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Sly syndrome

Maree Flaherty, Katie Geering, Stephanie Crofts, John Grigg
BACKGROUND: Sly syndrome (Mucopolysaccharidosis Type VII) is an autosomal recessive metabolic storage disorder due to mutations in the GUSB gene encoding the enzyme beta-glucuronidase. Deficiency of this lysosomal enzyme impairs the body's ability to break down the glycosaminoglycans - dermatan, heparan and chondroitin sulphate. Coarse facial features and macrocephaly are typically seen along with bony and skeletal abnormalities, including joint contractures and short stature. Widespread involvement occurs in many other tissues including cardiopulmonary, gastrointestinal, and neurological systems...
September 20, 2016: Ophthalmic Genetics
Shaolong Chen, Wenlong Xie, Kai Wu, Ping Li, Zhiqiang Ren, Lin Li, Yuan Yuan, Chunmao Zhang, Yuling Zheng, Qingyu Lv, Hua Jiang, Yongqiang Jiang
Most of the deaths that occurred during two large outbreaks of Streptococcus suis infections in 1998 and 2005 in China were caused by streptococcal toxic shock syndrome (STSS), which is characterized by increased vascular permeability. Heparin-binding protein (HBP) is thought to mediate the vascular leakage. The purpose of this study was to investigate the detailed mechanism underlying the release of HBP and the vascular leakage induced by S. suis. Significantly higher serum levels of HBP were detected in Chinese patients with STSS than in patients with meningitis or healthy controls...
2016: Frontiers in Microbiology
Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Robert Greenstein, Mercedes Pineda, Antonio Gonzalez-Meneses, Mahmut Çoker, Dennis Bartholomew, Mark S Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory Pastores, Anastasia K Ketko, Fatih Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E Falk, Kaustuv Bhattacharya, José Franco, Klane K White, Grant A Mitchell, Loreta Cimbalistiene, Max Holtz, William S Sly
BACKGROUND: Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. METHODS: We have conducted a survey of physicians to document the medical history of patients with MPS VII...
June 2016: Journal of Medical Genetics
Tobias Eisenberg, Christoph Hudemann, Hamid M Hossain, Angela Hewer, Khodr Tello, Dirk Bandorski, Manfred Rohde, Peter Valentin-Weigand, Christoph Georg Baums
A Streptococcus suis isolate from a German hunter with streptococcal toxic shock-like syndrome (STSLS) and four additional zoonotic isolates were genotyped as mrp(+) epf* (variant 1890) sly(+) cps2(+). All five zoonotic German strains were characterized by high multiplication in human blood samples ex vivo, but induction of only low levels of proinflammatory cytokines compared to a Chinese STSLS strain.
December 2015: Journal of Clinical Microbiology
Faez Iqbal Khan, Mohd Shahbaaz, Krishna Bisetty, Abdul Waheed, William S Sly, Faizan Ahmad, Md Imtaiyaz Hassan
The lysosomal storage disorders are a group of 50 unique inherited diseases characterized by unseemly lipid storage in lysosomes. These malfunctions arise due to genetic mutations that result in deficiency or reduced activities of the lysosomal enzymes, which are responsible for catabolism of biological macromolecules. Sly syndrome or mucopolysaccharidosis type VII is a lysosomal storage disorder associated with the deficiency of β-glucuronidase (EC that catalyzes the hydrolysis of β-D-glucuronic acid residues from the non-reducing terminal of glycosaminoglycan...
January 15, 2016: Gene
Lili Bi, Yaya Pian, Shaolong Chen, Zhiqiang Ren, Peng Liu, Qingyu Lv, Yuling Zheng, Shengwei Zhang, Huaijie Hao, Yuan Yuan, Yongqiang Jiang
Streptococcus suis serotype 2 (SS2) is an emerging human pathogen worldwide. A large outbreak occurred in the summer of 2005 in China. Serum samples from this outbreak revealed that levels of the main proinflammatory cytokines were significantly higher in patients with streptococcal toxic-shock-like syndrome (STSLS) than in patients with meningitis only. However, the mechanism underlying the cytokine storm in STSLS caused by SS2 remained unclear. In this study, we found that suilysin (SLY) is the main protein inflammatory stimulus of SS2 and that native SLY (nSLY) stimulated cytokines independently of its haemolytic ability...
2015: Frontiers in Microbiology
Thomas J Gniadek, Nicole Singer, Norman J Barker, Philip J Spevak, Barbara J Crain, David Valle, Marc K Halushka
We present the cardiac findings from the autopsy of a 28-year-old male with mucopolysaccharidosis VII (MPS VII), also known as Sly Syndrome, whose diagnosis was confirmed by biochemical testing. The patient died a sudden cardiac death. Autopsy showed thickened and stenotic aortic valve leaflets as well as marked concentric intimal thickening of the aorta and muscular arteries. There was left ventricular hypertrophy as well as mild papillary muscle thickening and fusion. Increased colloid iron staining was seen in the small- and medium-sized arteries of the heart and at the intercalated discs...
September 2015: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
Joyce E Fox, Linda Volpe, Josephine Bullaro, Emil D Kakkis, William S Sly
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is a very rare lysosomal storage disease caused by a deficiency of the enzyme β-glucuronidase (GUS), which is required for the degradation of three glycosaminoglycans (GAGs): dermatan sulfate, heparan sulfate, and chondroitin sulfate. Progressive accumulation of these GAGs in lysosomes leads to increasing dysfunction in numerous tissues and organs. Enzyme replacement therapy (ERT) has been used successfully for other MPS disorders, but there is no approved treatment for MPS VII...
February 2015: Molecular Genetics and Metabolism
Shunji Tomatsu, Eriko Yasuda, Pravin Patel, Kristen Ruhnke, Tsutomu Shimada, William G Mackenzie, Robert Mason, Mihir M Thacker, Mary Theroux, Adriana M Montaño, Carlos J Alméciga-Díaz, Luis A Barrera, Yasutsugu Chinen, William S Sly, Daniel Rowan, Yasuyuki Suzuki, Tado Orii
Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG) accumulation: keratan sulfate (KS) and chondroitin-6-sulfate (C6S). The majority of KS is produced in the cartilage, therefore, the undegraded substrates accumulate mainly in cartilage and in its extracelluar matrix (ECM), causing direct leads to direct impact on cartilage and bone development and leading to the resultant systemic skeletal spondyloepiphyseal dysplasia...
September 2014: Pediatric Endocrinology Reviews: PER
Zhengxin He, Yaya Pian, Zhiqiang Ren, Lili Bi, Yuan Yuan, Yuling Zheng, Yongqiang Jiang, Fukun Wang
Streptococcus suis serotype 2 (SS2) is widely recognized in the veterinary world as the cause of rapidly progressive and fatal sepsis in infant pigs, manifested with meningitis, polyarthritis and pneumonia. It has evolved into a highly infectious strain, and caused two large-scale outbreaks of human epidemic in China, characterized bytypical toxic-shock syndrome and invasive infection. However, the molecular basis of virulence of this emerging zoonotic pathogen is still largely unknown. The present study shows that the sequence type (ST)7 epidemic strain S...
December 2014: Molecular Medicine Reports
B Héron
Mucopolysaccharidoses (MPS) are progressive multisystem lysosomal storage diseases caused by defective catabolism of complex molecules, namely the glycosaminoglycans and their consequent accumulation in tissues. Of the 7 clinical types representing 11 different enzyme deficiencies, only MPS III (Sanfilippo syndromes A, B, C and D) and severe forms of MPS I (Hurler's syndrome), MPS II (severe Hunter syndrome) and MPS VII (severe Sly syndrome) give rise to progressive cerebral disease. Neurosensory complications (hearing impairment, retinopathy and optic atrophy) can also occur in some types...
June 2014: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Shunji Tomatsu, William G Mackenzie, Mary C Theroux, Robert W Mason, Mihir M Thacker, Thomas H Shaffer, Adriana M Montaño, Daniel Rowan, William Sly, Carlos J Alméciga-Díaz, Luis A Barrera, Yasutsugu Chinen, Eriko Yasuda, Kristen Ruhnke, Yasuyuki Suzuki, Tadao Orii
Patients with mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) have accumulation of the glycosaminoglycans, keratan sulfate, and chondroitin-6-sulfate, in bone and cartilage, causing systemic spondyloepiphyseal dysplasia. Features include lumbar gibbus, pectus carinatum, faring of the rib cage, marked short stature, cervical instability and stenosis, kyphoscoliosis, genu valgum, and laxity of joints. Generally, MPS IVA patients are wheelchair-bound as teenagers and do not survive beyond the second or third decade of life as a result of severe bone dysplasia, causing restrictive lung disease and airway narrowing, increasing potential for pneumonia and apnea; stenosis and instability of the upper cervical region; high risk during anesthesia administration due to narrowed airway as well as thoracoabdominal dysfunction; and surgical complications...
December 2012: Research and Reports in Endocrine Disorders
María Consuelo Escamilla-Nuñez, Albino Barraza-Villarreal, Leticia Hernández-Cadena, Efraín Navarro-Olivos, Peter D Sly, Isabelle Romieu
BACKGROUND: Prenatal consumption of omega-3 fatty acids can act as an adjuvant in the development of the immune system and affect the inflammatory response of neonates. METHODS: We conducted a double-blind, randomized, placebo-controlled trial in Cuernavaca, Mexico. We randomly assigned 1,094 pregnant women (18-35 years of age) to receive 400 mg/d of algal docosahexaenoic acid (DHA) or placebo from 18 to 22 weeks of gestation through delivery. Birth outcomes and respiratory symptoms information until 18 months were available for 869 mother-child pairs...
August 2014: Chest
Jun-xi Zheng, Yue Li, Hui Zhang, Hong-jie Fan, Cheng-ping Lu
Streptococcussuis serotype 2 (SS 2) is an important zoonotic pathogen that has caused two major infectious outbreaks of streptococcal toxic shock syndrome (STSS) in China. A novel gene located in the 89K pathogenicity island (PAI) encoding a putative hemolysin-III-related protein (Hhly3) has been previously characterized. In this study, the SS2 deletion mutant of the exogenous gene hhly3 was constructed by homologous recombination. This protein was found to exhibit cytolytic activity, and hemolytic activity of the hhly3 gene knockout mutant (Δhhly3) was significantly lower than that in the wild-type strain ZY05719...
2013: PloS One
Huamao Du, Wei Huang, Hefang Xie, Changyun Ye, Huaiqi Jing, Zhihong Ren, Jianguo Xu
Streptococcus suis is a persistent global hazard in the swine industry and an emerging threat to public health. The high mortality in China following outbreaks of streptococcal toxic shock syndrome (STSS) underscores the urgency for effective prevention. A limited understanding of the pathogenesis of S. suis in STSS may explain the lack of biological products for prevention. Suilysin (SLY) is an important virulence factor in the pathogenesis of S. suis. To identify a candidate vaccine for S. suis-induced STSS, we constructed a recombinant non-hemolytic mutant of SLY that has hemagglutination activity, rSLY(P353L), and evaluated its ability to induce inflammatory response and prevent fatal S...
August 28, 2013: Vaccine
Taku Sato, Mahoko Ikeda, Satoshi Yotsumoto, Yohta Shimada, Takashi Higuchi, Hiroshi Kobayashi, Takahiro Fukuda, Toya Ohashi, Toshio Suda, Toshiaki Ohteki
Hematopoietic stem cell (HSC) gene therapy is a potentially curative treatment modality for monogenic hematological diseases and storage disorders. It is necessary, however, to establish pre-bone marrow (BM) transplant conditioning regimens that minimize DNA damage and toxicity. Type I interferon (IFN) signaling activates quiescent HSCs and enables them to be sensitive to 5-fluorouracil (FU)-mediated cytotoxicity, thus implying a molecular basis for improving HSC transplant outcomes. Here we show that type I IFN preconditioning, without irradiation or DNA alkylating agents, significantly enhanced the HSC engraftment efficiency in wild-type (WT) recipient mice...
April 18, 2013: Blood
Vassili Valayannopoulos, Frits A Wijburg
Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have greatly improved the outlook for patients with MPS disorders. Optimal management of these multisystemic disorders involves a multidisciplinary team and regular, comprehensive follow-up. Enzyme replacement therapy (ERT) is now available for MPS I (Hurler, Hurler-Scheie and Scheie syndromes) (laronidase), MPS II (Hunter syndrome) (idursulfase) and MPS VI Maroteaux-Lamy (galsulfase), and is in development for MPS IV (Morquio syndrome) and MPS VII (Sly syndrome)...
December 2011: Rheumatology
Hisashi Ohkuni, Hideaki Nagamune, Nana Ozaki, Atsushi Tabata, Yuko Todome, Yukino Watanabe, Hidemi Takahashi, Kazuto Ohkura, Hiroki Kourai, Hiroki Ohtsuka, Vincent A Fischetti, John B Zabriskie
We previously purified Streptococcus mitis-derived human platelet aggregation factor (Sm-hPAF) from the culture supernatant of S. mitis strain Nm-65, isolated from the tooth surface of a patient with Kawasaki disease. Here we produced recombinant Sm-hPAF protein (rSm-hPAF) in Escherichia coli, to determine whether rSm-hPAF conserves its platelet aggregation activity. rSm-hPAF precursor (665 amino acids) shows up to 36-56% identity with the family of cholesterol-dependent cytolysins (CDCs), and rSm-hPAF displayed potent hemolytic activity toward mammalian erythrocytes, including human erythrocytes with platelet aggregation activity...
January 2012: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
Robert D Young, Petra Liskova, Christian Pinali, Barbara P Palka, Michalis Palos, Katerina Jirsova, Enkela Hrdlickova, Marketa Tesarova, Milan Elleder, Jiri Zeman, Keith M Meek, Carlo Knupp, Andrew J Quantock
PURPOSE: Deficiencies in enzymes involved in proteoglycan (PG) turnover underlie a number of rare mucopolysaccharidoses (MPS), investigations of which can considerably aid understanding of the roles of PGs in corneal matrix biology. Here, the authors analyze novel pathologic changes in MPS VII (Sly syndrome) to determine the nature of PG-collagen associations in stromal ultrastructure. METHODS: Transmission electron microscopy and electron tomography were used to investigate PG-collagen architectures and interactions in a cornea obtained at keratoplasty from a 22-year-old man with MPS VII, which was caused by a compound heterozygous mutation in the GUSB gene...
August 2011: Investigative Ophthalmology & Visual Science
Shunji Tomatsu, Adriana M Montaño, Vu Chi Dung, Amiko Ohashi, Hirotaka Oikawa, Toshihiro Oguma, Tadao Orii, Luis Barrera, William S Sly
Mucopolysaccharidosis IVA (MPS IVA, Morquio A disease) is an inherited lysosomal storage disorder that features skeletal chondrodysplasia caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Human GALNS was bioengineered with the N-terminus extended by the hexaglutamate sequence (E6) to improve targeting to bone (E6-GALNS). We initially assessed blood clearance and tissue distribution. Next, to assess the effectiveness of storage clearance and reversal of pathological phenotype, a dose of 250 U/g of enzyme was given weekly to Morquio A mice (adults: 12 or 24 weeks, newborn: 8 weeks)...
June 2010: Molecular Therapy: the Journal of the American Society of Gene Therapy
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