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https://www.readbyqxmd.com/read/28819397/iron-chelators-and-exogenic-photosensitizers-synergy-through-oxidative-stress-gene-expression
#1
Anna Mrozek-Wilczkiewicz, Katarzyna Malarz, Marzena Rams-Baron, Maciej Serda, Daniela Bauer, Franz-Peter Montforts, Alicja Ratuszna, Thomas Burley, Jaroslaw Polanski, Robert Musiol
In non-invasive anticancer photodynamic therapy (PDT), a nontoxic photosensitizer (PS), which is activated by visible light, is used as a magic bullet that selectively destroys cancer cells. Recently, we described the combined therapy of 5-aminolevulinic acid (ALA-PDT) with thiosemicarbazone (TSC), i.e. an iron-chelating agent. This resulted in a strong synergistic effect. Herein, we investigated a novel strategy using a combination of PDT consist of the xenobiotic-porphyrin type PS with TSC. We observed a synergistic effect for all of the pairs of TSC-PS...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28816269/-microrna-differential-expression-profile-in-tuberous-sclerosis-complex-cell-line-tsc2-mefs-and-normal-cell-line-tsc2-mefs
#2
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
#3
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
#4
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
#5
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/28792087/evaluation-and-management-of-tethered-cord-syndrome-in-occult-spinal-dysraphism-recommendations-from-the-international-children-s-continence-society
#6
REVIEW
Gerald F Tuite, Dominic N P Thompson, Paul F Austin, Stuart B Bauer
AIMS: As awareness and frequency of tethered spinal cord (TSC) related to occult spinal dysraphism (OSD) has increased with magnetic resonance imaging (MRI), variability exists in its evaluation and management. Due to no published level I data, we summarize the current International Children's Continence Society (ICCS) recommendations for diagnosis and treatment of OSD. METHODS: Guidelines were formulated based on analysis of pertinent literature and consensus among authors...
August 9, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28777148/new-mechanisms-of-mtor-pathway-activation-in-kit-mutant-malignant-gists
#7
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/28773802/doping-effect-of-graphene-nanoplatelets-on-electrical-insulation-properties-of-polyethylene-from-macroscopic-to-molecular-scale
#8
Ziang Jing, Changming Li, Hong Zhao, Guiling Zhang, Baozhong Han
The doping effect of graphene nanoplatelets (GNPs) on electrical insulation properties of polyethylene (PE) was studied by combining experimental and theoretical methods. The electric conduction properties and trap characteristics were tested for pure PE and PE/GNPs composites by using a direct measurement method and a thermal stimulated current (TSC) method. It was found that doping smaller GNPs is more beneficial to decrease the conductivity of PE/GNPs. The PE/GNPs composite with smaller size GNPs mainly introduces deep energy traps, while with increasing GNPs size, besides deep energy traps, shallow energy traps are also introduced...
August 10, 2016: Materials
https://www.readbyqxmd.com/read/28772448/experimental-study-on-influence-of-trap-parameters-on-dielectric-characteristics-of-nano-modified-insulation-pressboard
#9
Qingguo Chen, Heqian Liu, Minghe Chi, Yonghong Wang, Xinlao Wei
In order to study the influence of trap parameters on dielectric characteristics of nano-modified pressboards, pressboards were made using the nano doping method with different nanoparticle components. The dielectric characteristics of the modified pressboards were measured, and the trap parameters were investigated using the thermally stimulated current (TSC) method. The test results indicated that the conductivity initially declined and then rose with the increase of nano-Al₂O₃ content, whereas it solely rose with the increase of nano-SiC content...
January 22, 2017: Materials
https://www.readbyqxmd.com/read/28771801/tuberous-sclerosis-complex-in-29-children-clinical-and-genetic-analysis-and-facial-angiofibroma-responses-to-topical-sirolimus
#10
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/28769050/persistent-current-in-2d-topological-superconductors
#11
Igor N Karnaukhov
A junction between two boundaries of a topological superconductor (TSC), mediated by localized edge modes of Majorana fermions, is investigated. The tunneling of fermions across the junction depends on the magnetic flux. It breaks the time-reversal symmetry at the boundary of the sample. The persistent current is determined by the emergence of Majorana edge modes. The structure of the edge modes depends on the magnitude of the tunneling amplitude across the junction. It is shown that there are two different regimes, which correspond to strong and weak tunneling of Majorana fermions, distinctive in the persistent current behavior...
August 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28762286/childhood-onset-epileptic-encephalopathy-associated-with-isolated-focal-cortical-dysplasia-and-a-novel-tsc1-germline-mutation
#12
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/28754907/mapping-the-chromatin-landscape-and-blimp1-transcriptional-targets-that-regulate-trophoblast-differentiation
#13
Andrew C Nelson, Arne W Mould, Elizabeth K Bikoff, Elizabeth J Robertson
Trophoblast stem cells (TSCs) give rise to specialized cell types within the placenta. However, the regulatory mechanisms that guide trophoblast cell fate decisions during placenta development remain ill defined. Here we exploited ATAC-seq and transcriptional profiling strategies to describe dynamic changes in gene expression and chromatin accessibility during TSC differentiation. We detect significantly increased chromatin accessibility at key genes upregulated as TSCs exit from the stem cell state. However, downregulated gene expression is not simply due to the loss of chromatin accessibility in proximal regions...
July 28, 2017: Scientific Reports
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
#14
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
#15
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/28733877/expanding-the-spectrum-of-colonic-manifestations-in-tuberous-sclerosis-l-cell-neuroendocrine-tumor-arising-in-the-background-of-rectal-pecoma
#16
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
https://www.readbyqxmd.com/read/28725501/functional-outcomes-of-24-hour-thumb-immobilization-in-healthy-volunteers-prospective-comparative-study
#17
Raghuveer C Muppavarapu, Lyubov Tsytsikova, Michael B Gottschalk, Poonam P Dalwadi, Charles Cassidy
Background  Immobilization is often needed for the treatment of wrist and hand injuries. The current best method of immobilization for several types of injuries has yet to be elucidated with little being reported on the functional differences of each type of immobilization. Purpose  The purpose of this study is to compare the functional outcome between healthy young volunteers with a 24-hour short arm cast (SAC) versus thumb spica cast (TSC) immobilization. Methods  A total of 50 healthy volunteers completed a baseline typing assessment and a Patient-Reported Outcomes Measurement Information System (PROMIS) upper extremity functional scoring assessment...
August 2017: Journal of Wrist Surgery
https://www.readbyqxmd.com/read/28724072/genome-wide-analysis-of-tar-spot-complex-resistance-in-maize-using-genotyping-by-sequencing-snps-and-whole-genome-prediction
#18
Shiliang Cao, Alexander Loladze, Yibing Yuan, Yongsheng Wu, Ao Zhang, Jiafa Chen, Gordon Huestis, Jingsheng Cao, Vijay Chaikam, Michael Olsen, Boddupalli M Prasanna, Felix San Vicente, Xuecai Zhang
Tar spot complex (TSC) is one of the most destructive foliar diseases of maize ( L.) in tropical and subtropical areas of Central and South America, causing significant grain yield losses when weather conditions are conducive. To dissect the genetic architecture of TSC resistance in maize, association mapping, in conjunction with linkage mapping, was conducted on an association-mapping panel and three biparental doubled-haploid (DH) populations using genotyping-by-sequencing (GBS) single-nucleotide polymorphisms (SNPs)...
July 2017: Plant Genome
https://www.readbyqxmd.com/read/28721058/clinical-patterns-and-outcomes-of-status-epilepticus-in-patients-with-tuberous-sclerosis-complex
#19
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/28714744/marathon-pace-control-in-masters-athletes
#20
Derek Breen, Michelle Norris, Robin Healy, Ross Anderson
PURPOSE: Pacing strategies are key to overall performance outcome in distance running events. Presently, no literature has examined pacing strategies utilised by masters athletes, of all running levels, during a competitive marathon. Therefore, this study aimed to examine masters athletes' pacing strategies, categorised by gender, age and performance level. METHODS: Data were retrieved from the 2015 TSC New York City Marathon for 31,762 masters athletes (20,019 men and 11,743 women)...
July 17, 2017: International Journal of Sports Physiology and Performance
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