Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis.

The  gene (MIM 252800) provides instructions for producing alpha-L-iduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the  gene have been found to cause Mucopolysaccharidosis type I (MPS I) (MIM 607014). This leads to the accumulation of GAGs within lysosomes causing many different organs and tissues to be dysfunctional.

Incidence, prognostic significance, and survival outcomes of primary cardiac sarcoma: An updated population-based retrospective study.

Objective: Primary cardiac sarcoma, a rare tumor with an aggressive course and imprecise prognosis, constitutes over 95% of all malignant cardiac tumors. Given the sparsely available evidence, there is a paucity of information regarding current knowledge on cardiac sarcoma. This study aimed to determine the incidence and incidence-based rates, patient characteristics, treatment modalities, and survival factors of cardiac sarcoma.