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https://www.readbyqxmd.com/read/29712777/palladin-is-a-neuron-specific-translational-target-of-mtor-signaling-that-regulates-axon-morphogenesis
#1
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/29687738/ganglioglioma-epilepsy-and-intellectual-impairment-due-to-familial-tsc1-deletion
#2
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/29673547/visual-and-semi-automatic-non-invasive-detection-of-interictal-fast-ripples-a-potential-biomarker-of-epilepsy-in-children-with-tuberous-sclerosis-complex
#3
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/29666741/a-novel-mutation-in-tsc2-gene-a-34-year-old-female-with-pulmonary-lymphangioleiomyomatosis-with-concomitant-hepatic-lesions
#4
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/29587809/assessing-the-outcomes-of-everolimus-on-renal-angiomyolipoma-associated-with-tuberous-sclerosis-complex-in-china-a-two-years-trial
#5
Yi Cai, Hao Guo, Wenda Wang, Hanzhong Li, Hao Sun, Bing Shi, Yushi Zhang
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors. Renal angiomyolipoma (RAML) occur in up to 80% of TSC patients, which is a leading cause of TSC-related death in adult patients. The aim of the study was to evaluate the efficacy and safety profiles of everolimus in Chinese patients of TSC associated with RAML(TSC-RAML). METHODS: In this 2-years, nonrandomized, open-label trial, 18 patients of TSC-RAML, with at least one RAML 3 cm or larger in its longest diameter, were enrolled to assess the efficacy and safety of everolimus therapy in Chinese patients...
March 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29569806/effect-of-everolimus-on-skin-lesions-in-patients-treated-for-subependymal-giant-cell-astrocytoma-and-renal-angiomyolipoma-final-4-year-results-from-the-randomised-exist-1-and-exist-2-studies
#6
D N Franz, K Budde, J C Kingswood, E Belousova, S Sparagana, P J de Vries, N Berkowitz, A Ridolfi, J J Bissler
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder associated with tumour growth in various organs, including the brain, kidneys, heart, and skin. Cutaneous lesions are prevalent manifestations in TSC, occurring in up to 90% of patients. Oral mammalian target of rapamycin inhibitors, such as everolimus, are believed to be effective for treatment of TSC-associated lesions because they act on the underlying disease pathophysiology. OBJECTIVE: We evaluated the long-term effect of oral everolimus on TSC-associated skin lesions as a secondary objective in the phase III studies EXIST-1 (NCT00789828) and EXIST-2 (NCT00790400) after approximately 4 years of treatment...
March 23, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29509898/tsc2-regulates-microrna-biogenesis-via-mtorc1-and-gsk3%C3%AE
#7
Barbara Ogórek, Hilaire C Lam, Damir Khabibullin, Heng-Jia Liu, Julie Nijmeh, Robinson Triboulet, David J Kwiatkowski, Richard I Gregory, Elizabeth P Henske
Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by germline inactivating mutations of TSC1 or TSC2. In TSC-associated tumors of the brain, heart, skin, kidney and lung, inactivation of both alleles of TSC1 or TSC2 leads to hyperactivation of the mTORC1 pathway. The TSC/mTORC1 pathway is a key regulator of cellular processes related to growth, proliferation and autophagy. We and others have previously found that mTORC1 regulates microRNA biogenesis, but the mechanisms are not fully understood...
May 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29500070/screening-for-tsc1-and-tsc2-mutations-using-ngs-in-greek-children-with-tuberous-sclerosis-syndrome
#8
Anna Papadopoulou, Argyrios Dinopoulos, George Koutsodontis, Roser Pons, Pelagia Vorgia, Vasiliki Koute, Athanassios Vratimos, Dimitrios Zafeiriou
Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29478616/tuberous-sclerosis-complex
#9
Daphne M Hasbani, Peter B Crino
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. There are over 2000 known allelic variants for TSC, including nonsense and misssense mutation, and all pathogenic mutations are inactivating, leading to loss-of-function effects on the encoded proteins, TSC1 and TSC2. These proteins form a complex to constitutively inhibit the mammalian target of rapamycin (mTOR) signaling cascade, and as a consequence, mTOR signaling is constitutively active within all TSC-associated lesions...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29459606/clinical-and-neuro-radiological-presentation-of-tuberous-sclerosis-complex-in-tertiary-care-centre
#10
G K Kundu, S Ahmed, S Akhter, M T Islam, T Dwa, A M Sabbir
Tuberous sclerosis complex (TSC) is a common neurocutaneous disorder characterized by hamartomatous changes in the lungs, brain, kidneys, skin, heart, and other organs. This retrospective study was done to see the clinical presentation and neuro imaging pattern of TSC in a tertiary care centre of Bangladesh and was conducted at Pediatric Neurology Unit of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from January 2013 to December 2013. Among total 10 patients male-female ratio was 3:2...
January 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29451453/trapped-ventricle-after-laser-ablation-of-a-subependymal-giant-cell-astrocytoma-complicated-by-intraventricular-gadolinium-extravasation-case-report
#11
Michael Karsy, Daxa M Patel, Robert J Bollo
Magnetic resonance imaging-guided stereotactic laser ablation of intracranial targets, including brain tumors, has expanded dramatically over the past decade, but there have been few reports of complications, especially those occurring in a delayed fashion. Laser ablation of subependymal giant cell astrocytomas (SEGAs) is an attractive alternative to maintenance immunotherapy in some children with tuberous sclerosis complex (TSC); however, the effect of treatment on disease progression and the nature and frequency of potential complications remains largely unknown...
May 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29438841/anti-migraine-and-anti-depression-activities-of-tianshu-capsule-by-mediating-monoamine-oxidase
#12
Xiaoping Sun, Fangfang Zhu, Jun Zhou, Xiujuan Chang, Liang Li, Hanfei Hu, Zhenzhong Wang, Wei Xiao
BACKGROUND: Tianshu capsule(TSC)is a Chinese patent medicine. It's widely used to treat migraine clinically in China. AIM OF THE STUDY: In the present study, we investigated anti-migraine and anti-depression activities of TSC using in vivo animal models together with in vitro studies to investigate the mechanism of action. MATERIALS AND METHODS: Nitroglycerin (NTG) -induced migraine rat model, rat was given a subcutaneous injection of the NTG suspension (10 mg/kg) once a week for 5 weeks...
April 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29389670/tuberous-sclerosis-complex-associated-cns-abnormalities-depend-on-hyperactivation-of-mtorc1-and-akt
#13
Paola Zordan, Manuela Cominelli, Federica Cascino, Elisa Tratta, Pietro L Poliani, Rossella Galli
Tuberous sclerosis complex (TSC) is a dominantly inherited disease caused by hyperactivation of the mTORC1 pathway and characterized by the development of hamartomas and benign tumors, including in the brain. Among the neurological manifestations associated with TSC, the tumor progression of static subependymal nodules (SENs) into subependymal giant cell astrocytomas (SEGAs) is one of the major causes of morbidity and shortened life expectancy. To date, mouse modeling has failed in reproducing these 2 lesions...
April 2, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29378663/early-diagnosis-of-tuberous-sclerosis-complex-a-race-against-time-how-to-make-the-diagnosis-before-seizures
#14
Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of neurological and neuropsychiatric abnormalities, including epilepsy affecting 70-90% of patients and being one of the major risk factors of intellectual disability. The first seizures in TSC patients appear usually between the 4th and the 6th months of life. Recent studies have shown the beneficial role of preventative antiepileptic treatment in TSC patients, with the possibility for improvement of cognitive outcome...
January 29, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29364507/decreased-rates-of-cerebral-protein-synthesis-measured-in-vivo-in-a-mouse-model-of-tuberous-sclerosis-complex-unexpected-consequences-of-reduced-tuberin
#15
Rachel Michelle Saré, Tianjian Huang, Tom Burlin, Inna Loutaev, Carolyn Beebe Smith
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder affecting about 1 in 6000 people and is caused by mutations in either TSC1 or TSC2. This disorder is characterized by increased activity of mammalian target of rapamycin complex 1 (mTORC1), which is involved in regulating ribosomal biogenesis and translation initiation. We measured the effects of Tsc2 haploinsufficiency (Tsc2+/- ) in 3-month-old male mice on regional rates of cerebral protein synthesis (rCPS) by means of the in vivo L-[1-14 C]leucine method...
January 24, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29359340/review-mechanistic-target-of-rapamycin-mtor-pathway-focal-cortical-dysplasia-and-epilepsy
#16
REVIEW
E Marsan, S Baulac
Over the last decade, there has been increasing evidence that hyperactivation of the mechanistic target of rapamycin (mTOR) pathway is a hallmark of malformations of cortical development such as focal cortical dysplasia (FCD) or hemimegalencephaly. The mTOR pathway governs protein and lipid synthesis, cell growth and proliferation as well as metabolism and autophagy. The molecular genetic aetiology of mTOR hyperactivation has only been recently clarified. This article will review the current and still evolving genetic advances in the elucidation of the molecular basis of FCD...
February 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29313307/prenatal-and-postnatal-diagnosis-of-rhabdomyomas-and-tuberous-sclerosis-complex-by-ultrafast-and-standard-mri
#17
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
#18
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/29297180/giant-cardiac-tumors-in-the-newborn-an-unusual-image
#19
Joanna Kwiatkowska, Sebastian Ciemny, Dariusz Kozłowski
Primary heart tumors in the pediatric population are very rare and they range from 0.01% to 0.04%. Most are benign lesions of which about half are rhabdomyomas. Rhabdomyoma tumor diagnosis is associated with a 75-80% risk of TSC. TSC are characterised with numerous changes of hamartoma type located in the brain, kidneys, skin and other organs including in the heart. More than two thirds of newborns with TSC present rhabdomyomas in the heart. These changes may be asymptomatic, but in some cases they may cause heart failure, arrhythmias and death...
January 3, 2018: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#20
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
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