Anesthetic care and perioperative complications in children with Sanfilipo Syndrome Type A

ConclusionWe found no change in the modified Cormack–Lehane intubation grades in 25 Sanfilippo syndrome type A children over the 2‐year study period.
Source: Pediatric Anesthesia - Category: Anesthesiology Authors: Tags: Research Report Source Type: research

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Publication date: Available online 19 February 2020Source: Molecular Genetics and MetabolismAuthor(s): Emil Kakkis, Deborah MarsdenAbstractAccumulations of glycosaminoglycans (GAGs) that result from deficiencies in lysosomal hydrolases are characteristic of mucopolysaccharidoses (MPS). Enzyme replacement therapies (ERTs) are now available for several MPS diseases (MPS I, MPS II, MPS IVA, MPS VI, and MPS VII) but assessment of the efficacy of treatment can be challenging because these are rare, progressive, and highly heterogeneous diseases; because some clinical manifestations may be irreversible if treatment initiation is...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
In this study we described two MPS patients with musculoskeletal complaints who were not diagnosed for a period of time. Although musculoskeletal manifestation are common in a variety of clinical conditions, their presence at low ages or co-occurrence of other manifestations (such as cardiac, respiratory, neurologic, etc.) in multiple systems should prompt evaluation of patients for MPS and other metabolic disorders. The rheumatologists' awareness on MPS should be promoted to achieve timely diagnosis and subsequent early treatment. PMID: 32036849 [PubMed - in process]
Source: Acta Medica: Hradec Kralove - Category: General Medicine Tags: Acta Medica (Hradec Kralove) Source Type: research
CONCLUSION: The abnormal cranial MRI findings of the MPS patients, including the newly identified IHOMS, may provide diagnostic clues to differentiate the type of the disease in radiological imaging. PMID: 32011835 [PubMed - as supplied by publisher]
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Shunji Tomatsu, Francyne Kubaski, Molly Stapleton, Yasuyuki Suzuki, Kenji Orii, Toshiyuki Fukao
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Shunji Tomatsu, Kazuki Sawamoto, Molly Stapleton, Carlos J. Alméciga-Díaz
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Immune response to therapeutic enzymes poses a detriment to patient safety and treatment outcome. Enzyme replacement therapy (ERT) is a standard therapeutic option for some types of mucopolysaccharidoses, including Morquio A syndrome caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency. Current protocols tolerize patients using cytotoxic immunosuppressives, which can cause adverse effects. Here we show development of tolerance in Morquio A mice via oral delivery of peptide or GALNS for 10 days prior to ERT. Our results show that using an immunodominant peptide (I10) or the complete GALNS enzyme to orally ...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Authors: Fournier E Abstract Carpal tunnel syndrome (CTS) is too common a condition not to daily interact with the practitioner, if only because of its entanglement to other pathologies, causal or chance association. The typical symptomatology, with hand paresthesia and morning pain upon waking, is related to a median nerve injury in the confined space of the carpal tunnel, more often by local inflammation and tenosynovitis of the finger flexors (repetitive activity of the hands). SCC may be secondary to situations (pregnancy) or conditions (edema, hypothyroidism…), which exaggerate the ordinary pathophysiol...
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research
Abstract Growth impairment in mucopolysaccharidoses (MPSs) is an unresolved issue as it is resistant to enzyme replacement therapy (ERT) and growth hormone therapy. C-type natriuretic peptide (CNP) is a promising agent that has growth promoting effects. Here, we investigate the effects of CNP on growth impairment of MPSs using Gusbmps-2J mice, a model for MPS type Ⅶ, with combination therapy of CNP and ERT by hydrodynamic gene delivery. Although monotherapies were not sufficient to restore short statures of treated mice, combination therapy resulted in successful restoration. The synergistic effects of CNP and E...
Source: Endocrinology - Category: Endocrinology Authors: Tags: Endocrinology Source Type: research
To evaluate the anterior chamber angle status and estimate the intraocular pressure (IOP) in patients with mucopolysaccharidoses (MPS) type I, II, IV, and VI.
Source: American Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Original Articles Source Type: research
This study analyzed 18,222 dried blood spot samples from newborns for both enzyme activity and glycosaminoglycan (GAG) concentration levels. GAG levels were measured using liquid chromatography tandem mass spectrometry. Results were compared to our previously established cutoff values for three subtypes of GAGs: dermatan sulfate (DS) and heparan sulfate (HS0S and HSNS). Samples that were high for two of the three GAGs were identified and screened a second time. Samples were also measured for iduronate-2-sulfatase and alfa-L-iduronidase activity.A total of 300 samples were above the established cutoff values for at least tw...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
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