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Morquio syndrome

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https://www.readbyqxmd.com/read/29741470/markers-of-cognitive-function-in-individuals-with-metabolic-disease-morquio-syndrome-and-tyrosinemia-type-iii
#1
James Blundell, Steven Frisson, Anupam Chakrapani, Shauna Kearney, Suresh Vijay, Anita MacDonald, Paul Gissen, Chris Hendriksz, Andrew Olson
We characterized cognitive function in two metabolic diseases. MPS-IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function. MPS-IVa individuals were slower in visual search, but the display size effects were normal, and slowing was not due to long reaction times (ruling out slow item processing or distraction). Maintaining gaze in an oculomotor task was difficult. Results implicated sustained attention and task initiation or response processing...
May 2018: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/29736354/morquio-syndrome-a-case-report
#2
Kamleshun Ramphul, Stephanie G Mejias, Yogeshwaree Ramphul-Sicharam
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary complications. The cost of diagnosing and treating this condition is high, and treatment is not easily available everywhere. We present a case of Morquio syndrome seen in a seven-year-old male from Iraq with multiple skeletal deformities.
March 5, 2018: Curēus
https://www.readbyqxmd.com/read/29526614/safety-immunogenicity-and-clinical-outcomes-in-patients-with-morquio-a-syndrome-participating-in-2-sequential-open-label-studies-of-elosulfase-alfa-enzyme-replacement-therapy-mor-002-mor-100-representing-5-years-of-treatment
#3
Christian Hendriksz, Saikat Santra, Simon A Jones, Tarekegn Geberhiwot, Lynne Jesaitis, Brian Long, Yulan Qi, Sara M Hawley, Celeste Decker
Elosulfase alfa is an enzyme replacement therapy for Morquio A syndrome (mucopolysaccharidosis IVA), a multisystemic progressive lysosomal storage disorder. This report includes the primary treatment outcomes and immunogenicity profile of elosulfase alfa in patients with Morquio A syndrome from 2 sequential studies, MOR-002 (ClinicalTrials.govNCT00884949) and MOR-100 (NCT01242111), representing >5 years of clinical study data. MOR-002 was an open-label, single-arm phase 1/2 study that evaluated the pharmacokinetics, safety, immunogenicity, and preliminary efficacy of 3 sequential doses of elosulfase alfa (0...
April 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29426755/immune-modulation-in-a-patient-with-morquio-syndrome-treated-with-enzyme-replacement-therapy
#4
Angela Sun, Walaa Alshuaibi, Daniel Petroni, Suzanne Skoda-Smith, Michael J Goldberg, Susan Hale
No abstract text is available yet for this article.
February 6, 2018: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#5
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29276444/widespread-vasculopathy-in-a-patient-with-morquio-a-syndrome
#6
Adam W Powell, Michael D Taylor, T Andrew Burrow, Robert J Hopkin, Carlos E Prada, John L Jefferies
Morquio A syndrome (mucopolysaccharidosis IV type A), an autosomal recessive lysosomal storage disorder caused by a defective N -acetylgalactosamine 6-sulfatase gene, leads to lysosomal accumulation of keratan sulfate and chondroitin 6-sulfate. This accumulation affects multiple systems and causes notable cardiovascular manifestations, such as thickening of the left-sided valves, ventricular hypertrophy, and intimal stenosis of the coronary arteries. There have been few reports of vasculopathy in this population...
December 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/29275451/voice-alterations-in-patients-with-morquio-a-syndrome
#7
Krzysztof Szklanny, Ryszard Gubrynowicz, Anna Tylki-Szymańska
Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation of glycosaminoglycans (GAGs), including keratan sulfate (KS) and chondroitin-6-sulfate (CS). These compounds infiltrate and disrupt the architecture of the extracellular matrix, compromising the integrity of the connective tissue. Patients with Morquio A have also been noted for exhibiting abnormalities of the larynx and vocal tract...
February 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29248359/impact-of-long-term-elosulfase-alfa-on-activities-of-daily-living-in-patients-with-morquio-a-syndrome-in-an-open-label-multi-center-phase-3-extension-study
#8
Christian J Hendriksz, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani, John J Mitchell, Barbara K Burton, Norberto Guelbert, Fiona J Stewart, Derralynn A Hughes, Robert Matousek, Sara M Hawley, Celeste Decker, Paul R Harmatz
BACKGROUND: Long-term safety and efficacy of elosulfase alfa enzyme replacement therapy (ERT) were assessed in 173 patients with Morquio A syndrome (mucopolysaccharidosis IVA) in a 96-week, open-label, multi-center, phase 3 extension study (MOR-005) of the pivotal 24-week, placebo-controlled study (MOR-004). Changes in efficacy endpoints were evaluated over 120weeks, from MOR-004 baseline to MOR-005 week 96. We report the impact of ERT on activities of daily living (ADL) across three domains (mobility, self-care, and caregiver-assistance), as assessed by the Mucopolysaccharidosis Health Assessment Questionnaire (MPS-HAQ) after 72 and 120weeks or approximately 1 and 2years...
February 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29159073/home-infusion-with-elosulfase-alpha-vimizim-r-in-a-uk-paediatric-setting
#9
Niamh Finnigan, Jane Roberts, Jean Mercer, Simon A Jones
Enzyme replacement therapy is the only available treatment for Mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome). The treatment is lengthy and invasive involving weekly intravenous infusions of 4-5 h. This can cause significant disruption to normal family life so the provision of a safe and effective homecare service is essential. In order to deliver a safe service, robust standards must be in place; this includes appropriately trained members of homecare staff, detailed management for infusion related reactions (IRR) and appropriate venous access...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29054894/mucopolysaccharidosis-type-iva-morquio-a-a-close-differential-diagnosis-of-spondylo-epiphyseal-dysplasia
#10
Sugata Narayan Biswas, Shinjan Patra, Partha Pratim Chakraborty, Himanshu Barman
Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding with normal intelligence and can be misdiagnosed as primary skeletal disorders in clinical practice. The absence of corneal clouding with normal urinary glycosaminoglycans (GAGs) level in a proportion of patients with MPS IVA makes the correct diagnosis even more challenging for physicians...
October 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28971020/elosulfase-alfa-enzyme-replacement-therapy-attenuates-disease-progression-in-a-non-ambulatory-japanese-patient-with-morquio-a-syndrome-case-report
#11
Misako Hiramatsu, Kimitoshi Nakamura
Enzyme replacement therapy (ERT) with elosulfase alfa is the only approved therapy in Japan for patients with Morquio A syndrome, a lysosomal storage disorder inherited in an autosomal recessive fashion. The experience with ERT in severely affected, non-ambulatory patients has not been reported in previous studies. This case report describes clinical evidence for the 1-year efficacy and safety of ERT with elosulfase alfa in a severely affected, non-ambulatory, 47-year-old patient with Morquio A syndrome who needs intensive respiratory management...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28913395/simultaneous-bilateral-total-hip-arthroplasty-in-morquio-syndrome
#12
Imran Ilyas, Syed Kashif, Samar Rabbani, Husam A Alrumaih
A 16-year-old girl who had Morquio syndrome presented with severe bilateral hip pain and limited mobility because of bilateral hip osteoarthritis and fixed flexion deformities. She was wheelchair bound for the previous 6 months. Cervical spine flexion-extension views showed mild subluxation (<3 mm), and there was thoracolumbar spine kyphosis. Magnetic resonance imaging of the cervical and thoracolumbar spine showed hypoplasia of the odontoid and vertebral bodies, but no spinal cord compression. Bilateral cemented total hip arthroplasty was performed through a posterior approach under general anesthesia with fiberoptic intubation...
September 2017: Arthroplasty Today
https://www.readbyqxmd.com/read/28740834/a-second-reported-malignancy-in-a-patient-with-morquio-syndrome
#13
REVIEW
Ameer Hamza, Sidrah Khawar, Ahmad Ibrahim, Jacob Edens, Crystal Lalonde, Robert D Danforth
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.
April 2017: Autopsy & Case Reports
https://www.readbyqxmd.com/read/28710204/bio-plex-immunoassay-measuring-the-quantity-of-lysosomal-n-acetylgalactosamine-6-sulfatase-protein-in-dried-blood-spots-for-the-screening-of-mucopolysaccharidosis-iva-in-newborn-a-pilot-study
#14
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, Sung-Fa Huang, Shuan-Pei Lin
OBJECTIVE: Mucopolysaccharidosis (MPS) IVA (Morquio syndrome A) is an autosomal-recessive lysosomal storage disorder caused by the deficiency of N -acetylgalactosamine-6-sulfatase (GALNS) resulting in excessive lysosomal storage of keratan sulfate. Treatments for MPS IVA have recently become available with optimal outcomes associated with early diagnosis and treatment which can be achieved by newborn screening. DESIGN: Newborn screening programme for MPS IVA pilot study...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28689831/successful-desensitization-of-elosulfase-alfa-induced-anaphylaxis-in-a-pediatric-patient-with-morquio-syndrome
#15
Hakan Guvenir, Emine Dibek Misirlioglu, Murat Capanoglu, Betul Buyuktiryaki, Ozlem Unal, Muge Toyran, Can Naci Kocabas
No abstract text is available yet for this article.
July 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28580212/diagnosis-of-morquio-a-patients-in-mexico-how-far-are-we-from-prompt-diagnosis
#16
Douglas Colmenares-Bonilla, Nayeli Esquitin-Garduño
Mucopolysaccharidosis IV A, better known as Morquio-A syndrome, is a rare condition with severe skeletal and multiorgan involvement. Sometimes is not easy to differentiate from other skeletal dysplasias. Prior to definitive diagnosis, patients have been delayed or misdiagnosis due to lack of knowledge of local physicians about this disease. The aim of this study is to compare the age of onset of clinical manifestations, age of diagnosis, as seen by the parent or primary caregiver and compare this age with other population reports worldwide...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28535791/clinical-outcomes-in-a-subpopulation-of-adults-with-morquio-a-syndrome-results-from-a-long-term-extension-study-of-elosulfase-alfa
#17
D Hughes, R Giugliani, N Guffon, S A Jones, K E Mengel, R Parini, R Matousek, S M Hawley, A Quartel
BACKGROUND: This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evaluated in an open-label, long-term extension study of elosulfase alfa (modified per protocol [MPP], n = 32; intent-to-treat [ITT], n = 37; MOR-005; NCT01415427) were compared with the ≥18-year-old untreated population with 2-years follow-up from a Morquio A natural history study (n = 10; MorCAP; NCT00787995)...
May 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28524215/-novel-therapies-in-neurometabolic-diseases-the-importance-of-early-intervention
#18
L G Gutierrez-Solana
INTRODUCTION: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment. DEVELOPMENT: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. In recent years the use of enzyme replacement therapy has become more widely extended to treat mucopolysaccharidosis type IVA (Morquio A), mucopolysaccharidosis type VII (Sly syndrome), lysosomal acid lipase deficiency and alpha-mannosidosis...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28459776/postoperative-regression-of-retro-odontoid-pseudotumor-after-atlantoaxial-posterior-fixation-11-years-of-experience-in-patients-with-atlantoaxial-instability
#19
Jung Hyun Park, Eugene Lee, Joon Woo Lee, Yusuhn Kang, Joong Mo Ahn, Jin S Yeom, Heung Sik Kang
STUDY DESIGN: Case series study. OBJECTIVE: The aim was to investigate the incidence of retro-odontoid pseudotumor in patients with atlantoaxial instability (AAI) and evaluate pseudotumor regression after posterior fixation. SUMMARY OF BACKGROUND DATA: The incidence of retro-odontoid pseudotumor in atlantoaxial instability patients remains uncertain. Moreover, the regression of retro-odontoid pseudotumor after posterior fixation in patients with various underlying diseases needs to be further investigated...
December 1, 2017: Spine
https://www.readbyqxmd.com/read/28441951/minimal-clinically-important-difference-for-the-6-min-walk-test-literature-review-and-application-to-morquio-a-syndrome
#20
REVIEW
Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble, Kaustuv Bhattacharya
Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, and early mortality. Studies in Morquio A patients have used the 6-min walk test (6MWT) to assess functionality and endurance and to evaluate disease progression or efficacy of treatment. The objective of the present study was to review minimal clinically important differences (MCIDs) for the 6MWT reported for disease states that widely use the 6MWT to evaluate clinical benefit and to discuss the results in view of the challenges in estimating MCID for ultra-rare diseases, using the case of elosulfase alfa in Morquio A patients...
April 26, 2017: Orphanet Journal of Rare Diseases
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