Frank Ter Haar syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular, and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous parents, with a novel mutation in the SH3PXD2B gene on chromosome 5q35.1 that results in premature truncation of the protein encoded.
View Article and Find Full Text PDFBackground: The objective of this study was to fabricate, characterize and evaluate in vitro, an injectable calcium sulfate bone cement beads loaded with an antibiotic nanoformulation, capable of delivering antibiotic locally for the treatment of periodontal disease.
Methods: Tetracycline nanoparticles (Tet NPs) were prepared using an ionic gelation method and characterized using DLS, SEM, and FTIR to determine size, morphology, stability and chemical interaction of the drug with the polymer. Further, calcium sulfate (CaSO4) control and CaSO4-Tet NP composite beads were prepared and characterized using SEM, FTIR and XRD.
Disseminated fungal infections are a major cause of mortality in severely immunocompromised bone marrow transplant (BMT) patients. Scopulariopsis is a soil saprophytic mould that is typically associated with onychomycosis and only rarely associated with disseminated infection with cutaneous findings. We describe a case of fatal disseminated Scopulariopsis infection in a 56-year-old neutropenic male with chronic myelogenous leukemia status post peripheral blood stem cell transplant that was clinically and histologically indistinguishable from disseminated Aspergillus, Fusarium or zygomycosis infection.
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