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tuberous sclerosis

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https://www.readbyqxmd.com/read/28439198/assessment-of-tumors-in-children-with-tuberous-sclerosis-a-single-centre-s-experience
#1
Suna Emir, Şadan Hacısalihoğlu, Derya Özyörük, Filiz Ekici, Aydan Değerliyurt, Alev Güven, İlker Çetin
AIM: As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is overactivated in patients with tuberous sclerosis. Abnormal cell proliferation and differentiation is responsible for the growth several different tumors. The aim of this study was to review tumors in our patients with tuberous sclerosis. MATERIAL AND METHODS: Thirty-six patients with tuberous sclerosis were reviewed retrospectively in terms of age, sex, family history, clinical findings, presence of tumors, and treatments...
March 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28435768/cortical-blindness-as-severe-neuro-ophthalmological-manifestation-of-tuberous-sclerosis-complex
#2
Alvaro I Ortiz Z, Pedro Luis Cárdenas, Luis C Escaf, Marcela Peralta
Patients with retinal lesions related to tuberous sclerous complex (TSC) commonly have no impairment of visual acuity. We present a case of a 1-year-old Hispanic girl with TSC in which bilateral cortical blindness is documented.
2017: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/28427592/pathologic-active-mtor-mutation-in-brain-malformation-with-intractable-epilepsy-leads-to-cell-autonomous-migration-delay
#3
Sae Hanai, Sayuri Sukigara, Hongmei Dai, Tomoo Owa, Shin-Ichi Horike, Taisuke Otsuki, Takashi Saito, Eiji Nakagawa, Naoki Ikegaya, Takanobu Kaido, Noriko Sato, Akio Takahashi, Kenji Sugai, Yuko Saito, Masayuki Sasaki, Mikio Hoshino, Yu-Ichi Goto, Schuichi Koizumi, Masayuki Itoh
The activation of phosphatidylinositol 3-kinase-AKTs-mammalian target of rapamycin cell signaling pathway leads to cell overgrowth and abnormal migration and results in various types of cortical malformations, such as hemimegalencephaly (HME), focal cortical dysplasia, and tuberous sclerosis complex. However, the pathomechanism underlying abnormal cell migration remains unknown. With the use of fetal mouse brain, we performed causative gene analysis of the resected brain tissues from a patient with HME and investigated the pathogenesis...
May 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#4
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28424926/erratum-to-co2-erbium-yag-dye-laser-combination-an-effective-and-successful-treatment-for-angiofibromas-in-tuberous-sclerosis
#5
Paolo Fioramonti, Liliana De Santo, Martina Ruggieri, Sara Carella, Federico Lo Torto, Maria Giuseppina Onesti, Nicolò Scuderi
No abstract text is available yet for this article.
April 19, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28417046/re-coexistence-of-autism-spectrum-disorders-among-three-children-with-tuberous-sclerosis-complex-case-reports-and-review-of-literature
#6
COMMENT
Mahmood D Al-Mendalawi
No abstract text is available yet for this article.
February 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28415776/targeting-protein-homeostasis-with-nelfinavir-salinomycin-dual-therapy-effectively-induces-death-of-mtorc1-hyperactive-cells
#7
Elaine A Dunlop, Charlotte E Johnson, Marie Wiltshire, Rachel J Errington, Andrew R Tee
Uncontrolled cell growth in Tuberous Sclerosis Complex occurs due to inappropriate activation of mechanistic (mammalian) target of rapamycin complex 1 (mTORC1). The current therapy, rapamycin, produced promising clinical trial results, but patient tumours regrow if treatment is discontinued, revealing rapamycin has cytostatic properties rather than a cytotoxic effect. Taking advantage of the enhanced levels of endoplasmic reticulum (ER) stress present in TSC2-null cells, we investigated drug combinations producing a cytotoxic response...
March 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28414661/delayed-presentation-of-tuberour-sclerosis-complex-in-adult-women
#8
J Manalac, S Sadd, G Akoghlanian, T Benoit-Clark
INTRODUCTION: Tuberous sclerosis complex (TSC); is an autosomal dominant disorder characterized by the formation of hamartomatous lesions in multiple organs, with a birth incidence of around one in 10,000. Although it usually manifests itself in early life, we present a case of an adult woman who we diagnosed with TSC. CASE: A 27 year old woman presented to Emergency Department with worsening right flank pain and progressive dyspnea. Physical examination findings revealed Shagreen patches and multiple angiomyolipomas of the skin...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#9
Stephanie Carapetian Randle
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28411579/self-injury-and-aggression-in-adults-with-tuberous-sclerosis-complex-frequency-associated-person-characteristics-and-implications-for-assessment
#10
Lucy Wilde, Kate Eden, Petrus de Vries, Jo Moss, Alice Welham, Chris Oliver
Even though self-injury and aggression are common in tuberous sclerosis complex (TSC), understanding of these behaviours in adults with TSC and intellectual disability (ID) is limited. Little is known about their frequency in comparison to other ID-related genetic disorders or their association with other TSC-Associated Neuropsychiatric Disorders (TAND). This study determined the caregiver-reported frequency of self-injury and aggression in adults with TSC plus ID in comparison to Down syndrome (DS) and Angelman syndrome (AS), and assessed demographic and behavioural characteristics associated with the occurrence of each behaviour in TSC...
April 12, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28409891/functional-validation-of-the-oncogenic-cooperativity-and-targeting-potential-of-tuberous-sclerosis-mutation-in-medulloblastoma-using-a-myc-amplified-model-cell-line
#11
Jacob J Henderson, Jacob P Wagner, Nicolle E Hofmann, Christopher A Eide, Yoon-Jae Cho, Brian J Druker, Monika A Davare
Medulloblastoma is the most common malignant brain tumor of childhood. To identify targetable vulnerabilities, we employed inhibitor screening that revealed mTOR inhibitor hypersensitivity in the MYC-overexpressing medulloblastoma cell line, D341. Concomitant exome sequencing unveiled an uncharacterized missense mutation, TSC2(A415V) , in these cells. We biochemically demonstrate that the TSC2(A415V) mutation is functionally deleterious, leading to shortened half-life and proteasome-mediated protein degradation...
April 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28409752/early-appearance-of-tuberous-sclerosis-complex-on-cerebral-ultrasound-in-extremely-preterm-infant
#12
E B F Terpstra-Prinsen, K Kamphuis-Van Ulzen, K D Liem
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Diagnosis of early onset TSC in newborn infants is usually made by cardiac ultrasound because of circulatory problems due to cardiac rhabdomyoma. Early appearance of cortical tubers on cerebral ultrasound in newborn infants is very rare. Mostly TSC is diagnosed on MRI and not by cerebral ultrasound. Subependymal nodules are the usual presenting sign of TSC on cerebral ultrasound in neonates, which are often misdiagnosed as subependymal hemorrhage, calcifications or ischemic lesions after intrauterine germinal matrix hemorrhage...
April 8, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28406046/depdc5-as-a-potential-therapeutic-target-for-epilepsy
#13
Kenneth A Myers, Ingrid E Scheffer
Dishevelled, Egl-10 and Pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a protein subunit of the GTPase-activating proteins towards Rags 1 (GATOR1) complex. GATOR1 is a recently identified modulator of mechanistic target of rapamycin (mTOR) activity. mTOR is a key regulator of cell proliferation and metabolism; disruption of the mTOR pathway is implicated in focal epilepsy, both acquired and genetic. Tuberous sclerosis is the prototypic mTOR genetic syndrome with epilepsy, however GATOR1 gene mutations have recently been shown to cause lesional and non-lesional focal epilepsy...
April 13, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28405209/tuberous-sclerosis-associated-with-multiple-hepatic-lipomatous-tumours
#14
D Calleja-Stafrace, C Vella
No abstract text is available yet for this article.
October 2016: Images in Paediatric Cardiology
https://www.readbyqxmd.com/read/28400571/moderate-lifelong-overexpression-of-tuberous-sclerosis-complex-1-tsc1-improves-health-and-survival-in-mice
#15
Hong-Mei Zhang, Vivian Diaz, Michael E Walsh, Yiqiang Zhang
The tuberous sclerosis complex 1/2 (TSC1/2) is an endogenous regulator of the mechanistic target of rapamycin (mTOR). While mTOR has been shown to play an important role in health and aging, the role of TSC1/2 in aging has not been fully investigated. In the current study, a constitutive TSC1 transgenic (Tsc1 (tg) ) mouse model was generated and characterized. mTORC1 signaling was reduced in majority of the tissues, except the brain. In contrast, mTORC2 signaling was enhanced in Tsc1 (tg) mice. Tsc1 (tg) mice are more tolerant to exhaustive exercises and less susceptible to isoproterenol-induced cardiac hypertrophy at both young and advanced ages...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28397210/-analysis-of-tsc-gene-mutations-in-five-patients-with-tuberous-sclerosis-complex
#16
Linli Liu, Zhengzhong Zhang, Yunzhu Mu, Fen Xiong, Hao Yang, Ping Yang, Yiping Liu, Xing Chen, Weichi Sui
OBJECTIVE: To identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC). METHODS: For five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing. RESULTS: For one family, a novel missense mutation c.1964C>T (p.S655F) was detected in the exon 19 of the TSC2 gene. For the sporadic patient, a repeat substitution with deletion mutation c...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28395677/tuberous-sclerosis-complex-in-the-western-cape-south-africa-the-clinical-presentation-features
#17
E Kija, B Schlegel, P Samia, M Wessels, J M Wilmshurst
Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the presenting features of children with TSC in Cape Town, South Africa. A cross-sectional study was conducted at a TSC clinic, and clinical features at presentation were prospectively collected. Thirty-nine children (23 boys; median age 10 (range 1 - 26) years; median diagnosis age 16 (0 - 153) months) were recruited. Twenty-one (54%) children presented with focal seizures...
March 29, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28387735/tcs2-increases-olaquindox-induced-apoptosis-by-upregulation-of-ros-production-and-downregulation-of-autophagy-in-hek293-cells
#18
Daowen Li, Kena Zhao, Xiayun Yang, Xilong Xiao, Shusheng Tang
Olaquindox, a feed additive, has drawn public attention due to its potential mutagenicity, genotoxicity, hepatoxicity and nephrotoxicity. The purpose of this study was to investigate the role of tuberous sclerosis complex (TSC2) pathways in olaquindox-induced autophagy in human embryonic kidney 293 (HEK293) cells. The results revealed that olaquindox treatment reduced the cell viability of HEK293 cells and downregulated the expression of TSC2 in a dose- and time-dependent manner. Meanwhile, olaquindox treatment markedly induced the production of reactive oxygen species (ROS), cascaded to autophagy, oxidative stress, and apoptotic cell death, which was effectively eliminated by the antioxidant N-acetylcysteine (NAC)...
April 7, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28386925/vagus-nerve-stimulation-surgical-technique-of-implantation-and-revision-and-related-morbidity
#19
Flavio Giordano, Anna Zicca, Carmen Barba, Renzo Guerrini, Lorenzo Genitori
Indications for vagus nerve stimulation (VNS) therapy include focal, multifocal epilepsy, drop attacks (tonic/atonic seizures), Lennox-Gastaut syndrome, tuberous sclerosis complex (TSC)-related multifocal epilepsy, and unsuccessful resective surgery. Surgical outcome is about 50-60% for seizures control, and may also improve mood, cognition, and memory. On this basis, VNS has also been proposed for the treatment of major depression and Alzheimer's' disease. The vagus nerve stimulator must be implanted with blunt technique on the left side to avoid cardiac side effects through the classic approach for anterior cervical discectomy...
April 2017: Epilepsia
https://www.readbyqxmd.com/read/28386314/recent-advances-and-challenges-of-mtor-inhibitors-use-in-the-treatment-of-patients-with-tuberous-sclerosis-complex
#20
REVIEW
Filipe Palavra, Conceição Robalo, Flávio Reis
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of benign, noninvasive, and tumor-like lesions called hamartomas that can affect multiple organ systems and are responsible for the clinical features of the disease. In the majority of cases, TSC results from mutations in the TSC1 and TSC2 genes, leading to the overactivation of the mammalian target of rapamycin (mTOR) signalling pathway, which controls several cell functions, including cell growth, proliferation, and survival...
2017: Oxidative Medicine and Cellular Longevity
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