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Catherine Breen, Jean Mercer, Simon A Jones, Amir Jahic, Lesley Heptinstall, Karen Tylee, William G Newman, Christian Beetz
Mucopolysaccharidosis I (MPS I) is a rare autosomal recessive multisystem lysosomal storage disorder. It is caused by biallelic loss-of-function variants in IDUA, encoding alpha-l iduronidase. Here, we describe an individual affected by MPS I due to a paternally inherited deletion of IDUA exons 1 and 2, c.(?_-88)_(299+1_300-1)del and a whole-gene deletion of IDUA (?_-88?)_(*136?)del secondary to maternal somatic mosaicism. We define a previously unreported mutational mechanism for this disorder.
2016: Human Genome Variation
Ling C Huang, Mercedes Salvador-Silva, Ronika S Leang
OBJECTIVES: To demonstrate correlations among in vitro assays used for assessing cytotoxicity of contact lens multipurpose solution (MPS) and propose the use of multiple assays as a part of preclinical evaluation for MPS biocompatibility assessment. METHODS: The effect of four different MPSs on cell cytotoxicity, metabolic activity, and membrane integrity was performed by evaluating toxicity, expression of tight junction protein zonula occludens-1, and transepithelial electrical resistance in human corneal epithelial cells and Chinese hamster fibroblasts cells...
October 3, 2016: Eye & Contact Lens
Lu Kong, Xiaojie Gao, Jiaqian Zhu, Ting Zhang, Yuying Xue, Meng Tang
To investigate the reproductive toxicity and underlying mechanism of nickel nanoparticles (Ni NPs), Caenorhabditis elegans (C. elegans) were treated with/without 1.0, 2.5, and 5.0 μg cm(-2) of Ni NPs or nickel microparticles (Ni MPs). Generation time, fertilized egg numbers, spermatide activation and motility were detected. Results indicated, under the same treatment doses, that Ni NPs induced higher reproductive toxicity to C. elegans than Ni MPs. Reproductive toxicities observed in C. elegans included a decrease in brood size, fertilized egg and spermatide activation, but an increase in generation time and out-of-round spermatids...
October 17, 2016: Environmental Toxicology
Francyne Kubaski, Harumi Osago, Robert W Mason, Seiji Yamaguchi, Hironori Kobayashi, Mikako Tsuchiya, Tadao Orii, Shunji Tomatsu
Glycosaminoglycans (GAGs) are long blocks of negatively charged polysaccharides. They are one of the major components of the extracellular matrix and play multiple roles in different tissues and organs. The accumulation of undegraded GAGs causes mucopolysaccharidoses (MPS). GAGs are associated with other pathological conditions such as osteoarthritis, inflammation, diabetes mellitus, spinal cord injury, and cancer. The need for further understanding of GAG functions and mechanisms of action boosted the development of qualitative and quantitative (alcian blue, toluidine blue, paper and thin layer chromatography, gas chromatography, high pressure liquid chromatography, capillary electrophoresis, 1,9-dimethylmethylene blue, enzyme linked-immunosorbent assay, mass spectrometry) techniques...
September 28, 2016: Molecular Genetics and Metabolism
W Kyle Mitchell, Bethan E Phillips, Daniel J Wilkinson, John P Williams, Debbie Rankin, Jonathan N Lund, Kenneth Smith, Philip J Atherton
Postprandial limb blood flow and skeletal muscle microvascular perfusion reduce with aging. Here we tested the impact of providing bolus essential amino acids (EAA) in the presence and absence of the nitric oxide precursor, l-Arginine (ARG), upon skeletal muscle blood flow and anabolism in older men. Healthy young (YOUNG: 19.7 ± 0.5 y, N = 8) and older men (OLD, 70 ± 0.8 y, N = 8) received 15 g EAA or (older only) 15 g EAA +3 g ARG (OLD-ARG, 69.2 ± 1.2 y, N = 8). We quantified responses in muscle protein synthesis (MPS; incorporation of (13)C phenylalanine into myofibrillar proteins), leg and muscle microvascular blood flow (Doppler/contrast enhanced ultrasound (CEUS)) and insulin/EAA in response to EEA ± ARG...
October 6, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
Li Ou, Michael J Przybilla, Chester B Whitley
Mucopolysaccharidosis type I (MPS I) is due to deficiency of α-l-iduronidase (IDUA) and subsequent storage of undegraded glycosaminoglycans (GAG). The severe form of the disease, known as Hurler syndrome, is characterized by mental retardation and neurodegeneration of unknown etiology. To identify potential biomarkers and unveil the neuropathology mechanism of MPS I disease, two-dimensional polyacrylamide gel electrophoresis (PAGE) and nanoliquid chromatography-tandem mass spectrometry (nanoLC-MS/MS) were applied to compare proteome profiling of brains from MPS I and control mice (5-month old)...
October 11, 2016: Molecular Genetics and Metabolism
Sanaul Mustafa, V Kusum Devi, Roopa S Pai
Kanamycin sulphate (KS) is a Mycobacterium tuberculosis protein synthesis inhibitor. KS is polycationic, a property responsible for KS poor oral absorption half-life (2.5 h), and rapid renal clearance, which results in serious nephrotoxicity/ototoxicity. The current study aimed to develop KS-loaded PLGA-Vitamin-E-TPGS microparticles (MPs) and nanoparticles (NPs) to reduce the dosing frequency and dose related adverse effect. In vitro release was sustained up to 10 days for KS PLGA-TPGS MPs and 13 days for KS PLGA-TPGS NPs in PBS pH 7...
October 13, 2016: Journal of Microencapsulation
Andrew T Lucas, Taylor F White, Allison M Deal, Leah B Herity, Gina Song, Charlene M Santos, William C Zamboni
The mononuclear phagocyte system (MPS) has previously been shown to significantly affect the clearance, tumor delivery, and efficacy of nanoparticles (NPs). This study profiled MPS cell infiltration in murine preclinical tumor models and evaluated how these differences may affect tumor disposition of PEGylated liposomal doxorubicin (PLD) in models sensitive and resistant to PLD. Significant differences in MPS presence existed between tumor types (e.g. ovarian versus endometrial), cell lines within the same tumor type, and location of tumor implantation (i...
October 5, 2016: Nanomedicine: Nanotechnology, Biology, and Medicine
Francyne Kubaski, Robert W Mason, Akiko Nakatomi, Haruo Shintaku, Li Xie, Naomi N van Vlies, Heather Church, Roberto Giugliani, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Tadao Orii, Toshiyuki Fukao, Adriana M Montaño, Shunji Tomatsu
BACKGROUND: Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressive and usually result in irreversible skeletal, visceral, and/or brain damage, highlighting a need for early diagnosis. METHODS: This pilot study analyzed 2862 dried blood spots (DBS) from newborns and 14 DBS from newborn patients with MPS (MPS I, n = 7; MPS II, n = 2; MPS III, n = 5). Disaccharides were produced from polymer GAGs by digestion with chondroitinase B, heparitinase, and keratanase II...
October 7, 2016: Journal of Inherited Metabolic Disease
Junho Hwang, Sho Kataoka, Akira Endo, Hirofumi Daiguji
Nanofluidic energy harvesting systems have attracted interest in the field of battery application, particularly for miniaturized electrical devices, because they possess excellent energy conversion capability for their size. In this study, a mesoporous silica (MPS)-based nanofluidic energy harvesting system was fabricated and selective ion transport in mesopores as a function of the salt gradient was investigated. Aqueous solutions with three different kinds of monovalent electrolytes-KCl, NaCl, and LiCl-with different diffusion coefficients (D+) were considered...
September 21, 2016: Lab on a Chip
William G McCormack, John P Cooke, William T O'Connor, Philip M Jakeman
Nutrient stimulation of muscle protein synthesis (MPS) is regulated by the change in extracellular essential amino acid (EAA) concentration. In vivo microdialysis (MD) is a minimally invasive sampling technique, capable of sampling solute in the interstitial space of a target tissue. In a contralateral limb design (REST vs. EX), this study utilised in vivo MD to examine the change in skeletal muscle dialysate amino acid concentration following ingestion of whey protein isolate (WPI) and flavoured water (CON)...
October 4, 2016: Amino Acids
Mitsuyoshi Tei, Yozo Suzuki, Masaki Wakasugi, Hiroki Akamatsu
PURPOSE: To compare the perioperative and short-term oncological outcomes of patients who underwent single-port surgery (SPS) with those of patients who underwent multi-port surgery (MPS) for transverse colon cancer. METHODS: The records of consecutive patients who underwent SPS (n = 75) or MPS (n = 41) for transverse colon cancer in our department between January, 2008 and December, 2015 were analyzed retrospectively. RESULTS: Operative times were significantly shorter in the SPS group than in the MPS group (185 vs...
October 3, 2016: Surgery Today
Francyne Kubaski, Heidi H Kecskemethy, H Theodore Harcke, Shunji Tomatsu
To date, the only published reports of bone mineral density (BMD) in MPS IV involve patients with MPS IVA; no reports exist describing BMD for MPS IVB. In this prospective study of BMD in three patients with MPS IVB, BMD was acquired by dual-energy X-ray absorptiometry (DXA) at whole body (WB), lumbar spine (LS), and lateral distal femur (LDF). Functional abilities, ambulatory status, medical history, and height z-score were evaluated. Three patients with MPS IVB (two females), aged 17.7, 31.4 and 31.7 years, were evaluated...
September 2016: Molecular Genetics and Metabolism Reports
Seiji Saito, Kazuki Ohno, Torayuki Okuyama, Hitoshi Sakuraba
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked genetic disorder caused by a deficiency of iduronate 2-sulfatase (IDS), and missense mutations comprising about 30% of the mutations responsible for MPS II result in heterogeneous phenotypes ranging from the severe to the attenuated form. To elucidate the basis of MPS II from the structural viewpoint, we built structural models of the wild type and mutant IDS proteins resulting from 131 missense mutations (phenotypes: 67 severe and 64 attenuated), and analyzed the influence of each amino acid substitution on the IDS structure by calculating the accessible surface area, the number of atoms affected and the root-mean-square distance...
2016: PloS One
Xiu-Ping He, Zi-Ru Lian, Li-Ju Tan, Jiang-Tao Wang
Highly selective and efficient magnetic molecularly imprinted polymers (MMIPs) were prepared using Fe3O4@SiO2 as a magnetic supporter, 3-methacryloxypropyltrimethoxy-silane (MPS) as a silane coupling agent, DIS as a template, methacrylic acid (MAA) as a functional monomer and ethyleneglycol dimethacrylate (EGDMA) as a cross-linker for the extraction of trace residuals of the synthetic estrogen dienestrol (DIS) in seawater, which is a concern worldwide for its endocrine disruption and carcinogenic danger to human health...
October 21, 2016: Journal of Chromatography. A
Frank R Wendt, David H Warshauer, Xiangpei Zeng, Jennifer D Churchill, Nicole M M Novroski, Bing Song, Jonathan L King, Bobby L LaRue, Bruce Budowle
Short tandem repeat (STR) loci are the traditional markers used for kinship, missing persons, and direct comparison human identity testing. These markers hold considerable value due to their highly polymorphic nature, amplicon size, and ability to be multiplexed. However, many STRs are still too large for use in analysis of highly degraded DNA. Small bi-allelic polymorphisms, such as insertions/deletions (INDELs), may be better suited for analyzing compromised samples, and their allele size differences are amenable to analysis by capillary electrophoresis...
September 20, 2016: Forensic Science International. Genetics
Zhipeng Yao, Lixiu Wang, Xiaoming Wu, Lu Zhao, Chunling Chi, Li Guo, Dongxia Tong, Xiaoyan Yang, Zengxiang Dong, Ruijuan Deng, Valerie A Novakovic, Hemant S Thatte, Yayan Bi, Ye Tian, Jialan Shi, Jin Zhou, Junjie Kou, Shaoshan Hu
The role of phosphatidylserine (PS)-mediated procoagulant activity (PCA) in stroke remains unclear. To ascertain this role, early dynamic evolution of PS exposure on blood cells and released microparticles (MPs) and the corresponding PCA were evaluated in patients with acute ischemic stroke (AIS). Flow cytometry analyses revealed that initial levels of PS exposure on erythrocyte, platelet, and leukocyte were 2.40-, 1.36-, and 1.38-fold higher, respectively, in AIS than the risk factor-matched (RF) controls...
September 20, 2016: Translational Stroke Research
Asako Ando, Atsuko Shigenari, Chihiro Kojima-Shibata, Mitsuru Nakajoh, Keiichi Suzuki, Hitoshi Kitagawa, Takashi Shiina, Hidetoshi Inoko, Hirohide Uenishi
By selective breeding for five generations, a Landrace line has been recently established to improve resistance to mycoplasmal pneumonia of swine (MPS), daily gain (DG), back fat thickness (BF), and plasma cortisol concentrations (COR). To clarify the involvement of swine leukocyte antigen (SLA) polymorphisms in the selection process, we investigated possible associations of 11 SLA-class II haplotypes with selected traits or immune parameters. Pigs with the low-resolution SLA haplotype Lr-0.23 or Lr-0.13, which increased in frequency with the passage of generations, had less severe pathological lesions of MPS, increased leukocyte phagocytic activity, and higher white blood cell counts...
October 2016: Comparative Immunology, Microbiology and Infectious Diseases
Andrea De Lorenzo, Leticia Glerian, Ana Carolina Amaral, Thiago B Reis, Ronaldo S L Lima
OBJECTIVE: To evaluate the prevalence of the "metabolically healthy" (MH) or "metabolically unhealthy" (MU) obesity phenotypes and their association with cardiorespiratory fitness and inducible myocardial ischaemia. METHODS: Individuals without known coronary artery disease undergoing myocardial perfusion single-photon emission computed tomography (MPS) were studied. Those without dyslipidemia, hypertension, or diabetes were considered MH, and when ≥1 of these was present, MU status was considered present...
September 13, 2016: Obesity Research & Clinical Practice
Sandra R Breyer, Nicole Muschol, Mona Schmidt, Martin Rupprecht, Kornelia Babin, Jochen Herrmann, Ralf Stücker
BACKGROUND: Hip dysplasia is common in mucopolysaccharidosis type-1H (MPS-1H) patients, but its morphology is not completely understood. No magnetic resonance imaging (MRI)-based studies have been reported in the literature. The purpose of this study was to improve knowledge of hip dysplasia pathology by describing the hip morphology of these patients in MRI scans, plain radiographs, and arthrograms. METHODS: We performed a retrospective chart review of 18 MPS-1H patients...
September 15, 2016: Journal of Pediatric Orthopedics
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