Prenatal diagnosis of infantile hypophosphatasia.

Prenatal diagnosis was attempted in a pregnant Japanese woman whose son had died of infantile hypophosphatasia, using chorionic villi sampled at 10 weeks of gestation. Southern blot analysis of restriction fragment length polymorphism was used as a guide, with cDNA for the human liver-type alkaline phosphatase as a probe, and BclI as a restriction enzyme. The fetus was found to be a heterozygote; the pregnancy was allowed to continue; and the baby born was phenotypically normal.     

Japanese radiological report creation with continuous speech recognition

Ten Japanese radiological reports consisting of 1381 characters (681 words) were created by two board-certified radiologists who used conventional typing and a continuous speech-recognition system called AmiVoice (Advanced Media, Inc., Tokyo, Japan). The two radiologists had not had any special training prior to their use of the continuous speech-recognition system. The model of speech-to-text analysis was generated from 22,589 radiological reports (5.7 MB). Dedicated pronunciations for loan words (i.e., English words) were registered by a board-certified radiologist in consideration of variations in Japanese pronunciation. Misrecognition occurred in 40 of 1362 words, corresponding to a 97.1% rate of accuracy of recognition. The average speech recognition time per report was 31.3 sec, and the additional time required for corrections was 25.0 sec. The total speech input time of 56.2 sec was much less than the conventional input time of 142.8 sec for typing. Continuous speech recognition is faster than typing, even considering the additional time required for corrections, and is acceptable in view of the overall reduction in report turn-around time.     

Diagnosis of deep vein thrombosis using multi-detector helical CT

PURPOSE: To evaluate the usefulness of multi-detector helical CT (MDHCT) with contrast medium in the diagnosis of deep vein thrombosis (DVT). Materials and Methods: The bilateral veins of the dorsal pedis in 45 patients (12 men, 33 women; average age, 64 years) under clinical suspicion of DVT were first punctured using 22-G needles. Then CT scanning from the level of the foot to the inferior vena cava was started 20 sec after the initial injection of 200 mL of dilute contrast medium (50 mL nonionic iodinated contrast medium of 300 mgI/mL and 150 mL saline) at a rate of 5 mL/sec. RESULTS: Two patients were excluded because of unsuccessful venous puncture. The average scanning time in 43 patients was 38.5 +/- 7.9 seconds. Images of veins from the foot to the inferior vena cava were clearly demonstrated in each case. MDHCT showed DVT in 32 cases and patent deep vein in 11 cases. Simultaneous venography of the lower extremity in 18 patients clearly visualized DVT at the same level detected by contrast MDHCT. CONCLUSION: MDHCT for the diangosis of DVT has the advantages of wider scanning range, shorter scanning time, and finer Z-axis resolution than the other diagnostic modalities.     

Correlation between augmentative effects of leucovorin on 5-fluorouracil and thymidylate synthase inhibition

Background We studied the relationship between the augmentative effects of leucovorin (LV) on 5-fluorouracil (5-FU) and the inhibition rate of thymidylate synthase (TS) activity in Colon 26 murine colon carcinoma cells and L1210 murine leukemia cells. Methods In cytotoxic and TS inhibition studies, cells were exposed for 24 hours to varied concentrations of 5-FU alone or in combination with 1 or 10 μmol/L LV. Cytotoxicity was determined by colony forming efficiency or trypan blue dye exclusion, and TS inhibition rate was determined by [6-³H]-5-FdUMP binding assay. A growth inhibition curve was constructed for longer exposures. Results For tumor cell growth inhibition and cytotoxicity, the augmentative effect was observed when the lower 5-FU concentrations (0.1 μg/mL) were used. There was no difference in the effects between the low (1 μmol/L) and high (10 μmol/L) LV doses. Normally, TS enzyme levels rise acutely when cells are exposed to 5-FU. Both cell lines displayed an increase in TS after exposure to 5-FU. This exposure to 5-FU resulted in the maintenance of free enzyme. LV was able to increase the ternary complex and TS inhibition rate with little induction of TS, however, the inhibition rate was not dependent on doses of LV. Conclusions It was concluded that the augmentative effect of LV at a concentration of 0.1 μg/mL 5-FU occurred at the clinically achievable levels of 1 μmol/L of LV, and there was no difference in the effect between the low and high doses. TS was inhibited effectively by 5-FU and the addition of LV, without a marked induction of TS.     

Optic nerve involvement in neuro-Behcet's disease

BACKGROUND: To report the ocular manifestations of neuro-Behcet's disease. CASES: A 34-year-old woman had recurrent meningitis. She developed diplopia, headache, and ataxia, and was diagnosed as having neuro-Behcet's disease. OBSERVATIONS: Imaging revealed two infarct foci in the transitional midbrain and pons. After treatment with prednisolone and colchicine, the diplopia resolved. Two years later, a scotoma developed in the right eye, in which the best-corrected visual acuity was 4/200. Papillitis and a prepapillary vitreous opacity were seen in the right fundus. These findings disappeared 11 days after subconjunctival steroid injections and increased colchicine. Her vision gradually improved to 20/20 two months later. CONCLUSION: Neuro-Behcet's disease may manifest with transient optic neuritis and prepapillary vitreous opacity.     

Smokers lack morning increase in platelet sensitivity to nitric oxide

This study investigated whether a circadian variation is present in the sensitivity of platelets to nitric oxide (NO) and, if so, if long-term smoking modifies it. Blood samples were taken at 0:00, 6:00, 9:00, 12:00, and 18:00 from 14 nonsmokers and 10 smokers. Dose-response curves for platelet aggregation by collagen were constructed in both the presence and absence of 1.0 micro M of NOR-3, a NO donor. The antiaggregation properties of NOR-3 were quantified by the half maximal concentration (EC50) ratio in the presence of NOR-3 to that in its absence. Platelet aggregation showed a monophasic circadian rhythm, with the lowest levels at 6:00 and the highest at 18:00 in both groups. However, there was a significant (p < 0.01) upward shifting of platelet aggregation in the smokers. A circadian variation in sensitivity to NOR-3 also was demonstrated in the nonsmokers. The sensitivity was lowest at 6:00 (1.68 +/- 0.19), increased significantly at 9:00 (2.58 +/- 0.26; p < 0.01), and remained high at 12:00 (2.47 +/- 0.21; p < 0.05). In smokers, however, a circadian variation in platelet sensitivity to NOR-3 was not found. Furthermore, the sensitivity was significantly lower at 9:00 and 12:00 in smokers (1.94 +/- 0.26 and 1.76 +/- 0.13, respectively; p < 0.05 for both) than in nonsmokers. Thus, long-term smoking impairs the normal morning increase in platelet sensitivity to NO, making platelets in smokers more thrombogenic during the hazardous hours.     

A controlled study of vitrectomy for diabetic macular edema

PURPOSE: To compare eyes that underwent surgery with untreated fellow eyes to assess the efficacy of vitrectomy for diabetic macular edema. METHODS: In a nonrandomized clinical trial, seven adult patients with mean age of 53 years (range 42 to 64) and the same degree and duration of diabetic macular edema in both eyes were followed up for more than 5 months after unilateral vitrectomy. The treated eye was selected at random, but if visual disparity between the both eyes was more than 3 lines, we operated on the worse side. We compared the preoperative and postoperative foveal thicknesses (the distance between the inner retinal surface and retinal pigment epithelium) and the best-corrected visual acuity by a certified examiner with those of the untreated fellow eye. RESULTS: In the seven eyes that underwent surgery, the foveal thickness decreased by an average of 622 to 269 microm (P =.027, Wilcoxon signed-rank test). In the fellow eyes, the average decrease in foveal thickness was from 617 to 546 microm (P =.176, Wilcoxon signed-rank test). The best-corrected postoperative visual acuity in the eyes that underwent surgery improved more than 2 lines in four eyes (57%) and remained the same in three eyes (43%). In the fellow eyes, it improved more than 2 lines in one eye (14%), remained the same in three eyes (43%), and decreased more than 2 lines in three eyes (43%). CONCLUSION: In eyes with diabetic macular edema that underwent surgery, the foveal thickness significantly decreased after vitrectomy. Vitrectomy may be effective for treating diabetic macular edema.     

A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1

PURPOSE: To report a novel mutation of the type1 optic atrophy(OPA1) gene in a Japanese family with OPA1 and to describe the clinical features of this family. METHODS: Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations. RESULTS: The proband and his sons had a heterozygous mutation of the OPA1 gene in the third nucleotide of intron 12(IVS12 + 3A-->T). Clinically, each patient had reduced visual acuity(onset within the first 6 years of life) and optic nerve pallor. The proband showed a central scotoma and generalized dyschromatopsia. This is the first report of OPA1 gene mutation in Japanese patients with familial optic atrophy. CONCLUSIONS: A mutation of the OPA1 gene was detected in a Japanese family with OPA1, which follows the same pattern as reported in Western countries. It is suggested that mutations of the OPA1 gene contribute to the development of optic nerve atrophy regardless of ethnic groups. Screening for the OPA1 gene mutation will be useful for diagnosis of OPA1 in Japanese patients.     

Triglyceride-lowering effect of pitavastatin [corrected] in a rat model of postprandial lipemia

We examined the effects of gamma-aminobutyric acid (GABA) on the blood pressure in spontaneously hypertensive rats and normotensive Wistar-Kyoto rats. A single oral administration (0.5 mg/kg) significantly lowered the systolic blood pressure in spontaneously hypertensive rats, but not in normotensive rats. In the mesenteric arterial bed, the perivascular nerve stimulation-induced increase in perfusion pressure and noradrenaline release were significantly inhibited by GABA in spontaneously hypertensive rats, but not in normotensive rats, and attenuated by the selective GABA(B) receptor agonist, baclofen, but not by the selective GABA(A) receptor agonist muscimol. The inhibitory effects of GABA on the perivascular nerve stimulation-induced increase in perfusion pressure and noradrenaline release were completely antagonized by the selective GABA(B) receptor antagonist, saclofen, but not by the selective GABA(A) receptor antagonist, bicuculline. These results suggest that, in spontaneously hypertensive rats, GABA has an antihypertensive effect due to its inhibition of noradrenaline release from sympathetic nerves in the mesenteric arterial bed via presynaptic GABA(B) receptors.