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https://www.readbyqxmd.com/read/29787852/evaluating-the-construct-validity-of-a-pulsatile-fresh-frozen-human-cadaver-circulation-model-for-endovascular-training
#1
Craig Nesbitt, Samuel James Tingle, Robin Williams, James McCaslin, Roger Searle, Sebastian Mafeld, Gerard Stansby
OBJECTIVES: We recently described a pulsatile fresh frozen human cadaver model (PHCM) for training endovascular practitioners. This current study aims to assess the construct validity of PHCM; its ability to differentiate between participants of varying expertise. METHODS: 23 participants with varying endovascular experience (12 novice, 4 intermediate, 7 expert) were recruited. Each attempted catheterisation of the left renal artery on PHCM within 10 minutes under exam conditions...
May 19, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29784808/hamartin-regulates-cessation-of-mouse-nephrogenesis-independently-of-mtor
#2
Oded Volovelsky, Thi Nguyen, Alison E Jarmas, Alexander N Combes, Sean B Wilson, Melissa H Little, David P Witte, Eric W Brunskill, Raphael Kopan
Nephrogenesis concludes by the 36th week of gestation in humans and by the third day of postnatal life in mice. Extending the nephrogenic period may reduce the onset of adult renal and cardiovascular disease associated with low nephron numbers. We conditionally deleted either Mtor or Tsc1 (coding for hamartin, an inhibitor of Mtor) in renal progenitor cells. Loss of one Mtor allele caused a reduction in nephron numbers; complete deletion led to severe paucity of glomeruli in the kidney resulting in early death after birth...
May 21, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29774133/sporadic-renal-angiomyolipoma-in-a-patient-with-birt-hogg-dub%C3%A3-chaperones-in-pathogenesis
#3
Rebecca A Sager, Mark R Woodford, Oleg Shapiro, Mehdi Mollapour, Gennady Bratslavsky
Birt-Hogg-Dubé (BHD) is an autosomal dominant genetic syndrome caused by germline mutations in the FLCN gene that predisposes patients to develop renal tumors. Renal angiomyolipoma (AML) is not a renal tumor sub-type associated with BHD. AML is, however, a common phenotypic manifestation of Tuberous Sclerosis Complex (TSC) syndrome caused by mutations in either the TSC1 or TSC2 tumor suppressor genes. Previous case reports of renal AML in patients with BHD have speculated on the molecular and clinical overlap of these two syndromes as a result of described involvement of the gene products in the mTOR pathway...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29772672/mtor-signaling-and-neural-stem-cells-the-tuberous-sclerosis-complex-model
#4
REVIEW
Alice Polchi, Alessandro Magini, Danila Di Meo, Brunella Tancini, Carla Emiliani
The mechanistic target of rapamycin (mTOR), a serine-threonine kinase, plays a pivotal role in regulating cell growth and proliferation. Notably, a great deal of evidence indicates that mTOR signaling is also crucial in controlling proliferation and differentiation of several stem cell compartments. Consequently, dysregulation of the mTOR pathway is often associated with a variety of disease, such as cancer and metabolic and genetic disorders. For instance, hyperactivation of mTORC1 in neural stem cells (NSCs) is associated with the insurgence of neurological manifestation characterizing tuberous sclerosis complex (TSC)...
May 16, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29740858/novel-mutations-in-chinese-han-patients-with-tuberous-sclerosis-complex-case-series-and-review-of-the-published-work
#5
Li-Yun Zheng, Yu-Wei Lee, Yang Han, Li-Li Tang, Yu-Yan Cheng, Jin-Fa Dou, Fu-Sheng Zhou, Xiao-Dong Zheng, Hong-Yan Wang, Pei-Guang Wang, Min Gao
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. This study was performed in one familial and two sporadic cases with TSC. Two novel mutations (c.1884_1887delAAAG and c.5266A>G) and two previously reported mutations (c.4258_4261delTCAG and c.1960G>C) were identified by direct DNA sequencing. Of the four mutations, c.1884_1887delAAAG and c.1960G>C were found in a family and identified in the same allele by TA cloning sequencing...
May 9, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29721430/triboelectric-based-transparent-secret-code
#6
Zuqing Yuan, Xinyu Du, Nianwu Li, Yingying Yin, Ran Cao, Xiuling Zhang, Shuyu Zhao, Huidan Niu, Tao Jiang, Weihua Xu, Zhong Lin Wang, Congju Li
Private and security information for personal identification requires an encrypted tool to extend communication channels between human and machine through a convenient and secure method. Here, a triboelectric-based transparent secret code (TSC) that enables self-powered sensing and information identification simultaneously in a rapid process method is reported. The transparent and hydrophobic TSC can be conformed to any cambered surface due to its high flexibility, which extends the application scenarios greatly...
April 2018: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://www.readbyqxmd.com/read/29713715/combining-autophagy-inducing-peptides-and-brefeldin-a-delivered-by-perinuclear-localized-mesoporous-silica-nanoparticles-a-manipulation-strategy-for-er-phagy
#7
Yimin Wang, Zhao Zhao, Fujing Wei, Zewei Luo, Yixiang Duan
Autophagic degradation of the endoplasmic reticulum (ER-phagy) has been found to play a critical role in human sensory neuropathy. So far, however, specific and efficient intervention means for ER-phagy remain unexplored. Herein, brefeldin A (BFA), a blocking agent on protein transport between the ER and Golgi, was screened from ER stress inducers. BFA was then delivered to the perinuclear area co-localized with the ER by a mesoporous silica nanoparticle-based drug-carrier functionalized with autophagy-inducing peptides of TAT-beclin 1 (MSNs-BFA), to evoke a perturbation of ER-phagy...
May 1, 2018: Nanoscale
https://www.readbyqxmd.com/read/29712777/palladin-is-a-neuron-specific-translational-target-of-mtor-signaling-that-regulates-axon-morphogenesis
#8
Yusuke Umegaki, Antonio Martinéz Brotons, Yui Nakanishi, Zhongyue Luo, Hanlu Zhang, Azad Bonni, Yoshiho Ikeuchi
The mTOR signaling pathway regulates protein synthesis and diverse aspects of neuronal morphology that are important for brain development and function. To identify proteins controlled translationally by mTOR signaling, we performed ribosome profiling analyses in mouse cortical neurons and embryonic stem cells upon acute mTOR inhibition. Among proteins whose translation was significantly affected by mTOR inhibition selectively in neurons, we identified the cytoskeletal regulator protein Palladin, which is localized within the cell body and axons in hippocampal neurons...
April 30, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29701176/consequences-of-delay-in-screening-monitoring-and-treatment-of-angiomyolipoma-and-tuberous-sclerosis-a-case-report
#9
Tanjala T Gipson
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disorder that results in tumor growth in various organs. TSC can affect the kidneys in the form of renal angiomyolipomas and cysts that can lead to chronic kidney disease. CASE PRESENTATION: A 38-year-old woman was referred to Kennedy Krieger Institute for comprehensive TSC management. Before referral, the patient had gone most of her life without a definite diagnosis of TSC despite visually-prominent signs such as forehead plaques, facial angiofibromas, and ungual fibromas...
April 27, 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29697822/renal-angiomyolipoma-in-patients-with-tuberous-sclerosis-complex-findings-from-the-tuberous-sclerosis-registry-to-increase-disease-awareness
#10
J Chris Kingswood, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D' Amato, Guillaume Beaure d'Augères, Petrus J de Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
Background: Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications. Despite this frequency and severity, there are no large population-based cohort studies. Here we present baseline and follow-up data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with an aim to provide detailed clinical characteristics of renal angiomyolipoma among patients with TSC...
April 25, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29687739/vigabatrin-for-epileptic-spasms-and-tonic-seizures-in-tuberous-sclerosis-complex
#11
Emma A van der Poest Clement, Mustafa Sahin, Jurriaan M Peters
Vigabatrin is recommended as first-line treatment for infantile spasms in tuberous sclerosis complex (TSC), but other indications in children with tuberous sclerosis complex are less known. We retrospectively reviewed 201 children with tuberous sclerosis complex, and identified 21 children older than 1 year started on vigabatrin for any indication and with sufficient follow-up data. The indication for vigabatrin was epileptic spasms (n = 13), tonic seizures (n = 5), both (n = 2), and status epilepticus (n = 1)...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29687738/ganglioglioma-epilepsy-and-intellectual-impairment-due-to-familial-tsc1-deletion
#12
Tal Gilboa, Reeval Segel, Sharon Zeligson, Gheona Alterescu, Hilla Ben-Pazi
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disorder diagnosed by clinical criteria and/or genetic testing. Genetic testing reveals atypical phenotypes that have not met clinical criteria, with practical implications. METHODS: We describe 4 family members with pathogenic partial deletion in TSC1 who individually did not meet tuberous sclerosis complex clinical criteria. RESULTS: Family members had different and atypical findings of tuberous sclerosis complex...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29686177/bilateral-giant-renal-angiomyolipoma-in-a-patient-with-tuberous-sclerosis-complex-a-case-report
#13
Andika Afriansyah, Abdul M Yusuf, Harry Nusaly
Tuberous sclerosis complex (TSC) has several renal manifestations including angiomyolipomas (AML) and renal epithelial neoplasms. A bilateral giant renal AML is extremely rare. We report a case of giant bilateral AML and discuss the diagnosis and treatment of it. The 22-year-old man was admitted due to bilateral flank pain, gross hematuria, and abdominal fullness. He had history of epilepsy, mental retardation, and delayed development during childhood. He had angiofibroma on his face since 10 years ago. Abdominal CT and MRI revealed large lobulated heterogeneous mass with fatty content...
January 2018: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/29684949/-a-case-of-bilateral-angiomyolipoma-accompanied-by-tuberous-sclerosis-complex-successfully-treated-with-transcatheter-arterial-embolization-using-functional-kidney-mapping-images-consisting-of-spect-ct-and-contrast-enhanced-ct-images
#14
Gaku Yamamichi, Toyofumi Abe, Yu Ishizuya, Kazutoshi Fujita, Motohide Uemura, Hiroshi Kiuchi, Ryoichi Imamura, Yasushi Miyagawa, Yusuke Ono, Hiroki Higashihara, Keigo Osuga, Norio Nonomura
Renal angiomyolipoma (AML) and aneurysm are common in tuberous sclerosis complex (TSC) and represent the main causes of morbidity in adults with TSC. Herein, we report a 22-year-old woman with TSC-associated AMLs and renal aneurysms. She was referred to our hospital for the treatment of multiple renal aneurysms larger than 5 mm in diameter. The previous hospital considered that transcatheter arterial embolization (TAE) of bilateral renal aneurysms would cause deterioration of renal function. To estimate the impact of TAE on renal function, we superimposed contrast enhanced computed tomography (CT) over single-photon emission CT (SPECT)-CT...
February 2018: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/29682330/yes-associated-protein-yap-in-pancreatic-cancer-at-the-epicenter-of-a-targetable-signaling-network-associated-with-patient-survival
#15
Enrique Rozengurt, James Sinnett-Smith, Guido Eibl
Pancreatic ductal adenocarcinoma (PDAC) is generally a fatal disease with no efficacious treatment modalities. Elucidation of signaling mechanisms that will lead to the identification of novel targets for therapy and chemoprevention is urgently needed. Here, we review the role of Yes-associated protein (YAP) and WW-domain-containing Transcriptional co-Activator with a PDZ-binding motif (TAZ) in the development of PDAC. These oncogenic proteins are at the center of a signaling network that involves multiple upstream signals and downstream YAP-regulated genes...
2018: Signal Transduction and Targeted Therapy
https://www.readbyqxmd.com/read/29673547/visual-and-semi-automatic-non-invasive-detection-of-interictal-fast-ripples-a-potential-biomarker-of-epilepsy-in-children-with-tuberous-sclerosis-complex
#16
Danilo Bernardo, Hiroki Nariai, Shaun A Hussain, Raman Sankar, Noriko Salamon, Darcy A Krueger, Mustafa Sahin, Hope Northrup, E Martina Bebin, Joyce Y Wu
OBJECTIVES: We aim to establish that interictal fast ripples (FR; 250-500 Hz) are detectable on scalp EEG, and to investigate their association to epilepsy. METHODS: Scalp EEG recordings of a subset of children with tuberous sclerosis complex (TSC)-associated epilepsy from two large multicenter observational TSC studies were analyzed and compared to control children without epilepsy or any other brain-based diagnoses. FR were identified both by human visual review and compared with semi-automated review utilizing a deep learning-based FR detector...
April 3, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29669930/tsc2-deficient-tumors-have-evidence-of-t-cell-exhaustion-and-respond-to-anti-pd-1-anti-ctla-4-immunotherapy
#17
Heng-Jia Liu, Patrick H Lizotte, Heng Du, Maria C Speranza, Hilaire C Lam, Spencer Vaughan, Nicola Alesi, Kwok-Kin Wong, Gordon J Freeman, Arlene H Sharpe, Elizabeth P Henske
Tuberous sclerosis complex (TSC) is an incurable multisystem disease characterized by mTORC1-hyperactive tumors. TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer. Whether TSC-associated tumors will respond to immunotherapy is unknown. We report here that the programmed death 1 coinhibitory receptor (PD-1) is upregulated on T cells in renal angiomyolipomas (AML) and pulmonary lymphangioleiomyomatosis (LAM). In C57BL/6J mice injected with syngeneic TSC2-deficient cells, anti-PD-1 alone decreased 105K tumor growth by 67% (P < 0...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29668487/are-sporadic-eosinophilic-solid-and-cystic-renal-cell-carcinomas-characterized-by-somatic-tuberous-sclerosis-gene-mutations
#18
Megan Parilla, Sabah Kadri, Sushant A Patil, Lauren Ritterhouse, Jeremy Segal, Kammi J Henriksen, Tatjana Antic
Eosinophilic solid and cystic renal cell carcinomas (ESC RCC) is a rare, unique tumor type not yet included in the World Health Organization classification of renal neoplasia. Separately, RCCs found in patients with tuberous sclerosis complex (TSC) have recently been categorized into 3 morphologic groups: RCC with a tubulopapillary architecture separated by smooth muscle stroma, chromophobe-like, and eosinophilic-microcytic type. The third classification has been identified in ∼11% of TSC-associated RCC and have histology identical to ESC RCCs...
April 17, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29666741/a-novel-mutation-in-tsc2-gene-a-34-year-old-female-with-pulmonary-lymphangioleiomyomatosis-with-concomitant-hepatic-lesions
#19
Mehdi Nadiri, Mortaza Raeisi, Seyed Ali Mousavi Aghdas
Tuberous sclerosis complex (TSC) is an autosomal dominant disease resulting from mutation(s) in TSC1 or TSC2 genes. TSC is associated with the formation of hamartomas in the brain, heart, eyes, skin, kidneys, and lymphangioleiomyomatosis (LAM) of the lungs. LAM is almost restricted to women in reproductive age. Different mutations in TSC1 and TSC2 genes have been reported in the literature. Here, we present a female patient with TSC-LAM with a novel mutation in TSC2 gene. The patient also had multiple hepatic angiomyolipomas, which is a relatively less-reported manifestation of the disease...
2018: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/29659200/atypical-tuberous-sclerosis-complex-presenting-as-familial-renal-cell-carcinoma-with-leiomyomatous-stroma
#20
Ismaël Bah, Somayyeh Fahiminiya, Louis R Bégin, Nancy Hamel, Maria Daniela D'Agostino, Simon Tanguay, William D Foulkes
We report an atypical tuberous sclerosis complex phenotype presenting as familial multiple renal cell carcinomas with (angio)leiomyomatous stroma (5/7 familial renal cell carcinomas) on a background of multiple angiomyolipomas, hypopigmented skin macules and absence of neurological anomalies. In the index case and 3 relatives, germline genetic testing identified a heterozygous TSC2 missense pathogenic variant [c.2714 G>A, (p.Arg905Gln)], a rare TSC-associated alteration which has previously been associated with a milder TSC phenotype...
April 16, 2018: Journal of Pathology. Clinical Research
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