المؤلفون: Margo Sheck Breilyn, Wenyue Zhang, Chunli Yu, Melissa P. Wasserstein

المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100780- (2021)

مصطلحات موضوعية: Lyso-sphingomyelin, Nieman pick disease, Acid sphingomyelinase deficiency, Biomarker, Lysosomal storage diseases, Medicine (General), R5-920, Biology (General), QH301-705.5

الوصف: Introduction: A reliable biomarker is urgently needed in the diagnosis and management of acid sphingomyelinase deficiency (ASMD, also known as Niemann Pick A, A/B, and B). Lyso-sphingomyelin (LSM) has previously been proposed as a biomarker for this disease. However, existing studies have not investigated the relationship between LSM levels and clinical subtype or severity. The purpose of this study is to address this gap in knowledge. Material and methods: We present a cross-sectional study of 28 patients with ASMD, enrolled in an ongoing natural history study at the Icahn School of Medicine at Mount Sinai and The Children's Hospital at Montefiore. Plasma LSM levels from 28 patients were analyzed, including 7 patients with the infantile neurovisceral phenotype (ASMD type A), 3 patients with chronic neurovisceral disease (ASMD type A/B) and 18 patients with chronic visceral ASMD (ASMD type B). The association between LSM levels and clinical subtype, dichotomized as infantile (type A) or chronic (type A/B and B), was analyzed using the Wilcoxon rank sum test. In secondary analysis, the association between LSM levels and clinical severity among the chronic ASMD patients was analyzed using the Kruskal-Wallis test. Results: LSM levels were elevated in all patients with ASMD when compared to a reference range of (0.04–3.8 (ng/mL)). Median LSM levels were higher in patients with infantile ASMD (386 ng/mL [314, 605]) compared to chronic ASMD (133 ng/mL [90, 209]), p

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000744; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/c2c8f9cd5ad64aa3a3603e88eb35b9de

المؤلفون: Chunli Yu, Wenyue Zhang, Melissa P. Wasserstein, Margo Sheck Breilyn

المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100780-(2021)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: medicine.medical_specialty, Medicine (General), QH301-705.5, Reference range, Disease, Gastroenterology, ASM, acid sphingomyelinase, Endocrinology, R5-920, Internal medicine, SMPD1, sphingomyelin phosphodiesterase 1, Lysosomal storage diseases, Genetics, medicine, Nieman pick disease, Clinical severity, Biology (General), Molecular Biology, Acid sphingomyelinase deficiency, business.industry, Biomarker, Response to treatment, ERT, enzyme replacement therapy, ASMD, acid sphingomyelinase deficiency, Lyso-sphingomyelin, Biomarker (medicine), Acid sphingomyelinase, business, Sphingomyelin, Natural history study, medicine.drug, Research Paper, LSM, Lyso-sphingomyelin

الوصف: Introduction A reliable biomarker is urgently needed in the diagnosis and management of acid sphingomyelinase deficiency (ASMD, also known as Niemann Pick A, A/B, and B). Lyso-sphingomyelin (LSM) has previously been proposed as a biomarker for this disease. However, existing studies have not investigated the relationship between LSM levels and clinical subtype or severity. The purpose of this study is to address this gap in knowledge. Material and methods We present a cross-sectional study of 28 patients with ASMD, enrolled in an ongoing natural history study at the Icahn School of Medicine at Mount Sinai and The Children's Hospital at Montefiore. Plasma LSM levels from 28 patients were analyzed, including 7 patients with the infantile neurovisceral phenotype (ASMD type A), 3 patients with chronic neurovisceral disease (ASMD type A/B) and 18 patients with chronic visceral ASMD (ASMD type B). The association between LSM levels and clinical subtype, dichotomized as infantile (type A) or chronic (type A/B and B), was analyzed using the Wilcoxon rank sum test. In secondary analysis, the association between LSM levels and clinical severity among the chronic ASMD patients was analyzed using the Kruskal-Wallis test. Results LSM levels were elevated in all patients with ASMD when compared to a reference range of (0.04–3.8 (ng/mL)). Median LSM levels were higher in patients with infantile ASMD (386 ng/mL [314, 605]) compared to chronic ASMD (133 ng/mL [90, 209]), p
Highlights • Lyso-sphingomyelin (LSM) has previously been proposed as a biomarker for acid sphingomyelinase deficiency (ASMD). • Existing studies have not investigated the relationship between degree of LSM elevation and clinical subtype or severity. • We present a cross-sectional study of 28 patients with ASMD enrolled in an ongoing natural history study. • LSM levels were elevated in all patients with ASMD compared to reference ranges. • Median LSM levels were higher in patients with infantile ASMD compared to chronic ASMD. • Among individuals with chronic ASMD, there was a positive association between LSM level and clinical severity.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::340f7235dbafa7f703abb63c6610eee1
http://www.sciencedirect.com/science/article/pii/S2214426921000744

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