Publications by authors named "Cordiali R"
Article Synopsis
- The case study discusses the first instance of bridge therapy for an infant with alpha-mannosidosis, who started enzyme replacement therapy (ERT) at 5 months old before undergoing hematopoietic stem cell transplantation (HSCT).
- Eight ERT infusions were given prior to HSCT and continued for 90 days post-transplant, showing promising results in slowing disease progression and reducing harmful substances in the urine and plasma.
- The report emphasizes that early diagnosis and timely treatment are crucial for effectively managing alpha-mannosidosis and improving patient outcomes.
Article Synopsis
- Alpha mannosidosis is a rare genetic disorder caused by the deficiency of the enzyme alpha mannosidase, which leads to the buildup of certain sugars in the body.
- Until recently, the main treatment option was hematopoietic stem cell transplantation, but in 2018, a new enzyme replacement therapy called velmanase alfa was approved for treating mild to moderate symptoms.
- A study on a 7-month-old patient who received velmanase alfa showed significant reductions in the levels of harmful sugars in urine and serum, suggesting the enzyme is effective in managing the disease's symptoms.
Aim: To describe the chickenpox complications in children in Italy.
Methods: Hospital discharge data from 1 January 2002 to 15 June 2006 were queried for patients less than 18 years of age in three Italian paediatric university hospitals.
Results: During the study period, 349 children (189 males, 160 females) were admitted.
A female child with peculiar facies, obesity, cleft lip and palate, growth hormone deficiency and mental retardation is described. The present case does not appear to fit any of the known syndromes.
View Article and Find Full Text PDFMucopolysaccharidosis type II (MPS II, Hunter syndrome) is a lysosomal disease caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS, EC 3.1.6.
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