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Tuberous Sclerosis Complex

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https://www.readbyqxmd.com/read/28318774/-epithelioid-angiomyolipoma-of-the-kidney-about-one-case-and-malignant-features-evaluation
#1
Pierre-Marie Lavrut, Philippe Paparel, Myriam Decaussin-Petrucci
Renal epithelioid angiomyolipoma (E-AML) is a rare mesenchymal tumor of the kidney included in the family of tumor with perivascular epithelioid cell differentiation (PEComas) and is frequently associated with tuberous sclerosis complex. Since its clinical and radiological features are not specific, the diagnosis remained mostly pathological. Microscopically, E-AML demonstrate proliferation of more than 80% of epithelioid cells with atypia, often associated with necrosis, hemorrhage, mitotic activity and vascular invasion...
March 16, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/28302901/treatment-of-renal-angiomyolipoma-and-other-hamartomas-in-patients-with-tuberous-sclerosis-complex
#2
REVIEW
Joshua A Samuels
Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys, brain, heart, lungs, and skin. Tuberous sclerosis complex is usually caused by a mutation in either the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 gene, resulting in constitutive activation of mammalian target of rapamycin signaling. Currently, mammalian target of rapamycin inhibitors are recommended in adult patients with tuberous sclerosis complex for the treatment of asymptomatic, growing renal angiomyolipoma that are >3 cm in diameter and pediatric or adult patients with brain lesions (subependymal giant cell astrocytoma) that either are growing or are not amenable to surgical resection...
March 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28302202/-two-novel-tsc2-frameshift-mutations-in-tuberous-sclerosis-complex
#3
Yu-Chun Pan, Wei-Qing Wu, Jian-Sheng Xie, Cai-Qun Luo, Ying Hao
High-throughput sequencing was performed for the peripheral blood DNA from two probands in the family with tuberous sclerosis complex (TSC) to determine the sequences of TSC-related genes TSC1 and TSC2 and their splicing regions and identify mutation sites. Amplification primers were designed for the mutation sites and polymerase chain reaction and Sanger sequencing were used to verify the sequences of peripheral blood DNA from the probands and their parents. The two probands had c.3981-3982 insA (p.Asp1327AspfsX87) and c...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28300915/onychogryphosis-in-tuberous-sclerosis-complex-an-unusual-feature
#4
Xiang-Chun Han, Li-Qiang Zheng, Tie-Gang Zheng
Onychogryphosis is an acquired nail plate change. It often affects the toenail and is characterized by an opaque, yellow-brownish nail plate that is distorted, grossly thickened, elongated, and partly curved resembling a ram's horn. Tuberous sclerosis complex is a multisystem disorder associated with high rates of mental retardation, autism, cognitive impairment, behavioral problems, or seizures. Nail disease can also be associated, which is a concern to patients due to pain and nail distortion. We reported a typical tuberous sclerosis complex patient with distinctive clinical features of a ram's horn nails, which presented a great challenge to surgical treatment and nail restoration...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28298741/tuberous-sclerosis-complex-imaging-the-pieces-of-the-puzzle
#5
EDITORIAL
Diana Penha
No abstract text is available yet for this article.
January 2017: Radiologia Brasileira
https://www.readbyqxmd.com/read/28298732/imaging-of-tuberous-sclerosis-complex-a-pictorial-review
#6
Felipe Mussi von Ranke, Igor Murad Faria, Gláucia Zanetti, Bruno Hochhegger, Arthur Soares Souza, Edson Marchiori
Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions...
January 2017: Radiologia Brasileira
https://www.readbyqxmd.com/read/28298606/dengue-virus-activates-the-amp-kinase-mtor-axis-to-stimulate-a-proviral-lipophagy
#7
Tristan X Jordan, Glenn Randall
Robust dengue virus (DENV) replication requires lipophagy, a selective autophagy that targets lipid droplets. The autophagic mobilization of lipids leads to increased β-oxidation in DENV-infected cells. The mechanism by which DENV induces lipophagy is unknown. Here, we show that infection with DENV activates the metabolic regulator 5' adenosine-monophosphate activated kinase (AMPK), and that the silencing or pharmacological inhibition of AMPK activity decreases DENV replication and the induction of lipophagy...
March 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28291513/astrocytic-tumor-with-large-cells-and-worrisome-features-in-two-patients-with-tuberous-sclerosis-drastically-different-diagnoses-and-prognoses
#8
Thomas Roux, Isabelle An-Gourfinkel, Anne Bertrand, Franck Bielle
INTRODUCTION: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease, characterized by the development of benign tumors in several organs. During infancy, 6 - 20% of patients develop brain tumors called subependymal giant cell astrocytoma (SEGA). CASE REPORTS: Here we present two patients with TSC, who displayed acute intracranial tumors requiring surgery. Although both tumors shared similar histological aspects with large astrocytic cells and worrisome features, immunohistochemical and genetic analysis successfully distinguished an opposite diagnosis for the two patients...
March 14, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28288694/mtor-inhibitors-in-the-pharmacologic-management-of-tuberous-sclerosis-complex-and-their-potential-role-in-other-rare-neurodevelopmental-disorders
#9
REVIEW
David N Franz, Jamie K Capal
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is implicated in the disease pathology, and evidence exists to support the use of mTOR inhibitors in treatment. The mTOR pathway has also been investigated as a potential treatment target for several other rare diseases. TSC research has highlighted the value of pursuing targeted therapies based on underlying molecular pathophysiology...
March 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28288225/-clinical-and-genetic-study-patients-with-tuberous-sclerosis-complex
#10
Carla Rubilar, Francisca López, Mónica Troncoso, Andrés Barrios, Luisa Herrera
Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2. OBJECTIVE: To characterize clinically and genetically patients diagnosed with TSC. PATIENTS AND METHOD: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them. The exon 15 of TSC1 gene and exons 33, 36 and 37 of TSC2 gene were amplified by polymerase chain reaction and sequenced...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28283837/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-related-to-or-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-ii-angiogenesis-and-inflammation-related-molecular-pathways-tumor-associated-macrophages-and-possible
#11
REVIEW
Yosef Laviv, Burkhard Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neurocutaneous manifestations as well as characteristic tumors. Neurofibromatosis type 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. A vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with these syndromes, related to NF2 and TSC, respectively. These tumors can present with an obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 11, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28275690/intestinal-epithelial-specific-mtorc1-activation-enhances-intestinal-adaptation-after-small-bowel-resection
#12
Lauren Barron, Raphael C Sun, Bola Aladegbami, Christopher R Erwin, Brad W Warner, Jun Guo
BACKGROUND & AIMS: Intestinal adaptation is a compensatory response to the massive loss of small intestine after surgical resection. We investigated the role of intestinal epithelial cell-specific mammalian target of rapamycin complex 1 (i-mTORC1) in intestinal adaptation after massive small bowel resection (SBR). METHODS: We performed 50% proximal SBR on mice to study adaptation. To manipulate i-mTORC1 activity, Villin-Cre(ER) transgenic mice were crossed with tuberous sclerosis complex (TSC)1(flox/flox) or Raptor(flox/flox) mice to inducibly activate or inactivate i-mTORC1 activity with tamoxifen...
March 2017: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28275556/selective-arterial-embolization-of-symptomatic-and-asymptomatic-renal-angiomyolipomas-a-retrospective-study-of-safety-outcomes-and-tumor-size-reduction
#13
Florian Bardin, Olivier Chevallier, Aurélie Bertaut, Emmanuel Delorme, Morgan Moulin, Pierre Pottecher, Lucy Di Marco, Sophie Gehin, Eric Mourey, Luc Cormier, Christiane Mousson, Marco Midulla, Romaric Loffroy
BACKGROUND: Angiomyolipoma (AML) is the most common renal benign tumor. Treatment should be considered for symptomatic patients or for those at risk for complications, especially retroperitoneal bleeding which is correlated to tumor size, grade of the angiogenic component and to the presence of tuberous sclerosis complex (TSC). This study reports our single-center experience with the use of selective arterial embolization (SAE) in the management of symptomatic and asymptomatic renal AMLs...
February 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/28270230/risk-factors-for-the-development-of-autism-spectrum-disorder-in-children-with-tuberous-sclerosis-complex-protocol-for-a-systematic-review
#14
Rebecca Mitchell, Sarah Barton, A Simon Harvey, Katrina Williams
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition, caused by mutations in either the TSC1 or TSC2 gene. It has widespread systemic manifestations and is associated with significant neurological morbidity. In addition to seizures and cerebral pathology including cortical tubers, subependymal nodules, subependymal giant cell astrocytoma and abnormal white matter, there are recognised neuropsychiatric difficulties including intellectual disability, autism spectrum disorder (ASD) and a range of learning and behaviour problems, recently conceptualised as "tuberous sclerosis-associated neuropsychiatric disorders", or "TAND"...
March 8, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28265819/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-i-historical-observations-and-clinical-perspectives-on-the-etiology-of-increased-csf-protein-levels-csf-clotting
#15
REVIEW
Yosef Laviv, Burkhard S Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neuro-cutaneous manifestations as well as disease characteristic tumors. Neurofibromatosis 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. Vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with NF2 and TSC, respectively. These tumors can present with obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 7, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28265590/laparoscopic-retroperitoneal-nephron-sparing-surgery-without-renal-artery-clamping-with-preoperative-selective-arterial-embolization-for-management-of-right-renal-angiomyolipoma-of-diameter-10-cm-a-case-report
#16
Tatsuhiko Hoshii, Shinichi Morita, Yohei Ikeda, Go Hasegawa, Tsutomu Nishiyama
A 38-year-old female without the tuberous sclerosis complex was diagnosed with right renal angiomyolipoma of 10 cm in diameter. She underwent laparoscopic retroperitoneal nephron-sparing surgery without renal artery clamping with preoperative selective arterial embolization to avoid a significant risk of hemorrhage and the damage of the renal function during nephron-sparing surgery. The tumor was resected completely. The time taken to complete the procedure was 4 hours 11 minutes and blood loss was 780 mL...
2017: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/28265043/author-response-sirolimus-for-epilepsy-in-children-with-tuberous-sclerosis-complex-a-randomized-controlled-trial
#17
Marie-Claire Y de Wit, Iris E Overwater
No abstract text is available yet for this article.
March 7, 2017: Neurology
https://www.readbyqxmd.com/read/28265042/letter-re-sirolimus-for-epilepsy-in-children-with-tuberous-sclerosis-complex-a-randomized-controlled-trial
#18
Li-Ping Zou, Yu-Tian Liu
No abstract text is available yet for this article.
March 7, 2017: Neurology
https://www.readbyqxmd.com/read/28263820/patterns-of-disease-monitoring-and-treatment-among-patients-with-tuberous-sclerosis-complex-related-angiomyolipomas
#19
Elyse Swallow, Sarah King, Jinlin Song, Miranda Peeples, James E Signorovitch, Zhimei Liu, Judith Prestifilippo, Michael Frost, Michael Kohrman, Bruce Korf, Darcy Krueger, Steven Sparagana
OBJECTIVE: To use the tuberous sclerosis complex (TSC) Natural History Database to describe monitoring and treatment patterns among patients with TSC-related angiomyolipomas (AMLs). METHODS: This study used the TSC Natural History Database, which contains demographics, affected areas, diagnosis, and treatments for more than 1300 patients with TSC enrolled in 16 participating clinics during 2006-2013. Patient characteristics, AML monitoring tests, and AML treatments were assessed...
March 2, 2017: Urology
https://www.readbyqxmd.com/read/28258506/persistent-hepatitis-e-infection-in-a-patient-with-tuberous-sclerosis-complex-treated-with-everolimus-a-case-report
#20
Wobke E M van Dijk, Menno A M H Vergeer, Joop E Arends
INTRODUCTION: The incidence of hepatitis E (HEV) genotype 3 is rising in developed countries. HEV infections are usually self-limiting, but can become chronic in immunocompromised patients. This might lead to rapid fibrosis development even resulting in cirrhosis. Chronic HEV is mainly described in patients after solid-organ or hematological transplantations. We present the first case of HEV infection in a patient with tuberous sclerosis complex (TSC) treated with everolimus, a mammalian target of rapamycin (mTOR) inhibitor...
March 3, 2017: Infectious Diseases and Therapy
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