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    1 OF 169

    The genomic landscape of tuberous sclerosis complex.
    Nat Commun 2017 Jun 15;8:15816. Epub 2017 Jun 15.
    Center for Cancer and Cell Biology, Van Andel Research Institute, 333 Bostwick Avenue NE, Grand Rapids, Michigan 49503, USA.
    Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic inactivation of wild-type alleles drives MTOR activation; however, second hits to TSC1/TSC2 are not always observed. Here, we present the genomic landscape of TSC hamartomas. Read More

    Genomic rearrangements in sporadic lymphangioleiomyomatosis: an evolving genetic story.
    Mod Pathol 2017 Jun 23. Epub 2017 Jun 23.
    Departments of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN, USA.
    Sporadic lymphangioleiomyomatosis is a progressive pulmonary cystic disease resulting from the infiltration of smooth muscle-like lymphangioleiomyomatosis cells into the lung. The migratory/metastasizing properties of the lymphangioleiomyomatosis cell together with the presence of somatic mutations, primarily in the tuberous sclerosis complex gene (TSC2), lead many to consider this a low-grade malignancy. As malignant tumors characteristically accumulate somatic structural variations, which have not been well studied in sporadic lymphangioleiomyomatosis, we utilized mate pair sequencing to define structural variations within laser capture microdissected enriched lymphangioleiomyomatosis cell populations from five sporadic lymphangioleiomyomatosis patients. Read More

    Erzhi Pill® Repairs Experimental Liver Injury via TSC/mTOR Signaling Pathway Inhibiting Excessive Apoptosis.
    Evid Based Complement Alternat Med 2017 30;2017:5653643. Epub 2017 May 30.
    Science and Technology College, Jiangxi University of Traditional Chinese Medicine, Nanchang, Jiangxi Province 330004, China.
    The present study aimed to investigate the mechanism of hepatoprotective effect of Erzhi Pill (EZP) on the liver injury via observing TSC/mTOR signaling pathway activation. The experimental liver injury was induced by 2-acetylaminofluorene (2-AAF) treatment combined with partial hepatectomy (PH). EZP treated 2-AAF/PH-induced liver injury by the therapeutic and prophylactic administration. Read More

    TFEB activation restores migration ability to Tsc1-deficient adult neural stem/progenitor cells.
    Hum Mol Genet 2017 Jun 14. Epub 2017 Jun 14.
    Department of Chemistry, Biology and Biotechnology, University of Perugia, Via del Giochetto, 06122 Perugia, Italy.
    Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either of two genes, TSC1 or TSC2, resulting in the constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1). mTOR inhibitors are now considered the treatment of choice for TSC disease. A major pathological feature of TSC is the development of subependymal giant cell astrocytomas (SEGAs) in the brain. Read More

    Significance of dynamic changes in gastric smooth muscle cell apoptosis, PI3K-AKT-mTOR and AMPK-mTOR signaling in a rat model of diabetic gastroparesis.
    Mol Med Rep 2017 Jun 13. Epub 2017 Jun 13.
    Department of Histology and Embryology, Yanbian University College of Medicine, Yanji, Jilin 133002, P.R. China.
    The aim of the present study was to investigate the significance of cell apoptosis, the phosphoinositide-3-kinase (PI3K)-protein kinase B (AKT)-mammalian target of rapamycin (mTOR) pathway, and the 5' adenosine monophosphate-activated protein kinase (AMPK)‑mTOR pathways in the process of diabetic gastroparesis. Changes in gastric smooth muscle cells of diabetic rats with induced gastroparesis were examined. The diabetic rat model was established by dividing animals into a normal control group and diabetic model groups examined at 2, 4 and 6 weeks. Read More

    Two Cases of Tuberous Sclerosis Complex Suggestive of Complicating Multifocal Micronodular Pneumocyte Hyperplasia: A Case Report.
    J UOEH 2017 ;39(2):133-141
    Department of Respiratory Medicine, School of Medicine, University of Occupational and Environmental Health.
    Multifocal micronodular pneumocyte hyperplasia (MMPH) is pathologically characterized by multifocal nodular hyperplasia of type Ⅱ pneumocyte-like cells. MMPH is usually complicated with tuberous sclerosis complex (TSC). MMPH patients tend to be asymptomatic or only slightly symptomatic. Read More

    Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex.
    Sci China Life Sci 2017 Jun 14. Epub 2017 Jun 14.
    Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
    Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7. Read More

    Neurophysiological evidence of preserved connectivity in tuber tissue.
    Epilepsy Behav Case Rep 2017 6;7:64-68. Epub 2016 Oct 6.
    Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
    We present a case of preserved corticospinal connectivity in a cortical tuber, in a 10 year-old boy with intractable epilepsy and tuberous sclerosis complex (TSC). The patient had multiple subcortical tubers, one of which was located in the right central sulcus. In preparation for epilepsy surgery, motor mapping, by neuronavigated transcranial magnetic stimulation (nTMS) coupled with surface electromyography (EMG) was performed to locate the primary motor cortical areas. Read More

    Primary Intestinal Lymphangiectasia as a First Manifestation of Tuberous Sclerosis Complex.
    J Pediatr Gastroenterol Nutr 2017 Jun 13. Epub 2017 Jun 13.
    *Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville Victoria Australia †The Royal Children's Hospital, Parkville Victoria Australia ‡Department of Paediatrics, Monash University, Clayton Victoria Australia.

    Downregulation of MicroRNA-193b-3p Promotes Autophagy and Cell Survival by Targeting TSC1/mTOR Signaling in NSC-34 Cells.
    Front Mol Neurosci 2017 30;10:160. Epub 2017 May 30.
    Department of Neurology, West China Hospital, Sichuan UniversityChengdu, China.
    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the death of upper and lower motor neurons. MicroRNAs (miRNAs) are reported to be closely related to the development of ALS. However, the precise functions of miRNAs in the pathogenesis of ALS remain largely unknown. Read More

    Genomics-Guided Precise Anti-Epileptic Drug Development.
    Neurochem Res 2017 Jun 12. Epub 2017 Jun 12.
    Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland.
    Traditional antiepileptic drug development approaches have yielded many important clinically valuable anti-epileptic drugs. However, the screening of promising compounds has been naturally agnostic to epilepsy etiology in individual human patients. Now, genomic medicine is changing the way we view human disease. Read More

    Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor.
    J Pediatr 2017 Jun 6. Epub 2017 Jun 6.
    Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
    Renal cysts occur in approximately 50% of patients with tuberous sclerosis complex, but their clinical significance and response to treatment are unknown. Abdominal imaging of 15 patients with tuberous sclerosis complex-associated renal cystic disease who had received mammalian target of rapamycin inhibitor therapy for other tuberous sclerosis complex-related indications was evaluated. Reductions in cyst number, sum diameter, and volume were observed. Read More

    Dermatological manifestations of tuberous sclerosis complex (TSC).
    J Dtsch Dermatol Ges 2017 Jun 9. Epub 2017 Jun 9.
    Department of Dermatology, Allergology, and Venereology, Saarland University Medical Center, Homburg/Saar, Germany.
    Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement that frequently occurs in early childhood. Dermatologic manifestations include facial angiofibromas, hypomelanotic macules, fibrous cephalic plaques, shagreen patches, and ungual fibromas. The International TSC Consensus Conference in 2012 provided guidelines for standardized baseline evaluation and follow-up. Read More

    Diagnosis of tuberous sclerosis complex in a patient referred for uncontrolled hypertension and renal dysfunction: a case highlighting the importance of proper diagnostic work-up of hypertensive patients.
    J Hypertens 2017 Jun 7. Epub 2017 Jun 7.
    aDepartment of Nephrology bThird Department of Cardiology, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki cPieria Hemodialysis Unit, Katerini dFirst Department of Dermatology, Hippokration Hospital, Aristotle University of Thessaloniki eDepartment of Neurology, Hippokration Hospital fFirst Department of Pediatrics, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
    : We report a case of a 39-year-old woman with resistant hypertension and renal dysfunction. The patient was hospitalized 3 months earlier for dyspnea at the Department of Cardiology, where she was diagnosed with heart failure (left ventricle injection fraction: 25-30%), pulmonary hypertension, chronic kidney disease (serum creatinine: 1.58 mg/dl), and resistant hypertension and discharged with optimal heart failure treatment. Read More

    BRSK2 induced by nutrient deprivation promotes Akt activity in pancreatic cancer via downregulation of mTOR activity.
    Oncotarget 2017 May 18. Epub 2017 May 18.
    State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200433, People's Republic of China.
    Neoplastic cells in pancreatic ductual adenocarcinoma (PDAC) survive in an energy-deprived milieu, and hyper-activation of Akt is thought to contribute to the neoplastic cell survival in PDAC. Kras activating mutations, common in PDAC, was believed to be the major driver of Akt activation. However, the inhibitor to Kras was not therapeutic for PDAC patients. Read More

    Novel case of resolution of hypsarrhythmia following tuber resection in a patient with infantile spasms and tuberous sclerosis.
    Clin Case Rep 2017 Jun 19;5(6):859-862. Epub 2017 Apr 19.
    Department of NeuroscienceMarshall University1600 Medical Center Drive, Suite B500Huntington25701West VirginiaUSA.
    This article describes a case involving the resolution of hypsarrhythmia, a generalized abnormal EEG pattern, following focal resection of a cortical tuber in a patient with tuberous sclerosis. Read More

    Effects of Gui Zhu Yi Kun formula on the P53/AMPK pathway of autophagy in granulosa cells of rats with polycystic ovary syndrome.
    Exp Ther Med 2017 Jun 26;13(6):3567-3573. Epub 2017 Apr 26.
    Department of Gynecology, Dongfang Hospital, Beijing University of Chinese Medicine, Beijing 100078, P.R. China.
    The aim of the present study was to investigate the molecular mechanism associated with the traditional Chinese medicine formula Gui Zhu Yi Kun formula (GZYKF), in the treatment of polycystic ovary syndrome (PCOS). In this study, granulosa cells (GCs) of rats with PCOS were cultured and treated with testosterone propionate (TP) alone or with serum from rats treated with different doses of GZYKF. The effect of TP on cell growth was assayed using the MTT method. Read More

    Characterization of developmental defects in the forebrain resulting from hyperactivated mTOR signaling by integrative analysis of transcriptomic and proteomic data.
    Sci Rep 2017 Jun 6;7(1):2826. Epub 2017 Jun 6.
    Department of Life Science, Ewha Womans University, Seoul, 03760, Republic of Korea.
    Hyperactivated mTOR signaling in the developing brain has been implicated in multiple forms of pathology including tuberous sclerosis complex (TSC). To date, various phenotypic defects such as cortical lamination irregularity, subependymal nodule formation, dysmorphic astrocyte differentiation and dendritic malformation have been described for patients and animal models. However, downstream networks affected in the developing brain by hyperactivated mTOR signaling have yet to be characterized. Read More

    Extra-pituitary Cerebral Anomalies in Pediatric Patients of Ectopic Neurohypophysis: An Uncommon Association.
    J Clin Imaging Sci 2017 22;7:19. Epub 2017 May 22.
    Department of Radiodiagnosis, Sikkim Manipal Institute of Medical Sciences, Sikkim, India.
    Context: Ectopic neurohypophysis (EN) refers to an interrupted, nonvisualized, and thinned out pituitary stalk with ectopic location of the posterior pituitary gland. Concurrent extra-pituitary cerebral and extra-cranial anomalies have been rarely reported in patients of EN.

    Aim: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of extra-pituitary cerebral anomalies in pediatric patients of EN. Read More

    Renal Epithelioid Angiomyolipoma Associated with Pulmonary Lymphangioleiomyomatosis: Imaging Findings.
    J Clin Imaging Sci 2017 22;7:18. Epub 2017 May 22.
    Department of Clinical Radiology, Medical School, University of Ioannina, University Campus, Ioannina, Greece.
    Renal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are the most common tumors of the perivascular epithelioid cell (PEComa) family. Both may be associated with tuberous sclerosis (TS) complex. Epithelioid AML (EAML) is a rare variety of AMLs, with a potential aggressive behavior. Read More

    Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas.
    Skeletal Radiol 2017 Jun 3. Epub 2017 Jun 3.
    Department of Diagnostic Radiology, Singapore General Hospital, Singapore, Singapore.
    Tuberous sclerosis complex is a genetic disease that results in abnormal cellular proliferation and hamartoma growths in multiple organ systems. However, macrodactyly and subcutaneous fibrous harmatomas are very uncommon associations with this disease. We see these rare manifestations in our case report of a 16-year-old female with tuberous sclerosis complex and discuss the imaging findings and pathogenetics of these manifestations. Read More

    Renal cell cancers: unveiling the hereditary ones and saving lives-a tailored diagnostic approach.
    Int Urol Nephrol 2017 May 31. Epub 2017 May 31.
    Department of Urology, Kent and Canterbury Hospital, Canterbury, UK.
    The prevalence of RCC in Europe is 2-3% and increasing every year. Hereditary predisposition is found in 5-8% of all RCC cases. Hereditary syndromes associated with RCC include: Von Hippel-Lindau, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube', hereditary leiomyomatosis, succinate dehydrogenase's deficiency, tuberous sclerosis complex and Cowden's syndrome. Read More

    Massive biventricular rhabdomyoma in a neonate.
    Ann Pediatr Cardiol 2017 May-Aug;10(2):218-219
    Department of Cardiology, AIIMS, New Delhi, India.
    Rhabdomyoma is a well characterised entity in a neonate. Herein, we report a massive biventricular rhabdomyoma in a neonate presenting with cyanosis and congestive heart failure which was confirmed on autopsy. The report is for documentation of an unusually large tumour. Read More

    Peripapillar retinal hamartoma associated with tuberous sclerosis. Case report.
    Arch Soc Esp Oftalmol 2017 May 27. Epub 2017 May 27.
    Hospital Universitario San Juan, San Juan (Alicante), España.
    Introduction: Tuberous sclerosis is a rare multisystemic disease with an autosomal dominant inheritance pattern. There are few documented cases in the literature of retinal hamartomas (astrocytomas) with aggressive progression in the context of this disease.

    Case Report: A report is presented on a case of a 31 year-old male with unknown history of ophthalmic or systemic conditions, who referred to a history of 6 months of blurred vision in his right eye. Read More

    Everolimus in pregnancy: Case report and literature review.
    J Obstet Gynaecol Res 2017 May 29. Epub 2017 May 29.
    Department of Obstetrics, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan.
    There have been few reports on the effects of everolimus on the fetus, but none of six infants with documented everolimus exposure in utero had congenital malformations. A 32-year-old nulliparous woman on everolimus (5.0 mg/day) for renal angiomyolipoma (AML) due to tuberous sclerosis complex (TSC) was found to be pregnant at gestational week (GW) 7-5/7, at which time everolimus was withheld. Read More

    Successful Treatment of Multiple Angiomyolipomas with Sirolimus in a Child.
    Indian J Nephrol 2017 May-Jun;27(3):237-238
    Department of Paediatrics, Children's Hospital at the London Health Sciences Centre, London, Ontario, Canada.
    Tuberous sclerosis complex frequently results in the formation of renal angiomyolipomas (AMLs). Sirolimus (SIR) or everolimus can be used to treat large AMLs, although this treatment has rarely been described in children, particularly for multiple renal AMLs. A 15-year-old girl presented with bilateral severe chronic flank pain coinciding with increased renal size and hundreds of renal AMLs. Read More

    Tuberous sclerosis complex (Bourneville-Pringle disease) in a 25-year- old female with bilateral renal angiomyolipoma and secondary hypertension.
    Saudi J Kidney Dis Transpl 2017 May-Jun;28(3):633-638
    Department of Internal Medicine, Hedi Chaker Hospital, Sfax, Tunisia.
    Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs. It is characterized by skin and renal lesions in addition to central and peripheral nervous system tumors, with neurological and psychiatric findings. We report such a rare case of tuberous sclerosis in a 25-year-old female who presented with abdominal pain and hypertension. Read More

    RAPAMYCIN INCREASES LENGTH AND MECHANOSENSORY FUNCTION OF PRIMARY CILIA IN RENAL EPITHELIAL AND VASCULAR ENDOTHELIAL CELLS.
    Int Educ Res J 2016 Dec;2(12):91-97
    Department of Biomedical & Pharmaceutical Sciences, Chapman University, Irvine, CA.
    Primary cilia arebiophysically-sensitive organelles responsible for sensing fluid-flow and transducing this stimulus into intracellular responses. Previous studies have shown that the primary cilia mediate flow-induced calcium influx, and sensitivity of cilia function to flow is correlated to cilia length. Cells with abnormal cilia length or function can lead to a host of diseases that are collectively termed as ciliopathies. Read More

    Melatonin in Tuberous Sclerosis Complex Analysis Using Modern Mathematical Modeling Methods.
    Int J Endocrinol 2017 25;2017:8234502. Epub 2017 Apr 25.
    Department of Medical Physics, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, Poland.
    Purpose. The aim of the study was to assess melatonin secretion pattern in children with TSC and to compare it with the secretion patterns in children with and without epilepsy. Material and Methods. Read More

    [Epileptic encephalopathies in infancy. How do we treat them? Does the aetiology influence the response to treatment?]
    Rev Neurol 2017 May;64(s03):S71-S75
    Hospital Universitario Virgen de las Nieves, 18013 Granada, Espana.
    Introduction: Resistance to treatments is a common feature of Ohtahara, Aicardi, West and Dravet syndromes, as well as malignant migrating epilepsy in infancy.

    Aims: To update the therapeutic management and to analyse whether the aetiology somehow determines the treatment.

    Development: Convulsive seizures in the first year of life may be due to a potentially treatable aetiology, which makes it essential to carry out a complete evaluation so as to be able to begin, as early as possible, the most suitable and the non-specific symptomatic treatments to control the seizures, which prevents or minimises their deleterious effects. Read More

    [Epileptic encephalopathies].
    Rev Neurol 2017 May;64(s03):S45-S48
    Hospital Torrecardenas, 04009 Almeria, Espana.
    According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits. Some epileptic syndromes, such as those of West, Lennox-Gastaut or Dravet, are associated to a high probability of encephalopathic traits. Read More

    Long-term outcomes of epilepsy surgery in tuberous sclerosis complex.
    J Neurol 2017 Jun 17;264(6):1146-1154. Epub 2017 May 17.
    Department of Neurosurgery, General Hospital of PLA, Beijing, China.
    Approximately 50% of patients with tuberous sclerosis complex (TSC) present intractable epilepsy, and surgery is an option for those patients. Hereby, we analyze long-term seizure control and neuropsychological outcomes of epilepsy surgery in patients with TSC. Clinical data were retrospectively collected from 66 patients with TSC and epilepsy followed up over 5 years, 51 of whom underwent epilepsy surgery between 2001 and 2011. Read More

    Subependymal Giant Cell Astrocytoma Presenting with Tumoral Bleeding: A Case Report.
    Brain Tumor Res Treat 2017 Apr 30;5(1):37-41. Epub 2017 Apr 30.
    Department of Radiology, Chonnam National University Medical School, Chonnam National University Hwasun Hospital, Hwasun, Korea.
    We report a rare case of subependymal giant cell astrocytoma (SEGA) associated with tumoral bleeding in a pediatric patient without tuberous sclerosis complex (TSC). A 10-year-old girl presented with a 2-week history of an increasingly aggravating headache. Brain magnetic resonance imaging revealed an approximately 3. Read More

    Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.
    J Cell Biol 2017 Jun 17;216(6):1579-1596. Epub 2017 May 17.
    Institut de Génétique Moléculaire de Montpellier, Centre National de la Recherche Scientifique, University of Montpellier, 34293 Montpellier, France
    Splicing is catalyzed by the spliceosome, a complex of five major small nuclear ribonucleoprotein particles (snRNPs). The pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome. Using quantitative proteomics, we identified assembly intermediates containing PRPF8, EFTUD2, and SNRNP200 in association with the HSP90/R2TP complex, its ZNHIT2 cofactor, and additional proteins. Read More

    p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis.
    Cancer Res 2017 Jun 16;77(12):3255-3267. Epub 2017 May 16.
    Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
    p62/sequestosome-1 (SQSTM1) is a multifunctional adaptor protein and autophagic substrate that accumulates in cells with hyperactive mTORC1, such as kidney cells with mutations in the tumor suppressor genes tuberous sclerosis complex (TSC)1 or TSC2. Here we report that p62 is a critical mediator of TSC2-driven tumorigenesis, as Tsc2(+/-) and Tsc2f/f Ksp-CreERT2(+) mice crossed to p62(-/-) mice were protected from renal tumor development. Metabolic profiling revealed that depletion of p62 in Tsc2-null cells decreased intracellular glutamine, glutamate, and glutathione (GSH). Read More

    Acute Management of Symptomatic Subependymal Giant Cell Astrocytoma With Everolimus.
    Pediatr Neurol 2017 Jul 18;72:81-85. Epub 2017 Apr 18.
    Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address:
    Background: Subependymal giant cell astrocytomas (SEGA) are slow-growing tumors, which can cause obstructive hydrocephalus in patients with tuberous sclerosis complex (TSC). These tumors require routine surveillance with magnetic resonance imaging. Current consensus guidelines recommend treatment of asymptomatic SEGAs with an mechanistic target of rapamycin (mTOR) inhibitor because these medications have demonstrated efficacy and safety in multiple prospective clinical trials. Read More

    Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience.
    Open Access Maced J Med Sci 2017 Apr 20;5(2):193-196. Epub 2017 Mar 20.
    Main Center of Family Medicine, Prishtina, Kosovo.
    Background: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). Read More

    The Utility of Surveillance Electroencephalography to Guide Early Antiepileptic Drug Therapy in Infants With Tuberous Sclerosis Complex.
    Pediatr Neurol 2017 Jul 18;72:76-80. Epub 2017 Apr 18.
    Division of Pediatric Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada. Electronic address:
    Background: Seizures are a common early presentation in infants with tuberous sclerosis complex (TSC) and can be preceded by electrographic changes on electroencephalography (EEG) before clinical seizure onset. A limited number of studies have addressed the initial EEG findings in TSC and the outcome of early treatment with antiepileptic medication prior to clinical seizure onset.

    Methods: We describe two infants with tuberous sclerosis complex whose surveillance EEG showed focal seizures that were not previously recognized by caregivers. Read More

    [Bowel obstruction by hamartomatous polyp in a pediatric patient with tuberous sclerosis].
    Arch Argent Pediatr 2017 Jun;115(3):e157-e161
    Servicio de Clínica Médica. Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina.
    Tuberous sclerosis is an autosomal dominant disorder with a wide clinical spectrum of disease. It is characterized by development of benign tumors in multiple organs due to a disturbance in cellular growth and differentiation. It usually affects skin, brain, heart and kidney. Read More

    Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients.
    J Am Acad Dermatol 2017 May 10. Epub 2017 May 10.
    Department of Dermatology, Saint-Eloi Hospital and Montpellier University Hospital, Montpellier, France; Institut National de la Santé et de la Recherche Médicale (INSERM) U1058, Montpellier, France; Regional Center of Competence for Rare Skin Disorders, Montpellier, France. Electronic address:
    Background: Data on long-term topical sirolimus treatment of the cutaneous manifestations of tuberous sclerosis complex are rare.

    Objective: To evaluate the long-term benefit and tolerance of topical 1% sirolimus in tuberous sclerosis complex.

    Methods: In this 18-month prospective single-center study, 1% sirolimus cream was applied daily to facial angiofibromas (FAs), fibrous cephalic plaques (FCPs), shagreen patches, hypomelanotic macules, and ungual fibromas. Read More

    Association of Myelinated Retinal Nerve Fibers With Acquired Mulberry Retinal Astrocytoma: Coincidental or Relational?
    Ophthalmic Surg Lasers Imaging Retina 2017 May;48(5):441-442
    Retinal astrocytoma is an important ocular finding for diagnosis of tuberous sclerosis complex and is also an association of neurofibromatosis. The authors present findings of a case of acquired astrocytoma associated with myelinated retinal nerve fibers. The authors also discuss the images and possible cause-effect relationship between them. Read More

    Chordoma Occurs in Young Children With Tuberous Sclerosis.
    J Neuropathol Exp Neurol 2017 Jun;76(6):418-423
    From the Department of Pediatrics, University of Colorado Denver, Aurora, Colorado (NAD, TL, ML, JMM-L); Morgan Adams Foundation Pediatric Brain Tumor Research Program, Children's Hospital Colorado, Aurora, Colorado (NAD, JMM-L); Department of Neurology (TL, BKK-D); Department of Radiology (IN); Department of Neurosurgery (MHH, BKK-D); and Department of Pathology, University of Colorado Denver, Aurora, Colorado (BKK-D).
    Chordomas are rare bony neoplasms usually unassociated with a familial tumor predisposition syndrome. The peak incidence of this midline axial skeletal tumor is in adulthood but when very young children are affected, consideration should be given to occurrence within the tuberous sclerosis (TS) complex, especially when presenting in neonates <3 months of age. To call attention to this association, we present a brachyury-immunopositive chordoma occurring in the skull base of a 2-month-old male infant who was later realized to have metastases to the subcutaneous tissues and lungs, as well as rhabdomyoma of the heart and renal cysts/angiomyolipomas, that is, characteristic features of the TS complex. Read More

    Lysosomal regulation of cholesterol homeostasis in tuberous sclerosis complex is mediated via NPC1 and LDL-R.
    Oncotarget 2017 Jun;8(24):38099-38112
    Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Tuberous sclerosis complex (TSC) is a multisystem disease associated with hyperactive mTORC1. The impact of TSC1/2 deficiency on lysosome-mediated processes is not fully understood. We report here that inhibition of lysosomal function using chloroquine (CQ) upregulates cholesterol homeostasis genes in TSC2-deficient cells. Read More

    Early manifestations of renal disease in patients with tuberous sclerosis complex.
    Int J Nephrol Renovasc Dis 2017 2;10:91-95. Epub 2017 May 2.
    Division of Pediatric Nephrology.
    Objectives: Renal manifestations are the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC), and include renal cysts, angiomyolipomas, fat-poor lesions, and malignant tumors. These lesions begin in childhood and often lead to chronic kidney disease (CKD). Little is known on the incidence of early modifiable risk factors of CKD, such as proteinuria and hypertension, or subtle decreases in glomerular filtration rate that correspond to the early stages of CKD in children with TSC. Read More

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