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    Clinical Characteristics of Connective Tissue Nevi in Tuberous Sclerosis Complex With Special Emphasis on Shagreen Patches.
    JAMA Dermatol 2017 Apr 26. Epub 2017 Apr 26.
    Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
    Importance: Patients with tuberous sclerosis complex (TSC) frequently develop collagenous connective tissue nevi. The prototypical lesion is a large shagreen patch located on the lower back, but some patients only manifest small collagenomas or have lesions elsewhere on the body. The ability to recognize these variable presentations can be important for the diagnosis of TSC. Read More

    Assessment of tumors in children with tuberous sclerosis: a single centre's experience.
    Turk Pediatri Ars 2017 Mar 1;52(1):30-34. Epub 2017 Mar 1.
    Clinic of Pediatric Cardiology, Ankara Children's Hematology and Oncology Education and Research Hospital, Ankara, Turkey.
    Aim: As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is overactivated in patients with tuberous sclerosis. Abnormal cell proliferation and differentiation is responsible for the growth several different tumors. Read More

    Cortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex.
    GMS Ophthalmol Cases 2017 19;7:Doc11. Epub 2017 Apr 19.
    Critical Care Department, Fundación Oftalmológica de Santander - FOSCAL, Bucaramanga, Colombia.
    Patients with retinal lesions related to tuberous sclerous complex (TSC) commonly have no impairment of visual acuity. We present a case of a 1-year-old Hispanic girl with TSC in which bilateral cortical blindness is documented. Read More

    Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay.
    Am J Pathol 2017 May;187(5):1177-1185
    Epilepsy Center, National Center of Neurology and Psychiatry, National Institute of Neuroscience, Kodaira, Japan; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Kodaira, Japan. Electronic address:
    The activation of phosphatidylinositol 3-kinase-AKTs-mammalian target of rapamycin cell signaling pathway leads to cell overgrowth and abnormal migration and results in various types of cortical malformations, such as hemimegalencephaly (HME), focal cortical dysplasia, and tuberous sclerosis complex. However, the pathomechanism underlying abnormal cell migration remains unknown. With the use of fetal mouse brain, we performed causative gene analysis of the resected brain tissues from a patient with HME and investigated the pathogenesis. Read More

    What's new with common genetic skin disorders?
    Minerva Pediatr 2017 Apr 20. Epub 2017 Apr 20.
    Department of Dermatology, Rochester, MN, USA -
    Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Read More

    Erratum to: Co2/Erbium:YAG/Dye Laser Combination: An Effective and Successful Treatment for Angiofibromas in Tuberous Sclerosis.
    Aesthetic Plast Surg 2017 Apr 19. Epub 2017 Apr 19.
    Department of Plastic and Reconstructive and Aesthetic Surgery, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.

    Transarterial embolization for renal angiomyolipomas: A single centre experience in 79 patients.
    J Int Med Res 2017 Apr 30;45(2):706-713. Epub 2017 Jan 30.
    Department of Interventional Radiology and Vascular Surgery, Peking University First Hospital, Beijing, China.
    Objective To evaluate the long-term efficacy and safety of selective arterial embolization (SAE) in the treatment of renal angiomyolipomas (AMLs). Methods This was a retrospective review of medical records and imaging findings from patients with renal AMLs who attended our clinic and received SAE between January 2007 and January 2014. Only patents with complete medical records, preoperative computed tomography scans using typical imaging and follow-up data were included. Read More

    Targeting protein homeostasis with nelfinavir/salinomycin dual therapy effectively induces death of mTORC1 hyperactive cells.
    Oncotarget 2017 Mar 15. Epub 2017 Mar 15.
    Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
    Uncontrolled cell growth in Tuberous Sclerosis Complex occurs due to inappropriate activation of mechanistic (mammalian) target of rapamycin complex 1 (mTORC1). The current therapy, rapamycin, produced promising clinical trial results, but patient tumours regrow if treatment is discontinued, revealing rapamycin has cytostatic properties rather than a cytotoxic effect. Taking advantage of the enhanced levels of endoplasmic reticulum (ER) stress present in TSC2-null cells, we investigated drug combinations producing a cytotoxic response. Read More

    Delayed Presentation of Tuberour Sclerosis Complex in Adult Women.
    J La State Med Soc 2017 Mar-Apr;169(2):46. Epub 2017 Apr 15.
    Department of Internal Medicine, University Hospitals and Clinics - LSU Health in Lafayette, LA.
    Introduction: Tuberous sclerosis complex (TSC); is an autosomal dominant disorder characterized by the formation of hamartomatous lesions in multiple organs, with a birth incidence of around one in 10,000. Although it usually manifests itself in early life, we present a case of an adult woman who we diagnosed with TSC.

    Case: A 27 year old woman presented to Emergency Department with worsening right flank pain and progressive dyspnea. Read More

    Tuberous Sclerosis Complex: A Review.
    Pediatr Ann 2017 Apr;46(4):e166-e171
    Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Read More

    Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment.
    Res Dev Disabil 2017 Apr 12;64:119-130. Epub 2017 Apr 12.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK. Electronic address:
    Even though self-injury and aggression are common in tuberous sclerosis complex (TSC), understanding of these behaviours in adults with TSC and intellectual disability (ID) is limited. Little is known about their frequency in comparison to other ID-related genetic disorders or their association with other TSC-Associated Neuropsychiatric Disorders (TAND). This study determined the caregiver-reported frequency of self-injury and aggression in adults with TSC plus ID in comparison to Down syndrome (DS) and Angelman syndrome (AS), and assessed demographic and behavioural characteristics associated with the occurrence of each behaviour in TSC. Read More

    Functional validation of the oncogenic cooperativity and targeting potential of tuberous sclerosis mutation in medulloblastoma using a MYC-amplified model cell line.
    Pediatr Blood Cancer 2017 Apr 14. Epub 2017 Apr 14.
    Department of Pediatrics, Doernbecher Children's Hospital, Papé Pediatric Research Institute, Oregon Health and Science University, Portland, Oregon.
    Medulloblastoma is the most common malignant brain tumor of childhood. To identify targetable vulnerabilities, we employed inhibitor screening that revealed mTOR inhibitor hypersensitivity in the MYC-overexpressing medulloblastoma cell line, D341. Concomitant exome sequencing unveiled an uncharacterized missense mutation, TSC2(A415V) , in these cells. Read More

    Early appearance of tuberous sclerosis complex on cerebral ultrasound in extremely preterm infant.
    J Neonatal Perinatal Med 2017 Apr 8. Epub 2017 Apr 8.
    Department of Paediatrics, Section Neonatology, Amalia Children Hospital, Radboud University Medical Centre Nijmegen, Groningen, The Netherlands.
    Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Diagnosis of early onset TSC in newborn infants is usually made by cardiac ultrasound because of circulatory problems due to cardiac rhabdomyoma. Early appearance of cortical tubers on cerebral ultrasound in newborn infants is very rare. Read More

    DEPDC5 as a potential therapeutic target for epilepsy.
    Expert Opin Ther Targets 2017 Apr 13:1-10. Epub 2017 Apr 13.
    a Epilepsy Research Centre, Department of Medicine , The University of Melbourne, Austin Health , Heidelberg , Victoria , Australia.
    Introduction: Dishevelled, Egl-10 and Pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a protein subunit of the GTPase-activating proteins towards Rags 1 (GATOR1) complex. GATOR1 is a recently identified modulator of mechanistic target of rapamycin (mTOR) activity. mTOR is a key regulator of cell proliferation and metabolism; disruption of the mTOR pathway is implicated in focal epilepsy, both acquired and genetic. Read More

    Moderate lifelong overexpression of tuberous sclerosis complex 1 (TSC1) improves health and survival in mice.
    Sci Rep 2017 Apr 11;7(1):834. Epub 2017 Apr 11.
    Greehey Children's Cancer Research Institute, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, San Antonio, Texas, 78229, USA.
    The tuberous sclerosis complex 1/2 (TSC1/2) is an endogenous regulator of the mechanistic target of rapamycin (mTOR). While mTOR has been shown to play an important role in health and aging, the role of TSC1/2 in aging has not been fully investigated. In the current study, a constitutive TSC1 transgenic (Tsc1 (tg) ) mouse model was generated and characterized. Read More

    [Analysis of TSC gene mutations in five patients with tuberous sclerosis complex].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Apr;34(2):164-168
    Department of Dermatology, the Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, China.
    Objective: To identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC).

    Methods: For five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing.

    Results: For one family, a novel missense mutation c. Read More

    Tuberous sclerosis complex in the Western Cape, South Africa: The clinical presentation features.
    S Afr Med J 2017 Mar 29;107(4):295-298. Epub 2017 Mar 29.
    Department of Paediatric Neurology, Red Cross War Memorial Children's Hospital, University of Cape Town, South Africa; and Department of Paediatrics, School of Medicine, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
    Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the presenting features of children with TSC in Cape Town, South Africa. A cross-sectional study was conducted at a TSC clinic, and clinical features at presentation were prospectively collected. Read More

    TCS2 Increases Olaquindox-Induced Apoptosis by Upregulation of ROS Production and Downregulation of Autophagy in HEK293 Cells.
    Molecules 2017 Apr 7;22(4). Epub 2017 Apr 7.
    College of Veterinary Medicine, China Agricultural University, Yuanmingyuan West Road No. 2, Haidian District, Beijing 100193, China.
    Olaquindox, a feed additive, has drawn public attention due to its potential mutagenicity, genotoxicity, hepatoxicity and nephrotoxicity. The purpose of this study was to investigate the role of tuberous sclerosis complex (TSC2) pathways in olaquindox-induced autophagy in human embryonic kidney 293 (HEK293) cells. The results revealed that olaquindox treatment reduced the cell viability of HEK293 cells and downregulated the expression of TSC2 in a dose- and time-dependent manner. Read More

    Vagus nerve stimulation: Surgical technique of implantation and revision and related morbidity.
    Epilepsia 2017 Apr;58 Suppl 1:85-90
    Department of Neurosurgery, Anna Meyer Hospital, University of Firenze, Firenze, Italy.
    Indications for vagus nerve stimulation (VNS) therapy include focal, multifocal epilepsy, drop attacks (tonic/atonic seizures), Lennox-Gastaut syndrome, tuberous sclerosis complex (TSC)-related multifocal epilepsy, and unsuccessful resective surgery. Surgical outcome is about 50-60% for seizures control, and may also improve mood, cognition, and memory. On this basis, VNS has also been proposed for the treatment of major depression and Alzheimer's' disease. Read More

    Recent Advances and Challenges of mTOR Inhibitors Use in the Treatment of Patients with Tuberous Sclerosis Complex.
    Oxid Med Cell Longev 2017 12;2017:9820181. Epub 2017 Mar 12.
    Laboratory of Pharmacology & Experimental Therapeutics, Institute for Biomedical Imaging and Life Sciences (IBILI), Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Centre for Neuroscience and Cell Biology-Institute for Biomedical Imaging and Life Sciences (CNC.IBILI) Research Consortium, University of Coimbra, Coimbra, Portugal.
    Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of benign, noninvasive, and tumor-like lesions called hamartomas that can affect multiple organ systems and are responsible for the clinical features of the disease. In the majority of cases, TSC results from mutations in the TSC1 and TSC2 genes, leading to the overactivation of the mammalian target of rapamycin (mTOR) signalling pathway, which controls several cell functions, including cell growth, proliferation, and survival. The establishment of a connection between TSC and mTOR led to the clinical use of drugs known as mTOR inhibitors (like rapamycin, also known as sirolimus and everolimus), which are becoming an increasingly interesting tool in the management of TSC-associated features, such as subependymal giant cell astrocytomas, renal angiomyolipomas, and also epilepsy. Read More

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
    Brain 2017 Mar 4. Epub 2017 Mar 4.
    The Danish Epilepsy Centre, Dianalund, Denmark.
    Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. Read More

    Combined Targeting of mTOR and Akt Using Rapamycin and MK-2206 in The Treatment of Tuberous Sclerosis Complex.
    J Cancer 2017 11;8(4):555-562. Epub 2017 Feb 11.
    Pulmonary Department, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
    Tuberous sclerosis complex (TSC), caused by loss-of-function mutations in the TSC1 or TSC2 genes, is an autosomal dominant disease characterized by benign tumor formation in multiple organs. Hyperactivation of mammalian target of rapamycin (mTOR) is the primary alteration underlying TSC tumor. Thus, rapamycin, as an mTOR specific inhibitor, has been assumed as a potential drug for the treatment of TSC. Read More

    Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome.
    Front Neurol 2017 17;8:87. Epub 2017 Mar 17.
    Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine , Baltimore, MD , USA.
    Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. Read More

    Natural history of patients with tuberous sclerosis complex-related renal angiomyolipoma.
    Curr Med Res Opin 2017 Mar 30:1-13. Epub 2017 Mar 30.
    e LeBonheur Children's Hospital and St. Jude Children's Research Hospital , Memphis , TN , USA.
    Objective: To examine temporal relationships between tuberous sclerosis complex (TSC) and renal angiomyolipoma diagnosis and outcomes, treatment, and healthcare utilization.

    Methods: Administrative data from the MarketScan® Commercial Database were used to select TSC-renal angiomyolipoma patients during 1/1/2000-3/31/2013. Patients were followed until the earliest of inpatient death or end of enrollment or study. Read More

    Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role.
    Arch Dis Child 2017 Mar 28. Epub 2017 Mar 28.
    MedStar Washington Hospital Center/MedStar Georgetown University Hospital, Washington, DC, USA.
    Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediatricians can be a catalyst for facilitating early implementation of treatment strategies and establishing appropriate follow-up care. Read More

    Time-matched analysis of DNA adduct formation and early gene expression as predictive tool for renal carcinogenesis in methylazoxymethanol acetate treated Eker rats.
    Arch Toxicol 2017 Mar 27. Epub 2017 Mar 27.
    Metabolism and Cancer, Institute for Diabetes and Obesity, Helmholtz Diabetes Center & German Center for Diabetes Research (DZD), Helmholtz Zentrum München, Neuherberg, Germany.
    Genotoxic carcinogens pose great hazard to human health. Uncertainty of current risk assessment strategies and long latency periods between first carcinogen exposure and diagnosis of tumors have raised interest in predictive biomarkers. Initial DNA adduct formation is a necessary step for genotoxin induced carcinogenesis. Read More

    Abnormal Neural Progenitor Cells Differentiated from Induced Pluripotent Stem Cells Partially Mimicked Development of TSC2 Neurological Abnormalities.
    Stem Cell Reports 2017 Apr 23;8(4):883-893. Epub 2017 Mar 23.
    Department of Neurology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R. China. Electronic address:
    Tuberous sclerosis complex (TSC) is a disease featuring devastating and therapeutically challenging neurological abnormalities. However, there is a lack of specific neural progenitor cell models for TSC. Here, the pathology of TSC was studied using primitive neural stem cells (pNSCs) from a patient presenting a c. Read More

    Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.
    Mol Genet Metab 2017 Apr 1;120(4):384-391. Epub 2017 Mar 1.
    Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
    TSC1 and TSC2 are genes mutated in the syndrome TSC (tuberous sclerosis complex). We describe a 3-generation family with 17 affected members, all presenting classic TSC features except renal manifestations. The disease segregates with a silent substitution in TSC2, c. Read More

    [Tuberous Sclerosis Complex Detected by Spontaneous Rupture of a Giant Renal Angiomyolipoma : A Case Report].
    Hinyokika Kiyo 2017 Mar;63(3):111-114
    The Department of Urology, Akita University Graduate School of Medicine.
    A woman in her 30s was admitted with abdominal pain and nausea. CT scan revealed a spontaneous rupture of the right giant renal angiomyolipoma, and trans-arterial embolization was performed successfully. With further examination, she was found to be affected with tuberous sclerosis complex (TSC) and she finally wastreated with everolimusfor prevention of recurrent spontaneous-rupture of renal angiomyolipoma. Read More

    Bilateral Birdshot Retinochoroiditis and Retinal Astrocytoma.
    Case Rep Ophthalmol Med 2017 21;2017:6586157. Epub 2017 Feb 21.
    Sunderland Eye Infirmary, Queen Alexandra Road, Sunderland SR2 9HP, UK.
    Background. This case highlights the importance of recognising multiple pathologies within the eye which may not necessarily be linked. Both birdshot retinochoroiditis and astrocytoma are rare conditions. Read More

    [Epithelioid angiomyolipoma of the kidney: About one case and malignant features evaluation].
    Ann Pathol 2017 Apr 17;37(2):182-187. Epub 2017 Mar 17.
    Service d'anatomie et cytologie pathologiques, hospices civils de Lyon, CHU Lyon Sud, université Lyon 1, chemin du Grand-Revoyet, 69495 Pierre-Bénite cedex, France. Electronic address:
    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. Read More

    Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.
    Clin J Am Soc Nephrol 2017 Mar 16. Epub 2017 Mar 16.
    Renal Disease and Hypertension, Pediatric Nephrology and Hypertension, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas
    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. Read More

    [Two novel TSC2 frameshift mutations in tuberous sclerosis complex].
    Zhongguo Dang Dai Er Ke Za Zhi 2017 Mar;19(3):308-312
    Prenatal Diagnosis Center, Shenzhen Maternity and Child Health Care Hospital, Southern Medical University, Shenzhen, Guangdong 518000, China.
    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. Read More

    Onychogryphosis in tuberous sclerosis complex: an unusual feature.
    An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):116-118
    The 251st Hospital of Chinese PLA - Zhangjiakou, China.
    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. Read More

    Imaging of tuberous sclerosis complex: a pictorial review.
    Radiol Bras 2017 Jan-Feb;50(1):48-54
    MD, PhD, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
    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. Read More

    Dengue virus activates the AMP kinase-mTOR axis to stimulate a proviral lipophagy.
    J Virol 2017 Mar 15. Epub 2017 Mar 15.
    Department of Microbiology, The University of Chicago, Chicago, IL 60637
    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. Read More

    Warming up to New Possibilities with the Capsaicin Receptor TRPV1: mTOR, AMPK, and Erythropoietin.
    Curr Neurovasc Res 2017 Mar 13. Epub 2017 Mar 13.
    Cellular and Molecular Signaling Newark, New Jersey 07101. United States.
    Background: Transient receptor potential (TRP) channels are a superfamily of ion channels termed after the trp gene in Drosophila that are diverse in structure and control a wide range of biological functions including cell development and growth, thermal regulation, and vascular physiology. Of significant interest is the transient receptor potential cation channel subfamily V member 1 (TRPV1) receptor, also known as the capsaicin receptor and the vanilloid receptor 1, that is a non-selective cation channel sensitive to a host of external stimuli including capsaicin and camphor, venoms, acid/basic pH changes, and temperature.

    Methods: Given the multiple modalities that TRPV1 receptors impact in the body, we examined and discussed the role of these receptors in vasomotor control, metabolic disorders, cellular injury, oxidative stress, apoptosis, autophagy, and neurodegenerative disorders and their overlap with other signal transduction pathways that impact trophic factors. Read More

    [Diagnostic criteria and management options for renal angiomyolipoma: about 8 cases].
    Pan Afr Med J 2016 22;25:182. Epub 2016 Nov 22.
    Service d'Urologie, CHU Hassan II, Fès, Maroc.
    Renal angiomyolipoma is a benign renal tumor with a fatty component. We here report a series of 8 cases in order to describe diagnostic criteria and management options for renal angiomyolipoma. We studied 8 cases of renal angiomyolipomas over a 4-year period. Read More

    Astrocytic tumor with large cells and worrisome features in two patients with tuberous sclerosis: drastically different diagnoses and prognoses.
    Clin Neuropathol 2017 May/Jun;36 (2017)(3):102-107
    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. Read More

    mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders.
    Orphanet J Rare Dis 2017 Mar 14;12(1):51. Epub 2017 Mar 14.
    Department of Neurology, Tuberous Sclerosis Clinic, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
    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. Read More

    [Clinical and genetic study patients with tuberous sclerosis complex].
    Rev Chil Pediatr 2017 Feb;88(1):41-49
    Programa de Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
    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. Read More

    TSC2/Rheb signaling mediates ERK-dependent regulation of mTORC1 activity in C2C12 myoblasts.
    FEBS Open Bio 2017 Mar 30;7(3):424-433. Epub 2017 Jan 30.
    Graduate School of Comprehensive Human Sciences University of Tsukuba Ibaraki Japan.
    The enhanced rate of protein synthesis in skeletal muscle cells results in a net increase in total protein content that leads to skeletal muscle growth/hypertrophy. The mitogen-activated protein kinase kinase (MEK)/extracellular signal-regulated kinase (ERK)-dependent regulation of the activity of mechanistic target of rapamycin (mTOR) and subsequent protein synthesis has been suggested as a regulatory mechanism; however, the exact molecular processes underlying such a regulation are poorly defined. The purpose of this study was to investigate regulatory mechanisms involved in the MEK/ERK-dependent pathway leading to mTORC1 activation in skeletal muscle cells. Read More

    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 therapeutic implications: a comprehensive review.
    Neurosurg Rev 2017 Mar 11. Epub 2017 Mar 11.
    Department of Surgery, Division of Neurosurgery, Beth Israel Deaconess Medical Center, Harvard Medical School, West Campus, Lowry Medical Office Building, Suite 3B, 110 Francis St, Boston, MA, 02215, USA.
    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. Read More

    Intestinal Epithelial-Specific mTORC1 Activation Enhances Intestinal Adaptation After Small Bowel Resection.
    Cell Mol Gastroenterol Hepatol 2017 Mar 10;3(2):231-244. Epub 2016 Dec 10.
    Division of Pediatric Surgery, St. Louis Children's Hospital, Department of Surgery, Washington University School of Medicine, St. Louis, Missouri.
    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. Read More

    Selective arterial embolization of symptomatic and asymptomatic renal angiomyolipomas: a retrospective study of safety, outcomes and tumor size reduction.
    Quant Imaging Med Surg 2017 Feb;7(1):8-23
    Department of Vascular and Interventional Radiology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France;; LE2I UMR CNRS 6306, Arts et Métiers, University of Bourgogne Franche-Comté, Dijon, France.
    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. Read More

    PPARG is central to the initiation and propagation of human angiomyolipoma, suggesting its potential as a therapeutic target.
    EMBO Mol Med 2017 Apr;9(4):508-530
    Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel
    Angiomyolipoma (AML), the most common benign renal tumor, can result in severe morbidity from hemorrhage and renal failure. While mTORC1 activation is involved in its growth, mTORC1 inhibitors fail to eradicate AML, highlighting the need for new therapies. Moreover, the identity of the AML cell of origin is obscure. Read More

    Risk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review.
    Syst Rev 2017 Mar 8;6(1):49. Epub 2017 Mar 8.
    Developmental Medicine, The Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia.
    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". Read More

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