Characterization of a novel deep-intronic variant in identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.

Biallelic pathogenic variants in are the cause of short-rib thoracic dysplasia type III with or without polydactyly (OMIM #613091), a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report, we review the case of a patient who was admitted to the Neonatal Intensive Care Unit (NICU) of Indiana University Health (IUH) for respiratory support after experiencing respiratory distress secondary to a small, narrow chest causing restrictive lung disease. Additional phenotypic features include postaxial polydactyly, short proximal long bones, and ambiguous genitalia were noted.

Multistep structural transition of hydrogen trititanate nanotubes into TiO2-B nanotubes: a comparison study between nanostructured and bulk materials.

H-trititanate nanotubes obtained by alkali hydrothermal treatment of TiO(2) followed by proton exchange were compared to their bulk H(2)Ti(3)O(7) counterpart with respect to their thermally induced structural transformation paths. As-synthesized and heat-treated samples were characterized by XRD, TEM/SAED, DSC and spectroscopy techniques, indicating that H(2)Ti(3)O(7) nanotubes showed the same sequence of structural transformations as their bulk counterpart obtained by conventional solid state reaction. Nanostructured H(2)Ti(3)O(7) converts into TiO(2)(B) via multistep transformation without losing its nanotubular morphology.