Reproducibility of 3.0 Tesla magnetic resonance spectroscopy for measuring hepatic fat content.

Purpose: To investigate reproducibility of proton magnetic resonance spectroscopy ((1)H-MRS) to measure hepatic triglyceride content (HTGC).

Materials And Methods: In 24 subjects, HTGC was evaluated using (1)H-MRS at 3.0 Tesla.

Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy.

We developed a diagnostic test based on the reverse dot-blot principle, in which five mitochondrial point mutations responsible for Leber hereditary optic neuropathy (LHON) were screened simultaneously. A series of wild-type and mutant oligonucleotides representing each mutation were covalently bound to a single nylon membrane strip. The target sites were amplified in a multiplex PCR and the products were hybridized to the membrane.

Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1).

We have analyzed a series of polymorphic markers on chromosome 16p13 in 17 families with carbohydrate-deficient glycoprotein syndrome type I (CDG1). First, linkage to the region between D16S406 and D16S500 is confirmed. The telomeric border of the candidate region is now definitively placed proximal to D16S406 by crossovers observed in 2 families.

Finger fractures in children treated with absorbable pins.

Biodegradable PDS-rods have been used for the treatment of phalangeal neck fractures to oppose the disadvantages and complications of K-wire fixation. Reduction can be maintained during fracture healing, and the surrounding joints can be mobilized early. Because of the recessed position of the rods, there is no interference with motion.