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https://www.readbyqxmd.com/read/29774133/sporadic-renal-angiomyolipoma-in-a-patient-with-birt-hogg-dub%C3%A3-chaperones-in-pathogenesis
#1
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
#2
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/29766561/erythema-nodosum-arising-during-everolimus-therapy-for-tuberous-sclerosis-complex
#3
Eloise R Galligan, Lindsey Fix, Laura E Levin, Lisa Imundo, Darrell J Yamashiro, Maria C Garzon
Indications for everolimus and other drugs within the mammalian target of rapamycin inhibitor class have recently expanded to include tuberous sclerosis complex. Everolimus is generally well tolerated, but it is important for physicians to identify and manage associated cutaneous adverse effects. We report the first case of a child developing erythema nodosum while undergoing everolimus therapy.
May 16, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29766265/surgery-for-subependymal-giant-cell-astrocytomas-in-children-with-tuberous-sclerosis-complex
#4
Martine Fohlen, Sarah Ferrand-Sorbets, Olivier Delalande, Georg Dorfmüller
OBJECTIVE: Subependymal giant cell astrocytomas (SEGAs) are low-grade intraventricular glial tumors that develop in 10-15% of patients with tuberous sclerosis complex; they often cause hydrocephalus and are potentially accessible to a surgical treatment. Our aim is to evaluate morbidity and results after surgery in symptomatic and asymptomatic patients. METHOD: We present a retrospective series of 18 pediatric patients operated on for SEGA between 2006 and 2016 at our institution...
May 15, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29766046/deletion-of-tsc2-in-nociceptors-reduces-target-innervation-ion-channel-expression-and-sensitivity-to-heat
#5
Dan Carlin, Judith P Golden, Amit Mogha, Vijay K Samineni, Kelly R Monk, Robert W Gereau, Valeria Cavalli
The mechanistic target of rapamycin complex 1 (mTORC1) is known to regulate cellular growth pathways, and its genetic activation is sufficient to enhance regenerative axon growth following injury to the central or peripheral nervous systems. However, excess mTORC1 activation may promote innervation defects, and mTORC1 activity mediates injury-induced hypersensitivity, reducing enthusiasm for the pathway as a therapeutic target. While mTORC1 activity is required for full expression of some pain modalities, the effects of pathway activation on nociceptor phenotypes and sensory behaviors are currently unknown...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29764404/advanced-sporadic-renal-epithelioid-angiomyolipoma-case-report-of-an-extraordinary-response-to-sirolimus-linked-to-tsc2-mutation
#6
Marta Espinosa, Juan Maria Roldán-Romero, Ignacio Duran, Enrique de Álava, María Apellaniz-Ruiz, Alberto Cascón, Carmen Garrigos, Mercedes Robledo, Cristina Rodriguez-Antona
BACKGROUND: Renal epithelioid angiomyolipomas (EAML) are rare tumors with aggressive behavior. EAML can be sporadic or develop within the tuberous sclerosis complex syndrome, where mutations of TSC1 or TSC2 genes (critical negative regulators of mTOR Complex 1) result in an increased activation of mTOR pathway. Optimal EAML treatment, including mTOR inhibitors, remains undetermined. CASE PRESENTATION: Here we present the case of a young adult with a renal EAML that after radical nephrectomy developed metastases, first in liver and then in lumbar vertebrae...
May 15, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29758070/rapamycin-independent-igf2-expression-in-tsc2-null-mouse-embryo-fibroblasts-and-human-lymphangioleiomyomatosis-cells
#7
Blanca E Himes, Kseniya Obraztsova, Lurong Lian, Maya Shumyatcher, Ryan Rue, Elena N Atochina-Vasserman, Stella K Hur, Marisa S Bartolomei, Jilly F Evans, Vera P Krymskaya
Lymphangioleiomyomatosis (LAM) is a rare, almost exclusively female lung disease linked to inactivating mutations in tuberous sclerosis complex 2 (TSC2), a tumor suppressor gene that controls cell metabolic state and growth via regulation of the mechanistic target of rapamycin (mTORC1) signaling. mTORC1 is frequently activated in human cancers and, although the mTORC1 inhibitor rapamycin has a cytostatic effect, it is, in general, unable to elicit a robust curative effect or tumor regression. Using RNA-Seq, we identified (1) Insulin-like Growth Factor (IGF2) as one of the genes with the highest fold-change difference between human TSC2-null and TSC2-expressing angiomyolipoma cells from a patient with LAM, and (2) the mouse IGF2 homolog Igf2, as a top-ranking gene according to fold change between Tsc2-/- and Tsc2+/+ mouse embryo fibroblasts (MEFs)...
2018: PloS One
https://www.readbyqxmd.com/read/29744084/frequent-falls-and-confusion-recurrent-hypoglycemia-in-a-patient-with-tuberous-sclerosis-complex
#8
Alexander N Comninos, Lisa Yang, Ali Abbara, Waljit S Dhillo, J H Duncan Bassett, Jeannie F Todd
Recurrent hypoglycemia is common, but its presentation is often insidious resulting in delays in diagnosis and significant morbidity. We describe a case of an insulinoma presenting with falls and confusion in a patient with tuberous sclerosis, demonstrating the importance of early hypoglycemia identification and a potential shared molecular pathogenesis.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29740858/novel-mutations-in-chinese-han-patients-with-tuberous-sclerosis-complex-case-series-and-review-of-the-published-work
#9
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/29727013/everolimus-dosing-recommendations-for-tuberous-sclerosis-complex-associated-refractory-seizures
#10
David N Franz, John A Lawson, Zuhal Yapici, Christian Brandt, Michael H Kohrman, Michael Wong, Mathieu Milh, Adelheid Wiemer-Kruel, Maurizio Voi, Neva Coello, Wing Cheung, Kai Grosch, Jacqueline A French
OBJECTIVE: The present analysis examined the exposure-response relationship by means of the predose everolimus concentration (Cmin ) and the seizure response in patients with tuberous sclerosis complex-associated seizures in the EXIST-3 study. Recommendations have been made for the target Cmin range of everolimus for therapeutic drug monitoring (TDM) and the doses necessary to achieve this target Cmin . METHODS: A model-based approach was used to predict patients' daily Cmin ...
May 4, 2018: Epilepsia
https://www.readbyqxmd.com/read/29723587/duplex-ultrasound-guided-direct-percutaneous-management-of-pseudoaneurysm-of-branch-of-segmental-renal-artery-technique-and-its-outcome
#11
Kumar Manoj, Gaurav Garg, Deepak Nagathan, Sanjeev Kumar Verma, Neera Kohli, Santosh Kumar, Sant Kumar Pandey, Satya Narayan Sankhwar
OBJECTIVE: To describe the role of Duplex-Ultrasound Imaging (DUI) in prompt diagnosis of pseudoaneurysm (PSA) of a branch of the segmental renal artery (b-SRA) and evaluate outcomes of DUI directed percutaneous embolization. METHODS: Forty-five patients were referred to us for the management of intractable renal hematuria. 20 cases (44.44%) had developed PSA after nephrolithotomy. 12 cases (12.66%) had developed PSA after guided renal biopsies. 6 cases (13.33%) had developed PSA following road side trauma...
April 30, 2018: Urology
https://www.readbyqxmd.com/read/29722913/the-tsc1-mtor-plk-axis-regulates-the-homeostatic-switch-from-schwann-cell-proliferation-to-myelination-in-a-stage-specific-manner
#12
Minqing Jiang, Rohit Rao, Jincheng Wang, Jiajia Wang, Lingli Xu, Lai Man Wu, Jonah R Chan, Huimin Wang, Q Richard Lu
Proper peripheral myelination depends upon the balance between Schwann cell proliferation and differentiation programs. The serine/threonine kinase mTOR integrates various environmental cues to serve as a central regulator of cell growth, metabolism, and function. We report here that tuberous sclerosis complex 1 (TSC1), a negative regulator of mTOR activity, establishes a stage-dependent program for Schwann cell lineage progression and myelination by controlling cell proliferation and myelin homeostasis. Tsc1 ablation in Schwann cell progenitors in mice resulted in activation of mTOR signaling, and caused over-proliferation of Schwann cells and blocked their differentiation, leading to hypomyelination...
May 3, 2018: Glia
https://www.readbyqxmd.com/read/29712777/palladin-is-a-neuron-specific-translational-target-of-mtor-signaling-that-regulates-axon-morphogenesis
#13
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
#14
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
#15
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
#16
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
#17
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/29686563/pulmonary-lymphangioleiomyomatosis-associated-with-aggressive-renal-angiomyolipoma
#18
Allison Cooper, Laura Baugh, Shannon Kelley, Howard Huang, Joseph Guileyardo
Lymphangioleiomyomatosis (LAM) is a rare cystic pulmonary disease that may occur in association with mutations in the tuberous sclerosis genes or arise sporadically. The histologic hallmark of the disease is the "LAM" cell, a spindled to epithelioid smooth muscle-like cell that bears morphologic and immunohistochemical resemblance to the perivascular epithelioid cell tumors (PEComas). The origin of the "LAM" cell is unknown; emerging theories suggest that a member of the PEComa family, the renal angiomyolipoma, may be the primary source and that both LAM and angiomyolipomas are associated with the genetic syndrome tuberous sclerosis...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29686177/bilateral-giant-renal-angiomyolipoma-in-a-patient-with-tuberous-sclerosis-complex-a-case-report
#19
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/29685622/early-dietary-restriction-in-rats-alters-skeletal-muscle-tuberous-sclerosis-complex-ribosomal-s6-and-mitogen-activated-protein-kinase
#20
Kara L Calkins, Shanthie Thamotharan, Yun Dai, Bo-Chul Shin, Satish C Kalhan, Sherin U Devaskar
Intrauterine growth restriction is linked to decreased lean body mass and insulin resistance. The mammalian target of rapamycin (mTOR) regulates muscle mass and glucose metabolism; however, little is known about maternal dietary restriction and skeletal muscle mTOR in offspring. We hypothesized that early dietary restriction would decrease skeletal muscle mass and mTOR in the suckling rat. To test this hypothesis, ab libitum access to food or dietary restriction during gestation followed by postnatal cross-fostering to a dietary-restricted or ad libitum-fed rat dam during lactation generated 4 groups: control (CON), intrauterine dietary restricted (IUDR), postnatal dietary restricted (PNDR), and IUDR+PNDR (IPDR)...
March 23, 2018: Nutrition Research
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