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S Somanadhan, P J Larkin
BACKGROUND: Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseases is increasingly novel, and of clinical importance to the population, the lack of empirical data in the field to support policy and strategy development is a compelling argument for further research to be sought...
October 10, 2016: Orphanet Journal of Rare Diseases
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
William I Wooten, Marianne S Muhlebach, Joseph Muenzer, Ceila E Loughlin, Bradley V Vaughn
Mucolipidosis II (Inclusion cell or I-cell disease) is an autosomal recessive lysosomal storage disorder clinically comparable to the mucopolysaccharidoses (MPS), characterized by progressive respiratory and neurologic deterioration. Sleep problems, especially obstructive sleep apnea (OSA) and disrupted sleep architecture, are observed in other lysosomal storage diseases but have not been described in mucolipidosis II. We report the progression of polysomnographic abnormalities in a child with mucolipidosis II, demonstrated by worsening sleep-related hypoventilation, OSA, and sleep state fragmentation despite advancing PAP therapy...
September 29, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
Roberta Reichert, Lillian Gonçalves Campos, Filippo Vairo, Carolina Fischinger Moura de Souza, Juliano Adams Pérez, Juliana Ávila Duarte, Fernando Araujo Leiria, Maurício Anés, Leonardo Modesti Vedolin
Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the group of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). The products of GAG degradation accumulate within lysosomes and in the extracellular space, thereby interfering with the degradation of other macromolecules. This process leads to chronic degeneration of cells, which in turn affects multiple organs and systems...
September 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Julia B Hennermann, Seyfullah Gökce, Alexander Solyom, Eugen Mengel, Edward H Schuchman, Calogera M Simonaro
Current treatment options for MPS I have limited effects on some organs, including the skeletal system. In MPS animal models pentosan polysulphate (PPS) reduces the concentrations of glycosaminoglycans (GAGs) in tissues and body fluids and improves cartilaginous and osseous pathologies. The goals of this study were to investigate primarily the safety and secondary the clinical effects, concerning mobility and pain, of PPS treatment in MPS I patients. Four MPS I-Hurler-Scheie/-Scheie patients aged 35.6 ± 6...
November 2016: Journal of Inherited Metabolic Disease
Pär K Ingvarsson, Torgeir R Hvidsten, Nathaniel R Street
Contents 338 I. 338 II. 339 III. 340 IV. 342 343 References 343 SUMMARY: The past decade saw the initiation of an ongoing revolution in sequencing technologies that is transforming all fields of biology. This has been driven by the advent and widespread availability of high-throughput, massively parallel short-read sequencing (MPS) platforms. These technologies have enabled previously unimaginable studies, including draft assemblies of the massive genomes of coniferous species and population-scale resequencing...
October 2016: New Phytologist
Christiane Auray-Blais, Pamela Lavoie, Shunji Tomatsu, Vassili Valayannopoulos, John J Mitchell, Julian Raiman, Maxime Beaudoin, Bruno Maranda, Joe T R Clarke
Mucopolysaccharidoses (MPSs) are a group of disorders resulting from primary defects in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Depending on the specific enzyme defect, the catabolism of one or more GAGs is blocked leading to accumulation in tissues and biological fluids. GAG measurements are important for high-risk screening, diagnosis, monitoring treatment efficacy, and patient follow up. The dimethylmethylene blue (DMB) spectrophotometric method commonly used in most biochemical genetics laboratories relies on a non-specific total GAG analysis which has led to false positive results, and even false negative results (mainly for MPS III and IV patients)...
September 14, 2016: Analytica Chimica Acta
Jianmin Wang, Zuo Luan, Hua Jiang, Jianpei Fang, Maoquan Qin, Vincent Lee, Jing Chen
We investigated the efficacy of allogeneic hematopoietic stem cell transplantation (alloHSCT) in pediatric patients with mucopolysaccharidosis (MPS). A retrospective analysis of transplantation data from 34 cases of MPS from the China Children Transplant Group, treated between December 2004 and September 2015, was conducted. Among the 34 cases, 12 cases were type I, 12 were type II, 4 were type IV, 4 were type VI, and 2 were of an unknown type. The median age at transplantation was 3.75 years (range, 1 to 7 years); the median follow-up time was 14 months (range, 2 to 119 months)...
November 2016: Biology of Blood and Marrow Transplantation
Zhe Li Salie, Karen A Kirby, Eleftherios Michailidis, Bruno Marchand, Kamalendra Singh, Lisa C Rohan, Eiichi N Kodama, Hiroaki Mitsuya, Michael A Parniak, Stefan G Sarafianos
4'-Ethynyl-2-fluoro-2'-deoxyadenosine (EFdA) is the most potent nucleoside analog inhibitor of HIV reverse transcriptase (RT). It retains a 3'-OH yet acts as a chain-terminating agent by diminishing translocation from the pretranslocation nucleotide-binding site (N site) to the posttranslocation primer-binding site (P site). Also, facile misincorporation of EFdA-monophosphate (MP) results in difficult-to-extend mismatched primers. To understand the high potency and unusual inhibition mechanism of EFdA, we solved RT crystal structures (resolutions from 2...
August 16, 2016: Proceedings of the National Academy of Sciences of the United States of America
Xavier Delabranche, Laure Stiel, François Severac, Anne-Cécile Galoisy, Laurent Mauvieux, Fatiha Zobairi, Thierry Lavigne, Florence Toti, Eduardo Anglès-Cano, Ferhat Meziani, Julie Boisramé-Helms
INTRODUCTION: Neutrophils extracellular traps (NETs) have recently emerged as a new potential link between inflammation, immunity and thrombosis and could play a key role in septic shock-induced disseminated intravascular coagulation (DIC) pathogenesis. The objective of our study was to investigate a potential link between NETosis and septic-shock induced DIC. METHODS: Twenty patients with septic shock (10 without and 10 with DIC according to JAAM 2006 score) were prospectively included in our study...
August 2, 2016: Shock
Katarzyna A Ellsworth, Laura M Pollard, Sara Cathey, Tim Wood
Keratan sulfate (KS) is commonly elevated in urine samples from patients with mucopolysaccharidosis type IVA (MPS IVA) and is considered pathognomonic for the condition. Recently, a new method has been described by Martell et al. to detect and measure urinary KS utilizing LC-MS/MS. As a part of the validation of this method in our laboratory, we studied the sensitivity and specificity of elevated urine KS levels using 25 samples from 15 MPS IVA patients, and 138 samples from 102 patients with other lysosomal storage disorders, including MPS I (n = 9), MPS II (n = 13), MPS III (n = 23), MPS VI (n = 7), beta-galactosidase deficiency (n = 7), mucolipidosis (ML) type II, II/III and III (n = 51), alpha-mannosidosis (n = 11), fucosidosis (n = 4), sialidosis (n = 5), Pompe disease (n = 3), aspartylglucosaminuria (n = 4), and galactosialidosis (n = 1)...
July 28, 2016: JIMD Reports
Christoph Kampmann, Christiane M Wiethoff, Ralf G Huth, Gundula Staatz, Eugen Mengel, Michael Beck, Stefan Gehring, Torsten Mewes, Tariq Abu-Tair
Several different lysosomal storage diseases, mainly mucopolysaccharidosis (MPS) type I, II, and VI, are complicated by severe obstruction of the upper airways, tracheobronchial malacia, and/or stenosis of the lower airways. Although enzyme replacement therapies (ERTs) are available, the impact of these on tracheobronchial alterations has not been reported. By extending the life expectancy of MPS patients with ERTs, airway problems may become more prevalent at advanced ages. These airway abnormalities can result in severe, potentially fatal, difficulties during anesthetic procedures...
July 22, 2016: JIMD Reports
Leonardo M Botelho, Leon Morales-Quezada, Joanna R Rozisky, Aline P Brietzke, Iraci L S Torres, Alicia Deitos, Felipe Fregni, Wolnei Caumo
Myofascial pain syndrome (MPS) is a leading cause of chronic musculoskeletal pain. However, its neurobiological mechanisms are not entirely elucidated. Given the complex interaction between the networks involved in pain process, our approach, to providing insights into the neural mechanisms of pain, was to investigate the relationship between neurophysiological, neurochemical and clinical outcomes such as corticospinal excitability. Recent evidence has demonstrated that three neural systems are affected in chronic pain: (i) motor corticospinal system; (ii) internal descending pain modulation system; and (iii) the system regulating neuroplasticity...
2016: Frontiers in Human Neuroscience
Radha Rama Devi Akella, Srilatha Kadali
BACKGROUND: Amniotic fluid glycosaminoglycan estimation is a useful marker in fetuses affected with mucopolysaccharidoses (MPS). Although known for long, it is not widely used in the prenatal diagnosis. With the availability of more reliable analytical testing and knowledge of normal levels at specific gestations, amniotic fluid glycosaminoglycan at 16-22weeks of gestation can be a useful biomarker in the prenatal diagnosis of MPS. METHODS: Forty-one women with normal pregnancies were tested for glycosaminoglycan levels in the amniotic fluid and 8 pregnancies with known family history of MPS were tested by sulphated glycosaminoglycan assay...
September 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Marika Salvalaio, Laura Rigon, Daniela Belletti, Francesca D'Avanzo, Francesca Pederzoli, Barbara Ruozi, Oriano Marin, Maria Angela Vandelli, Flavio Forni, Maurizio Scarpa, Rosella Tomanin, Giovanni Tosi
Lysosomal Storage Disorders (LSDs) are a group of metabolic syndromes, each one due to the deficit of one lysosomal enzyme. Many LSDs affect most of the organ systems and overall about 75% of the patients present neurological impairment. Enzyme Replacement Therapy, although determining some systemic clinical improvements, is ineffective on the CNS disease, due to enzymes' inability to cross the blood-brain barrier (BBB). With the aim to deliver the therapeutic enzymes across the BBB, we here assayed biodegradable and biocompatible PLGA-nanoparticles (NPs) in two murine models for LSDs, Mucopolysaccharidosis type I and II (MPS I and MPS II)...
2016: PloS One
Philip J Atherton, Vinod Kumar, Anna L Selby, Debbie Rankin, Wulf Hildebrandt, Beth E Phillips, John P Williams, Natalie Hiscock, Kenneth Smith
Maximizing anabolic responses to feeding and exercise is crucial for muscle maintenance and adaptation to exercise training. We hypothesized that enriching a protein drink with leucine would improve anabolic responses to resistance exercise (RE: 6 × 8 knee-extension repetitions at 75% of 1-RM) in both young and older adults. Groups (n = 9) of young (24 ± 6 y, BMI 23 ± 2 kg m(-2)) and older men (70 ± 5 y, BMI 25 ± 2 kg m(-2)) were randomized to either: (i) RE followed by Slim-Fast Optima (SFO 10 g PRO; 24 g CHO) with 4...
April 30, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
X T Bui, T P T Vo, H H Ngo, W S Guo, T T Nguyen
With the introduction and discharge of thousands of new micropollutants (MPs) every year, traditional water and wastewater treatment plants may be incapable of tackling them all. With their low concentrations and diversity in nature, MP removal encounters numerous challenges. Although some MPs are effectively eliminated via conventional treatment methods, most of them can easily escape and are retained in the discharged effluent. Therefore, advanced methods such as (i) adsorption, (ii) oxidation and advanced oxidation processes (O3 and O3-based advanced oxidation processes, UV/H2O2), (iii) membrane processes, and (iv) membrane bioreactors, become an inevitable approach...
September 1, 2016: Science of the Total Environment
H Shaker, A S Rothmeier, C C Kirwan, W Ruf
INTRODUCTION: Tissue Factor (TF) promotes apoptosis-resistance and facilitates haematogenous metastasis. Cancer cells release TF-bearing microparticles (TF-MP) which have pro-coagulant activity. TF-MPs from cancer cells induce increase in TF expression and procoagulant activity of recipient endothelial cells. Drug resistance microparticles transfer between cancer cells, resulting in induction of recipient cell drug resistance, however transfer of TF-MPs between cancer cells has not been demonstrated...
April 2016: Thrombosis Research
Anusha Uttarilli, Prajnya Ranganath, Divya Matta, Jamal Md Nurul Jain, Krishna Prasad C, Sobhan Babu A, Katta M Girisha, Ishwar C Verma, Shubha R Phadke, Kausik Mandal, Ratna D Puri, Shagun Aggarwal, Sumita Danda, Sankar V H, Seema Kapoor, Meenakshi Bhat, Kalpana Gowrishankar, Annie Q Hasan, Mohandas Nair, Sheela Nampoothiri, Ashwin Dalal
Mucopolysaccharidoses (MPS), a sub-group of lysosomal storage disorders, are caused due to deficiency of specific lysosomal enzyme involved in catabolism of glycosaminoglycans. To date more than 200 pathogenic variants in the alpha-L-iduronidase (IDUA) for MPS I and ~500 pathogenic variants in the iduronate-2-sulphatase (IDS) for MPS II have been reported worldwide. The mutation spectrum of MPS type I and MPS type II disorders in Indian population is not characterized yet. In the present study we carried out clinical, biochemical, molecular and in silico analyses to establish the mutation spectrum of MPS I and MPS II in the Indian population...
May 5, 2016: Clinical Genetics
Alia Ahmed, Elsa Shapiro, Kyle Rudser, Alicia Kunin-Batson, Kelly King, Chester B Whitley
INTRODUCTION: The mucopolysaccharidoses (MPSs) are a group of rare genetic lysosomal disorders with progressive multisystem involvement. An MPS-specific physical symptom scale was developed and introduced a Physical Symptom Score (PSS) to quantify the somatic disease burden across MPS I, II and VI. HYPOTHESIS: Somatic burden of disease in patients with attenuated MPS I, II and VI as measured by the PSS will be positively associated with age and negatively associated with neuropsychological functions [i...
June 2016: Molecular Genetics and Metabolism Reports
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