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https://www.readbyqxmd.com/read/29344140/familial-genetic-tuberous-sclerosis-complex-associated-with-bilateral-giant-renal-angiomyolipoma-a-case-report
#1
Lina Wang, Dawei Ni, Lin Zhong, Jianbo Wang
Tuberous sclerosis complex (TSC) is an autosomal dominant disease involving multiple organs, but there are a limited number of reports on family TSC. In the present report, a case of a 52-year-old female with a familial genetic TSC, associated with bilateral giant renal angiomyolipoma, was described. The mother, second elder brother and daughter of the patient all exhibited TSC, but the clinical manifestations, and therapeutic prognosis between the family members were not the same. The present case report aimed at identifying an effective diagnostic method and treatment through additional study of familial genetic TSC, in order to prolong and improve the quality of life for patients with TSC...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29344138/clinical-and-genetic-analysis-of-tuberous-sclerosis-complex-associated-renal-angiomyolipoma-in-chinese-pedigrees
#2
Shuqiang Li, Yushi Zhang, Jinxing Wei, Xuepei Zhang
Tuberous sclerosis complex-associated renal angiomyolipoma (TSC-RAML) confers a high risk of bleeding and even mortality. However, data on TSC-RAML in Chinese pedigrees is extremely lacking. The present study aimed to investigate its clinical and genetic characteristics by obtaining a detailed medical history from 6 probands and their family members, and reassessing blood tests, computed tomography and renal dynamic imaging examinations that were conducted in the TSC-RAML patients. The TSC1/TSC2 mutation was detected in 2 families...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29343816/sclerotic-bone-lesions-as-a-potential-imaging-biomarker-for-the-diagnosis-of-tuberous-sclerosis-complex
#3
Susanne Brakemeier, Lars Vogt, Lisa C Adams, Bianca Zukunft, Gerd Diederichs, Bernd Hamm, Klemens Budde, Kai-Uwe Eckardt, Marcus R Makowski
Tuberous-sclerosis-complex (TSC) is associated with a high lifetime risk of severe complications. Clinical manifestations are largely variable and diagnosis is often missed. Sclerotic-bone-lesions (SBL) could represent a potential imaging biomarker for the diagnosis of TSC. In this study, computed tomography (CT) data sets of 49 TSC patients (31 females) were included and compared to an age/sex matched control group. Imaging features of SBLs included frequency, size and location pattern. Sensitivities, specificities and cutoff values for the diagnosis of TSC were established for the skull, thorax, and abdomen/pelvis...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29342837/effect-of-exposed-surface-area-volume-and-environmental-ph-on-the-calcium-ion-release-of-three-commercially-available-tricalcium-silicate-based-dental-cements
#4
Sivaprakash Rajasekharan, Chris Vercruysse, Luc Martens, Ronald Verbeeck
Tricalcium silicate cements (TSC) are used in dental traumatology and endodontics for their bioactivity which is mostly attributed to formation of calcium hydroxide during TSC hydration and its subsequent release of calcium and hydroxide ions. The aim of this study was to determine the effect of volume (Vol), exposed surface area (ESA) and pH of surrounding medium on calcium ion release. Three commercially available hydraulic alkaline dental cements were mixed and condensed into cylindrical tubes of varying length and diameter (n = 6/group)...
January 13, 2018: Materials
https://www.readbyqxmd.com/read/29340326/mtorc1-inhibition-is-an-effective-treatment-for-sporadic-renal-angiomyolipoma
#5
Oren Pleniceanu, Dorit Omer, Einat Azaria, Orit Harari-Steinberg, Benjamin Dekel
Introduction: Renal angiomyolipoma (AML) is the most common benign renal tumor. Despite a generally benign histology, AML can result in significant morbidity, from intra-abdominal hemorrhage and reduction in kidney function. While classically associated with the autosomal dominant disorder tuberous sclerosis complex (TSC) or with pulmonary lymphangioleiomyomatosis, most AMLs are sporadic. Mammalian target of rapamycin complex 1 (mTORC1) inhibitors (e.g., sirolimus) have been found to be effective in treating TSC- or lymphangioleiomyomatosis-associated AML, but to date it is unknown whether this strategy is effective for sporadic AML...
January 2018: KI Reports
https://www.readbyqxmd.com/read/29339522/effect-of-beta-agonists-on-lam-progression-and-treatment
#6
Kang Le, Wendy K Steagall, Mario Stylianou, Gustavo Pacheco-Rodriguez, Thomas N Darling, Martha Vaughan, Joel Moss
Lymphangioleiomyomatosis (LAM), a rare disease of women, is associated with cystic lung destruction resulting from the proliferation of abnormal smooth muscle-like LAM cells with mutations in the tuberous sclerosis complex (TSC) genes TSC1 and/or TSC2 The mutant genes and encoded proteins are responsible for activation of the mechanistic target of rapamycin (mTOR), which is inhibited by sirolimus (rapamycin), a drug used to treat LAM. Patients who have LAM may also be treated with bronchodilators for asthma-like symptoms due to LAM...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#7
Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronica
The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of "mTORopathies"...
January 17, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29324470/fibroma-like-pecoma-a-tuberous-sclerosis-complex-related-lesion
#8
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/29315008/clostridium-perfringens-contamination-in-retail-meat-and-meat-based-products-in-bursa-turkey
#9
Artun Yibar, Ece Cetin, Zafer Ata, Evren Erkose, Mustafa Tayar
This study examined the incidence of Clostridium perfringens in raw, ready-to-cook (RTC), and ready-to-eat (RTE) meat and meat-based products (N = 306) collected from restaurants, supermarkets, and butcher shops in Bursa, Turkey. In addition, we investigated the presence of the C. perfringens enterotoxin (CPE), as well as cpe genes and their source (chromosomal or plasmid borne). In this study, tryptose sulfite cycloserine (TSC) agar for classic culture isolation and API and real-time polymerase chain reaction (RT-PCR) techniques were used to identify C...
January 9, 2018: Foodborne Pathogens and Disease
https://www.readbyqxmd.com/read/29314570/transubclavian-approach-a-competitive-access-for-transcatheter-aortic-valve-implantation-as-compared-to-transfemoral
#10
Ignacio J Amat-Santos, Paol Rojas, Hipólito Gutiérrez, Silvio Vera, Javier Castrodeza, Javier Tobar, L Renier Goncalves-Ramirez, Manuel Carrasco, Pablo Catala, José A San Román
AIMS: Empirically, transfemoral (TF) approach is the first choice for transcatheter aortic valve implantation (TAVI). We aimed to investigate whether transubclavian (TSc) and TF approaches present comparable major outcomes according to current evidence. METHODS: We systematically searched PubMed, EMBASE, and Cochrane database for studies with symptomatic aortic stenosis patients who underwent TAVI through TF or TSc/axillary access from January/2006 to January/2017...
January 3, 2018: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/29313307/prenatal-and-postnatal-diagnosis-of-rhabdomyomas-and-tuberous-sclerosis-complex-by-ultrafast-and-standard-mri
#11
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
#12
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
#13
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/29303976/thermally-stimulated-currents-in-nanocrystalline-titania
#14
Mara Bruzzi, Riccardo Mori, Andrea Baldi, Ennio Antonio Carnevale, Alessandro Cavallaro, Monica Scaringella
A thorough study on the distribution of defect-related active energy levels has been performed on nanocrystalline TiO₂. Films have been deposited on thick-alumina printed circuit boards equipped with electrical contacts, heater and temperature sensors, to carry out a detailed thermally stimulated currents analysis on a wide temperature range (5-630 K), in view to evidence contributions from shallow to deep energy levels within the gap. Data have been processed by numerically modelling electrical transport...
January 5, 2018: Nanomaterials
https://www.readbyqxmd.com/read/29297180/giant-cardiac-tumors-in-the-newborn-an-unusual-image
#15
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/29296616/everolimus-for-treatment-of-tuberous-sclerosis-complex-associated-neuropsychiatric-disorders
#16
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/29287601/mtor-inhibition-improves-the-immunomodulatory-properties-of-human-bone-marrow-mesenchymal-stem-cells-by-inducing-cox-2-and-pge2
#17
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/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#18
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/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/29273060/-we-all-want-to-succeed-but-we-ve-also-got-to-be-realistic-about-what-is-happening-an-ethnographic-study-of-relationships-in-trial-oversight-and-their-impact
#20
Anne Daykin, Lucy E Selman, Helen Cramer, Sharon McCann, Gillian W Shorter, Matthew R Sydes, Carrol Gamble, Rhiannon Macefield, J Athene Lane, Alison Shaw
BACKGROUND: The oversight and conduct of a randomised controlled trial involves several stakeholders, including a Trial Steering Committee (TSC), Trial Management Group (TMG), Data Monitoring Committee (DMC), funder and sponsor. We aimed to examine how the relationships between these stakeholders affect the trial oversight process and its rigour, to inform future revision of Good Clinical Practice guidelines. METHODS: Using an ethnographic study design, we observed the oversight processes of eight trials and conducted semi-structured interviews with members of the trials' TSCs and TMGs, plus other relevant informants, including sponsors and funders of trials...
December 22, 2017: Trials
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