Mean-field approximation for networks with synchrony-driven adaptive coupling.

Synaptic plasticity plays a fundamental role in neuronal dynamics, governing how connections between neurons evolve in response to experience. In this study, we extend a network model of θ-neuron oscillators to include a realistic form of adaptive plasticity. In place of the less tractable spike-timing-dependent plasticity, we employ recently validated phase-difference-dependent plasticity rules, which adjust coupling strengths based on the relative phases of θ-neuron oscillators.

The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project.

Background And Aims: Genetic testing presents a unique opportunity for diagnosis and management of genetic kidney diseases (GKD). Here, we describe the clinical utility and valuable impact of a specialized GKD clinic, which uses a variety of genomic sequencing strategies.

Methods: In this prospective cohort study, we undertook genetic testing in adults with suspected GKD according to prespecified criteria.

Expect the unexpected: chronic renal abscess secondary to renal actinomycosis.

Actinomycosis is an invasive infection, which can affect numerous anatomical sites, though rarely the kidney. The rate of nephrectomy is high despite antibiotic therapy. A 51 year old presented with a renal abscess 9 years following a similar renal abscess.

A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 () Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.

Background: Podocyte dysfunction is the main pathologic mechanism driving the development of FSGS and other morphologic types of steroid-resistant nephrotic syndrome (SRNS). Despite significant progress, the genetic causes of most cases of SRNS have yet to be identified.

Methods: Whole-genome sequencing was performed on 320 individuals from 201 families with familial and sporadic NS/FSGS with no pathogenic mutations in any known NS/FSGS genes.

Integration of genetic and histopathology data in interpretation of kidney disease.

For many years renal biopsy has been the gold standard for diagnosis in many forms of kidney disease. It provides rapid, accurate and clinically useful information in most individuals with kidney disease. However, in recent years, other diagnostic modalities have become available that may provide more detailed and specific diagnostic information in addition to, or instead of, renal biopsy.

An Exome Sequencing Study of 10 Families with IgA Nephropathy.

Background: Immunoglobulin A nephropathy (IgAN) is a heterogeneous disorder with a strong genetic component. The advent of whole exome sequencing (WES) has accelerated the discovery of genetic risk factors underlying familial disorders.

Objectives: We set out to test whether damaging variants in known kidney disease genes explain a proportion of IgAN cases recruited in Ireland.

Utility of Genomic Testing after Renal Biopsy.

Background: Renal biopsy is the mainstay of renal pathological diagnosis. Despite sophisticated diagnostic techniques, it is not always possible to make a precise pathological diagnosis. Our aim was to identify a genetic cause of disease in patients who had undergone renal biopsy and determine if genetic testing altered diagnosis or treatment.

Karyomegalic Interstitial Nephritis: Cancer Risk Following Transplantation.

A brother and sister presented individually in their forties with progressive renal failure, bronchiectasis and mild derangements of their liver function tests. Both developed end-stage renal disease before the age of 50. Both siblings were found to carry a pathogenic, recessive, compound heterozygote mutation in the gene FAN1, which causes karyomegalic interstitial nephritis.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the , and genes. Neither the national or global prevalence of these diseases has been determined. We aimed to establish a database of patients with ADTKD in Ireland and report the clinical and genetic characteristics of these families.

Antimicrobial resistance and molecular epidemiology using whole-genome sequencing of Neisseria gonorrhoeae in Ireland, 2014-2016: focus on extended-spectrum cephalosporins and azithromycin.

High-level resistance and treatment failures with ceftriaxone and azithromycin, the first-line agents for gonorrhoea treatment are reported and antimicrobial-resistant Neisseria gonorrhoeae is an urgent public health threat. Our aims were to determine antimicrobial resistance rates, resistance determinants and phylogeny of N. gonorrhoeae in Ireland, 2014-2016.

Fourteen Draft Genome Sequences for the First Reported Cases of Azithromycin-Resistant in Ireland.

Here, we report the draft genome assemblies of 14 azithromycin-resistant clinical isolates, representing the first such strains identified in Ireland. Among these isolates are the first reported highly resistant strains (MIC >256 mg/liter), which both belonged to the ST1580 sequence type.

Arrest in hospital: a study of in hospital cardiac arrest outcomes.

The effect of advances in cardiac arrest management over the last five decades on in-hospital cardiac arrest survival rates is not clear. Data on 212 arrests between January 2010 and May 2013 were retrospectively analyzed by means of an audit form based upon the Utstein template for in-hospital cardiac arrest, with a view to identifying significant associations between arrest characteristics and return of spontaneous circulation or survival to discharge. Significant associations were identified between return of spontaneous circulation and location (ward, 36 patients (38%) vs.

The inflammatory cellular constituents of foetal and infant leptomeninges: a survey of hospital-based autopsies without trauma.

Objectives: Notwithstanding the lack of definitive evidence from studies conducted to date, inflammatory infiltrates and iron deposition in the leptomeninges are routinely used as forensic markers of traumatic brain injury. We investigated the presence of these forensic markers of trauma in neonates and infants, with the objective of determining their suitability for use in forensic cases.

Methods: Leptomeninges derived from non-traumatic deaths were studied.

Bordetella pertussis expresses a functional type III secretion system that subverts protective innate and adaptive immune responses.

Certain bacteria use a type III secretion system (TTSS) to deliver effector proteins that interfere with cell function into host cells. While transcription of genes encoding TTSS components has been demonstrated, studies to date have failed to identify TTSS effector proteins in Bordetella pertussis. Here we present the first evidence of a functionally active TTSS in B.