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Sanfilippo syndrome

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https://www.readbyqxmd.com/read/28601604/axonal-dystrophy-in-the-brain-of-mice-with-sanfilippo-syndrome
#1
Helen Beard, Sofia Hassiotis, Wei-Ping Gai, Emma Parkinson-Lawrence, John J Hopwood, Kim M Hemsley
Axonal dystrophy has been described as an early pathological feature of neurodegenerative disorders including Alzheimer's disease and amyotrophic lateral sclerosis. Axonal inclusions have also been reported to occur in several neurodegenerative lysosomal storage disorders including Mucopolysaccharidosis type IIIA (MPS IIIA; Sanfilippo syndrome). This disorder results from a mutation in the gene encoding the lysosomal sulphatase sulphamidase, and as a consequence heparan sulphate accumulates, accompanied by secondarily-stored gangliosides...
June 8, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28460592/anticoagulation-and-transfusions-management-in-veno-venous-extracorporeal-membrane-oxygenation-for-acute-respiratory-distress-syndrome-assessment-of-factors-associated-with-transfusion-requirements-and-mortality
#2
Gennaro Martucci, Giovanna Panarello, Giovanna Occhipinti, Veronica Ferrazza, Fabio Tuzzolino, Diego Bellavia, Filippo Sanfilippo, Cristina Santonocito, Alessandro Bertani, Patrizio Vitulo, Michele Pilato, Antonio Arcadipane
PURPOSE: We describe an approach for anticoagulation and transfusions in veno-venous-extracorporeal membrane oxygenation (VV-ECMO), evaluating factors associated with higher transfusion requirements, and their impact on mortality. METHODS: Observational study on consecutive adults supported with VV-ECMO for acute respiratory distress syndrome (ARDS). We targeted an activated partial thromboplastin time of 40 to 50 seconds and a hematocrit of 24% to 30%. Univariate and multiple analyses were done to evaluate factors associated with transfusion requirements and the influence of increasing transfusions on mortality during ECMO...
January 1, 2017: Journal of Intensive Care Medicine
https://www.readbyqxmd.com/read/28451919/a-novel-conditional-sgsh-knockout-mouse-model-recapitulates-phenotypic-and-neuropathic-deficits-of-sanfilippo-syndrome
#3
Adeline A Lau, Barbara M King, Carly L Thorsen, Sofia Hassiotis, Helen Beard, Paul J Trim, Lauren S Whyte, Sarah J Tamang, Stephen K Duplock, Marten F Snel, John J Hopwood, Kim M Hemsley
Mucopolysaccharidosis (MPS) type IIIA, or Sanfilippo syndrome, is a neurodegenerative lysosomal storage disorder caused by a deficiency of the lysosomal enzyme N-sulfoglucosamine sulfohydrolase (SGSH), involved in the catabolism of heparan sulfate. The clinical spectrum is broad and the age of symptom onset and the degree of preservation of cognitive and motor functions appears greatly influenced by genotype. To explore this further, we generated a conditional knockout (Sgsh (KO) ) mouse model with ubiquitous Sgsh deletion, and compared the clinical and pathological phenotype with that of the spontaneous Sgsh (D31N) MPS-IIIA mouse model...
April 27, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28418018/neurodevelopmental-changes-in-excitatory-synaptic-structure-and-function-in-the-cerebral-cortex-of-sanfilippo-syndrome-iiia-mice
#4
Chrissa A Dwyer, Samantha L Scudder, Ying Lin, Lara E Dozier, Dustin Phan, Nicola J Allen, Gentry N Patrick, Jeffrey D Esko
Sanfilippo syndrome, MPS IIIA-D, results from deficits in lysosomal enzymes that specifically degrade heparan sulfate, a sulfated glycosaminoglycan. The accumulation of heparan sulfate results in neurological symptoms, culminating in extensive neurodegeneration and early death. To study the impact of storage in postnatal neurodevelopment, we examined murine models of MPS IIIA, which lack the enzyme sulfamidase. We show that changes occur in excitatory postsynaptic structure and function in the somatosensory cortex prior to signs of neurodegeneration...
April 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28334745/disease-correction-by-aav-mediated-gene-therapy-in-a-new-mouse-model-of-mucopolysaccharidosis-type-iiid
#5
Carles Roca, Sandra Motas, Sara Marcó, Albert Ribera, Víctor Sánchez, Xavier Sánchez, Joan Bertolin, Xavier León, Jennifer Pérez, Miguel Garcia, Pilar Villacampa, Jesús Ruberte, Anna Pujol, Virginia Haurigot, Fatima Bosch
Gene therapy is a promising therapeutic alternative for Lysosomal Storage Disorders (LSD), as it is not necessary to correct the genetic defect in all cells of an organ to achieve therapeutically significant levels of enzyme in body fluids, from which non-transduced cells can uptake the protein correcting their enzymatic deficiency. Animal models are instrumental in the development of new treatments for LSD. Here we report the generation of the first mouse model of the LSD Muccopolysaccharidosis Type IIID (MPSIIID), also known as Sanfilippo syndrome type D...
April 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28292383/mucopolysaccharidoses-clinical-spectrum-and-frequency-of-different-types
#6
Huma Arshad Cheema, Hassan Suleman Malik, Muhammad Almas Hashmi, Zafar Fayyaz, Iqra Mushtaq, Nagina Shahzadi
OBJECTIVE: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015. METHODOLOGY: All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28228797/femoral-neck-s-fracture-in-fahr-s-syndrome-case-report
#7
Marcello Sallì, Antonio D'Arienzo, Mariella Bonanno, Salvatore Morello, Antonino Sanfilippo, Giulia Letizia Mauro, Michele D'Arienzo
Fahr's syndrome, also known as "Bilateral Striopallidodentate Calcinosis" (BSPDC) primitive, is a rare neurological disease characterized by the presence of idiopathic, bilateral, symmetrical and abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, dentate nuclei of the cerebellum, nuclei of thalamus and semi-oval center. We describe a case of a 76-year-old male patient underwent reduction and fixation of a subtrochanteric fracture with intramedullary nail...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28098417/delivery-of-anesthesia-for-children-with-mucopolysaccharidosis-type-iii-sanfilippo-syndrome-a-review-of-86-anesthetics
#8
Marc A Cohen, Grant M Stuart
BACKGROUND: Sanfilippo syndrome (MPS III) is rare, with 97 cases in the United Kingdom between 1988 and 1998. Mucopolysaccharide infiltration of tissues in mucopolysaccharidosis (MPS) causes multi-systemic pathology including difficult airways and cardiac disease. Published anesthesia case reviews of Sanfilippo syndrome have included limited numbers of patients to date. AIM: To identify the perioperative management and complications of anesthesia in children with mucopolysaccharidosis Type III at Great Ormond Street Hospital...
April 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28089344/heparan-sulfate-storage-in-the-cardiac-conduction-system-triggers-atrioventricular-block
#9
Rie Kato, Hiroaki Miyahara, Tatsuya Kawano, Atsuko Matsuzuka, Kimiko Noda, Tatsuro Izumi
OBJECTIVE: To elucidate the novel biological functions of heparan sulfate (HS) by clinic-pathologically studying a patient with paroxysmal atrioventricular (AV) block. PATIENT: A long-surviving male patient with Sanfilippo syndrome type A presented with paroxysmal AV block at age 33years. He then survived another 2.5years after the onset of paroxysmal AV block and pacemaker implantation. METHODS AND RESULTS: His cardiac histopathological examination at autopsy showed HS storage in the cardiac conduction system (CCS), especially in the atrioventricular node (AVN)-His bundle branches...
May 2017: Brain & Development
https://www.readbyqxmd.com/read/27857809/delayed-speech-hyperactivity-and-coarse-facies-does-sanfilippo-syndrome-come-to-mind
#10
Ayşe Kartal
Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27832416/slow-continuous-enzyme-replacement-via-spinal-csf-in-dogs-with-the-paediatric-onset-neurodegenerative-disease-mps-iiia
#11
Barbara King, Neil R Marshall, Sofia Hassiotis, Paul J Trim, Justin Tucker, Kathryn Hattersley, Marten F Snel, Robert D Jolly, John J Hopwood, Kim M Hemsley
Intra-cerebrospinal fluid (CSF) injection of recombinant human lysosomal enzyme is a potential treatment strategy for several neurodegenerative lysosomal storage disorders including Sanfilippo syndrome (Mucopolysaccharidosis type IIIA; MPS IIIA). Here we have utilised the MPS IIIA Huntaway dog model to compare the effectiveness of the repeated intermittent bolus injection strategy being used in the trials with an alternate approach; slow, continual infusion of replacement enzyme (recombinant human sulphamidase; rhSGSH) into the spinal CSF using a SynchroMed II® pump attached to a spinal infusion cannula...
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27827379/kl%C3%A3-ver-bucy-syndrome-associated-with-a-recessive-variant-in-hgsnat-in-two-siblings-with-mucopolysaccharidosis-type-iiic-sanfilippo-c
#12
Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim, Markus Schuelke
Klüver-Bucy syndrome (KBS) comprises a set of neurobehavioral symptoms with psychic blindness, hypersexuality, disinhibition, hyperorality, and hypermetamorphosis that were originally observed after bilateral lobectomy in Rhesus monkeys. We investigated two siblings with KBS from a consanguineous family by whole-exome sequencing and autozygosity mapping. We detected a homozygous variant in the heparan-α-glucosaminidase-N-acetyltransferase gene (HGSNAT; c.518G>A, p.(G173D), NCBI ClinVar RCV000239404.1), which segregated with the phenotype...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27733599/natural-history-of-sanfilippo-syndrome-type-c-in-boyac%C3%A3-colombia-a-neurogenetic-description
#13
Harvy Mauricio Velasco, Yasmin Sanchez, Angela Milena Martin, Luis A Umaña
Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyacá region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT The authors report an unusually high incidence of the disease in this population. The clinical features are similar to previously described patients, although some differences in the degree of severity and end-stage of the disease are seen in this specific group...
October 12, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27636868/external-genitalia-hypertrophy-in-an-adolescent-girl-with-sanfilippo-syndrome
#14
Flora Bacopoulou, Despoina Apostolaki, Roser Pons
OBJECTIVE: To report unusual gynaecological features associated with Sanfilippo syndrome, a rare progressive multisystem storage disorder. CASE: A 10-year-old adolescent girl with Sanfilippo syndrome type B, presented to the Center for Adolescent Medicine accompanied by her mother. Maternal anxiety was related to a palpable mass over the adolescent's external genitalia that had been causing her discomfort and exacerbation of her behavioural problems when wearing trousers...
October 2016: European Journal of Contraception & Reproductive Health Care
https://www.readbyqxmd.com/read/27568297/turner-syndrome-have-you-thought-about-fertility
#15
EDITORIAL
Joseph S Sanfilippo
No abstract text is available yet for this article.
October 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27489053/secondary-preventive-medication-use-in-a-prevalent-population-based-cohort-of-acute-coronary-syndrome-survivors
#16
Anthony S Gunnell, Joseph Hung, Matthew W Knuiman, Lee Nedkoff, Malcolm Gillies, Elizabeth Geelhoed, Michael S T Hobbs, Judith M Katzenellenbogen, Jamie M Rankin, Michael Ortiz, Tom G Briffa, Frank M Sanfilippo
AIM: Describe the dispensing patterns for guideline-recommended medications during 2008 in people with acute coronary syndrome (ACS) and how dispensing varies by gender and time since last ACS hospitalization. METHOD: A descriptive cohort spanning 20 years of people alive post-ACS in 2008. We extracted all ACS hospitalizations and deaths in Western Australia (1989-2008), and all person-linked Pharmaceutical Benefits Scheme claims nationally for 2008. Participants were 23 642 men and women (36...
December 2016: Cardiovascular Therapeutics
https://www.readbyqxmd.com/read/27452122/hgsnat-has-a-tata-less-promoter-with-multiple-starts-of-transcription
#17
Eva Richtrova, Lenka S Mrazova, Dita Musalkova, Ondrej Luksan, Larisa Stolnaya, Jakub Minks, Jan Lukas, Lenka Dvorakova, Milan Jirsa, Martin Hrebicek
Acetyl-CoA:α-glucosaminide N-acetyltransferase (N-acetyltransferase) is a lysosomal membrane enzyme that catalyzes a key step in the lysosomal degradation of heparan sulfate. Its deficiency causes Sanfilippo syndrome type IIIC (Mucopolysaccharidosis type IIIC, MPS IIIC). Here we characterize the promoter region of HGSNAT, the gene encoding N-acetyltransferase, which is located in the pericentromeric region of chromosome 8. We show that HGSNAT transcription is driven by a TATA-less promoter whose key elements are contained within the 1054bp region upstream of exon 1...
October 30, 2016: Gene
https://www.readbyqxmd.com/read/27340089/behavioral-deficits-and-cholinergic-pathway-abnormalities-in-male-sanfilippo-b-mice
#18
Shih-Hsin Kan, Steven Q Le, Quang D Bui, Braeden Benedict, Jesse Cushman, Mark S Sands, Patricia I Dickson
Sanfilippo B syndrome is a progressive neurological disorder caused by inability to catabolize heparan sulfate glycosaminoglycans. We studied neurobehavior in male Sanfilippo B mice and heterozygous littermate controls from 16 to 20 weeks of age. Affected mice showed reduced anxiety, with a decrease in the number of stretch-attend postures during the elevated plus maze (p=0.001) and an increased tendency to linger in the center of an open field (p=0.032). Water maze testing showed impaired spatial learning, with reduced preference for the target quadrant (p=0...
October 1, 2016: Behavioural Brain Research
https://www.readbyqxmd.com/read/27324169/the-multifacets-of-androgen-insensitivity-syndrome
#19
EDITORIAL
Joseph S Sanfilippo
No abstract text is available yet for this article.
August 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27100513/glycosaminoglycans-and-mucopolysaccharidosis-type-iii
#20
Joanna Jakobkiewicz-Banecka, Magdalena Gabig-Ciminska, Anna Kloska, Marcelina Malinowska, Ewa Piotrowska, Zyta Banecka-Majkutewicz, Bogdan Banecki, Alicja Wegrzyn, Grzegorz Wegrzyn
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-sulfatase) - causing MPS IIIA, NAGLU (coding for alpha-N-acetylglucosaminidase) - causing MPS IIIB, HGSNAT (coding for acetyl CoA alpha-glucosaminide acetyltransferase) - causing MPS IIIC), and GNS (coding for N-acetylglucosamine-6-sulfatase) - causing MPS IIID...
2016: Frontiers in Bioscience (Landmark Edition)
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