Utility of FDG PET-CT in CT Stage IA non-small cell lung cancer: The New Zealand Te Whatu Ora Northern region experience.

Introduction: Our objective was to investigate the utility of fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET-CT) in assessing CT Stage 1A non-small cell lung cancer (NSCLC) in patients under consideration for curative treatment. Performing FDG PET-CT in these patients may lead to unnecessary delays in treatment if it can be shown to provide no added value.

Methods: We retrospectively reviewed 735 lesions in 653 patients from the New Zealand Te Whatu Ora Northern region lung cancer database with suspected or pathologically proven Stage 1A NSCLC on CT scan who also underwent FDG PET-CT imaging.

Predicting outcomes following cognitive behaviour therapy in child anxiety disorders: the influence of genetic, demographic and clinical information.

Background: Within a therapeutic gene by environment (G × E) framework, we recently demonstrated that variation in the Serotonin Transporter Promoter Polymorphism; 5HTTLPR and marker rs6330 in Nerve Growth Factor gene; NGF is associated with poorer outcomes following cognitive behaviour therapy (CBT) for child anxiety disorders. The aim of this study was to explore one potential means of extending the translational reach of G × E data in a way that may be clinically informative. We describe a 'risk-index' approach combining genetic, demographic and clinical data and test its ability to predict diagnostic outcome following CBT in anxious children.

Fluoroquinolone and macrolide resistance-associated mutations in Mycoplasma genitalium.

Mycoplasma genitalium is a significant sexually transmitted pathogen, causing up to 25% of cases of nongonococcal urethritis in men, and it is strongly associated with cervicitis and pelvic inflammatory disease in women. Currently, the usual first-line treatment is the macrolide antibiotic azithromycin, but an increasing incidence of treatment failure over the last 5 years suggests the emergence of antibiotic resistance. The mutations responsible for macrolide resistance have been found in the 23S rRNA gene in numerous M.

Identification of sialyltransferase 8B as a generalized susceptibility gene for psychotic and mood disorders on chromosome 15q25-26.

We previously identified a significant bipolar spectrum disorder linkage peak on 15q25-26 using 35 extended families with a broad clinical phenotype, including bipolar disorder (types I and II), recurrent unipolar depression and schizoaffective disorder. However, the specific gene(s) contributing to this signal had not been identified. By a fine mapping association study in an Australian case-control cohort (n = 385), we find that the sialyltransferase 8B (ST8SIA2) gene, coding for an enzyme that glycosylates proteins involved in neuronal plasticity which has previously shown association to both schizophrenia and autism, is associated with increased risk to bipolar spectrum disorder.

Common patterns in 558 diagnostic radiology errors.

Introduction: As a Quality Improvement initiative our department has held regular discrepancy meetings since 2003. We performed a retrospective analysis of the cases presented and identified the most common pattern of error.

Methods: A total of 558 cases were referred for discussion over 92 months, and errors were classified as perceptual or interpretative.

Predictive and diagnostic genetic testing in psychiatry.

The recent advent of commercially available genetic tests for the diagnosis of several mental illnesses has led to intense controversy amongst the psychiatric research community. In this article the authors review these developments, and contrast these with the growing evidence from genomewide association studies that highly heritable psychiatric conditions such as schizophrenia are due to the contributions and interaction of multiple allelic variants, each of small effect size. There is also evidence for the contribution of some highly penetrant rare de novo copy number variants, though the lack of disease specificity for these is of concern.

Predictive and diagnostic genetic testing in psychiatry.

The recent advent of commercially available genetic tests for the diagnosis of several mental illnesses has led to intense controversy amongst the psychiatric research community. In this article the authors review these developments, and contrast these with the growing evidence from genome-wide association studies that highly heritable psychiatric conditions such as schizophrenia are due to the contributions and interaction of multiple allelic variants, each of small effect size. There is also evidence for the contribution of some highly penetrant rare de novo copy number variants, though the lack of disease specificity for these is of concern.

Two-dimensional genome scan identifies multiple genetic interactions in bipolar affective disorder.

Background: Bipolar disorder is a highly heritable psychiatric condition, the etiology of which remains largely unknown despite extensive efforts to identify susceptibility genes. Interactions between genes of small individual effect could partially explain the difficulties of traditional one-dimensional approaches to identify genetic risk factors.

Methods: A nonparametric linkage (NPL) analysis of 65 Australian extended pedigrees containing 643 genotyped individuals (of whom 40% were diagnosed with affective disorder) was conducted.

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

Objectives: This study describes a genome-wide linkage analysis of a large family with clinically heterogeneous hypertrophic cardiomyopathy (HCM).

Background: Familial HCM is a disorder characterized by genetic heterogeneity. In as many as 50% of HCM cases, the genetic cause remains unknown, suggesting that other genes may be involved.

Association between the serotonin 2A receptor gene and bipolar affective disorder in an Australian cohort.

Objective: The serotonin 2A receptor gene (HTR2A) is involved in serotonergic neurotransmission, and has been targeted as a functional candidate for mood disorders because of the extensive support for the involvement of serotonin in mood regulation. We previously reported linkage evidence for a bipolar affective disorder susceptibility locus on chromosome 13q, which harbours HTR2A, thus making the gene both a positional and functional candidate. We assessed HTR2A for association in an Australian bipolar disorder case-control cohort.

Pleural effusion in patients with pulmonary embolism.

Background And Objective: It has been suggested that pulmonary embolism (PE) is an under-recognized cause of pleural effusion. This study aimed to (i) establish the incidence and clinical relevance of pleural effusion in patients with pulmonary emboli; and (ii) determine if there is a relationship between development of pleural effusions and the location of emboli and number of pulmonary arteries involved.

Methods: A retrospective analysis of all CT pulmonary angiograms (CTPA) performed over 12 months on adult patients with clinically suspected PE in a hospital which used CTPA as first-line imaging investigation for PE.

Genome screen of 15 Australian bipolar affective disorder pedigrees supports previously identified loci for bipolar susceptibility genes.

Objective: Despite many studies into the genetics of bipolar disorder (BP), the molecular causes underlying susceptibility to BP remain unclear. The aim of this study was to identify chromosomal regions linked to BP in a new Australian extended pedigree cohort.

Methods: We have conducted a parametric genome-wide linkage scan on 15 previously unreported Australian extended families with BP and related affective disorders, comprising 63 affected and 158 nonaffected individuals.

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations in up to 95% of classical Rett syndrome (RTT) patients. This high rate of mutation detection can partly be attributed to specialised techniques that have enabled the detection of large deletions in a substantial fraction of otherwise mutation-negative patients. These cases would normally be missed by the routine PCR-based screening strategies.

Arts syndrome is caused by loss-of-function mutations in PRPS1.

Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24.

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. This is the first report of the involvement of a nuclear body protein in a human primary immunodeficiency and of high-penetrance genetic mutations in hepatic veno-occlusive disease.

Flow cytometry in the study of mitochondrial respiratory chain disorders.

We have developed a flow cytometric assay to measure the oxidative capacity of cultured lymphoblasts as a possible screening test for patients suspected of having a defect of the mitochondrial respiratory chain. Cells were incubated overnight in serum free media, followed by incubation with dihydroethidium with and without rotenone, and then analysed using flow cytometry to measure fluorescence. Inhibition with rotenone gave an increase in fluorescence compared to uninhibited cells.

Identification, characterization, and association analysis of novel genes from the bipolar disorder susceptibility locus on chromosome 4q35.

The cause of bipolar disorder remains unknown, with little knowledge of the underlying biological, anatomical, biochemical, or genetic defect. The disorder is genetically complex, with an increasing number of loci being implicated through genetic linkage studies. We previously identified a bipolar disorder susceptibility locus on chromosome 4q35 and refined the interval harboring this susceptibility gene to approximately 5 Mb, a size that is amenable to positional cloning.

Randomized controlled trial of Gastrografin in adhesive small bowel obstruction.

Background: Several previous studies have shown that Gastrografin can be utilized to triage patients with adhesive small bowel obstruction (ASBO) to an operative or a non-operative course. Previous studies assessing the therapeutic effect of Gastrografin have been confounded by post-administration radiology alerting the physician to the treatment group of the patient. Therefore the aim of the present paper was to test the hypothesis that Gastrografin hastens the non-operative resolution of (ASBO).

Association analysis of transcripts from the bipolar susceptibility locus on chromosome 4q35, exclusion of a pathogenic role for eight positional candidate genes.

Bipolar affective disorder is a major psychiatric illness with a population prevalence of up to 1.6%. The disorder is genetically complex.

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

In this communication we describe the clinical and molecular genetic findings in a family with a variable ectrodactyly linked to SHFM3. This is only the second detailed report of the clinical features of the SHFM3 linked syndrome in a large pedigree. Within this family the expressivity of the condition ranges from the classical ectrodactyly deformity to partial absence of the thumb and agenesis of the distal tip of the index finger.

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.

Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an effort to identify regions with significant support for linkage in the combined data. The two primary analyses considered available linkage data for "very narrow" (i.

Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35.

A susceptibility locus for bipolar affective disorder has been mapped to chromosome 4q35 in a large multigenerational pedigree. We have expanded this analysis to include 55 pedigrees (674 individuals, 214 affecteds). The evidence for linkage to 4q35 was strengthened in this larger cohort, with a maximum two-point LOD score of 3.