keyword
https://read.qxmd.com/read/37189891/mucopolysaccharidosis-type-i-in-mexico-case-based-review
#21
Consuelo Cantú-Reyna, Diana Laura Vazquez-Cantu, Héctor Cruz-Camino, Yuriria Arlette Narváez-Díaz, Óscar Flores-Caloca, Óscar González-Llano, Carolina Araiza-Lozano, René Gómez-Gutiérrez
INTRODUCTION: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease present in 1:100,000 newborns. Variants in the IDUA (alpha-L-iduronidase) gene decrease the enzyme activity for glycosaminoglycans metabolism. MPS I patients exhibit clinical manifestations that fall on the Hurler, Hurler-Scheie, and Scheie syndrome spectrum. CASE PRESENTATION: We present a male Mexican patient with respiratory exacerbations requiring recurrent hospitalizations. He showed macrocephaly, coarse facies, hepatomegaly, umbilical hernia, and dorsal kyphosis...
March 30, 2023: Children
https://read.qxmd.com/read/37127720/increased-pituitary-volumes-in-patients-with-sanfilippo-syndrome-mucopolysaccharidosis-type-3-mps-iii
#22
JOURNAL ARTICLE
Shiwei Huang, Zachary J Beatty, Alexander M Mckinney, David R Nascene
PURPOSE: To evaluate apparent pituitary gland enlargement in patients with Sanfilippo syndrome observed at our institution. METHODS: Twelve patients with Sanfilippo syndrome with brain MRI were studied. Anterior, posterior, and whole pituitary volumes were estimated using the prolate ellipsoid volume calculation method (π/6 × L × W × H). Convexity along the upper pituitary margin (Elster's grade) was also measured. These values were compared to two age- and sex-matched groups (normal controls and patients with Hurler syndrome) using one-way ANOVA followed by Tukey's post hoc analysis for multiple comparisons...
May 2, 2023: Neuroradiology
https://read.qxmd.com/read/37051252/complement-lectin-pathway-activation-is-associated-with-covid-19-disease-severity-independent-of-mbl2-genotype-subgroups
#23
JOURNAL ARTICLE
Lisa Hurler, Ágnes Szilágyi, Federica Mescia, Laura Bergamaschi, Blanka Mező, György Sinkovits, Marienn Réti, Veronika Müller, Zsolt Iványi, János Gál, László Gopcsa, Péter Reményi, Beáta Szathmáry, Botond Lakatos, János Szlávik, Ilona Bobek, Zita Z Prohászka, Zsolt Förhécz, Dorottya Csuka, Erika Kajdácsi, László Cervenak, Petra Kiszel, Tamás Masszi, István Vályi-Nagy, Reinhard Würzner, Paul A Lyons, Erik J M Toonen, Zoltán Prohászka
INTRODUCTION: While complement is a contributor to disease severity in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections, all three complement pathways might be activated by the virus. Lectin pathway activation occurs through different pattern recognition molecules, including mannan binding lectin (MBL), a protein shown to interact with SARS-CoV-2 proteins. However, the exact role of lectin pathway activation and its key pattern recognition molecule MBL in COVID-19 is still not fully understood...
2023: Frontiers in Immunology
https://read.qxmd.com/read/37012921/medium-term-outcome-of-transcatheter-aortic-valve-replacement-in-mucopolysaccharidosis-type-i-hs-hurler-scheie-syndrome
#24
Yoichi Sugiyama, Hirokazu Miyashita, Mika Laine
UNLABELLED: Mucopolysaccharidoses (MPSs) are inherited metabolic diseases characterized by the deficiency of lysosomal enzymes and the accumulation of glycosaminoglycans in various organs, including the heart. In particular, aortic valve disease causes high morbidity and mortality rates, and sometimes requires surgical aortic valve replacement (SAVR) at a young age. Although transcatheter aortic valve replacement (TAVR) for severe aortic stenosis (AS) in surgical high-risk patients is a well-established treatment, there are few reports of TAVR in MPS and medium- and long-term outcomes are not known...
April 2023: Journal of Cardiology Cases
https://read.qxmd.com/read/36901952/triamterene-functions-as-an-effective-nonsense-suppression-agent-for-mps-i-h-hurler-syndrome
#25
JOURNAL ARTICLE
Amna Siddiqui, Halil Dundar, Jyoti Sharma, Aneta Kaczmarczyk, Josh Echols, Yanying Dai, Chuanxi Richard Sun, Ming Du, Zhong Liu, Rui Zhao, Tim Wood, Shalisa Sanders, Lynn Rasmussen, James Robert Bostwick, Corinne Augelli-Szafran, Mark Suto, Steven M Rowe, David M Bedwell, Kim M Keeling
Mucopolysaccharidosis I-Hurler (MPS I-H) is caused by the loss of α-L-iduronidase, a lysosomal enzyme that degrades glycosaminoglycans. Current therapies cannot treat many MPS I-H manifestations. In this study, triamterene, an FDA-approved, antihypertensive diuretic, was found to suppress translation termination at a nonsense mutation associated with MPS I-H. Triamterene rescued enough α-L-iduronidase function to normalize glycosaminoglycan storage in cell and animal models. This new function of triamterene operates through premature termination codon (PTC) dependent mechanisms that are unaffected by epithelial sodium channel activity, the target of triamterene's diuretic function...
February 24, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/36813914/in-vivo-adenine-base-editing-corrects-newborn-murine-model-of-hurler-syndrome
#26
JOURNAL ARTICLE
Jing Su, Xiu Jin, Kaiqin She, Yi Liu, Li Song, Qinyu Zhao, Jianlu Xiao, Ruiting Li, Hongxin Deng, Fang Lu, Yang Yang
Mucopolysaccharidosis type I (MPS I) is a severe disease caused by loss-of-function mutation variants in the α-L-iduronidase (Idua) gene. In vivo genome editing represents a promising strategy to correct Idua mutations, and has the potential to permanently restore IDUA function over the lifespan of patients. Here, we used adenine base editing to directly convert A > G (TAG>TGG) in a newborn murine model harboring the Idua-W392X mutation, which recapitulates the human condition and is analogous to the highly prevalent human W402X mutation...
February 23, 2023: Mol Biomed
https://read.qxmd.com/read/36791560/virus-like-nanoparticles-as-enzyme-carriers-for-enzyme-replacement-therapy-ert
#27
JOURNAL ARTICLE
Oscar González-Davis, Maria V Villagrana-Escareño, Mario A Trujillo, Pedro Gama, Kanchan Chauhan, Rafael Vazquez-Duhalt
Enzyme replacement therapy (ERT) has been used to treat a few of the many existing diseases which are originated from the lack of, or low enzymatic activity. Exogenous enzymes are administered to contend with the enzymatic activity deficiency. Enzymatic nanoreactors based on the enzyme encapsulation inside of virus-like particles (VLPs) appear as an interesting alternative for ERT. VLPs are excellent delivery vehicles for therapeutic enzymes as they are biodegradable, uniformly organized, and porous nanostructures that transport and could protect the biocatalyst from the external environment without much affecting the bioactivity...
March 2023: Virology
https://read.qxmd.com/read/36777710/ocular-manifestations-of-hurler-scheie-syndrome-recurrence-of-host-disease-in-the-corneal-transplant
#28
Zsófia Kölkedi, Adrienne Csutak, Eszter Szalai
INTRODUCTION: Hurler-Scheie syndrome is a type of mucopolysaccharidosis I (MPS). In MPS I the decreased activity of alpha-L-iduronidase lysosomal enzyme leads to glycosaminoglycan (GAG) deposition in the intra- and extracellular matrix. Excessive amounts of GAG can accumulate in most layers of the cornea, including epithelial cells, stromal keratocytes, and endothelial cells. CASE PRESENTATION: A 25-year-old female patient suffering from Hurler-Scheie syndrome with multiple ocular manifestations is reported...
February 2023: Molecular Syndromology
https://read.qxmd.com/read/36741627/hurler-syndrome-orofacial-clinical-findings
#29
Cristina Rodrigues Barros, José Ferrão, Maria do Céu Machado, Ana Fernandes, Francisco Proença
Hurler syndrome (HS) belongs to the category of mucopolysaccharidosis (MPS), a spectrum of rare genetic disorders of the mucopolysaccharides metabolism. This syndrome is due to a defect in α-iduronidase, an enzyme responsible for the degradation of the glycosaminoglycans (GAGs) heparin and dermatan sulfate. Intra and extracellular accumulation of these non-metabolized substances may lead to multisystemic dysfunction, with severe stomatognathic involvement that may often need treatment. The aim of this article is to present the heterogeneity of orofacial and radiographic findings observed in two patients with HS with long-term follow-up, who were referred to our Stomatology department...
January 2023: Curēus
https://read.qxmd.com/read/36581456/dilated-optic-nerve-sheath-in-mucopolysaccharidosis-i-common-and-not-necessarily-high-intracranial-pressure
#30
JOURNAL ARTICLE
S Huang, T Lund, P Orchard, A Gupta, D Nascene
Hydrocephalus is one of the earliest manifestations of mucopolysaccharidosis I-Hurler syndrome, and delayed treatment of hydrocephalus can lead to neurocognitive delay or even death. Optic nerve sheath diameter has been established as a noninvasive measurement to detect elevated intracranial pressure. This study aimed to establish correlations between optic nerve sheath diameter and opening pressure. Forty-nine MR images and opening pressures in patients with mucopolysaccharidosis I-Hurler syndrome were retrospectively reviewed from 2008 to 2020...
December 29, 2022: AJNR. American Journal of Neuroradiology
https://read.qxmd.com/read/36396679/evidence-detailed-characterization-and-clinical-context-of-complement-activation-in-acute-multisystem-inflammatory-syndrome-in-children
#31
JOURNAL ARTICLE
György Sinkovits, János Schnur, Lisa Hurler, Petra Kiszel, Zita Z Prohászka, Pál Sík, Erika Kajdácsi, László Cervenak, Veronika Maráczi, Máté Dávid, Borbála Zsigmond, Éva Rimanóczy, Csaba Bereczki, Loek Willems, Erik J M Toonen, Zoltán Prohászka
Multisystem inflammatory syndrome in children (MIS-C) is a rare, life-threatening complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. MIS-C develops with high fever, marked inflammation and shock-like picture several weeks after exposure to, or mild infection with SARS-CoV-2. Deep immune profiling identified activated macrophages, neutrophils, B-plasmablasts and CD8 + T cells as key determinants of pathogenesis together with multiple inflammatory markers. The disease rapidly responds to intravenous immunoglobulin (IVIG) treatment with clear changes of immune features...
November 17, 2022: Scientific Reports
https://read.qxmd.com/read/36333985/18-year-follow-up-of-enzyme-replacement-therapy-in-two-siblings-with-attenuated-mucopolysaccharidosis-i
#32
Dorina Pjetraj, Lucia Santoro, Claudia Sgattoni, Lucia Padella, Lucia Zampini, Chiara Monachesi, Orazio Gabrielli, Carlo Catassi
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder caused by the deficiency of α-L-iduronidase and characterized by a progressive course with multisystem involvement. Clinically, MPS I is divided into two forms: (1) severe (Hurler syndrome), which presents in infancy and is characterized by rapid progressive neurological involvement; (2) attenuated (Hurler/Scheie and Scheie syndromes), which displays a slower progression and absent to mild nervous system involvement. The specific treatment for attenuated MPS I consists of enzyme-replacement therapy with laronidase (human recombinant α-L-iduronidase, Aldurazyme)...
November 5, 2022: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/36332477/effects-of-gentamicin-inducing-readthrough-premature-stop-codons-a-study-of-alpha-l-iduronidase-nonsense-variants-in-cos-7-cells
#33
JOURNAL ARTICLE
Lukana Ngiwsara, Phannee Sawangareetrakul, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Prapai Dejkhamron, Voraratt Champattanachai, James R Ketudat-Cairns, Jisnuson Svasti
Mucopolysaccharidosis type I Hurler syndrome (MPS IH) is a severe lysosomal storage disorder caused by alpha-l-iduronidase (IDUA) deficiency. Premature truncation mutations (PTC) are the most common (50%-70%) type of IDUA mutations and correlate with MPS IH. Nonsense suppression therapy is a therapeutic approach that aims to induce stop codon readthrough. The different ability of gentamicin to bind mutant mRNA in readthrough is determined by nucleotide sequence (PTC context: UGA > UAG > UAA) and inserted amino acid including the nucleotide position +4 of the PTC, as well as the mRNA secondary structure...
October 27, 2022: Biochemical and Biophysical Research Communications
https://read.qxmd.com/read/36064607/comparison-of-growth-dynamics-in-different-types-of-mps-an-attempt-to-explain-the-causes
#34
JOURNAL ARTICLE
Agnieszka Różdżyńska-Świątkowska, Anna Zielińska, Anna Tylki-Szymańska
BACKGROUND: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficient activity of enzymes responsible for the catabolism of glycosaminoglycans (GAGs), resulting in progressive damage to various tissues and organs. Affected individuals present with skeletal deformities, bone growth impairment, joint stiffness and frequently mental retardation. RESULTS: The objective of the study was to summarise over 30 years of observations of the growth dynamics in patients with different types of MPS, performed at the Children's Memorial Health Institute (CMHI, Warsaw, Poland)...
September 5, 2022: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/35893030/early-neonatal-cardiac-phenotype-in-hurler-syndrome-case-report-and-literature-review
#35
REVIEW
Nishitha R Pillai, Alia Ahmed, Todd Vanyo, Chester B Whitley
Mucopolysaccharidosis type I (MPS I) is a rare inherited lysosomal disorder caused by deficiency of the α-L-iduronidase enzyme, resulting in the progressive accumulation of glycosaminoglycans (GAGs), which interfere with the normal function of multiple tissues and organs. The clinical phenotype includes characteristic facial features, hepatosplenomegaly, dysostosis multiplex, umbilical and inguinal hernias, progressive cognitive deficits with corresponding hydrocephalus, and neuropathology. Untreated children do not survive into the second decade...
July 22, 2022: Genes
https://read.qxmd.com/read/35818796/heart-valve-disease-in-hurler-scheie-syndrome
#36
LETTER
María Del Carmen García Del Rey, Javier Castrodeza, Ángel Pinto, Maria Ángeles Espinosa Castro, Cecilia Muñoz Delgado, Francisco Fernández-Avilés
No abstract text is available yet for this article.
2022: Cardiology Journal
https://read.qxmd.com/read/35791104/mucopolysaccharidosis-a-broad-review
#37
REVIEW
Ritu Nagpal, Ram Bharos Goyal, K Priyadarshini, Seema Kashyap, Mohita Sharma, Rajesh Sinha, Namrata Sharma
Mucopolysaccharidosis (MPS) is a group of genetic disorders with seven types and 13 subgroups which are characterized by an inherent deficiency of the enzymes responsible for the degradation of glycosaminoglycans (GAGs). Defective breakdown of GAG products leads to their widespread accumulation within the lysosomes of various organs involving the eye, central nervous system, skeletal, ocular, nervous, respiratory, cardiac, and the gastrointestinal systems. Clinical spectrum varies from mild systemic and ocular abnormalities with a normal life span to severe phenotype, fatal in the first few months of life...
July 2022: Indian Journal of Ophthalmology
https://read.qxmd.com/read/35787971/a-rapid-and-non-invasive-proteomic-analysis-using-dbs-and-buccal-swab-for-multiplexed-second-tier-screening-of-pompe-disease-and-mucopolysaccharidosis-type-i
#38
JOURNAL ARTICLE
Tong Zhang, Phi Duong, Remwilyn Dayuha, Christopher J Collins, Erika Beckman, Jenny Thies, Irene Chang, Christina Lam, Angela Sun, Anna I Scott, John Thompson, Aranjeet Singh, Hamid Khaledi, Michael H Gelb, Si Houn Hahn
PURPOSE: Current newborn screening programs for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) suffer from a high false positive rate and long turnaround time for clinical follow up. This study aimed to develop a novel proteomics-based assay for rapid and accurate second-tier screening of PD and MPS I. A fast turnaround assay would enable the identification of severe cases who need immediate clinical follow up and treatment. METHODS: We developed an immunocapture coupled with mass spectrometry-based proteomics (Immuno-SRM) assay to quantify GAA and IDUA proteins in dried blood spots (DBS) and buccal swabs...
August 2022: Molecular Genetics and Metabolism
https://read.qxmd.com/read/35646708/new-indications-for-hematopoietic-stem-cell-gene-therapy-in-lysosomal-storage-disorders
#39
REVIEW
Linda Rossini, Caterina Durante, Antonio Marzollo, Alessandra Biffi
Lysosomal storage disorders (LSDs) are a heterogenous group of disorders due to genetically determined deficits of lysosomal enzymes. The specific molecular mechanism and disease phenotype depends on the type of storage material. Several disorders affect the brain resulting in severe clinical manifestations that substantially impact the expectancy and quality of life. Current treatment modalities for LSDs include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) from allogeneic healthy donors, but are available for a limited number of disorders and lack efficacy on several clinical manifestations...
2022: Frontiers in Oncology
https://read.qxmd.com/read/35619307/bone-remodeling-in-a-mps-1h-girl-after-hematopoietic-stem-cell-transplantation-along-with-enzymatic-replacement-therapy
#40
Albina Tummolo, Giacomina Brunetti, Laura Piacente, Antonio Marzollo, Alessandra Biffi, Alberto Burlina, Maria Felicia Faienza
Background Mucopolysaccharidosis-1H (Hurler syndrome, MPS-1H) is the most severe form of a lysosomal storage disorder (LSD) caused by variants in IDUA, encoding alpha-L-iduronidase (IDUA). MPS-1H is also associated with various degree of skeletal defects due to the accumulation of partially degraded glycosaminoglycans (GAGs) in the lysosomes of connective tissue cells. The efficacy of hematopoietic stem cell transplantation (HSCT) and enzymatic replacement therapy (ERT) on MPS-1H skeletal manifestations are still considered not satisfactory...
May 20, 2022: Endocrine, Metabolic & Immune Disorders Drug Targets
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