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tuberous sclerosis

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https://www.readbyqxmd.com/read/28543842/the-molluscum-pendulum-necklace-sign-in-tuberous-sclerosis-complex-a-case-series-a-pathognomonic-finding
#1
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/28540905/tuberous-sclerosis-complex-bourneville-pringle-disease-in-a-25-year-old-female-with-bilateral-renal-angiomyolipoma-and-secondary-hypertension
#2
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/28529994/rapamycin-increases-length-and-mechanosensory-function-of-primary-cilia-in-renal-epithelial-and-vascular-endothelial-cells
#3
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: Int Educ Res J
https://www.readbyqxmd.com/read/28529525/melatonin-in-tuberous-sclerosis-complex-analysis-using-modern-mathematical-modeling-methods
#4
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
https://www.readbyqxmd.com/read/28524224/-epileptic-encephalopathies-in-infancy-how-do-we-treat-them-does-the-aetiology-influence-the-response-to-treatment
#5
S Roldan
INTRODUCTION: Resistance to treatments is a common feature of Ohtahara, Aicardi, West and Dravet syndromes, as well as malignant migrating epilepsy in infancy. AIMS: To update the therapeutic management and to analyse whether the aetiology somehow determines the treatment. DEVELOPMENT: Convulsive seizures in the first year of life may be due to a potentially treatable aetiology, which makes it essential to carry out a complete evaluation so as to be able to begin, as early as possible, the most suitable and the non-specific symptomatic treatments to control the seizures, which prevents or minimises their deleterious effects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#6
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28516327/long-term-outcomes-of-epilepsy-surgery-in-tuberous-sclerosis-complex
#7
Shuli Liang, Juncheng Zhang, Zhixian Yang, Shaohui Zhang, Zhiqiang Cui, Jianfei Cui, Jiwu Zhang, Na Liu, Ping Ding
Approximately 50% of patients with tuberous sclerosis complex (TSC) present intractable epilepsy, and surgery is an option for those patients. Hereby, we analyze long-term seizure control and neuropsychological outcomes of epilepsy surgery in patients with TSC. Clinical data were retrospectively collected from 66 patients with TSC and epilepsy followed up over 5 years, 51 of whom underwent epilepsy surgery between 2001 and 2011. Reductions in the number of seizures were analyzed at 1-year (1FU), 5-year (5FU), and 10-year (10FU) follow-ups visits after the operation...
May 17, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28516078/subependymal-giant-cell-astrocytoma-presenting-with-tumoral-bleeding-a-case-report
#8
Jae-Young Kim, Tae-Young Jung, Kyung-Hwa Lee, Seul-Kee Kim
We report a rare case of subependymal giant cell astrocytoma (SEGA) associated with tumoral bleeding in a pediatric patient without tuberous sclerosis complex (TSC). A 10-year-old girl presented with a 2-week history of an increasingly aggravating headache. Brain magnetic resonance imaging revealed an approximately 3.6-cm, well-defined, heterogeneously enhancing mass with multistage hemorrhages on the right-sided foramen of Monro. The tumor was completely resected using a transcallosal approach. Intraoperatively, the mass presented as a gray-colored firm tumor associated with acute and subacute hemorrhages...
April 2017: Brain Tumor Research and Treatment
https://www.readbyqxmd.com/read/28515276/assembly-of-the-u5-snrnp-component-prpf8-is-controlled-by-the-hsp90-r2tp-chaperones
#9
Anna Malinová, Zuzana Cvačková, Daniel Matějů, Zuzana Hořejší, Claire Abéza, Franck Vandermoere, Edouard Bertrand, David Staněk, Céline Verheggen
Splicing is catalyzed by the spliceosome, a complex of five major small nuclear ribonucleoprotein particles (snRNPs). The pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome. Using quantitative proteomics, we identified assembly intermediates containing PRPF8, EFTUD2, and SNRNP200 in association with the HSP90/R2TP complex, its ZNHIT2 cofactor, and additional proteins. HSP90 and R2TP bind unassembled U5 proteins in the cytoplasm, stabilize them, and promote the formation of the U5 snRNP...
May 17, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28514607/tuberous-sclerosis-complex
#10
Michele Marchini, Elisabetta Giglio
A 71-year-old man presented to the nephrology department for the evaluation of chronic kidney disease, which had developed during the past 20 years. The patient had received a diagnosis of tuberous sclerosis complex, or Bourneville’s disease, in his late 20s. The physical examination revealed..
May 18, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28511812/acute-management-of-symptomatic-subependymal-giant-cell-astrocytoma-with-everolimus
#11
Monica S Arroyo, Darcy A Krueger, Eileen Broomall, Charles B Stevenson, David N Franz
BACKGROUND: Subependymal giant cell astrocytomas (SEGA) are slow-growing tumors, which can cause obstructive hydrocephalus in patients with tuberous sclerosis complex (TSC). These tumors require routine surveillance with magnetic resonance imaging. Current consensus guidelines recommend treatment of asymptomatic SEGAs with an mechanistic target of rapamycin (mTOR) inhibitor because these medications have demonstrated efficacy and safety in multiple prospective clinical trials. For symptomatic SEGAs, standard therapy typically involves surgical resection of the tumor to relieve mass effect and resolve hydrocephalus...
April 18, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28507627/prenatally-diagnosis-and-outcome-of-fetuses-with-cardiac-rhabdomyoma-single-centre-experience
#12
Ramush Bejiqi, Ragip Retkoceri, Hana Bejiqi
BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size...
April 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28506505/the-utility-of-surveillance-electroencephalography-to-guide-early-antiepileptic-drug-therapy-in-infants-with-tuberous-sclerosis-complex
#13
Robyn Whitney, Saber Jan, Maria Zak, Bláthnaid McCoy
BACKGROUND: Seizures are a common early presentation in infants with tuberous sclerosis complex (TSC) and can be preceded by electrographic changes on electroencephalography (EEG) before clinical seizure onset. A limited number of studies have addressed the initial EEG findings in TSC and the outcome of early treatment with antiepileptic medication prior to clinical seizure onset. METHODS: We describe two infants with tuberous sclerosis complex whose surveillance EEG showed focal seizures that were not previously recognized by caregivers...
April 18, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28504501/-bowel-obstruction-by-hamartomatous-polyp-in-a-pediatric-patient-with-tuberous-sclerosis
#14
Adriana V Scrigni, Adriana Bottero, Andrea Bosaleh, Nuria Aisenberg, Marcela Paglia, Lisandro Manfrin, Tai C Luong
Tuberous sclerosis is an autosomal dominant disorder with a wide clinical spectrum of disease. It is characterized by development of benign tumors in multiple organs due to a disturbance in cellular growth and differentiation. It usually affects skin, brain, heart and kidney. Gastrointestinal involvement is rare and mainly restricted to adults and sigmoid colon and rectum. In children there are only two cases; our patient would be the third. We present a patient with tuberous sclerosis who began at the first month of life with repeated intestinal subocclusion...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502378/long-term-treatment-of-cutaneous-manifestations-of-tuberous-sclerosis-complex-with-topical-1-sirolimus-cream-a-prospective-study-of-25-patients
#15
Nausicaa Malissen, Laurence Vergely, Marguerite Simon, Agathe Roubertie, Marie-Claire Malinge, Didier Bessis
BACKGROUND: Data on long-term topical sirolimus treatment of the cutaneous manifestations of tuberous sclerosis complex are rare. OBJECTIVE: To evaluate the long-term benefit and tolerance of topical 1% sirolimus in tuberous sclerosis complex. METHODS: In this 18-month prospective single-center study, 1% sirolimus cream was applied daily to facial angiofibromas (FAs), fibrous cephalic plaques (FCPs), shagreen patches, hypomelanotic macules, and ungual fibromas...
May 10, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28499058/association-of-myelinated-retinal-nerve-fibers-with-acquired-mulberry-retinal-astrocytoma-coincidental-or-relational
#16
Ravi Bypareddy, Brijesh Takkar, Monica Lohchab, Shorya Vardhan Azad, Rohan Chawla
Retinal astrocytoma is an important ocular finding for diagnosis of tuberous sclerosis complex and is also an association of neurofibromatosis. The authors present findings of a case of acquired astrocytoma associated with myelinated retinal nerve fibers. The authors also discuss the images and possible cause-effect relationship between them. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:441-442.].
May 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28498973/chordoma-occurs-in-young-children-with-tuberous-sclerosis
#17
Nathan A Dahl, Timothy Luebbert, Michele Loi, Ilana Neuberger, Michael H Handler, Bette Kay Kleinschmidt-DeMasters, Jean M Mulcahy Levy
Chordomas are rare bony neoplasms usually unassociated with a familial tumor predisposition syndrome. The peak incidence of this midline axial skeletal tumor is in adulthood but when very young children are affected, consideration should be given to occurrence within the tuberous sclerosis (TS) complex, especially when presenting in neonates <3 months of age. To call attention to this association, we present a brachyury-immunopositive chordoma occurring in the skull base of a 2-month-old male infant who was later realized to have metastases to the subcutaneous tissues and lungs, as well as rhabdomyoma of the heart and renal cysts/angiomyolipomas, that is, characteristic features of the TS complex...
June 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28498820/lysosomal-regulation-of-cholesterol-homeostasis-in-tuberous-sclerosis-complex-is-mediated-via-npc1-and-ldl-r
#18
Harilaos Filippakis, Nicola Alesi, Barbara Ogorek, Julie Nijmeh, Damir Khabibullin, Catherine Gutierrez, Alexander J Valvezan, James Cunningham, Carmen Priolo, Elizabeth P Henske
Tuberous sclerosis complex (TSC) is a multisystem disease associated with hyperactive mTORC1. The impact of TSC1/2 deficiency on lysosome-mediated processes is not fully understood. We report here that inhibition of lysosomal function using chloroquine (CQ) upregulates cholesterol homeostasis genes in TSC2-deficient cells. This TSC2-dependent transcriptional signature is associated with increased accumulation and intracellular levels of both total cholesterol and cholesterol esters. Unexpectedly, engaging this CQ-induced cholesterol uptake pathway together with inhibition of de novo cholesterol synthesis allows survival of TSC2-deficient, but not TSC2-expressing cells...
April 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28496353/early-manifestations-of-renal-disease-in-patients-with-tuberous-sclerosis-complex
#19
Laura Malaga-Dieguez, Robert Spencer, Laura J Pehrson, Suzanne Vento, Kimberly Menzer, Orrin Devinsky, Howard Trachtman
OBJECTIVES: Renal manifestations are the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC), and include renal cysts, angiomyolipomas, fat-poor lesions, and malignant tumors. These lesions begin in childhood and often lead to chronic kidney disease (CKD). Little is known on the incidence of early modifiable risk factors of CKD, such as proteinuria and hypertension, or subtle decreases in glomerular filtration rate that correspond to the early stages of CKD in children with TSC...
2017: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/28493804/hereditary-renal-cystic-disorders-imaging-of-the-kidneys-and-beyond
#20
Jonathan R Dillman, Andrew T Trout, Ethan A Smith, Alexander J Towbin
The purpose of this article is to review the hereditary renal cystic diseases that can manifest in children and adults, with specific attention to pathogenesis and imaging features. Various common and uncommon hereditary renal cystic diseases are reviewed in terms of their underlying etiology, including the involved genetic mutations and the affected proteins and cellular structures. Focus is placed on the morphologic findings in each condition and the features that distinguish one disorder from another. The two most common categories of hereditary renal cystic disease are (a) the ciliopathic disorders, which are related to mutations affecting the primary cilia (called "ciliopathies"), and (b) the phakomatoses...
May 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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