Introduction: The 2019-2020 "Black Summer" bushfires in Australia focused the attention of the nation on the critical role that volunteer firefighters play in the response to such a disaster, spurring a national conversation about how to best support those on the frontline. The objective of this research was to explore the impact of the Black Summer bushfires on volunteer firefighter well-being and to investigate how to deliver effective well-being support.
Methods: An explorative qualitative design underpinned by a phenomenological approach was applied.
Background: Vesicoureteral reflux (VUR) is a common, familial genitourinary disorder, and a major cause of pediatric urinary tract infection (UTI) and kidney failure. The genetic basis of VUR is not well understood.
Methods: A diagnostic analysis sought rare, pathogenic copy number variant (CNV) disorders among 1737 patients with VUR.
Objective: To investigate the efficacy of a workplace mental health awareness training program on help-seeking and mental health outcomes.
Methods: A cluster randomized controlled trial was conducted comparing those who received standard training (N = 210) or standard training with a mental health awareness module (N = 208). Both groups were followed up for 3 years with the primary outcome being likelihood to seek help.
ROBO2 gene disruption causes vesicoureteric reflux (VUR) amongst other congenital anomalies. Several VUR patient cohorts have been screened for variants in the ubiquitously expressed transcript, ROBO2b, but, apart from low levels in a few adult tissues, ROBO2a expression is confined to the embryo, and might be more relevant to VUR, a developmental disorder. ROBO2a has an alternative promoter and two alternative exons which replace the first exon of ROBO2b.
View Article and Find Full Text PDFIn the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of the article.
View Article and Find Full Text PDFCongenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD).
View Article and Find Full Text PDFBackground: Small intestinal bacterial overgrowth (SIBO) is a condition characterised by symptoms similar to pancreatic exocrine insufficiency (PEI) in chronic pancreatitis patients. SIBO is thought to complicate chronic pancreatitis in up to 92% of cases; however, studies are heterogeneous and protocols non-standardised. SIBO may be determined by measuring lung air-expiration of either hydrogen or methane which are by-products of small bowel bacterial fermentation of intraluminal substrates such as carbohydrates.
View Article and Find Full Text PDFA correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.
View Article and Find Full Text PDFVesicoureteric reflux (VUR) is the commonest urological anomaly in children. Despite treatment improvements, associated renal lesions - congenital dysplasia, acquired scarring or both - are a common cause of childhood hypertension and renal failure. Primary VUR is familial, with transmission rate and sibling risk both approaching 50%, and appears highly genetically heterogeneous.
View Article and Find Full Text PDFBackground: Mental illness is one of the most rapidly increasing causes of long-term sickness absence, despite improved rates of detection and development of more effective interventions. However, mental health training for managers might help improve occupational outcomes for people with mental health problems. We aimed to investigate the effect of mental health training on managers' knowledge, attitudes, confidence, and behaviour towards employees with mental health problems, and its effect on employee sickness absence.
View Article and Find Full Text PDFPosttraumatic stress disorder (PTSD) in emergency service personnel and other trauma-exposed populations is known to be associated with a variety of physical health problems. However, little attention has been paid to the health of ageing emergency service personnel, who may be forced into early medical retirement because of a combination of these issues. Currently employed (N = 274) Australian firefighters completed a cross-sectional survey using validated, self-report measures of PTSD and somatic symptoms.
View Article and Find Full Text PDFObjective: Emergency workers, such as fire-fighters, are routinely exposed to potentially traumatic events. While a number of studies have examined the occurrence of post-traumatic stress disorder, the role of multiple traumas on other mental health sequelae, such as depression and alcohol misuse, among emergency workers remains unclear. This study aimed to assess the prevalence of post-traumatic stress disorder, depression and alcohol misuse in a sample of current and retired fire-fighters and examine their relationship with cumulative trauma exposure.
View Article and Find Full Text PDFUrofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs.
View Article and Find Full Text PDFROBO2, the receptor of SLIT2, is one of many genes/proteins that regulate the outgrowth of the ureteric bud, which is the first step in the development of the metanephric urinary system. Non-synonymous variants in ROBO2 have been found in a small proportion of patients with primary vesicoureteric reflux (VUR) in various countries. Here we sequenced 1 kb of promoter and all exons of ROBO2b with intronic margins in 227 index cases with primary VUR in an Irish population and found 55 variants, of which 20 were novel.
View Article and Find Full Text PDFIntroduction: Small bowel capsule endoscopy (SBCE) is a useful diagnostic modality in small bowel disorders. Iron deficiency anaemia (IDA) is one of the most common indications for SBCE. However, there are limited data on the diagnostic yield for IDA alone, and little is known about the clinical impact and long-term outcome of patients following SBCE.
View Article and Find Full Text PDFIn the coming years, genetic test results will be increasingly used as indicators that influence medical decision making. Novel instrumentation that is able to detect relevant mutations in a point-of-care setting is being developed to facilitate this increase, frequently as a spin-off from recent research in the area of biothreat monitoring. This market review will describe the current generation of instrumentation that is most suitable for use in a point-of-care setting; it will also try to identify some of the technologies that will make-up the next generation of instrumentation currently being prepared for the market.
View Article and Find Full Text PDFBackground: Optimal management approach is not well defined for subjects who fail initial first- and second-line Helicobacter pylori eradication attempts and are dealt on a case-by-case basis by the specialists.
Aim: To evaluate the efficacy and safety of standard and 'rescue' eradication therapies at primary and secondary care levels.
Methods: H.