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https://www.readbyqxmd.com/read/28078498/perinatal-exposure-to-bisphenol-a-or-diethylstilbestrol-increases-the-susceptibility-to-develop-mammary-gland-lesions-after-estrogen-replacement-therapy-in-middle-aged-rats
#1
Ayelen L Gomez, Melisa B Delconte, Gabriela A Altamirano, Lucia Vigezzi, Veronica L Bosquiazzo, Luís F Barbisan, Jorge G Ramos, Enrique H Luque, Mónica Muñoz-de-Toro, Laura Kass
The development of the mammary gland is a hormone-regulated event. Several factors can dysregulate its growth and make the gland more susceptible to cellular transformation. Among these factors, perinatal exposure to xenoestrogens and hormone replacement therapy has been associated with increased risk of developing breast cancer. Here, we assessed the effects induced by estrogen replacement therapy (ERT) in ovariectomized (OVX) middle-aged rats and whether perinatal exposure to diethylstilbestrol (DES) or bisphenol A (BPA) modified these effects in the mammary gland...
January 11, 2017: Hormones & Cancer
https://www.readbyqxmd.com/read/28075357/correlations-between-endomyocardial-biopsies-and-cardiac-manifestations-in-taiwanese-patients-with-the-chinese-hotspot-ivs4-919g-a-mutation-data-from-the-fabry-outcome-survey
#2
Ting-Rong Hsu, Fu-Pang Chang, Tzu-Hung Chu, Shih-Hsien Sung, Svetlana Bizjajeva, Wen-Chung Yu, Dau-Ming Niu
We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3) accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G>A (IVS4) mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015). Of 24 males and six females (median age [Q1; Q3] at biopsy 60.4 [57.4; 64.1] and 61.3 [60.4; 65.1] years, respectively), 13 males (54.2%) and five females (83.3%) received agalsidase alfa enzyme replacement therapy (ERT) before biopsy...
January 9, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28070711/immune-suppression-during-preclinical-drug-development-mitigates-immunogenicity-mediated-impact-on-therapeutic-exposure
#3
Jonathan Herskovitz, Josiah Ryman, Theingi Thway, Stephanie Lee, Lei Zhou, Narendra Chirmule, Bernd Meibohm, Vibha Jawa
In the clinical setting, anti-drug antibodies (ADA) against biotherapeutics can influence patient safety and interfere with product efficacy. High immunogenicity has been addressed in clinic by concomitant immune suppression, such as co-administration of methotrexate with enzyme replacement therapy (ERT) and combination tacrolimus/sirolimus treatment for prophylaxis against organ transplant rejection. This study investigates the use of such immune suppressants in mitigating ADA responses to a fully human monoclonal antibody (mAb1) in preclinical animal studies...
January 9, 2017: AAPS Journal
https://www.readbyqxmd.com/read/28065440/glycosaminoglycan-levels-in-dried-blood-spots-of-patients-with-mucopolysaccharidoses-and-mucolipidoses
#4
Francyne Kubaski, Yasuyuki Suzuki, Kenji Orii, Roberto Giugliani, Heather J Church, Robert W Mason, Vũ Chí Dũng, Can Thi Bich Ngoc, Seiji Yamaguchi, Hironori Kobayashi, Katta M Girisha, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
: Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tandem mass spectrometry (MS/MS) have been established to measure GAGs in serum or plasma from MPS and ML patients, but few studies were performed to determine whether these assays are sufficiently robust to measure GAG levels in dried blood spots (DBS) of patients with MPS and ML...
December 22, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28053586/comparison-of-phenotypic-and-pcr-methods-for-detection-of-carbapenemases-production-by-enterobacteriaceae
#5
Maryam AlTamimi, Ali AlSalamah, Manal AlKhulaifi, Hisham AlAjlan
Dissemination of carbapenem resistance via Enterobacteriaceae, particularly among Klebsiella pneumoniae and Escherichia coli, is a major public health concern. Rapid methods for determining antimicrobial susceptibility are important to ensure adequate and appropriate use of antimicrobial agents and to limit the spread of these bacteria. In the current study, we compared the rapidity, sensitivity and specificity of traditional methods and molecular-based Xpert Carba-R PCR assay to identify sixty isolates, (26 E...
January 2017: Saudi Journal of Biological Sciences
https://www.readbyqxmd.com/read/28050459/cardiovascular-abnormalities-in-egyptian-children-with-mucopolysaccharidoses
#6
Laila Selim, Nehal Abdelhamid, Emad Salama, Amera Elbadawy, Iman Gamaleldin, Mohamed Abdelmoneim, Abeer Selim
INTRODUCTION: The Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders. They are characterized by the progressive systemic deposition of Glycosaminoglycans (GAGs). GAGs accumulate in the myocardium and the cardiac valves. Enzyme Replacement Therapy (ERT) is available for MPS I, II, and VI. However, ERT does not appear to improve cardiac valve disease in patients with valve disease present at the start of ERT. AIM: To evaluate the cardiac involvement in Egyptian children with MPS...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28040394/long-term-hematological-visceral-and-growth-outcomes-in-children-with-gaucher-disease-type-3-treated-with-imiglucerase-in-the-international-collaborative-gaucher-group-gaucher-registry
#7
Amal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, Nadia Belmatoug, Gregory A Grabowski, Edwin H Kolodny, Julie L Batista, Gerald F Cox, Pramod K Mistry
In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic form, and type 3 [GD3], the milder chronic neuronopathic form). Enzyme replacement therapy (ERT) with imiglucerase ameliorates and prevents hematological and visceral manifestations in GD1, but data in GD3 are limited to small, single-center series...
December 6, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28029576/could-enzyme-replacement-therapy-promote-immune-tolerance-in-gaucher-disease-type-1
#8
Marina Cadena Matta, Filippo Vairo, Leuridan Cavalcante Torres, Ida Schwartz
Among the lysosomal storage disorders, Gaucher disease (GD) features some of the most striking alterations in the immune system, including increased levels of cytokines and chemokines. Although studies have demonstrated the efficacy of enzyme replacement therapy (ERT) for GD, the ideal dosage remains controversial. In this study, we report differences in levels of cytokines (IL-6, TNF-a, and IFN-y) and chemokines (IL-8, IP-10, and MCP-1) in patients with GD type 1 treated with different ERT dosages and treatment durations...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28011272/resolution-of-hydronephrosis-in-a-patient-with-mucopolysaccharidosis-type-ii-with-enzyme-replacement-therapy
#9
Kei Nishiyama, Takashi Imai, Kazuhiro Ohkubo, Masafumi Sanefuji, Hidetoshi Takada
Mucopolysaccharidosis type II (MPS II) is caused by deficiency of lysosomal enzyme iduronate-2-sulfatase. Insufficient activity of the enzyme results in accumulation of glycosaminoglycans leading to progressive multisystem pathologies. MPS II is less likely to be complicated by kidney and urinary tract problems. We report a boy with MPS II, who developed left hydronephrosis. His hydronephrosis improved after starting enzyme replacement therapy (ERT). It was suggested mucopolysaccharidosis type II was closely associated with the pathogenesis of hydronephrosis...
December 20, 2016: Urology
https://www.readbyqxmd.com/read/27993449/growth-and-final-height-of-children-with-gaucher-disease-a-15-year-follow-up-at-an-israeli-gaucher-center
#10
Espen Mendelsohn, Amos Meir, Aya Abrahamov, Deborah Elstein, Ari Zimran, Floris Levy-Khademi
BACKGROUND: It is held that enzyme replacement therapy (ERT) accelerates the growth rate in children with Gaucher disease, but its effect on final height has not been established with certainty. This study presents final heights of Gaucher patients followed up for 15years. METHODS: The study included 41 adults with non-neuronopathic Gaucher disease. The final height of the patients and age at puberty was compared to their mid-parental target height and to their siblings' heights...
December 9, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27983599/using-crispr-cas9-mediated-gla-gene-knockout-as-an-in-vitro-drug-screening-model-for-fabry-disease
#11
Hui-Yung Song, Huai-Chih Chiang, Wei-Lien Tseng, Ping Wu, Chian-Shiu Chien, Hsin-Bang Leu, Yi-Ping Yang, Mong-Lien Wang, Yuh-Jyh Jong, Chung-Hsuan Chen, Wen-Chung Yu, Shih-Hwa Chiou
The CRISPR/Cas9 Genome-editing system has revealed promising potential for generating gene mutation, deletion, and correction in human cells. Application of this powerful tool in Fabry disease (FD), however, still needs to be explored. Enzyme replacement therapy (ERT), a regular administration of recombinant human α Gal A (rhα-GLA), is a currently available and effective treatment to clear the accumulated Gb3 in FD patients. However, the short half-life of rhα-GLA in human body limits its application. Moreover, lack of an appropriate in vitro disease model restricted the high-throughput screening of drugs for improving ERT efficacy...
December 13, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27981300/cholelithiasis-in-patients-with-gaucher-disease-type-1-risk-factors-and-the-role-of-abcg5-abcg8-gene-variants
#12
Anca Zimmermann, Radu A Popp, Camelia Al-Khzouz, Simona Bucerzan, Ioana Naşcu, Daniel Leucuta, Peter R Galle, Paula Grigorescu-Sido
BACKGROUND AND AIM: Patients with Gaucher disease type 1 (GD1) show an altered lipid profile and a certain degree of insulin resistance, which might contribute to cholelithiasis (CL) and could possibly be associated with ABCG5/ABCG8 gene variants. We aimed to investigate the prevalence of CL in Caucasian adult patients with GD1 and the possible risk factors, including gene variants of the ABCG5/ABCG8 genes. METHODS: 61 Caucasian patients with GD1 (38 female/23male), aged 18-62 years and 61 healthy subjects matched for age, gender and BMI, without CL, for comparison of lipid profiles...
December 2016: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/27980227/mir-494-3p-is-a-novel-tumor-driver-of-lung-carcinogenesis
#13
Alice Faversani, Stefano Amatori, Claudia Augello, Federico Colombo, Laura Porretti, Mirco Fanelli, Stefano Ferrero, Alessandro Palleschi, Pier Giuseppe Pelicci, Elena Belloni, Giulia Ercoli, Anna Degrassi, Marco Baccarin, Dario C Altieri, Valentina Vaira, Silvano Bosari
Lung cancer is the leading cause of tumor-related death worldwide and more efforts are needed to elucidate lung carcinogenesis. Here we investigated the expression of 641 miRNAs in lung tumorigenesis in a K-Ras(+/LSLG12Vgeo);RERTn(ert/ert) mouse model and 113 human tumors. The conserved miRNA cluster on chromosome 12qF1 was significantly and progressively upregulated during murine lung carcinogenesis. In particular, miR-494-3p expression was correlated with lung cancer progression in mice and with worse survival in lung cancer patients...
December 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27955980/the-metabolism-of-glucocerebrosides-from-1965-to-the-present
#14
REVIEW
Anthony H Futerman, Frances M Platt
Gaucher disease is caused by the defective catabolism of the simple glycosphingolipid, glucosylceramide (GlcCer), due to mutations in the GBA1 gene which encodes for acid β-glucosidase (GCase), the lysosomal enzyme that degrades GlcCer. Today, Gaucher disease patients are routinely treated with recombinant GCase, in a treatment regimen known as enzyme replacement therapy (ERT). We now review the biochemical basis of ERT and discuss how this treatment has advanced since it was first pioneered by Dr. Roscoe Brady in the 1960s...
December 2, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27942037/time-of-initiating-enzyme-replacement-therapy-affects-immune-abnormalities-and-disease-severity-in-patients-with-gaucher-disease
#15
Renuka Pudi Limgala, Chidima Ioanou, Matthew Plassmeyer, Mark Ryherd, Lina Kozhaya, Lauren Austin, Cem Abidoglu, Derya Unutmaz, Oral Alpan, Ozlem Goker-Alpan
Gaucher disease (GD) patients often present with abnormalities in immune response that may be the result of alterations in cellular and/or humoral immunity. However, how the treatment and clinical features of patients impact the perturbation of their immunological status remains unclear. To address this, we assessed the immune profile of 26 GD patients who were part of an enzyme replacement therapy (ERT) study. Patients were evaluated clinically for onset of GD symptoms, duration of therapy and validated outcome measures for ERT...
2016: PloS One
https://www.readbyqxmd.com/read/27927596/quantification-of-muscle-pathology-in-infantile-pompe-disease
#16
Anne Schänzer, Ann-Kathrin Kaiser, Christian Mühlfeld, Martin Kulessa, Werner Paulus, Harald von Pein, Marianne Rohrbach, Lara Viergutz, Eugen Mengel, Thorsten Marquardt, Bernd Neubauer, Till Acker, Andreas Hahn
The effects of enzyme replacement therapy (ERT) in infantile Pompe disease are variable, necessitating the identification of biomarkers to assess the severity of disease and response to ERT. The aims of this study were to investigate whether quantification of muscle pathology in infantile Pompe disease prior to and during ERT is feasible at the light microscope, and to develop a score that summarizes the degree of muscle pathology in a comprehensive manner from PAS-stained resin sections alone. We, therefore, determined glycogen load, extent of muscle fibre disruption, and amount of autophagic vacuoles in resin-embedded muscle biopsy specimens from 11 infantile Pompe patients and 2 with early childhood phenotype by quantitative methods, correlated the findings with ultrastructural analyses, compared PAS-stained resin sections with conventional PAS-stained cryosections, and related the quantified degree of muscle damage from infantile patients to the effects of ERT...
November 3, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27924574/genetic-validation-of-cell-proliferation-via-ras-independent-activation-of-the-raf-mek-erk-pathway
#17
Carmen G Lechuga, Lucía Simón-Carrasco, Harrys K C Jacob, Matthias Drosten
Signaling transmitted by the Ras family of small GTPases (H-, N-, and K-Ras) is essential for proliferation of mouse embryonic fibroblasts (MEFs). However, constitutive activation of the downstream Raf/Mek/Erk pathway can bypass the requirement for Ras proteins and allow cells to proliferate in the absence of the three Ras isoforms. Here we describe a protocol for a colony formation assay that permits evaluating the role of candidate proteins that are positive or negative regulators of cell proliferation mediated via Ras-independent Raf/Mek/Erk pathway activation...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27923632/puerarin-suppression-of-a%C3%AE-1-42-induced-primary-cortical-neuron-death-is-largely-dependent-on-er%C3%AE
#18
Li Li, Zuguang Xue, Lei Chen, Xueyu Chen, Heshuang Wang, Xiaobo Wang
Recent study has suggested that estrogen replacement therapy (ERT) can decrease the risk of the development of Alzheimer's disease (AD), and phytoestrogen has been proposed as a potential alternative to ERT. In this study, we investigated the protective function of puerarin (a phytoestrogen isolated from puerarin lobate) against amyloid beta (Aβ1-42)-induced toxicity in cortical neurons and established the connection between such a protection and estrogen receptor (ER) activation. Puerarin suppressed Aβ1-42-induced cortical neuron death in a concentration-dependent manner...
December 3, 2016: Brain Research
https://www.readbyqxmd.com/read/27916847/aortic-root-dilatation-in-mucopolysaccharidosis-i-vii
#19
Meena Bolourchi, Pierangelo Renella, Raymond Y Wang
The prevalence of aortic root dilatation (ARD) in mucopolysaccharidosis (MPS) is not well documented. We investigated aortic root measurements in 34 MPS patients at the Children's Hospital of Orange County (CHOC). The diagnosis, treatment status, age, gender, height, weight and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)) were extracted by retrospective chart review and echocardiographic measurements. Descriptive statistics, ANOVA, and paired post-hoc t-tests were used to summarize the aortic dimensions...
November 29, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#20
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
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