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https://www.readbyqxmd.com/read/28428886/vaccination-with-inhibin-%C3%AE-provides-effective-immunotherapy-against-testicular-stromal-cell-tumors
#1
Robert Aguilar, Justin M Johnson, Patrick Barrett, Vincent K Tuohy
BACKGROUND: Testicular cancer is the most common male neoplasm occurring in men between the ages of 20 and 34. Although germ-line testicular tumors respond favorably to current standard of care, testicular stromal cell (TSC) tumors derived from Sertoli cells or Leydig cells often fail to respond to chemotherapy or radiation therapy and have a 5-year overall survival significantly lower than the more common and more treatable germ line testicular tumors. METHODS: To improve outcomes for TSC cancer, we have developed a therapeutic vaccine targeting inhibin-α, a protein produced by normal Sertoli and Leydig cells of the testes and expressed in the majority of TSC tumors...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#2
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/28425063/blastocyst-derived-stem-cell-populations-under-stress-impact-of-nutrition-and-metabolism-on-stem-cell-potency-loss-and-miscarriage
#3
REVIEW
Yu Yang, Alan Bolnick, Alexandra Shamir, Mohammed Abdulhasan, Quanwen Li, G C Parker, Elizabeth E Puscheck, D A Rappolee
Data from in vitro and in vivo models suggest that malnutrition and stress trigger adaptive responses, leading to small for gestational age (SGA) blastocysts with fewer cell numbers. These stress responses are initially adaptive, but become maladaptive with increasing stress exposures. The common stress responses of the blastocyst-derived stem cells, pluripotent embryonic and multipotent placental trophoblast stem cells (ESCs and TSCs), are decreased growth and potency, and increased, imbalanced and irreversible differentiation...
April 19, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28414661/delayed-presentation-of-tuberour-sclerosis-complex-in-adult-women
#4
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
#5
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/28413447/enhancement-of-ethanol-production-from-green-liquor-ethanol-pretreated-sugarcane-bagasse-by-glucose-xylose-cofermentation-at-high-solid-loadings-with-mixed-saccharomyces-cerevisiae-strains
#6
Yanzhi You, Pengfei Li, Fuhou Lei, Yang Xing, Jianxin Jiang
BACKGROUND: Efficient cofermentation of glucose and xylose is necessary for economically feasible bioethanol production from lignocellulosic biomass. Here, we demonstrate pretreatment of sugarcane bagasse (SCB) with green liquor (GL) combined with ethanol (GL-Ethanol) by adding different GL amounts. The common Saccharomyces cerevisiae (CSC) and thermophilic S. cerevisiae (TSC) strains were used and different yeast cell mass ratios (CSC to TSC) were compared. The simultaneous saccharification and cofermentation (SSF/SSCF) process was performed by 5-20% (w/v) dry substrate (DS) solid loadings to determine optimal conditions for the co-consumption of glucose and xylose...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/28411579/self-injury-and-aggression-in-adults-with-tuberous-sclerosis-complex-frequency-associated-person-characteristics-and-implications-for-assessment
#7
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/28409752/early-appearance-of-tuberous-sclerosis-complex-on-cerebral-ultrasound-in-extremely-preterm-infant
#8
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/28397210/-analysis-of-tsc-gene-mutations-in-five-patients-with-tuberous-sclerosis-complex
#9
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
#10
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/28391198/the-discriminative-power-of-shape-an-empirical-study-in-time-series-matching
#11
Kaustubha Mendhurwar, Qing Gu, Sudhir Mudur, Tiberiu Popa
Shape provides significant discriminating power in time series matching of visual or geometric data as required in many important applications in graphics and vision. The well established dynamic time warping (DTW) algorithm and its variants do this matching by determining a non-linear time mapping to minimise Euclidean distances between corresponding time-warped points. However the shape of curves is not considered. In this paper, we present a new shape-aware algorithm which uses time and shape correspondence (TSC) at increasing levels of detail to define a similarity measure with an L0 norm to aggregate the results, making it robust to noise and missing data...
April 5, 2017: IEEE Transactions on Visualization and Computer Graphics
https://www.readbyqxmd.com/read/28390072/biocompatibility-and-mineralized-nodule-formation-of-neo-mta-plus-and-an-experimental-tricalcium-silicate-cement-containing-tantalum-oxide
#12
M Tanomaru-Filho, A S Andrade, E M Rodrigues, K S Viola, G Faria, J Camilleri, J M Guerreiro-Tanomaru
AIM: To evaluate the biocompatibility and mineralized nodule formation of an experimental tricalcium silicate cement with tantalum oxide (TSC/Ta2 O5 ) as radiopacifier, Neo MTA Plus (Avalon Biomed Inc. Bradenton, FL, USA) and MTA (Angelus, Londrina, PR, Brazil) on human osteoblast-like cells (Saos-2). METHODOLOGY: Biocompatibility was evaluated by 3-(4,5-dimethyl-thiazoyl)-2,5-diphenyl-tetrazolium bromide (MTT) and Neutral Red (NR) assays, after exposure of Saos-2 to cement extracts at 1:1, 1:2, 1:4 and 1:8 dilutions for 24 h...
April 8, 2017: International Endodontic Journal
https://www.readbyqxmd.com/read/28386925/vagus-nerve-stimulation-surgical-technique-of-implantation-and-revision-and-related-morbidity
#13
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
#14
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
https://www.readbyqxmd.com/read/28367235/combined-targeting-of-mtor-and-akt-using-rapamycin-and-mk-2206-in-the-treatment-of-tuberous-sclerosis-complex
#15
Shuang Ji, Wei Lin, Li Wang, Zhaofei Ni, Fuquan Jin, Xiaojun Zha, Guanghe Fei
Tuberous sclerosis complex (TSC), caused by loss-of-function mutations in the TSC1 or TSC2 genes, is an autosomal dominant disease characterized by benign tumor formation in multiple organs. Hyperactivation of mammalian target of rapamycin (mTOR) is the primary alteration underlying TSC tumor. Thus, rapamycin, as an mTOR specific inhibitor, has been assumed as a potential drug for the treatment of TSC. However, its application in TSC patients has been limited due to side effects. By analyzing Tsc1- or Tsc2-null mouse embryonic fibroblasts (MEFs), we found that loss of TSC1 or TSC2 led to a decreased sensitivity to MK-2206, a novel allosteric Akt inhibitor...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28367137/epilepsy-mechanisms-in-neurocutaneous-disorders-tuberous-sclerosis-complex-neurofibromatosis-type-1-and-sturge-weber-syndrome
#16
REVIEW
Carl E Stafstrom, Verena Staedtke, Anne M Comi
Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28358266/natural-history-of-patients-with-tuberous-sclerosis-complex-related-renal-angiomyolipoma
#17
Xue Song, Zhimei Liu, Katherine Cappell, Christopher Gregory, Qayyim Said, Judith Prestifilippo, Hearns Charles, John Hulbert, John Bissler
OBJECTIVE: To examine temporal relationships between tuberous sclerosis complex (TSC) and renal angiomyolipoma diagnosis and outcomes, treatment, and healthcare utilization. METHODS: Administrative data from the MarketScan® Commercial Database were used to select TSC-renal angiomyolipoma patients during 1/1/2000-3/31/2013. Patients were followed until the earliest of inpatient death or end of enrollment or study. Occurrence of kidney-related outcomes, kidney-related procedures, and all-cause healthcare utilization and time to occurrence were reported...
March 30, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28351834/cutaneous-manifestations-of-tuberous-sclerosis-complex-and-the-paediatrician-s-role
#18
REVIEW
Michael A Cardis, Cynthia Marie Carver DeKlotz
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediatricians can be a catalyst for facilitating early implementation of treatment strategies and establishing appropriate follow-up care...
March 28, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28344003/abnormal-neural-progenitor-cells-differentiated-from-induced-pluripotent-stem-cells-partially-mimicked-development-of-tsc2-neurological-abnormalities
#19
Yaqin Li, Jiqing Cao, Menglong Chen, Jing Li, Yiming Sun, Yu Zhang, Yuling Zhu, Liang Wang, Cheng Zhang
Tuberous sclerosis complex (TSC) is a disease featuring devastating and therapeutically challenging neurological abnormalities. However, there is a lack of specific neural progenitor cell models for TSC. Here, the pathology of TSC was studied using primitive neural stem cells (pNSCs) from a patient presenting a c.1444-2A>C mutation in TSC2. We found that TSC2 pNSCs had higher proliferative activity and increased PAX6 expression compared with those of control pNSCs. Neurons differentiated from TSC2 pNSCs showed enlargement of the soma, perturbed neurite outgrowth, and abnormal connections among cells...
April 11, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28341619/assessing-feasibility-and-acceptability-of-web-based-enhanced-relapse-prevention-for-bipolar-disorder-erponline-a-randomized-controlled-trial
#20
Fiona Lobban, Alyson L Dodd, Adam P Sawczuk, Ozgur Asar, Dave Dagnan, Peter J Diggle, Martin Griffiths, Mahsa Honary, Dawn Knowles, Rita Long, Richard Morriss, Rob Parker, Steven Jones
BACKGROUND: Interventions that teach people with bipolar disorder (BD) to recognize and respond to early warning signs (EWS) of relapse are recommended but implementation in clinical practice is poor. OBJECTIVES: The objective of this study was to test the feasibility and acceptability of a randomized controlled trial (RCT) to evaluate a Web-based enhanced relapse prevention intervention (ERPonline) and to report preliminary evidence of effectiveness. METHODS: A single-blind, parallel, primarily online RCT (n=96) over 48 weeks comparing ERPonline plus usual treatment with "waitlist (WL) control" plus usual treatment for people with BD recruited through National Health Services (NHSs), voluntary organizations, and media...
March 24, 2017: Journal of Medical Internet Research
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