Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report.

Background: Gaucher disease (GD) is caused by a gene mutation that leads to decreased acid β-glucosidase activity [glucocerebrosidase (GCase)]. This study aimed to identify and characterise compound heterozygous mutations in in a patient with type 1 GD.

Case Summary: Here, we report a rare adult-onset type 1 GD in a 46-year-old female patient with clinical manifestations of giant spleen, thrombocytopenia, and bone pain, diagnosed by enzymatic and genetic testing.

[Clinical Features of Infection in Newly Diagnosed Patients with Myelodysplastic Syndrome and Its Correlation with Curative Effect].

Objective: To explore the characteristics of infection in patients with myelodysplastic syndromes (MDS), risk factors of serious infection, and their correlation with curative effect.

Methods: The clinical data of 92 newly diagnosed MDS patients with nosocomial infection from January 2016 to June 2020 in our hospital were retrospectively analyzed.

Results: A total of 306 courses of treatment were completed in 92 newly diagnosed MDS patients.