[Ventricular septal defect, pulmonary hypertension and 3C (cranio-cerebello-cardiac) syndrome: report of a case].

We report a case with the rare association of craniofacial anomalies, cerebellar vermis hypoplasia (Dandy-Walker variant) and congenital heart disease referred to as 3C (cranio-cerebello-cardiac) syndrome. A male infant was born at 40 weeks' gestation. The birth weight was 2,896 g. At birth he had macrocephaly, widely open metopic suture, ocular hypertelorism, cleft palate, apparently low-set ears, cerebellar vermis hypoplasia and ventricular septal defect (VSD) with pulmonary hypertension. Chromosomes were normal and we diagnosed 3C syndrome. At 8 months of age we performed a cardiac catheterization. The pulmonary artery pressure was 70/26 (48) mmHg and pulmonary vascular resistance (RpU) was 8.5 U/m2. But under the oxygenation RpU decreased to 1.5 U/m2. At 10 months of age we performed VSD patch closure. After operation his pulmonary artery pressure was 39/13 (25) mmHg under the oxygen therapy. He was on good course and discharged at 58 post operative day.

Distribution and origin of bovine major histocompatibility complex class II DQA1 genes in Japan.

We sequenced the major histocompatibility complex (MHC) class II DQA1 gene in 352 Japanese cattle (95 Japanese Black, 91 Holstein, 102 Japanese Shorthorn and 64 Jersey cattle) using a new sequence-based typing method. In total, 19 bovine MHC (BoLA)-DQA1 alleles, of which two were novel alleles, were detected. The Holstein, Jersey, Japanese Shorthorn and Japanese Black breeds had 13, 12, 10 and 15 alleles, respectively. The dendrogram that was constructed by the neighbor-joining method on the basis of the DQA1 gene allele frequencies of the four Japanese cattle breeds showed that the Holstein and Japanese Black breeds were closest to each other, with Jersey being farther from these two breeds than Japanese Shorthorn. In addition, Wu-Kabat analysis showed that the DQA1 alleles of the Holstein and Japanese Black were the most and least polymorphic, respectively. Phylogenetic analyses indicated that the DQA1 gene of Bovidae such as cattle, sheep, bison and goat were more similar to pig SLA-DQA genes than to human HLA-DQA1 and dog DLA-DQA genes. The cattle, goat, bison, sheep, human and pig DQA1 molecules had similar rates of amino acid sequence polymorphism, but the distribution of their polymorphic residues differed from that in the dog DQA1 protein. However, the Bovidae DQA1 molecule had more polymorphic residues than the human, pig and dog DQA molecules at two regions, namely positions 52-53 and 65-66. This indicates that the Bovidae DQA1 locus is more polymorphic than the DQA loci of other species.

Quantitative analysis of mammalian chromosome by scanning transmission soft X-ray microscopy.

Soft X-ray spectromicroscopy was applied to study the quantitative distribution of DNA and protein in a mammalian chromosome at the spatial resolution of 100 nm. The quantities of DNA and protein were evaluated using 1s-π* transition in the NEXAFS spectra at the nitrogen K absorption edge. DNA was not uniformly distributed in the chromosome and DNA/protein ratio was less than 0.497. The present analysis revealed the clues to identify other molecules that contribute to the absorption spectrum of the sample. The results suggested that accumulation of the absorption spectra of relevant molecules would support the refinement of the analysis.

Estimation of photon dose generated by a short pulse high power laser.

The authors obtain a new equation to estimate the forward component of a photon dose generated through the interaction between a target and a short pulse high power laser. As the equation is quite simple, it is useful for calculating the photon dose. The equation shows that the photon dose is proportional to the electron temperature in the range>3 MeV and proportional to the square of the electron temperature in the range<3 MeV. The dose estimated with this method is roughly consistent with the result of Monte Carlo simulation. With some assumptions and corrections, it can reproduce experimental results obtained and the dose result calculated at other laboratories.

Antibodies recognizing CD24 LAP epitope on human T cells enhance CD28 and IL-2 T cell proliferation.

Membrane expression of the CD24 molecule on activated T lymphocytes is not elucidated fully. We previously described the intracellular and cell-surface expression of the CD24 sialic acid-dependent epitope(s) on phytohemagglutinin-activated peripheral blood mononuclear cells. However, the CD24 core protein was not detected previously on human T cells. This study reinvestigated the expression and role of CD24 in T cell subsets. We analyzed binding of anti-CD24 monoclonal antibodies (mAbs) to sialic and leucine-alanine-proline (LAP) epitopes in resting and activated, normal T lymphocytes. CD24 LAP and CD24 sialic epitopes were detected on activated CD4- and CD8-positive cells. Although expression of CD24 sialic epitopes remained stably expressed in interleukin (IL)-2-dependent cultures, T cell expression of the LAP epitope was transient. Anti-LAP antibodies strongly enhanced the response of T cells to a combination of anti-CD3/CD28 mAbs and enhanced proliferative response induced by recombinant IL-2. We found similarities in the tissue distribution and function of the human CD24 LAP molecule and the murine, heat-stable antigen, which suggests that CD24 might function as a signaling molecule on human T cells.

Light and electron microscopic immunocytochemical study on the innervation of the pineal gland of the tree shrew (Tupaia glis), with special reference to peptidergic synaptic junctions with pinealocytes.

Conventional and immunocytochemical, light- and electron-microscopic studies on the innervation of the pineal gland of the tree shrew (Tupaia glis) were made. Neuropeptide Y (NPY)-immunoreactive fibers, which were abundantly distributed in the gland, disappeared almost completely after superior cervical ganglionectomy, suggesting that these fibers are mostly postganglionic sympathetic fibers. By contrast, tyrosine hydroxylase (TH)-immunoreactive fibers, which were less numerous than NPY-fibers, remained in considerable numbers in ganglionectomized animals, indicating the innervation of TH-positive fibers from extrasympathetic sources. Bundles of substance P (SP)- or calcitonin gene-related peptide (CGRP)-immunoreactive fibers, entering the gland at its distal end, were left intact after ganglionectomy. SP-fibers were numerous, but CGRP-fibers were scarce in the gland. SP-immunoreactive fibers were myelinated and nonmyelinated, and were regarded as peripheral fibers because of the presence of a Schwann cell sheath. NPY- and SP-immunoreactive fibers and endings were mainly localized in the pineal parenchyma. NPY-immunoreactive endings synapsed frequently, and SP-positive ones did less frequently, with the cell bodies of pinealocytes. The results suggest that NPY and SP directly control the activity of pinealocytes. Sections stained for myelin showed that thick and less thick bundles of myelinated fibers entered the gland by way of the habenular and posterior commissures, respectively. Under the electron microscope, the bundles were found to contain also unmyelinated fibers. A considerable number of nerve endings synapsing with the cell bodies of pinealocytes remained in ganglionectomized animals; these endings were not immunoreactive for TH or SP. Such synaptic endings may be the terminals of commissural fibers.

Role of the vitreous in branch retinal vein occlusion.

We analyzed the vitreous findings in 62 patients (62 eyes) with major branch retinal vein occlusion to determine whether vitreous examination was useful in predicting the development of retinal or disk neovascularization, or both. In 18 eyes with no or partial posterior vitreous detachment and large areas of capillary nonperfusion (5 disk diameters or more), ten eyes (55.6%) eventually developed neovascularization. Only three of the remaining 44 eyes (6.8%) developed neovascularization. The probability of this development was greater in eyes with no partial posterior vitreous detachment at the initial vitreous examination (P = .0177, Cox's regression analysis), and in those with large areas of nonperfusion (P = .0097, Cox's regression analysis).

A review of 324 cases of idiopathic premacular gliosis.

We reviewed the records of 324 patients (395 eyes) seen between 1973 and 1987 with a diagnosis of idiopathic premacular gliosis. Mean age of onset was 64.6 years, 189 (58.3%) were women, and all but six patients were white. Initial visual acuity was 20/40 or better in 214 eyes (54.2%), 20/50 to 20/100 in 136 eyes (34.4%), and poorer than 20/100 in 45 eyes (11.4%). Follow-up examinations were made in 214 eyes. After a mean follow-up period of 33.6 months, 106 (49.5%) of the 214 eyes maintained a visual acuity within one line of initial visual acuity, 28 (13.1%) were more than one line better, and 80 (37.4%) were poorer. Partial or complete posterior vitreous detachment was present in 303 (84.9%) of the 357 eyes undergoing vitreous study; 43 (14.2%) of these 303 eyes had partial vitreous detachment with vitreous adhesion to the macula. Cystoid macular edema was present on angiography in 77 (20.6%) of 373 eyes undergoing fluorescein angiography; 20 (26.0%) of these 77 eyes had partial posterior vitreous detachment with vitreous adhesion to the macula, whereas only 23 (7.8%) of the 296 eyes without cystoid macular edema had such vitreous adhesion (P less than .001). Other findings were myopia in 116 of 367 eyes (31.6%) (103, or 88.8%, of the myopic eyes had posterior vitreous detachment), and increased intraocular pressure in 56 of 324 eyes (17.3%).

Determination of trace amounts of albumin in human bronchoalveolar lavage fluids by fluorometry with chromazurol S.

Fluorometry using chromazurole S (CAS) was applied to determine trace amounts of albumin in human bronchoalveolar lavage fluids (BALF). The calibration curve was linear in the range of 5-60 micrograms/ml of albumin. The CAS method was proven to be much more selective for albumin than for IgG. Freezing of BALF samples did not affect albumin analysis by the CAS method after storage at -20 degrees C for 80 days. This finding suggests that albumin in the BALF samples is stable under these conditions. The correlation was highly linear (r = 0.966) between the albumin levels in concentrated BALF samples (n = 47) determined by the CAS method and by radial immunodiffusion. The CAS method is sensitive enough to determine albumin levels in unconcentrated BALF samples, whereas radial immunodiffusion often requires concentration. The former method is more suitable for measuring albumin in BALF samples than the latter, because concentration by ultrafiltration results in poor reproducibility. The concentration of albumin in BALF samples of healthy volunteers (n = 5) and patients with sarcoidosis (n = 32) was determined by the CAS method. There was a statistically significant difference (P < 0.01) in the albumin levels in BALF samples between healthy subjects and patients with sarcoidosis at a clinically active state (n = 15). This finding shows that the determination of albumin levels in BALF samples is useful for investigating lung diseases and that the CAS method is promising in the determination of trace albumin in BALF samples, because it is simple, sensitive and precise.

Determination of human immunoglobulin A and secretory immunoglobulin A in bronchoalveolar lavage fluids by solid phase enzyme immunoassay.

Solid phase enzyme immunoassay methods for the determination of secretory immunoglobulin A (IgA) and the total amount of serum and secretory IgA in bronchoalveolar lavage fluids (BALF) were developed. The solid phase was prepared by immobilizing rabbit anti-human IgA. Horseradish peroxidase-conjugated goat anti-secretory component or horseradish peroxidase-conjugated goat anti-human IgA (Fc) were used as labeled antibodies. The minimum detectable amounts of secretory IgA and total IgA were 2 and 0.5 ng/well, respectively. These assay methods were successfully applied to the determination of secretory and total IgA levels in BALF samples obtained from 44 subjects including healthy non-smokers, smokers and patients with the following lung diseases: idiopathic pulmonary fibrosis, sarcoidosis and hypersensitivity pneumonitis. The secretory and total IgA levels in BALF collected from healthy non-smokers (n = 9) were 10.5 +/- 3.6 and 25.4 +/- 15.5 (S.D.) micrograms/ml, respectively. In healthy smokers, the secretory IgA concentration was significantly decreased and in idiopathic pulmonary fibrosis, the total IgA was increased. These results indicate that the quantitation of secretory and total IgA may be useful for the investigation of lung disease.

Variations of posterior vitreous detachment.

AIMS: To identify variations in posterior vitreous detachment (PVD) and establish a clinical classification system for PVD. METHODS: 400 consecutive eyes were examined using biomicroscopy and vitreous photography and classified the PVD variations-complete PVD with collapse, complete PVD without collapse, partial PVD with thickened posterior vitreous cortex (TPVC), or partial PVD without TPVC. RESULTS: In each PVD type, the most frequently seen ocular pathologies were as follows: in complete PVD with collapse (186 eyes), age related changes without vitreoretinal diseases (77 eyes, 41.4%) and high myopia (55 eyes, 29.6%); in complete PVD without collapse (39 eyes), uveitis (23 eyes, 59.0%) and central retinal vein occlusions (8 eyes, 20.5%); in partial PVD with TPVC (64 eyes), proliferative diabetic retinopathy (30 eyes, 46.9%); and inpartial PVD without TPVC (111 eyes), age related changes without vitreoretinal diseases (62 eyes, 55.9%). This PVD categorisation was significantly associated with the prevalence of each vitreoretinal disease (p < 0.0001, chi 2 test on contingency table). CONCLUSIONS: PVD variations can be classified into four types, which is clinically useful because each type corresponds well to specific vitreoretinal changes.

Antimicrobial activity of newly synthesized isothiocyanate derivatives against pathogenic plant microorganisms.

Fifteen reaction products of isothiocyanates with cysteine, seven reaction products of isothiocyanates with 2,3-dimercapto-1-propanol, and four reaction products of isothiocyanates with sulfanilamide were synthesized. Their antimicrobial activity against pathogenic plant microorganisms was investigated.

Vitreous videography using the scanning laser ophthalmoscope.

To establish the method of vitreous videography using the scanning laser ophthalmoscope, we observed the vitreous in patients with age- or disease-related vitreous changes. We compared the results using four laser wavelengths. The detailed structures of the posterior vitreous cortex, a premacular defect, and a prepapillary glial ring were clearly shown under direct laser illumination. A short wavelength laser was found to be superior to a long wavelength laser for observing the posterior vitreous cortex. Vitreous opacities were clearly shown as dark spots under retroillumination using any of the four laser wavelengths. In vivo visualization of the vitreous was achieved using this new technique, which is superior to conventional biomicroscopy because of its monochromatic laser delivery system and confocal light detection capacity.

Fluorophotometry with a small animal adapter.

The usefulness of the Fluorotron Master fluorophotometer fitted with a small animal adapter was evaluated with tree shrews. We also determined that the optimal measurement parameters for these animals, which are regarded as promising for experimental use in ophthalmic research, are: fluorescein-Na concentration, 0.5 x 10(-9) to 1.0 x 10(-6) g/mL; fluorescein-Na dosage, 2 mg/kg; measurement time, 30 minutes after injection of fluorescein-Na into the ocular compartments. Results indicated that ultrafiltration for the measurement of protein-unbound fluorescein can be done with a hematocrit tube and a minimal blood sample, thereby reducing the impact of the sampling on the animal's general condition. The Fluorotron Master with the small animal adapter can offer advantages in estimating the blood-ocular barrier permeability using disease models in tree shrews.

Clinical characteristics of traumatic macular holes.

The clinical characteristics of 20 eyes of 20 consecutive patients with traumatic macular hole were studied retrospectively. The macular holes were elliptical with irregular edges in 19 eyes (95%) and ranged in size from 0.2 to 0.5 DD (disc diameter). Posterior vitreous detachment (PVD) was found in only 3 eyes (15%); the vitreous was detached from the macula in only one of these 3. Other conditions found in the 20 patients included commotio retinae, vitreous hemorrhage, hyphema, and choroidal rupture. These findings strongly suggest that most traumatic macular holes develop in the absence of PVD and that the pathogenesis is independent of the occurrence of PVD. We believe that the macular rupture (hole) is caused mechanically by the force of the impact on the posterior pole and the ocular deformity which result from blunt trauma.

Surgical repair of double-orifice of the mitral valve in cases with an atrioventricular canal defects.

OBJECTIVE: A Double-orifice in the mitral valve is an uncommon congenital cardiac lesion which occurs as an isolated anomaly or in association with other cardiac malformation. This report deals with our surgical experience of a double-orifice of the mitral valve in cases with an atrioventricular canal defect. PATIENTS AND METHODS: From 1991 through 1999, ten patients were diagnosed to have a double-orifice of the mitral valve at Shizuoka Children's Hospital. Each patient had associated major cardiac malformations, among which atrioventricular canal defect underwent surgical management, with five of these undergoing complete correction with or without previous pulmonary artery banding. Of these 10, the five cases were enrolled in this study. Two of these had a complete type, and the other three had a partial type. The cleft in the left-sided atrioventricular valve was closed partially in four and left untouched in one. Bridging tissue, when present, was left intact. There was no regurgitation from any accessory orifice and no repair for an accessory orifice was needed. RESULT: There was no late death and no replacement of the valve with prosthesis. During follow-up ranging from 1 to 4 years, none of the patients developed severe stenosis or progressive regurgitation in the left-sided atrioventricular valve. CONCLUSION: Meticulous surgical management of a double-orifice in the mitral valve in association with atrioventricular canal defect an achieve an acceptable midterm result without developing severe dysfunction in the left-sided atrioventricular valve.

[Role of the vitreous in retinal neovascularization evaluated by a comparison of central retinal vein occlusion and branch retinal vein occlusion].

Thirty three patients (33 eyes) with central retinal vein occlusion (CRVO) and 80 patients (81 eyes) with branch retinal vein occlusion (BRVO) were studied in an attempt to investigate the role of the vitreous in the formation of retinal neovascularization. All these eyes had some areas of capillary nonperfusion confirmed by fluorescein angiography and no scatter photocoagulation before the first examination. The incidence of new vessels at the optic disc (NVD) in CRVO was not significantly different from that in BRVO. However, the incidence of new vessels elsewhere (NVE) in CRVO was significantly less than that in BRVO. Follow-up vitreous examination of 36 cases while they had not developed NVD and/or NVE showed a higher incidence of posterior vitreous detachment from the mid-peripheral retina (MP-PVD) in CRVO than in BRVO. On the other hand, there was no statistically significant difference in the incidence of posterior vitreous detachment from the optic disk (D-PVD) between CRVO and BRVO. The high incidence of MP-PVD in CRVO may explain the low incidence of NVE in CRVO.

[Role of the vitreous in idiopathic preretinal macular fibrosis indicated by visual acuity in follow-up cases].

The vitreous and visual acuity in 103 eyes with idiopathic preretinal macular fibrosis were examined. The vitreous was studied biomicroscopically and the follow-up course was 6 months or more. Twenty-two eyes had no posterior vitreous detachment (group 1), 4 eyes had partial posterior vitreous detachment without traction to the macula (group 2), 17 eyes had partial posterior vitreous detachment with traction to the macula (group 3), and 60 eyes had complete posterior vitreous detachment (group 4). There were significantly more eyes with a visual acuity of 0.4 or worse, decreased acuity, or macular fluorescein leakage in group 3 than in groups 1 or 4. Decreased visual acuity was found in 41% of eyes with macular fluorescein leakage, but in only 11% of eyes without macular fluorescein leakage. It is presumed that the vitreous traction to the macula and macular fluorescein leakage are closely related to the outcome of visual acuity in cases with idiopathic preretinal macular fibrosis.

[Biomicroscopic findings of premacular posterior vitreous].

The presence of vitreous gel in front of the macular area is still controversial. In order to understand the anatomy of the premacular vitreous, the posterior vitreous was observed biomicroscopically and slit-lamp photographs were taken in 100 eyes without posterior vitreous detachment. We defined the premacular vitreous as the lacuna seen when optically empty space, a demarcated oval shaped dark area without Tyndall phenomenon, was observed in front of the macula. Although the premacular vitreous showed liquefaction, the Tyndall-phenomenon, indicating the presence of formed vitreous gel, was observed in most cases. Premacular lacuna was observed in 3 cases with high myopia, and in one case with vitreoretinal degeneration syndrome. The bursa premacularis or premacular precortical vitreous pocket observed in autopsy eyes could barely be observed in living eyes.

[Property and clinical availability of the noncontact autofocus specular microscope].

Reproducibility of results and possible clinical use of a newly developed noncontact autofocus specular microscope were studied. Morphological parameters of corneal endothelium were analyzed on images taken with the noncontact autofocus specular microscope and the ordinary contact specular microscope simultaneously in 10 eyes of 10 normal subjects. Intraphotographic and interphotographic study by autoanalysis of 5 images each of 10 eyes taken by the noncontact instrument showed small coefficient variation of mean cell area and cell density (less than 5%, individually). These morphological parameters showed about 7% difference between autoanalysis and manual analysis of the images taken by the noncontact instrument. In comparison with the images taken by the contact instrument, the images taken by the noncontact instrument showed about 7% difference in mean cell area and cell density (p < 0.001, individually). In respect of reproducibility, this newly developed noncontact autofocus specular microscope is clinically useful. The differences of morphological parameters between the new and ordinary instruments might be caused the differences in corneal shapes.