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BACKGROUND: Exposure to workplace aggression adversely affects workers' health; however, little is known regarding the impact of specific types of verbal content. AIMS: We aimed to examine the relationship between exposure to several types of aggressive words at work and the victim's depressive symptoms and sleep disturbance using text mining. METHODS: We conducted a longitudinal survey with 800 workers in wholesale and retail companies; of which, 500 responded to the follow-up survey. The Centre for Epidemiologic Studies-Depression Scale and Pittsburgh Sleep Quality Index were filled out by the participants, and their responses were analysed by logistic regression to evaluate the risk of depression or sleep problems. We collected exact aggressive words encountered at work over the past year as a dependent variable and classified it into four types using text mining, such as words criticizing one's performance. RESULTS: The follow-up rate was 63%. Exposure to words threatening one's life showed a significant relationship with the risk of depression (odds ratio [OR]â =â 13.94, 95% confidence interval [CI]â =â 1.76-110.56). The exposure to words criticizing one's job performance is significantly related to the risk of sleep disturbance (ORâ =â 5.56, 95% CIâ =â 2.08-14.88). CONCLUSIONS: These findings suggest that different contents of verbal aggression can have different impacts on workers' health. This indicates that not only overtly threatening and abusive language but also words related to one's performance can be a risk factor for workers, depending on how they are delivered. To mitigate the adverse effects, promoting effective communication and cultivating psychological detachment from work may be beneficial.
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Salud Mental , Trastornos del Sueño-Vigilia , Humanos , Agresión , Lugar de Trabajo , Encuestas y Cuestionarios , Minería de DatosRESUMEN
The superconducting (SC) phase diagram in uranium ditelluride is explored under magnetic fields (H) along the hard magnetic b axis using a high-quality single crystal with T_{c}=2.1 K. Simultaneous electrical resistivity and ac magnetic susceptibility measurements discern low- and high-field SC (LFSC and HFSC, respectively) phases with contrasting field-angular dependence. Crystal quality increases the upper critical field of the LFSC phase, but the H^{*} of â¼15 T, at which the HFSC phase appears, is always the same through the various crystals. A phase boundary signature is also observed inside the LFSC phase near H^{*}, indicating an intermediate SC phase characterized by small flux pinning forces.
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Bisphosphonate (BPN) therapy, which mainly targets osteoporosis, evolves rapidly, leaving patients and physicians with a substantial collection of BPN regimen options. In this study, we aimed to clarify BPN medication adherence between weekly and monthly regimens using a nationwide claims database in Japan. We analyzed 5,016 patients with a screening period of 3 months and a 12 month observation period who started using BPN. We used propensity score matching with baseline patient background after dividing the patients into two groups: weekly and monthly BPN users. Medication adherence was calculated using proportion days cover (PDC). A PDC of > 80% was 55.9% and 52.5% in monthly and weekly formulas, respectively, during the 12 months after initiating BPN treatment. PDC-based BPN medication adherence was higher in monthly regimens than in weekly regimens (66.3±34.0 vs. 64.1±36.8%). No differences were found in the proportion of patients with > 80% medication adherence between the monthly and weekly regimens after stratifying patient background using propensity score matching. Our clinical findings highlight the importance of closely monitoring BPN medication adherence, particularly during the initial year of therapy. Notably, half of the patients with osteoporosis exhibited low medication adherence. Therefore, prioritizing monthly regimens over weekly regimens is crucial to promote BPN adherence and ensure optimal treatment outcomes.
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Conservadores de la Densidad Ósea , Osteoporosis , Humanos , Difosfonatos , Esquema de Medicación , Osteoporosis/tratamiento farmacológico , Cumplimiento de la Medicación , Resultado del Tratamiento , Conservadores de la Densidad Ósea/uso terapéuticoRESUMEN
BACKGROUND: Recent studies have indicated the potential benefit of intraoperative near-infrared fluorescence imaging (NIR-FI) with indocyanine green in reducing early anastomotic leakage in colorectal surgery. Nonetheless, whether NIR-FI is effective in reducing structural sequelae of anastomotic leakage (SSAL) remains unclear. The aim of the present study was to investigate the impact of NIR-FI on SSAL after laparoscopic intersphincteric resection (ISR) of malignant rectal tumors. METHODS: This study was a retrospective single-center cohort study. A total of 293 consecutive patients who underwent elective laparoscopic ISR from May 2010 to August 2017 were included. Patients were divided into 2 groups; those who underwent elective laparoscopic ISR with lymphadenectomy for malignant rectal tumors using NIR-F (NIR-FI group) and those who underwent elective laparoscopic ISR with lymphadenectomy for malignant rectal tumors without using NIR-FI (control group). Thirty were excluded from the analyses (13 died, 7 had pelvic recurrence, and 10 were lost to follow-up). The primary endpoint was the rate of SSAL within 2 years after the primary resection, whereas the secondary endpoint was the rate of natural defecation via the anus at 2 years after the primary resection. Using various statistical analyses, such as propensity score matching, the rate of SSAL was compared between groups. RESULTS: A total of 263 patients were analyzed [177 males and 86 females, median age 61 (27-84) years]. Prior to propensity score matching (n = 263), NIR-FI was performed in 70 patients (26.6%) The rates of SSAL were 1.4% (1/70) in the NIR-FI group and 10.4% (20/193) in the control group (p = 0.02). After propensity score matching (n = 163), the rates of SSAL were 1.5% (1/66) in the NIR-FI group and 11.7% (12/103) in the control group (p = 0.02). Propensity score analyses, as well as simple regression analyses, revealed that NIR-FI was associated with a significantly lower risk of SSAL (OR 0.10-0.13; p = 0.03-0.05). CONCLUSIONS: NIR-FI is useful in reducing the rate of SSAL after laparoscopic ISR.
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Laparoscopía , Neoplasias del Recto , Canal Anal/diagnóstico por imagen , Canal Anal/patología , Canal Anal/cirugía , Anastomosis Quirúrgica , Fuga Anastomótica/diagnóstico por imagen , Fuga Anastomótica/etiología , Fuga Anastomótica/prevención & control , Estudios de Cohortes , Femenino , Humanos , Verde de Indocianina , Laparoscopía/efectos adversos , Laparoscopía/métodos , Masculino , Persona de Mediana Edad , Imagen Óptica , Neoplasias del Recto/diagnóstico por imagen , Neoplasias del Recto/patología , Neoplasias del Recto/cirugía , Estudios RetrospectivosRESUMEN
BACKGROUND: Placing a transanal endoscopic rectal purse-string suture (taEPS) is the crucial first component of transanal total mesorectal excision (taTME). However, no structured training is available to improve the procedure-specific skills for taEPS. The aim of this study was to create a performance rubric to improve taEPS skills and provide preliminary evidence for its validity. METHODS: A performance rubric was created based on technical considerations for taEPS, identified by consulting with taTME surgical and performance assessment experts. Ten independent, blinded raters assessed 10 videotaped taEPS procedures of consecutive taTME cases, at National Cancer Center Hospital East (NCCHE), Chiba, Japan, in January 2018-March 2019 using the rubric and the Global Operative Assessment of Laparoscopic Skills (GOALS). Internal consistency and inter-rater reliabilities were calculated. Videotaped taEPS procedures were timed and assessed by the rubric. Correlation between rubric scores and suturing times were analyzed. RESULTS: The rubric consists of four items: loading the needle (LN), atraumatic needle passage (AP), planned suture path (PS), and overall performance (OA). Videotaped performances were graded on a 3-point Likert scale; scores were calculated as sums of the points. Cronbach's α for internal consistency was 0.713. Inter-rater reliabilities were LN: 0.73, AP: 0.76, PS: 0.71, and OA: 0.70. Rubric and GOALS scores were strongly correlated (r = 0.964, p < 0.001). In 112 consecutive taEPS performances, rubric scores were strongly correlated with suturing time (r = - 0.69, p < 0.001). Surgeons' experience with taTME was associated with rubric scores and suturing time. CONCLUSIONS: This study provides preliminary validation for the taEPS skill performance rubric. The rubric's structured training may facilitate skill acquisition by providing trainees with critical clinical considerations.
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Laparoscopía , Proctectomía , Neoplasias del Recto , Cirugía Endoscópica Transanal , Humanos , Laparoscopía/métodos , Complicaciones Posoperatorias/cirugía , Neoplasias del Recto/cirugía , Recto/cirugía , Suturas , Cirugía Endoscópica Transanal/métodosRESUMEN
BACKGROUND AND PURPOSE: The detection rate of diffusion-weighted (DWI) hyperintense lesions varies widely in patients with transient global amnesia (TGA). The aim was to examine the association of hyperintense lesions on DWI magnetic resonance imaging (MRI) with patient characteristics, precipitating factors, clinical presentation and MRI settings in patients with TGA. METHODS: In this multicenter retrospective observational study, using the standardized diagnosis entry system of electronic health records of four tertiary medical centers in the Kansai district of Japan, TGA patients (n = 261) who underwent brain MRI within 28 days of onset were examined. When the onset time was unavailable, the discovery time was used. RESULTS: Diffusion-weighted hyperintense lesions were observed in 79 patients (30%). There were no significant differences in age, sex, vascular risk factors, precipitating factors or clinical presentation between patients with and without DWI lesions. The detection rate increased linearly 24 h after onset and then reached a plateau of 60%-80% by 84 h. After 84 h, the detection rate decreased rapidly. In a multivariate logistic regression model, MRI examination 24-84 h after onset (odds ratio 7.00, 95% confidence interval 3.50-13.99) and a thin-slice (≤3 mm) DWI sequence (odds ratio 7.59, 95% confidence interval 3.05-18.88) were independent predictors of DWI lesions. CONCLUSIONS: This study suggests that DWI hyperintense lesions in TGA are not associated with patient characteristics and clinical presentation. Brain MRI examination 24-84 h after onset and thin-slice DWI sequences enhance the detection of DWI lesions in TGA patients.
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Amnesia Global Transitoria , Amnesia Global Transitoria/diagnóstico por imagen , Hipocampo , Humanos , Japón/epidemiología , Imagen por Resonancia MagnéticaRESUMEN
Genome-wide association studies (GWASs) have identified several susceptibility loci for bipolar disorder (BD) and shown that the genetic architecture of BD can be explained by polygenicity, with numerous variants contributing to BD. In the present GWAS (Phase I/II), which included 2964 BD and 61 887 control subjects from the Japanese population, we detected a novel susceptibility locus at 11q12.2 (rs28456, P=6.4 × 10-9), a region known to contain regulatory genes for plasma lipid levels (FADS1/2/3). A subsequent meta-analysis of Phase I/II and the Psychiatric GWAS Consortium for BD (PGC-BD) identified another novel BD gene, NFIX (Pbest=5.8 × 10-10), and supported three regions previously implicated in BD susceptibility: MAD1L1 (Pbest=1.9 × 10-9), TRANK1 (Pbest=2.1 × 10-9) and ODZ4 (Pbest=3.3 × 10-9). Polygenicity of BD within Japanese and trans-European-Japanese populations was assessed with risk profile score analysis. We detected higher scores in BD cases both within (Phase I/II) and across populations (Phase I/II and PGC-BD). These were defined by (1) Phase II as discovery and Phase I as target, or vice versa (for 'within Japanese comparisons', Pbest~10-29, R2~2%), and (2) European PGC-BD as discovery and Japanese BD (Phase I/II) as target (for 'trans-European-Japanese comparison,' Pbest~10-13, R2~0.27%). This 'trans population' effect was supported by estimation of the genetic correlation using the effect size based on each population (liability estimates~0.7). These results indicate that (1) two novel and three previously implicated loci are significantly associated with BD and that (2) BD 'risk' effect are shared between Japanese and European populations.
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Trastorno Bipolar/genética , Adulto , Proteínas de Ciclo Celular/genética , Citocinas/genética , delta-5 Desaturasa de Ácido Graso , Ácido Graso Desaturasas/genética , Femenino , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo , Humanos , Japón/epidemiología , Masculino , Glicoproteínas de Membrana/genética , Persona de Mediana Edad , Herencia Multifactorial/genética , Factores de Transcripción NFI/genética , Proteínas Nucleares/genética , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
An important factor controlling tree species diversity is conspecific density dependence (CDD). Adult trees associated with arbuscular mycorrhiza (AM) and ectomycorrhiza (ECM) can exhibit negative and positive CDD effects on conspecific recruitment, respectively. However, the extent to which these mycorrhizal associations affect spatial distributions of individual trees and their relative abundances within forests through CDD remains uncertain. We analysed changes in spatial correlations between adults and conspecific juveniles at different growth stages of five hardwood species in a 6-ha plot of an old-growth forest using a point pattern analysis. The clump sizes of large individuals were also evaluated using the Iδ index (a measure of individual dispersion) in 24 species. In two AM-associated species, juveniles were distributed at greater distances with increasing size or were always distributed at a distance from adults, resulting in small clumps of adults. In contrast, juveniles of two ECM-associated species were distributed close to adults during early or late growth stage, resulting in large clumps of adults. Juveniles of an ECM-associated species disappeared with increasing size, probably due to shade intolerance. In 24 tree species with large numbers of individuals within a plot, the relative basal area was related to both mycorrhizal type and maximum diameter, suggesting that the relative abundance of a species is largely related to its mycorrhizal associations and maximum plant size. This study strongly demonstrated that mycorrhizal associations play an important role in determining the spatial distribution patterns and community structure of tree species through CDD.
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Micorrizas , Árboles , Bosques , PlantasRESUMEN
AIMS: There has been growing interest in faecal microbiota transplantation (FMT) as treatment. Although, frozen donor faeces preserved at -20°C has been widely used for practical advantages, freezing at -20°C can affect bacterial viability. Adequacy evaluation of fresh and frozen faeces as the transplant is necessary for the methodological improvement of FMT. METHODS AND RESULTS: The viable bacterial compositions of faecal specimens under fresh and freezing conditions were compared by a microbiome analysis using propidium monoazide (PMA microbiome). In addition, recovery abilities from bacterial reduction by antibiotics were compared between fresh and frozen FMT using a murine model. PMA microbiome results suggested that freezing and freeze-thawing did not significantly affect in vitro faecal bacterial viability. However, the recovery effect from antimicrobial cleansing in frozen FMT was reduced in a freezing time-dependent manner, especially prominent in Actinobacteria and Bacteroidetes phyla. CONCLUSIONS: Short-term freezing preservation of faeces exhibited maintenance of enteric colonization ability in frozen FMT in comparison to 1 month -20°C-preservation. SIGNIFICANCE AND IMPACT OF THE STUDY: Long-term -20°C-preservation of transplanted faeces can result in instability of the clinical outcome in FMT therapy. The standardization of practical procedures of FMT therapy according to disease types is desirable.
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Criopreservación , Trasplante de Microbiota Fecal , Heces/microbiología , Viabilidad Microbiana , HumanosRESUMEN
AIM: Intersphincteric resection (ISR) is an advanced anus-preserving operation for treating low rectal cancer while avoiding colostomy. High-resolution anorectal manometry (HR-ARM) allows objective and accurate evaluation of anal function. However, correlations between anal function after ISR and HR-ARM parameters are unknown. The aim of the study was to evaluate HR-ARM for objective evaluation of anal function after ISR. METHOD: A total of 81 patients who underwent ISR at our hospital between October 2014 and March 2016 were identified from our prospectively collected database and electronic medical records. Of these, 68 patients who had been evaluated using HR-ARM both before and after ISR were included in the study. Faecal incontinence (FI) was assessed by Wexner score. Multivariate analysis was performed to determine risk factors for severe FI after ISR. RESULTS: Maximum resting pressure (MRP) (P < 0.001) and maximum squeeze pressure (P = 0.04) were significantly lower after ISR, and MRP (P < 0.001) and maximum squeeze pressure (P = 0.02) were significantly lower after total (or subtotal) ISR than after partial ISR. The overall incidence of severe FI after ISR was 18% (12/68), and a high pressure zone before ISR ≤ 3 cm (P = 0.007) and MRP before ISR > 60 mmHg (P = 0.02) were independently associated with an elevated incidence of severe FI after ISR. Decreased preoperative MRP also correlated with severe FI after ISR (P = 0.008). CONCLUSION: HR-ARM is reliable for the evaluation of anal function after ISR, and the high pressure zone and MRP may be useful preoperative predictors of severe FI after ISR.
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Incontinencia Fecal/diagnóstico , Manometría/métodos , Complicaciones Posoperatorias/diagnóstico , Proctectomía/efectos adversos , Neoplasias del Recto/fisiopatología , Anciano , Canal Anal/fisiopatología , Canal Anal/cirugía , Bases de Datos Factuales , Incontinencia Fecal/epidemiología , Incontinencia Fecal/etiología , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Periodo Posoperatorio , Proctectomía/métodos , Estudios Prospectivos , Neoplasias del Recto/cirugía , Reproducibilidad de los Resultados , Estudios Retrospectivos , Factores de RiesgoRESUMEN
AIM: In patients with a previous history of rectal anastomotic leakage (AL), the surgical indications and timing for closure of a diverting stoma have to be carefully judged. Even if AL has apparently healed before stoma closure, re-leakage may occur after closure. The aim of this study was to determine the incidence and risk factors for recurrent AL following stoma closure. We also examined the treatment strategies aiming to minimize the risk of recurrent AL. METHODS: From January 2009 to December 2016, 1008 patients underwent sphincter-saving surgery [low anterior resection, all-sphincter-preserving rectal resection with hand-sewn coloanal anastomosis (CAA) and intersphincteric resection (ISR)] for primary rectal cancer with curative intent at our hospital. A total of 69 patients with AL with a Clavien-Dindo Grade III or more who subsequently underwent closure of a diverting stoma were retrospectively reviewed for this study. RESULTS: The incidence of recurrent leakage after stoma closure in this series was 13% overall with an incidence of 25% in the CAA/ISR group and 5% in the low anterior resection group. Significant risk factors included hand-sewn anastomosis (P = 0.0257) compared to stapled anastomosis, ischaemia at the anastomotic site as the cause of initial AL (P < 0.001) and a shorter interval between confirmation of healing and stoma closure (P = 0.00952). CONCLUSION: Ischaemia at the anastomotic site was the main risk factor for recurrent leakage, particularly after CAA/ISR. Additional treatment options before stoma closure should be considered to avoid re-leakage in such cases.
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Canal Anal/cirugía , Fuga Anastomótica/epidemiología , Colon/cirugía , Isquemia/complicaciones , Estomas Quirúrgicos/irrigación sanguínea , Adulto , Anciano , Anciano de 80 o más Años , Anastomosis Quirúrgica/efectos adversos , Fuga Anastomótica/etiología , Fuga Anastomótica/cirugía , Bases de Datos Factuales , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Proctectomía/efectos adversos , Estudios Prospectivos , Neoplasias del Recto/cirugía , Recurrencia , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Despite possessing a limited number of neurones compared to vertebrates, honeybees show remarkable learning and memory performance, an example being 'dance communication'. In this phenomenon, foraging honeybees learn the location of a newly discovered food source and transmit the information to nestmates by symbolic abdomen vibrating behaviour, leading to navigation of nestmates to the new food source. As an initial step toward understanding the detailed molecular mechanisms underlying the sophisticated learning and memory performance of the honeybee, we focused on the neural immediate early genes (IEGs), which are specific genes quickly transcribed after neural activity without de novo protein synthesis. Although these have been reported to play an essential role in learning and memory processes in vertebrates, far fewer studies have been performed in insects in this regard. From RNA-sequencing analysis and subsequent assays, we identified three genes, Src homology 3 (SH3) domain binding kinase, family with sequence similarity 46 and GB47136, as novel neural IEGs in the honeybee. Foragers and/or orientating bees, which fly around their hives to memorize the positional information, showed induced expression of these IEGs in the mushroom body, a higher-order centre essential for learning and memory, indicating a possible role for the novel IEGs in foraging-related learning and memory processes in the honeybee.
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Abejas/fisiología , Genes Inmediatos-Precoces/genética , Proteínas de Insectos/genética , Memoria , Animales , Abejas/genética , Conducta Alimentaria , Proteínas de Insectos/metabolismo , AprendizajeRESUMEN
BACKGROUND: Mental disorders and suicide resulting from overwork or work-related stress have become major occupational health issues worldwide, particularly in Asian countries. However, no studies have reported incidence rates of mental disorders and suicide by sex, age group and industry, using a national database containing all cases involving compensation in Asian countries. AIMS: The present study examined incidence rates of occupational mental disorders and suicide by sex, age group and industry using a database containing all cases involving compensation for mental disorders and suicide in Japan over a 5-year period. METHODS: Cases involving compensation for mental disorders and suicide in Japan between January 2010 and March 2015 were analysed. Incidence rates over the 5-year study period were calculated by sex, age group and industry. RESULTS: In total, 1990 cases involving compensation for mental disorders and suicide (619 women and 1371 men) between January 2010 and March 2015 were analysed. The incidence rate involving compensation was higher in employees aged between 30 and 39 years. In men, incidence rates were higher in 'accommodation/eating/drinking services', 'information/communication' and 'scientific research, professional and technical services'. In these industries, incidence rates were particularly high for those aged 29 years or younger. CONCLUSIONS: Our findings highlight the importance of promoting mental health support for younger employees and increasing awareness of their working conditions. Differences in incidence rates by sex, age and industry should be taken into consideration in the development of a national policy and industry- and age-specific preventive measures for overwork-related mental disorders and suicide.
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Trastornos Mentales/etiología , Suicidio/psicología , Carga de Trabajo/psicología , Carga de Trabajo/normas , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Incidencia , Japón/epidemiología , Masculino , Trastornos Mentales/epidemiología , Persona de Mediana Edad , Salud Laboral , Estrés Laboral/complicaciones , Estrés Laboral/psicología , Suicidio/estadística & datos numéricosRESUMEN
This study revealed the time course of osteoporotic vertebral fracture by magnetic resonance imaging using a simple classification. Signal changes were associated with the compression degree and mobility of the fractured vertebral body. This classification showed sufficient reliability in categorizing magnetic resonance imaging findings of osteoporotic vertebral fractures. INTRODUCTION: Magnetic resonance imaging (MRI) is useful in diagnosing osteoporotic vertebral fractures (OVFs). This study investigated the time course of OVFs by MRI using a simple classification. METHODS: This multicenter cohort study was performed from 2012 to 2015. Consecutive patients with ≤2-week-old OVFs were enrolled in 11 institutions. MRI was performed at enrollment and at 1-, 3-, 6-, and 12-month follow-up. Signal changes on T1-weighted imaging (T1WI), T2WI, and short τ inversion recovery (STIR) were classified according to signal intensity. Height and angular motion of vertebral bodies were also measured. RESULTS: The 6-month follow-up was completed by 153 patients. At enrollment, fractured vertebrae signal changes were 43 % diffuse and 57 % confined low on T1WI; on T2WI, 56, 24, and 5 % were confined low, high, and diffuse low, respectively; on STIR, 100 % were high. On T1WI, diffuse low remained most common (90 % at 1 month and 60 % at 3 months) until 6 and 12 months, when most were confined low (54 and 52 %, respectively). On T2WI, confined low remained most common (decreasing to 41 % at 12 months). On STIR, high signal change was shown in 98, 87, and 64 % at 3, 6, and 12 months, respectively. At 3, 6, and 12 months, diffuse low signal change was associated with significantly lower vertebral height, and high signal change was associated with significantly greater angular motion. CONCLUSIONS: MRI signal changes were associated with the compression degree and angular motion of fractured vertebrae. This classification showed sufficient reliability in categorizing MRI findings of OVFs.
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Fracturas Osteoporóticas/diagnóstico por imagen , Fracturas de la Columna Vertebral/diagnóstico por imagen , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Curación de Fractura , Humanos , Interpretación de Imagen Asistida por Computador/métodos , Imagen por Resonancia Magnética/métodos , Masculino , Variaciones Dependientes del Observador , Fracturas Osteoporóticas/patología , Pronóstico , Estudios Prospectivos , Reproducibilidad de los Resultados , Fracturas de la Columna Vertebral/patologíaRESUMEN
The utilization of molecular genetics approaches in examination of panic disorder (PD) has implicated several variants as potential susceptibility factors for panicogenesis. However, the identification of robust PD susceptibility genes has been complicated by phenotypic diversity, underpowered association studies and ancestry-specific effects. In the present study, we performed a succinct review of case-control association studies published prior to April 2015. Meta-analyses were performed for candidate gene variants examined in at least three studies using the Cochrane Mantel-Haenszel fixed-effect model. Secondary analyses were also performed to assess the influences of sex, agoraphobia co-morbidity and ancestry-specific effects on panicogenesis. Meta-analyses were performed on 23 variants in 20 PD candidate genes. Significant associations after correction for multiple testing were observed for three variants, TMEM132D rs7370927 (T allele: odds ratio (OR)=1.27, 95% confidence interval (CI): 1.15-1.40, P=2.49 × 10(-6)), rs11060369 (CC genotype: OR=0.65, 95% CI: 0.53-0.79, P=1.81 × 10(-5)) and COMT rs4680 (Val (G) allele: OR=1.27, 95% CI: 1.14-1.42, P=2.49 × 10(-5)) in studies with samples of European ancestry. Nominal associations that did not survive correction for multiple testing were observed for NPSR1 rs324891 (T allele: OR=1.22, 95% CI: 1.07-1.38, P=0.002), TPH1 rs1800532 (AA genotype: OR=1.46, 95% CI: 1.14-1.89, P=0.003) and HTR2A rs6313 (T allele: OR=1.19, 95% CI: 1.07-1.33, P=0.002) in studies with samples of European ancestry and for MAOA-uVNTR in female PD (low-active alleles: OR=1.21, 95% CI: 1.07-1.38, P=0.004). No significant associations were observed in the secondary analyses considering sex, agoraphobia co-morbidity and studies with samples of Asian ancestry. Although these findings highlight a few associations, PD likely involves genetic variation in a multitude of biological pathways that is diverse among populations. Future studies must incorporate larger sample sizes and genome-wide approaches to further quantify the observed genetic variation among populations and subphenotypes of PD.
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Predisposición Genética a la Enfermedad , Trastorno de Pánico/genética , Polimorfismo Genético , Ansiedad/genética , HumanosRESUMEN
BACKGROUND: Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is caused by mutations in LIPH. Homozygotes for the LIPH c.736T>A (p.C246S) mutation, the most prevalent genotype in Japanese patients, present varying degrees of hair loss; however, determinants of this phenotypic diversity remain elusive. OBJECTIVES: To establish methodologies for quantitative assessment of clinical severity and provide a detailed characterization to elucidate the factors contributing to phenotypic divergence. METHODS: Digital image analyses were conducted to convert clinical severities into numerical values. Eight patients with ARWH/H were classified into three groups (mild, severe, very severe), based on severity scores. Dermoscopic images were collected and assessed for total hair numbers and hair thickness for intergroup comparisons. RESULTS: The image analysis detected a difference in hair thickness but not in total hair numbers, between mild and severe cases. A marked decrease in total hair number was noted in an atypical very severe case. Histopathologically, a patient with a mild case demonstrated hair miniaturization and a high telogen/anagen ratio without a decrease in total hair count, endorsing dermoscopic observations. Two children demonstrated spontaneous improvement without an increase in total hair numbers, and two adults responded well to topical minoxidil with increased total hair numbers and hair thickness. CONCLUSIONS: The difference in the frequency of underdeveloped hairs may be a major factor contributing to the clinical diversity of hair sparseness in LIPH c.736T>A homozygotes with ARWH/H. Hence, pharmacological modification to thicken existing fine hairs may provide a therapeutic strategy.
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Enfermedades del Cabello/genética , Cabello/anomalías , Cabello/patología , Hipotricosis/genética , Lipasa/genética , Adulto , Niño , Preescolar , Dermoscopía/métodos , Femenino , Enfermedades del Cabello/tratamiento farmacológico , Enfermedades del Cabello/patología , Preparaciones para el Cabello/uso terapéutico , Homocigoto , Humanos , Hipotricosis/tratamiento farmacológico , Hipotricosis/patología , Masculino , Minoxidil/uso terapéutico , Mutación/genética , FenotipoRESUMEN
BACKGROUND AND PURPOSE: Cancer patients with cryptogenic stroke often have high plasma D-dimer levels and lesions in multiple vascular regions. Hence, if patients with cryptogenic stroke display such characteristics, occult cancer could be predicted. This study aimed to investigate the clinical characteristics of cryptogenic stroke as the first manifestation of occult cancer and to determine whether plasma D-dimer levels and lesions in multiple vascular regions can predict occult cancer in patients with cryptogenic stroke. METHODS: Between January 2006 and October 2015, data on 1225 patients with acute ischaemic stroke were extracted from the stroke database of Osaka University Hospital. Among them, 184 patients were classified as having cryptogenic stroke, and 120 patients without a diagnosis of cancer at stroke onset were identified. Clinical variables were analyzed between cryptogenic stroke patients with and without occult cancer. RESULTS: Among 120 cryptogenic stroke patients without a diagnosis of cancer, 12 patients had occult cancer. The body mass index, hemoglobin levels and albumin levels were lower; plasma D-dimer and high-sensitivity C-reactive protein levels were higher; and lesions in multiple vascular regions were more common in patients with than in those without occult cancer. Multiple logistic regression analysis revealed that plasma D-dimer levels (odds ratio, 3.48; 95% confidence interval, 1.68-8.33; P = 0.002) and lesions in multiple vascular regions (odds ratio, 7.40; 95% confidence interval, 1.70-39.45; P = 0.01) independently predicted occult cancer. CONCLUSIONS: High plasma D-dimer levels and lesions in multiple vascular regions can be used to predict occult cancer in patients with cryptogenic stroke.
Asunto(s)
Biomarcadores de Tumor/sangre , Productos de Degradación de Fibrina-Fibrinógeno/análisis , Isquemia/sangre , Neoplasias Primarias Desconocidas/sangre , Neoplasias Primarias Desconocidas/diagnóstico , Accidente Cerebrovascular/sangre , Anciano , Femenino , Humanos , Isquemia/complicaciones , Isquemia/fisiopatología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/fisiopatologíaRESUMEN
This study demonstrated the predictive values of radiological findings for delayed union after osteoporotic vertebral fractures (OVFs). High-signal changes on T2WI were useful findings. INTRODUCTION: The purpose of the present study is to determine predictive radiological findings for delayed union by magnetic resonance imaging (MRI) and plain X-rays at two time points in the acute phase of OVFs. METHODS: This multicenter cohort study was performed from 2012 to 2015. A total of 218 consecutive patients with OVFs ≤2 weeks old were enrolled. MRIs and plain X-rays were performed at the time of enrollment and at 1- and 6-month follow-ups. Signal changes on T1-weighted imaging (T1WI) were classified as diffuse low-, confined low-, or no-signal change; those on T2WI were classified as high (similar to the intensity of cerebrospinal fluid), confined low-, diffuse low-, or no-signal change. The angular motion of the fractured vertebral body was measured with X-rays. RESULTS: A total of 153 patients completed the 6-month follow-up. A high-signal change on T2WI was most useful in predicting delayed union. Sensitivity, specificity, and positive predictive values were 53.3, 87.8, and 51.6 % at enrollment and 65.5, 84.8, and 51.4 % at the 1-month follow-up, respectively. The positive predictive value increased to 62.5 % with observation of high- or diffuse low-signal changes at both enrollment and the 1-month follow-up. The cutoff value of vertebral motion was 5 degrees. Sensitivity and specificity at enrollment were 52.4 and 74.1 %, respectively. CONCLUSIONS: This study demonstrated the radiological factors predicting delayed union after an OVF. T2 high-signal changes showed the strongest association with delayed union. Consecutive MRIs were particularly useful as a differential tool to predict delayed union following OVFs.