Background: Heterozygous immunoproteasome subunit beta-type 10 (PSMB10) mutations can cause severe combined immunodeficiency (SCID) and Omenn syndrome (OS). Hematopoietic stem cell transplantation in these patients is associated with severe complications and poor immune reconstitution, often resulting in death.
Objective: To perform immunological and molecular characterization of an infant with a PSMB10 heterozygous variant.
Introduction: Bisphosphonates (BPs) are widely used for osteoporosis and cancer-induced bone diseases due to their antiresorptive properties, yet they pose risks such as medication-related osteonecrosis of the jaw (MRONJ).
Methods: We present a unique case of concurrent oral squamous cell carcinoma (SCC) and MRONJ in a 72-year-old female chronically treated with oral ibandronate for osteoporosis. Following a dental extraction, she developed a nonhealing wound in the maxilla.
: The current high standards in orthognathic surgery demand surgical solutions that are both functionally effective and aesthetically pleasing. Our approach offers one for enhanced stability, attractiveness, and nerve protection with improved accessibility in the majority of orthognathic scenarios compared to an inverted L osteotomy. A case series is presented to illustrate the application and outcomes of HSSO, an optimised approach that combines the advantages of a transoral inverted L osteotomy with specific enhancements and increased versatility, with accessibility and exposure similar to a BSSO.
View Article and Find Full Text PDFThe EBMT (European Blood and Marrow Transplantation Society) aims to connect patients, the scientific community, and other stakeholders to improve hematopoietic stem cell transplantation and cellular therapy outcomes. We performed a cross-sectional online survey to understand the perceptions regarding Patient Reported Outcomes (PROs) and Patient Active Involvement in Research (PAIR) in over 800 stakeholders (n = 813). Patients (n = 278) and health care professionals (HCPs) (n = 351) were compared.
View Article and Find Full Text PDF