BACKGROUND AND OBJECTIVES Previous studies of X-linked Alport syndrome demonstrated that "severe" COL4A5 mutations (large deletions and rearrangements, nonsense and frame-shift mutations, and glycine substitutions in the carboxy-terminal residues) were associated with early-onset renal failure, hearing loss, and lenticonus in affected male patients. This study examined whether severe mutations ...

PURPOSE The phosphoinositide kinase, FYVE finger containing (PIKFYVE) gene has been identified as a gene responsible for fleck corneal dystrophy (FCD). The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy. METHODS Slit-lamp microscopy, corneal topography, and optical coherence tomography were performed for the clinical ...

Let p be a prime, and let n > 1 and r be integers. In this paper we study Fleck’s quotient Fp(n, r) = (−p) ∑ k≡r (mod p) (n k ) (−1) ∈ Z. We determine Fp(n, r) mod p completely by certain number-theoretic and combinatorial methods; consequently, if 2 6 n 6 p then n ∑ k=1 (−1) pn− 1 pk − 1 ) ≡ (n− 1)!Bp−np (mod p), where B0, B1, . . . are Bernoulli numbers. We also establish the Kummertype congr...

Improving the health and well-being of people with disabilities is fraught with challenges. W Aubrey Webson tells Fiona Fleck about the progress made over the last two decades.

Targeting health care has become a deliberate military strategy. How can the international community make conflict parties respect the rules of war? Jan Dirk Herbermann and Fiona Fleck report.

Countries with major public health challenges do not always base their health-care decisions on the best available scientific evidence. Charles Shey Wiysonge tells Fiona Fleck how he and his colleagues are trying to change that.