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Morquio

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https://www.readbyqxmd.com/read/27928730/guided-growth-may-not-be-the-best-option-for-knee-valgus-deformity-in-adolescent-patients-with-morquio-a
#1
D Colmenares-Bonilla, M Vasconcelos-Martinez, J Guerra-Jasso, L Ocampo-Perez
INTRODUCTION: Valgus deformity in knees is a common concern in Morquio-A patients, preceding premature arthrosis and pain leading to walking disability and loss of ambulatory status. Treatment alternative is the guided growth, but this is sometimes not applied on time. Due to short height reached on these patients, not all will benefit from guided growth surgery. PURPOSE: The purpose of this study is to describe early results of physeal osteotomy for acute valgus correction in adolescent patients and those almost at height peak to achieve alignment...
December 7, 2016: Musculoskeletal Surgery
https://www.readbyqxmd.com/read/27857796/dwarf-with-dual-spinal-kyphotic-deformity-at-the-cervical-and-dorsal-spine-unassociated-with-odontoid-hypoplasia-surgical-management
#2
Guru Dutta Satyarthee, Dipanker Singh Mankotia
Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27855521/elosulfase-alfa-bmn-110-for-the-treatment-of-mucopolysaccharidosis-iva-morquio-a-syndrome
#3
Christian J Hendriksz
Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In 2014, the use of recombinant human GALNS, elosulfase alfa, was approved in the European Union, Canada, the United States, Australia, and Brazil for the treatment of Morquio A syndrome. Elosulfase alfa is administered intravenously once-weekly at a dose of 2.0 mg/kg. Areas covered: This is a review of the efficacy, safety and tolerability, pharmacokinetics and pharmacodynamics, and other outcomes of elosulfase alfa treatment of patients with Morquio A...
November 23, 2016: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/27825773/four-novel-mutations-in-the-n-acetylgalactosamine-6-sulfate-sulfatase-gene-among-egyptian-patients-with-morquio-a-disease
#4
Ekram M Fateen, Hanan Abd El Mawgoud, Noura R Eissa, Mona M Ibrahim, Mona S Aglan, Mona L Essawi
Morquio A disease (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS) encoded by the GALNS gene. This deficiency leads to a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing their accumulation within the lysosomes and consequently prominent skeletal and visceral abnormalities. Clinical evaluation and biochemical GALNS enzyme activity determination were carried out for the patients from four unrelated Egyptian families...
November 4, 2016: Gene
https://www.readbyqxmd.com/read/27789297/antibodies-that-neutralize-cellular-uptake-of-elosulfase-alfa-are-not-associated-with-reduced-efficacy-or-pharmacodynamic-effect-in-individuals-with-morquio-a-syndrome
#5
Andrew Melton, Russell Soon, Troy Tompkins, Brian Long, Becky Schweighardt, Yulan Qi, Catherine Vitelli, Anil Bagri, Celeste Decker, Charles A O'Neill, Stephen J Zoog, Lynne Jesaitis
Many enzyme replacement therapies (ERTs) for lysosomal storage disorders use the cell-surface cation-independent mannose-6 phosphate receptor (CI-M6PR) to deliver ERTs to the lysosome. However, neutralizing antibodies (NAb) may interfere with this process. We previously reported that most individuals with Morquio A who received elosulfase alfa in the phase 3 MOR-004 trial tested positive for NAbs capable of interfering with binding to CI-M6PR ectodomain in an ELISA-based assay. However, no correlation was detected between NAb occurrence and clinical efficacy or pharmacodynamics...
October 24, 2016: Journal of Immunological Methods
https://www.readbyqxmd.com/read/27774754/impact-of-elosulfase-alfa-in-patients-with-morquio-a-syndrome-who-have-limited-ambulation-an-open-label-phase-2-study
#6
Paul R Harmatz, Eugen Mengel, Tarekegn Geberhiwot, Nicole Muschol, Christian J Hendriksz, Barbara K Burton, Elisabeth Jameson, Kenneth I Berger, Andrea Jester, Marsha Treadwell, Zlatko Sisic, Celeste Decker
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test. Patients received elosulfase alfa 2.0 mg/kg/week intravenously for 48 weeks. Efficacy measures were functional dexterity, pinch/grip strength, mobility in a modified timed 25-foot walk, pain, quality of life, respiratory function, and urine keratan sulfate (KS). Safety/tolerability was also assessed...
October 24, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27761411/30-months-follow-up-of-an-early-enzyme-replacement-therapy-in-a-severe-morquio-a-patient-about-one-case
#7
J Do Cao, A Wiedemann, T Quinaux, S F Battaglia-Hsu, L Mainard, R Froissart, C Bonnemains, S Ragot, B Leheup, P Journeau, F Feillet
: Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months. Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27750150/-5ar-5a-c-pentyl-4-epi-isofagomine-a-powerful-inhibitor-of-lysosomal-%C3%AE-galactosidase-and-a-remarkable-chaperone-for-mutations-associated-with-gm1-gangliosidosis-and-morquio-disease-type-b
#8
Sophie Front, Anna Biela-Banaś, Patricie Burda, Diana Ballhausen, Katsumi Higaki, Anna Caciotti, Amelia Morrone, Julie Charollais-Thoenig, Estelle Gallienne, Stéphane Demotz, Olivier R Martin
This report is about the identification, synthesis and initial biological characterization of derivatives of 4-epi-isofagomine as pharmacological chaperones (PC) for human lysosomal β-galactosidase. The two epimers of 4-epi-isofagomine carrying a pentyl group at C-5a, namely (5aR)- and (5aS)-5a-C-pentyl-4-epi-isofagomine, were prepared by an innovative procedure involving in the key step the addition of nitrohexane to a keto-pentopyranoside. Both epimers were evaluated as inhibitors of the human β-galactosidase: the (5aR)-stereoisomer (compound 1) was found to be a very potent inhibitor of the enzyme (IC50 = 8 nM, 30× more potent than 4-epi-isofagomine at pH 7...
September 29, 2016: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/27645974/surgical-reconstruction-for-severe-tracheal-obstruction-in-morquio-a-syndrome
#9
Christian Pizarro, Ryan R Davies, Mary Theroux, Ellen A Spurrier, Lauren W Averill, Shunji Tomatsu
Progressive tracheal obstruction is commonly seen in Morquio A syndrome and can lead to life-threatening complications. Although tracheostomy can address severe upper airway obstruction, lower airway obstruction, commonly associated with a narrow thoracic inlet and vascular compression, requires an alternative approach. We describe the case of a 16-year-old patient with Morquio A syndrome whose near-fatal tracheal obstruction was relieved by timely surgical tracheal vascular reconstruction with dramatic resolution of his respiratory symptoms...
October 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27610627/heart-and-cardiovascular-involvement-in-patients-with-mucopolysaccharidosis-type-iva-morquio-a-syndrome
#10
Christoph Kampmann, Tariq Abu-Tair, Seyfullah Gökce, Christina Lampe, Jörg Reinke, Eugen Mengel, Julia B Hennermann, Christiane M Wiethoff
BACKGROUND: Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with MPS IVA and developed a possible patho-mechanism for cardiovascular deterioration during anesthesia...
2016: PloS One
https://www.readbyqxmd.com/read/27553181/impact-of-long-term-elosulfase-alfa-treatment-on-respiratory-function-in-patients-with-morquio-a-syndrome
#11
Christian J Hendriksz, Kenneth I Berger, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani, John J Mitchell, Barbara K Burton, Norberto Guelbert, Fiona Stewart, Derralynn A Hughes, Robert Matousek, Elaina Jurecki, Celeste Decker, Paul R Harmatz
OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome. METHODS: In part 1 of MOR-005, patients initially randomized to ERT in the 24-week pivotal study (MOR-004) remained on their regimen (2.0 mg/kg/week or every other week); placebo patients were re-randomized to one of the two regimens. During part 2, all patients received elosulfase alfa 2...
November 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27442409/4th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-14th-2015
#12
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The 4th meeting on rare diseases in South Eastern Europe (SEE) was held in Skopje, at the Macedonian Academy of Sciences and Arts (MASA) on the 14(th) of November 2015. The focuses were metabolic, rare brain diseases as well as the rare dysmorphic syndrome. The authors of the report are particularly keen on stating that one of the main goals of the meeting, namely to help the treatment of patients with rare disease has begun to bear fruits. The talk on an iminosugar-based pharmacological chaperone compound as a drug candidate for the treatment of GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B) was enlightening...
2015: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/27380995/long-term-endurance-and-safety-of-elosulfase-alfa-enzyme-replacement-therapy-in-patients-with-morquio-a-syndrome
#13
Christian J Hendriksz, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani, Martha L Solano Villarreal, John J Mitchell, Barbara K Burton, Norberto Guelbert, Fiona Stewart, Derralynn A Hughes, Kenneth I Berger, Peter Slasor, Robert Matousek, Elaina Jurecki, Adam J Shaywitz, Paul R Harmatz
Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks (reaching 120weeks in total from pre-treatment baseline) in an open-label, multi-center, phase III extension study. During this extension of a 24-week placebo-controlled phase III study, all patients initially received 2.0mg/kg elosulfase alfa either weekly or every other week, prior to establishment of 2.0mg/kg/week as the recommended dose, at which point all patients received weekly treatment...
September 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27378276/recombinant-human-n-acetylgalactosamine-6-sulfate-sulfatase-galns-produced-in-the-methylotrophic-yeast-pichia-pastoris
#14
Alexander Rodríguez-López, Carlos J Alméciga-Díaz, Jhonnathan Sánchez, Jefferson Moreno, Laura Beltran, Dennis Díaz, Andrea Pardo, Aura María Ramírez, Angela J Espejo-Mojica, Luisa Pimentel, Luis A Barrera
Mucopolysaccharidosis IV A (MPS IV A, Morquio A disease) is a lysosomal storage disease (LSD) produced by mutations on N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Recently an enzyme replacement therapy (ERT) for this disease was approved using a recombinant enzyme produced in CHO cells. Previously, we reported the production of an active GALNS enzyme in Escherichia coli that showed similar stability properties to that of a recombinant mammalian enzyme though it was not taken-up by culture cells. In this study, we showed the production of the human recombinant GALNS in the methylotrophic yeast Pichia pastoris GS115 (prGALNS)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27366102/role-of-elosulfase-alfa-in-mucopolysaccharidosis-iva
#15
REVIEW
Debra S Regier, Pranoot Tanpaiboon
Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease which results in a striking skeletal phenotype, but does not negatively impact the intellect of the patient. MPS IVA has a phenotypic continuum that ranges from a severe and rapidly progressing form to a slowly progressive form. The clinical diagnosis is often made in the preschool years based on abnormal bone findings on physical examination and dysplasia on radiographic imaging. Supportive care has been the mainstay in caring for patients...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27331011/atypical-presentation-of-mucopolysaccharidosis-type-iva
#16
Eric T Rush
A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age. Targeted molecular and biochemical testing were normal in this patient. Whole exome sequencing was performed and showed compound heterozygosity for previously reported pathogenic GALNS variants which were diagnostic of mucopolysaccharidosis, type IVA (Morquio A)...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27251659/corrections-of-diverse-forms-of-lower-limb-deformities-in-patients-with-mucopolysaccharidosis-type-iva-morquio-syndrome
#17
Ali Al Kaissi, Vladimir Kenis, Eugeniy Melchenko, Maher Ben Ghachem, Robert Csepan, Franz Grill, Rudolf Ganger
BACKGROUND: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS) type IV (Morquio's syndrome). However, we observed that the progressive irregularities of the epiphyses of the long bones were the most prominent skeletal pathology, causing effectively the development of diverse forms of lower limbs deformities with extreme variation in age of onset. MATERIALS AND METHODS: Ten patients (seven children and three adults) with an average age of 15 years have been enrolled in this study...
April 2016: African Journal of Paediatric Surgery: AJPS
https://www.readbyqxmd.com/read/27161890/activity-of-daily-living-for-morquio-a-syndrome
#18
Eriko Yasuda, Yasuyuki Suzuki, Tsutomu Shimada, Kazuki Sawamoto, William G Mackenzie, Mary C Theroux, Christian Pizarro, Li Xie, Freeman Miller, Tariq Rahman, Heidi H Kecskemethy, Kyoko Nagao, Thierry Morlet, Thomas H Shaffer, Yasutsugu Chinen, Hiromasa Yabe, Akemi Tanaka, Haruo Shintaku, Kenji E Orii, Koji O Orii, Robert W Mason, Adriana M Montaño, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: "Movement," "Movement with cognition," and "Cognition." Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA...
June 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27063389/synthesis-of-c-5a-substituted-derivatives-of-4-epi-isofagomine-notable-%C3%AE-galactosidase-inhibitors-and-activity-promotors-of-gm1-gangliosidosis-related-human-lysosomal-%C3%AE-galactosidase-mutant-r201c
#19
Martin Thonhofer, Patrick Weber, Andres Gonzalez Santana, Christina Tysoe, Roland Fischer, Bettina M Pabst, Eduard Paschke, Michael Schalli, Arnold E Stütz, Marion Tschernutter, Werner Windischhofer, Stephen G Withers
From an easily available partially protected analog of 1-deoxy-L-gulo-nojirimycin, by chain-branching at C-4 and suitable modification, lipophilic analogs of the powerful β-D-galactosidase inhibitor 4-epi-isofagomine have been prepared. New compounds exhibit considerably improved inhibitory activities when compared with the unsubstituted parent compound and may serve as leads toward new pharmacological chaperones for GM1-gangliosidosis and Morquio B disease.
June 24, 2016: Carbohydrate Research
https://www.readbyqxmd.com/read/26973801/enzyme-replacement-therapy-for-treating-mucopolysaccharidosis-type-iva-morquio-a-syndrome-effect-and-limitations
#20
Shunji Tomatsu, Kazuki Sawamoto, Tsutomu Shimada, Michael B Bober, Francyne Kubaski, Eriko Yasuda, Robert W Mason, Shaukat Khan, Carlos J Alméciga-Díaz, Luis A Barrera, William G Mackenzie, Tadao Orii
INTRODUCTION: Following a Phase III, randomized, double-blind, placebo (PBO)-controlled, multinational study in subjects with mucopolysaccharidosis IVA (MPS IVA), enzyme replacement therapy (ERT) of elosulfase alfa has been approved in several countries. The study was designed to evaluate safety and efficacy of elosulfase alfa in patients with MPS IVA aged 5 years and older. AREAS COVERED: Outcomes of clinical trials for MPS IVA have been described. Subjects received either 2...
November 1, 2015: Expert Opinion on Orphan Drugs
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