Lived Experience Performance to Reduce Stigma, Enhance Understanding of Gambling Harm and Change Attitudes and Behaviours of Professionals and Community Members.

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.

A Gambling Just-In-Time Adaptive Intervention (GamblingLess: In-The-Moment): Protocol for a Microrandomized Trial.

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.

Smartphone App Delivery of a Just-In-Time Adaptive Intervention for Adult Gamblers (Gambling Habit Hacker): Protocol for a Microrandomized Trial.

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.

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

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.

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.

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.

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

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.

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.

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.

The role and interaction of imprinted genes in human fetal growth.

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.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

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.

Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.

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.

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

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.

Introducing mental health and substance use screening into a community-based health service in Australia: usefulness and implications for service change.

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.

Problem gambling among international and domestic university students in Australia: who is at risk?

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.

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

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.

The self-regulation of gambling.

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.

Gaming machine addiction: the role of avoidance, accessibility and social support.

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.

Identifying depression and anxiety disorders in people presenting for substance use treatment.

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).

Implementation and evaluation of brief depression and anxiety screening in clients contacting a drug and alcohol service.

Introduction And Aims: High prevalence mental health (HPMH) comorbidity is common in clients seeking alcohol and other drug (AOD) treatment yet can remain undetected. Although research has reported on the introduction of screening into AOD services, little research has reported on the processes surrounding the introduction or evaluated its effectiveness. This study reports on the implementation and evaluation of brief anxiety and depression screening within a specialised, publicly funded AOD service in South-East Victoria.

Gambling accessibility: a scale to measure gambler preferences.

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.

Electronic gaming machine gambling: measuring motivation.

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.

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.

One of the primary functions of skin is to form a defensive barrier against external infections and water loss. Disrupted barrier function underlies the most severe and often lethal form of recessive congenital ichthyosis, harlequin ichthyosis (HI). HI is associated with mutations in the gene that encodes the ABC transporter protein, ABCA12.

A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro.

A large proportion of recessive nonsyndromic hearing loss is due to mutations in the GJB2 gene encoding connexin 26 (Cx26), a component of a gap junction. Within different ethnic groups there are specific common recessive mutations, each with a relatively high carrier frequency, suggesting the possibility of heterozygous advantage. Carriers of the R143W GJB2 allele, the most prevalent in the African population, present with a thicker epidermis than noncarriers.

ABCA12 is the major harlequin ichthyosis gene.

Harlequin ichthyosis (HI) is the most severe form of autosomal-recessive, congenital ichthyosis. Affected infants have markedly impaired barrier function and are more susceptible to infection. Abnormalities in the localization of epidermal lipids as well as abnormal lamellar granule formation are features of HI skin.