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https://www.readbyqxmd.com/read/28626124/two-cases-of-tuberous-sclerosis-complex-suggestive-of-complicating-multifocal-micronodular-pneumocyte-hyperplasia-a-case-report
#1
Chinatsu Nishida, Kazuhiro Yatera, Takashi Kido, Shingo Noguchi, Kentaro Akata, Minako Hanaka, Kei Yamasaki, Teppei Hoshino, Masayuki Shimono, Hiroshi Ishimoto, Noriho Sakamoto, Hiroshi Mukae
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. MMPH tends to progress slowly and needs no treatment. We herein describe two cases of MMPH with its characteristic radiological features and clinical manifestations of TSC. Case 1: a 20-year-old female with definitive TSC in infancy...
2017: Journal of UOEH
https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#2
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
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 (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28616385/neurophysiological-evidence-of-preserved-connectivity-in-tuber-tissue
#3
H L Kaye, J M Peters, R Gersner, M Chamberland, A Sansevere, A Rotenberg
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. The resulting functional motor map revealed expected corticospinal connectivity in the left precentral gyrus...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28604944/the-influence-of-graves-orbitopathy-treatment-with-intravenous-glucocorticoids-on-adrenal-function
#4
Urszula Ambroziak, Gabriela Bluszcz, Tomasz Bednarczuk, Piotr Miśkiewicz
INTRODUCTION: Graves' orbitopathy (GO) is the commonest extrathyroidal feature of Graves' disease. For active, moderate to severe GO intravenous glucocorticoid pulse therapy (ivGCS) is the first-line treatment, which might be followed by oral glucocorticoid therapy. Glucocorticoid treatment, especially in the time of withdrawal, carries a risk of adrenal insufficiency. The aim of this study was to assess the pituitary-adrenal axis function in patients with GO before and at the cessation of ivGCS, and after further oral glucocorticoid therapy...
June 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28602596/brain-sodium-mri-in-human-epilepsy-disturbances-of-ionic-homeostasis-reflect-the-organization-of-pathological-regions
#5
Ben Ridley, Angela Marchi, Jonathan Wirsich, Elisabeth Soulier, Sylviane Confort-Gouny, Lothar Schad, Fabrice Bartolomei, Jean-Philippe Ranjeva, Maxime Guye, Wafaa Zaaraoui
In light of technical advancements supporting exploration of MR signals other than (1)H, sodium ((23)Na) has received attention as a marker of ionic homeostasis and cell viability. Here, we evaluate for the first time the possibility that (23)Na-MRI is sensitive to pathological processes occurring in human epilepsy. A normative sample of 27 controls was used to normalize regions of interest (ROIs) from 1424 unique brain locales on quantitative (23)Na-MRI and high-resolution (1)H-MPRAGE images. ROIs were based on intracerebral electrodes in ten patients undergoing epileptic network mapping...
June 7, 2017: NeuroImage
https://www.readbyqxmd.com/read/28600079/synthesis-antiviral-evaluation-and-molecular-docking-studies-of-n-4-aryl-substituted-unsubstituted-thiosemicarbazones-derived-from-1-indanones-as-potent-anti-bovine-viral-diarrhea-virus-agents
#6
María C Soraires Santacruz, Matías Fabiani, Eliana F Castro, Lucía V Cavallaro, Liliana M Finkielsztein
A series of N(4)-arylsubstituted thiosemicarbazones derived from 1-indanones and a set of compounds lacking such substitution in the N(4) position of the thiosemicarbazone moiety were synthesized and evaluated for their anti-bovine viral diarrhea virus (BVDV) activity. Among these, derivatives 2 and 15 displayed high activity (EC50=2.7±0.4 and 0.7±0.1µM, respectively) as inhibitors of BVDV replication. Novel key structural features related to the anti-BVDV activity were identified by structure-activity relationship (SAR) analysis...
May 27, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28598544/dermatological-manifestations-of-tuberous-sclerosis-complex-tsc
#7
REVIEW
Daniel Ebrahimi-Fakhari, Sascha Meyer, Thomas Vogt, Claudia Pföhler, Cornelia Sigrid Lissi Müller
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. Detailed clinical dermatological evaluation at the time of diagnosis and annual skin examination is recommended for both pediatric and adult populations...
June 9, 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28588230/characterization-of-developmental-defects-in-the-forebrain-resulting-from-hyperactivated-mtor-signaling-by-integrative-analysis-of-transcriptomic-and-proteomic-data
#8
Jiheon Shin, Minhyung Kim, Hee-Jung Jung, Hye Lim Cha, Haeyoung Suh-Kim, Sanghyun Ahn, Jaehoon Jung, YounAh Kim, Yukyung Jun, Sanghyuk Lee, Daehee Hwang, Jaesang Kim
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. Here, we present an integrated analysis of transcriptomes and proteomes generated from wild-type and Tsc1/Emx1-Cre forebrains...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28569398/sodium-mri-of-t1-high-signal-intensity-in-the-dentate-nucleus-due-to-gadolinium-deposition-in-multiple-sclerosis
#9
Philipp Eisele, Simon Konstandin, Kristina Szabo, Melissa Ong, Frank Zöllner, Lothar R Schad, Stefan O Schoenberg, Achim Gass
BACKGROUND AND PURPOSE: Recently, several studies reported increased signal intensity (SI) of the dentate nucleus (DN) on unenhanced T1-weighted magnetic resonance imaging (MRI) as a possible consequence of multiple applications of gadolinium-based contrast agents. The aim of this study was to investigate with sodium ((23) Na) MRI possible tissue abnormalities of the DN in multiple sclerosis (MS) patients. METHODS: Sodium and conventional MRI were performed on a clinical 3T scanner...
June 1, 2017: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/28561066/wipi3-and-wipi4-%C3%AE-propellers-are-scaffolds-for-lkb1-ampk-tsc-signalling-circuits-in-the-control-of-autophagy
#10
Daniela Bakula, Amelie J Müller, Theresia Zuleger, Zsuzsanna Takacs, Mirita Franz-Wachtel, Ann-Katrin Thost, Daniel Brigger, Mario P Tschan, Tancred Frickey, Horst Robenek, Boris Macek, Tassula Proikas-Cezanne
Autophagy is controlled by AMPK and mTOR, both of which associate with ULK1 and control the production of phosphatidylinositol 3-phosphate (PtdIns3P), a prerequisite for autophagosome formation. Here we report that WIPI3 and WIPI4 scaffold the signal control of autophagy upstream of PtdIns3P production and have a role in the PtdIns3P effector function of WIPI1-WIPI2 at nascent autophagosomes. In response to LKB1-mediated AMPK stimulation, WIPI4-ATG2 is released from a WIPI4-ATG2/AMPK-ULK1 complex and translocates to nascent autophagosomes, controlling their size, to which WIPI3, in complex with FIP200, also contributes...
May 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/28557245/everolimus-in-pregnancy-case-report-and-literature-review
#11
Mie Yamamura, Takashi Kojima, Masayuki Koyama, Ataru Sazawa, Takahiro Yamada, Hisanori Minakami
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. To control AML in this patient, transarterial embolization was performed in the right and left kidneys at GW 21 and 24, respectively, and everolimus was reinitiated at GW 25...
May 29, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28547571/clinical-presentations-and-molecular-studies-of-invasive-renal-epithelioid-angiomyolipoma
#12
Cheng-Keng Chuang, Hsin Chia Angela Lin, Han-Yu Tasi, Kun-Han Lee, Yuting Kao, Fukai Leo Chuang, Ying-Hsu Chang, Po-Hung Lin, Chung-Yi Liu, See-Tong Pang
PURPOSE: Epithelioid angiomyolipoma (EAML) is a rare variant of renal angiomyolipoma with malignant potential, and the cytogenetic and clinical behavior of EAML remains a challenging issue. METHODS: We retrospectively analyze the clinical courses of five EAML, the use of everolimus on metastatic EAML, and next-generation sequencing (NGS) and polymerase chain reaction (PCR) studies to investigate the gene mutation of TSC and the impact of PI3K/Akt/mTOR signaling pathway in metastatic EAML...
May 25, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28543842/the-molluscum-pendulum-necklace-sign-in-tuberous-sclerosis-complex-a-case-series-a-pathognomonic-finding
#13
Chloé Sachs, Dan Lipsker
Molluscum pendulum (MP) are a very common finding in the general population. They can be a marker of abnormal glucose metabolism(1,2) or a classical sign of tuberous sclerosis complex (TSC) (3). Here we reported the occurrence of multiple MP located in the posterior neck with a peculiar arrangement in a series of patients with TSC. This article is protected by copyright. All rights reserved.
May 23, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28541235/rates-of-childhood-trauma-in-a-sample-of-university-students-in-greece-the-greek-version-of-the-early-trauma-inventory-self-report
#14
Z Antonopoulou, G Konstantakopoulos, M Τzinieri-Coccosis, C Sinodinou
The self-report Early Trauma Inventory (ETI-SR-SF) was developed by Bremner et al in 2007 and has been proven a valid tool for the assessment of childhood trauma. The inventory covers four types of traumatic experiences: general trauma, physical abuse, emotional abuse and sexual abuse. The primary aim of the present study was to assess the internal consistency, test-retest reliability, convergent validity and factor structure of the Greek version of the ETI-SR-SF. The study sample consisted of 605 individuals (402 women), undergraduate and postgraduate students of Athens universities with a mean age of 24...
January 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/28540905/tuberous-sclerosis-complex-bourneville-pringle-disease-in-a-25-year-old-female-with-bilateral-renal-angiomyolipoma-and-secondary-hypertension
#15
Sahar El Aoud, Faten Frikha, Mouna Snoussi, Raida Ben Salah, Zouhir Bahloul
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. Physical examination showed dermatological signs that included hypopigmented maculae, shagreen plaque, angiofibromas on the centrofacial areas, periungual fibromas on toes, and molluscum pendulum around the neck...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28534200/atrophy-of-calf-muscles-by-unloading-results-in-an-increase-of-tissue-sodium-concentration-and-fat-fraction-decrease-a-23-na-mri-physiology-study
#16
D A Gerlach, K Schopen, P Linz, B Johannes, J Titze, J Zange, J Rittweger
PURPOSE: (23)Na MRI demonstrated increased tissue sodium concentrations in a number of pathologies. Acute atrophy results in muscle fibre volume shrinking that may result in a relative increase of extracellular volume and might affect sodium concentration. Thus, we hypothesized that local unloading of the calf muscles would lead to a decrease in muscle volume and an increase in muscle tissue sodium concentration. METHOD: One lower leg of 12 healthy male subjects was submitted to a 60 day long period of unloading using the Hephaistos orthosis, while the other leg served as control...
May 22, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28533642/hepatic-pseudolesion-in-svc-obstruction-99m-technetium-sulfur-colloid-scan-equivalent-of-quadrate-lobe-hot-spot-sign-on-computerized-tomography
#17
Reddy Ravikanth, Arun George, Babu Philip
An area of increased activity in segment IV of liver (quadrate lobe) on (99m)Tc-sulfur colloid (TSC) scans has been well documented in patients with superior vena cava obstruction. Similarly intense enhancement of the quadrate lobe in the arterial phase may be seen on computed tomography in patients of superior vena cava syndrome. We present this imaging finding in a case of malignant thymoma causing superior vena cava syndrome and discuss the physiological cause and importance of this sign.
April 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28530091/3d-bioprinting-of-highly-thixotropic-alginate-methylcellulose-hydrogel-with-strong-interface-bonding
#18
Huijun Li, Yu Jun Tan, Kah Fai Leong, Lin Li
A robust alginate/methylcellulose (Alg/MC) blend hydrogel, with a strategy to improve adhesion between printed layers, has been fabricated for the first time for three-dimensional (3D) bioprinting. The optimized Alg/MC blend hydrogel exhibits a highly thixotropic property, great extrudability, and stackability. With treatment by a trisodium citrate (TSC) solution, the interfacial bonding between the printed layers is significantly improved. The TSC solution acts as a chelating agent to remove the superficial calcium ions at each layer...
June 5, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28529994/rapamycin-increases-length-and-mechanosensory-function-of-primary-cilia-in-renal-epithelial-and-vascular-endothelial-cells
#19
Rinzhin T Sherpa, Kimberly F Atkinson, Viviana P Ferreira, Surya M Nauli
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. Rapamycin, a potent inhibitor of mTOR (mammalian target of rapamycin), has been demonstrated to be a potential pharmacological agent against the aberrant mTOR signaling seen in ciliopathies such as polycystic kidney disease (PKD) and tuberous sclerosis complex (TSC)...
December 2016: International education and research journal
https://www.readbyqxmd.com/read/28529525/melatonin-in-tuberous-sclerosis-complex-analysis-using-modern-mathematical-modeling-methods
#20
Justyna Paprocka, Marek Kijonka, Łukasz Boguszewicz, Maria Sokół
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. Melatonin secretion was measured every three hours using the RIA method in four children with recognized TSC. The parameters of the melatonin secretion models were interpreted and compared with those obtained for the patients with epilepsy (n = 76) and the children from the control, nonepileptic group (n = 36)...
2017: International Journal of Endocrinology
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