Precise Measurement of Differential Cross Sections of the Σ

The differential cross sections of the Σ^{-}p→Λn reaction were measured accurately for the Σ^{-} momentum (p_{Σ}) ranging from 470 to 650 MeV/c at the J-PARC Hadron Experimental Facility. Precise angular information about the Σ^{-}p→Λn reaction was obtained for the first time by detecting approximately 100 reaction events at each angular step of Δcosθ=0.1. The obtained differential cross sections show a slightly forward-peaking structure in the measured momentum regions. The cross sections integrated for -0.7≤cosθ≤1.0 were obtained as 22.5±0.68 [statistical error(stat.)] ±0.65 [systematic error(syst.)] mb and 15.8±0.83(stat)±0.52(syst) mb for 470

Correction to: Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.

The original article has been corrected.

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.

To elucidate mutation spectrum and genotype-phenotype correlations in Japanese patients with OI, we conducted comprehensive genetic analyses using NGS, as this had not been analyzed comprehensively in this patient population. Most mutations were located on COL1A1 and COL1A2. Glycine substitutions in COL1A1 resulted in the severe phenotype. INTRODUCTION: Most cases of osteogenesis imperfecta (OI) are caused by mutations in COL1A1 or COL1A2, which encode α chains of type I collagen. However, mutations in at least 16 other genes also cause OI. The mutation spectrum in Japanese patients with OI has not been comprehensively analyzed, as it is difficult to identify using classical Sanger sequencing. In this study, we aimed to reveal the mutation spectrum and genotype-phenotype correlations in Japanese patients with OI using next-generation sequencing (NGS). METHODS: We designed a capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling. Using NGS, we examined 53 Japanese patients with OI from unrelated families. RESULTS: Pathogenic mutations were detected in 43 out of 53 individuals. All mutations were heterozygous. Among the 43 individuals, 40 variants were identified including 15 novel mutations. We found these mutations in COL1A1 (n = 30, 69.8%), COL1A2 (n = 12, 27.9%), and IFITM5 (n = 1, 2.3%). Patients with glycine substitution on COL1A1 had a higher frequency of fractures and were more severely short-statured. Although no significant genotype-phenotype correlation was observed for bone mineral density, the trabecular bone score was significantly lower in patients with glycine substitutions. CONCLUSION: We identified pathogenic mutations in 81% of our Japanese patients with OI. Most mutations were located on COL1A1 and COL1A2. This study revealed that glycine substitutions on COL1A1 resulted in the severe phenotype among Japanese patients with OI.

Marked efficacy of combined three-drug therapy (Sodium Valproate, Topiramate and Stiripentol) in a patient with Dravet syndrome.

WHAT IS KNOWN AND OBJECTIVE: Dravet syndrome (DS) is an intractable epilepsy syndrome. The three-drug combination therapy of sodium valproate (VPA), clobazam (CLB) and stiripentol (STP) is recommended worldwide. CASE SUMMARY: We present a case of DS, in which treatment with CLB could not be continued because of the appearance of adverse reactions to it. Replacement with topiramate (TPM) proved to be markedly effective. WHAT IS NEW AND CONCLUSION: It is suggested that combination therapy with VPA, TPM and STP is for DS epilepsy.

Photocatalytic oxidation of NOx using composite sheets containing TiO2 and a metal compound.

The photocatalytic oxidation of nitrogen oxides (NO(x)) over titanium dioxide (TiO(2)) sheets containing metal compounds (MCs) had been studied. Calcium oxide (CaO), magnesium oxide (MgO), calcium carbonate (CaCO(3)), aluminium oxide (Al(2)O(3)) and ferric oxide (Fe(2)O(3)) were used as MCs. Al(2)O(3) and Fe(2)O(3) added to the TiO(2) sheet did not affect the photooxidation of nitrogen oxides (NO(x)). The CaO sheet treated with TiO(2) sol had the greatest efficiency as a NO(x) remover under UV irradiation. It is believed that CaO has a high adsorptivity for nitrogen dioxide (NO(2)) and nitric acid (HNO(3)). The amount of NO(x) removed by a TiO(2) sheet including MC showed a tendency to increase with increasing pH of the MC suspension, i.e. there is a good correlation between the alkalinity of the MC and the retention of NO(2) and HNO(3).

Removal of indoor pollutants under UV irradiation by a composite TiO2-zeolite sheet prepared using a papermaking technique.

Toluene and formaldehyde are malodorous and cause indoor pollution. These materials have received much attention as hazardous and malodorous substances. It is well known that long-term exposure to even fairly low levels of toluene and formaldehyde brings about the risk of asthma and eczema. In this study, a composite TiO2-zeolite (ZE) sheet prepared using a papermaking technique was applied to remove toluene and formaldehyde under UV irradiation. The optimum composition of the TiO2 (Ti)-ZE sheet was studied in detail with regard to the effective removal of various indoor pollutants. Gaseous toluene and formaldehyde were removed by a composite TiO2-ZE sheet with different efficiencies depending upon the ratio of Ti/ZE in the composite sheet. The composite sheets could decompose formaldehyde and toluene repeatedly after being recharged. It was shown that the sheets are potentially applicable as highly functional materials to be placed on walls and ceilings of houses for the removal of various indoor pollutants.

Effect of delayed argatroban treatment on intracerebral hemorrhage-induced edema in the rat.

Studies indicate that thrombin plays an important role in intracerebral hemorrhage (ICH) induced edema formation. However, the time window for administration of a thrombin inhibitor to reduce ICH-induced edema is unknown. Nor is it known whether this time window extends beyond the period when a thrombin inhibitor might exacerbate rebleeding. This study examines whether a thrombin inhibitor, argatroban, can reduce edema formation following intracerebral infusion of 100 microl of blood in the rat, the therapeutic time window for argatroban, and whether argatroban promotes rebleeding. Intracerebral injection of argatroban 3 hours after ICH caused a significant reduction in edema measured at 48 hours. The systemic administration of argatroban (0.9 mg/h) starting 6 hours after ICH also significantly reduced edema formation. There was no protection when the onset of argatroban administration was delayed to 24 hours after ICH. Argatroban did not increase collagenase-induced hematoma volume when given into the clot after 3 hours or given systemically at 6 hours. Our data suggest argatroban may be an effective therapy for ICH-induced edema.

Ultrastructural study of primary lacrimal adenocarcinoma.

PURPOSE: Primary adenocarcinoma of the lacrimal gland is a rare malignant tumor of the orbit. Up to now, there has been no presentation of its ultrastructural features. The histopathological findings and fine structures of one case of adenocarcinoma of the lacrimal gland are described in the present work. METHODS: The patient was a 59-year-old Japanese man with proptosis that had persisted for one month. A tumor was extirpated, and the tissues were prepared for light and electron microscopic examination. RESULTS: Electron microscopic examination demonstrated that the tumor cells had well-developed microvilli and lumens. These ultrastructure features are similar to those seen in adenocarcinomas at other sites. CONCLUSIONS: These observations suggest that the accurate diagnosis of rare malignant adenocarcinoma depends not only on routine techniques such as light microscopy of hematoxylin-eosin and PAS-diastase stained slides, but also on electron microscopic findings.

Terson syndrome: a case report suggesting the mechanism of vitreous hemorrhage.

OBJECTIVE: To present a patient with Terson syndrome and to propose a mechanism for vitreous hemorrhage. DESIGN: Observational case report. PARTICIPANT: A 50-year-old woman with subarachnoid hemorrhage and unilateral vitreous hemorrhage. METHODS: Detailed examination with fluorescein angiography and funduscopy. MAIN OUTCOME MEASURES: Site of dye leakage on fluorescein angiography in the eye with vitreous hemorrhage. RESULTS: Fluorescein angiography showed the leakage site at the margin of the disc in the eye with vitreous hemorrhage after the vitreous hemorrhage had been removed. CONCLUSIONS: The damage to peripapillary tissues demonstrated by fluorescein leakage suggests that intracranial hypertension affects peripapillary structures through the intervaginal space of the optic nerve sheath.

[Standard values of inter-inner canthal, inter-outer canthal, and inter-pupillary distances in normal Japanese infants and children].

UNLABELLED: PURPOSE AND MATERIALS: We studied inter-inner canthal distance(DIC), inter-outer canthal distance (DOC), and inter-pupillary distance (PD) in 1,006 normal Japanese infants and children to establish the normal ratio of DIC/PD and DOC/DIC for the diagnosis of congenital anomalies such as Waardenburg syndrome. RESULTS: DIC, DOC, and PD increased significantly from one month after birth to 12 years of age. DIC and DOC were stable but PD increased from 13 years of age to 15 years of age in junior high school. The DIC/PD and DOC/DIC averages were 0.61 and 2.73, respectively, one month after birth and 0.63 and 2.69 at three months after birth. On the other hand, DIC/PD and DOC/DIC were stable at 0.55-0.59 and 2.45 from 8 to 15 years of age. CONCLUSION: Since there have been no reports on standard values of DIC, DOC and PD in infants, we established the standard values in this study. These values are expected to be very useful in the diagnosis of neural crest cell migration anomalies, such as Waardenburg syndrome.

Immunohistochemical study of p53, p21 and PCNA in pterygium.

Since mutated p53 is one of the most frequent gene abnormalities in human cancer, we hypothesized that mutation of p53 may play an important role in growth and recurrence of pterygia, a dysplasia of the conjunctiva. Therefore, we compared pterygia of Japanese and Tunisian patients using antibodies against p53, p21 and proliferating cell nuclear antigen (PCNA). In Nagasaki, 21 pterygia of Japanese individuals were removed and in Gabes, 19 primary pterygia of Tunisian individuals. Positive staining of wild type p53 was not found in the Japanese pterygia, whereas 38.1% were positive for mutant p53, none were positive for p21 and 76.2% were positive for PCNA. The incidence of mutant p53-positive staining was 50.0% in males and 22.2% in females, which was statistically significant. In the 19 Tunisian patients, positive staining of wild type p53 was not found, whereas 36.8% were positive for mutant p53, 0% for p21 and 63.1% for PCNA. Differences between Japanese patients and Tunisian patients were not significant. There were 2 types of pterygium. One type did not show mutant p53 and the other showed mutant p53 caused by ultraviolet light. However, damage caused by p53-dependent programmed cell death of pterygium cells may lead to mutations in other genes which may allow the progressive multistep development of limbal tumors. It is possible that mutant p53-positive pterygia can develop into limbal tumors.

Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.

We describe two Thai families with Norrie disease (ND) in three generations, including 10 affected males and one manifesting female. All affected males in each family had severely defective eye development with complete loss of vision. In addition, three male patients (one from family 1 and two from family 2) suffered from epilepsy, and one female carrier from one family manifested blindness with phthisis bulbi in her right eye. Mutation analysis of the ND gene (NDP) revealed two different novel missense mutations (L16P and S75P) that co-segregated with ND in each family, suggesting that the newly appearing proline at codon 16 or codon 75 alters the conformation of the ND protein and contributes to the severe phenotype of ND in each family. Other studies suggest that epileptic seizures or growth retardation that is associated with ND is the consequence of loss of contiguous genes, because most such patients had deletions extending beyond the Norrie locus. Our finding that the three affected males in the two families with the missense mutations had epilepsy does not support a contiguous gene effect, but favors the pleiotropism of NDP, at least as far as the epileptic manifestation is concerned. The unilateral blindness in the female carrier may have been due to non-random X-inactivation.

Choroidal detachment after vitreous surgery.

BACKGROUND AND OBJECTIVE: To study the frequency and clinical features of choroidal detachment (CD) after vitreous surgery, because there have been no reports on this problem. PATIENTS AND METHODS: We studied the clinical features of 14 patients (15 eyes) with CD from a total of 380 patients treated with vitrectomy at the Nagasaki University Hospital from January 1994 to August 1997. RESULTS: The incidence of CD after vitreous surgery was 3.9% (15/380). The reasons for vitrectomy were 6 retinal detachments, 4 proliferative diabetic retinopathies, and 5 others. During vitrectomy, 4 eyes were treated with scleral buckling, 11 with endolaser photocoagulation, and 3 with cryoretinopexy. Retinal detachment as a postoperative complication was seen in 8 patients, and in 5 of them the retina remained detached after the final treatment. CONCLUSIONS: CD may be caused by scleral buckling, panphotocoagulation, or stress on the ciliary body. Some patients with CD have a poor outcome.

Apoptosis of the hyaloid artery in the rat eye.

The hyaloid artery is a vestigial vessel situated on the optic nerve extending to the posterior surface of the lens in the vitreous cavity of the eye. We studied the nature and pattern of cell death during regression of the hyaloid artery. The cells comprising the hyaloid artery appear to be alive for 20 days after birth in the rat, and cell death during regression of the hyaloid artery has the characteristics of apoptosis. We observed apoptotic bodies containing condensed chromatin and identified the hyaloid vessels as targets of macrophage-mediated remodelling. Using the "TUNEL method" for labeling fragmented DNA in vascular cells, we assessed the pattern of apoptotic cell death during hyaloid artery regression. Our study demonstrated the appearance of apoptosis in pericytes as well as endothelial cells during regression in the vasculature. In pericytes, apoptosis appeared to begin or to occur more frequently than in endothelial cells. Both morphological and TUNEL analyses indicated that capillary apoptosis occurs mainly from day 10 to day 20 after birth rather than from the 1st day. Macrophages were present near the hyaloid artery and these may influence apoptosis.

Eosinophilic granuloma (Kimura's disease) of the orbit: a case report.

BACKGROUND: Eosinophilic granuloma of the soft tissue, Kimura's disease, is a benign slow-growing tumor that is manifested clinically by one or more inflammatory nodules involving mainly the face and scalp, but rarely the eye. CASE REPORT: The patient was a 32-year-old male with swelling of the left lower eyelid, marked peripheral blood eosinophilia and increased serum immunogloblin E. MRI revealed swelling of all rectus muscles of the left eye, but no tumor mass. Corticosteroid treatment reduced the swelling of the eyelid, but it recurred after corticosteroid was discontinued. Eight years later the patient returned with a complaint of increased swelling of the left lower eyelid. An elastic, nontender, soft tumor mass was palpable subcutaneously in the left lower eyelid extending into the orbit. MRI revealed a tumor mass in the left orbital space. The parotid gland was also swollen and palpable. Both tumors were resected surgically, and histopathological study revealed prominent proliferation of lymphoid follicles with germinal centers showing interfollicular infiltration by eosinophils. The pathological findings in the parotid gland were similar. The diagnosis was Kimura's disease. CONCLUSION: This patient is unique in that he had no tumor at the first examination, only swelling of the rectus muscles, and a tumor mass appeared many years later. Unilateral swelling of the rectus muscles may be one of the first signs of Kimura's disease. Not only tumor but also swelling of the rectus muscles limited ocular movement.

Report of the annual statistical survey of the Japanese Society for Dialysis Therapy in 1996.

BACKGROUND: Nearly 170,000 patients were treated by maintenance renal replacement therapy (RRT) in Japan in 1996. The current status of Japanese patients on RRT might, in some way, be suggestive for patients on RRT in other countries. METHODS: The Japanese Society for Dialysis Therapy conducts a questionnaire survey of virtually every dialysis facility in Japan at the end of each year. Here we present the results of our survey of patients undergoing RRT as of the end of 1996, as well as five-year trends (1992-1996) in some of the data. RESULTS: The response rate was 99.8%. At the end of 1996, there were 167,192 patients on maintenance RRT in Japan (1,328 persons per million population). The numbers of patients on maintenance RRT continued to increase during the five-year period. The gross mortality rate for that period ranged from 9.4% to 9.7%. Cuprammonium rayon was the most commonly used material (24.0%) for dialyzer membranes, followed by cellulose triacetate (18.7%). Approximately 5.0% of hemodialysis (HD) patients had a prior history of surgical release of carpal tunnel. The longer the years on HD therapy, the greater the proportion of patients with a history of such an operation. The predialysis plasma beta 2-microglobulin concentration was highest in patients aged 30 to 45 years and declined slightly after the age of 45. There was no significant difference in the HbA1c level between continuous ambulatory peritoneal dialysis and HD patients, both in whom diabetes was the disease causing renal failure. Moreover, among HD patients with diabetes, there was a clear tendency for the HbA1c level to be higher when the normalized protein catabolic rate was higher. CONCLUSION: This report summarizes the latest results of the survey on Japanese patients on RRT.

Conradi-Hünermann syndrome with ocular anomalies.

We report a Japanese girl with the Conradi-Hünermann form of chondrodysplasia punctata and anterior segment malformations characteristic of Axenfeld-Rieger syndrome. The patient also had cataracts and unilateral optic atrophy. A possible role for homeobox-containing genes in the etiology of this type of chondrodysplasia punctata is suggested as an explanation for the coincidence of these two syndromes.