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Articoli di riviste sul tema "Mucopolysaccharidosis I"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 7 febbraio 2022

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1

Patel, Prajay, Georgia Antoniou, Damian Clark, David Ketteridge e Nicole Williams. "Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis". Journal of Child Neurology 35, n. 6 (11 marzo 2020): 410–17. http://dx.doi.org/10.1177/0883073820904481.

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Mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage diseases with multisystem manifestations, including carpal tunnel syndrome (CTS). This study comprised a systematic review of literature and hospital guidelines addressing the method and frequency of screening for carpal tunnel syndrome in mucopolysaccharidosis patients and a review of carpal tunnel syndrome in patients seen in the multidisciplinary mucopolysaccharidosis clinic of a pediatric hospital, in order to develop screening recommendations. The literature reported the importance of routine carpal tunnel syndrome screening from early childhood in patients with mucopolysaccharidosis I, II, IV, and VI. Screening methods included physical examination, nerve conduction studies, electromyography, and ultrasonography. Ten of 20 mucopolysaccharidosis patients in our series underwent carpal tunnel syndrome surgery. Given the high incidence of carpal tunnel syndrome at a young age in mucopolysaccharidosis, the authors recommend performing physical examination and obtaining patient and caregiver history for carpal tunnel syndrome every 6 months from the time of mucopolysaccharidosis diagnosis, supplemented by annual nerve conduction studies in cases with poor history or equivocal examination.

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2

Kiem Hao, Tran, Nguyen Thi Diem Chi, Nguyen Thi Hong Duc e Nguyen Thi Kim Hoa. "A case study of three patients with mucopolysaccharidoses in Hue Central Hospital". SAGE Open Medical Case Reports 8 (gennaio 2020): 2050313X2093824. http://dx.doi.org/10.1177/2050313x20938245.

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Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various tissues, which interferes with cell function. We report three cases that were classified as Hurler—Mucopolysaccharidosis I, Morquio—Mucopolysaccharidosis IV A, and Maroteaux–Lamy—Mucopolysaccharidosis VI. Clinical presentations of these cases vary, depending on each type of enzyme defect. All the patients appeared healthy at birth, and symptoms appear at around 1 or 2 years. Clinical features, radiological findings, and especially enzyme assays have allowed us to establish a definitive diagnosis in these cases. These cases highlight that abnormal clinical symptoms, such as growth failure, coarse facial features, and joint problems, are key points for further investigation relating to mucopolysaccharidosis disease. However, in low- and middle-income countries, it is difficult to have a definitive diagnosis of one of the mucopolysaccharidoses due to lacking enzyme assays.

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3

Osipova, L. A., L. M. Kuzenkova, L. S. Namazova-Baranova, A. K. Gevorkyan, T. V. Podkletnova e N. D. Vashakmadze. "Sanfilippo Syndrome". Annals of the Russian academy of medical sciences 70, n. 4 (28 settembre 2015): 419–27. http://dx.doi.org/10.15690/vramn.v70.i4.1407.

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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 other forms 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. Patients with Sanfilippo syndrome may have comparatively low urinary glycosaminoglycans levels resulting in false negative urinary assay. Definitive diagnosis is made by enzyme assay on leucocytes and cultured fibroblasts. There is currently no effective treatment of mucopolysaccharidosis type III, though ongoing researches of gene, substrate reduction and intrathecal enzyme replacement therapies expect getting curative method to alter devasting damage of central nervous system in near future.

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4

Clarke, Lorne A., Patricia Dickson, N. Matthew Ellinwood e Terri L. Klein. "Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience". International Journal of Neonatal Screening 6, n. 4 (19 novembre 2020): 91. http://dx.doi.org/10.3390/ijns6040091.

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There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate remediation. The recent evaluation of a second-tier biomarker integrated into the MPS I newborn screening protocol has been demonstrated to greatly improve the precision and predictive value of newborn screening for this disorder. This commentary urges newborn screening programs to learn from these experiences and improve newborn screening for mucopolysaccharidosis I and future mucopolysaccharidoses newborn screening programs by implementation of a second-tier biomarker analyte.

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5

Keilmann, A., F. Bendel, S. Nospes, C. Lampe e A. K. Läßig. "Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses". Journal of Laryngology & Otology 130, n. 2 (17 dicembre 2015): 194–200. http://dx.doi.org/10.1017/s0022215115003357.

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AbstractObjective:This study aimed to: assess the mucosal alterations of the larynx and hypopharynx typical for mucopolysaccharidoses, in a standardised manner; compare the severity in different subtypes of mucopolysaccharidoses; and monitor the effect of an enzyme replacement therapy.Methods:A classification for mucosal alterations of the larynx and hypopharynx was developed and utilised in 55 patients with mucopolysaccharidoses. Fifteen patients who started treatment with enzyme replacement therapy were followed longitudinally.Results:The most severe alterations were seen in the posterior region of the larynx and the arytenoids, and in the region of the false vocal folds. The alterations were most severe in patients with mucopolysaccharidosis II. No clear trend was observed in the patients who received enzyme replacement therapy.Conclusion:Quantification of mucosal alterations of the hypopharynx and larynx in mucopolysaccharidoses patients can provide information about the disease's natural process and about the efficacy of enzyme replacement therapy.

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6

Vasilev, Filipp, Aitalina Sukhomyasova e Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome". International Journal of Molecular Sciences 21, n. 2 (9 gennaio 2020): 421. http://dx.doi.org/10.3390/ijms21020421.

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Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient’s skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) and two patients from Turkey. Clinical features of MPSPS patients are similar to conventional mucopolysaccharidoses (MPS). In addition to typical symptoms for conventional MPS, MPSPS patients developed other features such as congenital heart defects, renal and hematopoietic disorders. Diagnosis generally requires evidence of clinical picture similar to MPS and molecular genetic testing. Disease is very severe, prognosis is unfavorable and most of patients died at age of 10–20 months. Currently there is no specific therapy for this disease and clinical management is limited to supportive and symptomatic treatment.

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7

Chiu, Cheng-Hui. "Mucopolysaccharidosis". Tzu Chi Medical Journal 23, n. 2 (giugno 2011): 72. http://dx.doi.org/10.1016/j.tcmj.2011.04.004.

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8

Guarany, Nicole Ruas, Ana Paula Vanz, Matheus Vernet Machado Bressan Wilke, Daniele Dorneles Bender, Mariana Dumer Borges, Roberto Giugliani e Ida Vanessa Doederlein Schwartz. "Mucopolysaccharidosis". Journal of Inborn Errors of Metabolism and Screening 3 (18 febbraio 2015): 232640981561380. http://dx.doi.org/10.1177/2326409815613804.

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Anandan, Ajay Kumar, e P. Sharanya. "Mucopolysaccharidosis and Anesthetic Challenges". Indian Journal of Anesthesia and Analgesia 6, n. 5 (P-2) (2019): 1863–65. http://dx.doi.org/10.21088/ijaa.2349.8471.6519.54.

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Bassyouni, H. T. "Mucopolysaccharidosis type I: clinical and biochemical study". Eastern Mediterranean Health Journal 6, n. 2-3 (15 giugno 2000): 359–66. http://dx.doi.org/10.26719/2000.6.2-3.359.

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Of 1240 outpatients referred to the Human Genetics Clinic between 1997 and 1998, 248 [20%]had inborn errors of metabolism, 36 [14%] of which were diagnosed as mucopolysaccharidoses. Parental consanguinity was present in 82% of these patients. Deficiency of alpha-L-iduronidase [IDUA] enzyme in leukocytes and increased urinary mucopolysaccharides excretion were detected in 17 patients. The urinary spot test for glucosaminoglycans was inconclusive in 4 of the 17 cases. Results showed a correlation between the biochemical enzyme activity in leukocytes, the amount of excreted mucopolysaccharides and the subtype and course of mucopolysaccharidosis type I. We conclude that estimation of IDUA enzyme activity in leukocytes can differentiate between clinically overlapping cases of MPS I and MPS II and given the clinical manifestations of MPS I is a definitive and unequivocal method of diagnosis while the urinary spot test is inconclusive

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Wang, Ping, Carol Margolis, Gloria Lin, Elizabeth L. Buza, Scott Quick, Karthik Raj, Rachel Han e Urs Giger. "Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene". Veterinary Pathology 55, n. 2 (20 novembre 2017): 286–93. http://dx.doi.org/10.1177/0300985817732115.

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Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, corneal opacities, and increased respiratory sounds. Clinical and pathologic evaluations, urine glycosaminoglycan analyses, lysosomal enzyme assays, and ARSB sequencing were performed. The urine mucopolysaccharide spot test was strongly positive predominantly due to the accumulation of dermatan sulfate. Enzyme assays in leukocytes and tissues indicated a deficiency of arylsulfatase B (ARSB) activity. Histologic examination revealed cytoplasmic vacuoles in many tissues. Analysis of the exonic ARSB DNA sequences from the affected puppy compared to the published canine genome sequence revealed a homozygous nonsense mutation (c.295C>T) in exon 1, replacing glutamine with a premature stop codon (p.Gln99*), predicting no enzyme synthesis. A polymerase chain reaction–based restriction fragment length polymorphism test was established to assist with the clinical diagnosis and breeding of Great Danes. This genotyping test revealed that the clinically healthy parents and some other relatives of the puppy were heterozygous for the mutant allele, but all 200 clinically healthy dogs screened including 15 Great Danes were homozygous for the normal allele. This ARSB mutation is the fourth identified genetic variant causing canine mucopolysaccharidosis VI. Mucopolysaccharidosis VI is the first lysosomal storage disorder described in Great Danes but does not appear to be widespread in this breed.

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Politei, Juan, Andrea Beatriz Schenone, Cabrera Gustavo, Antacle Alejandra e Szlago Marina. "Mucopolysaccharidosis VI". Journal of Inborn Errors of Metabolism and Screening 3 (12 febbraio 2015): 232640981456713. http://dx.doi.org/10.1177/2326409814567130.

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13

Scheuerle, Angela. "Mucopolysaccharidosis misadventures". Molecular Genetics and Metabolism 114, n. 2 (febbraio 2015): S103. http://dx.doi.org/10.1016/j.ymgme.2014.12.231.

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14

Fesslová, Vlasta, Paola Corti, Giovanna Sersale, Attilio Rovelli, Pierluigi Russo, Savina Mannarino, Gianfranco Butera e Rossella Parini. "The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses". Cardiology in the Young 19, n. 2 (aprile 2009): 170–78. http://dx.doi.org/10.1017/s1047951109003576.

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AbstractObjectiveTo analyze cardiac involvement and its progression in mucopolysaccharidoses, and to assess the short term impact of new therapeutic strategies.Patients and methodsWe studied echocardiographically 57 patients with various types of mucopolysaccharidoses, specifically types I, II, III, IV and VI, with a median age at the diagnosis of cardiac involvement of 5 years, following them for a median of 4.6 years, with a range from 0.9 to 21.2 years. We used a scoring system, along with the so-called delta score, to quantify the severity of involvement at baseline and at last examination, and to chart their progression over time.ResultsCases with cardiac involvement increased from 59.6% to 87.3% at the last examination. The scores increased with age, and were significantly different according to the specific type of mucopolysaccharidosis. Involvement of the mitral valve was most common, often associated with an aortic valvar anomaly and/or left ventricular hypertrophy. Patients with the first and second types had more severe involvement than those with the third or fourth types. Patients undergoing transplantation of haematopoietic stem cells seem to stabilize after an initial worsening while, in contrast, we were unable to demonstrate an effect of enzyme replacement therapy on the progression of the cardiac disease, possibly because those receiving such treatment had a higher median age, more severe cardiac disease and shorter follow-up.ConclusionsCardiac involvement was present early in more than a half of the patients identified as having mucopolysaccharidosis, and generally progressed, being more frequent and severe in the first and second types of the disease. Longer follow-up is needed to demonstrate any significant improvement induced by new therapies.

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de Jong, J. G. N., J. J. F. Hasselman, A. A. J. van Landeghem, H. L. Vader e R. A. Wevers. "The spot test is not a reliable screening procedure for mucopolysaccharidoses". Clinical Chemistry 37, n. 4 (1 aprile 1991): 572–75. http://dx.doi.org/10.1093/clinchem/37.4.572.

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Abstract To check the reliability of the Ames MPS paper spot test, which is based on the Azure A dye, we sent a series of urine samples to three laboratories where the spot test is part of the metabolic screening for mucopolysaccharidoses. In these laboratories false-negative results ranged between 19% and 35% and false-positive results ranged between 12% and 29% of all samples submitted. In contrast, the quantitative dimethylmethylene blue test (Clin Chem 1989;35:1472-7) detected an increased glycosaminoglycan content in all urine samples from mucopolysaccharidosis patients and gave no false-positive results. In the latter procedure, glycosaminoglycan content is expressed per millimole of creatinine, and age-dependent reference values are used. We conclude that the Ames spot test and other spot tests are unreliable as a screening procedure for mucopolysaccharidoses and should not be used to screen for these diseases.

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Encarnacion, Carlos O., Dustin Hang, Michael Earing e Michael E. Mitchell. "Mucopolysaccharidoses Causing Valvular Heart Disease: Report and Review of Surgical Management". World Journal for Pediatric and Congenital Heart Surgery 11, n. 4 (19 aprile 2017): NP22—NP24. http://dx.doi.org/10.1177/2150135117690105.

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Mucopolysaccharidosis type I is a genetic disorder with impaired glycosaminoglycan degradation. Cardiac pathologic involvement in this subset of patients is predominantly valvular heart disease. Valvular heart disease seen in these patients will most likely require surgical intervention in their lifetime. Only a limited amount of reports are dedicated to the cardiac surgical management of mucopolysaccharidoses. We present the case of a 32-year-old female with Hurler-Scheie syndrome who required multiple valve replacements due to progression of valvular dysfunction and decline in the quality of life. Multidisciplinary evaluation and discussion early are crucial for quality of life optimization in this cohort of patients.

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Nagao, Kyoko, Cassidy Walter, William J. Parkes, Michael Teixido, Mary C. Theroux, Stacy Szymkowski, Thierry Morlet e Shunji Tomatsu. "Cochlear implantation in a patient with mucopolysaccharidosis IVA". SAGE Open Medical Case Reports 7 (gennaio 2019): 2050313X1987379. http://dx.doi.org/10.1177/2050313x19873791.

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Mucopolysaccharidosis IVA (OMIM 253000; also known as Morquio A syndrome) is associated with skeletal, airway, and hearing abnormalities. Cochlear implantation is an effective intervention for patients with severe-to-profound hearing loss. Patients can gain substantial improvement in auditory performance, speech perception, and their quality of life from cochlear implantation. Although severe progressive sensorineural hearing loss is a common feature of mucopolysaccharidosis IVA, no detailed description of cochlear implantation for mucopolysaccharidosis IVA has been reported. To review the effectiveness and special considerations associated with cochlear implantation in patients with mucopolysaccharidosis IVA, we here report the case of cochlear implantation in mucopolysaccharidosis IVA by a multidisciplinary team. A retrospective chart review was conducted on a 34-year-old female with mucopolysaccharidosis IVA, who received a cochlear implant. Audiometric thresholds, speech perception scores, and cochlear implant processor mapping information were reviewed during the first 12 months following cochlear implantation. The results of audiological tests indicate improved hearing thresholds as well as remarkable enhancement of speech perception skills over 12 months of cochlear implant use. Cochlear implantation improved auditory performance in a mucopolysaccharidosis IVA patient with postlingually severe-to-profound sensorineural hearing loss. The benefits of cochlear implantation could be meaningful for other Morquio patients with progressive hearing loss, although the risks of surgery and anesthesia should be carefully considered by a multidisciplinary team of experts during the cochlear implant candidacy process.

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Hashimoto, Ayako, Tadayuki Kumagai e Hiroyuki Mineta. "Hunter Syndrome Diagnosed by Otorhinolaryngologist". Case Reports in Otolaryngology 2018 (2018): 1–4. http://dx.doi.org/10.1155/2018/4252696.

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Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births. We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist. To our knowledge, this is the first study diagnosed by an otorhinolaryngologist despite the fact that otorhinolaryngological symptoms manifest at a young age in this disease. The patient was a 4-year-old boy. He underwent adenotonsillectomy. Intubation was difficult, and he had some symptoms which are reasonable as a mucopolysaccharidosis. The otorhinolaryngologist should play an integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS (mucopolysaccharidoses) disorders.

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Prabhudesai, Anushka, Santosh Kondekar, Namrata Patil e Surbhi Rathi. "A Clinical Diagnostic Dilemma in Mucopolysaccharidosis". Pediatric Education and Research 7, n. 3 (2019): 119–20. http://dx.doi.org/10.21088/per.2321.1644.7319.7.

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Millichap, J. Gordon. "Mucopolysaccharidosis: MRI Study". Pediatric Neurology Briefs 6, n. 9 (1 settembre 1992): 69. http://dx.doi.org/10.15844/pedneurbriefs-6-9-6.

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Harshanand, P., G. Anil Kumar, P. Vivek e R. Jayasree. "Mucopolysaccharidosis and Rehabilitation". Indian Journal of Physical Medicine and Rehabilitation 24, n. 2 (2013): 44–47. http://dx.doi.org/10.5005/ijopmr-24-2-44.

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Abstract Mucopolysaccharidosis is a rare lysosomal storage disorder with overall prevalence of all types is 3.53 per 100,000 live births. Exact figures are not available for Indian population. It has poor prognosis with no easy curative medical or surgical management. This case report describes two cases of mucopolysaccharidosis with type one and type four variant. These cases diagnosed and rehabilitated to increase quality of life. Early identification of such cases by clinical features, supportive investigations and rehabilitation management can help patient to improve functional independence and activities of daily living.

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Kubaski, Francyne, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo e Roberto Giugliani. "Mucopolysaccharidosis Type I". Diagnostics 10, n. 3 (16 marzo 2020): 161. http://dx.doi.org/10.3390/diagnostics10030161.

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Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is known as Hurler syndrome, the intermediate form as Hurler–Scheie, and the most attenuated form is known as Scheie syndrome. Phenotype seems to be largely influenced by genotype. Patients usually develop several somatic symptoms such as abdominal hernias, extensive dermal melanocytosis, thoracolumbar kyphosis odontoid dysplasia, arthropathy, coxa valga and genu valgum, coarse facial features, respiratory and cardiac impairment. The diagnosis is based on the quantification of α-l-iduronidase coupled with glycosaminoglycan analysis and gene sequencing. Guidelines for treatment recommend hematopoietic stem cell transplantation for young Hurler patients (usually at less than 30 months of age). Intravenous enzyme replacement is approved and is the standard of care for attenuated—Hurler–Scheie and Scheie—forms (without cognitive impairment) and for the late-diagnosed severe—Hurler—cases. Intrathecal enzyme replacement therapy is under evaluation, but it seems to be safe and effective. Other therapeutic approaches such as gene therapy, gene editing, stop codon read through, and therapy with small molecules are under development. Newborn screening is now allowing the early identification of MPS I patients, who can then be treated within their first days of life, potentially leading to a dramatic change in the disease’s progression. Supportive care is very important to improve quality of life and might include several surgeries throughout the life course.

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Fiumara, Agata. "Mucopolysaccharidosis at play?" European Journal of Human Genetics 26, n. 1 (28 novembre 2017): 34–35. http://dx.doi.org/10.1038/s41431-017-0036-8.

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Aranda, Carolina, Dirceu Solé, Carmen Mendes, Maret Rand, Sandra Kyosen, Patricia Feliciano, Marco Curiati et al. "Immunology of mucopolysaccharidosis". Molecular Genetics and Metabolism 114, n. 2 (febbraio 2015): S14. http://dx.doi.org/10.1016/j.ymgme.2014.12.012.

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JONES, MARGARET Z., JOSEPH ALROY, JOSEPH C. RUTLEDGE, JOHN W. TAYLOR, ELLSWORTH C. ALVORD, JENNIFER TOONE, DEREK APPLEGARTH et al. "Human Mucopolysaccharidosis IIID". Journal of Neuropathology and Experimental Neurology 56, n. 10 (ottobre 1997): 1158–67. http://dx.doi.org/10.1097/00005072-199710000-00010.

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JONES, MARGARET Z., JOSEPH ALROY, PHILIP J. BOYER, KEVIN T. CAVANAGH, KENT JOHNSON, DOUGLAS GAGE, JOSEPH VORRO et al. "Caprine Mucopolysaccharidosis-IIID". Journal of Neuropathology and Experimental Neurology 57, n. 2 (febbraio 1998): 148–57. http://dx.doi.org/10.1097/00005072-199802000-00006.

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Wood, Timothy C., Katie Harvey, Michael Beck, Maira Graeff Burin, Yin-Hsiu Chien, Heather J. Church, Vânia D’Almeida et al. "Diagnosing mucopolysaccharidosis IVA". Journal of Inherited Metabolic Disease 36, n. 2 (1 febbraio 2013): 293–307. http://dx.doi.org/10.1007/s10545-013-9587-1.

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Middleton, Dana M., Jonathan Y. Li, Steven D. Chen, Leonard E. White, Patricia I. Dickson, N. Matthew Ellinwood e James M. Provenzale. "Quantitative diffusion tensor imaging analysis does not distinguish pediatric canines with mucopolysaccharidosis I from control canines". Neuroradiology Journal 30, n. 5 (13 luglio 2017): 454–60. http://dx.doi.org/10.1177/1971400917718844.

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Purpose We compared fractional anisotropy and radial diffusivity measurements between pediatric canines affected with mucopolysaccharidosis I and pediatric control canines. We hypothesized that lower fractional anisotropy and higher radial diffusivity values, consistent with dysmyelination, would be present in the mucopolysaccharidosis I cohort. Methods Six canine brains, three affected with mucopolysaccharidosis I and three unaffected, were euthanized at 7 weeks and imaged using a 7T small-animal magnetic resonance imaging system. Average fractional anisotropy and radial diffusivity values were calculated for four white-matter regions based on 100 regions of interest per region per specimen. A 95% confidence interval was calculated for each mean value. Results No difference was seen in fractional anisotropy or radial diffusivity values between mucopolysaccharidosis affected and unaffected brains in any region. In particular, the 95% confidence intervals for mucopolysaccharidosis affected and unaffected canines frequently overlapped for both fractional anisotropy and radial diffusivity measurements. In addition, in some brain regions a large range of fractional anisotropy and radial diffusivity values were seen within the same cohort. Conclusion The fractional anisotropy and radial diffusivity values of white matter did not differ between pediatric mucopolysaccharidosis affected canines and pediatric control canines. Possible explanations include: (a) a lack of white matter tissue differences between mucopolysaccharidosis affected and unaffected brains at early disease stages; (b) diffusion tensor imaging does not detect any existing differences; (c) inflammatory processes such as astrogliosis produce changes that offset the decreased fractional anisotropy values and increased radial diffusivity values that are expected in dysmyelination; and (d) our sample size was insufficient to detect differences. Further studies correlating diffusion tensor imaging findings to histology are warranted.

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Alsafadi, Danyah, Aly Ezzat, Fatima Altamimi, Marwan ElBagoury, Mohammed Olfat, Mohammed Saleh, Sherif Roushdy e Yahia Aktham. "Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study". JMIR Research Protocols 10, n. 8 (31 agosto 2021): e28619. http://dx.doi.org/10.2196/28619.

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Background Since the underlying cause of idiopathic short stature can indeed be undiagnosed mucopolysaccharidosis type I, it is critical to identify patients with mucopolysaccharidosis type I among screened patients with idiopathic short stature. Objective The primary objective of this study is to determine the prevalence of mucopolysaccharidosis type I disease in a high-risk group (ie, patients with idiopathic short stature). Methods We plan to perform a multicenter, cross-sectional screening study to primarily assess the prevalence of mucopolysaccharidosis type I disease in patients with idiopathic short stature. All eligible patients will be tested after obtaining written informed consent from their parents and guardians. Eligible patients will be recruited over 18 months from specialty care centers for pediatrics and genetics. Results This protocol was approved by the Institutional Review Board of King Fahd Medical City and funded by Sanofi Genzyme Saudi Arabia. We expect to collect data from ≥800 patients, as determined by our sample size calculation. Conclusions Saudi Arabia is the largest country in the Arabian Peninsula; it has a population of more than 28 million people. To date, there are no reliable data regarding the incidence and prevalence of mucopolysaccharidosis type I in Saudi Arabia; therefore, future multicenter studies will be needed. Further, the prevalence of an attenuated form of mucopolysaccharidosis type I is largely underestimated in Saudi Arabia due to the absence of an effective newborn screening program. Therefore, the implementation of a nationwide newborn screening program is essential for the accurate estimation of the burden of mucopolysaccharidosis and the early diagnosis of patients. International Registered Report Identifier (IRRID) PRR1-10.2196/28619

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Gadepalli, Chaitanya, Karolina M. Stepien, Reena Sharma, Ana Jovanovic, Govind Tol e Andrew Bentley. "Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score". Journal of Clinical Medicine 10, n. 15 (24 luglio 2021): 3275. http://dx.doi.org/10.3390/jcm10153275.

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Abstract (sommario):

(1) Background: Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders caused by the absence of enzymes required for degradation of glycosaminoglycans (GAGs). GAGs deposition in tissues leads to progressive airway narrowing and/or tortuosity. Increased longevity of patients has posed newer problems, especially the airway. This study aims to characterise various airway abnormalities in adult MPS from a regional centre and proposes a method to quantify the severity of the airway disease. (2) Methods: Retrospective analysis by case notes review, clinical examination, endoscopy, cross-sectional imaging, 3-dimensional reconstruction, and physiological investigations were used to assess the airway abnormalities. Quantitative assessment of the airway severity was performed a validated questionnaire of 15 parameters to derive Salford Mucopolysaccharidosis Airway Score (SMAS). (3) Results: Thirty-one adult MPS patients (21M/ 9F; median 26.7 years; range 19–42 years) were reviewed. There were 9 MPS I, 12 MPS II, 2 MPS III, 5 MPS IV, 2 MPS VI, and 1 MPS VII. Airway abnormalities in each MPS type are described. Patients scoring more than 35 on SMAS had some form of airway intervention. The area under curve of 0.9 was noted at a score of 25, so SMAS more than 25 may predict a difficult airway and potential to have complications. Pearson’s correlation between SMAS and height, weight, BMI were poor (p < 0.05). (4) Conclusions: Airway abnormalities in adult MPS are varied and complex. Assessment of the airway should be holistic and include multiple parameters. An objective multidimensional score such as SMAS may help to predict and manage difficult airways warranting further investigation and validation.

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Kalinova, K., K. Georgiev e I. Mladenova. "MUCOPOLYSACHARIDOSIS II AND SURGERY /REVIEW/". Trakia Journal of Sciences 18, n. 2 (2020): 176–81. http://dx.doi.org/10.15547/tjs.2020.02.015.

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Abstract (sommario):

Patients with type mucopolysaccharidosis/MPS/ II usually undergo surgery at an early age before the diagnosed. Mucopolysaccharidosis, type II is also known as Hunter syndrome.Recurrent early surgical interventions, especially for hernia or carpal tunnel syndrome, are characteristic of these patients.

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Cingi, Cemal. "Otolaryngological findings in mucopolysaccharidosis". Journal of Medical Updates 4, n. 3 (1 dicembre 2014): 122–29. http://dx.doi.org/10.2399/jmu.2014003001.

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Lawes, Rachel. "Mucopolysaccharidosis I Patient Narratives". Clinical Therapeutics 29 (gennaio 2007): S99—S100. http://dx.doi.org/10.1016/s0149-2918(07)80466-8.

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Finlayson, Laura A. "Hunter Syndrome (Mucopolysaccharidosis II)". Pediatric Dermatology 7, n. 2 (giugno 1990): 150–52. http://dx.doi.org/10.1111/j.1525-1470.1990.tb00673.x.

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White, Klane K. "Orthopaedic surgery for mucopolysaccharidosis". Current Orthopaedic Practice 23, n. 5 (2012): 394–99. http://dx.doi.org/10.1097/bco.0b013e318269c313.

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Yogalingam, Gouri, Tom Litjens, Julie Bielicki, Allison C. Crawley, Vivienne Muller, Donald S. Anson e John J. Hopwood. "Feline Mucopolysaccharidosis Type VI". Journal of Biological Chemistry 271, n. 44 (1 novembre 1996): 27259–65. http://dx.doi.org/10.1074/jbc.271.44.27259.

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PRIMROSE, D. A. "MUCOPOLYSACCHARIDOSIS: A NEW VARIANT?" Journal of Intellectual Disability Research 16, n. 3 (28 giugno 2008): 167–72. http://dx.doi.org/10.1111/j.1365-2788.1972.tb01173.x.

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Khan, Shaukat, Carlos J. Alméciga-Díaz, Kazuki Sawamoto, William G. Mackenzie, Mary C. Theroux, Christian Pizarro, Robert W. Mason, Tadao Orii e Shunji Tomatsu. "Mucopolysaccharidosis IVA and glycosaminoglycans". Molecular Genetics and Metabolism 120, n. 1-2 (gennaio 2017): 78–95. http://dx.doi.org/10.1016/j.ymgme.2016.11.007.

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Scarpa, Maurizio, Charles Marques Lourenço e Hernán Amartino. "Epilepsy in mucopolysaccharidosis disorders". Molecular Genetics and Metabolism 122 (dicembre 2017): 55–61. http://dx.doi.org/10.1016/j.ymgme.2017.10.006.

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PROCOPIS, P. G., B. TURNER, J. T. RUXTON e D. A. BROWN. "SCREENING TESTS FOR MUCOPOLYSACCHARIDOSIS". Journal of Intellectual Disability Research 12, n. 1 (28 giugno 2008): 13–17. http://dx.doi.org/10.1111/j.1365-2788.1968.tb00237.x.

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Ponder, Katherine P., e Mark E. Haskins. "Gene therapy for mucopolysaccharidosis". Expert Opinion on Biological Therapy 7, n. 9 (29 agosto 2007): 1333–45. http://dx.doi.org/10.1517/14712598.7.9.1333.

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Shepard, Dennis, e F. Hampton Roy. "Mucopolysaccharidosis Type I Therapy". Annals Of Ophthalmology 37, n. 4 (2005): 235–36. http://dx.doi.org/10.1385/ao:37:4:235.

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43

Karl, Reiter, Schoen Carola, Ensenauer Regina, Nicolai Thomas e Rudolf M. Huber. "Tracheobronchial stents in mucopolysaccharidosis". International Journal of Pediatric Otorhinolaryngology 83 (aprile 2016): 187–92. http://dx.doi.org/10.1016/j.ijporl.2016.02.015.

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Harrison, Rebecca, Simone Schaefer, Laura Warner, Jean Mercer, Simon Jones e Iain Bruce. "Transnasal adenoidectomy in mucopolysaccharidosis". International Journal of Pediatric Otorhinolaryngology 111 (agosto 2018): 149–52. http://dx.doi.org/10.1016/j.ijporl.2018.04.028.

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45

Crostelli, Marco, Osvaldo Mazza, Massimo Mariani, Dario Mascello e Carlo Iorio. "Spine challenges in mucopolysaccharidosis". International Orthopaedics 43, n. 1 (14 settembre 2018): 159–67. http://dx.doi.org/10.1007/s00264-018-4143-0.

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46

Karageorgos, L., B. Hill, M. J. Bawden e J. J. Hopwood. "Bovine mucopolysaccharidosis type IIIB". Journal of Inherited Metabolic Disease 30, n. 3 (24 aprile 2007): 358–64. http://dx.doi.org/10.1007/s10545-007-0539-5.

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47

Simeonov, Svetlan. "Mucopolysaccharidosis II (Hunter's syndrome)". International Bulletin of Otorhinolaryngology 15, n. 2 (15 giugno 2019): 33. http://dx.doi.org/10.14748/orl.v15i2.6710.

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48

van den Eeden, Yannick N. T., Niklas Unter Ecker, Holger Kleinertz, Thorsten Gehrke e Tobias M. Ballhause. "Total Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB". Case Reports in Orthopedics 2021 (28 aprile 2021): 1–8. http://dx.doi.org/10.1155/2021/5584408.

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Abstract (sommario):

Introduction. Morquio syndrome or mucopolysaccharidosis (MPS) type IV is a rare autosomal recessive lysosomal storage disease, characterized by abnormal metabolism of glycosaminoglycans associated with specific skeletal deformities, also known as dysostosis multiplex. Case Presentation. We present the case of a 23-year-old patient with advanced osteonecrosis of the femoral head (ONFH) on both sides due to Morquio syndrome. A diagnosis of mucopolysaccharidosis type IVB was made after extensive genetic profiling. The patient had the condition for a long time. At 7 years old, the patient was treated with bilateral pelvic Salter’s osteotomy. Afterward, the patient was able to walk freely but could never take part in sports. At 22 years old, pain in the hip increased, and magnetic resonance imaging showed a bilateral femur head necrosis. Hence, the patient underwent cementless total hip arthroplasty (THA). Intraoperatively, a periprosthetic fracture occurred. Therefore, revision surgery with internal fixation was performed on the next day. Postoperatively, a weight-bearing restriction of 20 kg on the left leg was imposed for 6 weeks. The patient made a full recovery and was able to move without residual complaints. Annual orthopedic evaluation in patients treated with surgical intervention is recommended. Discussion. Orthopedic challenges for mucopolysaccharidoses and corresponding bone alterations, known as dysostosis multiplex, involving trunk and limbs with typical radiological findings have been well described. The hip is invariably involved, with dysplasia affecting the femoral neck (coxa valga), femoral epiphysis (loss of sphericity, osteonecrosis), and a flared hypoplastic iliac wing. Symptomatic therapy consists, on the one hand, of a surgical procedure and, on the other hand, a variety of supportive measures. However, the management of joint replacement in lysosomal storage diseases has not been well reported. All patients with MPS should be considered at high risk for surgical intervention requiring anesthesia because of airway and cardiac disease manifestations. In the case of a need for THA, we recommend cemented stem fixation because of the overall poor bone quality in patients with Morquio syndrome.

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Pal, Shinabi, Chandrashekhar Dey, Nilanjan Ghosh, Shabarna Roy, Kaustav Nayek e Malay Kumar Dasgupta. "Morquio disease with CNS involvement: a rare association". Journal of Nepal Paediatric Society 34, n. 2 (30 ottobre 2014): 157–59. http://dx.doi.org/10.3126/jnps.v34i2.9298.

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Abstract (sommario):

Morquio syndrome is a rare type of mucopolysaccharidosis. Our patient presented with uncontrolled seizures and gross skeletal deformity. He was suspected to be suffering from mucopolysaccharidosis based on his disease presentation but the diagnosis could be made as Morquio syndrome on the basis of the presence of keratan sulphate in the urine. DOI: http://dx.doi.org/10.3126/jnps.v34i2.9298 J Nepal Paediatr Soc 2014;34(2):157-159

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Meshram, Dr Rajkumar M., Dr S. Abhisheik, Dr Hina Agrawal e Dr Samadhan Dhakne. "Clinical Presentation of Mucopolysaccharidosis Type II (Hunter’s Syndrome)". Scholars Journal of Medical Case Reports 4, n. 6 (giugno 2016): 394–97. http://dx.doi.org/10.21276/sjmcr.2016.4.6.10.

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