Read by QxMD icon Read

tuberous sclerosis

Marina Flotats-Bastardas, Daniel Ebrahimi-Fakhari, Ludwig Gortner, Martin Poryo, Michael Zemlin, Alfons Macaya-Ruiz, Sascha Meyer
Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982-2015, and at Saarland University Medical Center [UKS], Homburg, Germany, 1998-2015) to assess prevalence and treatment of TSC associated manifestations and to evaluate if the follow-up was in line with published recommendations. This was considered if more than 15% of patients did not receive adequate examination with regard to potential organ involvement...
March 20, 2018: Neuropediatrics
Laiz Laura de Godoy, César Augusto Pinheiro Ferreira Alves
No abstract text is available yet for this article.
March 20, 2018: Neurology
Yan Wang, Wenbin Xu, Zixun Yan, Weili Zhao, Jianqing Mi, Junmin Li, Hua Yan
BACKGROUND: Metformin is a commonly used drug for the treatment of diabetes. Accumulating evidence suggests that it exerts anti-tumor effects in many cancers, including multiple myeloma (MM); however, the underlying molecular mechanisms have not been clearly elucidated. METHODS: The anti-myeloma effects of metformin were evaluated using human MM cell lines (RPMI8226 and U266) in vitro and in vivo NOD-SCID murine xenograft MM model. Cell viability was assessed with CCK8 and cell proliferation was measured by EdU incorporation assay...
March 20, 2018: Journal of Experimental & Clinical Cancer Research: CR
Chang-Ching Wei, Ji-Nan Sheu, Jung-Tung Liu, Sheng-Hui Yang, I-Ching Chou, Jeng-Dau Tsai
BACKGROUND: Seizures in tuberous sclerosis complex (TSC) tend to be intractable over time and become a subsequent psychological burden for the patients. The purpose of the current study was to describe the onset, phenotype, and factors associated with seizure remission in patients with TSC. METHODS: Patients diagnosed with TSC between 2009 and 2015 completed a questionnaire interview and underwent a systematic evaluation, including a medical review of their epilepsy history and neurobehavioral disorder assessment...
March 15, 2018: Journal of the Chinese Medical Association: JCMA
Virendra N Sehgal, Navjeeven Singh, Sonal Sharma, Jolly Rohatgi, Rakesh Oberai, Kingshuk Chatterjee
An 11-year-old girl presented with an insidiously evolving, reddish-brown, small, hard, elevated lesion, occupying the midsection of her face, which had been present since early childhood. There were also a few small white spots over the trunk. There was no history of seizures or visual deficit, and no burning on exposure to sunlight. There were no known congenital defect noted at birth, and her parents were nonconsanguineous. There was no significant family history. There were numerous 2- to 4-mm reddish-brown papules located symmetrically on the nose, nasolabial folds, and cheeks (Figure 1A)...
2018: Skinmed
Kun-Han Lee, Han-Yu Tsai, Yu-Ting Kao, Hsin-Chia Lin, Yi-Chun Chou, Shih-Huan Su, Cheng-Keng Chuang
OBJECTIVES: To analyze and present the demography, clinical behavior, especially the risk factors of tumor hemorrhage and management of sporadic angiomyolipoma (SAML), tuberous sclerosis complex associated angiomyolipoma (TSCAML) and epithelioid angiomyolipoma (EAML) in our institution. METHODS: A retrospective study of 587 patients who were diagnosed with renal angiomyolipoma in our institution between January 2000 and May 2015 was done. The AMLs were diagnosed by ultrasonography, CT, or MRI...
March 14, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Carla Lorena Vasques Mendes de Miranda, Camila Soares Moreira de Sousa, Breno Braga Bastos, Carla Valeria Vasques Mendes de Miranda, Francisco Edward Mont'Alverne Filho
No abstract text is available yet for this article.
January 2018: Radiologia Brasileira
Yi Cai, Wenda Wang, Hao Guo, Hanzhong Li, Yu Xiao, Yushi Zhang
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by tumor formation in multiple organs, with over 80% of TSC patients developing angiomyolipomas (TSC-AMLs). However, the molecular events that contribute to TSC-AMLs are not well understood. Recent reports have demonstrated that microRNAs (miRNAs) are critical in TSC cortical tubers. However, little is known about the role of miRNAs in TSC-AMLs. In the current study, we analyzed changes in the miRNA and mRNA profiles in TSC-AMLs and matched normal adjacent tissues...
March 14, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
Loren Leclezio, Sugnet Gardner-Lubbe, Petrus J de Vries
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with multisystem involvement. The lifetime prevalence of TSC-Associated Neuropsychiatric Disorders (TAND) is in the region of 90% in an apparently unique, individual pattern. This "uniqueness" poses significant challenges for diagnosis, psycho-education, and intervention planning. To date, no studies have explored whether there may be natural clusters of TAND. The purpose of this feasibility study was (1) to investigate the practicability of identifying natural TAND clusters, and (2) to identify appropriate multivariate data analysis techniques for larger-scale studies...
January 31, 2018: Pediatric Neurology
Federica Iezzi, Andrea Quarti, Alessandro Capestro, Francesca Chiara Surace, Marco Pozzi
INTRODUCTION: Rhabdomyomas are the most frequent cardiac tumors in children. Furthermore, they are often associated to tuberous sclerosis complex, an autosomal dominant neurocutaneous disorder characterized by tumor-like malformations that involve many organ systems. PRESENTATION OF THE CASE: We describe a rare ECG pattern in a severe case of neonatal tuberous sclerosis complex. DISCUSSION: In the presence of significant rhabdomyomatosis related to tuberous sclerosis, multiple clusters of rhabdomyoma-like cells can infiltrate the myocardium, with increased fibrosis areas...
February 23, 2018: International Journal of Surgery Case Reports
Barbara Ogórek, Hilaire C Lam, Damir Khabibullin, Heng-Jia Liu, Julie Nijmeh, Robinson Triboulet, David J Kwiatkowski, Richard I Gregory, Elizabeth P Henske
Tuberous Sclerosis Complex (TSC) is an autosomal dominant disease caused by germline inactivating mutations of TSC1 or TSC2. In TSC-associated tumors of the brain, heart, skin, kidney, and lung, inactivation of both alleles of TSC1 or TSC2 leads to hyperactivation of the mTORC1 pathway. The TSC/mTORC1 pathway is a key regulator of cellular processes related to growth, proliferation and autophagy. We and others have previously found that mTORC1 regulates microRNA biogenesis, but the mechanisms are not fully understood...
March 2, 2018: Human Molecular Genetics
Yong Wang, Juan Liu, Jie-Sen Zhou, Hua-Qiong Huang, Zhou-Yang Li, Xu-Chen Xu, Tian-Wen Lai, Yue Hu, Hong-Bin Zhou, Hai-Pin Chen, Song-Min Ying, Wen Li, Hua-Hao Shen, Zhi-Hua Chen
Airway epithelial cell death and inflammation are pathological features of chronic obstructive pulmonary disease (COPD). Mechanistic target of rapamycin (MTOR) is involved in inflammation and multiple cellular processes, e.g., autophagy and apoptosis, but little is known about its function in COPD pathogenesis. In this article, we illustrate how MTOR regulates cigarette smoke (CS)-induced cell death, airway inflammation, and emphysema. Expression of MTOR was significantly decreased and its suppressive signaling protein, tuberous sclerosis 2 (TSC2), was increased in the airway epithelium of human COPD and in mouse lungs with chronic CS exposure...
March 5, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
Anna Papadopoulou, Argyrios Dinopoulos, George Koutsodontis, Roser Pons, Pelagia Vorgia, Vasiliki Koute, Athanassios Vratimos, Dimitrios Zafeiriou
Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
Qian Shi, Suryavathi Viswanadhapalli, William E Friedrichs, Chakradhar Velagapudi, Cédric Szyndralewiez, Shweta Bansal, Manzoor A Bhat, Goutam Ghosh Choudhury, Hanna E Abboud
The mechanism by which TSC2 inactivation or deficiency contributes to the pathology of tuberous sclerosis complex (TSC) is not fully clear. We show that renal angiomyolipomas from TSC patients and kidney cortex from Tsc2+/- mice exhibit elevated levels of reactive oxygen species (ROS). Downregulation of tuberin (protein encoded by TSC2 gene) in renal proximal tubular epithelial cells significantly increased ROS concomitant with enhanced Nox4. Similarly, we found elevated levels of Nox4 in the renal cortex of Tsc2+/- mice and in the renal angiomyolipomas from TSC patients...
February 28, 2018: Scientific Reports
J Trickett, M Heald, C Oliver, C Richards
BACKGROUND: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies...
March 1, 2018: Journal of Neurodevelopmental Disorders
Sonia Nath, Jayant Prakash, Narendra Nath Singh, Virendra Kumar Prajapati
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem genetic disorder. It is characterised by formation of benign hamartomas, neurofibromas, and angiofibromas located in different organs. We describe a case of a 13-year boy who complained of gingival enlargement. Clinical examination showed distinctive dermatological signs like hypopigmented macules, shagreen plaques, miliary fibromas, fibrous plaques and multiple angiofibromas. Oral manifestation included localised gingival enlargement. Gingivectomy was performed and the excised tissue was submitted for histopathological examination...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Daphne M Hasbani, Peter B Crino
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. There are over 2000 known allelic variants for TSC, including nonsense and misssense mutation, and all pathogenic mutations are inactivating, leading to loss-of-function effects on the encoded proteins, TSC1 and TSC2. These proteins form a complex to constitutively inhibit the mammalian target of rapamycin (mTOR) signaling cascade, and as a consequence, mTOR signaling is constitutively active within all TSC-associated lesions...
2018: Handbook of Clinical Neurology
Evgeny N Suspitsin, Grigoriy A Yanus, Marina Yu Dorofeeva, Tatiana A Ledashcheva, Nataliya V Nikitina, Galina V Buyanova, Elena V Saifullina, Anna P Sokolenko, Evgeny N Imyanitov
Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with definite (n = 53) or probable (n = 8) clinical diagnosis of TS were tested for mutations in TSC1 and TSC2 genes using Sanger sequencing and MLPA analysis. Five TSC1/2 mutation-negative patients were further analyzed by exome sequencing...
February 23, 2018: Journal of Human Genetics
Yi Yu, Yuyan Xiong, Jean-Pierre Montani, Zhihong Yang, Xiu-Fen Ming
Type-II L-arginine:ureahydrolase, arginase-II (Arg-II), is shown to activate mechanistic target of rapamycin complex 1 (mTORC1) pathway and contributes to cell senescence and apoptosis. In an attempt to elucidate the underlying mechanism, we identified myosin-1b (Myo1b) as a mediator. Overexpression of Arg-II induces re-distribution of lysosome and mTOR but not of tuberous sclerosis complex (TSC) from perinuclear area to cell periphery, dissociation of TSC from lysosome and activation of mTORC1-ribosomal protein S6 kinase 1 (S6K1) pathway...
February 22, 2018: Cell Death & Disease
Nilo A Avila, A J Dwyer, J Moss
No abstract text is available yet for this article.
March 2018: AJR. American Journal of Roentgenology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"