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https://www.readbyqxmd.com/read/28212107/rheb-in-neuronal-degeneration-regeneration-and-connectivity
#1
Veena Nambiar Potheraveedu, Miriam Schöpel, Raphael Stoll, Rolf Heumann
The small GTPase Rheb was originally detected as an immediate early response protein whose expression was induced by NMDA-dependent synaptic activity in the brain. Rheb's activity is highly regulated by its GTPase activating protein (GAP), the tuberous sclerosis complex protein, which stimulates the conversion from the active, GTP-loaded into the inactive, GDP-loaded conformation. Rheb has been established as an evolutionarily conserved molecular switch protein regulating cellular growth, cell volume, cell cycle, autophagy, and amino acid uptake...
February 17, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/28211972/tsc2-c-1864c-t-variant-associated-with-mild-cases-of-tuberous-sclerosis-complex
#2
Laura S Farach, William T Gibson, Steven P Sparagana, Mark Nellist, Connie T R M Stumpel, Marja Hietala, Elliott Friedman, Deborah A Pearson, Susan P Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup
Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28203158/a-28-year-old-male-patient-with-nail-tumors-skin-lesions-and-epilepsy
#3
Deepak M W Balak, Bernard A Zonnenberg, Juliette M J Spitzer-Naaijkens, Mieke M Hulshof
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of benign hamartomas in multiple organs. Most patients with TSC exhibit cutaneous manifestations. METHODS: We report a 28-year-old patient with multiple pink papules at the proximal nail fold of several toes. RESULTS: Histopathological analysis of a biopsy of a papule was consistent with an ungual fibroma. Histopathological analysis of a biopsy of an elevated skin-colored plaque at the lower back was diagnostic for a Shagreen patch...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28202529/aberrant-syk-kinase-signaling-is-essential-for-tumorigenesis-induced-by-tsc2-inactivation
#4
Ye Cui, Wendy K Steagall, Anthony Lamattina, Gustavo Pacheco-Rodriguez, Mario Stylianou, Pranav Kidambi, Benjamin Stump, Fernanda Golzarri, Ivan O Rosas, Carmen Priolo, Elizabeth P Henske, Joel Moss, Souheil El-Chemaly
Somatic or germline mutations in the tuberous sclerosis complex (TSC) tumor suppressor genes are associated closely with the pathogenesis of lymphangioleiomyomatosis (LAM), a rare and progressive neoplastic disease that predominantly affects women in their childbearing years. Serum levels of the lymphangiogeneic growth factor VEGF-D are elevated significantly in LAM. However, there are gaps in knowledge regarding VEGF-D dysregulation and its cellular origin in LAM. Here we show that increased expression and activation of the tyrosine kinase Syk in TSC2-deficient cells and pulmonary nodules from LAM patients contributes to tumor growth...
February 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28202028/management-of-everolimus-associated-adverse-events-in-patients-with-tuberous-sclerosis-complex-a-practical-guide
#5
REVIEW
Mark Davies, Anurag Saxena, John C Kingswood
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs) and for subependymal giant astrocytoma (SEGA) in both adults and children, based on data from the EXIST-1 and EXIST-2 trials. However, due to the historical predominance of everolimus in the oncology setting, some physicians who treat TSC patients may be unfamiliar with everolimus-associated adverse events (AEs) and appropriate management strategies...
February 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28197035/giant-renal-angiomyolipoma-masquerading-as-a-wilms-tumor
#6
Anjan Kumar Dhua, Abhishek Ranjan, Sandeep Agarwala, Veereshwar Bhatnagar, Sandeep R Mathur, Kandasamy Devasenathipathy
Renal Angiomyolipoma (AML) is not commonly seen in the pediatric age group other than patients of tuberous sclerosis where in they can have renal AMLs within the first decade with bilateral in involvement. Diagnosis of renal AML can generally be made by the current radiological modalities in the appropriate clinical setting, but it can be mistaken for other tumors when it is large and has low-fat content. Herein we report a case of giant renal AML that was initially misdiagnosed as a Wilms tumor in a 12-year-old girl...
January 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28183733/neuronal-ctgf-ccn2-negatively-regulates-myelination-in-a-mouse-model-of-tuberous-sclerosis-complex
#7
Ebru Ercan, Juliette M Han, Alessia Di Nardo, Kellen Winden, Min-Joon Han, Leonie Hoyo, Afshin Saffari, Andrew Leask, Daniel H Geschwind, Mustafa Sahin
Disruption of myelination during development has been implicated in a range of neurodevelopmental disorders including tuberous sclerosis complex (TSC). TSC patients with autism display impairments in white matter integrity. Similarly, mice lacking neuronal Tsc1 have a hypomyelination phenotype. However, the mechanisms that underlie these phenotypes remain unknown. In this study, we demonstrate that neuronal TSC1/2 orchestrates a program of oligodendrocyte maturation through the regulated secretion of connective tissue growth factor (CTGF)...
February 9, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28181194/topical-rapamycin-for-facial-angiofibromas-in-a-child-with-tuberous-sclerosis-complex-tsc-a-case-report-and-long-term-follow-up
#8
Daniel Ebrahimi-Fakhari, Cornelia Sigrid Lissi Müller, Sascha Meyer, Marina Flotats-Bastardas, Thomas Vogt, Claudia Pföhler
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement including facial angiofibromas that often appear in early childhood. Here we report the case of a 12-year-old girl with widespread disfiguring facial angiofibromas that were successfully treated with topical rapamycin, a mTOR inhibitor. A sustained remission of skin lesions was documented in detail over a 3-year follow-up. This case highlights the fact that topical rapamycin is a useful option in treating TSC-associated skin lesions...
February 8, 2017: Dermatology and Therapy
https://www.readbyqxmd.com/read/28178598/novel-tsc1-and-tsc2-gene-mutations-in-chinese-patients-with-tuberous-sclerosis-complex
#9
Tingting Yu, Yingzhong He, Niu Li, Yunqing Zhou, Zhiping Wang, Qihua Fu, Jiwen Wang, Jian Wang
OBJECTIVE: The study was designed to identify pathogenic TSC1 or TSC2 gene mutations and provide solid evidence for the diagnosis of tuberous sclerosis complex (TSC). METHODS: 11 unrelated Chinese patients with TSC were investigated in the present study. Characteristic skin lesions such as hypomelanotic macules and the central nervous system features such as the epilepsy, cortical tubers and subependymal nodules were the most common symptoms that were observed in the patients...
February 1, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28174407/-operation-for-intracardiac-angiomyolipoma-report-of-a-case
#10
Hitoshi Endo, Makoto Ohno, Toshiya Kobayashi
Primary tumors of the heart are rare. In the literature operations for heart tumors account for 0.3% of all cardiac surgical procedures. We report a very rare case of primary cardiac angiomyolipoma. A 39-years-old man was admitted with chest discomfort. A mass was detected in the left ventricular myocardium by enhanced chest computed tomography. We performed resection of the intramyocardial tumor under cardiopulmonary bypass. Pathologic examination revealed a 4×3×3 cm, dome-shaped, solid tumor composed of a mixture of blood vessels, smooth muscle, and fat tissue...
February 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28162859/everolimus-alleviates-obstructive-hydrocephalus-due-to-subependymal-giant-cell-astrocytomas
#11
Romina Moavero, Andrea Carai, Angela Mastronuzzi, Sara Marciano, Federica Graziola, Federico Vigevano, Paolo Curatolo
BACKGROUND: Subependymal giant cell astrocytomas (SEGAs) are low-grade tumors affecting up to 20% of patients with tuberous sclerosis complex (TSC). Early neurosurgical resection has been the only standard treatment until few years ago when a better understanding of the molecular pathogenesis of TSC led to the use of mammalian target of rapamycin (mTOR) inhibitors. Surgical resection of SEGAs is still considered as the first line treatment in individuals with symptomatic hydrocephalus and intratumoral hemorrhage...
January 3, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28149746/multifocal-micronodular-pneumocyte-hyperplasia-mmph-in-a-patient-with-tuberous-sclerosis-evidence-for-long-term-stability
#12
Bibek S Pannu, Dinesh R Apala, Aditya Kotecha, Jennifer M Boland, Vivek N Iyer
Multifocal micronodular pneumocyte hyperplasia (MMPH) is rare entity seen mostly in patients with the tuberous sclerosis complex (TSC). We present the case of a 50 year old woman with TSC (confirmed TSC2 mutation) found to have multiple ground glass opacities with an upper lobe predominance on a screening chest CT. No abnormalities were detected in other viscera. A thoracoscopic lung biopsy obtained from right upper lobe confirmed the diagnosis of MMPH. There were no lesions suggestive of lymphangioleiomyomatosis (LAM) either on the chest CT or lung biopsy...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28145469/high-throughput-screen-detects-calcium-signaling-dysfunction-in-typical-sporadic-autism-spectrum-disorder
#13
Galina Schmunk, Rachel L Nguyen, David L Ferguson, Kenny Kumar, Ian Parker, J Jay Gargus
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders without any defined uniting pathophysiology. Ca(2+) signaling is emerging as a potential node in the genetic architecture of the disorder. We previously reported decreased inositol trisphosphate (IP3)-mediated Ca(2+) release from the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism - fragile X and tuberous sclerosis types 1 and 2 syndromes. We now extend those findings to a cohort of subjects with sporadic ASD without any known mutations...
February 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28127866/rare-familial-tsc2-gene-mutation-associated-with-atypical-phenotype-presentation-of-tuberous-sclerosis-complex
#14
Jonah Fox, Shay Ben-Shachar, Shimrit Uliel, Ran Svirsky, Hirotomo Saitsu, Naomichi Matsumoto, Aviva Fattal-Valevski
Tuberous sclerosis complex (TSC) is a neurocutaneous 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. We describe an 18-month-old boy who presented with seizures and a single hypopigmented macule. He did not meet consensus criteria for the clinical diagnosis of TSC. Exome sequencing revealed a heterozygous TSC2 mutation (c.5138G>A (p.Arg1713His)) in the patient. This heterozygous alteration was detected in his mother as well as several other maternal family members...
January 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28121223/using-tuberous-sclerosis-complex-to-understand-the-impact-of-mtorc1-signaling-on-mitochondrial-dynamics-and-mitophagy-in-neurons
#15
Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Mustafa Sahin
Constitutive activation of the MTOR pathway is a key feature of defects in the tuberous sclerosis complex and other genetic neurodevelopmental diseases, collectively referred to as MTORopathies. MTORC1 hyperactivity promotes anabolic cell functions such as protein synthesis, yet at the same time catabolic processes such as macroautophagy/autophagy are suppressed. Mitochondria are major substrates of autophagy; however, their role in MTORopathies remains largely undefined. Here, we review our recent study showing that several aspects of mitochondrial function, dynamics and turnover are critically impaired in neuronal models of TSC...
January 25, 2017: Autophagy
https://www.readbyqxmd.com/read/28112545/outcomes-of-angioembolization-and-nephrectomy-for-renal-angiomyolipoma-associated-with-tuberous-sclerosis-complex-a-real-world-us-national-study
#16
Peter Sun, Jamae Liu, Hearns Charles, John Hulbert, John Bissler
OBJECTIVE: To examine outcomes of clinical procedures for renal angiomyolipoma associated with tuberous sclerosis complex (TSC) based on US national health claims databases. METHODS: This retrospective cohort study selected two cohorts of TSC patients, who underwent either embolization or nephrectomy (either partial or complete) for renal angiomyolipoma in years from 2000 through 2011. Based on claims diagnosis codes, we estimated the prevalence rates of 10 angiomyolipoma-related conditions and 50 embolization- or nephrectomy-related conditions in the pre- and post-baseline periods respectively, and made cross-year and cross-period comparison of these rates with repeated measures analysis methods...
January 23, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#17
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28105182/long-lasting-stable-disease-with-mtor-inhibitor-treatment-in-a-patient-with-a-perivascular-epithelioid-cell-tumor-a-case-report-and-literature-review
#18
Ezequiel Flechter, Yaniv Zohar, Ludmila Guralnik, Maria Passhak, Gil Bar Sela
Perivascular epithelioid cell tumor (PEComa) of the small intestine is extremely rare, and there is no established treatment at the present time. In 10% of patients with PEComas, genetic alterations of tuberous sclerosis complex have been reported. These genetic alterations activate mechanistic target of rapamycin (mTOR) in AMP-activated protein kinase and Ras/mitogen-activated protein kinase pathways, resulting in high mTOR activity. Since 2007, several cases of treatment with mTOR inhibitors in advanced PEComa have been reported...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28101046/a-case-of-proliferative-retinopathy-complicated-with-tuberous-sclerosis-treated-by-vitreous-surgery
#19
Emika Nemoto, Seita Morishita, Mari Akashi, Ryohsuke Kohmoto, Masanori Fukumoto, Hiroyuki Suzuki, Takatoshi Kobayashi, Teruyo Kida, Jun Sugasawa, Tsunehiko Ikeda
We report a case of proliferative retinopathy complicated with retinal hamartoma in a tuberous sclerosis patient. This study involved a 16-year-old female patient who was diagnosed as having tuberous sclerosis at birth. Ophthalmic examination revealed retinal hamartoma surrounding the optic disc in both eyes. Vitreous surgery involving a vitrectomy and resection of the proliferative membranes was performed for proliferative retinopathy in her right eye. Postoperative fundus findings showed improvement and decreased exudative changes...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28099079/lymphangioleiomyomatosis-a-monogenic-model-of-malignancy
#20
Vera P Krymskaya, Francis X McCormack
Lymphangioleiomyomatosis (LAM) is a rare, low-grade, metastasizing neoplasm that arises from an unknown source, spreads via the lymphatics, and targets the lungs. All pulmonary structures become infiltrated with benign-appearing spindle and epithelioid cells (LAM cells) that express smooth-muscle and melanocyte-lineage markers, harbor mTOR-activating mutations in tuberous sclerosis complex (TSC) genes, and recruit abundant stromal cells. Elaboration of lymphangiogenic growth factors and matrix remodeling enzymes by LAM cells enables their access to lymphatic channels and likely drives the cystic lung remodeling that often culminates in respiratory failure...
January 14, 2017: Annual Review of Medicine
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