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The COVID-19 pandemic has increased physician burnout beyond high baseline levels. We aimed to determine whether pandemic-related factors contribute to physician burnout beyond known organizational factors. This was a cross-sectional survey of Canadian physicians using a convenience sample. Eligible participants included any physician currently holding a license to practice in Canada. Responses were gathered from May 13 to 12 June 2020. Risk factors measured included the newly developed Pandemic Experiences and Perceptions Scale (PEPS) subscales, contact with virus, pandemic preparation, and provincial caseload. The primary outcome was the Maslach Burnout Inventory (MBI). The primary outcome was completed by 309 respondents. Latent profile analysis found 107 (34.6%) respondents were burned out. In multivariate analysis, exhaustion was independently associated with PEPS adequacy, risk perception, and worklife subscales (adjusted R2 = 0.236, P < 0.001). Cynicism was associated with exhaustion, and PEPS worklife (adjusted R2 = 0.543, P < 0.001). Efficacy was associated with cynicism, PEPS worklife, and active cases (adjusted R2 = 0.152, P < 0.001). Structural equation modelling showed statistically significant direct paths between PEPS areas of worklife and all MBI subscales. Contact with virus, preparation, and PEPS risk perception added to the prediction of MBI exhaustion. Among a sample of Canadian physicians during the COVID-19 pandemic, adequacy of resources, risk perception, and quality of worklife were associated with burnout indices. To mitigate physician burnout organizations should work to improve working conditions, ensure adequate resources, and foster perceived control of risk of transmission.Trial Registration: NCT04379063.
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INTRODUCTION: New parents are faced with many novel stressors, including possible changes to their sexual relationships. Although postpartum sexual concerns appear to be pervasive in new parents, little is known about the severity of these concerns or how they relate to new mothers' and fathers' relationship satisfaction. AIM: To describe the frequency and severity of postpartum sexual concerns and examine associations between frequency and severity of postpartum sexual concerns and relationship satisfaction in new-parent couples. METHODS: Participants were 239 new-parent couples of a healthy infant 3 to 12 months old. Both members of the parenting couple completed an online survey within 1 month of each other. MAIN OUTCOME MEASURES: Frequency and severity of postpartum sexual concerns were assessed using a 20-item Likert-type questionnaire adapted from a previously validated measurement. Relationship satisfaction was assessed with the Couples Satisfaction Index. RESULTS: A wide range of postpartum sexuality concerns was highly prevalent and moderately distressing in new mothers and fathers alike. New fathers' greater severity of postpartum sexual concerns was associated with their own and new mothers' decreased relationship satisfaction, whereas new mothers' greater severity of postpartum sexual concerns was associated only with lower relationship satisfaction in new fathers. In addition, new mothers' greater frequency of postpartum sexual concerns was associated with their own and new fathers' lower relationship satisfaction, whereas new fathers' frequency of postpartum sexual concerns was unrelated to the couples' relationship satisfaction. CONCLUSION: Postpartum sexual concerns are pervasive and moderately distressing in new parents. The increased frequency and severity of these concerns were associated with decreased relationship well-being in both members of the couple. New mothers might need more assistance adjusting to the number of sexual concerns that they are experiencing, whereas new fathers might need more help adjusting to distress related to sexual issues.
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Composición Familiar , Cuidado del Lactante/psicología , Responsabilidad Parental/psicología , Periodo Posparto/psicología , Conducta Sexual/psicología , Adaptación Psicológica , Adulto , Femenino , Humanos , Recién Nacido , Masculino , Relaciones Padres-Hijo , Satisfacción PersonalRESUMEN
BACKGROUND: Cognitive behavioural therapy (CBT) is an evidence-based treatment for anxiety disorders. Many people have difficulty accessing treatment, due to a variety of obstacles. Researchers have therefore explored the possibility of using the Internet to deliver CBT; it is important to ensure the decision to promote such treatment is grounded in high quality evidence. OBJECTIVES: To assess the effects of therapist-supported Internet CBT (ICBT) on remission of anxiety disorder diagnosis and reduction of anxiety symptoms in adults as compared to waiting list control, unguided CBT, or face-to-face CBT. Effects of treatment on quality of life and patient satisfaction with the intervention were also assessed. SEARCH METHODS: We searched the Cochrane Depression, Anxiety and Neurosis Review Group Specialised Register (CCDANCTR) to 16 March 2015. The CCDANCTR includes relevant randomised controlled trials from MEDLINE, EMBASE, PsycINFO and CENTRAL. We also searched online clinical trial registries and reference lists of included studies. We contacted authors to locate additional trials. SELECTION CRITERIA: Each identified study was independently assessed for inclusion by two authors. To be included, studies had to be randomised controlled trials of therapist-supported ICBT compared to a waiting list, attention, information, or online discussion group; unguided CBT (that is, self-help); or face-to-face CBT. We included studies that treated adults with an anxiety disorder (panic disorder, agoraphobia, social phobia, post-traumatic stress disorder, acute stress disorder, generalized anxiety disorder, obsessive compulsive disorder, and specific phobia) defined according to the Diagnostic and Statistical Manual of Mental Disorders III, III-R, IV, IV-TR or the International Classification of Disesases 9 or 10. DATA COLLECTION AND ANALYSIS: Two authors independently assessed the risk of bias of included studies and judged overall study quality. We used data from intention-to-treat analyses wherever possible. We assessed treatment effect for the dichotomous outcome of clinically important improvement in anxiety using a risk ratio (RR) with 95% confidence interval (CI). For disorder-specific and general anxiety symptom measures and quality of life we assessed continuous scores using standardized mean differences (SMD). We examined statistical heterogeneity using the I(2) statistic. MAIN RESULTS: We screened 1736 citations and selected 38 studies (3214 participants) for inclusion. The studies examined social phobia (11 trials), panic disorder with or without agoraphobia (8 trials), generalized anxiety disorder (5 trials), post-traumatic stress disorder (2 trials), obsessive compulsive disorder (2 trials), and specific phobia (2 trials). Eight remaining studies included a range of anxiety disorder diagnoses. Studies were conducted in Sweden (18 trials), Australia (14 trials), Switzerland (3 trials), the Netherlands (2 trials), and the USA (1 trial) and investigated a variety of ICBT protocols. Three primary comparisons were identified, therapist-supported ICBT versus waiting list control, therapist-supported versus unguided ICBT, and therapist-supported ICBT versus face-to-face CBT.Low quality evidence from 11 studies (866 participants) contributed to a pooled risk ratio (RR) of 3.75 (95% CI 2.51 to 5.60; I(2) = 50%) for clinically important improvement in anxiety at post-treatment, favouring therapist-supported ICBT over a waiting list, attention, information, or online discussion group only. The SMD for disorder-specific symptoms at post-treatment (28 studies, 2147 participants; SMD -1.06, 95% CI -1.29 to -0.82; I(2) = 83%) and general anxiety symptoms at post-treatment (19 studies, 1496 participants; SMD -0.75, 95% CI -0.98 to -0.52; I(2) = 78%) favoured therapist-supported ICBT; the quality of the evidence for both outcomes was low.One study compared unguided CBT to therapist-supported ICBT for clinically important improvement in anxiety at post-treatment, showing no difference in outcome between treatments (54 participants; very low quality evidence). At post-treatment there were no clear differences between unguided CBT and therapist-supported ICBT for disorder-specific anxiety symptoms (5 studies, 312 participants; SMD -0.22, 95% CI -0.56 to 0.13; I(2) = 58%; very low quality evidence) or general anxiety symptoms (2 studies, 138 participants; SMD 0.28, 95% CI -2.21 to 2.78; I(2) = 0%; very low quality evidence).Compared to face-to-face CBT, therapist-supported ICBT showed no significant differences in clinically important improvement in anxiety at post-treatment (4 studies, 365 participants; RR 1.09, 95% CI 0.89 to 1.34; I(2) = 0%; low quality evidence). There were also no clear differences between face-to-face and therapist supported ICBT for disorder-specific anxiety symptoms at post-treatment (7 studies, 450 participants; SMD 0.06, 95% CI -0.25 to 0.37; I(2) = 60%; low quality evidence) or general anxiety symptoms at post-treatment (5 studies, 317 participants; SMD 0.17, 95% CI -0.35 to 0.69; I(2) = 78%; low quality evidence).Overall, risk of bias in included studies was low or unclear for most domains. However, due to the nature of psychosocial intervention trials, blinding of participants and personnel, and outcome assessment tended to have a high risk of bias. Heterogeneity across a number of the meta-analyses was substantial, some was explained by type of anxiety disorder or may be meta-analytic measurement artefact due to combining many assessment measures. Adverse events were rarely reported. AUTHORS' CONCLUSIONS: Therapist-supported ICBT appears to be an efficacious treatment for anxiety in adults. The evidence comparing therapist-supported ICBT to waiting list, attention, information, or online discussion group only control was low to moderate quality, the evidence comparing therapist-supported ICBT to unguided ICBT was very low quality, and comparisons of therapist-supported ICBT to face-to-face CBT were low quality. Further research is needed to better define and measure any potential harms resulting from treatment. These findings suggest that therapist-supported ICBT is more efficacious than a waiting list, attention, information, or online discussion group only control, and that there may not be a significant difference in outcome between unguided CBT and therapist-supported ICBT; however, this latter finding must be interpreted with caution due to imprecision. The evidence suggests that therapist-supported ICBT may not be significantly different from face-to-face CBT in reducing anxiety. Future research should explore heterogeneity among studies which is reducing the quality of the evidence body, involve equivalence trials comparing ICBT and face-to-face CBT, examine the importance of the role of the therapist in ICBT, and include effectiveness trials of ICBT in real-world settings. A timely update to this review is needed given the fast pace of this area of research.
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Trastornos de Ansiedad/terapia , Terapia Cognitivo-Conductual/métodos , Internet , Adulto , Anciano , Agorafobia/terapia , Trastorno Depresivo/terapia , Humanos , Persona de Mediana Edad , Trastornos Fóbicos/terapia , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
BACKGROUND: The purpose of this study is to compare the effectiveness of a brief preparation intervention for parental presence during induction of anesthesia (PPIA preparation) with a PPIA with standard preparation (PPIA standard). METHODS: Ninety-three children, aged 2 to 10 years, undergoing elective surgery at a children's hospital participated together with their parents. Parents were randomly assigned to receive either PPIA preparation or PPIA standard before their children's induction of anesthesia. Children of parents assigned to each group were compared on measures of preoperative anxiety, cooperation at induction, emergence delirium, and postoperative pain. Parents were compared on measures of state anxiety and self-efficacy about their role in the operating room (OR). RESULTS: The effectiveness of parental presence in reducing children's preoperative anxiety was not improved by the intervention at the holding stage (P =0.15, Wilcoxon Mann-Whitney odds [WMWodds; 95% confidence interval {CI}] = 1.41 [0.75-3.10]), the point at which the family left the holding area (P = 0.39, WMWodds [95% CI] = 1.18 [0.60-2.45]), the point that they entered the OR (P =0.28, WMWodds [95% CI] = 1.23 [0.65-2.67]), or the point at which the anesthesia mask was introduced (P = 1.3, WMWodds [95% CI] = 1.23 [0.64-2.63]). However, parents who received PPIA preparation trended toward greater self-efficacy about their role in the OR than those who received PPIA standard (P = 0.03, WMWodds [95% CI] = 1.69 [1.07-2.87]). CONCLUSIONS: A brief, video-based intervention aimed at preparing parents to be present for their child's anesthesia induction was not successful in reducing the children's preoperative anxiety. However, it is unclear whether parents included in this study actually performed as instructed in the intervention to reduce their children's anxiety. Future research should monitor parent behavior and support parental performance to reduce their children's preoperative anxiety.
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Anestesia/psicología , Procedimientos Quirúrgicos Electivos/psicología , Relaciones Padres-Hijo , Padres/educación , Padres/psicología , Cuidados Preoperatorios/psicología , Anestesia/métodos , Ansiedad/prevención & control , Ansiedad/psicología , Niño , Preescolar , Procedimientos Quirúrgicos Electivos/métodos , Femenino , Humanos , Masculino , Cuidados Preoperatorios/métodos , Método Simple CiegoRESUMEN
BACKGROUND: Cognitive behavioural therapy (CBT) is an evidence-based treatment for anxiety disorders. Many people have difficulty accessing treatment, due to a variety of obstacles. Researchers have therefore explored the possibility of using the Internet to deliver CBT; it is important to ensure the decision to promote such treatment is grounded in high quality evidence. OBJECTIVES: To assess the effects of therapist-supported Internet CBT on remission of anxiety disorder diagnosis and reduction of anxiety symptoms in adults as compared to waiting list control, unguided CBT, or face-to-face CBT. Effects of treatment on quality of life and patient satisfaction with the intervention were also assessed. SEARCH METHODS: We searched the Cochrane Depression, Anxiety and Neurosis Review Group Specialized Register (CCDANCTR) to 12 April 2013. The CCDANCTR includes relevant randomised controlled trials from EMBASE (1974 -), MEDLINE (1950 -) and PsycINFO (1967 -). We also searched online clinical trial registries and reference lists of included studies. We contacted authors to locate further trials. An update of an initial search (April 2013), conducted in September 2014, identified seven new completed studies, seven previously ongoing studies now completed, and four new ongoing studies. This is a fast-moving area; we plan to update this review shortly, incorporating these new studies. SELECTION CRITERIA: Each identified study was independently assessed for inclusion by two authors. To be included, studies had to be randomised controlled trials of therapist-supported ICBT compared to a waiting list, attention, information, or online discussion group; unguided CBT (that is, self-help); or face-to-face CBT. We included studies that treated adults with an anxiety disorder (panic disorder, agoraphobia, social phobia, post-traumatic stress disorder, acute stress disorder, generalized anxiety disorder, obsessive compulsive disorder, and specific phobia) defined according to the Diagnostic and Statistical Manual of Mental Disorders III, III-R, IV, IV-TR or the International Classification of Disesases 9 or 10. DATA COLLECTION AND ANALYSIS: Two authors independently assessed the risk of bias of included studies and judged overall study quality. We used data from intention-to-treat analyses wherever possible. We assessed treatment effect for the dichotomous outcome of clinically important improvement in anxiety using a risk ratio (RR) with 95% confidence interval (CI). For disorder-specific and general anxiety symptom measures and quality of life we assessed continuous scores using standardized mean differences (SMD). We examined statistical heterogeneity using the I(2) statistic. MAIN RESULTS: We screened 1000 citations and selected 30 studies (2181 participants) for inclusion. The studies examined social phobia (11 trials), panic disorder with or without agoraphobia (8 trials), generalized anxiety disorder (4 trials), post-traumatic stress disorder (1 trial), and specific phobia (1 trial). Five remaining studies included a range of anxiety disorder diagnoses. Studies were conducted in Sweden (15 trials), Australia (12 trials), Switzerland (2 trials), and the Netherlands (1 trial) and investigated a variety of ICBT protocols. Three primary comparisons were identified, experimental versus waiting list control, experimental versus unguided ICBT, and experimental versus face-to-face CBT.Moderate quality evidence from 9 studies (644 participants) contributed to a pooled RR of 4.18 (95% CI 2.42 to 7.22) for clinically important improvement in anxiety at post-treatment, favouring therapist-supported ICBT over a waiting list, attention, information, or online discussion group only. Similarly, the SMD for disorder-specific symptoms at post-treatment (22 studies, 1573 participants; SMD -1.12, 95% CI -1.39 to -0.85) and general anxiety symptoms at post-treatment (14 studies, 1004 participants; SMD -0.79, 95% CI -1.10 to -0.48) favoured therapist-supported ICBT. The quality of the evidence for both outcomes was low.One study compared unguided CBT to therapist-supported ICBT for clinically important improvement in anxiety at post-treatment, showing no difference in outcome between treatments (54 participants; very low quality evidence). At post-treatment there were no clear differences between unguided CBT and therapist-supported ICBT for disorder-specific anxiety symptoms (4 studies, 253 participants; SMD -0.24, 95% CI -0.69 to 0.21; low quality evidence) or general anxiety symptoms (two studies, 138 participants; SMD 0.28, 95% CI -2.21 to 2.78; low quality evidence).Compared to face-to-face CBT, therapist-supported ICBT showed no significant differences in clinically important improvement in anxiety at post-treatment (4 studies, 365 participants; RR 1.09, 95% CI 0.89 to 1.34; moderate quality evidence). There were also no clear differences between face-to-face and therapist supported ICBT for disorder-specific anxiety symptoms at post-treatment (6 studies, 424 participants; SMD 0.09, 95% CI -0.26 to 0.43; low quality evidence) or general anxiety symptoms at post-treatment (5 studies, 317 participants; SMD 0.17, 95% CI -0.35 to 0.69; low quality evidence).Overall, risk of bias in included studies was low or unclear for most domains. However, due to the nature of psychosocial intervention trials, blinding of participants and personnel, and outcome assessment tended to have a high risk of bias. Heterogeneity across a number of the meta-analyses was substantial, some was explained by type of anxiety disorder or may be meta-analytic measurement artefact due to combining many assessment measures. Adverse events were rarely reported. AUTHORS' CONCLUSIONS: Therapist-supported ICBT appears to be an efficacious treatment for anxiety in adults. The evidence comparing therapist-supported ICBT to waiting list, attention, information, or online discussion group only control was low to moderate quality, the evidence comparing therapist-supported ICBT to unguided ICBT was low to very low quality, and comparisons of therapist-supported ICBT to face-to-face CBT was low to moderate quality. Further research is needed to better define and measure any potential harms resulting from treatment. These findings suggest that therapist-supported ICBT is more efficacious than a waiting list, attention, information, or online discussion group only control, and that there may not be a significant difference in outcome between unguided CBT and therapist-supported ICBT; however, this latter finding must be interpreted with caution due to imprecision. The evidence suggests that therapist-supported ICBT may not be significantly different from face-to-face CBT in reducing anxiety. Future research should involve equivalence trials comparing ICBT and face-to-face CBT, examine the importance of the role of the therapist in ICBT, and include effectiveness trials of ICBT in real-world settings. A timely update to this review is needed given the fast pace of this area of research.
Asunto(s)
Trastornos de Ansiedad/terapia , Terapia Cognitivo-Conductual/métodos , Internet , Adulto , Agorafobia/terapia , Trastorno Depresivo/terapia , Humanos , Trastornos Fóbicos/terapia , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
BACKGROUND: A better understanding of early pain trajectories (patterns) following scoliosis surgery and how they relate to baseline patient characteristics and functional outcomes may allow for the development of mitigating strategies to improve patient outcomes. METHODS: This was a prospective cohort study. Adolescents with idiopathic scoliosis were recruited across multiple centers. Latent growth mixture modeling techniques were used to determine pain trajectories over the first postoperative year. RESULTS: The median numerical rating scale for pain in the hospital following surgery for adolescent idiopathic scoliosis was 5.0. It improved to 1.0 by 6 weeks, and was maintained at <1 by 3 to 12 months postoperatively. Three trajectories were identified, 2 of which involved moderate acute postoperative pain: 1 with good resolution and 1 with incomplete resolution by 1 year. The third trajectory involved mild acute postoperative pain with good resolution by 1 year. Membership in the "moderate pain with incomplete resolution" trajectory was predicted by higher baseline pain and anxiety, and patients in this trajectory reported worse quality of life than those in the trajectories with good resolution. CONCLUSIONS: Pain recovery following surgery for idiopathic scoliosis was found to be substantial during the first 6 weeks and continued up to 1 year. We identified 3 main trajectories, 2 with favorable outcomes and 1 with persistent pain and worse quality of life at 1 year postoperatively. The risk factors most associated with the latter trajectory included increased baseline pain and anxiety. LEVEL OF EVIDENCE: Prognostic Level II. See Instructions for Authors for a complete description of levels of evidence.
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According to the National Institute on Drug Abuse (NIDA), more than one hundred people die every day from opioid overdose. Overdose fatalities have risen as the availability of potent synthetic opioids, such as fentanyl, has increased. A forensic postmortem toxicological specimen is often in various stages of decomposition, experiencing autolysis and putrefaction, which complicates the extraction, creating a difficult challenge for toxicologists. Isolating the target drug, while creating an efficient and simplified analytical scheme, is a goal for most toxicology laboratories. The validation of a quick, easy, cheap, effective, rugged and safe extraction protocol is presented in this study as an alternative analytical method for efficient extraction and detection of fentanyl and its major metabolites: norfentanyl and despropionyl fentanyl (4-ANPP). The liquid Chromatography with tandem mass spectrometry analysis was validated following the American Academy of Forensic Sciences Standards Board (ASB) standard 036 proposed requirements. Evaluated parameters include selectivity, matrix effects (MEs), linearity, processed sample stability, bias, precision and proof of applicability using liver samples from authentic postmortem cases. MEs (represented as percent ionization suppression or enhancement) at low and high concentrations were -10.0% and 1.4% for fentanyl, -2.1% and -0.3% for 4-ANPP and 3.1% and 2.8% for norfentanyl, respectively. Bias for the three analytes ranged from -8.5% to -19.9% for the low concentrations, -3.6% to -14.7% for the medium concentrations and 1.5% to -16.1% for the high concentrations with all being within the ±20% guideline. Precision for the three analytes ranged from 2.2% to 15.1%. The linear range for the fentanyl and norfentanyl was 0.5-100 and 4-ANPP had a linear range of 0.4-80 µg/kg. The authentic postmortem liver samples ranged in fentanyl concentrations from 56.6 to 462.3 µg/kg with a mean of 149.2 µg/kg (n = 10). The range of norfentanyl concentrations were 1.9 to 50.0 µg/kg with a mean of 14.1 µg/kg (n = 10). The range of 4-ANPP concentrations were 3.2 to 23.7 µg/kg with a mean of 7.5 µg/kg (n = 7).
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Analgésicos Opioides/metabolismo , Fentanilo/metabolismo , Hígado/metabolismo , Detección de Abuso de Sustancias/métodos , Analgésicos Opioides/análisis , Autopsia , Cromatografía Liquida , Sobredosis de Droga , Fentanilo/análogos & derivados , Fentanilo/análisis , Toxicología Forense , Humanos , Límite de Detección , Cambios Post Mortem , Espectrometría de Masas en TándemRESUMEN
This review covers the current cognitive behavioural treatments available to address fear-avoidance beliefs in patients with chronic musculoskeletal pain (CMP). Four types of treatment protocols were identified for inclusion in the review: (a) graded in vivo exposure (GivE); (b) graded activity (GA); (c) acceptance and commitment therapy (ACT); and (d) mixed cognitive behavioural protocols. Most of the research suggests that GivE and ACT result in the best outcomes for treating fear-avoidance beliefs in patients with CMP. There is also a readily apparent paucity of research from North America; indeed, most of the available studies were conducted in the Netherlands and Scandinavia. This relative absence of North American research raises potentially important questions about the role of compensation status and access to care, which differ between countries, on treatment outcome. Implications and directions for future research are discussed.
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Ansiedad/terapia , Desensibilización Psicológica/métodos , Terapia por Ejercicio/métodos , Miedo/psicología , Enfermedades Musculoesqueléticas/psicología , Manejo del Dolor , Dolor/psicología , Ansiedad/psicología , Enfermedad Crónica , Terapia Cognitivo-Conductual/métodos , Humanos , Modelos Psicológicos , Enfermedades Musculoesqueléticas/complicaciones , Dolor/complicacionesRESUMEN
Many new parents are concerned that they have different levels of interest in sex than their partner. Understanding the role of desire discrepancies in their sexual and relationship satisfaction could help promote adjustment. In community couples, larger desire discrepancies have been inconsistently linked to lower sexual and relationship satisfaction. However, these studies rarely accounted for both the degree and direction (e.g., which partner has higher desire) of the discrepancy. We surveyed 255 mixed-sex new parent couples to assess their sexual desire, sexual satisfaction, and relationship satisfaction. Using polynomial regression with response surface analysis (RSA), we found that desire discrepancies between partners (i.e., when partners were more mismatched as opposed to matched on their levels of sexual desire) were associated with lower sexual (but not relationship) satisfaction for both partners. However, the direction of desire discrepancy mattered: Parents felt less satisfied when mothers were the higher-desire partner compared to when fathers were the higher-desire partner. In addition, when partners' level of sexual desire was in agreement, they were more sexually and relationally satisfied if both partners reported higher compared to lower desire. Results demonstrate the important role of both the magnitude and direction of desire discrepancies in new parent couples.
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Relaciones Interpersonales , Orgasmo , Padres/psicología , Satisfacción Personal , Conducta Sexual/psicología , Esposos/psicología , Adulto , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
Potocki-Shaffer syndrome (PSS) is a contiguous gene deletion syndrome that results from haploinsufficiency of at least two genes within the short arm of chromosome 11[del(11)(p11.2p12)]. The clinical features of PSS can include developmental delay, mental retardation, multiple exostoses, parietal foramina, enlarged anterior fontanel, minor craniofacial anomalies, ophthalmologic anomalies, and genital abnormalities in males. We constructed a natural panel of 11p11.2-p13 deletions using cell lines from 10 affected individuals, fluorescence in situ hybridization (FISH), microsatellite analyses, and array-based comparative genomic hybridization (array CGH). We then compared the deletion sizes and clinical features between affected individuals. The full spectrum of PSS manifests when deletions are at least 2.1 Mb in size, spanning from D11S1393 to D11S1385/D11S1319 (44.6-46.7 Mb from the 11p terminus) and encompassing EXT2, responsible for multiple exostoses, and ALX4, causing parietal foramina. Yet one subject with parietal foramina whose deletion does not include ALX4 indicates that ALX4 in this subject may be rendered functionally haploinsufficient by a position effect. Based on comparative deletion mapping of eight individuals with the full PSS syndrome including mental retardation and two PSS families with no mental retardation, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.
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Anomalías Múltiples/genética , Cromosomas Humanos Par 11/genética , Exostosis Múltiple Hereditaria/genética , Eliminación de Gen , Discapacidad Intelectual/genética , Línea Celular , Niño , Preescolar , Disostosis Craneofacial/genética , Femenino , Genotipo , Humanos , Hibridación Fluorescente in Situ , Masculino , Repeticiones de Microsatélite , Hueso Parietal/anomalías , Fenotipo , Mapeo Físico de Cromosoma , SíndromeRESUMEN
Structural chromosome abnormalities have aided in gene identification for over three decades. Delineation of the deletion sizes and rearrangements allows for phenotype/genotype correlations and ultimately assists in gene identification. In this report, we have delineated the precise rearrangements in four subjects with deletions, duplications, and/or triplications of 1p36 and compared the regions of imbalance to two cases recently published. Fluorescence in situ hybridization (FISH) analysis revealed the size, order, and orientation of the duplicated/triplicated segments in each subject. We propose a premeiotic model for the formation of these complex rearrangements in the four newly ascertained subjects, whereby a deleted chromosome 1 undergoes a combination of multiple breakage-fusion-bridge (BFB) cycles and inversions to produce a chromosome arm with a complex rearrangement of deleted, duplicated and triplicated segments. In addition, comparing the six subjects' rearrangements revealed a region of overlap that when triplicated is associated with craniosynostosis and when deleted is associated with large, late-closing anterior fontanels. Within this region are the MMP23A and -B genes. We show MMP23 gene expression at the cranial sutures and we propose that haploinsufficiency results in large, late-closing anterior fontanels and overexpression results in craniosynostosis. These data emphasize the important role of cytogenetics in investigating and uncovering the etiologies of human genetic disease, particularly cytogenetic imbalances that reveal potentially dosage-sensitive genes.
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Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 1/genética , Suturas Craneales , Duplicación de Gen , Regulación de la Expresión Génica/genética , Eliminación de Secuencia/genética , Animales , Rotura Cromosómica/genética , Trastornos de los Cromosomas/patología , Trastornos de los Cromosomas/fisiopatología , Inversión Cromosómica/genética , Suturas Craneales/patología , Suturas Craneales/fisiopatología , Femenino , Dosificación de Gen , Humanos , Masculino , RatonesAsunto(s)
Medicamentos bajo Prescripción/envenenamiento , Trastornos Relacionados con Sustancias/mortalidad , Adolescente , Adulto , Analgésicos Opioides/envenenamiento , Sobredosis de Droga/mortalidad , Comportamiento de Búsqueda de Drogas , Femenino , Humanos , Masculino , Persona de Mediana Edad , West Virginia/epidemiología , Adulto JovenRESUMEN
In preparation for developing a website to enhance emotional wellness and healthy lifestyle during the perinatal period, this study examined women's informational needs and barriers. Seventy-four women who were pregnant or had given birth completed an online survey inquiring about information needs and preferred sources related to psychosocial aspects and lifestyle behaviors. Information related to healthy diet choices and weight management, followed by exercise, was rated highly as a need. Information related to depression, stress, and anxiety was also rated as important. Health-care providers and the Internet were found to be preferred sources of information. Evidence-based websites can serve as a powerful low-cost educational resource to support and reinforce the health promotion advice received from their health-care providers.
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A sensitive liquid chromatography-tandem mass spectrometry method was developed and validated for the quantitation of oxymorphone (OM) in human whole blood and liver. Sample preparation was done by solid-phase extraction, using deuterated OM as the internal standard. Separation was achieved using a Waters Aquity UPLC HSS T3 column. Analysis utilized positive electrospray ionization and multiple reaction monitoring. As part of the validation, studies were conducted to determine potential interference, selectivity, ion suppression/enhancement and carryover. Calibration model, limit of detection (LOD), lower limit of quantitation (LLOQ), precision and accuracy were also established. The linear range of the method was 2-500 ng/mL in blood and 5-500 ng/g in the liver. The LOD and LLOQ were 2 ng/mL for blood and 5 ng/g for the liver. Blood and/or liver specimens from 30 cases were analyzed. OM concentrations ranged from 23 to 554 ng/mL ( , n = 26) in blood and 48 to 1740 ng/g ( , n = 30) in the liver.
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Causas de Muerte , Cromatografía Líquida de Alta Presión/métodos , Sobredosis de Droga/sangre , Hígado/metabolismo , Oximorfona/sangre , Espectrometría de Masas en Tándem/métodos , Adulto , Autopsia , Calibración , Sobredosis de Droga/metabolismo , Sobredosis de Droga/mortalidad , Femenino , Humanos , Límite de Detección , Modelos Lineales , Hígado/patología , Masculino , Persona de Mediana Edad , Oximorfona/farmacocinética , Oximorfona/envenenamiento , Reproducibilidad de los Resultados , Extracción en Fase Sólida , Espectrometría de Masa por Ionización de Electrospray/métodos , Distribución Tisular , Adulto JovenRESUMEN
OBJECTIVE: The Pain Response Preference Questionnaire (PRPQ) assesses preferences regarding pain-related social support. The initial factor analytic study of the PRPQ conducted with a nonclinical sample identified scales labeled Solicitude, Management, Suppression, and Encouragement. The first aim of the current study was to evaluate whether these scales would be appropriate for use with chronic pain patients. The construct validity of the emerging scales and their relations to pain-related disability were also investigated. METHODS: A large sample of chronic pain patients (N = 300) completed the PRPQ along with self-reports of personality constructs, coping styles, pain severity, and disability. RESULTS: Factor analysis supported a three-factor solution. Two factors were similar to those obtained in its initial evaluation, and were given the identical labels of Solicitude and Suppression. The remaining factor was labeled Activity Direction and was comprised primarily of items that were part of the earlier Management and Encouragement scales. Internally consistent PRPQ scales based on these factors were created. Correlation analyses involving the personality and coping measures provided support for the construct validity of these PRPQ scales. Supportive of their clinical utility, multiple regression analyses indicated that, after adjusting for pain severity, the PRPQ scales accounted for significant variance in disability ratings. CONCLUSIONS: Additional factor analytic research aimed at identifying the most appropriate set of PRPQ scales is warranted. The present findings indicate that the PRPQ scales used in the current study have strong psychometric properties and hold promise as research and clinical tools.
Asunto(s)
Adaptación Psicológica , Dolor Crónico/psicología , Personalidad , Psicometría/instrumentación , Apoyo Social , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Dolor Crónico/fisiopatología , Personas con Discapacidad/psicología , Análisis Factorial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dolor/psicología , Dimensión del Dolor , Psicometría/estadística & datos numéricos , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Phenazepam is a benzodiazepine derivative that has been in clinical use in Russia since 1978 and is not available by prescription in the United States; however, it is attainable through various internet websites, sold either as tablets or as a reference grade crystalline powder. Presented here is the case of a 42-year old Caucasian male who died as the result of combined phenazepam, morphine, codeine, and thebaine intoxication. A vial of white powder labeled "Phenazepam, Purity 99%, CAS No. 51753-57-2, Research Sample", a short straw, and several poppy seed pods were found on the scene. Investigation revealed that the decedent had a history of ordering medications over the internet and that he had consumed poppy seed tea prior to his death. Phenazepam, morphine, codeine, and thebaine were present in the blood at 386, 116, 85, and 72 ng/mL, respectively.
Asunto(s)
Anticonvulsivantes/envenenamiento , Benzodiazepinas/envenenamiento , Bebidas/envenenamiento , Interacciones Alimento-Droga , Papaver/química , Adulto , Codeína/envenenamiento , Resultado Fatal , Humanos , Masculino , Morfina/envenenamiento , Extractos Vegetales , Semillas/química , Tebaína/envenenamientoRESUMEN
Vitreous humor may serve as a useful alternative specimen for oxycodone analysis in death investigations where blood samples are not available or are of poor quality or limited quantity. The purpose of this study was to investigate the relationship between immunoassay results and gas chromatography-mass spectrometry (GC-MS) quantitation of oxycodone in postmortem vitreous humor and blood. When used with vitreous humor calibrators, the Microgenics DRI Oxycodone (EMIT) Assay was found to be linear from 25 to 500 ng/mL with an limit of detection of 25 ng/mL. Vitreous humor and postmortem blood precipitate immunoassay responses in 57 oxycodone-positive cases were found to be correlated (r(2) = 0.69, p < 0.01). Confirmation and quantitation of oxycodone in vitreous humor by GC-MS was linear from 50 to 1000 ng/mL with a limit of detection of 10 ng/mL and a limit of quantitation of 50 ng/mL. In 30 cases, oxycodone vitreous humor concentrations ranged from less than 50 to 945 ng/mL, and blood concentrations ranged from 103 to 768 ng/mL. The average vitreous humor/blood ratio was 1.16 and ranged from 0.12 to 3.26. Disparities between vitreous fluid and blood oxycodone concentrations were seen in a few cases.
Asunto(s)
Técnica de Inmunoensayo de Enzimas Multiplicadas , Cromatografía de Gases y Espectrometría de Masas/métodos , Narcóticos/análisis , Oxicodona/análisis , Cuerpo Vítreo/química , Análisis Químico de la Sangre/métodos , Humanos , Reproducibilidad de los Resultados , Detección de Abuso de Sustancias/métodosRESUMEN
Cocaine is one of the most widely abused drugs and one that is frequently encountered in forensic toxicology laboratories. Most often, the detection of cocaine would lead toxicologists and forensic pathologists to believe that the drug was used illicitly; however, cocaine is an effective local anesthetic and vasoconstrictor and is used clinically in surgeries of the eye, ear, nose, and throat. Therefore, it is important to note that the presence of cocaine and its metabolites in forensic samples cannot always be attributed to abuse and that a thorough investigation and review of medical records is warranted before an informed conclusion can be made. In this case report, a 54-year-old male died three days after an altercation in which he suffered multiple injuries. In addition to natural disease and injuries documented at autopsy, cocaine and its metabolites were detected in the decedent's urine, and a review of surgical records showed that earlier on the day of death, he was administered cocaine clinically during a procedure to repair nasal bone fractures. If not for this comprehensive investigation and review of surgical records, the assumption of cocaine abuse might have otherwise been made and the cause and manner of death incorrectly established.
Asunto(s)
Anestésicos Locales/uso terapéutico , Cocaína/uso terapéutico , Errores Diagnósticos , Toxicología Forense/métodos , Trastornos Relacionados con Sustancias/diagnóstico , Vasoconstrictores/uso terapéutico , Anestésicos Locales/orina , Cocaína/orina , Errores Diagnósticos/prevención & control , Resultado Fatal , Fracturas Óseas/cirugía , Humanos , Masculino , Persona de Mediana Edad , Traumatismo Múltiple/complicaciones , Traumatismo Múltiple/diagnóstico , Traumatismo Múltiple/cirugía , Hueso Nasal/lesiones , Hueso Nasal/cirugía , Detección de Abuso de Sustancias/métodos , Vasoconstrictores/orinaRESUMEN
We demonstrate that satellite III (SatIII) DNA subfamilies cloned from human acrocentric chromosomes arose in the Hominoidea superfamily. Two groups, distinguished by sequence composition, evolved nonconcurrently, with group 2 evolving 16-23 million years ago (MYA) and the more recent group 1 sequences emerging approximately 4.5 MYA. We also show the relative order of emergence of each group 2 subfamily in the various primate species. Our results show that each SatIII subfamily is an independent evolutionary unit, that the rate of evolution is not uniform between species, and that the evolution within a species is not uniform between chromosomes.