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1.
Sci Rep ; 14(1): 5938, 2024 03 11.
Artigo em Inglês | MEDLINE | ID: mdl-38467689

RESUMO

Detailed investigation of extremely severe pathological conditions in ancient human skeletons is important as it could shed light on the breadth of potential interactions between humans and disease etiologies in the past. Here, we applied palaeoproteomics to investigate an ancient human skeletal individual with severe oral pathology, focusing our research on bacterial pathogenic factors and host defense response. This female skeleton, from the Okhotsk period (i.e., fifth to thirteenth century) of Northern Japan, poses relevant amounts of abnormal dental calculus deposition and exhibits oral dysfunction due to severe periodontal disease. A shotgun mass-spectrometry analysis identified 81 human proteins and 15 bacterial proteins from the calculus of the subject. We identified two pathogenic or bioinvasive proteins originating from two of the three "red complex" bacteria, the core species associated with severe periodontal disease in modern humans, as well as two additional bioinvasive proteins of periodontal-associated bacteria. Moreover, we discovered defense response system-associated human proteins, although their proportion was mostly similar to those reported in ancient and modern human individuals with lower calculus deposition. These results suggest that the bacterial etiology was similar and the host defense response was not necessarily more intense in ancient individuals with significant amounts of abnormal dental calculus deposition.


Assuntos
Cálculos Dentários , Periodontite , Humanos , Feminino , Bactérias , Proteínas de Bactérias , Esqueleto
2.
J Hum Genet ; 68(11): 759-767, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37468573

RESUMO

The Ryukyu Islands are located in the southernmost part of the Japanese Archipelago and consist of several island groups. Each island group has its own history and culture, which differ from those of mainland Japan. People of the Ryukyu Islands are genetically subdivided; however, their detailed demographic history remains unclear. We report the results of a whole-genome sequencing analysis of a total of 50 Ryukyu islanders, focusing on genetic differentiation between Miyako and Okinawa islanders. We confirmed that Miyako and Okinawa islanders cluster differently in principal component analysis and ADMIXTURE analysis and that there is a population structure among Miyako islanders. The present study supports the hypothesis that population differentiation is primarily caused by genetic drift rather than by differences in the rate of migration from surrounding regions, such as the Japanese main islands or Taiwan. In addition, the genetic cline observed among Miyako and Okinawa islanders can be explained by recurrent migration beyond the bounds of these islands. Our analysis also suggested that the presence of multiple subpopulations during the Neolithic Ryukyu Jomon period is not crucial to explain the modern Ryukyu populations. However, the assumption of multiple subpopulations during the time of admixture with mainland Japanese is necessary to explain the modern Ryukyu populations. Our findings add insights that could help clarify the complex history of populations in the Ryukyu Islands.


Assuntos
População do Leste Asiático , Deriva Genética , Humanos , Japão/epidemiologia , Genoma , Demografia
3.
PLoS One ; 18(3): e0283636, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36989318

RESUMO

Cortical bone thickness is important for the mechanical function of bone. Ontogeny, aging, sex, body size, hormone levels, diet, behavior, and genetics potentially cause variations in postcranial cortical robusticity. However, the factors associated with cranial cortical robusticity remain poorly understood. Few studies have examined cortical robusticity in both cranial and postcranial bones jointly. In the present study, we used computed tomography (CT) images to measure cortical bone thicknesses in the cranial vault and humeral diaphysis. This study clearly showed that females have a greater cranial vault thickness and greater age-related increase in cranial vault thickness than males. We found an age-related increase in the full thickness of the temporal cranial vault and the width of the humeral diaphysis, as well as an age-related decrease in the cortical thickness of the frontal cranial vault and the cortical thickness of the humeral diaphysis, suggesting that the mechanisms of bone modeling in cranial and long bones are similar. A positive correlation between cortical indices in the cranial vault and humeral diaphysis also suggested that common factors affect cortical robusticity. We also examined the association of polymorphisms in the WNT16 and TNFSF11 genes with bone thickness. However, no significant associations were observed. The present study provides fundamental knowledge about similarities and differences in the mechanisms of bone modeling between cranial and postcranial bones.


Assuntos
Osso Cortical , Crânio , Masculino , Feminino , Humanos , Crânio/diagnóstico por imagem , Diáfises , Úmero/diagnóstico por imagem
4.
Sci Rep ; 12(1): 17292, 2022 10 14.
Artigo em Inglês | MEDLINE | ID: mdl-36241691

RESUMO

Numerous studies have revealed distinct differences in the profiles of gut microbiota between non-obese and obese individuals. To date, however, little is known if any disparities in the community of gut microbiota exist between metabolically healthy obese (MHO) and metabolically unhealthy obese (MUO) subjects. We therefore aimed to comprehensively characterize the gut microbiota and circulating metabolites in serum from both MHO and MUO residing in the remote island, Kumejima, where the prevalence of obesity is one of the highest in Japan, and explored possible correlations between the gut microbiota profile and markers of metabolic syndrome. Results revealed that MUO showed significantly higher levels of genera such as g_Succinivibrio, g_Granulicatella, g_Brachyspira, g_Oribacterium and g_Atopobium in comparison to MHO. Moreover, abundance of g_Succinivibrio, g_Brachyspira and g_Atopobium were positively correlated with value of fasting insulin, HOMA-R, circulating triglycerides, diastolic blood pressure, BMI, body weight, waist circumference and HbA1c. In addition, MUO compared to MHO showed an imbalance of serum metabolites, with a significant elevation in 2-oxoisovaleric acid, pyruvic acid, 2-hydroxybutyric acid, and creatine. Our data highlight unmet needs in precision approaches for the treatment of obesity, targeting the gut microbiota profile and serum metabolites in a distinct population affected by obesity.


Assuntos
Microbioma Gastrointestinal , Insulinas , Síndrome Metabólica , Índice de Massa Corporal , Creatina , Hemoglobinas Glicadas , Humanos , Japão/epidemiologia , Síndrome Metabólica/metabolismo , Obesidade/metabolismo , Ácido Pirúvico , Triglicerídeos
5.
Int J Paleopathol ; 38: 107-114, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35908506

RESUMO

OBJECTIVES: We report here a stingray spine (Dasyatidae) found embedded in the femur of a male skeleton from the archaeological site of Uedomari-5, Rebun Island, Hokkaido, Japan. MATERIALS: A single well-preserved but incomplete human skeleton. METHODS: Macroscopic observation and low power magnification, CT imaging, radiocarbon dating and stable isotope (carbon, nitrogen) analysis. RESULTS: The stingray spine is tentatively identified as Bathytoshia brevicaudata. CT imaging shows no healing, indicating that death occurred shortly afterwards. The skeleton has been directly radiocarbon dated to the Okhotsk period (cal AD 429-827), with δ13C (-13.7‰) and δ15N (19.3‰) values indicating a diet focused on marine foods. CONCLUSIONS: The absence of healing in what would have been a non-lethal injury strongly suggests that the spine tipped an arrowhead, rather than being the result of an accidental encounter with a living stingray. It is possible that the injury reflects a period of increased conflict coinciding with, or following on from, the expansion of the Okhotsk culture from Sakhalin into northern Hokkaido. SIGNIFICANCE: Uedomari-5 provides the first example, to our knowledge, of a stingray spine directly embedded in human bone at an archaeological site. More widely, the finding contributes to our knowledge of conflict in northern hunter-gatherer communities. LIMITATIONS: Given the early excavation date (1949-50), there is little contextual information available for the burials. SUGGESTIONS FOR FURTHER RESEARCH: ZooMS (Zooarchaeology by Mass Spectrometry) may be able to identify the stingray species. Archival research may provide more information concerning the excavations at Uedomari-5.


Assuntos
Rajidae , Adulto , Animais , Arqueologia , Osso e Ossos , Humanos , Japão , Masculino , Datação Radiométrica
6.
Biomed Res Int ; 2022: 2069063, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35711519

RESUMO

A morphological analysis of ancient human bones is essential for understanding life history, medical history, and genetic characteristics. In addition to external measurements, a three-dimensional structural analysis using CT will provide more detailed information. The present study examined adult male human skeletons excavated from Hegi cave, Nakatsu city, Oita Prefecture. CT images were taken from the femurs of adult males (Initial/Early Jomon Period (n = 10) and Late Jomon Period (n = 5)). Cross-sectional images of the diaphysis from below the lesser trochanter to above the adductor tubercle were obtained using the method established by Imamura et al. (2019) and Imamura et al. (2021). Using Excel formulas and macros, the area of cortical bone, thickness, and degree of curvature were quantitatively analyzed. The results were compared with data on modern Japanese. The maximum thickness of cortical bone in the diaphysis and the degree of the anterior curvature were significantly greater in Late Jomon humans than in the other groups. In contrast to modern humans, the majority of Jomon femurs showed the S-shaped curvature with the medial side at the top position and the lateral side at the lower position. The present results demonstrate that Late Jomon humans had a wider range of activity than the other groups and also provide insights into diseases in the hip and knee joints of Jomon humans.


Assuntos
Diáfises , Fêmur , Adulto , Osso e Ossos , Diáfises/diagnóstico por imagem , Fêmur/diagnóstico por imagem , Humanos , Japão , Masculino , Tomografia Computadorizada por Raios X
7.
Metabolites ; 12(5)2022 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-35629972

RESUMO

(1) Background: Evidence has accumulated regarding the etiology of lower urinary tract symptoms associated with obesity and metabolic syndrome. Therefore, the present study aimed to identify which subjectively and objectively measured voiding parameters were associated with obesity in a community-based population. (2) Methods: Voiding parameters on a self-administered questionnaire and a digital self-health monitoring system for urine excretion (s-HMSU) were compared between participants with and without obesity, defined as a body mass index ≥ 25 kg/m2 (n = 30 and 29, respectively), from a community in Okinawa, Japan. Logistic regression analysis was employed to calculate the odds ratios of abnormalities in voiding parameters for the obese group, with the non-obese group serving as a reference. (3) Results: The obese group had odds ratios of 5.17 (95% confidence interval: 1.33−20.0) for shortened hours of undisturbed sleep (<302 min) by s-HMSU and 7.65 (1.88−31.1) for nighttime urinary frequency by a questionnaire after adjusting for age and sex. In addition, the obese group had an adjusted odds ratio of 2.27 (0.76−6.78) for decreased maximum bladder capacity (<212 mL) by s-HMSU. (4) Conclusion: the results of the present study suggest that nocturia and shortened hours of undisturbed sleep are signs of obesity.

8.
Nature ; 599(7886): 616-621, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34759322

RESUMO

The origin and early dispersal of speakers of Transeurasian languages-that is, Japanese, Korean, Tungusic, Mongolic and Turkic-is among the most disputed issues of Eurasian population history1-3. A key problem is the relationship between linguistic dispersals, agricultural expansions and population movements4,5. Here we address this question by 'triangulating' genetics, archaeology and linguistics in a unified perspective. We report wide-ranging datasets from these disciplines, including a comprehensive Transeurasian agropastoral and basic vocabulary; an archaeological database of 255 Neolithic-Bronze Age sites from Northeast Asia; and a collection of ancient genomes from Korea, the Ryukyu islands and early cereal farmers in Japan, complementing previously published genomes from East Asia. Challenging the traditional 'pastoralist hypothesis'6-8, we show that the common ancestry and primary dispersals of Transeurasian languages can be traced back to the first farmers moving across Northeast Asia from the Early Neolithic onwards, but that this shared heritage has been masked by extensive cultural interaction since the Bronze Age. As well as marking considerable progress in the three individual disciplines, by combining their converging evidence we show that the early spread of Transeurasian speakers was driven by agriculture.


Assuntos
Agricultura/história , Arqueologia , Genética Populacional , Migração Humana/história , Idioma/história , Linguística , China , Conjuntos de Dados como Assunto , Mapeamento Geográfico , História Antiga , Humanos , Japão , Coreia (Geográfico) , Mongólia
9.
Genome Biol Evol ; 13(9)2021 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-34410389

RESUMO

Recent studies on paleogenomics have reported some Paleolithic and Neolithic genomes that have provided new insights into the human population history in East and Northeast Asia. However, there remain some cases where more recent migration events need to be examined to elucidate the detailed formation process of local populations. Although the area around northern Japan is one of the regions archaeologically suggested to have been affected by migration waves after the Neolithic period, the genetic source of these migrations are still unclear. Thus, genomic data from such past migrant populations would be highly informative to clarify the detailed formation process of local populations in this region. Here, we report the genome sequence of a 900-year-old adult female (NAT002) belonging to the prehistoric Okhotsk people, who have been considered to be the past migrants to northern Japan after the Neolithic period. We found a close relationship between NAT002 and modern Lower Amur populations and past admixture events between the Amur, Jomon, and Kamchatka ancestries. The admixture dating suggested migration of Amur-related ancestry at approximately 1,600 BP, which is compatible with the archaeological evidence regarding the settlement of the Okhotsk people. Our results also imply migration of Kamchatka-related ancestry at approximately 2,000 BP. In addition, human leukocyte antigen (HLA) typing detected the HLA-B*40 allele, which is reported to increase the risk of arthritis, suggesting the genetic vulnerability of NAT002 to hyperostosis, which was observed around her chest clavicle.


Assuntos
Genoma Humano , Genômica , Ásia Oriental , Feminino , Migração Humana , Humanos , Japão , Paleontologia , Esqueleto
10.
Ann Hum Genet ; 85(5): 166-177, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34013582

RESUMO

BACKGROUND: Ring finger protein 213 (RNF213) is a susceptibility gene of moyamoya disease (MMD). A previous case-control study and a family analysis demonstrated a strong association of the East Asian-specific variant, R4810K (rs112735431), with MMD. Our aim is to uncover evolutionary history of R4810K in East Asian populations. METHODS: The RNF213 locus of 24 MMD patients in Japan were sequenced using targeted-capture sequencing. Based on the sequence data, we conducted population genetic analysis and estimated the age of R4810K using coalescent simulation. RESULTS: The diversity of the RNF213 gene was higher in Africans than non-Africans, which can be explained by bottleneck effect of the out-of-Africa migration. Coalescent simulation showed that the risk variant was born in East Asia 14,500-5100 years ago and came to the Japanese archipelago afterward, probably in the period when the known migration based on archaeological evidences occurred. CONCLUSIONS: Although clinical data show that the symptoms varies, all sequences harboring the risk allele are almost identical with a small number of exceptions, suggesting the MMD phenotypes are unaffected by the variants of this gene and rather would be more affected by environmental factors.


Assuntos
Adenosina Trifosfatases/genética , Doença de Moyamoya/genética , Ubiquitina-Proteína Ligases/genética , Alelos , Evolução Molecular , Frequência do Gene , Genética Populacional , Haplótipos , Humanos , Japão , Desequilíbrio de Ligação
11.
Int Urol Nephrol ; 53(8): 1497-1505, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33909235

RESUMO

PURPOSE: To evaluate the effect of a mobile digital intervention on voiding patterns, we performed 24-h voided volume monitoring in individuals with metabolic disorders. METHODS: Participants with metabolic disorders were grouped into either the intervention group (n = 17), who had access to a smartphone app (CARADA), or the non-intervention group (n = 11), who did not. Urine monitoring was conducted for 24 h using a novel digital self-health monitoring system for urine excretion (s-HMSU). Body weight, abdominal circumference, blood pressure, and biomarkers were measured. RESULTS: Physical findings and blood test results at baseline and 6 months indicated no significant between-group differences. Night-time frequency did not change between baseline and 6 months in the intervention group but significantly worsened at 6 months in the non-intervention group, as compared to baseline (1.0 ± 0.7 vs. 1.5 ± 0.5, p < 0.05). The change in night-time frequency over 6 months did not differ between the intervention and non-intervention groups. Furthermore, the change in hours of undisturbed sleep over 6 months did not differ between the two groups. However, compared with baseline, nocturnal polyuria index tended to worsen at 6 months in the non-intervention group. CONCLUSION: Our study results suggest that mobile digital intervention might be useful for behavioral therapy to improve night-time frequency and urine production and that s-HMSU might be beneficial for confirming the prevention of progress in individuals with metabolic disorders, which can aid in modifying lifestyle.


Assuntos
Exercício Físico , Doenças Metabólicas/fisiopatologia , Aplicativos Móveis , Micção , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica/métodos , Noctúria/fisiopatologia , Estudos Prospectivos , Urina
12.
Sci Rep ; 11(1): 5143, 2021 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-33664401

RESUMO

Morphological variations in human teeth have long been recognized and, in particular, the spatial and temporal distribution of two patterns of dental features in Asia, i.e., Sinodonty and Sundadonty, have contributed to our understanding of the human migration history. However, the molecular mechanisms underlying such dental variations have not yet been completely elucidated. Recent studies have clarified that a nonsynonymous variant in the ectodysplasin A receptor gene (EDAR 370V/A; rs3827760) contributes to crown traits related to Sinodonty. In this study, we examined the association between the EDAR polymorphism and tooth root traits by using computed tomography images and identified that the effects of the EDAR variant on the number and shape of roots differed depending on the tooth type. In addition, to better understand tooth root morphogenesis, a computational analysis for patterns of tooth roots was performed, assuming a reaction-diffusion system. The computational study suggested that the complicated effects of the EDAR polymorphism could be explained when it is considered that EDAR modifies the syntheses of multiple related molecules working in the reaction-diffusion dynamics. In this study, we shed light on the molecular mechanisms of tooth root morphogenesis, which are less understood in comparison to those of tooth crown morphogenesis.


Assuntos
Receptor Edar/genética , Odontogênese/genética , Raiz Dentária/anatomia & histologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Coroa do Dente/anatomia & histologia , Coroa do Dente/metabolismo , Raiz Dentária/metabolismo , Adulto Jovem
13.
Mol Biol Evol ; 38(5): 2045-2056, 2021 05 04.
Artigo em Inglês | MEDLINE | ID: mdl-33432348

RESUMO

The Ryukyu Archipelago is located in the southwest of the Japanese islands and is composed of dozens of islands, grouped into the Miyako Islands, Yaeyama Islands, and Okinawa Islands. Based on the results of principal component analysis on genome-wide single-nucleotide polymorphisms, genetic differentiation was observed among the island groups of the Ryukyu Archipelago. However, a detailed population structure analysis of the Ryukyu Archipelago has not yet been completed. We obtained genomic DNA samples from 1,240 individuals living in the Miyako Islands, and we genotyped 665,326 single-nucleotide polymorphisms to infer population history within the Miyako Islands, including Miyakojima, Irabu, and Ikema islands. The haplotype-based analysis showed that populations in the Miyako Islands were divided into three subpopulations located on Miyakojima northeast, Miyakojima southwest, and Irabu/Ikema. The results of haplotype sharing and the D statistics analyses showed that the Irabu/Ikema subpopulation received gene flows different from those of the Miyakojima subpopulations, which may be related with the historically attested immigration during the Gusuku period (900 - 500 BP). A coalescent-based demographic inference suggests that the Irabu/Ikema population firstly split away from the ancestral Ryukyu population about 41 generations ago, followed by a split of the Miyako southwest population from the ancestral Ryukyu population (about 16 generations ago), and the differentiation of the ancestral Ryukyu population into two populations (Miyako northeast and Okinawajima populations) about seven generations ago. Such genetic information is useful for explaining the population history of modern Miyako people and must be taken into account when performing disease association studies.


Assuntos
Fluxo Gênico , Genoma Humano , Migração Humana , Humanos , Ilhas , Japão , Polimorfismo de Nucleotídeo Único
14.
Sci Adv ; 6(41)2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33028520

RESUMO

Ontogenetic studies provide clues for understanding important paleobiological aspects of extinct species. When compared to that of modern humans, the adult Neanderthal thorax was shorter, deeper, and wider. This is related to the wide Neanderthal body and is consistent with their hypothetical large requirements for energy and oxygen. Whether these differences were already established at birth or appeared later during development is unknown. To delve into this question, we use virtual reconstruction tools and geometric morphometrics to recover the 3D morphology of the ribcages of four Neanderthal individuals from birth to around 3 years old: Mezmaiskaya 1, Le Moustier 2, Dederiyeh 1, and Roc de Marsal. Our results indicate that the comparatively deep and short ribcage of the Neanderthals was already present at birth, as were other skeletal species-specific traits. This morphology possibly represents the plesiomorphic condition shared with Homo erectus, and it is likely linked to large energetic requirements.

15.
Commun Biol ; 3(1): 437, 2020 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-32843717

RESUMO

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.


Assuntos
Povo Asiático/genética , Genoma Humano , Migração Humana , Análise de Sequência de DNA , Sequência de Bases , DNA Antigo/análise , Ásia Oriental , Humanos , Estatística como Assunto
16.
Int J Paleopathol ; 26: 145-156, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30940508

RESUMO

OBJECTIVE: To test the hypothesis that the "Little Ice Age" (LIA) (in Japan, ˜1440 - 1730 CE) co-occurred with unique age-at-death patterns. MATERIALS: 810 adult human skeletons from the early Medieval Period (EMP) of Japan, which are contemporaneous with the Medieval Warm Period (10th - mid 13th century AD), and the late Medieval Period (LMP) and Edo Period, which are contemporary with the LIA. METHODS: Age at death and sex was determined for each skeleton and demographic profiles of the Yayoi Period (5th century BC - 3rd century AD), EMP, LMP, and Edo site samples were compared. Paleopathological data from previously published reports were evaluated. RESULTS: The EMP had the highest mortality among young adults. Longevity increased in the samples (LMP and Edo) contemporaneous with the LIA. CONCLUSIONS: EMP early age-at-death was the result of poor community health, violent death, and frequent large-scale natural catastrophes. The LMP and Edo Period samples have an older age-at-death pattern and higher frequency of stress markers, argued to be a consequence of a colder climate. SIGNIFICANCE: This study is the first to synthesize paleodemographic and paleopathological data on a large scale to assess the possible effects of the Little Ice Age in Japan. LIMITATIONS: Varying skeletal preservation and focus on adult skeletons reduces the ability to evaluate health throughout the life span. SUGGESTIONS FOR FURTHER RESEARCH: Analysis of nonadult remains and multiple health indicators will likely shed more light on the effects of the Little Ice Age in Japan.


Assuntos
Causas de Morte , Mudança Climática/história , Clima Frio/efeitos adversos , Paleopatologia , Adolescente , Adulto , Mudança Climática/mortalidade , Demografia , Feminino , História Medieval , Humanos , Japão , Masculino , Adulto Jovem
17.
Neurourol Urodyn ; 38(4): 1106-1110, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30848839

RESUMO

AIM: To validate a novel digital health monitoring system to measure the volume of voided urine. METHODS: Micturition volume was calculated using our novel digital self-health monitoring system of urine excretion (s-HMSU) in 18 participants (16 women and 2 men; average age, 40.8 years), without a history of voiding symptoms. Participants completed a self-reported questionnaire regarding their medical history and water intake during the period of observation, as well as the Core Lower Urinary Tract Symptom Score (CLSS) questionnaire. To assess the reliability of the voided volumes measured using the s-HMSU, the intraclass correlation coefficient (ICC) was calculated between the volume and the change in body weight before and after micturition. RESULTS: The CLSS questionnaire confirmed the absence of urinary system diseases in all participants. The medical history was also negative with the exception of hypertension in one participant. The ICC (1,1) between the measured volume of urine excretion using the s-HMSU and the change in body weight was 0.972 (95% confidence interval, 0.957-0.982). CONCLUSIONS: The s-HMSU system provides a reliable measure of voiding volume and is appropriate for home use. It has the potential to facilitate large-scale clinical research to examine the relationship between medical diseases and voiding dysfunction.


Assuntos
Sintomas do Trato Urinário Inferior/diagnóstico , Bexiga Urinária/fisiologia , Micção/fisiologia , Adulto , Testes Diagnósticos de Rotina , Feminino , Humanos , Sintomas do Trato Urinário Inferior/fisiopatologia , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Inquéritos e Questionários , Urina
18.
Science ; 361(6397): 88-92, 2018 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-29976827

RESUMO

The human occupation history of Southeast Asia (SEA) remains heavily debated. Current evidence suggests that SEA was occupied by Hòabìnhian hunter-gatherers until ~4000 years ago, when farming economies developed and expanded, restricting foraging groups to remote habitats. Some argue that agricultural development was indigenous; others favor the "two-layer" hypothesis that posits a southward expansion of farmers giving rise to present-day Southeast Asian genetic diversity. By sequencing 26 ancient human genomes (25 from SEA, 1 Japanese Jomon), we show that neither interpretation fits the complexity of Southeast Asian history: Both Hòabìnhian hunter-gatherers and East Asian farmers contributed to current Southeast Asian diversity, with further migrations affecting island SEA and Vietnam. Our results help resolve one of the long-standing controversies in Southeast Asian prehistory.


Assuntos
Genoma Humano , Migração Humana/história , Sudeste Asiático , Povo Asiático/genética , DNA Antigo , Variação Genética , História Antiga , Humanos , População/genética , Análise de Sequência de DNA
19.
J Hum Genet ; 63(8): 901-909, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29872111

RESUMO

The fibroblast growth factor receptor 1 (FGFR1) gene plays an important role in craniofacial morphogenesis. In our previous study, an association between FGFR1 single nucleotide polymorphisms (SNPs) and craniofacial morphology was demonstrated in Japanese and Korean subjects. The present study aimed to evaluate the relationship between a common FGFR1 SNP (rs13317) with craniofacial morphology, increasing the number of measurements and examining Egyptian subjects (n = 191) in addition to the Japanese (n = 211) and Korean (n = 226) subjects. Genotyping for rs13317 was performed using the TaqMan assay, and its associations with 81 craniofacial measurements derived from lateral and posteroanterior cephalograms were analyzed by multiple regression analysis controlling sex and facial size. The results from each of the populations were then statistically combined. In the Egyptian subjects, rs13317 was significantly associated with the nasion-orbitale depth (P = 0.00040), and a suggestive association was also observed in the Japanese (P = 0.037) and Korean subjects (P = 0.045). The combined analysis revealed that only the nasion-orbitale depth showed a significant association (P = 0.000062) and that several measurements showed a suggestive association. Our results strongly indicate that rs13317 is associated with a smaller depth between the nasion and orbitale, representing a relative protrusion of the cheekbones and retrusion of the nasal root. A similar characteristic is also observed in individuals with Pfeiffer syndrome, which is caused by a dysfunctional FGFR1 mutation.


Assuntos
Cefalometria , Face/anatomia & histologia , Estudos de Associação Genética , Processamento de Imagem Assistida por Computador , Polimorfismo de Nucleotídeo Único/genética , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Crânio/anatomia & histologia , Adolescente , Adulto , Pontos de Referência Anatômicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Adulto Jovem
20.
Surg Today ; 48(3): 346-351, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28948403

RESUMO

PURPOSE: To safely perform lymphadenectomy in the sub-aortic arch area during esophagectomy for esophageal cancer, we investigated the spatial relationships between the bronchial arteries (BAs) and the left recurrent laryngeal nerve (LRLN). METHODS: For this macro-anatomical study, 72 cadavers were used. RESULTS: Of the 195 dissected BAs, 15 (7.7%) arteries ran dorsally across the LRLN. Such a running pattern of the BA was found in 15 (20.8%) of the 72 cadavers. Fourteen (93.3%) of the 15 arteries ran anteriorly along the left side of the esophagus, and 13 (86.7%) passed further to the lateral side of the left main bronchus to reach the ventral surface of the tracheobronchus; we named this running pattern "Type III". Of the 51 arteries with the Type III pattern, 25.5% ran across the dorsal side of the LRLN. CONCLUSION: Approximately 20% of the cadavers had BAs running dorsally to the LRLN in the sub-aortic arch area. Most of these arteries had the Type III pattern. One-quarter of the BAs with the Type III pattern showed this running pattern. Care must be practiced to safely perform lymphadenectomy for esophageal cancer in patients with Type III BAs.


Assuntos
Aorta Torácica/inervação , Artérias Brônquicas/anatomia & histologia , Nervo Laríngeo Recorrente/anatomia & histologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cadáver , Neoplasias Esofágicas/cirurgia , Esofagectomia , Feminino , Humanos , Excisão de Linfonodo , Masculino , Pessoa de Meia-Idade
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