ABSTRACT
Otitis media (OM) is a common childhood disease characterised by middle ear inflammation following infection. Susceptibility to recurrent acute OM (rAOM) and chronic OM with effusion (COME) is highly heritable. Two murine mutants, Junbo and Jeff, spontaneously develop severe OM with similar phenotypes to human disease. Fine-mapping of these mutants identified two genes (Evi1 and Fbxo11) that interact with the transforming growth factor ß (TGFß) signalling pathway. We investigated these genes, as well as four Sma- and Mad-related (SMAD) genes of the TGFß pathway, as candidate rAOM/COME susceptibility genes in two predominantly Caucasian populations. Single-nucleotide polymorphisms (SNPs) within FBXO11 (family-based association testing Z-Score=2.61; P(best)=0.009) were associated with severe OM in family-based analysis of 434 families (561 affected individuals) from the Western Australian Family Study of OM. The FBXO11 association was replicated by directed analysis of Illumina 660W-Quad Beadchip data available for 253 cases and 866 controls (OR=1.55 (95% CI 1.28-1.89); P(best)=6.9 × 10(-6)) available within the Western Australian Pregnancy Cohort (Raine) Study. Combined primary and replication results show P(combined)=2.98 × 10(-6). Neither cohort showed an association with EVI1 variants. Family-based associations at SMAD2 (P=0.038) and SMAD4 (P=0.048) were not replicated. Together, these data provide strong evidence for FBXO11 as a susceptibility gene for severe OM.
Subject(s)
F-Box Proteins/genetics , Otitis Media/genetics , Protein-Arginine N-Methyltransferases/genetics , Signal Transduction/genetics , Transforming Growth Factor beta/metabolism , Alleles , Australia , Child , Child, Preschool , DNA-Binding Proteins/genetics , F-Box Proteins/metabolism , Genetic Predisposition to Disease/genetics , Haplotypes , Humans , Linkage Disequilibrium/genetics , MDS1 and EVI1 Complex Locus Protein , Otitis Media/metabolism , Polymorphism, Single Nucleotide/genetics , Protein-Arginine N-Methyltransferases/metabolism , Proto-Oncogenes/genetics , Transcription Factors/geneticsABSTRACT
This study describes the successful treatment of a seventh grade boy who had selective mutism in school since kindergarten. Treatment consisted of systematic desensitization, consultation with school personnel, and training in social speaking skills. The student made significant gains with respect to frequency of verbalizations to teachers and peers, number of individuals spoken to, anxiety related to speaking, school attendance, and involvement in school-based extracurricular activities. At one year follow-up, the student's rate of speech was indistinguishable from his classmates'. Special issues concerning the treatment of long-term selective mutism are discussed.
Subject(s)
Anxiety/therapy , Desensitization, Psychologic/methods , Imagery, Psychotherapy/methods , Mutism/therapy , Absenteeism , Adolescent , Anxiety/psychology , Behavior Therapy/methods , Educational Status , Humans , Male , Mutism/psychology , Social Adjustment , Treatment OutcomeABSTRACT
This study examined the role of religious and nonreligious cognitive-behavioral coping in a sample of 61 chronic pain patients from a midwestern pain clinic. Participants described their chronic pain and indicated their use of religious and nonreligious cognitive-behavioral coping strategies. Results supported a multidimensional conceptualization of religious coping that includes both positive and negative strategies. Positive religious coping strategies were associated significantly with positive affect and religious outcome after statistically controlling for demographic variables. In contrast, measures of negative religious coping strategies were not associated significantly with outcome variables. Several significant associations also were found between nonreligious cognitive-behavioral coping strategies and outcome variables. The results underscore the need for further research concerning the contributions of religious coping in adjustment to chronic pain. Practitioners of applied psychophysiology should assess their chronic pain patients' religious appraisals and religious coping as another important stress management strategy.
