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    Alterations in expression levels of genes in p53-related pathways determined using RNA-Seq analysis in patients with breast cancer following CIK therapy.
    Oncol Lett 2017 Dec 18;14(6):7917-7922. Epub 2017 Oct 18.
    Department of Biochemistry and Molecular Biology, Wuhan University, Wuhan, Hubei 430072, P.R. China.
    The present study aimed at investigating the underlying molecular mechanisms for patients following cytokine-induced killer (CIK) therapy, particularly involving the alterations in p53-associated signaling pathways, to elucidate whether CIK therapy serves a function in cancer treatment. Samples of blood were collected from patients with breast cancer prior to and following CIK therapy. Two group samples were used for RNA sequencing (RNA-Seq) to determine the alterations in gene expression levels following CIK therapy and one for the quantitative polymerase chain reaction (qPCR), to analyze the reliability of RNA-Seq results. Read More

    Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report.
    Oncol Lett 2017 Dec 10;14(6):7099-7106. Epub 2017 Oct 10.
    Department of Urology, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning 116011, P.R. China.
    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. Read More

    Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees.
    Oncol Lett 2017 Dec 27;14(6):7085-7090. Epub 2017 Sep 27.
    Department of Urology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China.
    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. Read More

    Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex.
    Sci Rep 2018 Jan 17;8(1):953. Epub 2018 Jan 17.
    Department of Radiology, Charité, Charitéplatz 1, 10117, Berlin, Germany.
    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. Read More

    Using genetic buffering relationships identified in fission yeast to reveal susceptibilities in cells lacking hamartin or tuberin function.
    Biol Open 2018 Jan 17;7(1). Epub 2018 Jan 17.
    Department of Biology, The University of Western Ontario, London, ON N6A-5B7, Canada
    Tuberous sclerosis complex is an autosomal dominant disorder characterized by benign tumors arising from the abnormal activation of mTOR signaling in cells lacking TSC1 (hamartin) or TSC2 (tuberin) activity. To expand the genetic framework surrounding this group of growth regulators, we utilized the model eukaryote Schizosaccharomyces pombe to uncover and characterize genes that buffer the phenotypic effects of mutations in the orthologous tsc1 or tsc2 loci. Our study identified two genes: fft3 (encoding a DNA helicase) and ypa1 (encoding a peptidyle-prolyl cis/trans isomerase). Read More

    mTORC1 Inhibition Is an Effective Treatment for Sporadic Renal Angiomyolipoma.
    Kidney Int Rep 2018 Jan 12;3(1):155-159. Epub 2017 Aug 12.
    Pediatric Stem Cell Research Institute and Division of Pediatric Nephrology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
    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. Read More

    Effect of beta-agonists on LAM progression and treatment.
    Proc Natl Acad Sci U S A 2018 Jan 16. Epub 2018 Jan 16.
    Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892;
    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. We observed stabilization of forced expiratory volume in 1 s over time in patients receiving sirolimus and long-acting beta-agonists with short-acting rescue inhalers compared with patients receiving only sirolimus. Read More

    mTOR dysregulation and tuberous sclerosis-related epilepsy.
    Expert Rev Neurother 2018 Jan 17. Epub 2018 Jan 17.
    c Department of (Neuro)Pathology, Academic Medical Center , University of Amsterdam , Amsterdam , The Netherlands.
    Introduction: 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". Read More

    Möbius syndrome with cardiac rhabdomyomas.
    Ophthalmic Genet 2018 Jan 16:1-4. Epub 2018 Jan 16.
    b Department of Congenital Heart Center , University of Florida , Gainesville , FL , USA.
    Background: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis. Read More

    Factors associated with the number and size of renal angiomyolipomas in sporadic angiomyolipoma (sAML): a study of adult patients with sAML managed in a Dutch tertiary referral center.
    Int Urol Nephrol 2018 Jan 15. Epub 2018 Jan 15.
    Department of Internal Medicine, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands.
    Purpose: To describe the patient characteristics, treatments, disease monitoring, and kidney function of patients with sporadic angiomyolipoma (sAML), stratified by the number and size of renal angiomyolipomas (AMLs).

    Methods: Single-center retrospective analysis of patients with sAML treated from 1990 to 2015 in a dedicated clinic for inheritable tumor syndromes in a tertiary referral center from the Netherlands. Patients' first AML assessment at the clinic was defined as the index date. Read More

    The different faces of renal angiomyolipomas on radiologic imaging: a pictorial review.
    Br J Radiol 2018 Jan 12:20170533. Epub 2018 Jan 12.
    Department of Radiology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
    Renal angiomyolipoma (AML) is an uncommon renal tumour, generally composed of mature adipose tissue, dysmorphic blood vessels, and smooth muscle. Identification of intratumoural fat on unenhanced CT images (UECT) is the most reliable finding for establishing the diagnosis of renal AML. However, AMLs sometimes exhibit atypical findings, including cystic as well as solid forms; some of these variants overlap with the appearance of other renal tumours. Read More

    Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.
    Cell Res 2018 Jan 12. Epub 2018 Jan 12.
    Cancer Research Center and the Wohl Institute of Translational Medicine, the Chaim Sheba Medical Center, Tel Hashomer, Israel.
    Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the whole genomes of 20 brain samples and 80 non-brain samples, and characterized the retrotransposition landscape of patients affected by a variety of neurodevelopmental disorders including Rett syndrome, tuberous sclerosis, ataxia-telangiectasia and autism. We report that the number of retrotranspositions in brain tissues is higher than that observed in non-brain samples and even higher in pathologic vs normal brains. Read More

    Fibroma-like PEComa: A Tuberous Sclerosis Complex-related Lesion.
    Am J Surg Pathol 2018 Jan 10. Epub 2018 Jan 10.
    Departments of Pathology.
    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. Read More

    Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
    Genes Brain Behav 2018 Jan 4. Epub 2018 Jan 4.
    Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University and Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
    Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We performed targeted next-generation sequencing in 70 patients with epileptic encephalopathies. The likely pathogenicity of variants in candidate genes was evaluated by American College of Medical Genetics and Genomics (ACMG) scoring taken together with the accepted clinical presentation. Read More

    Prenatal and Postnatal Diagnosis of Rhabdomyomas and Tuberous Sclerosis Complex by Ultrafast and Standard MRI.
    Indian J Pediatr 2018 Jan 9. Epub 2018 Jan 9.
    Department of Radiology, Shanghai Children's Medical Center, 1678 Dongfang Rd., Shanghai, 200127, China.
    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. Read More

    Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes.
    Hered Cancer Clin Pract 2018 5;16. Epub 2018 Jan 5.
    Department of Neurosurgery, Universitair Ziekenhuis Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
    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. Read More

    Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.
    Croat Med J 2017 Dec;58(6):416-423
    Zlatko Trobonjača, Department of Physiology and Immunology, University of Rijeka School of Medicine, Braće Branchetta 20, 51000 Rijeka, Croatia,
    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. Read More

    Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders.
    Ann Clin Transl Neurol 2017 Dec 12;4(12):877-887. Epub 2017 Nov 12.
    Department of NeurologyBoston Children's HospitalHarvard Medical SchoolBostonMassachusetts.
    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. Read More

    Tuberous sclerosis presenting as neonatal cyanosis because of rhabdomyoma causing tricuspid valve obstruction needing a Blalock-Taussig shunt.
    J Saudi Heart Assoc 2018 Jan 21;30(1):66-68. Epub 2017 Apr 21.
    Prince Rashid Hospital, Pediatrics, Royal Medical Services, Irbid, Jordan.
    We report a newborn female baby who presented at 6 hours of age with cyanosis without any signs of respiratory distress. Cardiovascular and systemic examination was unremarkable apart from cyanosis (saturation 75%). An echocardiogram showed multiple echogenic and homogeneous masses in the interventricular septum, one of which was big and protruding through the tricuspid valve causing right ventricular inflow obstruction. Read More

    Tsc1-dependent transcriptional programming of dendritic cell homeostasis and function.
    Exp Cell Res 2017 Dec 30. Epub 2017 Dec 30.
    Central Laboratory, The Union Hospital of Fujian Medical University, 29 Xinquan Road, Fuzhou 350001, China. Electronic address:
    Dendritic cells (DCs) are pivotal to initiating adaptive immune response. Emerging evidence highlights important roles of tuberous sclerosis complex 1 (Tsc1) in DC development and activation. Our previous study also showed that Tsc1 expression in DCs was required to promote T-cell homeostasis and response partially through inhibiting mammalian target of rapamycin complex1 (mTORC1). Read More

    Lithium promotes the production of reactive oxygen species via GSK-3β/TSC2/TOR signaling in the gill of zebrafish (Danio rerio).
    Chemosphere 2018 Mar 28;195:854-863. Epub 2017 Dec 28.
    College of Biological and Agricultural Engineering, Weifang Bioengineering Technology Research Center, Weifang University, Weifang 261061, China.
    In this study, the mechanism that lithium (Li) promotes the production of reactive oxygen species (ROS) via the glycogen synthase kinase-3β (GSK-3β)/tuberous sclerosis complex 2 (TSC2)/target of rapamycin (TOR) signaling was investigated in the gill of zebrafish (Danio rerio). After the zebrafish were treated by 25 and 50 mg/L Li+, the mRNA expression of GSK-3β and TSC2 was inhibited, but the expression of TOR was induced in the gill of zebrafish. The levels of hydrogen peroxide (H2O2), superoxide anion (O2·-), and hydroxy radical (·OH) as well as the activity of superoxide dismutase (SOD) were increased, while the activities of catalase (CAT), glutathione peroxidase (GSH-PX), and peroxidase (POD) were decreased by 25 and 50 mg/L Li+ treatments. Read More

    mTOR inhibition improves the immunomodulatory properties of human bone marrow mesenchymal stem cells by inducing COX-2 and PGE2.
    Stem Cell Res Ther 2017 12 29;8(1):292. Epub 2017 Dec 29.
    Bone Marrow Transplantation Center, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, 310003, People's Republic of China.
    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. Read More

    Retin Cases Brief Rep 2017 Dec 28. Epub 2017 Dec 28.
    Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
    Purpose: To report a patient with clinically invisible retinal astrocytic hamartomas (RAHs) detected on optical coherence tomography (OCT) and studied with OCT angiography (OCTA).

    Method: Case report.

    Results: An 11-year-old healthy girl was evaluated for reduced visual acuity in the right eye. Read More

    Correlation between TSC1 gene polymorphism and epilepsy.
    Exp Ther Med 2017 Dec 19;14(6):6238-6242. Epub 2017 Oct 19.
    Department of Neurology, People's Hospital of Rizhao, Rizhao, Shandong 276800, P.R. China.
    The correlation between tuberous sclerosis complex 1 (TSC1) gene polymorphism and epilepsy was studied. In total, 38 patients with epilepsy treated in People's Hospital of Rizhao from May 2015 to June 2016 were selected as study subjects, as the observation group, 38 healthy people in the same period were selected as the control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to study the polymorphism of TSC1 gene in the above study subjects. Read More

    Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review.
    Exp Ther Med 2017 Dec 18;14(6):6159-6163. Epub 2017 Oct 18.
    Department of Pulmonology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310052, P.R. China.
    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. Read More

    Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.
    Neuroradiology 2018 Feb 26;60(2):137-150. Epub 2017 Dec 26.
    Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 1800 Orleans Street, Zayed 4174, Baltimore, MD, 21287, USA.
    The current classification of malformations of cortical development is based on the type of disrupted embryological process (cell proliferation, migration, or cortical organization/post-migrational development) and the resulting morphological anomalous pattern of findings. An ideal classification would include knowledge of biological pathways. It has recently been demonstrated that alterations affecting the mechanistic target of rapamycin (mTOR) signaling pathway result in diverse abnormalities such as dysplastic megalencephaly, hemimegalencephaly, ganglioglioma, dysplastic cerebellar gangliocytoma, focal cortical dysplasia type IIb, and brain lesions associated with tuberous sclerosis. Read More

    Retinal astrocytoma regression in tuberous sclerosis patients treated with everolimus.
    J AAPOS 2017 Dec 19. Epub 2017 Dec 19.
    Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, Canada; Faculty of Medicine, University of Toronto, Toronto, Canada. Electronic address:
    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. Read More

    Recurrent, Giant Renal Angiomyolipoma Treated with Selective Arterial Embolization: A Case Report.
    Urol Int 2017 Dec 22. Epub 2017 Dec 22.
    Department of Urology, Istanbul Training and Research Hospital, Istanbul, Turkey.
    Renal angiomyolipoma (AML), a rare benign mesenchymal neoplasm, is characterized by the presence of vessels, smooth muscle, and adipose tissue. Treatment should be considered for symptomatic patients or for those at risk for complications, in particular for retroperitoneal bleeding, which is correlated to the size of the tumor, grade of the angiogenic component, and presence of tuberous sclerosis complex. Herein, we report the case of a 39-year-old female with renal AML who was treated in a conservative approach by super-selective embolization. Read More

    Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex.
    Int Sch Res Notices 2017 15;2017:8404378. Epub 2017 Nov 15.
    Paediatric Neurosciences, University College London, London, UK.
    Background. Facial angiofibromas affect most patients with tuberous sclerosis complex. They tend to progress, can cause recurrent bleeding and facial disfigurement, and have significant psychological effects. Read More

    Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex.
    J Eur Acad Dermatol Venereol 2017 Dec 19. Epub 2017 Dec 19.
    Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Tuberous sclerosis complex (TSC1, OMIM 191100 and TSC2 OMIM 613254) is an autosomal dominant neurocutaneous disorder that affects multiple organs, associated with the development of wide spread hamartomatous lesions including brain, eyes, lungs, heart, liver, kidneys and skin. Mutations in the tumor suppressor genes, TSC1 at 9q34 and TSC2 at 16p13.3, which encode the proteins hamartin and tuberin respectively, detected in approximately 85-90% of the cases. Read More

    Insulinoma and Tuberous Sclerosis: A Possible Mechanistic Target of Rapamycin (mTOR) Pathway Abnormality?
    J Endocr Soc 2017 Sep 17;1(9):1120-1123. Epub 2017 Jul 17.
    Department of Endocrinology, Middlemore Hospital, Auckland 2104, New Zealand.
    A 23-year-old New Zealand Māori male with tuberous sclerosis (TSC) and associated neurocognitive abnormalities presented with altered behavior and increasing seizure frequency. Endogenous hyperinsulinemia from an underlying insulinoma was confirmed and this was managed surgically. This case represents only the sixth description of insulinoma in TSC to date. Read More

    TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.
    Invest Ophthalmol Vis Sci 2017 Dec;58(14):6462-6469
    Department of Surgery and Board of the Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States.
    Purpose: To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC.

    Methods: Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. Identified mutation was confirmed by Sanger DNA sequencing. Read More

    Are We Overtreating Renal Angiomyolipoma: A Review of the Literature and Assessment of Contemporary Management and Follow-Up Strategies.
    Cardiovasc Intervent Radiol 2017 Dec 19. Epub 2017 Dec 19.
    Department of Radiology, Beaumont Hospital, Dublin, Ireland.
    Renal angiomyolipoma (AML) are benign tumours composed of fat, muscle, and disorganised blood vessels. Historic treatment algorithms for sporadic AML based on size fail to consider additional risk factors such as tumour vascularity and pseudoaneurysm formation. As AML is now predominantly incidental, rupture is rare and its mortality low. Read More

    Fibrous Cephalic Plaques in Tuberous Sclerosis Complex.
    J Am Acad Dermatol 2017 Dec 16. Epub 2017 Dec 16.
    Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. Electronic address:
    Background: Fibrous cephalic plaques (FCPs) stereotypically develop on the forehead of tuberous sclerosis complex (TSC) patients. They constitute a major feature for TSC diagnosis, and may present before other TSC-related cutaneous hamartomas.

    Objective: To describe the clinical characteristics of FCPs in TSC. Read More

    Different MRI-defined tuber types in tuberous sclerosis complex: Quantitative evaluation and association with disease manifestations.
    Brain Dev 2017 Dec 16. Epub 2017 Dec 16.
    Neurology Department, Medical Academy, Lithuanian University of Health Sciences, Lithuania. Electronic address:
    Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. A magnetic-resonance (MRI) based classification of tubers into types A, B and C has been proposed. However, the relationship between different tuber types and their quantitative characteristics, also the non-neurological manifestations of TSC remains unknown. Read More

    Effect of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex: an evaluation based on tumor density.
    Int J Clin Oncol 2017 Dec 18. Epub 2017 Dec 18.
    Department of Urology, Jikei University School of Medicine, Tokyo, Japan.
    Background: The aim of this study was to evaluate the influence of components of angiomyolipoma (AML) on the efficacy of everolimus.

    Methods: We investigated a total of 40 patients with tuberous sclerosis complex (TSC) who had AML ≥4 cm in diameter. The components of the AML were determined using abdominal computed tomography (CT) images. Read More

    Liver Angiomyolipomas in Tuberous Sclerosis Complex-Their Incidence and Course.
    Pediatr Neurol 2018 Jan 28;78:20-26. Epub 2017 Sep 28.
    Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
    Background: The purpose of this study was to evaluate the epidemiology and clinical significance of hepatic angiomyolipomas in patients with tuberous sclerosis complex.

    Methods: We performed a retrospective analysis of clinical and imaging data from 187 patients with tuberous sclerosis complex. The prevalence, progression, and potential relationship between liver lesions and other clinical findings, including genetic associations, were assessed. Read More

    [What's new in pediatric dermatology?]
    Ann Dermatol Venereol 2017 Dec;144 Suppl 4:IVS29-IVS39
    Centre de référence des maladies rares de la peau et des muqueuses d'origine génétique, service de dermatologie, hôpital Archet 2, CHU de Nice, France. Electronic address:
    The year 2017 in pediatric dermatology was marked by several consensus recommendations and meta analyzes on childhood psoriasis, atopic dermatitis or PHACE syndrome, case series on the role of anti-JAK treatment in adolescent with alopecia areata, sirolimus for vascular malformations, ivermectine for rosacea, inhibitors of MEK for type 1 neurofibromatosis or on the side effects of the oral isotretinoin for acne or propranolol for immature hemangioma. Only few randomized controlled studies have been published on the interest of adalimumab in the treatment of psoriasis or topical sirolimus for angiofibroma in tuberous sclerosis complex for example. There were also clinical articles on various affections such as the sign of the scalp hair collar sign, childhood prurigo, ichthyosis, atopic dermatitis, warts or Zika virus infection. Read More

    Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development.
    J Child Neurol 2018 Jan 16;33(1):55-63. Epub 2017 Mar 16.
    1 Department of Neurology and the Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
    Malformations of cortical development represent a common cause of epileptic encephalopathies and drug-resistant epilepsy in children. As current treatments are often ineffective, new therapeutic targets are needed for epileptic encephalopathies associated with cortical malformations. The mechanistic/mammalian target of rapamycin (mTOR) pathway constitutes a signaling pathway that drives cellular and molecular mechanisms of epileptogenesis in a variety of focal cortical malformations. Read More

    Rapid regression of large cardiac rhabdomyomas in neonates after sirolimus therapy.
    Cardiol Young 2017 Dec 13:1-5. Epub 2017 Dec 13.
    1Department of Pediatrics,Division of Pediatric Cardiology,Duke University Hospital and Health Center,Durham,NC,United States of America.
    Cardiac rhabdomyomas are the most common tumours in children and are typically seen in association with the tuberous sclerosis complex. Although benign and often associated with spontaneous regression, in rare circumstances surgical resection is indicated to relieve obstruction or other mass-related effects. Recent clinical trials have demonstrated the benefits of mammalian target of rapamycin inhibitors for the treatment of other tumour sub-types associated with tuberous sclerosis. Read More

    Treatment effect of mTOR-inhibition on tissue composition of renal angiomyolipomas in tuberous sclerosis complex (TSC).
    PLoS One 2017 12;12(12):e0189132. Epub 2017 Dec 12.
    Department of Radiology, Charité, Berlin, Germany.
    Purpose: Tuberous sclerosis complex (TSC)-associated renal angiomyolipoma (AML) have a high lifetime risk of acute bleeding. MTOR-inhibitors are a promising novel treatment for TSC-AML, however adequate response to therapy can be difficult to assess. Early changes in MRI signal may serve as a novel early indicator for a satisfactory response to mTOR-inhibitor therapy of AML. Read More

    Calcitriol Reverses the Down-Regulation Pattern of Tuberous Sclerosis Complex Genes in an In Vitro Calcification Model.
    J Mol Neurosci 2018 Jan 11;64(1):140-143. Epub 2017 Dec 11.
    Departamento de Neuropsiquiatria, Universidade Federal de Pernambuco, Av. Prof. Moraes Rego 1235, Cidade Universitária, Recife, Pernambuco, 50670-901, Brazil.
    Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with autosomal dominant inheritance, and most of the cases are related to loss of function of the TSC1 and TSC2 genes. TSC may occur with a wide range of clinical findings and skin, kidney, brain, and heart are the most commonly affected organs. Brain calcifications in TSC are also described and reported as diffuse and without pattern of symmetry or bilaterality. Read More

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