Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in glycosaminoglycan (s) (GAGs) metabolism. Here we present the results study of ARSB DNA analysis in MPS VI patients in the Russian Federation (RF) and other republics of Former Soviet Union. In a cohort of 68 patients (57 families) with MPS VI, a total of 28 different pathogenic alleles were found. The most prevalent nucleotide changes included c.194C>T (Ser65Phe) and c.454C>T (Arg152Trp). Five pathogenic alleles were novel, not previously reported (с.304C>G, c.533A>G, c.941T>C, c.447 456del10, С.990 1003del14). The nucleotide variant c.454C>T (Arg152Trp) was prevalent allele among Slavic Russian patients. The nucleotide variant c.194C>T (Ser65Phe) was found only in MPS VI families from the Republic of Dagestan. Based on the analysis of dry blood spots
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th Annual Meeting of the EBMT
ZUG, Switzerland
15 March, 2021 bluebird bio, Inc. (Nasdaq: BLUE) announced new data from the clinical development programme for its investigational elivaldogene autotemcel (eli-cel, Lenti-D™) gene therapy in patients with cerebral adrenoleukodystrophy (CALD), including updated results from the pivotal Phase 2/3 Starbeam study (ALD-102) and the long-term follow-up study LTF-304, as well as safety outcomes from the Phase 3 ALD-104 study. These data were presented today in an oral presentation during the Presidential Symposium at the 47
th Annual Meeting of the European Society for Blood and Marrow Transplantation (EBMT 2021), taking place virtually from March 14–17, 2021.
“The progression of CALD may occur rapidly, leading to severe neurological decline, and often death, of boys with this disease. The results presented today show that at 24 months of follow-up, 90% of patients (27/30) in our pivotal study of eli-cel (ALD-102) were ali
Parvovirus –B19 is an erythrotropic virus that selectively targets human red blood cells and their precursors.
29 In patients with SCD, this can lead to life-threatening anemia due to abrupt cessation of erythropoiesis. Features are new or worsening signs of anemia, with an acute drop in hemoglobin and reticulocytopenia in the absence of blood loss or sequestration. Urgent recognition and transfusion are necessary to prevent circulatory failure and death.
Splenic Complications
Streptococcus pneumoniae, Neisseria meningitides and
Salmonella species, leaving patients prone to life-threatening infections such as pneumonia, meningitis, osteomyelitis and sepsis. As a result, all febrile illnesses are considered medical emergencies until proven otherwise in infants and under-immunized children. Routine childhood vaccines are monitored and usually administered through primary care providers, with the addition of extended pneumococcal and meningococcal vaccines as standard of care. Th