr2/Cx3cr1 dual-reporter system to model murine monocyte ontogeny, we conducted a small-molecule screen that identified an essential role of mechanistic target of rapamycin complex 1 (mTORC1) in the development of monocytes and other myeloid cells. Confirmatory studies using mice with inducible deletion of the mTORC1 component Raptor demonstrated absence of mature circulating monocytes, as well as disruption in neutrophil and dendritic cell development, reflecting arrest of terminal differentiation at the granulocyte-monocyte progenitor stage...
May 26, 2017: Science Immunology
https://www.readbyqxmd.com/read/28762286/childhood-onset-epileptic-encephalopathy-associated-with-isolated-focal-cortical-dysplasia-and-a-novel-tsc1-germline-mutation
#14
Hannes Hoelz, Eva Coppenrath, Konstanze Hoertnagel, Timo Roser, Moritz Tacke, Lucia Gerstl, Ingo Borggraefe
Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity with an amplitude higher than 300 µV and multiregional spikes/polyspikes/sharp waves) and developmental regression. In this study, we report on a previously healthy patient with positive family history of epilepsy with new-onset epileptic encephalopathy at the age of 9 years...
March 1, 2017: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/28759667/early-life-epilepsies-and-the-emerging-role-of-genetic-testing
#15
Anne T Berg, Jason Coryell, Russell P Saneto, Zachary M Grinspan, John J Alexander, Mariana Kekis, Joseph E Sullivan, Elaine C Wirrell, Renée A Shellhaas, John R Mytinger, William D Gaillard, Eric H Kossoff, Ignacio Valencia, Kelly G Knupp, Courtney Wusthoff, Cynthia Keator, William B Dobyns, Nicole Ryan, Tobias Loddenkemper, Catherine J Chu, Edward J Novotny, Sookyong Koh
Importance: Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established. Objective: To provide a contemporary account of the patterns of use and diagnostic yield of genetic testing for early-life epilepsies. Design, Setting, and Participants: In this prospective cohort, children with newly diagnosed epilepsy with an onset at less than 3 years of age were recruited from March 1, 2012, to April 30, 2015, from 17 US pediatric hospitals and followed up for 1 year...
July 31, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28754097/lymphangioleiomyomatosis-multifocal-micronodular-pneumocyte-hyperplasia-and-sarcoidosis-more-pathological-findings-in-the-same-chest-ct-or-a-single-pathological-pathway
#16
Fabiano Di Marco, Giuseppina Palumbo, Silvia Terraneo, Gianluca Imeri, Elena Lesma, Nicola Sverzellati, Angela Peron, Lorenzo Gualandri, Maria Paola Canevini, Stefano Centanni
BACKGROUND: Autoimmune hepatitis/primary biliary cirrhosis overlap syndrome, lymphangioleiomyomatosis/tuberous sclerosis complex (LAM-TSC), and sarcoidosis are three rare diseases. Here we present, to the best of our knowledge, the first description of a patient with the coexistence of these three diseases. CASE PRESENTATION: A 47-year-old woman affected by LAM-TSC and primary biliary cirrosis/autoimmune hepatitis overlap syndrome. During her follow up a high resolution chest CT scan (HRTC) confirmed the presence of both multiple cysts and micronodular opacities consistent with multifocal micronodular pneumocytes hyperlasia (MMPH), and revealed multiple hilar-mediastinal symmetrical lymphadenopathies suggestive of sarcoidosis...
July 28, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28746872/aberrant-proteostasis-of-bmal1%C3%A2-underlies-circadian-abnormalities-in-a-paradigmatic-mtor-opathy
#17
Jonathan O Lipton, Lara M Boyle, Elizabeth D Yuan, Kevin J Hochstrasser, Fortunate F Chifamba, Ashwin Nathan, Peter T Tsai, Fred Davis, Mustafa Sahin
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by mutations in either the TSC1 or TSC2 genes, whose products form a critical inhibitor of the mechanistic target of rapamycin (mTOR). Loss of TSC1/2 gene function renders an mTOR-overactivated state. Clinically, TSC manifests with epilepsy, intellectual disability, autism, and sleep dysfunction. Here, we report that mouse models of TSC have abnormal circadian rhythms. We show that mTOR regulates the proteostasis of the core clock protein BMAL1, affecting its translation, degradation, and subcellular localization...
July 25, 2017: Cell Reports
https://www.readbyqxmd.com/read/28742108/fasting-metabolism-modulates-the-interleukin-12-interleukin-10-cytokine-axis
#18
Johannes J Kovarik, Elisabeth Kernbauer, Markus A Hölzl, Johannes Hofer, Guido A Gualdoni, Klaus G Schmetterer, Fitore Miftari, Yury Sobanov, Anastasia Meshcheryakova, Diana Mechtcheriakova, Nadine Witzeneder, Georg Greiner, Anna Ohradanova-Repic, Petra Waidhofer-Söllner, Marcus D Säemann, Thomas Decker, Gerhard J Zlabinger
A crucial role of cell metabolism in immune cell differentiation and function has been recently established. Growing evidence indicates that metabolic processes impact both, innate and adaptive immunity. Since a down-stream integrator of metabolic alterations, mammalian target of rapamycin (mTOR), is responsible for controlling the balance between pro-inflammatory interleukin (IL)-12 and anti-inflammatory IL-10, we investigated the effect of upstream interference using metabolic modulators on the production of pro- and anti-inflammatory cytokines...
2017: PloS One
https://www.readbyqxmd.com/read/28737457/-importance-of-gross-deletions-in-the-diagnosis-of-tuberous-sclerosis-complex-the-first-hungarian-cases
#19
Erzsébet Kövesdi, Judit Bene, Nikoletta Nagy, Ágnes Horváth, Béla Melegh, Kinga Hadzsiev
Tuberous sclerosis complex is a rare disease with high phenotypic heterogeneity, characterized by the appearance of multiplex hamartomas in the different organs. The disease is inherited by autosomal dominant manner, due to the mutations of two genes: the TSC1 or the TSC2. In this publication we present the cases of two young male and two middle-aged female patients, where pathogenetic differences of TSC1/TSC2 could not be verified by Sanger sequencing. However, multiplex ligation-dependent probe amplification confirmed different sizes of deletions in different regions of the TSC2 gene...
July 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28733877/expanding-the-spectrum-of-colonic-manifestations-in-tuberous-sclerosis-l-cell-neuroendocrine-tumor-arising-in-the-background-of-rectal-pecoma
#20
David L Kolin, Kai Duan, Bo Ngan, J Ted Gerstle, Monika K Krzyzanowska, Gino R Somers, Ozgur Mete
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous condition that predisposes to numerous proliferative lesions, including perivascular epithelioid cell tumors (PEComas), such as lymphangioleiomyomatosis (LAM) and angiomyolipomas, and rare neuroendocrine neoplasms. We describe herein a TSC2-harboring tuberous sclerosis patient manifesting with a synchronous well-differentiated L-cell rectal neuroendocrine tumor and leiomyomatosis-like LAM of the rectum. The background large bowel wall was thickened by confluent nodular areas comprising vessels and spindle-to-epithelioid cells, which are immunoreactive for myoid (smooth muscle actin, muscle specific actin, and desmin) and melanocytic markers (HMB45, Melan-A, microphthalmia transcription factor, and CD117)...
July 21, 2017: Endocrine Pathology
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