OBJECTIVES
To characterize clinical manifestations, major organ involvement, real-world treatment patterns, and factors associated with severity classification in Japanese patients with mixed connective tissue disease (MCTD), aiming to clarify its heterogeneous clinical spectrum.
METHODS
This nationwide retrospective...
S. Kubo, Yurie Kanda, Hideto Kameda et al.· Rheumatology· 0 citations
Adult-onset hypophosphatasia manifests after age 18, and is characterized by reduced tissue-nonspecific alkaline phosphatase (ALP) activity. This can lead to fractures, pseudo-fractures, osteomalacia, decreased bone density (bone loss), muscle weakness, myalgia, arthralgia, headache, dental symptoms (loss of permanent...
Kota Hyakuna, Shigeru Iwata, Taro Nishikawa et al.· Modern Rheumatology Case Rep...· 0 citations
DNA ligase IV (LIG4) is essential for DNA double-strand break (DSB) repair. Hypomorphic LIG4 variants cause LIG4 syndrome, characterized by growth disturbance, increased radiosensitivity, predisposition to malignancies, adaptive immunodeficiency and inflammatory conditions. Most of these manifestations are recapitulate...
