9,910 results match your criteria Tuberous Sclerosis Imaging


The mTOR pathway in treatment of epilepsy: a clinical update.

Future Neurol 2018 May 29;13(2):49-58. Epub 2018 May 29.

Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

Nearly a third of patients with epilepsy have seizures refractory to current medical therapies. In the search for novel drug targets, the mTOR pathway has emerged as key in the regulation of neuronal function, growth and survival, and other cellular processes related to epileptogenesis. Hyperactivation of the mTOR pathway has been implicated in tuberous sclerosis complex and other 'mTORopathies', clinical syndromes associated with cortical developmental malformations and drug-resistant epilepsy. Read More

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CSF nerve growth factor (β-NGF) is increased but CSF insulin-like growth factor-(IGF-1) is normal in children with tuberous sclerosis and infantile spasms.

Eur J Paediatr Neurol 2018 Nov 14. Epub 2018 Nov 14.

School of Medicine, University of Eastern Finland, Kuopio, Finland. Electronic address:

Tuberous sclerosis is associated with epilepsy that is often refractory. We examined cerebrospinal fluid (CSF) concentrations for neurotrophins, nerve growth factor (β-NGF) and insulin-like growth factor (IGF-1) in children with infantile spasms between 1997 and 2010. We classified the patients as follows: tuberous sclerosis (n = 5), cryptogenic spasms (n = 6), postinfectious spasms (n = 5) and other symptomatic spasms (n = 22). Read More

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November 2018

Biotechnological applications of inulin-rich feedstocks.

Bioresour Technol 2018 Nov 9. Epub 2018 Nov 9.

Université Clermont Auvergne, Institut Pascal, UMR, CNRS 6602, and Labex, IMobS3, 4 Avenue Blaise Pascal, TSA 60026, CS 60026, F-63178 Aubiere Cedex, France.

Inulin is a naturally occurring second largest storage polysaccharide with a wide range of applications in pharmaceutical and food industries. It is a robust polysaccharide which consists of a linear chain of β-2, 1-linked-d-fructofuranose molecules terminated with α-d-glucose moiety at the reducing end. It is present in tubers, bulbs and tuberous roots of more than 36,000 plants belonging to both monocotyledonous and dicotyledonous families. Read More

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November 2018
1 Read

The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features.

Top Magn Reson Imaging 2018 Dec;27(6):433-462

Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. Read More

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December 2018
5 Reads

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report.

J Child Neurol 2018 Dec 5:883073818813238. Epub 2018 Dec 5.

1 Division of Neurology, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.

Hemimegalencephaly is a hamartomatous malformation of one hemisphere. Functional hemispherectomy, the definitive treatment, is associated with significant morbidity and mortality in early infancy. Dysregulation of the mTOR pathway can result in malformations of cortical development, and mTOR inhibitors can effectively reduce seizures in tuberous sclerosis complex. Read More

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December 2018

THE MULBERRY TUMOUR (A Case Report).

Med J Armed Forces India 1994 Jul 27;50(3):225-226. Epub 2017 Jun 27.

Trainee, Dept of Ophthalmology, AFMC, Pune 411 040.

A case of tuberous sclerosis with the classical triad of adenoma sebaceum, mental retardation and epilepsy is reported in a 10 year old boy. Fundus examination revealed a typical "mulberry" tumour and CT scan showed multiple "brain - stones". Fundus examination as aid to early diagnosis is emphasized. Read More

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The level of microRNA 21 is upregulated by rapamycin in serum of tuberous sclerosis complex patients and subependymal giant cell astrocytoma (SEGA)-derived cell cultures.

Folia Neuropathol 2018 ;56(3):167-174

Tuberous sclerosis complex (TSC) represents a genetic condition, in which the clinical manifestations are caused by the disinhibition of the mammalian target of rapamycin (mTOR) pathway due to mutations in the TSC1 (hamartin) or TSC2 (tuberin) genes. The deregulated mTOR activity leads to multi-site tumors, including subependymal giant cell astrocytoma (SEGA). SEGA is a brain tumor that affects around 15% of TSC patients. Read More

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January 2018

Molecular Regulation of Catalpol and Acteoside Accumulation in Radial Striation and non-Radial Striation of Tuberous Root.

Int J Mol Sci 2018 Nov 26;19(12). Epub 2018 Nov 26.

School of medicine, Henan University of Chinese Medicine, Zhengzhou 450046, China.

L., a perennial plant of Scrophulariaceae, is one of the most commonly used herbs in traditional Chinese medicine (TCM) that have been widely cultivated in China. However, to date, the biosynthetic pathway of its two quality-control components, catalpol and acteoside, are only partially elucidated and the mechanism for their tissue-specific accumulation remains unknown. Read More

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November 2018
2 Reads

The Multiple Functions of the PAQosome: An R2TP- and URI1 Prefoldin-Based Chaperone Complex.

Adv Exp Med Biol 2018 ;1106:37-72

Department of Biochemistry, University of Toronto, Toronto, ON, Canada.

The PAQosome (Particle for Arrangement of Quaternary structure) is a large multisubunit chaperone complex that is essential for the assembly and stabilization of other macromolecular complexes. It also interacts with several chaperones including Hsp90, Hsp70, and CCT. The PAQosome is comprised of the R2TP complex, the URI1 prefoldin complex (also known as the non-canonical prefoldin-like complex), the RNA polymerase subunit RPB5, and the WD40 repeat protein WDR92. Read More

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January 2018

Strategies for the Construction of Cassava Brown Streak Disease Viral Infectious Clones.

Mol Biotechnol 2018 Nov 27. Epub 2018 Nov 27.

School of Biological Sciences, University of Bristol, 24 Tyndall Ave, Bristol, BS8 1TQ, UK.

Cassava brown streak disease (CBSD) has major impacts on yield and quality of the tuberous roots of cassava in Eastern and Central Arica. At least two Potyviridae species cause the disease: Cassava brown streak virus (CBSV) and Ugandan cassava brown streak virus (UCBSV). Cloned viral genome sequences known as infectious clones (ICs) have been important in the study of other viruses, both as a means of standardising infectious material and characterising viral gene function. Read More

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November 2018
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Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study.

Transl Neurosci 2018 12;9:154-160. Epub 2018 Nov 12.

Department of Neuroscience, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population. This was a retrospective chart review study of 88 patients diagnosed with TSC with or without epilepsy. Read More

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November 2018
3 Reads

Multiple Critical Periods for Rapamycin Treatment to Correct Structural Defects in -Suppressed Brain.

Front Mol Neurosci 2018 8;11:409. Epub 2018 Nov 8.

Department of Brain and Cognitive Science, Massachusetts Institute of Technology, Cambridge, MA, United States.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder affecting the brain and other vital organs. Neurological symptoms include epilepsy, intellectual disability, and autism. TSC is caused by a loss-of-function mutation in the or gene. Read More

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November 2018
3 Reads

Sevoflurane Postconditioning Inhibits Autophagy Through Activation of the Extracellular Signal-Regulated Kinase Cascade, Alleviating Hypoxic-Ischemic Brain Injury in Neonatal Rats.

Neurochem Res 2018 Nov 20. Epub 2018 Nov 20.

Department of Anesthesiology, Shengjing Hospital, China Medical University, Shenyang, 110004, People's Republic of China.

Hypoxic-ischemic brain injury (HIBI) in neonates is one of the major contributors of newborn death and cognitive impairment. Numerous animal studies have demonstrated that autophagy is substantially increased in HIBI and that sevoflurane postconditioning (SPC) can attenuate HIBI. However, if SPC-induced neuroprotection inhibits autophagy in HIBI remains unknown. Read More

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November 2018
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Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study.

J Investig Med 2018 Nov 18. Epub 2018 Nov 18.

School of Medicine, Chung Shan Medical University, Taichung, Taiwan.

Tuberous sclerosis complex (TSC) is a rare disease that causes multisystem benign neoplasm, induced by dysregulation of the mammalian target of the rapamycin pathway (mTOR). This study aimed to examine the effects of continuous low-dose everolimus, a potent and selective inhibitor of mTOR, on the treatment of TSC-associated renal angiomyolipoma (AML). Between July 2013 and August 2017, 11 patients with TSC-AML were enrolled for an everolimus therapy protocol. Read More

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November 2018
1 Read

Recognizing Hereditary Renal Cancers Through the Microscope: A Pathology Update.

Surg Pathol Clin 2018 Dec 17;11(4):725-737. Epub 2018 Oct 17.

Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address:

A heightened understanding of hereditary renal cancer syndromes and their molecular basis has led to an increased awareness and recognition of these renal neoplasms by pathologists. Because a diagnosis of hereditary renal cell carcinoma has a profound impact on the patient and family members, when and how to raise such a suspicion via pathologic assessment has become an important yet very challenging task. This review discusses key clinicopathologic, immunohistochemical, and genetic characteristics of hereditary renal cancer syndromes, and important differential diagnostic challenges, emphasizing recent pathologic and molecular advances. Read More

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December 2018
4 Reads

Studying child development in genetic models of ASD.

Prog Brain Res 2018 1;241:159-192. Epub 2018 Nov 1.

Division of Neuroscience & Experimental Psychology, School of Biological Sciences, University of Manchester, Manchester, United Kingdom; Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Greater Manchester Mental Health NHS Trust, Manchester, United Kingdom. Electronic address:

This chapter approaches the early development in autism spectrum disorder (ASD) through comparative study of some key monogenic syndromic models of ASD in humans. Using this method, as well as referring to relevant work in idiopathic ASD, we address three complimentary areas: (i) patterns of ASD behavioral phenotype expression across genetic syndromes, as a way of addressing gene-phenotype correlations; (ii) longitudinal developmental trajectories toward autism in early childhood, as a way of addressing developmental specificity; and (iii) experimental intervention trials, for treatment and mechanism discovery. The comparative approach does not highlight striking phenotypic specificity, but early studies were often limited and more methodologically sophisticated recent studies may suggest subtle distinctions. Read More

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November 2018
1 Read

[Dermal Clues to Systemic Diseases].

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

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November 2018
8 Reads

Observational study of characteristics and clinical outcomes of Dutch patients with tuberous sclerosis complex and renal angiomyolipoma treated with everolimus.

PLoS One 2018 15;13(11):e0204646. Epub 2018 Nov 15.

Groupe d'analyse, Ltée, Montréal, QC, Canada.

Objective: To compare kidney size (used as proxy for total renal angiomyolipoma [rAML] size) and kidney function outcomes between patients with tuberous sclerosis complex (TSC) and rAML treated and not treated with everolimus.

Methods: Medical charts of adults with TSC-associated rAML followed at a specialty medical center in the Netherlands (1990-2015). Included patients treated with everolimus (n = 33, of which 27 were included in the kidney size analyses and 27 in the kidney function analyses [21 patients in both]; index date = everolimus initiation) and non-treated patients (n = 39, of which 29 were included in the kidney size analyses and 33 in the kidney function analyses [23 patients in both]; index date = one date among all dates with outcome measurement). Read More

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November 2018
2 Reads

Establishment of a Regional Interdisciplinary Medical System for Managing Patients with Tuberous Sclerosis Complex (TSC).

Sci Rep 2018 Nov 13;8(1):16747. Epub 2018 Nov 13.

Facility, Tuberous Sclerosis Complex Board, Seirei Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Nakaku, Hamamatsu, Shizuoka, 430-8558, Japan.

Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by lesions that involve multiple organs. Interdisciplinary management at individual facilities needs to be coordinated to treat multiple organ systems. We hypothesized that the number of patients, opportunities for patients to undergo examinations, and opportunities for patients to be treated would increase after establishment of a TSC board (TB) in our hospital. Read More

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November 2018
1 Read

Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex.

Pediatr Neurol 2018 Oct 18. Epub 2018 Oct 18.

Department of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Objective: We studied the longitudinal effects of everolimus, an inhibitor of the mammalian target of rapamycin (mTOR), on callosal white matter diffusion tensor imaging (DTI) in patients with tuberous sclerosis complex (TSC).

Methods: Serial imaging data spanning nine years were used from the open label, Phase I/II trial (NCT00411619) and open-ended extension phase of everolimus for the treatment of subependymal giant cell astrocytoma associated with TSC. From 28 patients treated with everolimus and 25 untreated control patients, 481 MRI scans were available. Read More

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October 2018
2 Reads

Genetic Evaluation of Common Neurocutaneous Syndromes.

Pediatr Neurol 2018 Aug 10. Epub 2018 Aug 10.

Department of Pediatric Genetics, Dokuz Eylül University Medical School, Izmir, Turkey.

The neurocutaneous syndromes are a group of multisystem disorders that affect the skin and central nervous system. Neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis complex and Sturge-Weber syndrome are the four major neurocutaneous disorders that mainly present in childhood. In this review, we discuss the clinical findings and genetic diagnosis, related genes/pathways and genotype-phenotype correlations of these four neurocutaneous syndromes. Read More

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August 2018
4 Reads

Oxidant and antioxidant levels and DNA damage in tuberous sclerosis.

Brain Dev 2018 Nov 10. Epub 2018 Nov 10.

Department of Pediatric Neurology, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey.

Objective: The pathogenesis of inherited diseases is thought to involve oxidative stress and the associated DNA damage, which are also implicated in many other conditions including cancer. Tuberous sclerosis is a genetic disease with autosomal dominant inheritance pattern that is characterized by the development of hamartomas in multiple organ systems. Oxidative stress and the related DNA damage are also likely to play a significant role in the pathogenesis of this condition. Read More

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November 2018
1 Read

Current value of intraoperative electrocorticography (iopECoG).

Epilepsy Behav 2018 Nov 9. Epub 2018 Nov 9.

Epilepsy Center, Neurological Clinic, University Hospital Erlangen, Germany.

Objective: Intraoperative electrocorticography (iopECoG) can contribute to delineate the resection borders of the anticipated epileptogenic zone in epilepsy surgery. However, it has several caveats that should be considered to avoid incorrect interpretation during intraoperative monitoring.

Methods: The literature on iopECoG application was reviewed, and pros and cons as well as obstacles to this technique were analyzed. Read More

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November 2018

Ultrasound-guided fine needle aspiration cytology in the diagnosis of hepatic and pancreatic perivascular epithelioid cell tumors: A case series.

Diagn Cytopathol 2018 Nov 12. Epub 2018 Nov 12.

Pathology Unit, AO Ordine Mauriziano, Torino, Italy.

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors that can affect any part of the body. They can be sporadic or arise in the setting of tuberous sclerosis (TSC). In this article, we report a series of three hepatic and two pancreatic PEComas diagnosed preoperatively with ultrasound-guided fine needle aspiration (FNA). Read More

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November 2018

Lymphangioleiomyomatosis (LAM) presenting as recurrent pneumothorax in an infant with tuberous sclerosis: treated successfully with sirolimus.

BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.

Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Lymphangioleiomyomatosis (LAM) either sporadic or a part of tuberous sclerosis complex is rare in paediatric age group. Here, we report a case of LAM with tuberous sclerosis in an infant. She was referred to our institute at the age of 4 months as a case of recurrent bilateral pneumothorax requiring intercostal tube drainage. Read More

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November 2018
4 Reads

Tuberous Breast Deformity Correction: 12-year Experience.

Aesthetic Plast Surg 2018 Nov 8. Epub 2018 Nov 8.

St. Petersburg State Pediatric Medical University, Saint Petersburg, Russia.

Background: This article shows our 12-year experience in application of the technique of breast parenchyma modification with simultaneous augmentation on the tuberous breast. We undertook the study, and with the results of this study we can say that tuberous breast deformation is a common pathology that is caused not only by a thickening of the superficial fascia but also by breast parenchyma fibrosis. When traditional techniques without parenchyma modification are used during the surgery, it is often that patients come back to treat complications. Read More

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November 2018
9 Reads

B-cell-specific mammalian target of rapamycin complex 1 activation results in severe osteoarthritis in mice.

Int Immunopharmacol 2018 Dec 6;65:522-530. Epub 2018 Nov 6.

Department of Orthopedics, The Third Affiliated Hospital of Southern Medical University, Guangzhou 510630, China; Academy of Orthopedics, Guangdong Province, Guangzhou 510630, China. Electronic address:

This study aims to investigate the effect of enriched plasma cells on the production of inflammatory cytokines and development of osteoarthritis (OA) in mice with B-cell-specific conditional deletion of the tuberous sclerosis 1 gene (TSC1). OA was induced by destabilization of the medial meniscus (DMM) in mice with TSC1 disruption in B cells (CD19-TSC1) and in littermate control mice (CON). The effects of DMM and incidence of OA were evaluated histologically, mRNA levels of inflammatory cytokines were detected by polymerase chain reaction, and serum cytokine levels were detected by enzyme-linked immunosorbent assay. Read More

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December 2018
4 Reads

Tuberous sclerosis complex: new insights into clinical and therapeutic approach.

J Nephrol 2018 Nov 7. Epub 2018 Nov 7.

Laboratory of Experimental Nephrology, Renal Division, Dipartimento di Scienze della Salute, San Paolo Hospital, Università di Milano, Via A. di Rudinì, 8, 20142, Milan, Italy.

Tuberous sclerosis complex (TSC) is a complex disease with many different clinical manifestations. Despite the common opinion that TSC is a rare condition, with a mean incidence of 1/6000 live births and a prevalence of 1/20,000, it is increasingly evident that in reality this is not true. Its clinical sequelae span a range of multiple organ systems, in particular the central nervous system, kidneys, skin and lungs. Read More

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November 2018
2 Reads

Differential Expression of MicroRNA-19b Promotes Proliferation of Cancer Stem Cells by Regulating the TSC1/mTOR Signaling Pathway in Multiple Myeloma.

Cell Physiol Biochem 2018 5;50(5):1804-1814. Epub 2018 Nov 5.

Department of Hematology, the First Affiliated Hospital of Dalian Medical University, Dalian,

Background/aims: MiR-19b has been reported to be involved in several malignancies, but its role in multiple myeloma (MM) is still unknown. The objective of this study was to explore the biological mechanism of miR-19b in the progression of MM.

Methods: First, we performed real-time polymerase chain reaction (PCR) and Western blot to study the expression of miR-19b, tuberous sclerosis 1 (TSC1), and caspase-3 in different groups. Read More

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November 2018
8 Reads

Diagnosis of Bilateral Retinocytoma in an Adolescent Patient Using Multimodal Imaging and Genetic Testing.

Ophthalmic Surg Lasers Imaging Retina 2018 Oct;49(10):812-814

A 12-year-old male presented for evaluation of asymptomatic bilateral retinal tumors. Both eyes contained whitish-gray retinal tumors with intralesional calcifications. Enhanced depth optical coherence tomography and high-resolution (20 MHz) ultrasonography narrowed the differentiation diagnosis to astrocytic hamartoma versus retinocytoma. Read More

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October 2018
4 Reads

Tuberous Sclerosis Complex: Early Diagnosis in Infants.

Pediatr Neurol Briefs 2018 Oct 17;32:12. Epub 2018 Oct 17.

Departments of Pediatrics and Neurology, Tulane University School of Medicine, New Orleans, LA.

Investigators from the Tuberous Sclerosis Complex (TSC) Autism Center of Excellence Research conducted two concurrent prospective longitudinal studies to analyze the timing and pattern of clinical presenting symptoms of TSC in infants to facilitate earlier diagnosis and treatment in this specific population. Read More

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October 2018

Invasive monitoring after resection of epileptogenic neocortical lesions in multistaged epilepsy surgery in children.

Epilepsy Res 2018 Dec 19;148:48-54. Epub 2018 Sep 19.

Division of Pediatric Neurosurgery, Department of Surgery, Texas Children's Hospital and Department of Neurosurgery, Baylor College of Medicine, Houston, TX, USA.

Objective: Incomplete resection of neocortical epileptogenic foci correlates with failed epilepsy surgery in children. We often treat patients with neocortical epilepsy with a staged approach using invasive monitoring to localize the focus, resect the seizure onset zone, and, in select cases, post-resection invasive monitoring (PRM). We report the technique and the outcomes of children treated with staged surgery including PRM. Read More

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December 2018
3 Reads

Best use of the tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) checklist.

Dev Med Child Neurol 2018 Oct 31. Epub 2018 Oct 31.

Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.

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October 2018
1 Read

Tuberous sclerosis complex: a clinical case with multiple ophthalmological manifestations.

BMJ Case Rep 2018 Oct 25;2018. Epub 2018 Oct 25.

Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal.

The tuberous sclerosis complex is a rare disease, with autosomal dominant transmission, with multisystemic involvement including ophthalmologic. Retinal hamartomas and retinal achromic patch are the most frequent ocular findings. Other ophthalmic signs and symptoms are relatively rare in this disease. Read More

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October 2018
2 Reads

The mTOR Independent Function of Tsc1 and FNIPs.

Trends Biochem Sci 2018 Dec 22;43(12):935-937. Epub 2018 Oct 22.

Department of Urology, SUNY Upstate Medical University, Syracuse, NY 13210, USA; Upstate Cancer Center, SUNY Upstate Medical University, Syracuse, NY 13210, USA; Department of Biochemistry and Molecular Biology, SUNY Upstate Medical University, Syracuse, NY 13210, USA. Electronic address:

New roles for Tsc1 and FNIP1/2 as regulators of the molecular chaperone Hsp90 were recently identified, demonstrating a broader cellular impact outside of AMPK-mTOR signaling. In studying the function of these proteins we must take a holistic view of the cell, instead of maintaining our focus on a single pathway. Read More

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December 2018

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

Orphanet J Rare Dis 2018 Oct 25;13(1):185. Epub 2018 Oct 25.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.

Background: It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study describes mental health and well-being in mothers of children with 13 rare genetic syndromes and contrasts the results with mothers of children with autism. Read More

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October 2018
7 Reads

Discovery and Preclinical Characterization of 5-[4,6-Bis({3-oxa-8-azabicyclo[3.2.1]octan-8-yl})-1,3,5-triazin-2-yl]-4-(difluoromethyl)pyridin-2-amine (PQR620), a Highly Potent and Selective mTORC1/2 Inhibitor for Cancer and Neurological Disorders.

J Med Chem 2018 Nov 14;61(22):10084-10105. Epub 2018 Nov 14.

Department of Biomedicine , University of Basel , Mattenstrasse 28 , 4058 Basel , Switzerland.

Mechanistic target of rapamycin (mTOR) promotes cell proliferation, growth, and survival and is overactivated in many tumors and central nervous system disorders. PQR620 (3) is a novel, potent, selective, and brain penetrable inhibitor of mTORC1/2 kinase. PQR620 (3) showed excellent selectivity for mTOR over PI3K and protein kinases and efficiently prevented cancer cell growth in a 66 cancer cell line panel. Read More

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November 2018
1 Read

A novel lysosome-to-mitochondria signaling pathway disrupted by amyloid-β oligomers.

EMBO J 2018 Nov 22;37(22). Epub 2018 Oct 22.

Department of Biology, University of Virginia, Charlottesville, VA, USA

The mechanisms of mitochondrial dysfunction in Alzheimer's disease are incompletely understood. Using two-photon fluorescence lifetime microscopy of the coenzymes, NADH and NADPH, and tracking brain oxygen metabolism with multi-parametric photoacoustic microscopy, we show that activation of lysosomal mechanistic target of rapamycin complex 1 (mTORC1) by insulin or amino acids stimulates mitochondrial activity and regulates mitochondrial DNA synthesis in neurons. Amyloid-β oligomers, which are precursors of amyloid plaques in Alzheimer's disease brain and stimulate mTORC1 protein kinase activity at the plasma membrane but not at lysosomes, block this Nutrient-induced Mitochondrial Activity (NiMA) by a mechanism dependent on tau, which forms neurofibrillary tangles in Alzheimer's disease brain. Read More

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November 2018
8 Reads

Discrimination of Platycodon grandiflorum and Codonopsis lanceolata using gas chromatography-mass spectrometry-based metabolomics approach.

Talanta 2019 Jan 15;192:486-491. Epub 2018 Sep 15.

Western Seoul Center, Korea Basic Science Institute, Bugahyeon-ro Seodaemun-gu, Seoul 03760, South Korea. Electronic address:

Species of herbaceous flowering perennial plant of the family Campanulaceae such as Platycodon grandiflorum (P. grandiflorum) and Codonopsis lanceolata (C. lanceolata) widely used in traditional medicine to treat different diseases. Read More

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January 2019
4 Reads

Does Vagal Nerve Stimulation Treat Drug-Resistant Epilepsy in Patients with Tuberous Sclerosis Complex?

World Neurosurg 2018 Oct 19. Epub 2018 Oct 19.

Department of Neuroscience, Neurosurgery, Padua University, Padua, Italy.

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October 2018
5 Reads

PROBING MECHANICAL PROPERTIES OF BRAIN IN A TUBEROUS SCLEROSIS MODEL OF AUTISM.

J Biomech Eng 2018 Oct 22. Epub 2018 Oct 22.

Department of Biological Engineering, MIT, Cambridge, MA, USA; Department of Materials Science and Engineering, MIT, Cambridge, MA, USA.

Causes of Autism Spectrum Disorders (ASD) are understood poorly, making diagnosis and treatment challenging. While many studies have investigated the biochemical and genetic aspects of ASD, whether and how mechanical characteristics of the autistic brain can modulate neuronal connectivity and cognition in ASD are unknown. Previously, it has been shown that ASD brains are characterized by abnormal white matter and disorganized neuronal connectivity; we hypothesized that these significant cellular-level structural changes may translate to changes in the mechanical properties of the autistic brain or regions therein. Read More

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October 2018
2 Reads

MiR-126-3p promotes the cell proliferation and inhibits the cell apoptosis by targeting TSC1 in the porcine granulosa cells.

In Vitro Cell Dev Biol Anim 2018 Dec 19;54(10):715-724. Epub 2018 Oct 19.

Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, National Engineering Research Centre for Breeding Swine Industry, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.

In mammalian ovaries, many studies demonstrated that the proliferation and apoptosis of granulosa cells are involved in folliculogenesis. Previous evidence suggests that miR-126-3p might get involved in the proliferation and apoptosis of granulosa cells, and tuberous sclerosis complex 1 (TSC1) gene was predicted as one target of miR-126-3p, and moreover, granulosa cell-specific TSC1 knockout stimulated folliculogenesis in mice. However, the molecular regulation of miR-126-3p on TSC1 and its effects on cell proliferation and apoptosis remain virtually unexplored in granulosa cells. Read More

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December 2018
6 Reads

A case of uterine lymphangioleiomyomatosis in a young woman that was identified via peritonitis.

J Obstet Gynaecol Res 2018 Oct 19. Epub 2018 Oct 19.

Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Toyoake, Japan.

Although lymphangioleiomyomatosis is often observed with tuberous sclerosis, uterine lymphangioleiomyomatosis is rare. Our patient was 36 years old (gravida 0, para 0). She had a history of tuberous sclerosis, and many myometrial cystic lesions were identified during assisted reproductive therapy. Read More

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October 2018
6 Reads

Correction: miR-9-5p, miR-124-3p, and miR-132-3p regulate BCL2L11 in tuberous sclerosis complex angiomyolipoma.

Lab Invest 2018 Oct 18. Epub 2018 Oct 18.

Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China.

Following the publication of this article, the authors noticed an error was in Figure 5C. In the miR-124-3p mimics, the same image was used accidentally for the miR-132-3p mimics. This does not affect the results and conclusions of the article. Read More

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October 2018

Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex.

Leg Med (Tokyo) 2018 Oct 9;36:37-40. Epub 2018 Oct 9.

Medical Examiner's Office of Hyogo Prefecture, Kobe, Japan; Department of Forensic Medicine, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. Rhabdomyoma is the most common cardiac tumor diagnosed in fetuses, neonates and infants, and is closely linked to TSC. Here we describe an autopsy case of right ventricular rhabdomyoma in TSC. Read More

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October 2018
6 Reads

Incidental lymphangioleiomyomatosis in the lymph nodes of gynecologic surgical specimens.

Eur J Obstet Gynecol Reprod Biol 2018 Dec 10;231:93-97. Epub 2018 Oct 10.

Department of Gynecology, National Cancer Center Hospital, Tokyo 104-0045, Japan.

Objectives: Incidentally discovered lymphangioleiomyomatosis (LAM) in sampled lymph nodes are infrequent but intractable issues for gynecologists. The aims of this study were to elucidate the prevalence of incidental nodal LAM in a consecutive cohort of gynecologic surgical specimens from Japanese patients, to document clinicopathological features of nodal LAM cases, and to investigate the association between the subsequent development of pulmonary LAM and tuberous sclerosis complex (TSC).

Study Design: We retrospectively reviewed 1732 consecutive Japanese patients who underwent gynecologic surgery with lymph node sampling in the National Cancer Center Hospital between January 2004 and April 2017. Read More

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December 2018
1 Read

Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex.

Neurology 2018 Nov 17;91(21):974-976. Epub 2018 Oct 17.

From Harvard Medical School (K.-H.Y., O.M., N.P., I.S.K.), Boston; Harvard University (K.-H.Y., S.C.K.), Cambridge; Brigham and Women's Hospital (D.R.L.), Boston, MA; Aetna Inc. (K.F.), Hartford, CT; and Boston Children's Hospital (M.S., I.S.K.), MA.

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November 2018
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Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" Missense Mutation and Complex Skin Hamartoma.

Int J Mol Sci 2018 Oct 16;19(10). Epub 2018 Oct 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy.

Sotos syndrome is one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000⁻1:50,000, and it is characterized by wide allelic heterogeneity, with more than 100 different known mutations in the nuclear receptor-binding SET domain containing protein 1 () gene. Most of these alterations are deletions and common micro-deletions with haploinsufficiency. Read More

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October 2018
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Tuberous sclerosis complex.

Am J Med Genet C Semin Med Genet 2018 Sep 16;178(3):274-277. Epub 2018 Oct 16.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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September 2018