9,133 results match your criteria Tuberous Sclerosis


Neuronal spiking activity highlights a gradient of epileptogenicity in human tuberous sclerosis lesions.

Clin Neurophysiol 2019 Jan 30;130(4):537-547. Epub 2019 Jan 30.

Centre de Recherche Cerveau et Cognition, Université de Toulouse, Université Paul Sabatier Toulouse, Toulouse F-31330, France; Centre National de la Recherche Scientifique, CerCo, UMR 5549, Toulouse F-31052, France.

Objective: The mechanisms underlying epileptogenicity in tuberous sclerosis complex (TSC) are poorly understood.

Methods: We analysed neuronal spiking activity (84 neurons), fast ripples (FRs), local field potentials and intracranial electroencephalogram during interictal epileptiform discharges (IEDs) in the tuber and perituber of a patient using novel hybrid electrodes equipped with tetrodes.

Results: IEDs were recorded in the tuber and perituber. Read More

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http://dx.doi.org/10.1016/j.clinph.2018.12.013DOI Listing
January 2019

MR findings of uterine PEComa in patients with tuberous sclerosis: report of two cases.

Abdom Radiol (NY) 2019 Feb 18. Epub 2019 Feb 18.

Department of Radiology, University of Tsukuba Hospital, 2-1-1 Amakubo, Tsukuba, Ibaraki, 305-8576, Japan.

Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous disorder, is characterized by the presence of benign congenital tumors in multiple organs. Neoplasms with perivascular epithelioid cell differentiation (PEComas), including angiomyolipoma (AML) and lymphangioleiomyomatosis (LAM), can occur in association with TSC. This report describes two cases of uterine PEComas presenting characteristic MR imaging features reflecting pathological findings. Read More

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http://dx.doi.org/10.1007/s00261-019-01918-3DOI Listing
February 2019

Primary ocular presentation of tuberous sclerosis - A case report.

Indian J Ophthalmol 2019 Mar;67(3):433-435

Department of Ophthalmology, Christian Medical College, Vellore, Tamil Nadu, India.

A 25-year-old man presented with decreased vision in the left eye with hypopigmented elevated subretinal lesion over the optic disk with abnormal vasculature, subretinal and retinal hemorrhages, and fluid in the macula. An area of high spike over the disk with corresponding orbital shadowing was seen on B scan ultrasonography. Fundus fluorescein angiography revealed abnormal vasculature. Read More

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http://dx.doi.org/10.4103/ijo.IJO_925_18DOI Listing

'We've made the best of it. But we do not have a normal life': families' experiences of tuberous sclerosis complex and seizure management.

J Intellect Disabil Res 2019 Feb 18. Epub 2019 Feb 18.

Guys and St Thomas' NHS Foundation Trust (Kings Health Partners), Evelina London Children's Hospital, London, UK.

Background: Tuberous sclerosis complex (TSC) is a complex multisystem genetic disorder. Approximately 84% of people with TSC have epilepsy. However, there is little literature available regarding families' experiences with TSC and seizure management. Read More

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http://dx.doi.org/10.1111/jir.12609DOI Listing
February 2019

[Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)].

Klin Monbl Augenheilkd 2019 Feb 14. Epub 2019 Feb 14.

Augenklinik, UniversitätsSpital Zürich, Schweiz.

Background: Evaluation and comparison of the ocular phenotype in patients diagnosed with tuberous sclerosis complex (TSC). Analysis of ocular complications during follow-up.

Patients And Methods: A retrospective chart review was performed of patients with TSC who had received an ocular examination at the eye clinic of the University Hospital Zurich. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0804-1816
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http://dx.doi.org/10.1055/a-0804-1816DOI Listing
February 2019
2 Reads

The role of somatic mutational events in the pathogenesis of epilepsy.

Curr Opin Neurol 2019 Feb 11. Epub 2019 Feb 11.

Department of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA.

Purpose Of Review: There has been rapid progress in defining novel causative gene variants responsible for a large spectrum of human epilepsy syndromes and subtypes. Of particular interest is the discovery that somatic mutations, for example, noninherited mutations occurring in neuroglial progenitor cells during embryonic brain development, are highly linked to malformations of cortical development (MCD) such as focal cortical dysplasia (FCD) type II and hemimegalencephaly.

Recent Findings: Somatic gene variants have been identified in genes encoding regulatory proteins within the mechanistic target of rapamycin (mTOR) signaling cascade and have thus comprised the group classified as mTORopathies. Read More

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http://dx.doi.org/10.1097/WCO.0000000000000667DOI Listing
February 2019

Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients.

Front Immunol 2019 29;10:121. Epub 2019 Jan 29.

Department of Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States.

Brain-infiltrating lymphocytes (BILs) were isolated from resected brain tissue from 10 pediatric epilepsy patients who had undergone surgery for Hemimegalencephaly (HME) ( = 1), Tuberous sclerosis complex (TSC) ( = 2), Focal cortical dysplasia (FCD) ( = 4), and Rasmussen encephalitis (RE) ( = 3). Peripheral blood mononuclear cells (PBMCs) were also isolated from blood collected at the time of the surgery. Cells were immunostained with a panel of 20 antibody markers, and analyzed by mass cytometry. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362260PMC
January 2019
2 Reads

mTOR-dependent upregulation of xCT blocks melanin synthesis and promotes tumorigenesis.

Cell Death Differ 2019 Feb 13. Epub 2019 Feb 13.

State Key Laboratory of Medical Molecular Biology, Department of Physiology, Institute of Basic Medical Sciences & School of Basic Medicine, Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, 100005, China.

Loss of either TSC1 or TSC2 causes tuberous sclerosis complex (TSC) via activation of mTOR signaling pathway. The two prominent features of TSC are skin lesions including hypomelanic macules and benign tumors in multiple organs, whose molecular alterations are largely unknown. We report here that X cystine/glutamate antiporter (xCT) was elevated in Tsc2 or Pten cells, Tsc1 knockout mouse tissues and TSC2-deficient human kidney tumor. Read More

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http://www.nature.com/articles/s41418-019-0274-0
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http://dx.doi.org/10.1038/s41418-019-0274-0DOI Listing
February 2019
2 Reads
8.184 Impact Factor

Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis.

Orphanet J Rare Dis 2019 Feb 13;14(1):39. Epub 2019 Feb 13.

Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China.

Background: The treatment of tuberous sclerosis complex (TSC) using mammalian target of rapamycin (mTOR) inhibitors is clinically promising. The aim of the present study was to evaluate the efficacy and safety of mTOR inhibitors for improving the clinical symptoms of TSC.

Methods: We performed a systematic search of major electronic databases (PubMed, EMBASE, Cochrane Library and WanFang, CNKI, and VIP databases) to identify randomized controlled trials (RCTs) and quasi-randomized studies from the date of database inception to November 2017; the Chinese Food and Drug Administration and clinicaltrials. Read More

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http://dx.doi.org/10.1186/s13023-019-1012-xDOI Listing
February 2019
1 Read

CT characteristics predict the response to everolimus or sirolimus of renal angiomyolipomas in patients with tuberous sclerosis complex.

Int Urol Nephrol 2019 Feb 11. Epub 2019 Feb 11.

Department of Urology, Xiangya Hospital, Central South University, No. 87 Xiangya Road, Changsha, 410008, Hunan, China.

Objective: To investigate factors influencing the volume response of everolimus and sirolimus in tuberous sclerosis complex (TSC) associated-angiomyolipomas (AML).

Methods: A retrospective analysis of 30 cases of TSC-AML treated by mTOR inhibitors (everolimus 18 cases, and sirolimus 12 cases) between April 2014 and November 2017 at our center was carried out. Epidemiological data, therapeutic response and influence factors were reviewed and analyzed. Read More

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http://link.springer.com/10.1007/s11255-019-02093-6
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http://dx.doi.org/10.1007/s11255-019-02093-6DOI Listing
February 2019
2 Reads

Symptomatic improvement using everolimus in infants with cardiac rhabdomyoma.

Ann Pediatr Cardiol 2019 Jan-Apr;12(1):45-48

Department of Pediatric Cardiology, Care Hospital, Hyderabad, Telangana, India.

Background: Cardiac rhabdomyoma (CR) often shows spontaneous regression and needs close follow-up. These tumors may be associated with tuberous sclerosis complex (TSC), caused by the disinhibition of m-TOR protein.

Objective: The aim of the study is to observe the efficacy of everolimus in infants with significant CR. Read More

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http://dx.doi.org/10.4103/apc.APC_79_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343372PMC
February 2019
1 Read

The physiological mTOR complex 1 inhibitor DDIT4 mediates therapy resistance in glioblastoma.

Br J Cancer 2019 Feb 12. Epub 2019 Feb 12.

Dr. Senckenberg Institute of Neurooncology, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.

Background: Despite significant advances in the understanding of glioblastoma genetics and biology, survival is still poor. Hypoxia and nutrient depletion in the tumour microenvironment induce adaptive signalling and metabolic responses, which can influence sensitivity to therapeutic regimens. DNA damage-inducible transcript 4 (DDIT4) is a protein induced by hypoxia and in response to DNA stress. Read More

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http://www.nature.com/articles/s41416-018-0368-3
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http://dx.doi.org/10.1038/s41416-018-0368-3DOI Listing
February 2019
7 Reads

Topical use of mammalian target of rapamycin inhibitors in dermatology: A systematic review with meta-analysis.

J Am Acad Dermatol 2019 Mar;80(3):735-742

Universities of Tours and Nantes, INSERM 1246-SPHERE, Tours, France; Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations, CHRU Tours, Tours, France.

Background: Systemic mammalian target of rapamycin (mTOR) inhibitors are currently used in many dermatologic indications. Their topical use is recent and poorly codified.

Objective: To provide an overview of the topical use of mTOR inhibitors in dermatologic conditions and evaluate their efficacy and safety. Read More

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http://dx.doi.org/10.1016/j.jaad.2018.10.070DOI Listing

Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways.

Proc Natl Acad Sci U S A 2019 Feb 6;116(8):2977-2986. Epub 2019 Feb 6.

Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030;

Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that causes tumor formation in multiple organs. TSC is caused by inactivating mutations in the genes encoding TSC1/2, negative regulators of the mammalian target of rapamycin complex 1 (mTORC1). Diminished TSC function is associated with excess glycogen storage, but the causative mechanism is unknown. Read More

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http://dx.doi.org/10.1073/pnas.1812943116DOI Listing
February 2019
2 Reads

Noncanonical Inhibition of mTORC1 by Coxiella burnetii Promotes Replication within a Phagolysosome-Like Vacuole.

MBio 2019 Feb 5;10(1). Epub 2019 Feb 5.

Coxiella Pathogenesis Section, Laboratory of Bacteriology, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, Montana, USA

The Q fever agent is a Gram-negative bacterium that invades macrophages and replicates inside a specialized lysosomal vacuole. The pathogen employs a type 4B secretion system (T4BSS) to deliver effector proteins into the host cell that modify the containing vacuole (CCV) into a replication-permissive niche. Mature CCVs are massive degradative organelles that acquire lysosomal proteins. Read More

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http://dx.doi.org/10.1128/mBio.02816-18DOI Listing
February 2019
2 Reads

A small blackberry-like nodule on the nipple in a pregnant affected by Tuberous Sclerosis Complex.

G Ital Dermatol Venereol 2019 Feb 4. Epub 2019 Feb 4.

Department of Human Pathology, University of Messina, Messina, Italy.

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http://dx.doi.org/10.23736/S0392-0488.19.06174-1DOI Listing
February 2019
1 Read

Concordance between the interictal focal EEG pattern and MRI lesions as a predictor of a favorable surgical outcome in patients with epileptic spasms: a Chinese study.

J Neurosurg Pediatr 2019 Feb 1:1-10. Epub 2019 Feb 1.

Departments of1Functional Neurosurgery and.

OBJECTIVEThe aim of this study was to evaluate the electro-clinical features, etiology, treatment, and postsurgical seizure outcomes in patients with intractable epileptic spasms (ESs).METHODSThe authors retrospectively studied the medical records of all patients who had presented with medically intractable ESs and had undergone surgery in the period between October 2009 and August 2015. The interictal electroencephalography (EEG) pattern, MRI studies, magnetoencephalography findings, and postsurgical seizure outcomes were compared. Read More

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http://dx.doi.org/10.3171/2018.10.PEDS18380DOI Listing
February 2019
2 Reads

mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia.

J Neurosci 2019 Jan 30. Epub 2019 Jan 30.

Departments of Neurosurgery

Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are focal malformations of cortical development (FMCDs) that are highly associated with intractable epilepsy. TSC and FCD are mTORopathies caused by a spectrum of pathogenic variants in the mechanistic target of rapamycin (mTOR) pathway genes leading to differential activation of mTOR signaling. However, whether the degree of mTOR hyperactivity influences disease severity remains unclear. Read More

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http://dx.doi.org/10.1523/JNEUROSCI.2260-18.2019DOI Listing
January 2019

Tsc1 ablation in Prx1 and Osterix lineages causes renal cystogenesis in mouse.

Sci Rep 2019 Jan 29;9(1):837. Epub 2019 Jan 29.

Department of Ophthalmology, XinHua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Tuberous Sclerosis Complex (TSC) is caused by mutations in TSC1 or TSC2, which encode negative regulators of the mTOR signaling pathway. The renal abnormalities associated with TSC include angiomyolipoma, cysts, and renal cell carcinoma. Here we report that specific ablation of Tsc1 using the mesenchymal stem cell-osteoblast lineage markers induced cystogenesis in mice. Read More

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http://www.nature.com/articles/s41598-018-37139-9
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http://dx.doi.org/10.1038/s41598-018-37139-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351533PMC
January 2019
4 Reads

[Tuberous sclerosis complex presenting with a single focal cortical dysplasia on magnetic resonance imaging].

Zhonghua Er Ke Za Zhi 2019 Feb;57(2):148-150

Center of Epilepsy, Shenzhen Children's Hospital, Shenzhen 518026, China.

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.02.017DOI Listing
February 2019

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.

Mol Genet Genomic Med 2019 Jan 28:e00573. Epub 2019 Jan 28.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

Background: This study summarizes the results of prenatal diagnosis due to a history of de novo mutation in a previous pregnancy, in a tertiary center in Israel, over a 10-year period.

Methods: We sorted all cases of de novo mutations from a pool of 2,260 pregnancies for which prenatal molecular diagnosis was applied, between the years 2008 and 2017. We identified 122 molecular prenatal diagnosis performed for de novo mutations, in 90 women. Read More

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http://dx.doi.org/10.1002/mgg3.573DOI Listing
January 2019
2 Reads

Health utilities and quality of life in individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A web-based survey.

Epilepsy Behav 2019 Jan 25;92:213-220. Epub 2019 Jan 25.

St George's Hospital, Blackshaw Road, London SW17 0QT, United Kingdom.

Objectives: Individuals with tuberous sclerosis complex (TSC) experience a wide range of health impacts, including epileptic seizures, negatively impacting their health-related quality of life (HRQoL). Health state utility values (HSUVs) are index values representing HRQoL and are used as key inputs for health economic analyses. Such data are currently very limited in the TSC population. Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.11.021DOI Listing
January 2019
1 Read

Clinicopathological analysis of clinically occult extrapulmonary lymphangioleiomyomatosis in intra-pelvic and para-aortic lymph nodes associated with pelvic malignant tumors: A study of nine patients.

Pathol Int 2019 Jan;69(1):29-36

Department of Pathology, Kobe City Medical Center General Hospital, Kobe, Japan.

The clinicopathological and immunohistochemical characteristics of clinically occult extrapulmonary lymphangioleiomyomatosis in lymph nodes (LN-LAM) being dissected during surgical staging of pelvic malignancy have not been well investigated. We assessed samples from nine female patients (median age, 61). None had past or familial history of tuberous sclerosis and had LAM lesions other than LN such as lung. Read More

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http://dx.doi.org/10.1111/pin.12749DOI Listing
January 2019
1 Read

Resective surgery in tuberous Sclerosis complex, from Penfield to 2018: A critical review.

Rev Neurol (Paris) 2019 Jan 24. Epub 2019 Jan 24.

Lyon's Neuroscience Research Center, Inserm U1028/CNRS UMR 5292, 69003 Lyon, France; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon and Lyon 1 University, 69003 Lyon, France.

Medically treated patients suffering from tuberous sclerosis complex (TSC) have less than 30% chance of achieving a sustained remission. Both the international TSC consensus conference in 2012, and the panel of European experts in 2012 and 2018 have concluded that surgery should be considered for medically refractory TSC patients. However, surgery remains currently underutilized in TSC. Read More

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http://dx.doi.org/10.1016/j.neurol.2018.11.002DOI Listing
January 2019
1 Read

Cannabidiol modulates phosphorylated rpS6 signalling in a zebrafish model of Tuberous Sclerosis Complex.

Behav Brain Res 2019 May 23;363:135-144. Epub 2019 Jan 23.

School of Psychology and Clinical Language Sciences, University of Reading, Reading, UK. Electronic address:

Tuberous sclerosis complex (TSC) is a rare disease caused by mutations in the TSC1 or TSC2 genes and is characterized by widespread tumour growth, intractable epilepsy, cognitive deficits and autistic behaviour. CBD has been reported to decrease seizures and inhibit tumour cell progression, therefore we sought to determine the influence of CBD on TSC pathology in zebrafish carrying a nonsense mutation in the tsc2 gene. CBD treatment from 6 to 7 days post-fertilization (dpf) induced significant anxiolytic actions without causing sedation. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01664328183112
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http://dx.doi.org/10.1016/j.bbr.2019.01.040DOI Listing
May 2019
6 Reads

Phosphorylation of TSC2 by PKC-δ reveals a novel signaling pathway that couples protein synthesis to mTORC1 activity.

Mol Cell Biochem 2019 Jan 25. Epub 2019 Jan 25.

Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.

Downstream of insulin-like growth factor receptor, the TSC1/2/ TCB1D7 (tuberous sclerosis complex) and mTOR (mechanistic target of rapamycin) pathways are implicated in many human diseases, including cancer and diabetes. Targeting this pathway is currently an important approach for palliating or eradicating cancer. Downstream of mTOR, translational machinery targeting holds great promise for anticancer drug development. Read More

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http://dx.doi.org/10.1007/s11010-019-03498-8DOI Listing
January 2019
2 Reads

Hyperexcitability of the local cortical circuit in mouse models of tuberous sclerosis complex.

Mol Brain 2019 01 25;12(1). Epub 2019 Jan 25.

Department of Anatomy & Cell Biology, University of Illinois at Chicago, Chicago, IL, USA.

Tuberous sclerosis complex (TSC) is a neurogenetic disorder associated with epilepsy, intellectual disabilities, and autistic behaviors. These neurological symptoms result from synaptic dysregulations, which shift a balance between excitation and inhibition. To decipher the synaptic substrate of hyperexcitability, we examined pan-neuronal Tsc1 knockout mouse and found a reduction in surface expression of a GABA receptor (GABAR) subunit but not AMPA receptor (AMPAR) subunit. Read More

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http://dx.doi.org/10.1186/s13041-019-0427-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347813PMC
January 2019

The Genetics of Pneumothorax.

Am J Respir Crit Care Med 2019 Jan 25. Epub 2019 Jan 25.

Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States ;

A genetic influence on spontaneous pneumothoraces - those occurring without a traumatic or iatrogenic cause - is supported by several lines of evidence: 1) Pneumothorax can cluster in families (i.e. familial spontaneous pneumothorax); 2) Mutations in the FLCN gene have been found in both familial and sporadic cases; and 3) Pneumothorax is a known complication of several genetic syndromes. Read More

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https://www.atsjournals.org/doi/10.1164/rccm.201807-1212CI
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http://dx.doi.org/10.1164/rccm.201807-1212CIDOI Listing
January 2019
13 Reads

Tuberous sclerosis complex exhibits a new renal cystogenic mechanism.

Physiol Rep 2019 Jan;7(2):e13983

Departments of Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio.

Tuberous sclerosis complex (TSC) is a tumor predisposition syndrome with significant renal cystic and solid tumor disease. While the most common renal tumor in TSC, the angiomyolipoma, exhibits a loss of heterozygosity associated with disease, we have discovered that the renal cystic epithelium is composed of type A intercalated cells that have an intact Tsc gene that have been induced to exhibit Tsc-mutant disease phenotype. This mechanism appears to be different than that for ADPKD. Read More

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http://dx.doi.org/10.14814/phy2.13983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344348PMC
January 2019
5 Reads

Factors affecting epilepsy prognosis in patients with tuberous sclerosis.

Childs Nerv Syst 2019 Mar 23;35(3):463-468. Epub 2019 Jan 23.

Department of Biostatistics, Cukurova University, Adana, Turkey.

Purpose: We aimed to determine the characteristics of epileptic seizures that significantly affect the cognitive functions of 83 patients followed with tuberous sclerosis complex (TSC), their resistance to treatment and risk factors causing this resistance.

Materials-methods: In order to determine the prognosis, the seizure-free/seizure-controlled group and the group with refractory seizures were compared. In addition, risk factors affecting cognitive functions in the patients were determined. Read More

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http://link.springer.com/10.1007/s00381-019-04066-7
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http://dx.doi.org/10.1007/s00381-019-04066-7DOI Listing
March 2019
3 Reads

Mechanisms of sleep and circadian ontogeny through the lens of neurodevelopmental disorders.

Neurobiol Learn Mem 2019 Jan 19. Epub 2019 Jan 19.

Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, United States; Division of Sleep Medicine, Harvard Medical School, United States. Electronic address:

Sleep is a mysterious, developmentally regulated behavior fundamental for cognition in both adults and developing animals. A large number of studies offer a substantive body of evidence that demonstrates that the ontogeny of sleep architecture parallels brain development. Sleep deprivation impairs the consolidation of learned tasks into long-term memories and likely links sleep to the neural mechanisms underlying memory and its physiological roots in brain plasticity. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10747427193001
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http://dx.doi.org/10.1016/j.nlm.2019.01.011DOI Listing
January 2019
3 Reads

Potential therapeutic effect of curcumin, a natural mTOR inhibitor, in tuberous sclerosis complex.

Phytomedicine 2018 Sep 20;54:132-139. Epub 2018 Sep 20.

Ph.D. Program for Neural Regenerative Medicine, College of Medical Science and Technology, Taipei Medical University, Taipei, Taiwan; Center for Neurotrauma and Neuroregeneration, Taipei Medical University, Taipei, Taiwan. Electronic address:

Background: Curcumin is a polyphenol natural product of the plant Curcuma longa. Recent studies suggest that curcumin inhibit mTOR activity in vitro, which prompts us to investigate curcumin function as a new class of mTOR inhibitor suitable for tuberous sclerosis complex (TSC) treatment.

Purpose: We aim to investigate the efficacy of curcumin in the treatment of TSC related manifestations in animal model. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09447113183048
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http://dx.doi.org/10.1016/j.phymed.2018.09.203DOI Listing
September 2018
3 Reads

Frenolicin B Targets Peroxiredoxin 1 and Glutaredoxin 3 to Trigger ROS/4E-BP1-Mediated Antitumor Effects.

Cell Chem Biol 2018 Dec 4. Epub 2018 Dec 4.

Department of Pharmacology and Nutritional Sciences, College of Medicine, University of Kentucky, Lexington, KY 40536, USA; Markey Cancer Center, University of Kentucky, Lexington, KY 40536, USA. Electronic address:

Peroxiredoxin 1 (Prx1) and glutaredoxin 3 (Grx3) are two major antioxidant proteins that play a critical role in maintaining redox homeostasis for tumor progression. Here, we identify the prototypical pyranonaphthoquinone natural product frenolicin B (FB) as a selective inhibitor of Prx1 and Grx3 through covalent modification of active-site cysteines. FB-targeted inhibition of Prx1 and Grx3 results in a decrease in cellular glutathione levels, an increase of reactive oxygen species (ROS), and concomitant inhibition of cancer cell growth, largely by activating the peroxisome-bound tuberous sclerosis complex to inhibit mTORC1/4E-BP1 signaling axis. Read More

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http://dx.doi.org/10.1016/j.chembiol.2018.11.013DOI Listing
December 2018
2 Reads

A 39-year-old man with schizophrenia and tuberous sclerosis with a delusion of being a pregnant woman-A case report.

Clin Case Rep 2019 Jan 25;7(1):152-154. Epub 2018 Nov 25.

King Fahad Hospital of the University Al Khobar Saudi Arabia.

We present a case of a married man, known case of schizophrenia and tuberous sclerosis, who presented with delusion of pregnancy along with other psychotic symptoms. This type of delusion can be attributed to wish fulfillment as the patient has been married for seven years without being able to conceive. Read More

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http://dx.doi.org/10.1002/ccr3.1938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332766PMC
January 2019

Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature.

BMJ Case Rep 2019 Jan 10;12(1). Epub 2019 Jan 10.

Division of Endocrinology, Department of Internal Medicine, Texas Tech University Health Science Center School of Medicine, Lubbock, Texas, USA.

Somatostatinomas are rare neuroendocrine tumours, mostly located in the pancreas or duodenum, with an estimated incidence of 1 in 40 million. Duodenal somatostatinomas (DSs) are usually found in association with neurofibromatosis type 1 (NF1), tuberous sclerosis and Von Hippel-Lindau syndrome. Gastrointestinal stromal tumours (GIST) have also been described in NF1, but the association with somatostatinoma is very uncommon. Read More

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http://dx.doi.org/10.1136/bcr-2018-226702DOI Listing
January 2019
3 Reads

Wunderlich syndrome, spontaneous ruptured renal angiomyolipoma & tuberous sclerosis.

QJM 2019 Jan 10. Epub 2019 Jan 10.

Department of Neurology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, R.O.C.

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https://academic.oup.com/qjmed/advance-article/doi/10.1093/q
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http://dx.doi.org/10.1093/qjmed/hcz004DOI Listing
January 2019
5 Reads

Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation.

Chin Med J (Engl) 2019 Jan;132(1):103-105

Department of Nephrology, The Six Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510655, China.

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http://dx.doi.org/10.1097/CM9.0000000000000026DOI Listing
January 2019
3 Reads

Concentration of Serum Vascular Endothelial Growth Factor (VEGF-D) and Its Correlation with Functional and Clinical Parameters in Patients with Lymphangioleiomyomatosis from a Brazilian Reference Center.

Lung 2019 Jan 8. Epub 2019 Jan 8.

Divisao de Pneumologia, Instituto do Coracao, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Avenida Doutor Enéas de Carvalho Aguiar, 44, São Paulo, São Paulo, 05403-900, Brazil.

Introduction: Serum vascular endothelial growth factor-D (VEGF-D) is a lymphangiogenic growth factor that is considered a valuable tool in the diagnosis of lymphangioleiomyomatosis (LAM). Previous studies have reported a wide variability in VEGF-D serum levels in LAM patients and it seems to be associated with pulmonary impairment and lymphatic involvement.

Methods: We conducted a cross-sectional study from 2009 to 2017 that evaluated VEGF-D serum levels in a cohort of LAM patients who were never treated with mTOR inhibitors and compared them to healthy age-matched volunteers. Read More

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http://dx.doi.org/10.1007/s00408-018-00191-3DOI Listing
January 2019
1 Read

Correction: Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir-bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death.

Oncogene 2019 Jan 8. Epub 2019 Jan 8.

Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

This article was originally published under standard licence, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the paper have been modified accordingly. Read More

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http://www.nature.com/articles/s41388-018-0598-0
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http://dx.doi.org/10.1038/s41388-018-0598-0DOI Listing
January 2019
2 Reads

Efficacy of Dual Inhibition of Glycolysis and Glutaminolysis for Therapy of Renal Lesions in Tsc2 Mice.

Neoplasia 2019 02 8;21(2):230-238. Epub 2019 Jan 8.

Institute of Medical Genetics, Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK. Electronic address:

Tuberous sclerosis is caused by mutations in the TSC1 or TSC2 gene and characterized by development of tumors in multiple organs including the kidneys. TSC-associated tumors exhibit somatic loss of the second allele of the TSC genes, leading to aberrant activation of the mechanistic target of rapamycin (mTOR) signaling pathway. Activation of mTOR complex 1 (mTORC1) causes addiction to glucose and glutamine in Tsc1or Tsc2 mouse embryonic fibroblasts (MEFs). Read More

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http://dx.doi.org/10.1016/j.neo.2018.12.003DOI Listing
February 2019
1 Read

Effects of rapamycin on social interaction deficits and gene expression in mice exposed to valproic acid in utero.

Mol Brain 2019 01 8;12(1). Epub 2019 Jan 8.

Addictive Substance Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, Japan.

The mammalian target of rapamycin (mTOR) signaling pathway plays a crucial role in cell metabolism, growth, and proliferation. The overactivation of mTOR has been implicated in the pathogenesis of syndromic autism spectrum disorder (ASD), such as tuberous sclerosis complex (TSC). Treatment with the mTOR inhibitor rapamycin improved social interaction deficits in mouse models of TSC. Read More

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http://dx.doi.org/10.1186/s13041-018-0423-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325753PMC
January 2019
2 Reads

An unusual case of tuberous sclerosis incidentally discovered in adulthood: case report and review of the literature.

Acta Radiol Open 2018 Dec 6;7(12):2058460118806328. Epub 2018 Dec 6.

Department of Advanced Biomedical Sciences, University "Federico II," Naples, Italy.

Tuberous sclerosis (TS) is a relatively rare multi-organ disorder generally diagnosed in infancy and described as a clinical triad of sebaceous adenoma, mental retardation, and seizures. Angiomyolipoma (AML) is the most common benign renal tumor usually found incidentally as a solitary small echogenic lesion on grayscale ultrasound. Less commonly, it is part of the TS complex and is seen as multiple lesions in both kidneys. Read More

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http://dx.doi.org/10.1177/2058460118806328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299912PMC
December 2018
2 Reads

[The 467th case: proteinuria, periungual fibromas, and facial steatadenomas].

Zhonghua Nei Ke Za Zhi 2019 Jan;58(1):74-77

Department of Nephrology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.

A 22-year-old manpresented as a refractory nephrotic syndrome with edema and proteinuria for more than one year. Physical examination revealed facial steatadenomas and periungual fibromas. Images were characterized by hamartomatous lesions in multiple organs, including the central nervous system, heart, lungs, liver, and kidneys. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2019.01.014DOI Listing
January 2019
1 Read

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.

Radiology 2019 Mar 1;290(3):769-782. Epub 2019 Jan 1.

From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).

Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]). In children, as opposed to adults, a larger proportion of kidney cysts are due to genetic diseases (eg, HNF1B nephropathy, various ciliopathies, and tuberous sclerosis complex), and fewer patients have simple cysts or acquired cystic kidney disease. The purpose of this consensus statement is to provide clinical guidance on standardization of imaging tests to evaluate kidney cysts in children. Read More

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http://dx.doi.org/10.1148/radiol.2018181243DOI Listing
March 2019
3 Reads
6.867 Impact Factor

Cannabis based drugs: finding the balance between benefit and harm.

Authors:
John C Kingswood

BMJ 2018 Dec 27;363:k5213. Epub 2018 Dec 27.

St George's Medical School and Brighton and Sussex University Hospitals Trust, Sussex Kidney Unit, Royal Sussex County Hospital, Brighton BN2 5BE, UK.

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http://dx.doi.org/10.1136/bmj.k5213DOI Listing
December 2018
2 Reads

Rationally Designed 3D Hydrogels Model Invasive Lung Diseases Enabling High-Content Drug Screening.

Adv Mater 2019 Feb 27;31(7):e1806214. Epub 2018 Dec 27.

Department of Chemical Engineering and Applied Chemistry, Institute of Biomaterials and Biomedical Engineering, University of Toronto, Toronto, Ontario, M5S 3G9, Canada.

Cell behavior is highly dependent upon microenvironment. Thus, to identify drugs targeting metastatic cancer, screens need to be performed in tissue mimetic substrates that allow cell invasion and matrix remodeling. A novel biomimetic 3D hydrogel platform that enables quantitative analysis of cell invasion and viability at the individual cell level is developed using automated data acquisition methods with an invasive lung disease (lymphangioleiomyomatosis, LAM) characterized by hyperactive mammalian target of rapamycin complex 1 (mTORC1) signaling as a model. Read More

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http://dx.doi.org/10.1002/adma.201806214DOI Listing
February 2019
1 Read

Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome.

Saudi J Kidney Dis Transpl 2018 Nov-Dec;29(6):1475-1479

Department of Neurology, Yashoda Hospitals, Secunderabad, Telangana, India.

The mutations associated with polycystic kidney disease are closely aligned with that of tuberous sclerosis (TSC) in chromosome 16. Occasionally, the presence of these mutations in an individual can lead to a presence of a disease phenotype with a combination of polycystic kidney disease and TSC (contiguous gene syndrome). We present a case report of a young girl who presented with skin lesions, central nervous system tubers, and cystic disease of the kidneys. Read More

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http://dx.doi.org/10.4103/1319-2442.248317DOI Listing
December 2018
2 Reads

Development of high-resolution 3D MR fingerprinting for detection and characterization of epileptic lesions.

J Magn Reson Imaging 2018 Dec 23. Epub 2018 Dec 23.

Epilepsy Center, Cleveland Clinic, Cleveland, Ohio, USA.

Background: Conventional MRI can be limited in detecting subtle epileptic lesions or identifying active/epileptic lesions among widespread, multifocal lesions.

Purpose: We developed a high-resolution 3D MR fingerprinting (MRF) protocol to simultaneously provide quantitative T , T , proton density, and tissue fraction maps for detection and characterization of epileptic lesions.

Study Type: Prospective. Read More

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http://dx.doi.org/10.1002/jmri.26319DOI Listing
December 2018
3.210 Impact Factor