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https://www.readbyqxmd.com/read/29454299/congenital-forms-of-diabetes-the-beta-cell-and-beyond
#1
REVIEW
Lisa R Letourneau, Siri Atma W Greeley
The majority of patients diagnosed with diabetes less than 6 months of age, and many cases diagnosed between 6 and 12 months of age, have a gene mutation that causes permanent or transient hyperglycemia. Recent research advances have allowed for the discovery of new causes of congenital diabetes, including genes involved in pancreatic development (GATA4, NKX2-2, MNX1) and monogenic causes of autoimmune dysregulation (STAT3, LRBA). Ongoing follow-up of patients with KCNJ11 and ABCC8 mutations has supported the safety and efficacy of sulfonylureas, as well as the use of insulin pumps and continuous glucose monitors in infants with insulin-requiring forms of monogenic diabetes...
February 14, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29454196/sexually-transmitted-infections-and-immune-activation-among-hiv-infected-but-virally-suppressed-youth-on-antiretroviral-therapy
#2
Tanya L Kowalczyk Mullins, Su X Li, James Bethel, Maureen M Goodenow, Stephanie Hudey, John W Sleasman
BACKGROUND: Human immunodeficiency virus (HIV) infection is associated with chronic immune activation, and concurrent sexually transmitted infections (STIs) may increase immune activation. OBJECTIVES: Because HIV-infected youth are at high risk of STIs and little is known about the impact of STIs on immune activation in HIV-infected youth, we conducted an exploratory study examining the association between STIs and systemic inflammation and immune activation among HIV-infected adolescents...
February 7, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29454160/vascular-parameters-continue-to-decrease-post-exposure-with-simultaneous-but-not-individual-exposure-to-bpa-and-hypoxia-in-zebrafish-larvae
#3
Alysha D Cypher, Bryce Fetterman, Brian Bagatto
How fish respond to hypoxia, a common stressor, can be altered by simultaneous exposure to pollutants like bisphenol A (BPA), a plasticizer. BPA is cardiotoxic and interferes with the hypoxia inducible factor pathway (HIF-1α), therefore disrupting the hypoxic response. Co-exposure to hypoxia and BPA also causes severe bradycardia and reduced cardiac output in zebrafish larvae. The purpose of this work was to determine how the cardiovascular effects of co-exposure vary with BPA concentration and persist beyond exposure...
February 14, 2018: Comparative Biochemistry and Physiology. Toxicology & Pharmacology: CBP
https://www.readbyqxmd.com/read/29454088/hsf4-transcriptional-regulates-hmox-1-expression-in-hlecs
#4
Shengjie Liao, Zhen Qu, Linqiang Li, Benwen Zhou, Meng Gao, Mi Huang, Duanzhuo Li
The major causes for cataract formation are free radicals, which are neutralized by the endogenous antioxidants. However, how the human lens clean these harmful free radicals is still unclear. Transcriptional factor heat shock factor 4 (HSF4) is a cataract-causing gene and plays important roles during lens development. Here we show that HMOX-1, an anti-oxidase, is a bona fide transcriptional target gene of HSF4 in HLECs (human lens epithelial cells). HSF4 directly binds to the HSE element in HMOX-1 promoter to mediate its mRNA transcription and protein accumulation...
February 14, 2018: Gene
https://www.readbyqxmd.com/read/29454040/development-of-an-unrelated-donor-selection-score-predictive-of-survival-after-hct-donor-age-matters-most
#5
Bronwen E Shaw, Brent R Logan, Stephen R Spellman, Steven G E Marsh, James Robinson, Joseph Pidala, Carolyn Hurley, Juliet Barker, Martin Maiers, Jason Dehn, Hailin Wang, Mike Haagenson, David Porter, Effie W Petersdorf, Ann Woolfrey, Mary M Horowitz, Michael Verneris, Katharine C Hsu, Katharina Fleischhauer, Stephanie J Lee
Donor factors, in addition to HLA matching status, have been associated with recipient survival in unrelated donor (URD) hematopoietic cell transplantation (HCT), however there is no hierarchical algorithm that weights the characteristics of individual donors against each other in a quantitative manner to facilitate donor selection. The goal of this study was to develop and validate a donor selection score that prioritizes donor characteristics associated with better survival in 8/8 HLA-matched URDs. Two separate patient/donor cohorts, the first receiving HCT between 1999-2011 (n=5952, c1), and the second between 2012-2014 (n=4510, c2) were included in the analysis...
February 14, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29454004/identification-and-analysis-of-peanut-specific-t-effector-and-t-regulatory-cells-in-children-allergic-and-tolerant-to-peanut
#6
Katherine A Weissler, Marjohn Rasooly, Tom DiMaggio, Hyejeong Bolan, Daly Cantave, David Martino, Melanie R Neeland, Mimi Lk Tang, Thanh D Dang, Katrina J Allen, Pamela A Frischmeyer-Guerrerio
BACKGROUND: Peanut allergy is potentially life-threatening and generally persists lifelong. Recent data suggests the skin may be an important route of initial sensitization to peanut, while early oral exposure to peanut is protective. In mice, T regulatory cells (Tregs) are central to development of tolerance to food, but their contribution to the pathogenesis of food allergy in humans is less clear. OBJECTIVE: We sought to quantify and phenotype peanut-specific CD4+ T effector (ps-Teff) and ps-Tregs in children with and without peanut allergy or sensitization...
February 14, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29453962/an-autoantibody-against-human-dna-topoiomerase-i-is-a-novel-biomarker-for-non-small-cell-lung-cancer
#7
Wen-Bin Wu, Shang-Mian Yie, Shang-Rong Ye, Ke Xie, Jian-Bo Zhang, Mei Cao, Jie Chen, Xu He, Xiao-Li Ma, Jia Zhang
BACKGROUND: We previously reported a novel tumor associated antigen with a molecular weight around 48 kDa that was a fragment derived from human DNA-topoiomerase I. The aim of this study is to further investigate the clinical significance of the autoantibody in patients with non-small cell lung cancer (NSCLC). METHODS: We determined serum levels of the autoantibody in 127 NSCLC patients, 127 age-, gender- and smoking history-matched healthy controls, and 38 patients with pulmonary benign tumors by using a specific enzyme linked immunosorbent assay (ELISA) for the autoantibody...
February 14, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29453899/the-role-of-dna-pk-in-aging-and-energy-metabolism
#8
REVIEW
Jay H Chung
DNA-dependent protein kinase (DNA-PK) is a very large holoenzyme comprised of the p470 kDa DNA-PK catalytic subunit (DNA-PK cs ) and the Ku heterodimer consisting of the p86 (Ku 80) and p70 (Ku 70) subunits. It is best known for its non-homologous end joining (NHEJ) activity, which repairs double-strand DNA (dsDNA) breaks (DSBs). As expected, the absence of DNA-PK activity results in sensitivity to ionizing radiation, which generates DSBs and defect in lymphocyte development, which requires NHEJ of the V(D)J region in the immunoglobulin and T cell receptor loci...
February 17, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29453885/bacterial-neuraminidase-mediated-erythrocyte-desialylation-provokes-cell-surface-aminophospholipid-exposure
#9
Syed M Qadri, David A Donkor, Ishac Nazy, Donald R Branch, William P Sheffield
BACKGROUND: Surface desialylation is associated with erythrocyte aging and mediates phagocytic recognition and clearance of senescent erythrocytes. Neuraminidases, a family of glycohydrolytic enzymes, cleave the glycosidic linkages between sialic acid and mucopolysaccharides and have previously been implicated in erythrocyte dysfunction associated with sepsis. Erythrocytes in septic patients further display a phenotype of accelerated eryptosis characterized by membrane phospholipid scrambling resulting in phosphatidylserine (PS) externalization...
February 17, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29453876/prognostic-importance-of-fgf2-and-fgfr1-expression-for-patients-affected-by-ameloblastoma
#10
Felipe Paiva Fonseca, Bernar Monteiro Benites, Ciro Dantas Soares, Thayná Melo de Lima Morais, Gleyson Kleber do Amaral-Silva, Oslei Paes de Almeida, Fernando Augusto Soares, Eduardo Rodrigues Fregnani
BACKGROUND: Fibroblast growth factor 2 (FGF2) and FGF receptor 1 (FGFR1) have been investigated in different human neoplasms and were shown to play important roles in the pathogenesis of these diseases; however, very few is known regarding their prognostic importance in the context of ameloblastoma. Therefore, the aim of this study is to investigate if the expression of FGF2 and FGFR1 is associated with ameloblastoma clinical behavior. METHODS: Fifty-eight cases of ameloblastoma arranged in tissue microarray were submitted to immunohistochemistry against FGF2 and FGFR1...
February 17, 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29453811/multimodal-treatment-including-tandem-high-dose-chemotherapy-and-autologous-stem-cell-transplantation-in-children-with-anaplastic-ependymomas
#11
Ji Won Lee, Do Hoon Lim, Ki Woong Sung, Hyeong Jin Lee, Eun Sang Yi, Keon Hee Yoo, Hong Hoe Koo, Yeon-Lim Suh, Hyung Jin Shin
In this study, we evaluated the results of multimodal treatment that included tandem HDCT/auto-SCT in children with anaplastic ependymomas. Fourteen patients with anaplastic ependymomas were enrolled from 2006 to 2014. Six cycles of induction chemotherapy were administered to all patients before they underwent tandem HDCT/auto-SCT. Patients who were older than 3 years of age were administered RT after two cycles of induction chemotherapy. In patients under 3 years of age, RT was either omitted or delayed until they reached 3 years of age, if the patients experienced CR after tandem HDCT/auto-SCT...
February 16, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29453775/effect-of-pparg-on-ages-induced-akt-mtor-signaling-associated-human-chondrocytes-autophagy
#12
Zhao-Jun Wang, Hai-Bin Zhang, Cheng Chen, Hao Huang, Jian-Xia Liang
Accumulation of advanced glycation end products (AGEs) in articular cartilage is thought to represent a major risk factor for osteoarthritis development. In this study we aimed to probe the role of AGEs in human chondrocytes and to determine the impact of the peroxisome proliferator-activated receptor-γ (PPARG) on AGEs-induced cell autophagy. Cell viability was measured after human chondrocytes were treated with different concentrations of AGEs with or without the PPARG inhibitor, T0070907, or agonist, pioglitazone...
February 17, 2018: Cell Biology International
https://www.readbyqxmd.com/read/29453681/-18-f-fpybf-2-a-new-f-18-labelled-amyloid-imaging-pet-tracer-biodistribution-and-radiation-dosimetry-assessment-of-first-in-man-18-f-fpybf-2-pet-imaging
#13
Ryuichi Nishii, Tatsuya Higashi, Shinya Kagawa, Chio Okuyama, Yoshihiko Kishibe, Masaaki Takahashi, Tomoko Okina, Norio Suzuki, Hiroshi Hasegawa, Yasuhiro Nagahama, Koichi Ishizu, Naoya Oishi, Hiroyuki Kimura, Hiroyuki Watanabe, Masahiro Ono, Hideo Saji, Hiroshi Yamauchi
OBJECTIVE: Recently, a benzofuran derivative for the imaging of β-amyloid plaques, 5-(5-(2-(2-(2- 18 F-fluoroethoxy)ethoxy)ethoxy)benzofuran-2-yl)- N-methylpyridin-2-amine ( 18 F-FPYBF-2) has been validated as a tracer for amyloid imaging and it was found that 18 F-FPYBF-2 PET/CT is a useful and reliable diagnostic tool for the evaluation of AD (Higashi et al. Ann Nucl Med, https://doi.org/10.1007/s12149-018-1236-1 , 2018). The aim of this study was to assess the biodistribution and radiation dosimetry of diagnostic dosages of 18 F-FPYBF-2 in normal healthy volunteers as a first-in-man study...
February 16, 2018: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/29453563/rabbit-sertoli-cells-immunohistochemical-profile-from-neonatal-to-adult-age
#14
Valeria Grieco, Barbara Banco
Immunohistochemistry (IHC) on formalin-fixed paraffin-embedded tissue specimens is a widely used laboratory technique that allows the demonstration and the direct microscopical observation of antigens within tissue sections by means of specific antibodies. IHC is one the best tools to define the immunophenotype of a cell during maturation or neoplastic transformation.To investigate the immunophenotype of postnatal rabbit Sertoli cell, from neonatal to adult age, in this chapter, the immunohistochemical protocol described is one of the most common: the avidin-biotin complex (ABC) method...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29453475/basal-cell-carcinoma-in-cases-with-or-without-xeroderma-pigmentosum
#15
Dilasma Ghartimagar, Arnab Ghosh, Sushil Ram Shrestha, Sachet Shrestha, Sushma Thapa, Raghavan Narasimhan, O P Talwar
INTRODUCTION: Basal cell carcinoma is the most common form of cancer in humans and comprises the vast majority of skin cancers. It predominantly affects fair-skinned individuals, and its incidence is rapidly increasing. The objective of the study is to identify the epidemiology, its topography and different histological subtypes of basal cell carcinoma in patients with or without Xeroderma Pigmentosum. METHODS: A cross-sectional descriptive study was conducted at Manipal Teaching Hospital, Pokhara from Jan 2009 to Dec 2016...
October 2017: JNMA; Journal of the Nepal Medical Association
https://www.readbyqxmd.com/read/29453441/circulating-cell-free-mitochondrial-dna-but-not-leukocyte-mitochondrial-dna-copy-number-is-elevated-in-major-depressive-disorder
#16
Daniel Lindqvist, Owen M Wolkowitz, Martin Picard, Lars Ohlsson, Francesco S Bersani, Johan Fernström, Åsa Westrin, Christina M Hough, Jue Lin, Victor I Reus, Elissa S Epel, Synthia H Mellon
Major depressive disorder (MDD) has been linked to mitochondrial defects, which could manifest in mitochondrial DNA (mtDNA) polymorphisms or mutations. Additionally, copy number of mtDNA (mtDNA-cn) can be quantified in peripheral blood mononuclear cells (PBMC)s, indirectly reflecting cellular energetics, or in the circulating cell-free mtDNA (ccf-mtDNA) levels, which may reflect a fraction of the mitochondrial genome released during cellular stress. Few studies have examined ccf-mtDNA in MDD, and no studies have tested its relationship with intracellular mtDNA-cn or with antidepressant treatment response...
January 30, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29453386/anti-fibrotic-effects-of-cxcr4-targeting-i-body-ad-114-in-preclinical-models-of-pulmonary-fibrosis
#17
K Griffiths, D M Habiel, J Jaffar, U Binder, W G Darby, C G Hosking, A Skerra, G P Westall, C M Hogaboam, M Foley
Idiopathic pulmonary fibrosis (IPF) is a chronic fibrotic lung disease that is prevalent in individuals >50 years of age, with a median survival of 3-5 years and limited therapeutic options. The disease is characterized by collagen deposition and remodeling of the lung parenchyma in a process that is thought to be driven by collagen-expressing immune and structural cells. The G-protein coupled C-X-C chemokine receptor 4, CXCR4, is a candidate therapeutic target for IPF owing to its role in the recruitment of CXCR4 + fibrocytes from the bone marrow to fibrotic lung tissue and its increased expression levels by structural cells in fibrotic lung tissue...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29453348/abcg2-contributes-to-the-development-of-gout-and-hyperuricemia-in-a-genome-wide-association-study
#18
Chung-Jen Chen, Chia-Chun Tseng, Jeng-Hsien Yen, Jan-Gowth Chang, Wen-Cheng Chou, Hou-Wei Chu, Shun-Jen Chang, Wei-Ting Liao
Although many genome-wide association studies (GWASs) of hyperuricemia or gout have been reported, the related genetic factors and the mechanisms from hyperuricemia to gouty attack remain unclear. This study aimed to identify genetic factors and pathogenesis of gout from hyperuricemia by genome-wide association study (GWAS). 747 gout patients, 747 hyperuricemia and 2071 age-matched controls were recruited and analyzed with Affymetrix 650 K chip to find the related genetic variants. The functions of the related genes were investigated in an endothelial cell (EC) with urate crystal stimulation...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29453250/retinal-chitosan-conjugates-effectively-deliver-active-chromophores-to-retinal-photoreceptor-cells-in-blind-mice-and-dogs
#19
Songqi Gao, Shirin Kahremany, Jianye Zhang, Beata Jastrzebska, Janice Querubin, Simon M Petersen-Jones, Krzysztof Palczewski
The retinoid (visual) cycle consists of a series of biochemical reactions needed to regenerate the visual chromophore, 11-cis-retinal and sustain vision. Genetic or environmental factors affecting chromophore production can lead to blindness. Using animal models that mimic human retinal diseases, we previously demonstrated that mechanism-based pharmacological interventions can maintain vision in otherwise incurable genetic diseases of the retina. Here, we report that after 9-cis-retinal administration to lecithin:retinol acyltransferase-deficient (Lrat-/-) mice, the drug was rapidly absorbed and then cleared within 1-2 h...
February 16, 2018: Molecular Pharmacology
https://www.readbyqxmd.com/read/29453223/tissue-engineering-of-retina-and-bruch-s-membrane-a-review-of-cells-materials-and-processes
#20
REVIEW
Yong Sheng Edgar Tan, Pu Jiang Shi, Chang-J Choo, Augustinus Laude, Wai Yee Yeong
The biological, structural and functional configuration of Bruch's membrane (BM) is significantly relevant to age-related macular degeneration (AMD) and other chorioretinal diseases, and AMD is one of the leading causes of blindness in the elderly worldwide. The configuration may worsen along with the ageing of retinal pigment epithelium and BM that finally leads to AMD. Thus, the scaffold-based tissue-engineered retina provides an innovative alternative for retinal tissue repair. The cell and material requirements for retinal repair are discussed including cell sheet engineering, decellularised membrane and tissue-engineered membranes...
February 16, 2018: British Journal of Ophthalmology
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