Publications by authors named "B E Glader"
Article Synopsis
- Pyruvate kinase (PK) deficiency is a rare genetic anemia linked to the PKLR gene, leading to various health issues; however, its full impact is not fully understood.* -
- The Peak Registry study analyzed 241 patients with PK deficiency, noting significant treatments like splenectomy (48.3%) and chelation therapy (50.5%), as well as common complications like iron overload and neonatal issues.* -
- Adult patients also face serious complications, such as bone health problems and pulmonary hypertension, highlighting the need for better awareness and management strategies among healthcare providers.*
Diamond Blackfan Anemia (DBA) is a rare macrocytic red blood cell aplasia that usually presents within the first year of life. The vast majority of patients carry a mutation in one of approximately 20 genes that results in ribosomal insufficiency with the most significant clinical manifestations being anemia and a predisposition to cancers. Nemo-like Kinase (NLK) is hyperactivated in the erythroid progenitors of DBA patients and inhibition of this kinase improves erythropoiesis, but how NLK contributes to the pathogenesis of the disease is unknown.
View Article and Find Full Text PDFBiallelic mutations in the gene cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). SPENCDI is characterized by the phenotypic triad of skeletal dysplasia, innate and adaptive immune dysfunction, and variable neurologic findings ranging from asymptomatic brain calcifications to severe developmental delay with spasticity. Immune dysregulation in SPENCDI is often refractory to standard immunosuppressive treatments.
View Article and Find Full Text PDFArticle Synopsis
- Pyruvate kinase deficiency is a common cause of chronic congenital non-spherocytic hemolytic anemia, affecting about 1 in 100,000 to 1 in 300,000 people, leading to serious health issues.
- The International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency were created to provide evidence-based recommendations for treating patients, developed by a global panel of 29 experts across multiple specialties.
- The guidelines cover five key areas, including diagnosis, management of complications, anemia treatment, advanced therapies, and special populations, with a total of 31 recommendations aimed at improving patient care.
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome associated with severe anemia, congenital malformations, and an increased risk of developing cancer. The chromatin-binding special AT-rich sequence-binding protein-1 (SATB1) is downregulated in megakaryocyte/erythroid progenitors (MEPs) in patients and cell models of DBA, leading to a reduction in MEP expansion. Here we demonstrate that SATB1 expression is required for the upregulation of the critical erythroid factors heat shock protein 70 (HSP70) and GATA1 which accompanies MEP differentiation.
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