Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations.

17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of chromosome 17q12. We herein report a 35-year-old Japanese patient with chromosomal 17q12 deletion syndrome identified by de novo deletion of the 1.46 Mb segment at the 17q12 band by genetic analyses. He exhibited a wide range of phenotypes, such as maturity-onset diabetes of the young (MODY) type 5, structural or functional abnormalities of the kidney, liver, and pancreas; facial dysmorphic features, electrolyte disorders; keratoconus, and acquired perforating dermatosis. This case report provides valuable resources concerning the clinical spectrum of rare 17q12 deletion syndrome.

The s-wave of the multifocal electroretinogram in cats.

PURPOSE: To characterize the s-wave of the multifocal electroretinogram (mfERG) in cats, and to determine the contribution of the inner retina to the s-wave by examining the effects of tetrodotoxin (TTX) and N-methyl D: -aspartate (NMDA) injected into the vitreous cavity. METHODS: mfERGs were recorded from 15 eyes of 15 male cats under general anesthesia. The stimulus consisted of 37 elements, and the luminance of the bright and the black elements were 200 and 4 cd/m2, respectively. The stimuli were presented in a pseudorandom binary m-sequence at six different base periods (bpds) from 13.3 to 426.7 ms. Fifty microliters of 7.0 microM TTX followed by 50 microl of 4.0 mM NMDA were injected into the vitreous cavity. RESULTS: The shape of the mfERGs in the cats resembled that in humans. The s-wave appeared on the descending limb of P1, as seen in human mfERGs, in 11 eyes, and the s-wave amplitude increased significantly as the bpd was increased. TTX and NMDA resulted in the disappearance of the s-wave at all bpds, while the amplitude of P1 remained unchanged. CONCLUSIONS: The s-wave is present in the mfERG in the cat, and its loss following injections of TTX and NMDA supports the view that the s-wave reflects the function of the ganglion cells and their axons.

Succession of bacterial and fungal communities during a traditional pot fermentation of rice vinegar assessed by PCR-mediated denaturing gradient gel electrophoresis.

Denaturing gradient gel electrophoresis (DGGE) based on small subunit rRNA gene was applied to a traditional rice vinegar fermentation process in which the conversion of rice starch into acetic acid proceeded in a pot. The fungal DGGE profile indicated that the transition from Aspergillus oryzae to Saccharomyces sp. took place at the initial stage at which alcohol production was observed. The early stage was characterized by the coexistence of Saccharomyces sp. and lactic acid bacteria. Almost all of the bacterial DGGE bands related to lactic acid bacteria were replaced by bands derived from Lactobacillus acetotolerance and Acetobacter pasteurianus at the stage at which acetic acid started to accumulate. The microbial succession, tested in three different pots, was found to be essentially identical. Among the bacteria isolated at the early stage, some species differed from those detected by DGGE. This is the first report to reveal the microbial community succession that occurs during a unique vinegar fermentation process, as determined by a culture-independent method.

Relationship between the s-wave amplitude of the multifocal electroretinogram and the retinal nerve fiber layer thickness in glaucomatous eyes.

PURPOSE: To determine whether a significant correlation exists between the amplitude of the s wave of the multifocal electroretinogram (mfERG) and the retinal nerve fiber layer thickness (RNFLT) in glaucomatous eyes. METHODS: Twenty-three eyes of 23 patients with glaucoma were studied. In all eyes, the severity of the defects in the upper visual field differed significantly from the severity of those in the lower half. Patients having visual field halves with mean deviation (MD) values lower than -5 dB were placed in group A, and patients having visual field halves with MD values greater than -5 dB were placed in group B. The mfERGs were elicited by 37 stimulus elements alternating from white to black in a pseudorandom binary m-sequence at a frequency of 9.4 Hz. The mfERGs in the upper and lower visual field halves were summed to yield upper and lower averaged waves. The GDx variable corneal compensator and optical coherence tomography were used to measure the RNFLT. RESULTS: The retinal nerve fiber layer was significantly thinner in group A than in group B. There was a significant correlation between the RNFLT and the MD values of visual field defects. The s-wave amplitude was significantly smaller in group A than in group B. The s-wave amplitude also correlated significantly with the MD and the RNFLT. CONCLUSION: The significant correlations between the s-wave amplitude and the MD, and between the s-wave amplitude and the RNFLT, indicate that the s-wave receives significant contributions from the retinal ganglion cells and their axons.