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Biomedical subjects

S Ninomiya

Publications and source records attributed to S Ninomiya.

At least 19 recordsLinked to original sources

Quantitative evaluation of the petal shape variation in Primula sieboldii caused by breeding process in the last 300 years.

Primula sieboldii: (E. Morren) has been a popular garden plant at least since the Edo period, about 300 years ago. We compared petal form between cultivars and wild populations in order to characterise the changes that have occurred during domestication. The comparison was made using EF-PCA analysis, which describes overall petal shape mathematically by transforming petal contour coordinates into elliptic Fourier descriptors; it subsequently summarises these descriptors by principal component analysis (PCA). Rearing cultivars in a common-garden experiment identified the PCs with a substantial genetic element. A clear heritable component was detected for the PCs characterising symmetrical variation in flower shape, but not the asymmetrical variation. Wild populations of this species have become endangered owing to habitat destruction by human activity, and many lowland floodplain habitats have been lost. Variation within the remaining wild populations was significantly lower than in the cultivars for PC1 (aspect ratio), PC3 (curvature of proximal and distal parts) and petal area; but not for PC2 (depth of head notch) and PC4 (position of the centre of gravity). The shifts in petal form from the wild populations to the cultivars parallel those seen in other crop-types following domestication, including an increase in size and diversity of forms: cultivars have shallower head notches, more fan-shaped petals and larger petals than do wild P. sieboldii.

Analysis of Variance↗

Early attachment of uncultured retinal pigment epithelium from aged donors onto Bruch's membrane explants.

Retinal pigment epithelium (RPE) transplantation might replace cells lost as a consequence of choroidal neovascular membrane excision in patients with age-related macular degeneration (AMD). Autologous transplantation of RPE cells harvested from a peripheral biopsy may overcome problems of immune rejection. To study the feasibility of autologous RPE cell transplantation, the authors examined the attachment of freshly harvested RPE cells from aged donors onto Bruch's membrane explants, debrided to (1) remove or (2) preserve the RPE basement membrane. Human retinal pigment epithelial sheets were harvested from adult donor eyes (N = 12, mean age 79.00 +/- 9.40 years) and, following incubation in collagenase, were mechanically fragmented into microaggregates. Microaggregates (approximately 120 000 cells) were seeded onto the paired explants (7 mm diameter) and incubated for 20 min, 1, 4, or 24 hr at 37 degrees C. The percent coverage of the debrided surface by microaggregates was determined by sampling the center of the explants with scanning electron microscopy. RPE microaggregate attachment to Bruch's membrane was significantly greater at all time points analysed in samples with intact basement membrane versus those with an exposed inner collagenous layer. Coverage of debridements retaining intact RPE basement membrane was 1.83 +/- 1.10% at 20 min, 3.54 +/- 2.14% at 1 hr, and 8.68 +/- 2.63% at 4 hr. Coverage of debridements lacking basement membrane was 0.10 +/- 0.04% at 20 min, 0.39 +/- 0.25% at 1 hr, and 0.63 +/- 0.42% at 4 hr. Based on their morphologic appearance, many cells were dying as early as 1 hr following seeding. To increase surface coverage, the authors seeded four times the above number of cells and incubated the specimens for 1 hr. Coverage on explants lacking RPE basement membrane showed no increase in the number of cells attached to the inner collagenous layer. There was a significant approximately three-fold increase in the number of cells attached in the presence of basement membrane. These results indicate that if RPE cells from aged human donors are used for transplantation, some modification of the Bruch's membrane surface or the cells must be considered for cell attachment and eventual cell survival.

Aged↗

Pharmacokinetics of a benzodithiin (RD3-0028) following aerosol treatment in rat.

1. RD3-0028, a benzodithiin compound, has potent antiviral activity against respiratory syncytial virus (RSV) in cell culture. The compound also inhibits growth of RSV and improves pathologic changes of interstitial pneumonia in the immunosuppressed mouse when delivered by small-particle aerosol. 2. In the present study, the absorption, distribution and excretion of 14C-RD3-0028 were compared in rat following either a single aerosol treatment or oral administration. 3. The plasma concentration was maintained at the same level from 5 min to 1 h, and decreased with a half-life of 2.2 +/- 0.1 h for 1-8 h. 4. The excretion of radioactivity in the urine and faeces at 24 h after aerosol treatment was 89.3 and 4.5%, respectively, indicating that almost all the radioactivity was rapidly excreted in the urine. The excretion of total radioactivity was 98.9% within 168 h. 5. The concentrations of radioactivity in the lung and trachea following aerosol treatment were higher than those in other tissues, and were detected even at 72 h. 6. These results suggest that the aerosol treatment might be useful for delivering RD3-0028 to the respiratory tract of RSV-infected patients.

Administration, Oral↗

Transforming growth factor-beta gene polymorphism in sarcoidosis and tuberculosis patients.

SETTING: Transforming growth factor-beta (TGF-beta) plays an important role in many diseases, influencing as it does such processes as immune responses, fibrosing processes, and angiogenesis. Recently, polymorphisms have been described for TGF-beta that are associated with the risk of several diseases. In this study, we investigated whether TGF-beta 1 polymorphism has an effect on sarcoidosis and tuberculosis. OBJECTIVE: TGF-beta 1 Codon 10 T869C polymorphism was investigated in 110 healthy control subjects, 104 sarcoidosis patients, and 101 tuberculosis patients. DESIGN: The TGF-beta genotype was determined using polymerase chain reaction restriction fragment length polymorphism. RESULTS: We found no significant differences in TGF-beta genotypes between sarcoidosis patients and healthy controls or tuberculosis patients and controls. The long axis of the tuberculin skin test was larger in the CC type compared with the CT type. However, there was no association between the TGF-beta genotype and the roentgenographic stage, the disappearance of shadows, or organ involvement in sarcoidosis, nor any association between genotype, the extent or type of roentgenographic shadow, or detected volume of tubercle bacilli in tuberculosis. CONCLUSION: From the results, we believe that TGF-beta polymorphisms on the whole do not have a strong influence on disease onset or clinical progression in sarcoidosis and tuberculosis, although this polymorphism might have an effect on the immune response in a tuberculosis host.

Adult↗

[A review of Japanese literatures concerning surgery for lung cancer with idiopathic interstitial pneumonia].

OBJECTIVE: The aim of the present study is to investigate the perioperative management of acute exacerbation of idiopathic interstitial pneumonia (IIP) after pulmonary resection for lung cancer. METHODS: We reviewed 5 Japanese literatures published from 1992 through 1998. The present study included 50 lung cancer patients with IIP, of which 3 were our cases and 47 were reported cases. RESULTS: Within 30 days after operation, acute exacerbation of IIP occurred in 12 cases (24.0%). Preoperative profiles (gender, age, smoking status, respiratory function, pathologic stage) of the exacerbated cases did not differ from those of non-exacerbated cases. The mean intraoperative PaO2 of the exacerbated cases was significantly higher than that of non-exacerbated cases (224 +/- 45.6 Torr vs 120 +/- 41.2 Torr, p = 0.005). The rate of acute exacerbation increased with the extent of resection, that is 42.8% in pneumonectomy, 24.3% in lobectomy, and 0% in wedge resection although the difference was not significant. After acute exacerbation of IIP, all 12 cases were given high doses of steroids. However, 11 cases died due to the disease progression (mortality rate = 91.7%). CONCLUSION: In order to establish the perioperative management for prevention of acute exacerbation of IIP, multi-institutional study is warranted on the basis of the present results (intraoperative FiO2, administration schedule of steroids etc).

Aged↗

Maternal origin of a unique extra chromosome, der(9)(pter-->q13::q13-->q12:) in a girl with typical trisomy 9p syndrome.

We report on a girl with the typical trisomy 9p syndrome who had an additional E-sized metacentric chromosome. On the basis of GTG- and CBG-banding, her karyotype was considered to be 47,XX,+der(9)(pter-->q13::q13-->q12:) de novo. Results of a fluorescence in situ hybridization study using a chromosome 9-specific painting probe were compatible with this cytogenetic interpretation. Molecular analyses of six highly polymorphic dinucleotide repeat loci on the short arm and the proximal long arm of chromosome 9 demonstrated that the girl inherited one allele from her father and two identical or different alleles from the mother. We speculated that the extra chromosome may have resulted from either nondisjunction of chromosome 9 followed by a U-type exchange and a crossing-over between different sister chromatids during maternal meiosis I and subsequent breakage and malsegregation during meiosis II, or nondisjunction during meiosis II followed by isochromosome formation in one of the two maternal chromosomes 9 and subsequent breakage.

Alleles↗

An informative linkage map of soybean reveals QTLs for flowering time, leaflet morphology and regions of segregation distortion.

A genetic linkage map covering a large region of the genome with informative markers is essential for plant genome analysis, including identification of quantitative trait loci (QTLs), map-based cloning, and construction of a physical map. We constructed a soybean genetic linkage map using 190 F2 plants derived from a single cross between the soybean varieties Misuzudaizu and Moshidou Gong 503, based on restriction-fragment-length polymorphisms (RFLPs) and simple-sequence-repeat polymorphisms (SSRPs). This linkage map has 503 markers, including 189 RFLP markers derived from expressed sequence tag (EST) clones, and consists of 20 major linkage groups that may correspond to the 20 pairs of soybean chromosomes, covering 2908.7 cM of the soybean genome in the Kosambi function. Using this linkage map, we identified 4 QTLs--FT1, FT2, FT3, and FT4--for flowering time, the QTLs for the 5 largest principal components determining leaflet shape, 6 QTLs for single leaflet area, and 18 regions of segregation distortion. All 503 analyzed markers identified were located on the map, and almost all phenotypic variations in flowering time were explained by the detected QTLs. These results indicate that this map covers a large region of the soybean genome.

Chromosome Mapping↗

Long-term results of rotational acetabular osteotomy in patients with slight narrowing of the joint space on preoperative radiographic findings.

Between 1975 and 1984, we performed rotational acetabular osteotomy in 22 female patients with painful hip dysplasia. At the time of surgery, the patients were in their twenties, and radiographs showed slight narrowing of the joint space. Of these patients, 15 were followed-up for 15 to 22 years (average, 19.8 years) after surgery. The preoperative severity of coxarthrosis in all 15 hips was graded as stage II, according to the classification of coxarthrosis advocated by the Japanese Orthopaedic Association. All 15 patients available for follow-up had had no additional operations on the operated side during the follow-up period. At the time of follow-up, the patients were aged 41 to 48 years (average, 44.3 years). Of the 15 patients, 12 had little or no pain and 14 could walk for more than 30 min without a cane; the severity of coxarthrosis was graded stage I in 3 hips, stage II in 4 hips, stage III in 5 hips, and stage IV in 3 hips. We conclude that rotational acetabular osteotomy is efficacious for patients who have preoperative radiographic findings of slight narrowing of the joint space.

Acetabulum↗

Combined intertrochanteric valgus and rotational acetabular osteotomy.

Results are reported for combined intertrochanteric valgus and rotational acetabular osteotomies in 18 dysplastic hips (17 patients), involving two types of femoral head and neck deformities, after an average followup of 13 years (range, 8.9-22.6 years). The mean age of the patients at the time of surgery was 25 years (range, 11-36 years). Pain was the indication for surgery in all patients. The preoperative deformities were classified into two groups. Hips in Group I had an angular head and a normal or valgus neck. Hips in Group II had an ovoid head, a short neck in varus angulation, and relative overgrowth of the greater trochanter. There were seven hips (seven patients) in Group I, and 11 hips (10 patients) in Group II. The sum of the most recent pain score and gait score of Merle d'Aubigné (a full score of 12 points) was 11 to 12 points for seven of 11 hips of Group II, and 11 to 12 points for only one of the seven hips of Group I. For patients with hip pain in Group II, this operation fairly consistently relieves pain for at least an average of 13 years, but whether the rate of development of osteoarthrosis is retarded is not known.

Acetabulum↗

[Toriello syndrome].

Explore the source record for details and available documents.

Abnormalities, Multiple↗

Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase.

To facilitate a rapid and practical molecular diagnosis of 21-hydroxylase deficiency (21-OHD), we developed a polymerase chain reaction (PCR) test in which only the 21-OH gene (CYP21) is amplified. We applied the test to diagnose 23 patients with salt-wasting type of 21-OHD. The upstream and downstream sequences of CYP21 have been specifically amplified by using a primer set containing the 8-bp deletion sequence of exon 3, which is distinct from its pseudogene CYP21P. The amplified PCR products were further subjected to mutation detection by restriction analysis: E1PL by AciI, I2g by PstI, E63a by DraIII, E7VL by ApaLI, E8non by PstI, and E8RW by AciI. To detect delections and/or gene conversions occurring on exon 3, we used the method described by Rumsby and Honour [1990: J Med Genet 27:676-678]. Our method is able to elucidate 8 common CYP21 mutations by using only 3 primer pairs and 4 restriction enzymes. The overall detection ratio of abnormal haplotypes by this method was over 95%, indicating that our method is practical and useful, particularly for carrier detection.

Adrenal Hyperplasia, Congenital↗

Ossification of the acetabular labrum.

We report a rare case of extensive ossification of the unilateral acetabular labrum in a 40-year-old man. Radiological manifestations of diffuse skeletal hyperostosis were not found in the spine.

Acetabulum↗

Long-term results of rotational acetabular osteotomy in young patients with advanced osteoarthrosis of the hip.

Between 1974 and 1987, we performed 38 rotational acetabular osteotomies to treat advanced coxarthrosis caused by acetabular dysplasia in 38 patients who were aged 40 years old or less at the time of surgery. Of these patients, 28 were followed-up for more than 10 years after surgery. The preoperative severity of coxarthrosis was graded as stage III in 21 hips and as stage IV in 7 hips, according to our modification of the classification of coxarthrosis advocated by the Japanese Orthopaedic Association. At the time of follow-up, 27 patients retained their own hip joints on the operated side 10 to 18 years (average, 13 years) after surgery, and the remaining patient had had a secondary total hip replacement 7 years after the surgery. Of the 27 patients who retained their own hip joints on the operated side, 20 had little or no pain and none suffered from severe pain in the operated hip; the severity of coxarthrosis was graded as stage II in 4 hips, as stage III in 9 hips, and as stage IV in 14 hips. We conclude that rotational acetabular osteotomy can be a useful procedure in young patients who have advanced coxarthrosis secondary to acetabular dysplasia.

Acetabulum↗

A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.

The human SOX9 gene is responsible for the campomelic syndrome (CMPS) and sex reversal. This gene encodes a transcription factor containing a DNA binding domain homologous to the SRY high mobility group (HMG) domain. A novel mutation of SOX9, i.e. a single G deletion in one allele at nt 296 from A of the first ATG in the open reading frame, was identified in a patient with CMPS with sex reversal. The deletion resulted in a frameshift mutation upstream of the HMG box and a stop codon 30 bp downstream of the HMG box. The predicted truncated SOX9 protein contained 108 amino acids instead of the 509 amino acids of the normal SOX9 protein, removing nearly 80% of the SOX9 protein, including the HMG and the C-terminal transactivation domain. Most patients with CMPS reported previously died within the neonatal period. Our findings that the patient has survived, although has been in daily need of mechanical ventilation support for 5 years and 3 months despite a severely impaired SOX9 protein, do not support a linear relationship between the type of mutation and severity of the clinical outcome.

Abnormalities, Multiple↗

Combining regression trees and radial basis function networks.

We describe a method for non-parametric regression which combines regression trees with radial basis function networks. The method is similar to that of Kubat, who was first to suggest such a combination, but has some significant improvements. We demonstrate the features of the new method, compare its performance with other methods on DELVE data sets and apply it to a real world problem involving the classification of soybean plants from digital images.

Models, Statistical↗