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Gamblers and their family members or friends (affected others) can experience stigma and shame due to gambling which can result in a reluctance to seek timely support. However, gamblers and affected others access intersecting health services and talk to friends or family, thereby providing opportunities for early intervention. Three sides of the coin is a group of storytellers with lived experience of gambling harm who use dramatic performance to share personal stories to enhance the understanding of gambling-related harm in allied professions and the broader community. They do this to encourage attitude and behaviour change so that gamblers and affected others receive empathy and support during encounters with these groups. A mixed-methods study was used to explore whether these performances were successful in increasing understanding and changing attitudes and behaviour of allied professionals and the community in the short and longer-term. Data collected immediately post-performance revealed that performances increased understanding of gambling, and improved attitudes and behavioural intent of audience members in relation to gamblers and affected others. Professionals also reported an increased willingness and confidence to discuss gambling harm with clients. Follow-up data demonstrated potential longer-term impact, with respondents continuing to report more positive attitudes towards those affected by gambling harm and professionals being confident to explore gambling issues in their clients and provide appropriate referrals. These finding demonstrate that performance based on lived experience can be a powerful education tool, encouraging deep connection to the issue, resulting in a nuanced understanding and sustained attitudinal and behavioural change.
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BACKGROUND: The presence of discrete but fluctuating precipitants, in combination with the dynamic nature of gambling episodes, calls for the development of tailored interventions delivered in real time, such as just-in-time adaptive interventions (JITAIs). JITAIs leverage mobile and wireless technologies to address dynamically changing individual needs by providing the type and amount of support required at the right time and only when needed. They have the added benefit of reaching underserved populations by providing accessible, convenient, and low-burden support. Despite these benefits, few JITAIs targeting gambling behavior are available. OBJECTIVE: This study aims to redress this gap in service provision by developing and evaluating a theoretically informed and evidence-based JITAI for people who want to reduce their gambling. Delivered via a smartphone app, GamblingLess: In-The-Moment provides tailored cognitive-behavioral and third-wave interventions targeting cognitive processes explicated by the relapse prevention model (cravings, self-efficacy, and positive outcome expectancies). It aims to reduce gambling symptom severity (distal outcome) through short-term reductions in the likelihood of gambling episodes (primary proximal outcome) by improving craving intensity, self-efficacy, or expectancies (secondary proximal outcomes). The primary aim is to explore the degree to which the delivery of a tailored intervention at a time of cognitive vulnerability reduces the probability of a subsequent gambling episode. METHODS: GamblingLess: In-The-Moment interventions are delivered to gamblers who are in a state of receptivity (available for treatment) and report a state of cognitive vulnerability via ecological momentary assessments 3 times a day. The JITAI will tailor the type, timing, and amount of support for individual needs. Using a microrandomized trial, a form of sequential factorial design, each eligible participant will be randomized to a tailored intervention condition or no intervention control condition at each ecological momentary assessment across a 28-day period. The microrandomized trial will be supplemented by a 6-month within-group follow-up evaluation to explore long-term effects on primary (gambling symptom severity) and secondary (gambling behavior, craving severity, self-efficacy, and expectancies) outcomes and an acceptability evaluation via postintervention surveys, app use and engagement indices, and semistructured interviews. In all, 200 participants will be recruited from Australia and New Zealand. RESULTS: The project was funded in June 2019, with approval from the Deakin University Human Research Ethics Committee (2020-304). Stakeholder user testing revealed high acceptability scores. The trial began on March 29, 2022, and 84 participants have been recruited (as of June 24, 2022). Results are expected to be published mid-2024. CONCLUSIONS: GamblingLess: In-The-Moment forms part of a suite of theoretically informed and evidence-based web-based and mobile gambling interventions. This trial will provide important empirical data that can be used to facilitate the JITAI's optimization to make it a more effective, efficient, and scalable tailored intervention. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry (ANZCTR) ACTRN12622000490774; https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=380757&isClinicalTrial=False. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/38958.
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BACKGROUND: People with gambling problems frequently report repeated unsuccessful attempts to change their behavior. Although many behavior change techniques are available to individuals to reduce gambling harm, they can be challenging to implement or maintain. The provision of implementation support tailored for immediate, real-time, individualized circumstances may improve attempts at behavior change. OBJECTIVE: We aimed to develop and evaluate a Just-In-Time Adaptive Intervention (JITAI) for individuals who require support to adhere to their gambling limits. JITAI development is based on the principles of the Health Action Process Approach with delivery, in alignment with the principles of self-determination theory. The primary objective was to determine the effect of action- and coping planning compared with no intervention on the goal of subsequently adhering to gambling expenditure limits. METHODS: Gambling Habit Hacker is delivered as a JITAI providing in-the-moment support for adhering to gambling expenditure limits (primary proximal outcome). Delivered via a smartphone app, this JITAI delivers tailored behavior change techniques related to goal setting, action planning, coping planning, and self-monitoring. The Gambling Habit Hacker app will be evaluated using a 28-day microrandomized trial. Up to 200 individuals seeking support for their own gambling from Australia and New Zealand will set a gambling expenditure limit (ie, goal). They will then be asked to complete 3 time-based ecological momentary assessments (EMAs) per day over a 28-day period. EMAs will assess real-time adherence to gambling limits, strength of intention to adhere to goals, goal self-efficacy, urge self-efficacy, and being in high-risk situations. On the basis of the responses to each EMA, participants will be randomized to the control (a set of 25 self-enactable strategies containing names only and no implementation information) or intervention (self-enactable strategy implementation information with facilitated action- and coping planning) conditions. This microrandomized trial will be supplemented with a 6-month within-group follow-up that explores the long-term impact of the app on gambling expenditure (primary distal outcome) and a range of secondary outcomes, as well as an evaluation of the acceptability of the JITAI via postintervention surveys, app use and engagement indices, and semistructured interviews. This trial has been approved by the Deakin University Human Research Ethics Committee (2020-304). RESULTS: The intervention has been subject to expert user testing, with high acceptability scores. The results will inform a more nuanced version of the Gambling Habit Hacker app for wider use. CONCLUSIONS: Gambling Habit Hacker is part of a suite of interventions for addictive behaviors that deliver implementation support grounded in lived experience. This study may inform the usefulness of delivering implementation intentions in real time and in real-world settings. It potentially offers people with gambling problems new support to set their gambling intentions and adhere to their limits. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry ACTRN12622000497707; www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=383568. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/38919.
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PURPOSE: Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach. METHODS: Whole-genome copy-number findings in patients with melanoma predisposition syndrome congenital melanocytic nevus were extrapolated to a sporadic melanoma cohort. Functional effects of duplications in PPP2R3B were investigated using immunohistochemistry, transcriptomics, and stable inducible cellular models, themselves characterized using RNAseq, quantitative real-time polymerase chain reaction (qRT-PCR), reverse phase protein arrays, immunoblotting, RNA interference, immunocytochemistry, proliferation, and migration assays. RESULTS: We identify here a previously unreported genetic susceptibility to melanoma and melanocytic nevi, familial duplications of gene PPP2R3B. This encodes PR70, a regulatory unit of critical phosphatase PP2A. Duplications increase expression of PR70 in human nevus, and increased expression in melanoma tissue correlates with survival via a nonimmunological mechanism. PPP2R3B overexpression induces pigment cell switching toward proliferation and away from migration. Importantly, this is independent of the known microphthalmia-associated transcription factor (MITF)-controlled switch, instead driven by C21orf91. Finally, C21orf91 is demonstrated to be downstream of MITF as well as PR70. CONCLUSION: This work confirms the power of a rare disease approach, identifying a previously unreported copy-number change predisposing to melanocytic neoplasia, and discovers C21orf91 as a potentially targetable hub in the control of phenotype switching.
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Melanoma , Nevo , Neoplasias Cutáneas , Humanos , Inmunohistoquímica , Melanoma/genética , Fenotipo , Neoplasias Cutáneas/genéticaRESUMEN
Recurrent pregnancy loss (RPL) is defined as two or more consecutive miscarriages and affects an estimated 1.5% of couples trying to conceive. RPL has been attributed to genetic, endocrine, immune and thrombophilic disorders, but many cases remain unexplained. We investigated a Bangladeshi family where the proband experienced 29 consecutive pregnancy losses with no successful pregnancies from three different marriages. Whole exome sequencing identified rare genetic variants in several candidate genes. These were further investigated in Asian and white European RPL cohorts, and in Bangladeshi controls. FKBP4, encoding the immunophilin FK506-binding protein 4, was identified as a plausible candidate, with three further novel variants identified in Asian patients. None were found in European patients or controls. In silico structural studies predicted damaging effects of the variants in the structure-function properties of the FKBP52 protein. These were located within domains reported to be involved in Hsp90 binding and peptidyl-prolyl cis-trans isomerase (PPIase) activity. Profound effects on PPIase activity were demonstrated in transiently transfected HEK293 cells comparing wild-type and mutant FKBP4 constructs. Mice lacking FKBP4 have been previously reported as infertile through implantation failure. This study therefore strongly implicates FKBP4 as associated with fetal losses in humans, particularly in the Asian population.
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Aborto Habitual/genética , Secuenciación del Exoma/métodos , Proteínas de Unión a Tacrolimus/genética , Exoma/genética , Femenino , Predisposición Genética a la Enfermedad , Células HEK293 , Humanos , Mutación Missense/genética , Linaje , Embarazo , Estructura Secundaria de ProteínaRESUMEN
BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk. MC1R mutations affecting human skin and hair color also have pleiotropic effects on the immune response and analgesia. Variants affecting human pigmentation in utero alter the congenital phenotype of both oculocutaneous albinism and congenital melanocytic naevi, and have a possible effect on birthweight. METHODS AND RESULTS: By in situ hybridization, RT-PCR and immunohistochemistry, we show that MC1R is widely expressed during human, chick and mouse embryonic and fetal stages in many somatic tissues, particularly in the musculoskeletal and nervous systems, and conserved across evolution in these three amniotes. Its dynamic pattern differs from that of TUBB3, a gene overlapping the same locus in humans and encoding class III ß-tubulin. The αMSH peptide and the transcript for its precursor, pro-opiomelanocortin (POMC), are similarly present in numerous extra-cutaneous tissues. MC1R genotyping of variants p.(V60M) and p.(R151C) was undertaken for 867 healthy children from the Avon Longitudinal Study of Parent and Children (ALSPAC) cohort, and birthweight modeled using multiple logistic regression analysis. A significant positive association initially found between R151C and birth weight, independent of known birth weight modifiers, was not reproduced when combined with data from an independent genome-wide association study of 6,459 additional members of the same cohort. CONCLUSIONS: These data clearly show a new and hitherto unsuspected role for MC1R in noncutaneous solid tissues before birth.
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Proteínas Aviares/biosíntesis , Embrión de Mamíferos/metabolismo , Desarrollo Embrionario/fisiología , Regulación del Desarrollo de la Expresión Génica/fisiología , Receptor de Melanocortina Tipo 1/biosíntesis , Animales , Embrión de Pollo , Embrión de Mamíferos/citología , Humanos , RatonesRESUMEN
Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neurovascular, ophthalmological, overgrowth, and malignant complications. Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. The mutations were detected at very low levels in affected tissues but were undetectable in the blood, indicating that these conditions are postzygotic mosaic disorders. In vitro expression of mutant GNA11(R183C) and GNA11(Q209L) in human cell lines demonstrated activation of the downstream p38 MAPK signaling pathway and the p38, JNK, and ERK pathways, respectively. Transgenic mosaic zebrafish models expressing mutant GNA11(R183C) under promoter mitfa developed extensive dermal melanocytosis recapitulating the human phenotype. Phakomatosis pigmentovascularis and extensive dermal melanocytosis are therefore diagnoses in the group of mosaic heterotrimeric G-protein disorders, joining McCune-Albright and Sturge-Weber syndromes. These findings will allow accurate clinical and molecular diagnosis of this subset of common birthmarks, thereby identifying infants at risk for serious complications, and provide novel therapeutic opportunities.
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Subunidades alfa de la Proteína de Unión al GTP/genética , Mancha Mongólica/genética , Mutación , Síndromes Neurocutáneos/genética , Enfermedades de la Piel/genética , Alelos , Animales , Animales Modificados Genéticamente , Secuencia de Bases , Análisis Mutacional de ADN , Subunidades alfa de la Proteína de Unión al GTP Gq-G11 , Células HEK293 , Humanos , Lactante , Datos de Secuencia Molecular , Mutación Missense , Fenotipo , Fosforilación , Transducción de Señal , Pez CebraRESUMEN
Identifying the genetic input for fetal growth will help to understand common, serious complications of pregnancy such as fetal growth restriction. Genomic imprinting is an epigenetic process that silences one parental allele, resulting in monoallelic expression. Imprinted genes are important in mammalian fetal growth and development. Evidence has emerged showing that genes that are paternally expressed promote fetal growth, whereas maternally expressed genes suppress growth. We have assessed whether the expression levels of key imprinted genes correlate with fetal growth parameters during pregnancy, either early in gestation, using chorionic villus samples (CVS), or in term placenta. We have found that the expression of paternally expressing insulin-like growth factor 2 (IGF2), its receptor IGF2R, and the IGF2/IGF1R ratio in CVS tissues significantly correlate with crown-rump length and birthweight, whereas term placenta expression shows no correlation. For the maternally expressing pleckstrin homology-like domain family A, member 2 (PHLDA2), there is no correlation early in pregnancy in CVS but a highly significant negative relationship in term placenta. Analysis of the control of imprinted expression of PHLDA2 gave rise to a maternally and compounded grand-maternally controlled genetic effect with a birthweight increase of 93/155 g, respectively, when one copy of the PHLDA2 promoter variant is inherited. Expression of the growth factor receptor-bound protein 10 (GRB10) in term placenta is significantly negatively correlated with head circumference. Analysis of the paternally expressing delta-like 1 homologue (DLK1) shows that the paternal transmission of type 1 diabetes protective G allele of rs941576 single nucleotide polymorphism (SNP) results in significantly reduced birth weight (-132 g). In conclusion, we have found that the expression of key imprinted genes show a strong correlation with fetal growth and that for both genetic and genomics data analyses, it is important not to overlook parent-of-origin effects.
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Desarrollo Fetal/genética , Desarrollo Fetal/fisiología , Regulación del Desarrollo de la Expresión Génica/fisiología , Impresión Genómica/genética , Placenta/metabolismo , Peso al Nacer/fisiología , Proteínas de Unión al Calcio , Vellosidades Coriónicas/metabolismo , Femenino , Regulación del Desarrollo de la Expresión Génica/genética , Humanos , Factor II del Crecimiento Similar a la Insulina/metabolismo , Péptidos y Proteínas de Señalización Intercelular/metabolismo , Proteínas de la Membrana/metabolismo , Proteínas Nucleares/metabolismo , Embarazo , Receptores de Somatomedina/metabolismoRESUMEN
Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. We used homozygosity mapping and whole-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in two families. A homozygous splice site mutation was identified by Sanger sequencing of SNX14 in a third family, selected purely by phenotypic similarity. This discovery confirms that these characteristic features represent a distinct and recognizable syndrome. SNX14 encodes a cellular protein containing Phox (PX) and regulator of G protein signaling (RGS) domains. Weighted gene coexpression network analysis predicts that SNX14 is highly coexpressed with genes involved in cellular protein metabolism and vesicle-mediated transport. All three mutations either directly affected the PX domain or diminished SNX14 levels, implicating a loss of normal cellular function. This manifested as increased cytoplasmic vacuolation as observed in cultured fibroblasts. Our findings indicate an essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum.
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Ataxia Cerebelosa/genética , Discapacidad Intelectual/genética , Nexinas de Clasificación/genética , Secuencia de Bases , Ataxia Cerebelosa/patología , Mapeo Cromosómico , Codón sin Sentido/genética , Femenino , Fibroblastos/ultraestructura , Redes Reguladoras de Genes/genética , Genes Recesivos/genética , Humanos , Discapacidad Intelectual/patología , Masculino , Microscopía Electrónica , Datos de Secuencia Molecular , Linaje , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ADNRESUMEN
CONTEXT: Fetal growth involves highly complex molecular pathways. IGF2 is a key paternally expressed growth hormone that is critical for in utero growth in mice. Its role in human fetal growth has remained ambiguous, as it has only been studied in term tissues. Conversely the maternally expressed growth suppressor, PHLDA2, has a significant negative correlation between its term placental expression and birth weight. OBJECTIVE: The aim of this study is to address the role in early gestation of expression of IGF1, IGF2, their receptors IGF1R and IGF2R, and PHLDA2 on term birth weight. DESIGN: Real-time quantitative PCR was used to investigate mRNA expression of IGF1, IGF2, IGF1R, IGF2R and PHLDA2 in chorionic villus samples (CVS) (n = 260) collected at 11-13 weeks' gestation. Expression was correlated with term birth weight using statistical package R including correction for several confounding factors. RESULTS: Transcript levels of IGF2 and IGF2R revealed a significant positive correlation with birth weight (0.009 and 0.04, respectively). No effect was observed for IGF1, IGF1R or PHLDA2 and birth weight. Critically, small for gestational age (SGA) neonates had significantly lower IGF2 levels than appropriate for gestational age neonates (p = 3.6 × 10(-7)). INTERPRETATION: Our findings show that IGF2 mRNA levels at 12 weeks gestation could provide a useful predictor of future fetal growth to term, potentially predicting SGA babies. SGA babies are known to be at a higher risk for type 2 diabetes. This research reveals an imprinted, parentally driven rheostat for in utero growth.
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Peso al Nacer , Vellosidades Coriónicas/metabolismo , Impresión Genómica , Factor II del Crecimiento Similar a la Insulina/genética , Secuencia de Bases , Cartilla de ADN , Humanos , Masculino , Reacción en Cadena en Tiempo Real de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in NRAS, BRAF, and Tp53 have been described in individual CMN samples; however, their role in the pathogenesis of multiple CMN within the same subject and development of associated features has not been clear. We hypothesized that a single postzygotic mutation in NRAS could be responsible for multiple CMN in the same individual, as well as for melanocytic and nonmelanocytic central nervous system (CNS) lesions. From 15 patients, 55 samples with multiple CMN were sequenced after site-directed mutagenesis and enzymatic digestion of the wild-type allele. Oncogenic missense mutations in codon 61 of NRAS were found in affected neurological and cutaneous tissues of 12 out of 15 patients, but were absent from unaffected tissues and blood, consistent with NRAS mutation mosaicism. In 10 patients, the mutation was consistently c.181C>A, p.Q61K, and in 2 patients c.182A>G, p.Q61R. All 11 non-melanocytic and melanocytic CNS samples from 5 patients were mutation positive, despite NRAS rarely being reported as mutated in CNS tumors. Loss of heterozygosity was associated with the onset of melanoma in two cases, implying a multistep progression to malignancy. These results suggest that single postzygotic NRAS mutations are responsible for multiple CMN and associated neurological lesions in the majority of cases.
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GTP Fosfohidrolasas/genética , Melanosis/genética , Proteínas de la Membrana/genética , Síndromes Neurocutáneos/genética , Nevo Pigmentado/genética , Neoplasias Cutáneas/genética , Adolescente , Neoplasias del Sistema Nervioso Central/epidemiología , Neoplasias del Sistema Nervioso Central/genética , Neoplasias del Sistema Nervioso Central/patología , Niño , Preescolar , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Predisposición Genética a la Enfermedad/genética , Hamartoma/epidemiología , Hamartoma/genética , Hamartoma/patología , Humanos , Pérdida de Heterocigocidad/genética , Imagen por Resonancia Magnética , Masculino , Melanosis/congénito , Melanosis/epidemiología , Neoplasias Meníngeas/epidemiología , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/patología , Meningioma/epidemiología , Meningioma/genética , Meningioma/patología , Mosaicismo , Mutación Missense/genética , Síndromes Neurocutáneos/congénito , Síndromes Neurocutáneos/epidemiología , Nevo Pigmentado/congénito , Nevo Pigmentado/epidemiología , Prevalencia , Factores de Riesgo , Neoplasias Cutáneas/congénito , Neoplasias Cutáneas/epidemiología , Adulto Joven , CigotoRESUMEN
Young people are a high risk group for gambling problems and university (college) students fall into that category. Given the high accessibility of gambling in Australia and its association with entertainment, students from overseas countries, particularly those where gambling is restricted or illegal, may be particularly vulnerable. This study examines problem gambling and its correlates among international and domestic university students using a sample of 836 domestic students (286 males; 546 females); and 764 international students (369 males; 396 females) at three Australian universities. Our findings indicate that although most students gamble infrequently, around 5 % of students are problem gamblers, a proportion higher than that in the general adult population. Popular gambling choices include games known to be associated with risk (cards, horse races, sports betting, casino games, and gaming machines) as well as lotto/scratch tickets. Males are more likely to be problem gamblers than females, and almost 10 % of male international students could be classified as problem gamblers. Hierarchical regression analysis showed that male gender, international student status, financial stress, negative affect and frequency of gambling on sports, horses/dogs, table games, casino gaming machines, internet casino games and bingo all significantly predicted problem gambling. Results from this study could inform gambling-education programs in universities as they indicate which groups are more vulnerable and specify which games pose more risk of problem gambling.
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Juego de Azar/psicología , Intercambio Educacional Internacional , Estudiantes/psicología , Universidades , Adulto , Afecto , Australia/epidemiología , Femenino , Juego de Azar/epidemiología , Humanos , Masculino , Factores de Riesgo , Factores Sexuales , Estrés Psicológico/psicología , Estudiantes/estadística & datos numéricos , Adulto JovenRESUMEN
Mental health issues such as depression or anxiety and alcohol or other drug (AOD) problems often remain undiagnosed and untreated despite their prevalence in the community. This paper reports on the implementation and evaluation of an AOD and depression/anxiety screening programme within two Community Health Services (CHS) in Australia. Study 1 examined results from 5 weeks of screening (March-April 2008) using the Patient Health Questionnaire (two- and nine-item, Kroenke et al. 2001, 2003), the Conjoint Screen for Alcohol and other Drug Problems (Brown et al. 2001) and the Alcohol, Smoking and Substance Involvement Screening Test (Humeniuk & Ali 2006). Of the 55 clients screened, 33% were at risk of depression or anxiety, 22% reporting moderate-severe depression. Thirteen per cent were at risk of substance use disorders. A substantial proportion of at-risk clients were not currently accessing help for these issues from the CHS and therefore screening can facilitate identification and treatment referral. However, the majority of eligible clients were not screened, limiting screening reach. A second study evaluated the screening implementation from a process perspective via thematic analysis of focus group data from six managers and 14 intake/assessment workers (April 2008). This showed that when screening occurred, it facilitated opportunities for education and intervention with at-risk clients, although cultural mores, privacy concerns and shame/stigma could affect accuracy of screen scores at times. Importantly, the evaluation revealed that most decisions not to screen were made by workers, not by clients. Reasons for non-screening related to worker discomfort in asking sensitive questions and/or managing client distress, and a reluctance to spend long periods of time screening in time-pressured environments. The evaluation suggested that these problems could be resolved by splitting screening responsibilities, enhancing worker training and expanding follow-up screening. Findings will inform any community-based health system considering introducing screening.
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Trastornos de Ansiedad/diagnóstico , Servicios de Salud Comunitaria/organización & administración , Depresión/diagnóstico , Detección de Abuso de Sustancias/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Factibilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Victoria , Adulto JovenRESUMEN
BACKGROUND: SUMO1 has been implicated as having a role in the causation of cleft lip with or without cleft palate (CLP), both directly and through association studies in humans and, perhaps more controversially, in transgenic mouse studies. METHODS: To screen for sequence variants that might be responsible for human CLP, we performed direct DNA sequence analysis in a well-characterized white European cohort of 192 patients. We screened the genes encoding SUMO1, SUMO2, and SUMO3, as well as the E3 ligases PIAS1 and PIAS2, which are required for sumoylation. Variants were analyzed in a cohort of 192 unaffected white European controls. RESULTS: Only two missense variants were identified, both within SUMO3, however, these were both present in multiple affected individuals and a similar number of controls. Other variants identified, apart from a single synonymous change in PIAS1, were all present within flanking intronic regions distant from splice consensus sites. Moreover, most other variants were previously reported in dbSNP and were shown to be present at a similar frequency in cases and controls. CONCLUSIONS: Our findings indicate that mutations identified in the SUMO-related genes tested, including three novel coding SNPs, do not directly contribute to the incidence of CLP.
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Labio Leporino/genética , Fisura del Paladar/genética , Ubiquitinas/genética , Población Blanca/genética , Adulto , Estudios de Casos y Controles , Niño , Estudios de Cohortes , Femenino , Genotipo , Humanos , Intrones , Masculino , Mutación Missense , Polimorfismo de Nucleótido Simple , Proteínas Inhibidoras de STAT Activados/genética , Proteína SUMO-1/genética , Análisis de Secuencia de ADN , Proteínas Modificadoras Pequeñas Relacionadas con Ubiquitina/genéticaRESUMEN
Despite the prevalence of gambling world-wide, relatively few individuals become problem gamblers. Additionally many problem gamblers recover without professional assistance. The current study aim was to examine how individuals self-manage their gambling through (a) assessing frequency of use of a range of self-regulation strategies (b) examining how these strategies cluster and (c) exploring relationships between strategies, gambling frequency, amount spent and problem gambling severity. A sample of 303 gamblers was recruited, over-sampling for problem gamblers as assessed by the Problem Gambling Severity Index (PGSI) of the Canadian Problem Gambling Index (mean age 26.4 years, SD = 10.1 years; 119 males, 184 females; 238 social gamblers, 63 problem gamblers, 2 unclassified). They rated extent of usage of 27 gambling self-management techniques and completed the PGSI and other gambling measures. Factor analysis of items produced five factors, named Cognitive Approaches, Direct Action, Social Experience, Avoidance and Limit Setting. The relationships between these factors and key gambling variables were consistent with hypotheses that problem gamblers trying to reduce their gambling would be more likely to use the strategies than other gambler groups. The potential for developing the factors into a Gambling Self-regulation Measure was explored.
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Juego de Azar/psicología , Control Interno-Externo , Adulto , Femenino , Humanos , Masculino , Índice de Severidad de la Enfermedad , Conducta Social , Adulto JovenRESUMEN
Commonality in etiology and clinical expression plus high comorbidity between pathological gambling and substance use disorders suggest common underlying motives. It is important to understand common motivators and differentiating factors. An overarching framework of addiction was used to examine predictors of problem gambling in current electronic gaming machine (EGM) gamblers. Path analysis was used to examine the relationships between antecedent factors (stressors, coping habits, social support), gambling motivations (avoidance, accessibility, social) and gambling behavior. Three hundred and forty seven (229 females: M = 29.20 years, SD = 14.93; 118 males: M = 29.64 years, SD = 12.49) people participated. Consistent with stress, coping and addiction theory, situational life stressors and general avoidance coping were positively related to avoidance-motivated gambling. In turn, avoidance-motivated gambling was positively related to EGM gambling frequency and problems. Consistent with exposure theory, life stressors were positively related to accessibility-motivated gambling, and accessibility-motivated gambling was positively related to EGM gambling frequency and gambling problems. These findings are consistent with other addiction research and suggest avoidance-motivated gambling is part of a more generalized pattern of avoidance coping with relative accessibility to EGM gambling explaining its choice as a method of avoidance. Findings also showed social support acted as a direct protective factor in relation to gambling frequency and problems and indirectly via avoidance and accessibility gambling motivations. Finally, life stressors were positively related to socially motivated gambling but this motivation was not related to either social support or gambling behavior suggesting it has little direct influence on gambling problems.
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Adaptación Psicológica , Conducta Adictiva/psicología , Juego de Azar/psicología , Juegos de Video/psicología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Reacción de Prevención , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Modelos Psicológicos , Motivación , Teoría Psicológica , Autoinforme , Índice de Severidad de la Enfermedad , Apoyo Social , Estrés Psicológico/psicología , Adulto JovenRESUMEN
OBJECTIVE: To identify the type and proportion of depressive and related mental health disorders in a group of individuals seeking outpatient treatment at an alcohol and other drug (AOD) service. DESIGN, SETTING AND PARTICIPANTS: A cross-sectional study using diagnostic interviews with 95 participants (56 men, 39 women) seeking treatment from an AOD service. MAIN OUTCOME MEASURES: Mental health and substance disorders were measured using the Composite International Diagnostic Interview, Posttraumatic Stress Disorder Checklist, Beck Depression Inventory, and State-Trait Anxiety Inventory (Trait Version). RESULTS: This was a complex group with addiction, mental health and physical health conditions; 76% had a depressive disorder and 71% had an anxiety disorder. Most were diagnosed with at least two mental health disorders and 25% were diagnosed with four or more different disorders. Alcohol and cannabis use were the most commonly diagnosed AOD disorders. Further, those diagnosed with a drug use disorder reported significantly higher levels of depression compared with those with an alcohol-only disorder. Finally, 60% of the sample reported chronic health conditions, with over one-third taking medication for a physical condition on a regular basis. CONCLUSIONS: Primary care providers such as general practitioners are likely to be increasingly called on to assess, treat and/or coordinate care of patients with AOD disorders. We show that this group will likely present to their GP with more than one mental health disorder in addition to acute and chronic physical health conditions.
Asunto(s)
Trastornos de Ansiedad/epidemiología , Depresión/epidemiología , Trastornos Relacionados con Sustancias/epidemiología , Adulto , Instituciones de Atención Ambulatoria , Trastornos de Ansiedad/diagnóstico , Australia/epidemiología , Estudios Transversales , Depresión/diagnóstico , Femenino , Humanos , Entrevista Psicológica , Masculino , Análisis Multivariante , Índice de Severidad de la Enfermedad , Trastornos Relacionados con Sustancias/terapiaRESUMEN
Geographic closeness of gambling venues is not the only aspect of accessibility likely to affect gambling frequency. Perceived accessibility of gambling venues may include other features such as convenience (e.g., opening hours) or "atmosphere". The aim of the current study was to develop a multidimensional measure of gamblers' perceptions of accessibility, and present evidence for its reliability and validity. We surveyed 303 gamblers with 43 items developed to measure different dimensions of accessibility. Factor analysis of the items produced a two factor solution. The first, Social Accessibility related to the level at which gambling venues were enjoyed because they were social places, provided varying entertainment options and had a pleasant atmosphere. The second factor, Accessible Retreat related to the degree to which venues were enjoyed because they were geographically and temporally available and provided a familiar and anonymous retreat with few interruptions or distractions. Both factors, developed as reliable subscales of the new Gambling Access Scale, demonstrated construct validity through their correlations with other gambling-related measures. Social Accessibility was moderately related to gambling frequency and amount spent, but not to problem gambling, while, as hypothesised, Accessible Retreat was associated with stronger urges to gamble and gambling problems.
Asunto(s)
Actitud Frente a la Salud , Conducta Adictiva/psicología , Juego de Azar/psicología , Recreación/psicología , Recompensa , Autoimagen , Adulto , Anciano , Femenino , Humanos , Control Interno-Externo , Masculino , Persona de Mediana Edad , Motivación , Características de la Residencia/estadística & datos numéricos , Medio Social , Victoria , Adulto JovenRESUMEN
Electronic gambling machines (EGMs) are known to be a particularly risky form of gambling (Petry. Addiction 98(5):645-655, 2003). It is vital that researchers and clinicians are aware of factors which could lead to people having problems with this form. Gambling motivation is one such factor. This study developed a measure of EGM gambling motivations based on the results of qualitative research conducted with EGM problem gamblers and experienced counsellors (Thomas et al. Int J Mental Health Addiction 7:97-107, 2009). A community based sample of 232 females (M = 29.60 years of age, SD = 15.41 years) and 123 males (M = 29.64 years of age, SD = 12.29 years) participated. Exploratory factor analysis extracted three motivational factors indicating people gambled on EGMs to escape, for its accessibility and for the social environment. Gambling to escape and for its accessibility had substantial positive correlations with frequency of EGM gambling and gambling problems. Social environment correlated less well with these indicators of excessive gambling. Correlations between factors suggested the accessible, social experience offered by EGM venues increases their appeal as a means of escape. The new subscales were internally consistent and demonstrated good evidence of validity. This new measure will facilitate future investigations into the relationships between gambling motivations, other aetiological factors and EGM problem gambling.