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Hurler syndrome

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https://www.readbyqxmd.com/read/29843745/novel-splice-site-idua-gene-mutation-in-tunisian-pedigrees-with-hurler-syndrome
#1
Latifa Chkioua, Hela Boudabous, Ibtissem Jaballi, Oussama Grissa, Hadhami Ben Turkia, Neji Tebib, Sandrine Laradi
BACKGROUND: The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler-Scheie syndrome and attenuated Scheie syndrome). We aim to identify the genetic variants in MPS I patients and to investigate the effect of the novel splice site mutation on splicing of IDUA- mRNA variability using bioinformatics tools. METHODS: The IDUA mutations were determined in four MPS I patients from four families from Northern Tunisia, by amplifying and sequencing each of the IDUA exons and intron-exon junctions...
May 29, 2018: Diagnostic Pathology
https://www.readbyqxmd.com/read/29791186/markedly-elevated-intracranial-pressure-treated-with-cranial-vault-expansion-instead-of-csf-shunting-in-a-child-with-hurler-scheie-syndrome-and-multiple-suture-craniosynostosis
#2
Jessica A Ching, Jared S Troy, Ernesto J Ruas, Joshua M Beckman, Gerald F Tuite
Despite a known association of mucopolysaccharidoses (MPS) and craniosynostosis, treatment of elevated intracranial pressure (ICP) in these patients is primarily cerebrospinal fluid (CSF) shunting. We present a unique case of Hurler-Scheie syndrome with multisuture craniosynostosis and elevated ICP, without ventriculomegaly, where elevated ICP was successfully treated with extensive cranial vault expansion and shunt placement was avoided. Patients with MPS should be evaluated for craniosynostosis, and calvarial vault expansion may be considered as a viable treatment alternative to CSF shunting for elevated ICP in select patients...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29752520/mucopolysaccharidoses-overview-of-neuroimaging-manifestations
#3
Manal Nicolas-Jilwan, Moeenaldeen AlSayed
The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. Each individual disorder has a wide spectrum of phenotypic variation, depending on the specific mutation, from very mild to very severe...
May 11, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29751845/beneath-the-floor-re-analysis-of-neurodevelopmental-outcomes-in-untreated-hurler-syndrome
#4
Elsa G Shapiro, Chester B Whitley, Julie B Eisengart
BACKGROUND: Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standardly treated with hematopoietic cell transplantation (HCT), which halts accumulating disease pathology and prevents early death. While norm-based data on developmental functioning in untreated children have previously demonstrated neurocognitive decline, advances in methodology for understanding the cognitive functioning of children with neurodegenerative diseases have highlighted that the previous choice of scores to report results was not ideal...
May 11, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29717432/classifying-dysmorphic-syndromes-by-using-artificial-neural-network-based-hierarchical-decision-tree
#5
Merve Erkınay Özdemir, Ziya Telatar, Osman Eroğul, Yusuf Tunca
Dysmorphic syndromes have different facial malformations. These malformations are significant to an early diagnosis of dysmorphic syndromes and contain distinctive information for face recognition. In this study we define the certain features of each syndrome by considering facial malformations and classify Fragile X, Hurler, Prader Willi, Down, Wolf Hirschhorn syndromes and healthy groups automatically. The reference points are marked on the face images and ratios between the points' distances are taken into consideration as features...
May 1, 2018: Australasian Physical & Engineering Sciences in Medicine
https://www.readbyqxmd.com/read/29705972/p-tau-and-subunit-c-mitochondrial-atp-synthase-accumulation-in-the-central-nervous-system-of-a-woman-with-hurler-scheie-syndrome-treated-with-enzyme-replacement-therapy-for-12-years
#6
Hiroshi Kobayashi, Masamichi Ariga, Yohei Sato, Masako Fujiwara, Nei Fukasawa, Takahiro Fukuda, Hiroyuki Takahashi, Masahiro Ikegami, Motomichi Kosuga, Torayuki Okuyama, Yoshikatsu Eto, Hiroyuki Ida
We report an autopsy case of a woman with mucopolysaccharidosis type I (MPS I) Hurler-Scheie syndrome who was treated with enzyme replacement therapy (ERT) for 12 years. This was the first case of MPS I treated with ERT in Japan. Pathological analysis showed no glycosaminoglycan accumulation in the liver and spleen as a result of long-term ERT, although severe aortic stenosis, diffuse intimal hyperplasia of the coronary artery, and fibrous hypertrophy of the endocardium were observed. Additionally, we detected subunit c mitochondrial ATP synthase (SCMAS) accumulation and mild tauopathy (hyperphosphorylated tau or p-tau, both 3-repeat and 4-repeat tau accumulation) in the same area of the cerebral limbic system and central gray matter of the mid brain and pons...
April 29, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29683519/children-with-mucopolysaccharidosis-risk-progressive-visual-dysfunction-despite-haematopoietic-stem-cell-transplants
#7
Kristina Teär Fahnehjelm, Monica Olsson, Enping Chen, Jürg Hengstler, Karin Naess, Jacek Winiarski
AIM: This prospective study assessed the long-term ocular and visual outcomes of children with mucopolysaccharidoses type I Hurler syndrome (MPS IH) who were treated with haematopoietic stem cell transplants (HSCT). METHODS: Clinical ophthalmological assessments were performed on eight patients at the St Erik Eye Hospital, Huddinge, Stockholm, Sweden, from 2001-2018: The median age at diagnosis and HSCT were 12.2 (range 5.0-16.4) and 16.7 (8.0-20.4) months. The last eye examination was at a median of 13...
April 23, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29657451/total-hip-arthroplasty-in-hurler-syndrome-8-years-follow-up-a-case-report-with-review-of-literature
#8
Deepak Gautam, Rajesh Malhotra
Life expectancy in Hurler syndrome is significantly improved by enzyme therapy with bone marrow transplantation. However, the deterioration of skeletal abnormalities persists. Hip dysplasia is a common presentation which may progress to significant hip arthritis requiring total hip arthroplasty at later stage. We report a long-term outcome of cementless total hip arthroplasty in a patient with Hurler syndrome who was successfully treated with bone marrow transplant.
March 2018: Journal of Orthopaedics
https://www.readbyqxmd.com/read/29517765/long-term-outcomes-of-systemic-therapies-for-hurler-syndrome-an-international-multicenter-comparison
#9
Julie B Eisengart, Kyle D Rudser, Yong Xue, Paul Orchard, Weston Miller, Troy Lund, Ans Van der Ploeg, Jean Mercer, Simon Jones, Karl Eugen Mengel, Seyfullah Gökce, Nathalie Guffon, Roberto Giugliani, Carolina F M de Souza, Elsa G Shapiro, Chester B Whitley
PurposeEarly treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate the blood-brain barrier (BBB) support recommendations that hematopoietic cell transplantation (HCT) treat the severe, neurodegenerative form (Hurler syndrome). Ethics precludes randomized comparison of ERT with HCT, but insight into this comparison is presented with an international cohort of patients with Hurler syndrome who received long-term ERT from a young age...
March 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29409846/metabolic-syndrome-and-cardiovascular-risk-factors-after-hematopoietic-cell-transplantation-in-severe-mucopolysaccharidosis-type-i-hurler-syndrome
#10
Elizabeth Braunlin, Julia Steinberger, Todd DeFor, Paul Orchard, Aaron S Kelly
Hematopoietic cell transplantation is a life-saving procedure, but one associated with increasing long-term cardiovascular risk requiring frequent long-term follow-up. This therapy has significantly lengthened survival in mucopolysaccharidosis type IH (Hurler syndrome), a disease with known coronary artery involvement. Metabolic syndrome-a constellation of central obesity, high blood pressure, low high-density lipoprotein cholesterol, elevated triglycerides, and fasting blood glucose-is associated with increased cardiovascular risk, and occurs when any 3 or more of these 5 components is present within a single individual...
February 1, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29297517/erratum-aldenhoven-m-van-den-broek-bta-wynn-rf-et-al-quality-of-life-of-hurler-syndrome-patients-after-successful-hematopoietic-stem-cell-transplantation-blood-adv-2017-1-24-2236-2242
#11
(no author information available yet)
[This corrects the article DOI: 10.1182/bloodadvances.2017011387.].
December 12, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296871/quality-of-life-of-hurler-syndrome-patients-after-successful-hematopoietic-stem-cell-transplantation
#12
Mieke Aldenhoven, Brigitte T A van den Broek, Robert F Wynn, Anne O'Meara, Paul Veys, Attilio Rovelli, Simon A Jones, Rossella Parini, Peter M van Hasselt, Marleen Renard, Victoria Bordon, Tom J de Koning, Jaap Jan Boelens
Hurler syndrome (HS) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Hematopoietic stem cell transplantation (HSCT) results in long-term survival, although with significant residual disease burden. How this residual disease affects the health-related quality of life is unknown. Therefore, we conducted a multicenter cohort study on functional and psychosocial health and compared the outcomes to normative data using the Child Health Questionnaire and Pediatric Outcomes Data Collection Instrument...
November 14, 2017: Blood Advances
https://www.readbyqxmd.com/read/29282708/p-x654r-idua-variant-among-thai-individuals-with-intermediate-mucopolysaccharidosis-type-i-and-its-residual-activity-as-demonstrated-in-cos-7-cells
#13
Lukana Ngiwsara, James R Ketudat-Cairns, Phannee Sawangareetrakul, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Jisnuson Svasti
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a rare autosomal-recessive disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal enzyme encoded by the IDUA gene. Herein, we characterized IDUA mutations underlying mucopolysaccharidosis type I intermediate form (Hurler-Scheie syndrome) and its molecular pathogenic mechanisms. METHODS: Clinical data, activity of the IDUA enzyme in leukocytes, and a mutation of the IDUA gene were analyzed. Pathogenesis associated with an IDUA mutation was further investigated by evaluating the mutant cDNA sequence, protein expression and activity in COS-7 cells...
May 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29242665/unfavourable-outcome-after-uneventful-anaesthesia-and-surgery-in-a-child-with-hurler-syndrome
#14
Renu Sinha, Kanil Ranjith Kumar, Rahul Kumar Anand, Bikash Ranjan Ray
No abstract text is available yet for this article.
October 2017: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/29200150/alder-reilly-anomaly-in-the-cerebrospinal-fluid-of-a-child-with-hurler-syndrome
#15
Ashley L Lukefahr, Maria Proytcheva
Hurler syndrome is an autosomal recessive mucopolysaccharidosis characterized by intralysosomal accumulation of glycosaminoglycan fragments, with cellular accumulation of distended lysosomes resulting in interference with normal cell function. One of the peripheral blood features of mucopolysaccharidoses is the presence of numerous, dark lilac granules within lymphocytes, monocytes, and neutrophils, also known at Alder-Reilly anomaly. Here we describe intracytoplasmic granules with haloes in mononuclear cells present in the cerebrospinal fluid of a 2-year-old boy with the diagnosis of Hurler syndrome, undergoing pretransplant evaluation for an unrelated donor cord blood stem cell transplant...
January 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29198892/rtb-lectin-mediated-delivery-of-lysosomal-%C3%AE-l-iduronidase-mitigates-disease-manifestations-systemically-including-the-central-nervous-system
#16
Li Ou, Michael J Przybilla, Brenda Koniar, Chester B Whitley
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease resulting from deficiency in the α-L-iduronidase (IDUA) hydrolase and subsequent accumulation of glycosaminoglycan (GAG). Clinically, enzyme replacement therapy (ERT) with IDUA achieves negligible neurological benefits presumably due to blood-brain-barrier (BBB) limitations. To investigate the plant lectin ricin B chain (RTB) as a novel carrier for enzyme delivery to the brain, an IDUA:RTB fusion protein (IDUAL), produced in N. benthamiana leaves, was tested in a murine model of Hurler syndrome (MPS I)...
February 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28983455/long-term-cognitive-and-somatic-outcomes-of-enzyme-replacement-therapy-in-untransplanted-hurler-syndrome
#17
Julie B Eisengart, Jeanine Jarnes, Alia Ahmed, Igor Nestrasil, Richard Ziegler, Kathleen Delaney, Elsa Shapiro, Chester Whitley
Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS I is critical to stem progressive, irreversible disease manifestations. Enzyme replacement therapy (ERT) is an approved treatment for all MPS I phenotypes, but because the severe form (MPS IH, Hurler syndrome) involves rapid neurocognitive decline, the impermeable blood-brain-barrier is considered an obstacle for ERT. Instead, hematopoietic cell transplantation (HCT) has long been recommended, as it is believed to be the only therapy that arrests neurocognitive decline...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28973713/clinical-features-of-mexican-patients-with-mucopolysaccharidosis-type-i
#18
A Alonzo-Rojo, J E García-Ortiz, M Ortiz-Aranda, M P Gallegos-Arreola, L E Figuera-Villanueva
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe (Hurler syndrome), intermediate (Hurler-Scheie syndrome), and mild (Scheie syndrome) - none of which is determined by residual enzyme activity...
September 21, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28964381/outcome-of-combined-mitral-and-aortic-valve-replacement-in-adults-with-mucopolysaccharidosis-the-hurler-syndrome
#19
Clark R Robinson, William C Roberts
We describe 2 adult sisters with type I mucopolysaccharidosis (MPS) who underwent combined mitral and aortic valve replacement for mitral and aortic valve stenosis. One died early postoperatively and the other survived but had a repeat double-valve replacement 1 month after the first. We analyzed previously reported patients with MPS and valve replacement to learn of their outcomes. The study of our 2 patients and those previously reported suggests that valve replacement in patients with MPS should be viewed with extreme caution...
December 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28892147/carpal-tunnel-syndrome-in-mucopolysaccharidosis-i-a-registry-based-cohort-study
#20
David Viskochil, Joseph Muenzer, Nathalie Guffon, Christophe Garin, M Veronica Munoz-Rojas, Kristin A Moy, Douglas T Hutchinson
AIM: To characterize carpal tunnel syndrome (CTS) in patients with mucopolysaccharidosis I (MPS I). METHOD: Data were included for patients with MPS I who had either nerve conduction examination that included a diagnosis of CTS or who had CTS release surgery. Although this represented a subset of patients with CTS in the MPS I Registry, the criteria were considered the most objective for data analysis. RESULTS: As of March 2016, 994 patients were categorized with either severe (Hurler syndrome) or attenuated (Hurler-Scheie or Scheie syndromes) MPS I...
December 2017: Developmental Medicine and Child Neurology
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