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https://www.readbyqxmd.com/read/29313307/prenatal-and-postnatal-diagnosis-of-rhabdomyomas-and-tuberous-sclerosis-complex-by-ultrafast-and-standard-mri
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/29230685/calcitriol-reverses-the-down-regulation-pattern-of-tuberous-sclerosis-complex-genes-in-an-in-vitro-calcification-model
#5
Eraldo Fonseca Dos Santos Junior, Roberta Rodrigues de Lemos Gitirana, Darlene Paiva Bezerra, João Ricardo Mendes de Oliveira
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with autosomal dominant inheritance, and most of the cases are related to loss of function of the TSC1 and TSC2 genes. TSC may occur with a wide range of clinical findings and skin, kidney, brain, and heart are the most commonly affected organs. Brain calcifications in TSC are also described and reported as diffuse and without pattern of symmetry or bilaterality. Recently, a new discovery opened the possibility of using vitamin D (VitD) for treating cerebral calcifications...
December 11, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29221145/subependymal-giant-cell-astrocytomas-in-tuberous-sclerosis-complex-have-consistent-tsc1-tsc2-biallelic-inactivation-and-no-braf-mutations
#6
Anika Bongaarts, Krinio Giannikou, Roy J Reinten, Jasper J Anink, James D Mills, Floor E Jansen, G M Wim Spliet, Willfred F A den Dunnen, Roland Coras, Ingmar Blümcke, Werner Paulus, Theresa Scholl, Martha Feucht, Katarzyna Kotulska, Sergiusz Jozwiak, Anna Maria Buccoliero, Chiara Caporalini, Flavio Giordano, Lorenzo Genitori, Figen Söylemezoğlu, José Pimentel, Mark Nellist, Antoinette Y N Schouten-van Meeteren, Anwesha Nag, Angelika Mühlebner, David J Kwiatkowski, Eleonora Aronica
Subependymal giant cell astrocytomas (SEGAs) are rare, low-grade glioneuronal brain tumors that occur almost exclusively in patients with tuberous sclerosis complex (TSC). Though histologically benign, SEGAs can lead to serious neurological complications, including hydrocephalus, intractable seizures and death. Previous studies in a limited number of SEGAs have provided evidence for a biallelic two-hit inactivation of either TSC1 or TSC2, resulting in constitutive activation of the mechanistic target of rapamycin complex 1 pathway...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29196670/mutational-analysis-of-tsc1-and-tsc2-genes-in-tuberous-sclerosis-complex-patients-from-greece
#7
Socratis Avgeris, Florentia Fostira, Andromachi Vagena, Yiannis Ninios, Angeliki Delimitsou, Radek Vodicka, Radek Vrtel, Sotirios Youroukos, Dimitrios J Stravopodis, Metaxia Vlassi, Aristotelis Astrinidis, Drakoulis Yannoukakos, Gerassimos E Voutsinas
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benign tumors in the brain and other vital organs. The genes implicated in disease development are TSC1 and TSC2. Here, we have performed mutational analysis followed by a genotype-phenotype correlation study based on the clinical characteristics of the affected individuals. Twenty unrelated probands or families from Greece have been analyzed, of whom 13 had definite TSC, whereas another 7 had a possible TSC diagnosis. Using direct sequencing, we have identified pathogenic mutations in 13 patients/families (6 in TSC1 and 7 in TSC2), 5 of which were novel...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29187524/dtbc1d7-regulates-systemic-growth-independently-of-tsc-through-insulin-signaling
#8
Suxia Ren, Zengyi Huang, Yuqiang Jiang, Tao Wang
The insulin signaling pathway plays key roles in systemic growth. TBC1D7 has recently been identified as the third subunit of the tuberous sclerosis complex (TSC), a negative regulator of cell growth. Here, we used Drosophila as a model system to dissect the physiological function of TBC1D7 in vivo. In mutants lacking TBC1D7, cell and organ growth were promoted, and TBC1D7 limited cell growth in a cell-nonautonomous and TSC-independent manner. TBC1D7 is specifically expressed in insulin-producing cells in the fly brain and regulated biosynthesis and release of insulin-like peptide 2, leading to systemic growth...
November 29, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/29129521/diffusion-tensor-imaging-and-magnetic-resonance-spectroscopy-in-a-patient-with-adult-onset-tuberous-sclerosis-complex
#9
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/29089812/papillary-thyroid-carcinoma-in-a-boy-with-familial-tuberous-sclerosis-complex-attributable-to-a-tsc2-deletion-a-case-report
#10
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/29064346/metabolic-counterparts-of-sodium-accumulation-in-multiple-sclerosis-a-whole-brain-23-na-mri-and-fast-1-h-mrsi-study
#11
Maxime Donadieu, Yann Le Fur, Adil Maarouf, Soraya Gherib, Ben Ridley, Lauriane Pini, Stanislas Rapacchi, Sylviane Confort-Gouny, Maxime Guye, Lothar R Schad, Andrew A Maudsley, Jean Pelletier, Bertrand Audoin, Wafaa Zaaraoui, Jean-Philippe Ranjeva
BACKGROUND: Increase of brain total sodium concentrations (TSC) is present in multiple sclerosis (MS), but its pathological involvement has not been assessed yet. OBJECTIVE: To determine in vivo the metabolic counterpart of brain sodium accumulation. MATERIALS/METHODS: Whole brain (23)Na-MR imaging and 3D-(1)H-EPSI data were collected in 21 relapsing-remitting multiple sclerosis (RRMS) patients and 20 volunteers. Metabolites and sodium levels were extracted from several regions of grey matter (GM), normal-appearing white matter (NAWM) and white matter (WM) T2 lesions...
October 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29023667/postnatal-reduction-of-tuberous-sclerosis-complex-1-expression-in-astrocytes-and-neurons-causes-seizures-in-an-age-dependent-manner
#12
Jia Zou, Bo Zhang, David H Gutmann, Michael Wong
OBJECTIVE: Epilepsy is one of the most prominent symptoms of tuberous sclerosis complex (TSC), a genetic disorder, and may be related to developmental defects resulting from impaired TSC1 or TSC2 gene function in astrocytes and neurons. Inactivation of the Tsc1 gene driven by a glial-fibrillary acidic protein (GFAP) promoter during embryonic brain development leads to widespread pathologic effects on astrocytes and neurons, culminating in severe, progressive epilepsy in mice (Tsc1(GFAP)(-Cre) mice)...
October 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/28993887/the-effect-of-everolimus-on-renal-angiomyolipoma-in-pediatric-patients-with-tuberous-sclerosis-being-treated-for-subependymal-giant-cell-astrocytoma
#13
John J Bissler, David N Franz, Michael D Frost, Elena Belousova, E Martina Bebin, Steven Sparagana, Noah Berkowitz, Antonia Ridolfi, J Christopher Kingswood
BACKGROUND: Patients with tuberous sclerosis complex (TSC) often have multiple TSC-associated hamartomas, particularly in the brain and kidney. METHODS: This was a post hoc analysis of pediatric patients being treated for subependymal giant cell astrocytomas (SEGAs) during the phase 3, randomized, double-blind, placebo-controlled EXIST-1 trial. Patients were initially randomly assigned to receive everolimus 4.5 mg/m(2)/day (target blood trough 5-15 mg/dl) or placebo and could continue in an open-label extension phase...
October 9, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28993242/a-distinct-microrna-expression-profile-is-associated-with-%C3%AE-11-c-methyl-l-tryptophan-amt-pet-uptake-in-epileptogenic-cortical-tubers-resected-from-patients-with-tuberous-sclerosis-complex
#14
Shruti Bagla, Daniela Cukovic, Eishi Asano, Sandeep Sood, Aimee Luat, Harry T Chugani, Diane C Chugani, Alan A Dombkowski
Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in various organs and arises due to mutations in the TSC1 or TSC2 genes. TSC mutations lead to a range of neurological manifestations including epilepsy, cognitive impairment, autism spectrum disorders (ASD), and brain lesions that include cortical tubers. There is evidence that seizures arise at or near cortical tubers, but it is unknown why some tubers are epileptogenic while others are not. We have previously reported increased tryptophan metabolism measured with α[(11)C]-methyl-l-tryptophan (AMT) positron emission tomography (PET) in epileptogenic tubers in approximately two-thirds of patients with tuberous sclerosis and intractable epilepsy...
October 7, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28982809/understanding-the-health-economic-burden-of-patients-with-tuberous-sclerosis-complex-tsc-with-epilepsy-a-retrospective-cohort-study-in-the-uk-clinical-practice-research-datalink-cprd
#15
Charles Shepherd, Matthias Koepp, Melissa Myland, Keyur Patel, Cristiana Miglio, Vathani Siva, Elizabeth Gray, Maureen Neary
INTRODUCTION: Epilepsy is highly prevalent in tuberous sclerosis complex (TSC), a multi-system genetic disorder. The clinical and economic burden of this condition is expected to be substantial due to treatment challenges, debilitating co-morbidities and the relationship between TSC-related manifestations. This study estimated healthcare resource utilisation (HCRU) and costs for patients with TSC with epilepsy (TSC+E) in the UK. METHODS: Patients with TSC+E in the Clinical Practice Research Datalink (CPRD) linked to Hospital Episodes Statistics were identified from April 1997 to March 2012...
October 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28895825/management-of-a-rare-disease-population-a-model-for-identifying-a-patient-population-with-tuberous-sclerosis-complex
#16
Michael P Johnson, Jonathan C Johnson, Nicole M Engel-Nitz, Qayyim Said, Judith Prestifilippo, Tanjala T Gipson, James Wheless
Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting the brain and other vital organs with varying symptoms and severity among patients. This study developed and validated a risk model to identify patients with TSC using large databases of medical and pharmacy claims.
August 2017: Managed Care
https://www.readbyqxmd.com/read/28888969/mtor-related-neuropathology-in-mutant-tsc2-zebrafish-phenotypic-transcriptomic-and-pharmacological-analysis
#17
Chloë Scheldeman, James D Mills, Aleksandra Siekierska, Ines Serra, Daniëlle Copmans, Anand M Iyer, Benjamin J Whalley, Jan Maes, Anna C Jansen, Lieven Lagae, Eleonora Aronica, Peter A M de Witte
Tuberous sclerosis complex (TSC) is a rare, genetic disease caused by loss-of-function mutations in either TSC1 or TSC2. Patients with TSC are neurologically characterized by the presence of abnormal brain structure, intractable epilepsy and TSC-associated neuropsychiatric disorders. Given the lack of effective long-term treatments for TSC, there is a need to gain greater insight into TSC-related pathophysiology and to identify and develop new treatments. In this work we show that homozygous tsc2(-/-) mutant zebrafish larvae, but not tsc2(+/-) and WT larvae, display enlarged brains, reduced locomotor behavior and epileptiform discharges at 7dpf...
September 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28868251/maternal-and-fetal-tuberous-sclerosis-do-we-know-enough-as-an-obstetrician
#18
Nalini Sharma, Shriram Sharma, Jion Lalnunnem Thiek, Santa Singh Ahanthem, Arnab Kalita, Donboklang Lynser
BACKGROUND: Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic condition that mainly causes hamartomas to develop in different parts of the body. TSC, an autosomal dominant trait with variable penetrance, can adversely affect maternal and fetal outcome. CASE PRESENTATION: In this paper, a case of maternal and fetal tuberous sclerosis having fetal cardiac rhabdomyoma detected in utero at 26 weeks was reported who subsequently had fetal demise at 31 weeks...
April 2017: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/28866062/presurgical-administration-of-mtor-inhibitors-in-patients-with-large-subependymal-giant-cell-astrocytoma-associated-with-tuberous-sclerosis-complex
#19
Tao Jiang, Jiang Du, Raynald, Junmei Wang, Chunde Li
BACKGROUND: Direct surgical resection remains the standard treatment for patients with tuberous sclerosis complex (TSC) with a large subependymal giant cell astrocytoma (SEGA). Rapamycin or everolimus is seldom used in these patients because of the risk of increased intracranial pressure and possibility of sudden death. CASE DESCRIPTIONS: Three patients with TSC and a large intracranial SEGA received oral rapamycin (0.5 mg/day) or everolimus (2.5 mg/day) before surgery for tumor resection...
November 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28808237/coding-and-small-non-coding-transcriptional-landscape-of-tuberous-sclerosis-complex-cortical-tubers-implications-for-pathophysiology-and-treatment
#20
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
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