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https://www.readbyqxmd.com/read/29245026/ketogenic-diet-induced-extension-of-longevity-in-epileptic-kcna1-null-mice-is-influenced-by-gender-and-age-at-treatment-onset
#1
Kyoung-Chul Chun, Shun-Chieh Ma, Hyoungil Oh, Jong M Rho, Do Young Kim
Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature mortality in patients with epilepsy, and has been linked to multiple risk factors, including gender and early age at seizure onset. Despite the lack of a targeted therapy for SUDEP, it has recently been shown that a high-fat, low carbohydrate ketogenic diet (KD) enhances longevity in the epileptic Kcna1-null (KO) mouse, a validated model of SUDEP. Here, we asked whether the KD-driven prolongation of lifespan in KO mice is dependent on sex and/or age at treatment onset...
November 21, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29244830/transcriptome-profiling-identifies-regulators-of-pathogenesis-in-collagen-vi-related-muscular-dystrophy
#2
Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss
OBJECTIVES: The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contractures. Inheritance can be dominant negative (DN) or recessive depending on the type and location of the mutation. DN mutations allow incorporation of abnormal chains into secreted tetramers and are the most commonly identified mutation type in COL6-RD...
2017: PloS One
https://www.readbyqxmd.com/read/29244787/loss-of-podocalyxin-causes-a-novel-syndromic-type-of-congenital-nephrotic-syndrome
#3
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, Michael Hughes, Bo Sang Kwon, Sangmoon Lee, Kelly M McNagny, Yo Han Ahn, Jung Min Ko, Il-Soo Ha, Murim Choi, Hae Il Cheong
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent...
December 15, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29244146/ezh2-mutations-found-in-the-weaver-overgrowth-syndrome-cause-a-partial-loss-of-h3k27-histone-methyltransferase-activity
#4
Julian C Lui, Kevin M Barnes, Lijin Dong, Shanna Yue, Evan Graber, Robert Rapaport, Andrew Dauber, Ola Nilsson, Jeffrey Baron
Context: Weaver syndrome is characterized by tall stature, advanced bone age, characteristic facies, and variable intellectual disability. It is caused by heterozygous mutations in EZH2, a histone methyltransferase responsible for H3K27 trimethylation. However, no early truncating mutations have been identified, suggesting that null mutations do not cause Weaver syndrome. Objective: To test alternative hypotheses that EZH2 variants found in Weaver syndrome either cause a gain of function or a partial loss of function...
December 13, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29243583/the-gstm1-and-gstt1-null-genotypes-increase-the-risk-for-type-2-diabetes-mellitus-and-the-subsequent-development-of-diabetic-complications-a-meta-analysis
#5
Sayantan Nath, Sambuddha Das, Aditi Bhowmik, Sankar Kumar Ghosh, Yashmin Choudhury
BACKGROUND: Studies pertaining to association of GSTM1 and GSTT1 null genotypes with risk of T2DM and its complications were often inconclusive, thus spurring the present study. METHODS: Meta-analysis of 25 studies for evaluating the role of GSTM1/GSTT1 null polymorphisms in determining the risk for T2DM and 17 studies for evaluating the role of GSTM1/GSTT1 null polymorphisms in development of T2DM related complications were conducted. RESULTS: Our study revealed an association between GSTM1 and GSTT1 null polymorphism with T2DM (GSTM1; OR=1...
December 15, 2017: Current Diabetes Reviews
https://www.readbyqxmd.com/read/29243279/the-mito-mkate2-mouse-a-far-red-fluorescent-reporter-mouse-line-for-tracking-mitochondrial-dynamics-in-vivo
#6
Anthony P Barrasso, Xuefei Tong, Ross A Poché
Mitochondria are incredibly dynamic organelles that undergo continuous fission and fusion events to control morphology, which profoundly impacts cell physiology including cell cycle progression (Mitra, 2013; Mitra et al., 2009). This is highlighted by the fact that most major human neurodegenerative diseases are due to specific disruptions in mitochondrial fission or fusion machinery and null alleles of these genes result in embryonic lethality (Chan, 2006; Chen et al., 2017; Flippo and Strack, 2017). To gain a better understanding of the pathophysiology of such disorders, tools for the in vivo assessment of mitochondrial dynamics are required...
December 15, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/29243063/molecular-characterization-of-the-spike-gene-of-the-porcine-epidemic-diarrhea-virus-in-mexico-2013-2016
#7
Rocío Lara-Romero, Luis Gómez-Núñez, José Luis Cerriteño-Sánchez, Laura Márquez-Valdelamar, Susana Mendoza-Elvira, Humberto Ramírez-Mendoza, José Francisco Rivera-Benítez
In Mexico, the first outbreaks suggestive of the circulation of the porcine epidemic diarrhea virus (PEDV) were identified at the beginning of July 2013. To identify the molecular characteristics of the PEDV Spike (S) gene in Mexico, 116 samples of the intestine and diarrhea of piglets with clinical signs of porcine epidemic diarrhea (PED) were obtained. Samples were collected from 14 farms located in six states of Mexico (Jalisco, Puebla, Sonora, Veracruz, Guanajuato, and Michoacán) from 2013 to 2016. To identify PEDV, we used real-time RT-PCR to discriminate between non-INDEL and INDEL strains...
December 14, 2017: Virus Genes
https://www.readbyqxmd.com/read/29242833/put3-positively-regulates-proline-utilization-in-candida-albicans
#8
Walters Aji Tebung, Raha Parvizi Omran, Debra L Fulton, Joachim Morschhäuser, Malcolm Whiteway
The zinc cluster transcription factor Put3 was initially characterized in Saccharomyces cerevisiae as the transcriptional activator of PUT1 and PUT2, two genes acting early in the proline assimilation pathway. We have used phenotypic studies, transcription profiling, and chromatin immunoprecipitation with microarray technology (ChIP-chip) to establish that unlike S. cerevisiae, which only uses proline as a nitrogen source, Candida albicans can use proline as a nitrogen source, a carbon source, or a source of both nitrogen and carbon...
November 2017: MSphere
https://www.readbyqxmd.com/read/29242314/reduced-expression-of-apum24-encoding-a-novel-rrna-processing-factor-induces-sugar-dependent-nucleolar-stress-and-altered-sugar-responses-in-arabidopsis-thaliana
#9
Shugo Maekawa, Tetsuya Ishida, Shuichi Yanagisawa
Ribosome biogenesis is one of the most energy-consuming events in the cell and must therefore be coordinated with changes in cellular energy status. Here, we show that the sugar-inducible gene ARABIDOPSIS PUMILIO PROTEIN 24 (APUM24) encodes a Pumilio homology domain-containing protein involved in pre-ribosomal RNA (pre-rRNA) processing in Arabidopsis thaliana. Null mutation of APUM24 resulted in aborted embryos due to abnormal gametogenesis and embryogenesis, whereas reduced expression of APUM24 caused several phenotypes characteristic of ribosome biogenesis or function-related mutants...
December 14, 2017: Plant Cell
https://www.readbyqxmd.com/read/29242273/rbpj-mediates-uterine-repair-in-the-mouse-and-is-reduced-in-women-with-recurrent-pregnancy-loss
#10
Michael R Strug, Ren-Wei Su, Tae Hoon Kim, Alessandro Mauriello, Carlo Ticconi, Bruce A Lessey, Steven L Young, Jeong Mook Lim, Jae-Wook Jeong, Asgerally T Fazleabas
Unexplained recurrent pregnancy loss (uRPL) is associated with repeated embryo loss and endometrial repair with elevated endometrial expression of inflammatory cytokines, including IFN-γ. Notch signaling through its transcription factor recombination signal binding protein Jκ (RBPJ) regulates mechanisms including the immune response and repair after tissue injury. Initially, null mutation of RBPJ in the mouse uterus (Pgrcre/+Rbpjf/f ; Rbpj c-KO) results in subfertility, but we have found that these mice become infertile after pregnancy as a result of dysfunctional postpartum uterine repair, including delayed endometrial epithelial and myometrial regeneration...
December 14, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29241457/impaired-regeneration-in-calpain-3-null-muscle-is-associated-with-perturbations-in-mtorc1-signaling-and-defective-mitochondrial-biogenesis
#11
Mehmet E Yalvac, Jakkrit Amornvit, Cilwyn Braganza, Lei Chen, Syed-Rehan A Hussain, Kimberly M Shontz, Chrystal L Montgomery, Kevin M Flanigan, Sarah Lewis, Zarife Sahenk
BACKGROUND: Previous studies in patients with limb-girdle muscular dystrophy type 2A (LGMD2A) have suggested that calpain-3 (CAPN3) mutations result in aberrant regeneration in muscle. METHODS: To gain insight into pathogenesis of aberrant muscle regeneration in LGMD2A, we used a paradigm of cardiotoxin (CTX)-induced cycles of muscle necrosis and regeneration in the CAPN3-KO mice to simulate the early features of the dystrophic process in LGMD2A. The temporal evolution of the regeneration process was followed by assessing the oxidative state, size, and the number of metabolic fiber types at 4 and 12 weeks after last CTX injection...
December 14, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29240780/filamina-and-formin2-regulate-skeletal-muscular-and-intestinal-formation-through-mesenchymal-progenitor-proliferation
#12
Gewei Lian, Sneha Kanaujia, Timothy Wong, Volney Sheen
The effects of actin dependent molecular mechanisms in coordinating cellular proliferation, migration and differentiation during embryogenesis are not well-understood. We have previously shown that actin-binding Filamin A (FlnA) and actin-nucleating Formin 2 (Fmn2) influence the development of the brain causing microcephaly in mice. In this study, we broaden this phenotype to explore the effects of these two proteins in the development of extra-CNS organ systems, including the gut, muscle, and skeleton. We observed defects in rib and sternum midline closure leading to thoracoabdominal schisis in FlnA+Fmn2 knockout mice, reminiscent of the pentalogy of Cantrell syndrome...
2017: PloS One
https://www.readbyqxmd.com/read/29240542/phase-ii-study-of-everolimus-in-patients-with-thymoma-and-thymic-carcinoma-previously-treated-with-cisplatin-based-chemotherapy
#13
Paolo Andrea Zucali, Tommaso De Pas, Giovannella Palmieri, Adolfo Favaretto, Antonio Chella, Marcello Tiseo, Michele Caruso, Matteo Simonelli, Matteo Perrino, Fabio De Vincenzo, Francesca Toffalorio, Vincenzo Damiano, Giulia Pasello, Erika Garbella, Marco Ali, Fabio Conforti, Margaret Ottaviano, Angela Cioffi, Sabino De Placido, Laura Giordano, Monica Bertossi, Annarita Destro, Luca Di Tommaso, Armando Santoro
Purpose No effective salvage treatments are available for patients with advanced/recurrent thymoma (T) or thymic carcinoma (TC) who have progressed after platinum-based chemotherapy. This study evaluated the activity of everolimus in patients with advanced/recurrent T or TC previously treated with cisplatin-containing chemotherapy. Patients and Methods This was a single-arm, single-stage, open-label, multicenter, phase II trial. Patients received oral everolimus 10 mg/d until disease progression, unacceptable toxicity, or patient refusal...
December 14, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29240212/accuracy-of-implants-placed-with-surgical-guides-thermoplastic-versus-3d-printed
#14
Caitlyn K Bell, Erik F Sahl, Yoon Jeong Kim, Dwight D Rice
This study was conducted to evaluate the accuracy of implants placed using two different guided implant surgery materials: thermoplastic versus three-dimensionally (3D) printed. A cone beam computed tomography (CBCT) scan previously obtained and selected for single-tooth implant replacement was converted into a Digital Imaging and Communications in Medicine (DICOM) file. All models were planned and exported for printing using BlueSkyBio Plan Software with the DICOM files. A total of 20 3D-printed mandibular quadrant jaws replicating the CBCT were printed by Right Choice Milling, as was the control model to accept the control implant...
January 2018: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/29239631/video-game-training-does-not-enhance-cognitive-ability-a-comprehensive-meta-analytic-investigation
#15
Giovanni Sala, K Semir Tatlidil, Fernand Gobet
As a result of considerable potential scientific and societal implications, the possibility of enhancing cognitive ability by training has been one of the most influential topics of cognitive psychology in the last two decades. However, substantial research into the psychology of expertise and a recent series of meta-analytic reviews have suggested that various types of cognitive training (e.g., working memory training) benefit performance only in the trained tasks. The lack of skill generalization from one domain to different ones-that is, far transfer-has been documented in various fields of research such as working memory training, music, brain training, and chess...
December 14, 2017: Psychological Bulletin
https://www.readbyqxmd.com/read/29238870/chest-radiograph-measurement-technique-facilitates-accurate-bedside-peripherally-inserted-central-catheter-placement-in-children
#16
Aishu Ramamurthi, Jeffrey Forris Beecham Chick, Rajiv N Srinivasa, Anthony N Hage, Jason J Grove, Joseph J Gemmete, Timothy D Johnson, Ravi N Srinivasa
PURPOSE: To report the chest radiograph measurement technique for placing bedside peripherally inserted central catheters (PICCs). MATERIALS AND METHODS: Two hundred and thirty-two consecutive pediatric patients, mean age of 56.3 months (range: 0-203 months), underwent PICC placement from January 2015 to May 2017 (28 months) with a total of 232 PICCs placed. Measurements were taken from the cavoatrial junction to clavicle, clavicle to medial margin of mid-humeral head, and medial margin of mid-humeral head to mid-humerus...
December 13, 2017: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/29238864/species-traits-do-not-converge-on-optimum-values-in-preferred-habitats
#17
Rachel M Mitchell, Justin P Wright, Greg M Ames
Plant trait expression is shaped by filters, which can alter trait means and variances, theoretically driving species toward an "optimum" trait value for a set of environmental conditions. Recent research has highlighted the ubiquity of intraspecific variation in functional traits, which can cause plants to diverge from a hypothesized "optimum". We examined whether species occurring in "core" habitats (where they occur frequently, abundantly, and consistently) express traits that are nearer to "optimum", as captured by the community-weighted mean (CWM)...
December 13, 2017: Oecologia
https://www.readbyqxmd.com/read/29238545/historical-biogeography-of-endemic-seed-plant-genera-in-the-caribbean-did-gaarlandia-play-a-role
#18
María Esther Nieto-Blázquez, Alexandre Antonelli, Julissa Roncal
The Caribbean archipelago is a region with an extremely complex geological history and an outstanding plant diversity with high levels of endemism. The aim of this study was to better understand the historical assembly and evolution of endemic seed plant genera in the Caribbean, by first determining divergence times of endemic genera to test whether the hypothesized Greater Antilles and Aves Ridge (GAARlandia) land bridge played a role in the archipelago colonization and second by testing South America as the main colonization source as expected by the position of landmasses and recent evidence of an asymmetrical biotic interchange...
December 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29237685/identity-by-descent-mapping-identifies-major-locus-for-serum-triglycerides-in-amerindians-largely-explained-by-an-apoc3-founder-mutation
#19
Wen-Chi Hsueh, Anup K Nair, Sayuko Kobes, Peng Chen, Harald H H Göring, Toni I Pollin, Alka Malhotra, William C Knowler, Leslie J Baier, Robert L Hanson
BACKGROUND: Identity-by-descent mapping using empirical estimates of identity-by-descent allele sharing may be useful for studies of complex traits in founder populations, where hidden relationships may augment the inherent genetic information that can be used for localization. METHODS AND RESULTS: Through identity-by-descent mapping, using ≈400 000 single-nucleotide polymorphisms (SNPs), of serum lipid profiles, we identified a major linkage signal for triglycerides in 1007 Pima Indians (LOD=9...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237285/inhibition-of-diverse-dsba-enzymes-in-multi-dsba-encoding-pathogens
#20
Makrina Totsika, Dimitrios Vagenas, Jason J Paxman, Geqing Wang, Rabeb Dhouib, Pooja Sharma, Jennifer L Martin, Martin J Scanlon, Begoña Heras
AIMS: DsbA catalyses disulfide bond formation in secreted and outer membrane proteins in bacteria. In pathogens, DsbA is a major facilitator of virulence constituting a target for antivirulence antimicrobial development. However, many pathogens encode multiple and diverse DsbA enzymes for virulence factor folding during infection. The aim of this study was to determine whether our recently identified inhibitors of <i>Escherichia coli </i>K-12 DsbA can inhibit the diverse DsbA enzymes found in two important human pathogens and attenuate their virulence...
December 14, 2017: Antioxidants & Redox Signaling
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