Suvorexant improves intractable nocturnal enuresis by altering sleep architecture.

Little is known about sleep-based approaches to the treatment of nocturnal enuresis (NE). This report is the first to describe the successful use of suvorexant, an orexin receptor antagonist, in a 12-year-old boy with intractable NE. With suvorexant, the frequency of NE gradually decreased from 14 of 14 days (100%) to 5 of 14 days (35.7%). Sleep polysomnography indicated that rapid eye movement (REM) sleep increased from 101.5 min (19.9%) before suvorexant to 122.1 min (24.9%) with suvorexant. Furthermore, N2 increased from 233 min (45.6%) to 287.5 min (58.7%) during non-REM sleep. In contrast, N3 decreased from 160 min (31.3%) to 65 min (13.3%) during non-REM sleep. Suvorexant appeared to lighten the depth of sleep and alter sleep architecture. Although the application of an insomnia medication for treating NE seems paradoxical, suvorexant reduced the frequency of NE in patients with severe intractable NE. Thus, this treatment strategy warrants further examination.

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.

A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using multiplex ligation-dependent probe amplification (MLPA) analysis, a heterozygous EYA1 gene deletion comprising at least exons 5 to 7. In her parents, we did not detect any deletion in EYA1 by MLPA, so the deletion was a de novo mutation. PCR analysis and sequencing of patient DNA revealed a heterozygous approximately 17 kb EYA1 deletion starting from the eight last bases of exon 4 and proceeding to base 1,217 of intron 7. Furthermore, in place of this deleted region was inserted a 3756-bp-long interspersed nuclear elements-1 (LINE-1, L1). Accordingly, RT-PCR showed that exons 4-7 were not present in EYA1 mRNA expressed from the mutated allele. Although there are reports of L1 element insertion occurring in various human diseases, this is the first report of a large EYA1 deletion in combination with L1 element insertion.

Three-dimensional stereotactic surface projection of brain perfusion SPECT improves diagnosis of Alzheimer's disease.

OBJECTIVES: Alzheimer's disease (AD) is diagnosed by either inspection of the brain perfusion SPECT, or three-dimensional stereotactic surface display (3D-SSP). The purpose was to compare diagnostic performances of these methods. METHODS: Sixteen nuclear medicine physicians independently interpreted 99mTc-ECD SPECT in one session and SPECT with 3D-SSP in another session without clinical information for 50 studies of AD patients and 40 studies of healthy volunteers. Probabilities of AD were reported according to a subjective scale from 0% (normal) to 100% (definite AD). Receiver operating characteristics curves were generated to calculate areas under the ROC curves (Az's) for the inspection as well as for an automated diagnosis based on a mean Z value in the bilateral posterior cingulate gyri in a 3D-SSP template. RESULTS: Mean Az for visual interpretation of SPECT alone (0.679 +/- 0.058) was significantly smaller than that for visual interpretation of both SPECT and 3D-SSP (0.778 +/- 0.060). Az for the automated diagnosis (0.883 +/- 0.037) was significantly greater than that for both modes of visual interpretation. CONCLUSIONS: 3D-SSP enhanced performance of the nuclear medicine physicians inspecting SPECT. Performance of the automated diagnosis exceeded that of the physicians inspecting SPECT with and without 3D-SSP.

Interobserver variation in diagnosis of dementia by brain perfusion SPECT.

Brain perfusion SPECT (BP-SPECT) has characteristic patterns of abnormality, enabling the differential diagnosis of dementia. The purpose of this study was to measure interobserver variations in the diagnosis of dementia using BP-SPECT. BP-SPECT images of 57 cases, 19 of Alzheimer's disease (AD), eight of multi-infarct dementia (MID), three of Pick's disease, five of other dementias, and 22 normal controls, were interpreted by ten nuclear medicine physicians with varying levels of experience. Brain MR images of the cases were then interpreted apart from SPECT. The physicians independently rated all of the diagnoses listed beforehand according to a five-point scale, with clinical information provided. Receiver-operating characteristic (ROC) curves and the area under the ROC curve (Az) were calculated. Az varied from 0.48 to 0.87. Mean Az's were significantly larger (p<0.05) in the diagnosis by SPECT than in that by MRI (0.715 and 0.629 for dementia vs. normal, 0.670 and 0.560 for AD or MID vs. normal, 0.610 and 0.416 for AD vs. normal, and 0.672 and 0.412 for AD vs. MID, respectively). Considerable interobserver variation was present in BP-SPECT interpretation. BP-SPECT may be more effective for the evaluation of dementia than MRI when the same nuclear medicine physicians interpret both images.