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1.
Hernia ; 27(5): 1131-1138, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-36595086

RESUMEN

PURPOSE: This study aimed to compare perioperative outcomes of robotic and laparoscopic transabdominal peritoneal repair (TAPP) for unilateral inguinal hernia. METHODS: This single institutional retrospective cohort study used de-identified data of patients who underwent robotic TAPP (R-TAPP) or laparoscopic TAPP (L-TAPP) for unilateral inguinal hernia between January 1, 2016 and October 31, 2021. Two cohorts were propensity matched, and data were analyzed. The learning curve was evaluated in the R-TAPP group. RESULTS: Among 938 patients analyzed, 704 were included. After propensity-score matching, 80 patients were included in each group. The difference in operative time between R-TAPP and L-TAPP groups was 10 min (99.5 and 89.5 min, p = 0.087); however, console/laparoscopic time was similar (67 and 66 min, p = 0.71). The dissection time for medial-type hernia in the R-TAPP group was marginally shorter than that in the L-TAPP group (17 and 27 min, p = 0.056); however, there was no difference for lateral-type hernia (38.5 and 40 min p = 0.37). Perioperative variables, including estimated blood loss, postoperative hospital stay, and postoperative pain, had no significant difference, and chronic pain, which needed medication or intervention, was not observed in each group. The number of cases needed to achieve plateau performance was 7-10 in the R-TAPP group. CONCLUSION: This study suggests that R-TAPP was safely introduced, and its perioperative outcomes were not inferior to those of L-TAPP. A shorter dissection time for medial-type hernia might be due to the robot's advantages, and a fast-learning curve could help with the early standardization of the procedure.


Asunto(s)
Hernia Inguinal , Laparoscopía , Procedimientos Quirúrgicos Robotizados , Robótica , Humanos , Hernia Inguinal/cirugía , Procedimientos Quirúrgicos Robotizados/efectos adversos , Procedimientos Quirúrgicos Robotizados/métodos , Estudios Retrospectivos , Herniorrafia/efectos adversos , Herniorrafia/métodos , Laparoscopía/métodos , Resultado del Tratamiento
2.
Nat Microbiol ; 7(6): 810-819, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35618773

RESUMEN

Animals and microorganisms often establish close ecological relationships. However, much of our knowledge about animal microbiomes comes from two deeply studied groups: vertebrates and arthropods. To understand interactions on a broader scale of diversity, we characterized the bacterial microbiomes of close to 1,000 microscopic marine invertebrates from 21 phyla, spanning most of the remaining tree of metazoans. Samples were collected from five temperate and tropical locations covering three marine habitats (sediment, water column and intertidal macroalgae) and bacterial microbiomes were characterized using 16S ribosomal RNA gene sequencing. Our data show that, despite their size, these animals harbour bacterial communities that differ from those in the surrounding environment. Distantly related but coexisting invertebrates tend to share many of the same bacteria, suggesting that guilds of microorganisms preferentially associated with animals, but not tied to any specific host lineage, are the main drivers of the ecological relationship. Host identity is a minor factor shaping these microbiomes, which do not show the same correlation with host phylogeny, or 'phylosymbiosis', observed in many large animals. Hence, the current debate on the varying strength of phylosymbiosis within selected lineages should be reframed to account for the possibility that such a pattern might be the exception rather than the rule.


Asunto(s)
Microbiota , Animales , Bacterias/genética , Microbiota/genética , Filogenia , Vertebrados
3.
Public Health ; 185: 80-86, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32574872

RESUMEN

OBJECTIVES: Family caregiver burden is associated with higher psychological distress. However, little is known about the impact of neighbourhood relationships on caregivers' psychological distress. We examined whether neighbourhood relationships of caregivers moderate the association between family caregiver burden and psychological distress. STUDY DESIGN: This was a cross-sectional study. METHODS: We recruited 5321 Japanese adults who participated in the Japan Multi-Institutional Collaborative Cohort Study in the Okazaki area between 2013 and 2017. Participants completed self-reported questionnaires to measure psychological distress (Kessler 6: K6), subjective caregiver burden, and neighbourhood relationships. We performed a multivariable linear regression analysis in which caregiver burden was designated as an independent variable and the K6 score as a dependent variable, adjusting for demographics. The interaction term between caregiver burden and neighbourhood relationships was also included in the analysis. RESULTS: Data from a total of 5069 participants were included (mean age [standard deviation]: 63.1 years [10.3 years]; 2226 [43.9%] female). Caregiver burden was significantly and positively associated with psychological distress (compared with no burden, mild burden: ß = 0.24, P = 0.197; severe burden: ß = 0.60, P < 0.01; P for trend < 0.01). There was a significant negative interaction effect of caregiver burden × neighbourhood relationship on psychological distress (severe burden × good neighbourhood relationship: ß = -3.29, P < 0.01). CONCLUSIONS: A higher caregiver burden was associated with higher psychological distress, and neighbourhood relationships moderated this association. Our findings suggest that good neighbourhood relationships can buffer caregiving-associated psychological distress.


Asunto(s)
Cuidadores/psicología , Relaciones Interpersonales , Distrés Psicológico , Características de la Residencia , Adaptación Psicológica , Adulto , Anciano , Estudios de Cohortes , Estudios Transversales , Femenino , Humanos , Japón , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios
5.
Obes Sci Pract ; 3(4): 417-424, 2017 12.
Artículo en Inglés | MEDLINE | ID: mdl-29259800

RESUMEN

Objective: Inconsistent results have been found in prior studies investigating the accuracy of self-reported waist circumference, and no study has investigated the validity of self-reported waist circumference among Japanese individuals. This study used the diagnostic standard of metabolic syndrome to assess the accuracy of individual's self-reported height, weight and waist circumference in a Japanese sample. Methods: Study participants included 7,443 Japanese men and women aged 35-79 years. They participated in a cohort study's baseline survey between 2007 and 2011. Participants' height, weight and waist circumference were measured, and their body mass index was calculated. Self-reported values were collected through a questionnaire before the examination. Results: Strong correlations between measured and self-reported values for height, weight and body mass index were detected. The correlation was lowest for waist circumference (men, 0.87; women, 0.73). Men significantly overestimated their waist circumference (mean difference, 0.8 cm), whereas women significantly underestimated theirs (mean difference, 5.1 cm). The sensitivity of self-reported waist circumference using the cut-off value of metabolic syndrome was 0.83 for men and 0.57 for women. Conclusions: Due to systematic and random errors, the accuracy of self-reported waist circumference was low. Therefore, waist circumference should be measured without relying on self-reported values, particularly in the case of women.

7.
Osteoporos Int ; 28(3): 871-880, 2017 03.
Artículo en Inglés | MEDLINE | ID: mdl-27752744

RESUMEN

Frail elderly individuals have elevated risks of both fracture and mortality. We found that incident fractures were associated with an increased risk of death even after adjusting for pre-fracture frailty status as represented by physical performance tests and laboratory tests for common geriatric diseases in community-dwelling elderly Japanese men. INTRODUCTION: While fractures reportedly increase the risk of mortality, frailty may complicate this association, generating a false-positive result. We evaluated this association after adjusting for pre-fracture levels of frailty. METHODS: We examined 1998 community-dwelling ambulatory men aged ≥65 years at baseline in the Fujiwara-kyo Osteoporosis Risk in Men Study for frailty status as represented by activities of daily living (ADL), physical performance tests (grip strength, one-foot standing balance with eyes open, timed 10-m walk), and laboratory sera tests. Participants were then followed for 5 years for incident clinical fractures and death. Effects of incident fracture on death were determined by Cox proportional hazards model with the first fracture during follow-up as a time-dependent predictor and with frailty status indices as covariates. RESULTS: We identified 111 fractures in 99 men and 138 deaths during the follow-up period (median follow-up, 4.5 years). Participants with incident fractures did not have significantly worse frailty statuses, but did show a significantly higher cumulative mortality rate than those without fractures (p = 0.0047). Age-adjusted hazard ratio (HR) of death for incident fracture was 3.57 (95 % confidence interval: 2.05, 6.24). When adjusted for physical performance, this decreased to 2.77 (1.51, 5.06), but remained significant. The HR showed no significant change when adjusted for laboratory test results (3.96 (2.26, 6.94)). Exclusion of deaths within the first 24 months of follow-up did not alter these results. CONCLUSION: Incident clinical fracture was associated with an elevated risk of death independently of pre-fracture levels of frailty in community-dwelling elderly men.


Asunto(s)
Fragilidad/mortalidad , Osteoporosis/mortalidad , Fracturas Osteoporóticas/mortalidad , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Anciano Frágil/estadística & datos numéricos , Evaluación Geriátrica/métodos , Humanos , Incidencia , Japón/epidemiología , Masculino , Modelos de Riesgos Proporcionales , Medición de Riesgo/métodos
8.
Clin Genet ; 90(6): 526-535, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27434533

RESUMEN

Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and a deep interpeduncular fossa which is defined by neuroimaging and is termed the 'molar tooth sign'. JS is genetically highly heterogeneous, with at least 29 disease genes being involved. To further understand the genetic causes of JS, we performed whole-exome sequencing in 24 newly recruited JS families. Together with six previously reported families, we identified causative mutations in 25 out of 30 (24 + 6) families (83.3%). We identified eight mutated genes in 27 (21 + 6) Japanese families, TMEM67 (7/27, 25.9%) and CEP290 (6/27, 22.2%) were the most commonly mutated. Interestingly, 9 of 12 CEP290 disease alleles were c.6012-12T>A (75.0%), an allele that has not been reported in non-Japanese populations. Therefore c.6012-12T>A is a common allele in the Japanese population. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). BBS1 is the causative gene in Bardet-Biedl syndrome. These concomitant mutations led to severe and/or complex clinical features in the patients, suggesting combined effects of different mutant genes.


Asunto(s)
Anomalías Múltiples/genética , Proteínas Adaptadoras Transductoras de Señales/genética , Antígenos de Neoplasias/genética , Cerebelo/anomalías , Anomalías del Ojo/genética , Enfermedades Renales Quísticas/genética , Proteínas de la Membrana/genética , Proteínas Asociadas a Microtúbulos/genética , Proteínas de Neoplasias/genética , Retina/anomalías , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/epidemiología , Anomalías Múltiples/fisiopatología , Alelos , Proteínas de Ciclo Celular , Cerebelo/diagnóstico por imagen , Cerebelo/fisiopatología , Proteínas del Citoesqueleto , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/epidemiología , Anomalías del Ojo/fisiopatología , Femenino , Heterogeneidad Genética , Predisposición Genética a la Enfermedad , Humanos , Japón/epidemiología , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales Quísticas/epidemiología , Enfermedades Renales Quísticas/fisiopatología , Masculino , Mutación , Omán/epidemiología , Linaje , Retina/diagnóstico por imagen , Retina/fisiopatología
9.
Bone Joint Res ; 5(7): 294-300, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-27421285

RESUMEN

OBJECTIVES: The purpose of this study was to clarify the appearance of the reparative tissue on the articular surface and to analyse the properties of the reparative tissue after hemicallotasis osteotomy (HCO) using MRI T1ρ and T2 mapping. METHODS: Coronal T1ρ and T2 mapping and three-dimensional gradient-echo images were obtained from 20 subjects with medial knee osteoarthritis. We set the regions of interest (ROIs) on the full-thickness cartilage of the medial femoral condyle (MFC) and medial tibial plateau (MTP) of the knee and measured the cartilage thickness (mm) and T1ρ and T2 relaxation times (ms). Statistical analysis of time-dependent changes in the cartilage thickness and the T1ρ and T2 relaxation times was performed using one-way analysis of variance, and Scheffe's test was employed for post hoc multiple comparison. RESULTS: The cartilage-like repair tissue appeared on the cartilage surface of the medial compartment post-operatively, and the cartilage thickness showed a significant increase between the pre-operative and one-year post-operative time points (MFC; p = 0.003, MTP; p < 0.001). The T1ρ values of the cartilage-like repair tissue showed no difference over time, however, the T2 values showed a significant decrease between the pre-operative and one-year post-operative time points (MFC; p = 0.004, MTP; p = 0.040). CONCLUSION: This study clarified that the fibrocartilage-like repair tissue appeared on the articular surface of the medial compartment after HCO as evidenced by MRI T1ρ and T2 mapping.Cite this article: H. Nishioka, E. Nakamura, J. Hirose, N. Okamoto, S. Yamabe, H. Mizuta. MRI T1ρ and T2 mapping for the assessment of articular cartilage changes in patients with medial knee osteoarthritis after hemicallotasis osteotomy. Bone Joint Res 2016;5:294-300. DOI: 10.1302/2046-3758.57.BJR-2016-0057.R1.

10.
Hum Reprod ; 31(4): 774-81, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26908843

RESUMEN

STUDY QUESTION: How do the temperature and duration of storage affect ovaries during transportation? SUMMARY ANSWER: Fertility is reduced with the extension of the storage duration. WHAT IS KNOWN ALREADY: Live birth has been reported after ovarian transport overnight on ice before freezing ovarian tissue, but there have been no basic investigations of ovarian storage conditions focused on fertility. There are no guidelines on optimal ovarian storage conditions and the maximum storage time during transportation. STUDY DESIGN, SIZE AND DURATION: Experiments were performed using C57BL/6J mice. Ovaries of 4-week-old mice were harvested, stored at 4, 14, 37 °C or room temperature (RT) for 24 h, and subjected to histological examination. Next, ovaries were stored at 4 °C for 4, 8 or 24 h and subjected to histological examination. Then orthotopic transplantation of ovaries, stored at 4 °C for 4, 8 or 24 h, was performed in 6-week-old C57BL/6J mice, and fertility was assessed by in vitro fertilization and embryo transfer. Freshly harvested ovaries were used as controls for comparison with ovaries stored under the above-mentioned conditions and experiments were repeated at least three times. PARTICIPANTS/MATERIALS, SETTING AND METHODS: In experiments on the ovarian storage temperature, haematoxylin-eosin (HE) staining was performed for histological examination. In experiments on the storage duration, HE staining, the terminal deoxynucleotidyl transferase dUTP nick end labelling assay, Ki-67 staining and electron microscopy were performed, and the numbers of follicles were counted. Fertility was assessed from the number of oocytes, and the rates of fertilization, embryo development, implantation and live birth. MAIN RESULTS AND THE ROLE OF CHANCE: Histological changes were minimal after storage of ovaries at 4 °C for up to 24 h. At 4 °C, there were no significant changes in the number of MII oocytes, fertilization rate or blastocyst development rate with storage up to 24 h. The implantation rate was 82.7 ± 17.3% in the control group, while it was 82.2 ± 7.7, 14.6 ± 14.6 and 4.4 ± 4.4% after storage for 4, 8 or 24 h, respectively. After 8 or 24 h of storage, the implantation rate was significantly lower in than in the control group (P< 0.05). The rate of live pups was 24.8 ± 13.2% in the control group, while it was 23.9 ± 6.6, 4.2 ± 4.2 and 4.4 ± 4.4% after storage for 4, 8 or 24 h, respectively. After 8 or 24 h of storage, the rate of live pups was significantly lower than in the control group (P< 0.05). LIMITATIONS, REASONS FOR CAUTION: Further investigations are needed in mammals with ovaries of a similar size to human ovaries, and should include the assessment of fertility following transplantation of frozen and thawed ovaries. WIDER IMPLICATION OF THE FINDINGS: The present results suggest that prolonging the ovarian storage time reduces fertility in mice. Thus, ovaries should be frozen immediately after harvesting or transported as rapidly as possible to minimize damage. To allow young cancer patients to preserve fertility, regional medical centres need adequate ovarian tissue cryopreservation techniques. STUDY FUNDING/COMPETING INTERESTS: This study supported by Department of Obstetrics and Gynecology, St. Marianna University School of Medicine. The authors have no competing interests to declare.


Asunto(s)
Criopreservación/veterinaria , Ovario/trasplante , Transportes , Animales , Cesárea/veterinaria , Frío/efectos adversos , Criopreservación/métodos , Transferencia de Embrión/veterinaria , Femenino , Fertilización In Vitro/veterinaria , Japón , Nacimiento Vivo/veterinaria , Ratones Endogámicos C57BL , Ratones Endogámicos ICR , Microscopía Electrónica de Transmisión/veterinaria , Ovario/citología , Ovario/metabolismo , Ovario/ultraestructura , Factores de Tiempo
11.
Clin Genet ; 89(1): 115-9, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25810209

RESUMEN

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay. WSS is caused by heterozygous mutations in KMT2A (also known as MLL), a gene encoding a histone methyltransferase. Here, we identify six novel KMT2A mutations in six WSS patients, with four mutations occurring de novo. Interestingly, some of the patients were initially diagnosed with atypical Kabuki syndrome, which is caused by mutations in KMT2D or KDM6A, genes also involved in histone methylation. KMT2A mutations and clinical features are summarized in our six patients together with eight previously reported patients. Furthermore, clinical comparison of the two syndromes is discussed in detail.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , N-Metiltransferasa de Histona-Lisina/genética , Mutación , Proteína de la Leucemia Mieloide-Linfoide/genética , Fenotipo , Niño , Preescolar , Exoma , Femenino , Sitios Genéticos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino
12.
Int J Oral Maxillofac Surg ; 44(8): 977-83, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25986293

RESUMEN

The purpose of this study was to examine the efficacy of ultrasonography (US) and unenhanced magnetic resonance imaging (MRI) to determine the location of the internal maxillary artery (IMA) before orthognathic surgery. The study subjects were 19 patients (seven males and twelve females) with mandibular prognathism seen at the authors' institution between March 2012 and April 2013. The distance from the skin to the IMA (S-IMA) and the distance from the mandibular notch to the IMA (MN-IMA) were measured. Using the US and coronal MRI images, S-IMA(cl) and MN-IMA(cl) in the closed position and S-IMA(op) and MN-IMA(op) in the open position were measured at a total of four points in each cross-section. There were significant correlations between the distances measured on coronal MRI and US for all groups (P<0.05). A total of 35 (92%) IMAs were classified as clear and three (8%) as unclear based on the US findings. Regarding the location of the IMA, 37 of the 38 sides studied (97%) were of the lateral type, while only one (3%) was of the medial type. The results of this study indicate that US can be used effectively to determine the location of the IMA.


Asunto(s)
Imagen por Resonancia Magnética , Arteria Maxilar/anatomía & histología , Arteria Maxilar/diagnóstico por imagen , Cirugía Ortognática , Prognatismo/cirugía , Adolescente , Adulto , Puntos Anatómicos de Referencia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Ultrasonografía
13.
Osteoporos Int ; 26(6): 1841-8, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25752623

RESUMEN

UNLABELLED: FRAX® is widely used to evaluate fracture risk of individuals in clinical settings. However, FRAX® prediction accuracy is not sufficient, and improvement is desired. Trabecular bone score, a bone microarchitecture index, may improve FRAX® prediction accuracy for major osteoporotic fractures in community-dwelling elderly Japanese men. INTRODUCTION: To improve fracture risk assessment in clinical settings, we evaluated whether the combination of FRAX® and Trabecular Bone Score (TBS) improves the prediction accuracy of major osteoporotic fractures (MOFs) in elderly Japanese men compared to FRAX® alone. METHODS: Two thousand and twelve community-dwelling men aged ≥65 years completed the Fujiwara-kyo Osteoporosis Risk in Men (FORMEN) Baseline Study comprising lumbar spine (LS) and femoral neck areal bone mineral density (aBMD) measurements, and interviews regarding clinical risk factors required to estimate 10-year risk of MOF (hip, spine, distal forearm, and proximal humerus) using the Japanese version of FRAX® (v.3.8). TBS was calculated for the same vertebrae used for LS-aBMD with TBS iNsight software (v.2.1). MOFs that occurred during the follow-up period were identified by interviews or mail and telephone surveys. Prediction accuracy of a logistic model combining FRAX® score and TBS compared to FRAX® alone was evaluated by area under receiver-operating characteristic curves (AUCs), as well as category-free integrated discrimination improvement (IDI) and net reclassification improvement (NRI). RESULTS: We identified 22 men with MOFs during 8140 person-years (PY) of follow-up among 1872 men; 67 men who suffered from fractures other than MOFs were excluded. Participants with MOFs had significantly lower TBS (p = 0.0015) and higher FRAX® scores (p = 0.0089) than those without. IDI and NRI showed significant improvements in reclassification accuracy using FRAX® plus TBS compared to FRAX® alone (IDI 0.006 (p = 0.0362), NRI 0.452 (p = 0.0351)), although no difference was observed in AUCs between the two. CONCLUSIONS: TBS may improve MOF prediction accuracy of FRAX® for community-dwelling elderly Japanese men.


Asunto(s)
Osteoporosis/diagnóstico , Fracturas Osteoporóticas/etiología , Absorciometría de Fotón/métodos , Anciano , Densidad Ósea/fisiología , Cuello Femoral/fisiopatología , Humanos , Incidencia , Japón/epidemiología , Vértebras Lumbares/patología , Vértebras Lumbares/fisiopatología , Masculino , Osteoporosis/epidemiología , Osteoporosis/fisiopatología , Fracturas Osteoporóticas/epidemiología , Fracturas Osteoporóticas/fisiopatología , Valor Predictivo de las Pruebas , Medición de Riesgo/métodos , Factores de Riesgo
14.
Osteoporos Int ; 26(5): 1585-94, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25627112

RESUMEN

UNLABELLED: The effects of milk intake on bone health are not clear in elderly Asian men with low dietary calcium intake. This study showed that greater milk intake is associated with lower bone turnover, higher bone density, and higher bone microarchitecture index in community-dwelling elderly Japanese men. INTRODUCTION: The consumption of milk or dairy products is widely recommended for maintaining bone health regardless of gender or age. However, little evidence exists on the beneficial effects of milk intake on bone health in elderly Japanese men characterized with relatively low dietary calcium intake. Here we examined whether or not greater milk intake was associated with lower bone turnover, higher bone density, and stronger bone microarchitecture in community-dwelling elderly Japanese men. METHODS: Interviews were conducted to obtain information on medical history and lifestyle, including the amount of habitual milk intake, nutrient intake calculations based on a 1-week food diary, and measurements of areal bone mineral density (aBMD) at the lumbar spine (LS), total hip (TH), and femoral neck (FN) by dual-energy x-ray absorptiometry (DXA), trabecular bone score (TBS) using DXA images at LS, and biochemical markers of bone turnover in sera. Participants with a history of diseases or medications that affect bone metabolism, or with missing data, were excluded from the analysis. RESULTS: The median intake of milk in the 1479 participants (mean age, 73.0 ± 5.1 years) was one glass of milk per day. Bone turnover markers showed a decreasing trend (p < 0.05) and aBMD at TH (p = 0.0019) and FN (p = 0.0057) and TBS (p = 0.0017) showed increasing trends with greater milk intake after adjusting for demographic and behavioral confounding factors. This association was attenuated after further adjusting for nutrient intake, in particular, calcium intake. CONCLUSIONS: Greater milk intake was associated with lower bone turnover, higher aBMD, and higher TBS in community-dwelling elderly Japanese men.


Asunto(s)
Densidad Ósea/fisiología , Remodelación Ósea/fisiología , Calcio de la Dieta/administración & dosificación , Leche , Absorciometría de Fotón/métodos , Anciano , Animales , Biomarcadores/sangre , Dieta/estadística & datos numéricos , Conducta Alimentaria/fisiología , Humanos , Estilo de Vida , Masculino , Estudios Prospectivos
15.
Clin Genet ; 88(3): 288-92, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25156961

RESUMEN

We developed a next-generation sequencing (NGS) based mutation screening strategy for neurodevelopmental diseases. Using this system, we screened 284 genes in 40 patients. Several novel mutations were discovered. Patient 1 had a novel mutation in ACTB. Her dysmorphic feature was mild for Baraitser-Winter syndrome. Patient 2 had a truncating mutation of DYRK1A. She lacked microcephaly, which was previously assumed to be a constant feature of DYRK1A loss of function. Patient 3 had a novel mutation in GABRD gene. She showed Rett syndrome like features. Patient 4 was diagnosed with Noonan syndrome with PTPN11 mutation. He showed complete agenesis of corpus callosum. We have discussed these novel findings.


Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/genética , Actinas/genética , Niño , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Mutación , Polimorfismo de Nucleótido Simple , Proteínas Serina-Treonina Quinasas/genética , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética , Proteínas Tirosina Quinasas/genética , Receptores de GABA-A/genética , Quinasas DyrK
16.
Clin Genet ; 88(3): 261-6, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25171146

RESUMEN

Approximately 20% of Beckwith-Wiedemann syndrome (BWS) cases are caused by mosaic paternal uniparental disomy of chromosome 11 (pUPD11). Although pUPD11 is usually limited to the short arm of chromosome 11, a small minority of BWS cases show genome-wide mosaic pUPD (GWpUPD). These patients show variable clinical features depending on mosaic ratio, imprinting status of other chromosomes, and paternally inherited recessive mutations. To date, there have been no reports of a mosaic GWpUPD patient with an autosomal recessive disease caused by a paternally inherited recessive mutation. Here, we describe a patient concurrently showing the clinical features of BWS and autosomal recessive cystinuria. Genetic analyses revealed that the patient has mosaic GWpUPD and an inherited paternal homozygous mutation in SLC7A9. This is the first report indicating that a paternally inherited recessive mutation can cause an autosomal recessive disease in cases of GWpUPD mosaicism. Investigation into recessive mutations and the dysregulation of imprinting domains is critical in understanding precise clinical conditions of patients with mosaic GWpUPD.


Asunto(s)
Síndrome de Beckwith-Wiedemann/diagnóstico , Síndrome de Beckwith-Wiedemann/genética , Cistinuria/genética , Genes Recesivos , Disomía Uniparental , Sistemas de Transporte de Aminoácidos Básicos/genética , Sistemas de Transporte de Aminoácidos Neutros/genética , Femenino , Genotipo , Humanos , Lactante , Riñón/patología , Mutación , Polimorfismo de Nucleótido Simple , Ultrasonografía
17.
Int J Oral Maxillofac Surg ; 44(3): 349-55, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25468631

RESUMEN

We investigated changes in the sensitivity of cutaneous points and the oral mucosa after sagittal split ramus osteotomy (SSRO) and assessed the differences between SSRO and intraoral vertical ramus osteotomy (IVRO). The subjects included in this study were 46 patients with mandibular prognathism who underwent IVRO (88 rami) and 30 patients who underwent SSRO (59 rami). An objective evaluation of the neurosensory status of each patient was completed preoperatively and at 1, 4, 8, 12, and 24 weeks postoperatively. Other variables studied for each patient included sex, age, magnitude of mandibular setback, and amount of blood loss during surgery. We found that a neurosensory recovery occurred earlier in the oral mucosa than at cutaneous points. The number of oral mucosa points showing reduced neurosensory function and neurosensory disturbance after SSRO was significantly higher than after IVRO at 1, 4, and 8 weeks (P<0.05). The nerve recovery observed after SSRO was delayed for a longer period than that noted in our previous study of IVRO. In conclusion, we found changes in sensitivity at cutaneous points and the oral mucosa after SSRO and assessed the differences between SSRO and IVRO.


Asunto(s)
Mucosa Bucal/inervación , Osteotomía Sagital de Rama Mandibular , Osteotomía/métodos , Complicaciones Posoperatorias/epidemiología , Prognatismo/cirugía , Trastornos de la Sensación/epidemiología , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad
18.
Clin Genet ; 87(4): 356-61, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24697219

RESUMEN

Eukaryotic elongation factor 1, alpha-2 (eEF1A2) protein is involved in protein synthesis, suppression of apoptosis, and regulation of actin function and cytoskeletal structure. EEF1A2 gene is highly expressed in the central nervous system and Eef1a2 knockout mice show the neuronal degeneration. Until now, only one missense mutation (c.208G > A, p.Gly70Ser) in EEF1A2 has been reported in two independent patients with neurological disease. In this report, we described two patients with de novo mutations (c.754G > C, p.Asp252His and c.364G > A, p.Glu122Lys) in EEF1A2 found by whole-exome sequencing. Common clinical features are shared by all four individuals: severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. Furthermore, the two patients share the similar characteristic facial features including a depressed nasal bridge, tented upper lip, everted lower lip and downturned corners of the mouth. These data strongly indicate that a new recognizable disorder is caused by EEF1A2 mutations.


Asunto(s)
Trastorno Autístico/genética , Epilepsia/genética , Cara/anomalías , Discapacidad Intelectual/genética , Factor 1 de Elongación Peptídica/genética , Secuencia de Bases , Variaciones en el Número de Copia de ADN , Femenino , Humanos , Datos de Secuencia Molecular , Mutación Missense/genética , Linaje , Análisis de Secuencia de ADN , Síndrome
19.
Nat Mater ; 13(10): 932-7, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25108612

RESUMEN

Controlling spin-related material properties by electronic means is a key step towards future spintronic technologies. The spin Hall effect (SHE) has become increasingly important for generating, detecting and using spin currents, but its strength--quantified in terms of the SHE angle--is ultimately fixed by the magnitude of the spin-orbit coupling (SOC) present for any given material system. However, if the electrons generating the SHE can be controlled by populating different areas (valleys) of the electronic structure with different SOC characteristic the SHE angle can be tuned directly within a single sample. Here we report the manipulation of the SHE in bulk GaAs at room temperature by means of an electrical intervalley transition induced in the conduction band. The spin Hall angle was determined by measuring an electromotive force driven by photoexcited spin-polarized electrons drifting through GaAs Hall bars. By controlling electron populations in different (Γ and L) valleys, we manipulated the angle from 0.0005 to 0.02. This change by a factor of 40 is unprecedented in GaAs and the highest value achieved is comparable to that of the heavy metal Pt.

20.
Osteoarthritis Cartilage ; 22(7): 1007-17, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24795271

RESUMEN

OBJECTIVE: When endoplasmic reticulum (ER) stress, i.e., the excessive accumulation of unfolded proteins in ER, endangers homeostasis, apoptosis is induced by C/EBP homologous protein (Chop). In osteoarthritis (OA) cartilage, Chop expression and apoptosis increase as degeneration progresses. We investigated the role of Chop in murine chondrocyte apoptosis and in the progression of cartilage degeneration. METHOD: We induced experimental OA in Chop-knockout (Chop(-/-)) mice by medial collateral ligament transection and meniscectomy and compared cartilage degeneration, apoptosis, and ER stress in Chop(-/-)- and wild-type (Chop(+/+)) mice. In our in vitro experiments we treated murine Chop(-/-) chondrocytes with the ER stress inducer tunicamycin (TM) and evaluated apoptosis, ER stress, and chondrocyte function. RESULTS: In vivo, the degree of ER stress was similar in Chop(-/-)- and Chop(+/+) mice. However, in Chop(-/-) mice apoptosis and cartilage degeneration were lower by 26.4% and 42.4% at 4 weeks, by 26.8% and 44.9% at 8 weeks, and by 26.9% and 32.3% at 12 weeks after surgery than Chop(+/+) mice, respectively. In vitro, the degree of ER stress induction by TM was similar in Chop(-/-)- and Chop(+/+) chondrocytes. On the other hand, apoptosis was 55.3% lower and the suppression of collagen type II and aggrecan mRNA was 21.0% and 23.3% less, and the increase of matrix metalloproteinase-13 mRNA was 20.0% less in Chop(-/-)- than Chop(+/+) chondrocytes. CONCLUSION: Our results indicate that Chop plays a direct role in chondrocyte apoptosis and that Chop-mediated apoptosis contributes to the progression of cartilage degeneration in mice.


Asunto(s)
Apoptosis/fisiología , Enfermedades de los Cartílagos/patología , Enfermedades de los Cartílagos/fisiopatología , Cartílago Articular/patología , Condrocitos/patología , Estrés del Retículo Endoplásmico/fisiología , Factor de Transcripción CHOP/fisiología , Agrecanos/metabolismo , Animales , Cartílago Articular/fisiopatología , Células Cultivadas , Condrocitos/efectos de los fármacos , Condrocitos/metabolismo , Colágeno Tipo II/metabolismo , Modelos Animales de Enfermedad , Progresión de la Enfermedad , Estrés del Retículo Endoplásmico/efectos de los fármacos , Homeostasis/fisiología , Técnicas In Vitro , Metaloproteinasa 13 de la Matriz/metabolismo , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Factor de Transcripción CHOP/deficiencia , Factor de Transcripción CHOP/genética , Tunicamicina/farmacología
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