A neonate with spontaneous arterial limb ischemia and an aneurysm of the oval foramen: a case report

Background In this case report, we describe a very rare case of severe limb ischemia due to an arterial embolus caused by an aneurysm of the oval foramen in a term-born infant that occurred in the first few hours after birth. Case presentation A newborn male Caucasian patient presented on the maternity ward with ischemia of the right foot. Ischemia was treated with nitroglycerin spray and low-molecular-weight heparin in therapeutic dosage. An aneurysm of the oval foramen was found during postnatal echocardiography screening. This was thought to be the source of an embolus causing limb ischemia. At birth and upon follow-up, no clotting disorders were found. A large part of the right forefoot was ischemic, leading to loss of digits 1, 2, and 3. No significant loss of function was found in the first year of life. Conclusion Severe limb ischemia can be caused by an embolus arising from an aneurysm of the oval foramen and can be treated with heparin.Vascular Surger

Busulfan-fludarabine- or treosulfan-fludarabine-based myeloablative conditioning for children with thalassemia major

Significant advances in supportive care for patients with transfusion-dependent thalassemia major (TDT) have improved patients' life expectancy. However, transfusion-associated iron overload remains a significant barrier to long-term survival with good quality of life. Today, allogeneic hematopoietic stem cell transplantation (HSCT) is the current curative standard of care. Alongside selection of the best available donor, an optimized conditioning regimen is crucial to maximize outcomes for patients with TDT undergoing HSCT. The aim of this retrospective analysis was to investigate the role of busulfan-fludarabine-based and treosulfan-fludarabine-based conditioning in TDT patients undergoing HSCT. We included 772 patients registered in the European Society for Blood and Marrow Transplantation (EBMT) database who underwent first HSCT between 2010 and 2018. Four hundred ten patients received busulfan-fludarabine-based conditioning (median age 8.6 years) and 362 patients received treosulfan-fludarabine-based conditioning (median age 5.7 years). Patient outcomes were retrospectively compared by conditioning regimen. Two-year overall survival was 92.7% (95% confidence interval: 89.3-95.1%) after busulfan-fludarabine-based conditioning and 94.7% (95% confidence interval: 91.7-96.6%) after treosulfan-fludarabine-based conditioning. There was a very low incidence of second HSCT overall. The main causes of death were infections, graft-versus-host disease, and rejection. In conclusion, use of busulfan or treosulfan as the backbone of myeloablative conditioning for patients with TDT undergoing HSCT resulted in comparably high cure rates. Long-term follow-up studies are warranted to address the important issues of organ toxicities and gonadal function.Transplantation and immunomodulatio

Hematopoietic Stem Cell Transplantation for Hemoglobinopathies: Current Practice and Emerging Trends

Despite improvements in the management of thalassemia major and sickle cell disease, treatment complications are frequent and life expectancy remains diminished for these patients. Hematopoietic stem cell transplantation (HSCT) is the only curative option currently available. Existing results for HSCT in patients with hemoglobinopathy are excellent and still improving. New conditioning regimens are being used to reduce treatment-related toxicity and new donor pools accessed to increase the number of patients who can undergo HSCT.Transplantation and immunomodulatio

Hematopoietic Stem Cell Transplantation for Hemoglobinopathies: Current Practice and Emerging Trends

Despite improvements in the management of thalassemia major and sickle cell disease, treatment complications are frequent and life expectancy remains diminished for these patients. Hematopoietic stem cell transplantation (HSCT) is the only curative option currently available. Existing results for HSCT in patients with hemoglobinopathy are excellent and still improving. New conditioning regimens are being used to reduce treatment-related toxicity and new donor pools accessed to increase the number of patients who can undergo HSCT

Compliance with regular phlebotomy can reduce the long-term risk of iron overload following successful haematopoietic stem cell transplantation

Transplantation and immunomodulatio

The use of intravenous pentamidine for the prophylaxis of Pneumocystis pneumonia in pediatric patients

Transplantation and immunomodulatio

Four decades of stem cell transplantation for Fanconi anaemia in the Netherlands

Transplantation and immunomodulatio

TWO NOVEL MISSENSE MUTATIONS IN PIEZO1 IN SIX PATIENTS WITH DEHYDRATED HEREDITARY STOMATOCYTOSIS

Transplantation and immunomodulatio