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Sanfilippo syndrome

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
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
Joseph S Sanfilippo
No abstract text is available yet for this article.
October 2016: Journal of Pediatric and Adolescent Gynecology
Anthony S Gunnell, Joseph Hung, Matthew W Knuiman, Lee Nedkoff, Malcolm Gillies, Elizabeth Geelhoed, Michael St 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 hospitalisation. METHOD: A descriptive cohort spanning 20 years of people alive post ACS in 2008. We extracted all ACS hospitalisations 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...
August 4, 2016: Cardiovascular Therapeutics
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
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
Joseph S Sanfilippo
No abstract text is available yet for this article.
August 2016: Journal of Pediatric and Adolescent Gynecology
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)
Vincent Puy, Pierre-Edouard Bodet, Camille Rottier, Rémi Delaunay, Cathy Gomila, Ahmed Hodroge, Liliane Rackowski, Thibaud Lefebvre, Zoubida Karim, Sandrine Vitry, Florence Gonnet, Régis Daniel, Jerome Ausseil, Chester B Whitley
No abstract text is available yet for this article.
May 2016: Molecular Genetics and Metabolism
J A Gilkes, M D Bloom, C D Heldermon
Sanfilippo syndrome type B (MPS IIIB) is a lysosomal storage disease caused by a deficiency of N-acetyl-glucosaminidase (NAGLU) activity. Since early therapeutic intervention is likely to yield the most efficacious results, we sought to determine the possible therapeutic utility of rAAV in early gene therapy based interventions. Currently, the application of recombinant adeno-associated virus (AAV) vectors is one of the most widely used gene transfer systems, and represents a promising approach in the treatment of MPS IIIB...
March 2016: Molecular Genetics and Metabolism Reports
Leanne K Winner, Helen Beard, Sofia Hassiotis, Adeline A Lau, Amanda J Luck, John J Hopwood, Kim M Hemsley
Mucopolysaccharidosis type IIIA (MPS IIIA) is predominantly a disorder of the central nervous system, caused by a deficiency of sulfamidase (SGSH) with subsequent storage of heparan sulfate-derived oligosaccharides. No widely available therapy exists, and for this reason, a mouse model has been utilized to carry out a preclinical assessment of the benefit of intraparenchymal administration of a gene vector (AAVrh10-SGSH-IRES-SUMF1) into presymptomatic MPS IIIA mice. The outcome has been assessed with time, measuring primary and secondary storage material, neuroinflammation, and intracellular inclusions, all of which appear as the disease progresses...
May 2016: Human Gene Therapy
Elif C Cingi, David S Beebe, Chester B Whitley, Kumar G Belani
BACKGROUND: Patients with mucopolysaccharidoses (MPS) are generally considered high risk for anesthesia care, owing to disease-related factors. Sanfilippo syndrome type A (MPS IIIA) is the most frequently occurring MPS. Anesthesia-specific information for MPS IIIA is not readily available in the literature. OBJECTIVES: To report post hoc analyses on anesthesia care and outcomes from a 2-year study of the natural history of patients with untreated MPS IIIA (NCT01047306)...
May 2016: Paediatric Anaesthesia
E Shapiro, K King, A Ahmed, K Rudser, R Rumsey, B Yund, K Delaney, I Nestrasil, C Whitley, M Potegal
OBJECTIVES: Our goal was to describe the neurobehavioral phenotype in mucopolysaccharidosis Type IIIB (MPS IIIB). Parents report that behavioral abnormalities are a major problem in MPS III posing serious challenges to parenting and quality-of-life for both patient and parent. Our previous research on MPS IIIA identified autistic symptoms, and a Klüver-Bucy-type syndrome as indicated by reduced startle and loss of fear associated with amygdala atrophy. We hypothesized that MPS IIIB would manifest similar attributes when assessed with the same neurobehavioral protocol...
March 1, 2016: Molecular Genetics and Metabolism Reports
L A Osipova, L M Kuzenkova, L S Namazova-Baranova, A K Gevorkyan, T V Podkletnova, N D Vashakmadze
Sanfilippo syndrome (mucopolysaccharidosis type III) is a lysosomal disorder caused by a defect in the catabolism of heparan sulfate. Mucopolysaccharidosis type III is the most common type of all mucopolysaccharidoses. The pathogenic basis of the disease consists of the storage of undegraded substrate in the central nervous system. Progressive cognitive decline resulting in dementia and behavioural abnormalities are the main clinical characteristics of Sanfilippo syndrome. Mucopolysaccharidosis type III may be misdiagnosed as otherforms of developmental delay, attention deficit/hyperactivity disorder and autistic spectrum disorders because of lack of somatic symptoms, presence of mild and atypical forms of the disease...
2015: Vestnik Rossiĭskoĭ Akademii Meditsinskikh Nauk
J A Gilkes, M D Bloom, C D Heldermon
Sanfilippo syndrome type B (mucopolysaccharidosis IIIB, MPS IIIB) is a lysosomal storage disease resulting from deficiency of N-acetyl-glucosaminidase (NAGLU) activity. To determine the possible therapeutic utility of recombinant adeno-associated virus (rAAV) in early gene therapy-based interventions, we performed a comprehensive assessment of transduction and biodistribution profiles of four central nervous system (CNS) administered rAAV serotypes, -5, -8, -9 and -rh10. To simulate optimal earliest treatment of the disease, each rAAV serotype was injected into the CNS of neonatal MPS IIIB and control animals...
March 2016: Gene Therapy
Tommaso Pellis, Filippo Sanfilippo, Giuseppe Ristagno
Patients resuscitated from cardiac arrest develop a pathophysiological state named "post-cardiac arrest syndrome." Post-resuscitation myocardial dysfunction is a common feature of this syndrome, and many patients eventually die from cardiovascular failure. Cardiogenic shock accounts for most deaths in the first 3 days, when post-resuscitation myocardial dysfunction peaks. Thus, identification and treatment of cardiovascular failure is one of the key therapeutic goals during hospitalization of post-cardiac arrest patients...
December 2015: Best Practice & Research. Clinical Anaesthesiology
Sean Ekins, Jill Wood
Starting biotech or pharmaceutical companies is traditionally thought to be based around a scientist, their technology platform or a clinical candidate spun out from another company. Between us we have taken a different approach and formed two small early stage companies after initially leveraging the perspective of a parent with a child with a life-threatening rare disease. Phoenix Nest ( ) was co-founded to work on treatments for Sanfilippo syndrome a devastating neurodegenerative lysosomal storage disorder...
April 2016: Pharmaceutical Research
Anthony O Fedele
Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, refers to one of five autosomal recessive, neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) whose symptoms are caused by the deficiency of enzymes involved exclusively in heparan sulfate degradation. The primary characteristic of MPS III is the degeneration of the central nervous system, resulting in mental retardation and hyperactivity, typically commencing during childhood. The significance of the order of events leading from heparan sulfate accumulation through to downstream changes in the levels of biomolecules within the cell and ultimately the (predominantly neuropathological) clinical symptoms is not well understood...
2015: Application of Clinical Genetics
Dennis Y Tse, Parisa Lotfi, David L Simons, Marco Sardiello, Samuel M Wu
Sanfilippo syndrome Type B or Mucopolysaccharidosis IIIB (MPS IIIB) is a neurodegenerative autosomal recessive lysosomal storage disorder in which patients suffer severe vision loss from associated retinopathy. Here we sought to study the underlying retinal functional and morphological changes associated with MPS IIIB disease progression using the established model of MPS IIIB, the B6.129S6-Naglu(tm1Efn)/J mouse line. Electroretinogram (ERG) was recorded from MPS IIIB and wild-type (WT) mice at the age of 28 and 46 weeks, and retinal tissues were subsequently collected for immunohistochemistry analysis...
November 26, 2015: Scientific Reports
Pamela J Bradshaw, Judith M Katzenellenbogen, Frank M Sanfilippo, Michael S T Hobbs, Peter L Thompson, Sandra C Thompson
BACKGROUND: Although cardiovascular disease is the major cause of premature death among Indigenous peoples in several advanced economies, no acute coronary syndrome (ACS) risk models have been validated in Indigenous populations. We tested the validity and calibration of three Global Registry of Acute Coronary Events (GRACE) scores among Aboriginal and non-Aboriginal Australians. METHODS: GRACE scores were calculated at admission or discharge using clinical data, with all-cause deaths obtained from data linkage...
2015: BMC Cardiovascular Disorders
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