24 results on '"Kondo, Osamu"'
Search Results
2. Influence of long and short arms of X chromosome on maxillary molar crown morphology.
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Nakayama, Mitsuko, Kondo, Osamu, Pesonen, Paula, Alvesalo, Lassi, and Lähdesmäki, Raija
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CHROMOSOMES , *TOOTH crown (Anatomy) , *TURNER'S syndrome , *KARYOTYPES , *DENTITION - Abstract
Although genes on the human X chromosome reportedly influence tooth crown morphology, little is known about X chromosome activation or inactivation systems relevant to morphological variations. We assessed the relationships between tooth crown size and crown morphological traits in females with Turner syndrome, the variants of which include complete absence of one X chromosome, lack of the short arm (Xp), or duplication of the long arms (Xq), and then estimated the functions of Xp and Xq in the process of unilateral X chromosome inactivation during tooth crown development. The mesiodistal and buccolingual diameters in the maxillary first (M1) and second (M2) permanent molars were compared among X chromosome karyotypes by multiple regression analyses, and their relationships with the development of Carabelli’s cusp and the distolingual cusp were analyzed using logistic regression analysis. The crown sizes increased in the order of the 46,X,i(Xq) karyotype, 45,X and 45,X/46,XX karyotypes, and control group. A lower frequency of Carabelli’s cusp and higher frequency of a reduced distolingual cusp in M1 were characteristics of Turner syndrome. The overall M1 and M2 crown sizes differed among the X chromosome karyotypes, whereas a smaller crown size was associated with a reduced distolingual cusp but not with Carabelli’s cusp. Considering the differences in chromosome arrangement among females with Turner syndrome and the process of unilateral X chromosome inactivation, the observed results can be considered in terms of quantity or number of promoters/inhibitors during tooth crown development. The X chromosome karyotypes have a strong influence on the overall crown sizes of the M1 and M2 molars because those karyotypes with variable numbers of active gene regions directly influence tooth germ development in an early stage of human odontogenesis. The later forming cusps, such as the distolingual cusp and Carabelli’s cusp, may be affected by this developmental prerequisite. [ABSTRACT FROM AUTHOR]
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- 2018
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3. Quantitative evaluation of maxillary bone deformation by computed tomography in patients with leprosy.
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Kasai, Norio, Kondo, Osamu, Suzuki, Koichi, Aoki, Yoshinori, Ishii, Norihisa, and Goto, Masamichi
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HANSEN'S disease , *COMMUNICABLE diseases , *MYCOBACTERIAL diseases , *PATIENTS , *MAXILLA - Abstract
Background: Facial deformation as a sequela of leprosy is caused not only by a saddle nose but also by regression of the maxilla, as well documented in paleopathological observations of excavated skeletal remains of patients with leprosy. However, maxillary changes in living patients have been evaluated only by the subjective visual grading. Here, we attempted to evaluate maxillary bone deformation in patients with leprosy using three-dimensional computed tomography (3D-CT). Methods: Three-dimensional images centered on the maxilla were reconstructed using multiplanar reconstruction methods in former patients with leprosy (n = 10) and control subjects (n = 5); the anterior-posterior length of the maxilla (MA-P) was then measured. The difference between the MA-P of the patients and those of controls was evaluated after compensating for individual skull size. These findings were also compared with those from previous paleopathological studies. Findings: Three former patients with lepromatous leprosy showed marked atrophy of the maxilla at the prosthion (-8.6, -11.1 and -17.9 mm) which corresponded with the visual appearance of the maxillary deformity, and these results were consistent with paleopathological findings of excavated skeletal remains. Additionally, the precise bone defects of the maxilla could be individually calculated for accurate reconstructive surgery. Interpretation: We have successfully illustrated maxillary bone deformities in living patients with leprosy. This study also confirmed the maxillary regression described in paleopathological studies. [ABSTRACT FROM AUTHOR]
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- 2018
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4. Maximum likelihood estimate of life expectancy in the prehistoric Jomon: Canine pulp volume reduction suggests a longer life expectancy than previously thought.
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Sasaki, Tomohiko and Kondo, Osamu
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LIFE expectancy , *PREHISTORIC peoples , *CUSPIDS , *PALEODEMOGRAPHY , *HUNTER-gatherer societies - Abstract
Recent theoretical progress potentially refutes past claims that paleodemographic estimations are flawed by statistical problems, including age mimicry and sample bias due to differential preservation. The life expectancy at age 15 of the Jomon period prehistoric populace in Japan was initially estimated to have been ∼16 years while a more recent analysis suggested 31.5 years. In this study, we provide alternative results based on a new methodology. The material comprises 234 mandibular canines from Jomon period skeletal remains and a reference sample of 363 mandibular canines of recent-modern Japanese. Dental pulp reduction is used as the age-indicator, which because of tooth durability is presumed to minimize the effect of differential preservation. Maximum likelihood estimation, which theoretically avoids age mimicry, was applied. Our methods also adjusted for the known pulp volume reduction rate among recent-modern Japanese to provide a better fit for observations in the Jomon period sample. Without adjustment for the known rate in pulp volume reduction, estimates of Jomon life expectancy at age 15 were dubiously long. However, when the rate was adjusted, the estimate results in a value that falls within the range of modern hunter-gatherers, with significantly better fit to the observations. The rate-adjusted result of 32.2 years more likely represents the true life expectancy of the Jomon people at age 15, than the result without adjustment. Considering ∼7% rate of antemortem loss of the mandibular canine observed in our Jomon period sample, actual life expectancy at age 15 may have been as high as ∼35.3 years. [ABSTRACT FROM AUTHOR]
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- 2016
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5. Expansion of vertebral tuberculosis into Hokkaido: Implications for the population history of Ainu.
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Kondo, Osamu and Aono, Tomoya
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TUBERCULOSIS , *AINU , *ARCHAEOLOGY , *PUBLIC history - Abstract
The initial expansion of human tuberculosis (TB) into Hokkaido has been confirmed by an archeological human skeleton from the site of Usu 4 in southwestern Hokkaido, Japan. The time of expansion is assumed at an early phase of the Ainu Culture period based on the burial dating to between 1640 and 1663 AD. Osteological lesions concentrated mainly on the vertebral column are described for both surface and inner trabecular morphology, and have been interpreted as osteolytic erosion and inflammatory reactive bone formation. Taking other paleopathological TB cases in and around Japan into consideration, the introduction of TB would have been routed through the Japanese archipelago into Hokkaido, which was coincident with the adoption of systematic agriculture such as dry-field plowing, not with animal (cattle) domestication. This subsistence shift must have helped to maintain a much denser population in the local community, thus keeping the TB bacillus among the host human groups. This new TB case reinforces the assumption of frequent bio-cultural interaction between the Ainu in Hokkaido (particularly in southwestern part of Hokkaido) and the mainland Japanese in (eastern) Honshu. It relates to issues of the population history of the Ainu, and discusses a plausible scenario. [ABSTRACT FROM AUTHOR]
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- 2016
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6. An informative prior probability distribution of the gompertz parameters for bayesian approaches in paleodemography.
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Sasaki, Tomohiko and Kondo, Osamu
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HUNTER-gatherer societies , *PALEODEMOGRAPHY , *MORTALITY , *BAYESIAN analysis , *PROBABILITY theory , *PHYSICAL anthropology - Abstract
ABSTRACT Objectives In paleodemography, the Bayesian approach has been suggested to provide an effective means by which mortality profiles of past populations can be adequately estimated, and thus avoid problems of 'age-mimicry' inherent in conventional approaches. In this study, we propose an application of the Gompertz model using an 'informative' prior probability distribution by revising a recent example of the Bayesian approach based on an 'uninformative' distribution. Methods Life-table data of 134 human populations including those of contemporary hunter-gatherers were used to determine the Gompertz parameters of each population. In each population, we used both raw life-table data and the Gompertz parameters to calculate some demographic values such as the mean life-span, to confirm representativeness of the model. Then, the correlation between the two Gompertz parameters (the Strehler-Mildvan correlation) was re-established. We incorporated the correlation into the Bayesian approach as an 'informative' prior probability distribution, and tested its effectiveness using simulated data. Results Our analyses showed that the mean life-span (≥ age 15) and the proportion of living persons aging over 45 were well-reproduced by the Gompertz model. The simulation showed that using the correlation as an informative prior provides a narrower estimation range in the Bayesian approach than does the uninformative prior. Conclusions The Gompertz model can be assumed to accurately estimate the mean life-span and/or the proportion of old people in a population. We suggest that the Strehler-Mildvan correlation can be used as a useful constraint in demographic reconstructions of past human populations. Am J Phys Anthropol 159:523-533, 2016. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]
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- 2016
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7. Size and placement of developing anterior teeth in immature Neanderthal mandibles from Dederiyeh Cave, Syria: Implications for emergence of the modern human chin.
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Fukase, Hitoshi, Kondo, Osamu, and Ishida, Hajime
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INCISORS , *DENTITION , *PHYSICAL anthropology , *HUMAN biology , *DENTAL anthropology - Abstract
ABSTRACT Evolutionary and functional significance of the human chin has long been explored from various perspectives including masticatory biomechanics, speech, and anterior tooth size. Recent ontogenetic studies have indicated that the spatial position of internally forming anterior teeth partially constrains adult mandibular symphyseal morphology. The present study therefore preliminarily examined the size and placement of developing anterior teeth in immature Neanderthal mandibles of Dederiyeh 1 and 2, compared with similarly-aged modern humans ( N = 16) and chimpanzees ( N = 7) whose incisors are comparatively small and large among extant hominids, respectively. The Dederiyeh 1 mandible is described as slightly presenting a mental trigone and attendant mental fossa, whereas Dederiyeh 2 completely lacks such chin-associated configurations. Results showed that, despite symphyseal size being within the modern human range, both Dederiyeh mandibles accommodated overall larger anterior dentition and displayed a remarkably wide bicanine space compared to those of modern humans. Dederiyeh 2 had comparatively thicker deciduous incisor roots and more enlarged permanent incisor crypts than Dederiyeh 1, but both Dederiyeh individuals exhibited a total dental size mostly intermediate between modern humans and chimpanzees. These findings potentially imply that the large deciduous/permanent incisors collectively distended the labial alveolar bone, obscuring an incipient mental trigone. It is therefore hypothesized that the appearance of chin-associated features, particularly of the mental trigone and fossa, can be accounted for partly by developmental relationships between the sizes of the available mandibular space and anterior teeth. This hypothesis must be, however, further addressed with more referential samples in future studies. Am J Phys Anthropol 156:482-488, 2015. © 2014 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]
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- 2015
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8. Diversity in matrilineages among the Jomon individuals of Japan.
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Mizuno, Fuzuki, Taniguchi, Yasuhiro, Kondo, Osamu, Hayashi, Michiko, Kurosaki, Kunihiko, and Ueda, Shintaroh
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PALEOLITHIC Period , *HAPLOGROUPS , *GENETIC variation , *ARCHAEOLOGICAL human remains , *MITOCHONDRIAL DNA - Abstract
The Jomon period of Japan is characterised by a unique combination of sedentary and hunting/gathering lifestyles, spanning for more than 10,000 years from the final Pleistocene to the Holocene. The transition from the preceding Palaeolithic period to the Jomon period is known to have begun with the appearance of pottery usage. However, knowledge of the genetic background of the Jomon people is still limited. We aimed to determine the population-scale complete mitogenome sequences of the Initial Jomon human remains and compare the occurrence of mitochondrial haplogroups in the Jomon period from temporal and regional perspectives. For human remains dated to 8200–8600 cal BP, we determined their complete mitogenome sequences using target enrichment-coupled next-generation sequencing. We successfully obtained the complete mitogenome sequences with high depth of coverage and high concordance on consensus sequences. These sequences differed by more than three bases each, except for two individuals having completely identical sequences. Co-existence of individuals with haplogroups N9b and M7a was first observed at the same archaeological site from the Initial Jomon period. The genetic diversity within the population was not found to be low even in the Initial Jomon period. [ABSTRACT FROM AUTHOR]
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- 2023
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9. Development of fatigue prediction system for bogie frame using a dynamic analysis model based on high‐speed and high‐precision stress estimation method.
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Yamazaki, Yosuke, Fujimoto, Takahiro, Shimokawa, Yoshiyuki, Minami, Hideki, Kondo, Osamu, Iokibe, Gaku, and Nakagawa, Junichi
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FATIGUE cracks , *STRAINS & stresses (Mechanics) , *FINITE element method , *MODAL analysis , *ACCELERATION (Mechanics) , *FATIGUE life - Abstract
Despite ensuring the integrity of bogie frames for railway vehicles via nondestructive inspections during periodic maintenance, the possibility of fatigue cracks occurring at locations other than the predetermined inspection points cannot be dismissed. Therefore, fatigue cracks can be prevented more efficiently by assessing the overall degree of fatigue damage to the entire bogie frame and determining the results via nondestructive inspections. In this study, dynamic stresses in the bogie frame during running were estimated via finite element dynamic analysis by using the axle box acceleration as input, and the degree of fatigue damage and life were calculated from the waveform of the estimated stresses. Furthermore, we developed a bogie frame fatigue prediction system based on a high‐speed and high‐precision stress calculation method. The developed system visualized the overall relative life. [ABSTRACT FROM AUTHOR]
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- 2024
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10. A study of 8,300-year-old Jomon human remains in Japan using complete mitogenome sequences obtained by next-generation sequencing.
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Mizuno, Fuzuki, Taniguchi, Yasuhiro, Kondo, Osamu, Hayashi, Michiko, Kurosaki, Kunihiko, and Ueda, Shintaroh
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ARCHAEOLOGICAL human remains , *NUCLEOTIDE sequencing , *MITOCHONDRIAL DNA , *NUCLEOTIDE sequence , *FOSSIL DNA - Abstract
Ancient human remains have been assigned to their mitochondrial DNA (mtDNA) haplogroups. To obtain efficiently deep and reliable nucleotide sequences of ancient DNA of interest, we achieved target enrichment followed by next-generation sequencing (NGS). Complete mitochondrial genome (mitogenome) sequences were obtained for three human remains from the Iyai rock-shelter site of the Initial Jomon Period in Japan. All the Jomon mitogenomes belong to haplogroup N9b, but no sequences among them were identical. High genetic diversity was clarified even among the Jomon human remains belonging to haplogroup N9b, which has been described as a haplogroup representing the Jomon people. [ABSTRACT FROM AUTHOR]
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- 2020
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11. Population dynamics in the Japanese Archipelago since the Pleistocene revealed by the complete mitochondrial genome sequences.
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Mizuno, Fuzuki, Gojobori, Jun, Kumagai, Masahiko, Baba, Hisao, Taniguchi, Yasuhiro, Kondo, Osamu, Matsushita, Masami, Matsushita, Takayuki, Matsuda, Fumihiko, Higasa, Koichiro, Hayashi, Michiko, Wang, Li, Kurosaki, Kunihiko, and Ueda, Shintaroh
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POPULATION dynamics , *PLEISTOCENE Epoch , *ACID soils , *MITOCHONDRIAL DNA , *RICE farming - Abstract
The Japanese Archipelago is widely covered with acidic soil made of volcanic ash, an environment which is detrimental to the preservation of ancient biomolecules. More than 10,000 Palaeolithic and Neolithic sites have been discovered nationwide, but few skeletal remains exist and preservation of DNA is poor. Despite these challenging circumstances, we succeeded in obtaining a complete mitogenome (mitochondrial genome) sequence from Palaeolithic human remains. We also obtained those of Neolithic (the hunting-gathering Jomon and the farming Yayoi cultures) remains, and over 2,000 present-day Japanese. The Palaeolithic mitogenome sequence was not found to be a direct ancestor of any of Jomon, Yayoi, and present-day Japanese people. However, it was an ancestral type of haplogroup M, a basal group of the haplogroup M. Therefore, our results indicate continuity in the maternal gene pool from the Palaeolithic to present-day Japanese. We also found that a vast increase of population size happened and has continued since the Yayoi period, characterized with paddy rice farming. It means that the cultural transition, i.e. rice agriculture, had significant impact on the demographic history of Japanese population. [ABSTRACT FROM AUTHOR]
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- 2021
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12. Human bony labyrinth is an indicator of population history and dispersal from Africa.
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Ponce de León, Marcia S., Koesbardiati, Toetik, Weissmann, John David, Milella, Marco, Reyna-Blanco, Carlos S., Suwa, Gen, Kondo, Osamu, Malaspinas, Anna-Sapfo, White, Tim D., and Zollikofer, Christoph P. E.
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INNER ear , *TEMPORAL bone , *PHENOTYPIC plasticity , *MORPHOLOGY , *POPULATION genetics - Abstract
The dispersal of modern humans from Africa is now well documented with genetic data that track population history, as well as gene flow between populations. Phenetic skeletal data' such as cranial and pelvic morphologies, also exhibit a dispersal-from-Africa signal' which, however, tends to be blurred by the effects of local adaptation and in vivo phenotypic plasticity, and that is often deteriorated by postmortem damage to skeletal remains. These complexities raise the question of which skeletal structures most effectively track neutral population history. The cavity system of the inner ear (the so-called bony labyrinth) is a good candidate structure for such analyses. It is already fully formed by birth, which minimizes postnatal phenotypic plasticity, and it is generally well preserved in archaeological samples. Here we use morphometric data of the bony labyrinth to show that it is a surprisingly good marker of the global dispersal of modern humans from Africa. Labyrinthine morphology tracks genetic distances and geography in accordance with an isolation-by-distance model with dispersal from Africa. Our data further indicate that the neutral-like pattern of variation is compatible with stabilizing selection on labyrinth morphology. Given the increasingly important role of the petrous bone for ancient DNA recovery from archaeological specimens, we encourage researchers to acquire 3D morphological data of the inner ear structures before any invasive sampling. Such data will constitute an important archive of phenotypic variation in present and past populations, and will permit individual-based genotype-phenotype comparisons. [ABSTRACT FROM AUTHOR]
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- 2018
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13. Preference for fish in a Neolithic hunter-gatherer community of the upper Tigris, elucidated by amino acid δ15N analysis.
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Itahashi, Yu, Miyake, Yutaka, Maeda, Osamu, Kondo, Osamu, Hongo, Hitomi, Van Neer, Wim, Chikaraishi, Yoshito, Ohkouchi, Naohiko, and Yoneda, Minoru
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HUNTER-gatherer societies , *NEOLITHIC Period , *AMINO acid analysis , *STABLE isotopes - Abstract
We report here the stable nitrogen isotope composition (δ 15 N) of individual amino acids and the δ 15 N and δ 13 C content of collagen from human and faunal remains collected from Hasankeyf Höyük, an early Neolithic site in the upper Tigris valley. Based on the δ 15 N of collagen only, the contributions of freshwater resources to the diet of the hunter-gatherers were difficult to clearly identify relative to terrestrial resources. However, analysis of the nitrogen isotope composition of individual amino acids enabled the identification of minor contributions from freshwater resources to the diet in a community primarily dependent on terrestrial resources. Individual variability suggested that some individuals at Hasankeyf Höyük used freshwater resources, whereas others probably depended primarily on terrestrial food resources. The importance of freshwater resources as food for this hunter-gatherer community was variable among groups and depended on burial location and time of burial. [ABSTRACT FROM AUTHOR]
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- 2017
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14. Automatic extraction of endocranial surfaces from CT images of crania.
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Michikawa, Takashi, Suzuki, Hiromasa, Moriguchi, Masaki, Ogihara, Naomichi, Kondo, Osamu, and Kobayashi, Yasushi
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SKULL , *CRANIAL nerves , *COMPUTED tomography , *IMAGE processing , *PHYSICAL anthropology - Abstract
The authors present a method for extracting polygon data of endocranial surfaces from CT images of human crania. Based on the fact that the endocast is the largest empty space in the crania, we automate a procedure for endocast extraction by integrating several image processing techniques. Given CT images of human crania, the proposed method extracts endocranial surfaces by the following three steps. The first step is binarization in order to fill void structures, such as diploic space and cracks in the skull. We use a void detection method based on mathematical morphology. The second step is watershed-based segmentation of the endocranial part from the binary image of the CT image. Here, we introduce an automatic initial seed assignment method for the endocranial region using the distance field of the binary image. The final step is partial polygonization of the CT images using the segmentation results as mask images. The resulting polygons represent only the endocranial part, and the closed manifold surfaces are computed even though the endocast is not isolated in the cranium. Since only the isovalue threshold and the size of void structures are required, the procedure is not dependent on the experience of the user. The present paper also demonstrates that the proposed method can extract polygon data of endocasts from CT images of various crania. [ABSTRACT FROM AUTHOR]
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- 2017
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15. Secondary neuroendocrine tumor after allogeneic bone marrow transplantation.
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Tamura, Shinichi, Ishida, Hiroyuki, Naito, Takeshi, Kondo, Osamu, Inoue, Masami, Kawa, Keisei, Kawabata, Kenji, Hojo, Hiroshi, Ouchi, Kazutaka, and Imamura, Toshihiko
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NEUROENDOCRINE tumors , *BONE marrow transplantation , *HOMOGRAFTS , *DIAGNOSIS - Abstract
Here we report a case of aggressive neuroendocrine tumor (NET), which is an extremely rare secondary solid tumor that occurs after allogeneic hematopoietic cell transplantation (allo-HSCT). A patient with chronic active Epstein- Barr virus infection received allo-HSCT from an HLA-DR two allele-mismatched unrelated donor. Four years later, he developed NET with multiple metastases. He received thoraco-abdominal irradiation as a conditioning regimen, and developed repeated episodes of intestinal graft-versus-host disease, for which he received long-term immunosuppressive therapy. Although these factors may be potential contributing factors to the development of secondary NET, the exact pathogenesis remains unclear. [ABSTRACT FROM AUTHOR]
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- 2015
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16. Virtual reconstruction of the Neanderthal Amud 1 cranium.
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Amano, Hideki, Kikuchi, Takeo, Morita, Yusuke, Kondo, Osamu, Suzuki, Hiromasa, Ponce de León, Marcia S., Zollikofer, Christoph P.E., Bastir, Markus, Stringer, Chris, and Ogihara, Naomichi
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NEANDERTHALS , *PRIMATE morphology , *SKULL morphology , *SPLINES , *SMOOTHNESS of functions , *CRANIOMETRY , *COMPUTED tomography - Abstract
ABSTRACT Objectives We describe a new computer reconstruction to obtain complete anatomical information of the ecto- and endocranium from the imperfectly preserved skull of the Neanderthal Amud 1. Materials and Methods Data were obtained from computed tomography scans of the fossil cranium. Adhesive and plaster were then virtually removed from the original specimen, and the fragments comprising the fossil cranium were separated. These fragments were then mathematically reassembled based on the smoothness of the joints. Both sides of the cranium were reassembled separately, and then aligned based on bilateral symmetry and the distance between the mandibular fossae obtained from the associated mandible. The position of the isolated maxilla was determined based on the position of the mandible that was anatomically articulated to the mandibular fossae. To restore missing basicranial and damaged endocranial regions, the cranium of Forbes' Quarry 1 was warped onto that of La Chapelle-aux-Saints 1, and the resulting composite Neanderthal cranium was then warped onto the reconstructed Amud 1 by an iterative thin-plate spline deformation. Results Comparison of the computer reconstruction with the original indicated that the newly reconstructed Amud 1 cranium was slightly shorter and wider in the anteroposterior and mediolateral directions, respectively, suggesting that it was relatively more brachycephalic. The endocranial volume was estimated to be 1,736 cm3, which was quite similar to the original estimated value of 1,740 cm3. Discussion This new computer reconstruction enables not only measurement of new cranial metrics, but also inclusion of the Amud 1 specimen in three-dimensional geometric morphometric analyses that were previously difficult due to its incompleteness. Am J Phys Anthropol 158:185-197, 2015. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]
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- 2015
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17. Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
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Tamura, Shinobu, Higuchi, Kohei, Tamaki, Masaharu, Inoue, Chizuko, Awazawa, Ryoko, Mitsuki, Noriko, Nakazawa, Yuka, Mishima, Hiroyuki, Takahashi, Kenzo, Kondo, Osamu, Imai, Kohsuke, Morio, Tomohiro, Ohara, Osamu, Ogi, Tomoo, Furukawa, Fukumi, Inoue, Masami, Yoshiura, Koh-ichiro, and Kanazawa, Nobuo
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PANCYTOPENIA , *IMMUNODEFICIENCY , *DNA ligases , *GENETIC mutation , *T cell receptors , *HEMATOPOIETIC stem cell transplantation - Abstract
We herein describe a case of a 17-year-old boy with intractable common warts, short stature, microcephaly and slowly-progressing pancytopenia. Simultaneous quantification of T-cell receptor recombination excision circles (TREC) and immunoglobulin κ-deleting recombination excision circles (KREC) suggested very poor generation of both T-cells and B-cells. By whole exome sequencing, novel compound heterozygous mutations were identified in the patient's DNA ligase IV ( LIG4 ) gene. The diagnosis of LIG4 syndrome was confirmed by delayed DNA double-strand break repair kinetics in γ-irradiated fibroblasts from the patient and their restoration by an introduction of wild-type LIG4 . Although the patient received allogeneic hematopoietic stem cell transplantation from his haploidentical mother, he unfortunately expired due to an insufficiently reconstructed immune system. An earlier definitive diagnosis using TREC/KREC quantification and whole exome sequencing would thereby allow earlier intervention, which would be essential for improving long-term survival in similar cases with slowly-progressing LIG4 syndrome masked in adolescents. [ABSTRACT FROM AUTHOR]
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- 2015
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18. Feasibility of HLA-Haploidentical Hematopoietic Stem Cell Transplantation With Post-Transplantation Cyclophosphamide for Advanced Pediatric Malignancies.
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Sawada, Akihisa, Shimizu, Mariko, Isaka, Kanako, Higuchi, Kouhei, Mayumi, Azusa, Yoshimoto, Yuri, Kikuchi, Hiroaki, Kondo, Osamu, Koyama-sato, Maho, Yasui, Masahiro, Kawa, Keisei, and Inoue, Masami
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HEMATOPOIETIC stem cell transplantation , *CYCLOPHOSPHAMIDE , *LEUKEMIA in children , *BONE marrow transplantation , *DISEASE remission , *T cells , *LEUKEMIA treatment - Abstract
Background. Patients with advanced malignancies in non-complete remission (CR) have a dismal prognosis after HLA-matched hematopoietic stem cell transplantation (HSCT). T-cell-replete HLA-haploidentical HSCT has remarkable anti-leukemia/tumor effects on these patients, but also a high risk of severe/extensive graft-versus-host disease (GHVD). Post-transplantation cyclophosphamide (PTCY) is regarded as a GVHD-specific immunosuppressant in adults, but its feasibility is unknown in children. Methods. We performed a prospective feasibility study of PTCY at 50 mg/kg on day 3 for children with advanced leukemias or malignant solid tumors: refractory to chemotherapy or relapsed after conventional allogeneic HSCT. Conditioning consisted of fludarabine (180 mg/m2) and melphalan (140-210 mg/m2). Results. Long-term engraftments were achieved in 11 patients (73.3%) after bone marrow transplantation (BMT, n = 13) or peripheral blood (PB) stem cell transplantation ( n = 2). The incidence of severe acute GHVD was 25.0% and that of extensive chronic GVHD 0.0% after evaluable BMT. CR was achieved in 6/15 and partial response in 4/15 as the best response. Finally, 11/15 experienced disease progression/relapse, 2/15 suffered treatment-related mortality without evidence of disease, and 2/15 are alive in continuous CR. Conclusions. PTCY is feasible in children; however, for a better outcome in such patients with advanced malignancies, some modifications are anticipated. [ABSTRACT FROM AUTHOR]
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- 2014
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19. Umbilical Cord Blood as an Alternative Source of Reduced-Intensity Hematopoietic Stem Cell Transplantation for Chronic Epstein-Barr Virus–Associated T or Natural Killer Cell Lymphoproliferative Diseases.
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Sawada, Akihisa, Inoue, Masami, Koyama-Sato, Maho, Kondo, Osamu, Yamada, Kayo, Shimizu, Mariko, Isaka, Kanako, Kimoto, Tomiko, Kikuchi, Hiroaki, Tokimasa, Sadao, Yasui, Masahiro, and Kawa, Keisei
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HEMATOPOIETIC stem cell transplantation , *EPSTEIN-Barr virus , *CORD blood transplantation , *BONE marrow transplantation , *KILLER cells , *LYMPHOPROLIFERATIVE disorders , *T cells - Abstract
Chronic Epstein-Barr virus–associated T/natural killer cell lymphoproliferative diseases represented by chronic active Epstein-Barr virus infection are lethal but are curable with several courses of chemotherapy and allogeneic hematopoietic stem cell transplantation (HSCT). Recently, we reported that reduced-intensity conditioning (RIC) provided better outcomes than myeloablative conditioning because RIC was less toxic. However, it was unclear whether cord blood transplantation (CBT) works in the context of RIC. We retrospectively analyzed 17 patients who underwent RIC followed by bone marrow transplantation (RIC-BMT) and 15 patients who underwent RIC followed by CBT (RIC-CBT). The representative regimen was fludarabine and melphalan based. The overall survival rates with RIC-BMT and RIC-CBT were 92.9% ± 6.9% and 93.3% ± 6.4%, respectively (P = .87). One patient died of lung graft-versus-host disease after RIC-BMT, and 1 patient died of multiple viral infections after RIC-CBT. Although cytotoxic chemotherapy was also immunosuppressive and might contribute to better donor cell engraftment after RIC-HSCT, the rate of engraftment failure after RIC-CBT was still higher than that after RIC-BMT (not significant); however, patients who had experienced graft failure were successfully rescued with a second HSCT. Unrelated cord blood can be an alternative source for RIC-HSCT if a patient has no family donor. [ABSTRACT FROM AUTHOR]
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- 2014
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20. Multiplex polymerase chain reaction for six herpesviruses after hematopoietic stem cell transplantation.
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Sawada, Akihisa, Koyama-Sato, Maho, Yasui, Masahiro, Kondo, Osamu, Ishihara, Takashi, Takeshita, Yasufumi, Okamura, Takayuki, Nishikawa, Masanori, Inoue, Masami, and Kawa, Keisei
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CYTOMEGALOVIRUS diseases , *EPSTEIN-Barr virus diseases , *HEMATOPOIETIC stem cell transplantation , *HERPES simplex , *HERPES zoster , *CASE studies , *HERPESVIRUS diseases , *POLYMERASE chain reaction , *RETROSPECTIVE studies , *EARLY medical intervention , *DIAGNOSIS - Abstract
Background: Herpesviruses cause life-threatening diseases after hematopoietic stem cell transplantation (HSCT). It is necessary that viral diseases are identified early and safely diagnosed. The purpose of this study was to evaluate the efficacy of multiplex polymerase chain reaction (PCR) for qualitative detection of the six herpesviruses simultaneously: herpes simplex virus type 1 and type 2, varicella-zoster virus, cytomegalovirus, Epstein-Barr virus (EBV) and human herpesvirus 6B. Methods: Multiplex PCR was applied to patients with various clinical manifestations including central nervous system, cutaneous and mucosal complications after allogeneic HSCT, and the data were retrospectively analyzed. Results: Patients positive for cytomegalovirus in peripheral blood by multiplex PCR might need pre-emptive treatment, but a positive result for EBV had no specific correlation with EBV-associated post-transplant lymphoproliferative disease, and positive result for human herpesvirus 6B failed to show any clinical significance. The multiplex PCR was safe and helpful to diagnose viral diseases of local regions, for example, the central nervous system, skin and mucosa. Conclusions: It may be worthwhile to survey the six herpesviruses with multiplex PCR after HSCT. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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21. Significance of four MRD markers in MRD-based treatment strategy for childhood acute lymphoblastic leukemia
- Author
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Sawada, Akihisa, Sakata, Naoki, Kishimoto, Tomoko, Higuchi, Banryoku, Koyama, Maho, Kondo, Osamu, Sato, Emiko, Okamura, Takayuki, Yasui, Masahiro, Inoue, Masami, Yoshioka, Akira, and Kawa, Keisei
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LYMPHOBLASTIC leukemia in children , *BIOMARKERS , *POLYMERASE chain reaction , *TUMOR antigens , *GENETIC transcription , *GENE expression , *MESSENGER RNA , *FLOW cytometry , *DIAGNOSIS - Abstract
Abstract: Newly diagnosed children with ALL (n =32) were treated on a protocol incorporating minimal residual disease (MRD)-based treatment decisions. MRD was monitored at 4 time points by semi-quantitative PCR detection of antigen receptor gene rearrangement, flow cytometry, quantitative RT-PCR detection of chimeric gene transcripts and overexpressed WT1 mRNA. Four patients positive for MRD at week 5 were treated with an intensified regimen. Median follow-up was 5.0 years (range 3.8–6.6 years) with a 4-year event-free survival rate of 93.8±4.3%. This MRD-based treatment strategy seems to be highly successful and may improve the outcomes of children with ALL. A large study is warranted. [Copyright &y& Elsevier]
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- 2009
- Full Text
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22. A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors.
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Kimura, Ryosuke, Yamaguchi, Tetsutaro, Takeda, Mayako, Kondo, Osamu, Toma, Takashi, Haneji, Kuniaki, Hanihara, Tsunehiko, Matsukusa, Hirotaka, Kawamura, Shoji, Maki, Koutaro, Osawa, Motoki, Ishida, Hajime, and Oota, Hiroki
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TEETH abnormalities , *INCISORS , *GENETIC polymorphisms , *ECTODERMAL dysplasia , *DENTITION , *DIAGNOSIS - Abstract
Shovel shape of upper incisors is a common characteristic in Asian and Native American populations but is rare or absent in African and European populations. Like other common dental traits, genetic polymorphisms involved in the tooth shoveling have not yet been clarified. In ectodysplasin A receptor (EDAR), where dysfunctional mutations cause hypohidrotic ectodermal dysplasia, there is a nonsynonymous-derived variant, 1540C (rs3827760), that has a geographic distribution similar to that of the tooth shoveling. This allele has been recently reported to be associated with Asian-specific hair thickness. We aimed to clarify whether EDAR 1540C is also associated with dental morphology. For this purpose, we measured crown diameters and tooth-shoveling grades and analyzed the correlations between the dental traits and EDAR genotypes in two Japanese populations, inhabitants around Tokyo and in Sakishima Islands. The number of EDAR 1540C alleles in an individual was strongly correlated with the tooth-shoveling grade (p = 7.7 x 10-10). The effect of the allele was additive and explained 18.9% of the total variance in the shoveling grade, which corresponds to about one-fourth of the heritability of the trait reported previously. For data reduction of individual-level metric data, we applied a principal-component analysis, which yielded PC1-4, corresponding to four patterns of tooth size; this result implies that multiple factors are involved in dental morphology. The 1540C allele also significantly affected PCi (p = 4.9 x 10-3), which denotes overall tooth size, and PC2 (p = 2.6 x 10-3), which denotes the ratio of mesiodistal diameter to buccolingual diameter. [ABSTRACT FROM AUTHOR]
- Published
- 2009
- Full Text
- View/download PDF
23. Neanderthal brain size at birth provides insights into the evolution of human life history.
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Ponce de León, Marcia S., GoIovanova, Lubov, Doronichev, Vladimir, Romanova, Galina, Akazawa, Takeru, Kondo, Osamu, Ishida, Hajime, and Zollikofer, Christoph P. E.
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BRAIN , *HUMAN life cycle , *LIFE history interviews , *CHIMPANZEES , *COGNITIVE development - Abstract
From birth to adulthood, the human brain expands by a factor of 3.3, compared with 2.5 in chimpanzees [DeSilva J and Lesnik (2006) Chimpanzee neonatal brain size: Implications for brain growth in Homo erectus. J Hum Evol 51: 207-212]. How the required extra amount of human brain growth is achieved and what its implications are for human life history and cognitive development are still a matter of debate. Likewise, because comparative fossil evidence is scarce, when and how the modern human pattern of brain growth arose during evolution is largely unknown. Virtual reconstructions of a Neanderthal neonate from Mezmaiskaya Cave (Russia) and of two Neanderthal infant skeletons from Dederiyeh Cave (Syria) now provide new comparative insights: Neanderthal brain size at birth was similar to that in recent Homo sapiens and most likely subject to similar obstetric constraints. Neanderthal brain growth rates during early infancy were higher, however. This pattern of growth resulted in larger adult brain sizes but not in earlier completion of brain growth. Because large brains growing at high rates require large, late-maturing, mothers [Leigh SR and Blomquist GE (2007) in Campbell CJ et al. Primates in perspective; pp 396-407], it is likely that Neanderthal life history was similarly slow, or even slower-paced, than in recent H. sapiens. [ABSTRACT FROM AUTHOR]
- Published
- 2008
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24. Ancient Jomon genome sequence analysis sheds light on migration patterns of early East Asian populations.
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Gakuhari, Takashi, Nakagome, Shigeki, Rasmussen, Simon, Allentoft, Morten E., Sato, Takehiro, Korneliussen, Thorfinn, Chuinneagáin, Blánaid Ní, Matsumae, Hiromi, Koganebuchi, Kae, Schmidt, Ryan, Mizushima, Souichiro, Kondo, Osamu, Shigehara, Nobuo, Yoneda, Minoru, Kimura, Ryosuke, Ishida, Hajime, Masuyama, Tadayuki, Yamada, Yasuhiro, Tajima, Atsushi, and Shibata, Hiroki
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GENOMES , *EMIGRATION & immigration , *PHYLOGENY , *IMMIGRANTS - Abstract
Anatomically modern humans reached East Asia more than 40,000 years ago. However, key questions still remain unanswered with regard to the route(s) and the number of wave(s) in the dispersal into East Eurasia. Ancient genomes at the edge of the region may elucidate a more detailed picture of the peopling of East Eurasia. Here, we analyze the whole-genome sequence of a 2,500-year-old individual (IK002) from the main-island of Japan that is characterized with a typical Jomon culture. The phylogenetic analyses support multiple waves of migration, with IK002 forming a basal lineage to the East and Northeast Asian genomes examined, likely representing some of the earliest-wave migrants who went north from Southeast Asia to East Asia. Furthermore, IK002 shows strong genetic affinity with the indigenous Taiwan aborigines, which may support a coastal route of the Jomon-ancestry migration. This study highlights the power of ancient genomics to provide new insights into the complex history of human migration into East Eurasia. Takashi Gakuhari, Shigeki Nakagome et al. report the genomic analysis on a 2.5 kya individual from the ancient Jomon culture in present-day Japan. Phylogenetic analysis with comparison to other Eurasian sequences suggests early migration patterns in Asia and provides insight into the genetic affinities between peoples of the region. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
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