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Tuberous Sclerosis Complex

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https://www.readbyqxmd.com/read/28918796/erratum-to-%C3%A2-recommendations-for-the-multidisciplinary-management-of-tuberous-sclerosis-complex%C3%A2-medclin-barc-147-5-2016-211-216
#1
Alfons Macaya, Roser Torra
No abstract text is available yet for this article.
October 11, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28905429/intermittent-everolimus-administration-for-renal-angiomyolipoma-associated-with-tuberous-sclerosis-complex
#2
Takashi Hatano, Hiroyuki Inaba, Katsuhisa Endo, Shin Egawa
OBJECTIVES: To evaluate the effects and utility of intermittent everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex. METHODS: We investigated a total of 26 patients with tuberous sclerosis complex who had angiomyolipoma ≥4 cm in diameter. For each patient, we analyzed the reduction in the size of the angiomyolipoma, the change in size after everolimus withdrawal, the size reduction rate on everolimus readministration and adverse events caused by everolimus...
September 14, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28905424/editorial-comment-to-intermittent-everolimus-administration-for-renal-angiomyolipoma-associated-with-tuberous-sclerosis-complex
#3
Suguru Shirotake, Koshiro Nishimoto
No abstract text is available yet for this article.
September 14, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28903387/hyperactivated-mtorc1-downregulation-of-foxo3a-pdgfr%C3%AE-akt-cascade-restrains-tuberous-sclerosis-complex-associated-tumor-development
#4
Li Wang, Zhaofei Ni, Yujie Liu, Shuang Ji, Fuquan Jin, Keguo Jiang, Junfang Ma, Cuiping Ren, Hongbing Zhang, Zhongdong Hu, Xiaojun Zha
Hyperactivation of mammalian target of rapamycin complex 1 (mTORC1), caused by loss-of-function mutations in either the TSC1 or TSC2 gene, leads to the development of tuberous sclerosis complex (TSC), a benign tumor syndrome with multiple affected organs. mTORC1-mediated inhibition of AKT constrains the tumor progression of TSC, but the exact mechanisms remain unclear. Herein we showed that loss of TSC1 or TSC2 downregulation of platelet-derived growth factor receptor α (PDGFRα) expression was mediated by mTORC1...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28902337/multimodal-imaging-of-astrocytic-hamartomas-associated-with-tuberous-sclerosis
#5
Stephen G Schwartz, J William Harbour
An 11-year-old patient was diagnosed with tuberous sclerosis complex based on retinal and cutaneous findings and confirmed by genetic testing. Spectral-domain optical coherence tomography (OCT) demonstrated subtle solid intraretinal tumors that focally replaced the inner retina and displaced the outer retinal layers. OCT angiography demonstrated prominent intrinsic vascularity but no feeder vessels. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:756-758.].
September 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28899738/angiomyomatous-hamartoma-of-lymph-nodes-revisited-clinico-pathologic-study-of-21-cases-emphasizing-its-distinction-from-lymphangioleiomyomatosis-of-lymph-nodes
#6
Michelle Moh, Ankur Sangoi, Joseph T Rabban
Angiomyomatous hamartoma of lymph nodes (AMH-LN) is an uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma and adipocytes, most commonly affecting inguinal LN. A similar constellation of cell types constitutes various members of the perivascular epithelioid cell tumor (PEComa) family, including lymphangioleiomyomatosis (LAM) which can involve LN in women. Because some LN-LAM patients have tuberous sclerosis complex (TSC) and/or other PEComa family lesions, it is clinically relevant to distinguish LN-LAM from AMH-LN...
September 9, 2017: Human Pathology
https://www.readbyqxmd.com/read/28898190/renal-tumors-of-childhood-radiologic-pathologic-correlation-part-2-the-2nd-decade-from-the-radiologic-pathology-archives
#7
Ellen M Chung, Grant E Lattin, Kimberly E Fagen, Andrew M Kim, Michael A Pavio, Adam J Fehringer, Richard M Conran
Malignant renal tumors account for 7% of childhood cancers, and Wilms tumors are by far the most common-but not in older children and adolescents. Among individuals in the latter half of their 2nd decade of life, renal cell carcinoma (RCC) is more common than Wilms tumor. The histopathologic spectrum of RCCs in children differs from that in adults. The most common subtype of RCC in children and adolescents is Xp11.2 translocation RCC, which is distinguished by hyperattenuation at nonenhanced computed tomography, a defined capsule, and associated retroperitoneal lymphadenopathy...
September 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28895825/management-of-a-rare-disease-population-a-model-for-identifying-a-patient-population-with-tuberous-sclerosis-complex
#8
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/28895704/-novel-mutation-in-tsc2-gene-in-pediatric-patient-with-clinical-diagnosis-of-tuberous-sclerosis
#9
Gabriela Caicedo-Herrera, Estephania Candelo, Harry Pachajoa
Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant disorder that results from mutations within either the TSC1 gene or the TSC2 gene. Diagnosis is based on well-established clinical criteria or genetic criteria. Clinical features are highly variable and could be developing over the life. We present a case of TSC with a molecular test that identified a novel variant in TSC2 gene. It is a sporadic missense mutation which has not been previously reported in the literature. It is caused by premature termination of protein translation and results in the production of truncated and non-functional proteins...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28894028/mtorc1-regulates-both-general-autophagy-and-mitophagy-induction-after-oxidative-phosphorylation-uncoupling
#10
Alberto Bartolomé, Ana García-Aguilar, Shun-Ichiro Asahara, Yoshiaki Kido, Carlos Guillén, Utpal B Pajvani, Manuel Benito
The mechanistic target of rapamycin complex 1 (MTORC1) is a critical negative regulator of general autophagy. We hypothesized that MTORC1 may specifically regulate autophagic clearance of damaged mitochondria. To test this, we used cells lacking tuberous sclerosis complex 2 (TSC2 -/-), which show constitutive MTORC1 activation. TSC2 -/- cells show MTORC1-dependent impaired autophagic flux after chemical uncoupling of mitochondria, increased mitochondrial protein aging and accumulation of p62/SQSTM1 positive mitochondria...
September 11, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28892148/mtor-mutations-in-smith-kingsmore-syndrome-four-additional-patients-and-a-review
#11
G Gordo, J Tenorio, P Arias, F Santos-Simarro, S García-Miñaur, J C Moreno, J Nevado, E Vallespin, L Rodriguez-Laguna, R de Mena, I Dapia, M Palomares, Á Del Pozo, K Ibañez, J C Silla, E Barroso, V L Ruiz Pérez, V Martinez-Glez, P Lapunzina
Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA: 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been detected in all patients. The mTOR gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K-AKT-mTOR) is highly regulated and critical for cell survival and apoptosis...
September 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28891034/rheb1-insufficiency-in-aged-male-mice-is-associated-with-stress-induced-seizures
#12
Qi Tian, Pavel Gromov, Joachim H Clement, Yingming Wang, Marc Riemann, Falk Weih, Xiao-Xin Sun, Mu-Shui Dai, Lev M Fedorov
The mechanistic target of rapamycin (mTOR), a protein kinase, is a central regulator of mammalian metabolism and physiology. Protein mTOR complex 1 (mTORC1) functions as a major sensor for the nutrient, energy, and redox state of a cell and is activated by ras homolog enriched in brain (RHEB1), a GTP-binding protein. Increased activation of mTORC1 pathway has been associated with developmental abnormalities, certain form of epilepsy (tuberous sclerosis), and cancer. Clinically, those mTOR-related disorders are treated with the mTOR inhibitor rapamycin and its rapalogs...
September 10, 2017: GeroScience
https://www.readbyqxmd.com/read/28888969/mtor-related-neuropathology-in-mutant-tsc2-zebrafish-phenotypic-transcriptomic-and-pharmacological-analysis
#13
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/28888564/everolimus-for-the-treatment-of-tuberous-sclerosis-complex-related-cardiac-rhabdomyomas-in-pediatric-patients
#14
Nagib Dahdah
No abstract text is available yet for this article.
September 6, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28888335/dramatic-relapse-of-seizures-after-everolimus-withdrawal
#15
Alessia Mingarelli, Aglaia Vignoli, Francesca La Briola, Angela Peron, Lucio Giordano, Giuseppe Banderali, Maria Paola Canevini
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by deregulation of the mTOR pathway, and represents one of the leading genetic causes of epilepsy. mTOR inhibitors (Sirolimus and Everolimus) are currently approved only for the treatment of growing subependymal giant cell astrocytomas, renal angiomyolipomas and lymphangioleiomyomatosis in TSC. However, preclinical and clinical evidence supports their potential role in effectively treating TSC-associated epilepsy, but no consensus on its use in seizures has been reached yet and there are few data on epilepsy outcome after the suspension of mTOR inhibitors treatment...
August 3, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28887784/pancreatic-neuroendocrine-tumor-in-a-patient-with-a-tsc1-variant-case-report-and-review-of-the-literature
#16
REVIEW
Parisa Mortaji, Katherine T Morris, Von Samedi, Steven Eberhardt, Shawnia Ryan
The majority of pancreatic neuroendocrine tumors (PNETs) are sporadic while 10-15% are attributable to one of several familial cancer syndromes. Hereditary forms are more commonly associated with Multiple Endocrine Neoplasia Type I and von Hippel Lindau Syndrome. However, patients with Tuberous sclerosis complex also have an increased incidence of PNETs. More often this has been reported in patients with TSC2 variants. In this case report, we summarize the literature regarding PNETs associated with Tuberous sclerosis complex, as well as present a case of a patient with a TSC1 variant and a PNET...
September 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28868251/maternal-and-fetal-tuberous-sclerosis-do-we-know-enough-as-an-obstetrician
#17
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
#18
Tao Jiang, Jiang Du, Raynald Liu, Junmei Wang, Chunde Li
BACKGROUND: For patients with tuberous sclerosis complex (TSC) with large subependymal giant cell astrocytoma (SEGA), direct surgical resection remains the standard treatment. Rapamycin/everolimus were seldom used in these patients because of increased intracranial pressure and possibility of sudden death. CASE DESCRIPTION: Three TSC patients with large intracranial SEGA received oral rapamycin (0.5 mg/day) or everolimus (2.5 mg/day) prior to surgery. Tumor resection was subsequently performed...
August 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28859751/tuberous-sclerosis-complex-unusual-presentation-in-an-adult-patient
#19
Naveen Kansal Kansal
No abstract text is available yet for this article.
2017: Skinmed
https://www.readbyqxmd.com/read/28856172/implementing-a-multidisciplinary-approach-to-treating-tuberous-sclerosis-complex-a-case-report
#20
Tanjala T Gipson, Andrea Poretti
OBJECTIVE: Tuberous sclerosis complex is expressed throughout the body, resulting in a range of clinical manifestations that can be challenging to manage. RESULTS: The authors report a patient who presented at age 3.5 years with several suspected seizures and was diagnosed with tuberous sclerosis complex following the discovery of numerous bilateral cortical tubers and subependymal nodules on magnetic resonance imaging. Interdisciplinary, comprehensive care was recommended; this included ongoing surveillance to monitor for the development of tuberous sclerosis complex-associated conditions...
January 2017: Child neurology open
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