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tuberous sclerosis

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https://www.readbyqxmd.com/read/29150030/-retinal-phacomas-in-tuberous-sclerosis-in-a-18-year-old-patient
#1
E Barrenechea, C Deschasse, F Baudin, A M Bron, C Creuzot Garcher
No abstract text is available yet for this article.
November 14, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29146131/dysregulation-of-autophagy-in-melanocytes-contributes-to-hypopigmented-macules-in-tuberous-sclerosis-complex
#2
Fei Yang, Lingli Yang, Mari Wataya-Kaneda, Junya Hasegawa, Tamotsu Yoshimori, Atsushi Tanemura, Daisuke Tsuruta, Ichiro Katayama
BACKGROUND: Tuberous sclerosis complex (TSC) gene mutations lead to constitutive activation of the mammalian target of rapamycin (mTOR) pathway, resulting in a broad range of symptoms. Hypopigmented macules are the earliest sign. Although we have already confirmed that topical rapamycin treatment (an mTOR inhibitor) protects patients with TSC against macular hypopigmentation, the pathogenesis of such lesions remains poorly understood. OBJECTIVE: Recently emerging evidence supports a role for autophagy in skin pigmentation...
November 11, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29144225/prevalence-of-genetic-disorders-and-glut1-deficiency-in-a-ketogenic-diet-clinic
#3
Stacy Hewson, Ledia Brunga, Matilde Fernandez Ojeda, Elizabeth Imhof, Jaina Patel, Maria Zak, Elizabeth J Donner, Jeff Kobayashi, Gajja S Salomons, Saadet Mercimek-Andrews
Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and SCN1A-, SCN8A-, and STXBP1-associated epileptic encephalopathies...
November 16, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29143563/mammalian-target-of-rapamycin-complex-2-mtorc2-controls-glycolytic-gene-expression-by-regulating-histone-h3-lysine-56-acetylation
#4
Raghavendra Vadla, Devyani Haldar
Metabolic reprogramming is a hallmark of cancer cells, but the mechanisms are not well understood. The mammalian target of rapamycin complex 2 (mTORC2) controls cell growth and proliferation and plays a critical role in metabolic reprogramming in glioma. mTORC2 regulates cellular processes such as cell survival, metabolism, and proliferation by phosphorylation of AGC kinases. Components of mTORC2 are shown to localize to the nucleus, but whether mTORC2 modulates epigenetic modifications to regulate gene expression is not known...
November 16, 2017: Cell Cycle
https://www.readbyqxmd.com/read/29129521/diffusion-tensor-imaging-and-magnetic-resonance-spectroscopy-in-a-patient-with-adult-onset-tuberous-sclerosis-complex
#5
Hidehiro Ishikawa, Atsushi Niwa, Masaru Asahi, Keita Matsuura, Satoshi Masuzugawa, Yo Niida, Masayuki Maeda, Mineo Kondo, Hidekazu Tomimoto
Tuberous sclerosis complex (TSC) 1 or TSC2 is mutated in most TSC patients. TSC2 mutations are more frequently associated with worse outcomes, earlier age at seizure onset, more severe intellectual disability, and higher tuber load than TSC1. The degree of white matter involvement is thought to be associated with the severity of neurological impairment. At present, genotype-phenotype correlations and relationship between tuber burden and neurological disability in TSC are debatable. We presented a 43-year-old patient with TSC2 mutation, whose symptom was only incomplete quadrantic visual field deficit in spite of multiple brain tubers...
November 9, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29129154/predictors-of-drug-resistant-epilepsy-in-tuberous-sclerosis-complex
#6
Anna Jeong, Jo Anne Nakagawa, Michael Wong
Utilizing the multicenter TSC (tuberous sclerosis complex) Natural History Database including 2034 subjects, this study aimed to identify predictors of drug-resistant epilepsy in TSC. Basic epilepsy data were available for 1965 individuals in the database. Supplemental data were further collected from 1546 of these subjects through directed site queries, addressing additional epilepsy characteristics including the presence of drug-resistant epilepsy, therapies trialed, and outcomes of specific therapies. Epilepsy was reported in 86...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29128117/cardiac-rhabdomyomas-in-tuberous-sclerosis-complex
#7
Javier Castro-Monsalve, Jorge L Alvarado-Socarras, Karen A Mantilla, Laura Forero, Andres Moreno, Carlos E Prada
No abstract text is available yet for this article.
November 8, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29127155/tumor-suppressor-tsc1-is-a-new-hsp90-co-chaperone-that-facilitates-folding-of-kinase-and-non-kinase-clients
#8
Mark R Woodford, Rebecca A Sager, Elijah Marris, Diana M Dunn, Adam R Blanden, Ryan L Murphy, Nicholas Rensing, Oleg Shapiro, Barry Panaretou, Chrisostomos Prodromou, Stewart N Loh, David H Gutmann, Dimitra Bourboulia, Gennady Bratslavsky, Michael Wong, Mehdi Mollapour
The tumor suppressors Tsc1 and Tsc2 form the tuberous sclerosis complex (TSC), a regulator of mTOR activity. Tsc1 stabilizes Tsc2; however, the precise mechanism involved remains elusive. The molecular chaperone heat-shock protein 90 (Hsp90) is an essential component of the cellular homeostatic machinery in eukaryotes. Here, we show that Tsc1 is a new co-chaperone for Hsp90 that inhibits its ATPase activity. The C-terminal domain of Tsc1 (998-1,164 aa) forms a homodimer and binds to both protomers of the Hsp90 middle domain...
November 10, 2017: EMBO Journal
https://www.readbyqxmd.com/read/29121252/tuberous-sclerosis-complex
#9
M Singla, S Janjirala
No abstract text is available yet for this article.
November 7, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29120812/imaging-findings-in-systemic-childhood-diseases-presenting-with-dermatologic-manifestations
#10
REVIEW
Adam Z Fink, Julia K Gittler, Radhika N Nakrani, Jonathan Alis, Einat Blumfield, Terry L Levin
PURPOSE: Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs. METHODS: We review the imaging findings in childhood diseases associated with dermatologic manifestations. FINDINGS: Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, leukemia/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, basal cell nevus syndrome, Cowden's syndrome, Tuberous Sclerosis),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura)...
October 31, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/29119228/macropinocytosis-mtorc1-and-cellular-growth-control
#11
REVIEW
Sei Yoshida, Regina Pacitto, Ken Inoki, Joel Swanson
The growth and proliferation of metazoan cells are driven by cellular nutrient status and by extracellular growth factors. Growth factor receptors on cell surfaces initiate biochemical signals that increase anabolic metabolism and macropinocytosis, an actin-dependent endocytic process in which relatively large volumes of extracellular solutes and nutrients are internalized and delivered efficiently into lysosomes. Macropinocytosis is prominent in many kinds of cancer cells, and supports the growth of cells transformed by oncogenic K-Ras...
November 8, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29115444/downregulation-of-microrna%C3%A2-124%C3%A2-3p-suppresses-the-mtor-signaling-pathway-by-targeting-ddit4-in-males-with-major-depressive-disorder
#12
Qiuling Wang, Gaofeng Zhao, Zhenzhen Yang, Xia Liu, Ping Xie
Recent investigations have suggested that microRNAs (miRNAs or miRs) are involved in several pathways that may contribute to the pathomechanism of major depressive disorder (MDD). Sex may not only act as a demographic factor in clinical practive, but may also play a vital role in the molecular heterogeneity of MDD. Although many molecular changes correlated with MDD are found in males, the molecular mechanisms of MDD remain poorly understood. The present study performed bioinformatics analysis to investigate the pathomechanism of MDD in males...
November 6, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29114301/subependymal-giant-cell-astrocytoma-associated-hyperproteinorrhachia-causing-shunt-failures-and-nonobstructive-hydrocephalus-report-of-successful-treatment-with-long-term-follow-up
#13
Ekkehard Kasper, Yosef Laviv, Mohammed-Adeeb E Sebai, Ning Lin, William Butler
Subependymal giant cell astrocytomas (SEGAs) are histologically benign tumors most frequently associated with tuberous sclerosis complex (TSC). Despite their benign histopathological appearance, they may cause unfavorable outcomes due to their intraventricular location. Rarely, SEGA may be associated with hyperproteinorrhachia (high levels of proteins in the cerebrospinal fluid [CSF]), which causes malresorptive, communicating hydrocephalus; certainly, this scenario makes shunt obstruction likely in this patient population...
October 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29103422/novel-inflammatory-neuropathology-in-immature-brain-1-fetal-tuberous-sclerosis-2-febrile-seizures-3-%C3%AE-b-crystallin-and-4-role-of-astrocytes
#14
Harvey B Sarnat, Morris H Scantlebury
Though the term "inflammation" is traditionally defined as proliferation or infiltration of lymphatic cells of the lymphatic immune system and macrophages or as immunoreactive proteins including cytokines, interleukins and major histocompatibility complexes, recently recognized reactions to tissue injury also are inflammation, often occurring in the central nervous system in conditions where they previously were not anticipated and where they may play a role in both pathogenesis and repair. We highlight 4 such novel inflammatory conditions revealed by neuropathologic studies: (1) inflammatory markers and cells in the brain of human fetuses with tuberous sclerosis complex and perhaps other disorders of the mechanistic target of rapamycin genetic or metabolic pathway, (2) inflammatory markers in the brain related to febrile seizures of infancy and early childhood, (3) heat-shock protein upregulation in glial cells and neurons at sites of chronic epileptic foci, and (4) the emerging role of astrocytes in the presence of and participation in inflammation...
August 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#15
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
November 3, 2017: Pediatrics
https://www.readbyqxmd.com/read/29091770/the-mtorc1-signaling-network-senses-changes-in-cellular-purine-nucleotide-levels
#16
Gerta Hoxhaj, James Hughes-Hallett, Rebecca C Timson, Erika Ilagan, Min Yuan, John M Asara, Issam Ben-Sahra, Brendan D Manning
Mechanistic (or mammalian) target of rapamycin complex 1 (mTORC1) integrates signals from growth factors and nutrients to control biosynthetic processes, including protein, lipid, and nucleic acid synthesis. We find that the mTORC1 pathway is responsive to changes in purine nucleotides in a manner analogous to its sensing of amino acids. Depletion of cellular purines, but not pyrimidines, inhibits mTORC1, and restoration of intracellular adenine nucleotides via addition of exogenous purine nucleobases or nucleosides acutely reactivates mTORC1...
October 31, 2017: Cell Reports
https://www.readbyqxmd.com/read/29090203/angiomyolipoma-of-the-glabellar-region
#17
Hyo Joong Kim, Chan Min Chung, Jae Yeon Park, Sung Gyun Jung
Angiomyolipomas are hamartomatous lesions consisting of smooth muscle bundles, thick-walled blood vessels, and mature adipocytes. They are usually found in the kidneys of tuberous sclerosis patients and more rarely in other organs, such as the liver, the oral cavity, the sinonasal tract, the heart, the large intestines, the lungs, and the skin. Cutaneous angiomyolipoma has shown to be very rare and generally occurs at the ends of the digits, the elbows, the ears, and the nose. Herein, we report the first documented case of angiomyolipoma of the glabellar region...
September 2017: Arch Craniofac Surg
https://www.readbyqxmd.com/read/29089812/papillary-thyroid-carcinoma-in-a-boy-with-familial-tuberous-sclerosis-complex-attributable-to-a-tsc2-deletion-a-case-report
#18
M Flader, P Kurzawa, J Maldyk, J Sygut, J Harasymczuk, A Kropinska, D Handkiewicz-Junak, B Jarzab, K Kotulska, M Niedziela
Tuberous sclerosis complex (tsc), a phacomatosis, is a rare genetic disease (autosomal dominant; incidence: 1 in 6,800-17,300) associated with mutations in the TSC1 and TSC2 genes, 70% of which are sporadic. The disease causes benign tumours in the brain, kidneys, heart, lungs, skin, and eyes; thyroid lesions are extremely rare. A 13-year-old euthyroid boy with a hereditary form of tsc (del 4730G in TSC2, also seen in 2 sisters and the father) was admitted to hospital with a thyroid nodule. Physical examination revealed a nodular left lobe with increased consistency...
October 2017: Current Oncology
https://www.readbyqxmd.com/read/29080681/uncoupling-of-er-mitochondrial-oxidative-stress-in-mtorc1-hyperactivation-associated-skin-hypopigmentation
#19
Fei Yang, Lingli Yang, Mari Wataya-Kaneda, Takuji Yoshimura, Atsushi Tanemura, Ichiro Katayama
Accumulating evidence has described the involvement of mTOR complex 1 (mTORC1) signaling in pigmentation regulation; however, the precise mechanism is not fully understood. Here, we generated mice with conditional deletion of the mTORC1 suppressor tuberous sclerosis complex 2 (Tsc2) in melanocytes. It resulted in constitutive hyperactivation of mTORC1 and reduced skin pigmentation. Mechanistically, neither the number of melanocytes nor the expression of melanogenesis-related enzymes was decreased; however, endoplasmic reticulum (ER) and mitochondrial oxidative stress, and lower melanization in melanosomes were observed...
October 25, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29078722/local-translation-of-the-down-syndrome-cell-adhesion-molecule-dscam-mrna-in-the-vertebrate-central-nervous-system
#20
María Luz Montesinos
Local translation of synaptic mRNAs is an important process related to key aspects of central nervous system development and physiology, including dendritogenesis, axonal growth cone morphology and guidance and synaptic plasticity. Accordingly, local translation is compromised in several intellectual disabilities, including Fragile X syndrome, tuberous sclerosis and Down syndrome. Down Syndrome Cell Adhesion Molecule (DSCAM) is a gene with ascribed functions in neuronal wiring that belongs to the Down Syndrome Critical Region (DSCR) of chromosome 21...
October 27, 2017: Journal of Neurogenetics
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