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https://www.readbyqxmd.com/read/29333579/factors-associated-with-the-number-and-size-of-renal-angiomyolipomas-in-sporadic-angiomyolipoma-saml-a-study-of-adult-patients-with-saml-managed-in-a-dutch-tertiary-referral-center
#1
J L H Ruud Bosch, Francis Vekeman, Mei Sheng Duh, Maureen Neary, Matthew Magestro, Jonathan Fortier, Paul Karner, Raluca Ionescu-Ittu, Bernard A Zonnenberg
PURPOSE: To describe the patient characteristics, treatments, disease monitoring, and kidney function of patients with sporadic angiomyolipoma (sAML), stratified by the number and size of renal angiomyolipomas (AMLs). METHODS: Single-center retrospective analysis of patients with sAML treated from 1990 to 2015 in a dedicated clinic for inheritable tumor syndromes in a tertiary referral center from the Netherlands. Patients' first AML assessment at the clinic was defined as the index date...
January 15, 2018: International Urology and Nephrology
https://www.readbyqxmd.com/read/29327940/the-different-faces-of-renal-angiomyolipomas-on-radiologic-imaging-a-pictorial-review
#2
Shanigarn Thiravit, Wanwarang Teerasamit, Phakphoom Thiravit
Renal angiomyolipoma (AML) is an uncommon renal tumour, generally composed of mature adipose tissue, dysmorphic blood vessels, and smooth muscle. Identification of intratumoural fat on unenhanced CT images (UECT) is the most reliable finding for establishing the diagnosis of renal AML. However, AMLs sometimes exhibit atypical findings, including cystic as well as solid forms; some of these variants overlap with the appearance of other renal tumours. A rare type of AML, the epithelioid type, possesses malignant potential...
January 12, 2018: British Journal of Radiology
https://www.readbyqxmd.com/read/29327725/whole-genome-sequencing-reveals-principles-of-brain-retrotransposition-in-neurodevelopmental-disorders
#3
Jasmine Jacob-Hirsch, Eran Eyal, Binyamin A Knisbacher, Jonathan Roth, Karen Cesarkas, Chen Dor, Sarit Farage-Barhom, Vered Kunik, Amos J Simon, Moran Gal, Michal Yalon, Sharon Moshitch-Moshkovitz, Rick Tearle, Shlomi Constantini, Erez Y Levanon, Ninette Amariglio, Gideon Rechavi
Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the whole genomes of 20 brain samples and 80 non-brain samples, and characterized the retrotransposition landscape of patients affected by a variety of neurodevelopmental disorders including Rett syndrome, tuberous sclerosis, ataxia-telangiectasia and autism. We report that the number of retrotranspositions in brain tissues is higher than that observed in non-brain samples and even higher in pathologic vs normal brains...
January 12, 2018: Cell Research
https://www.readbyqxmd.com/read/29325814/corrigendum-to-development-of-hypomelanotic-macules-is-associated-with-constitutive-activated-mtorc1-in-tuberous-sclerosis-complex-mol-genet-metab-120-4-apr-2017-384-391
#4
L B Møller, B Schönewolf-Greulich, T Rosengren, L J Larsen, J R Ostergaard, M Sommerlund, C Ostenfeldt, B Stausbøl-Grøn, K M Linnet, P A Gregersen, U B Jensen
No abstract text is available yet for this article.
January 8, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29324470/fibroma-like-pecoma-a-tuberous-sclerosis-complex-related-lesion
#5
Ana B Larque, Richard L Kradin, Ivan Chebib, G Petur Nielsen, Martin K Selig, Elizabeth A Thiele, Anat Stemmer-Rachamimov, Miriam A Bredella, Pawel Kurzawa, Vikram Deshpande
Perivascular epithelioid cell tumor (PEComa), mesenchymal tumors morphologically characterized by epithelioid cells, coexpress melanocytic and muscle markers. Herein, we describe a heretofore-undescribed tuberous sclerosis complex (TSC)-related neoplasm, morphologically resembling a soft tissue fibroma-like lesion, but showing an immunophenotype resembling PEComa. We identified 3 soft tissue fibroma-like lesions in individuals with TSC. We also evaluated 6 TSC-related periungual fibroma as well as a range of non-TSC fibroma-like lesions (n=19)...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29314583/novel-mutations-and-phenotypes-of-epilepsy-associated-genes-in-epileptic-encephalopathies
#6
Peng Zhou, Na He, Jing-Wen Zhang, Zhi-Jian Lin, Jie Wang, Li-Min Yan, Heng Meng, Bin Tang, Bing-Mei Li, Xiao-Rong Liu, Yi-Wu Shi, Qiong-Xiang Zhai, Yong-Hong Yi, Wei-Ping Liao
Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We performed targeted next-generation sequencing in 70 patients with epileptic encephalopathies. The likely pathogenicity of variants in candidate genes was evaluated by American College of Medical Genetics and Genomics (ACMG) scoring taken together with the accepted clinical presentation. Thirty-three candidate variants were detected after population filtration and computational prediction. According to ACMG, 21 candidate variants, including 18 de novo variants, were assessed to be pathogenic/likely pathogenic with clinical concordance...
January 4, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29313307/prenatal-and-postnatal-diagnosis-of-rhabdomyomas-and-tuberous-sclerosis-complex-by-ultrafast-and-standard-mri
#7
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
#8
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/29308833/severe-bleeding-complications-and-multiple-kidney-transplants-in-a-patient-with-tuberous-sclerosis-complex-caused-by-a-novel-tsc2-missense-variant
#9
Stela Živčić-Ćosić, Karin Mayer, Gordana Đorđević, Mark Nellist, Marianne Hoogeveen-Westerveld, Damir Miletić, Sanjin Rački, Hanns-Georg Klein, Zlatko Trobonjača
We presented an extremely severe case of tuberous sclerosis complex (TSC) in a female patient with recurring, life-threatening bleeding complications related to renal angiomyolipomas. Massive intratumoral hemorrhage required surgical removal of both angiomyolipomatous kidneys and kidney transplantation. During the follow-up period, the patient developed severe metrorrhagia that eventually led to hysterectomy and salpingo-oophorectomy. Bleeding from the operative sites caused the loss of the first kidney transplant received from the mother, and immediate hemorrhagic shock led to the loss of the second, cadaveric kidney allograft...
December 31, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/29296616/everolimus-for-treatment-of-tuberous-sclerosis-complex-associated-neuropsychiatric-disorders
#10
Darcy A Krueger, Anjali Sadhwani, Anna W Byars, Petrus J de Vries, David N Franz, Vicky H Whittemore, Rajna Filip-Dhima, Donna Murray, Kush Kapur, Mustafa Sahin
Objective: To evaluate if short-term treatment with everolimus was safe and could improve neurocognition and behavior in children with TSC. Methods: This was a prospective, double-blind randomized, placebo-controlled two-center phase II study. Participants diagnosed with TSC and age 6-21 years were treated with 4.5 mg/m2 per day of oral everolimus (n = 32) or matching placebo (n = 15) taken once daily for 6 months. For efficacy, a comprehensive neurocognitive and behavioral evaluation battery was performed at baseline, 3 months, and 6 months...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29296069/tuberous-sclerosis-presenting-as-neonatal-cyanosis-because-of-rhabdomyoma-causing-tricuspid-valve-obstruction-needing-a-blalock-taussig-shunt
#11
Monther Obeidat, Yazan Qawasmeh, Hani Tarawneh, Ibrahim Sawalhah, Ala'a Tawalbeh
We report a newborn female baby who presented at 6 hours of age with cyanosis without any signs of respiratory distress. Cardiovascular and systemic examination was unremarkable apart from cyanosis (saturation 75%). An echocardiogram showed multiple echogenic and homogeneous masses in the interventricular septum, one of which was big and protruding through the tricuspid valve causing right ventricular inflow obstruction. There was a small atrial septal defect (ASD) shunting right to left and patent ductus arteriosus (PDA) shunting left to right...
January 2018: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/29291576/lithium-promotes-the-production-of-reactive-oxygen-species-via-gsk-3%C3%AE-tsc2-tor-signaling-in-the-gill-of-zebrafish-danio-rerio
#12
Dongwu Liu, Lili Gao, Zhuangzhuang Zhang, Shiyi Tao, Qiuxiang Pang, Ao Li, Hongkuan Deng, Hairui Yu
In this study, the mechanism that lithium (Li) promotes the production of reactive oxygen species (ROS) via the glycogen synthase kinase-3β (GSK-3β)/tuberous sclerosis complex 2 (TSC2)/target of rapamycin (TOR) signaling was investigated in the gill of zebrafish (Danio rerio). After the zebrafish were treated by 25 and 50 mg/L Li+, the mRNA expression of GSK-3β and TSC2 was inhibited, but the expression of TOR was induced in the gill of zebrafish. The levels of hydrogen peroxide (H2O2), superoxide anion (O2·-), and hydroxy radical (·OH) as well as the activity of superoxide dismutase (SOD) were increased, while the activities of catalase (CAT), glutathione peroxidase (GSH-PX), and peroxidase (POD) were decreased by 25 and 50 mg/L Li+ treatments...
December 28, 2017: Chemosphere
https://www.readbyqxmd.com/read/29287601/mtor-inhibition-improves-the-immunomodulatory-properties-of-human-bone-marrow-mesenchymal-stem-cells-by-inducing-cox-2-and-pge2
#13
Binsheng Wang, Yu Lin, Yongxian Hu, Wei Shan, Senquan Liu, Yulin Xu, Hao Zhang, Shuyang Cai, Xiaohong Yu, Zhen Cai, He Huang
BACKGROUND: Bone marrow mesenchymal stem cells (MSCs) are promising candidates for the treatment of various inflammatory disorders due to their profound immunomodulatory properties. However, the immunosuppressive capacity of MSCs needs activation by an inflammatory microenvironment, which may negatively impact the therapeutic effect because of increased immunogenicity. Here we explore the role of mammalian target of rapamycin (mTOR) signaling on the immunosuppressive capacity of MSCs, and its impact on immunogenicity in the inflammatory microenvironment...
December 29, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29286955/invisible-honeycomb-like-cavitary-retinal-astrocytic-hamartoma
#14
Phoebe L Mellen, Kareem Sioufi, Jerry A Shields, Carol L Shields
PURPOSE: To report a patient with clinically invisible retinal astrocytic hamartomas (RAHs) detected on optical coherence tomography (OCT) and studied with OCT angiography (OCTA). METHOD: Case report. RESULTS: An 11-year-old healthy girl was evaluated for reduced visual acuity in the right eye. On examination, best-corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. Fundus examination revealed blunted foveal reflex in the right eye and normal findings in the left eye...
December 28, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29285181/correlation-between-tsc1-gene-polymorphism-and-epilepsy
#15
Xiuli Jiang, Jiajia Chen, Quanjiang Song, Weiling Wang, Guangyan Zhang, Ye Li
The correlation between tuberous sclerosis complex 1 (TSC1) gene polymorphism and epilepsy was studied. In total, 38 patients with epilepsy treated in People's Hospital of Rizhao from May 2015 to June 2016 were selected as study subjects, as the observation group, 38 healthy people in the same period were selected as the control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to study the polymorphism of TSC1 gene in the above study subjects. The mRNA expression of TSC1 gene in the observation group and the control group was measured by fluorescence quantitative PCR, the expression of TSC1 protein in the control and observation group was measured by western blotting and ELISA...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#16
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/29283138/chronic-papilledema-in-a-child-with-classical-tuberous-sclerosis
#17
Khyati Amit Jain, Amit Bhurmal Jain
No abstract text is available yet for this article.
January 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29279945/dysplasia-and-overgrowth-magnetic-resonance-imaging-of-pediatric-brain-abnormalities-secondary-to-alterations-in-the-mechanistic-target-of-rapamycin-pathway
#18
REVIEW
Shai Shrot, Misun Hwang, Carl E Stafstrom, Thierry A G M Huisman, Bruno P Soares
The current classification of malformations of cortical development is based on the type of disrupted embryological process (cell proliferation, migration, or cortical organization/post-migrational development) and the resulting morphological anomalous pattern of findings. An ideal classification would include knowledge of biological pathways. It has recently been demonstrated that alterations affecting the mechanistic target of rapamycin (mTOR) signaling pathway result in diverse abnormalities such as dysplastic megalencephaly, hemimegalencephaly, ganglioglioma, dysplastic cerebellar gangliocytoma, focal cortical dysplasia type IIb, and brain lesions associated with tuberous sclerosis...
December 26, 2017: Neuroradiology
https://www.readbyqxmd.com/read/29277498/retinal-astrocytoma-regression-in-tuberous-sclerosis-patients-treated-with-everolimus
#19
Anat Bachar Zipori, Nasrin Tehrani, Asim Ali
Everolimus is an inhibitor of the mammalian target of rapamycin (mTOR) that has been approved by the US Food and Drug Administration for the treatment of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC). Retinal hamartomas, which are one of the major diagnostic features of TSC, tend to remain stable or gradually progress in the natural history of the disease. We report 2 patients with TSC treated with everolimus for SEGA in whom fundus photographs and spectral domain optical coherence tomography demonstrated regression of previously documented multiple retinal hamartomas in all 4 eyes...
December 19, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29275410/recurrent-giant-renal-angiomyolipoma-treated-with-selective-arterial-embolization-a-case-report
#20
Guven Tidim, Ozgur Kilickesmez, Mehmet Gokhan Culha
Renal angiomyolipoma (AML), a rare benign mesenchymal neoplasm, is characterized by the presence of vessels, smooth muscle, and adipose tissue. Treatment should be considered for symptomatic patients or for those at risk for complications, in particular for retroperitoneal bleeding, which is correlated to the size of the tumor, grade of the angiogenic component, and presence of tuberous sclerosis complex. Herein, we report the case of a 39-year-old female with renal AML who was treated in a conservative approach by super-selective embolization...
December 22, 2017: Urologia Internationalis
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