Exploring the highly reduced spliceosome of Pseudoloma neurophilia.

Spliceosomal introns evolved early in eukaryogenesis, originating from self-splicing group II introns that invaded the proto-eukaryotic genome. Elements of these ribozymes, now called snRNAs (U1, U2, U4, U5, U6), were co-opted to excise these invasive elements. Prior to eukaryotic diversification, the spliceosome is predicted to have accumulated hundreds of proteins.

Microsporidia.

In this Quick guide, Thomas Whelan and Naomi Fast introduce the microsporidia: obligate intracellular parasites with the most extremely reduced genomes known in eukaryotes.

Contrasting outcomes of genome reduction in mikrocytids and microsporidians.

Background: Intracellular symbionts often undergo genome reduction, losing both coding and non-coding DNA in a process that ultimately produces small, gene-dense genomes with few genes. Among eukaryotes, an extreme example is found in microsporidians, which are anaerobic, obligate intracellular parasites related to fungi that have the smallest nuclear genomes known (except for the relic nucleomorphs of some secondary plastids). Mikrocytids are superficially similar to microsporidians: they are also small, reduced, obligate parasites; however, as they belong to a very different branch of the tree of eukaryotes, the rhizarians, such similarities must have evolved in parallel.

Spliceosome assembly and regulation: insights from analysis of highly reduced spliceosomes.

Premessenger RNA splicing is catalyzed by the spliceosome, a multimegadalton RNA-protein complex that assembles in a highly regulated process on each intronic substrate. Most studies of splicing and spliceosomes have been carried out in human or model systems. There exists, however, a large diversity of spliceosomes, particularly in organisms with reduced genomes, that suggests a means of analyzing the essential elements of spliceosome assembly and regulation.

A thematic analysis of influences on parents' autism intervention decisions.

Background: Factors impacting parents' selection of interventions for their child on the autism spectrum need to be understood in order to better support decision-making. The aim of the current study was to explore parent-reported influences on decisions.

Method: A sample of 14 Australian parents (13 mothers; 1 father) of a child (4-11 years) diagnosed on the autism spectrum were interviewed about their decisions regarding the use of interventions.

Microsporidian Introns Retained against a Background of Genome Reduction: Characterization of an Unusual Set of Introns.

Spliceosomal introns are ubiquitous features of eukaryotic genomes, but the mechanisms responsible for their loss and gain are difficult to identify. Microsporidia are obligate intracellular parasites that have significantly reduced genomes and, as a result, have lost many if not all of their introns. In the microsporidian Encephalitozoon cuniculi, a relatively long intron was identified and was spliced at higher levels than the remaining introns.

The use of penile prostheses in the management of priapism.

Priapism is a relatively uncommon condition that can result in erectile dysfunction (ED) and corporal fibrosis. Cases of prolonged priapism are particularly prone to ED, which arises when priapism is treatment refractory or had a delayed presentation. Due to the emergent nature of priapism, it behooves urologists to be familiar with all potential treatment modalities to minimize adverse outcomes.

Midwives' perceptions and experiences of engaging fathers in perinatal services.

Background: The active engagement of fathers in maternity care is associated with long-term benefits for the father, their partner, and their child. Midwives are ideally placed to engage fathers, but few studies have explored midwives' experiences of working with men. Therefore, the aim of this study was to describe midwives' perceptions and experiences of engaging fathers in perinatal services.

Fathers' postnatal distress, parenting self-efficacy, later parenting behavior, and children's emotional-behavioral functioning: A longitudinal study.

Fathers' postnatal distress has been associated with subsequent emotional and behavioral problems for children; however, the mechanisms by which this occurs have received less attention. One potential pathway could be via the negative effects that father mental health problems and parenting self-efficacy (PSE) in the postnatal period have on later parenting behaviors. Using a nationally representative cohort of Australian father-child dyads (N = 3,741), the long-term relationships between fathers' psychological distress and PSE in the postnatal period, parenting behavior when children were aged 4-5 years, and emotional-behavioral outcomes for children aged 8-9 years were explored.

A SYSTEMATIC REVIEW OF INTERVENTIONS TARGETING PATERNAL MENTAL HEALTH IN THE PERINATAL PERIOD.

Interventions targeting parents' mental health in the perinatal period are critical due to potential consequences of perinatal mental illness for the parent, the infant, and their family. To date, most programs have targeted mothers. This systematic review explores the current status and evidence for intervention programs aiming to prevent or treat paternal mental illness in the perinatal period.

Enhancing reciprocal partner support to prevent perinatal depression and anxiety: a Delphi consensus study.

Background: Systematic reviews have established that partner support protects against perinatal mood problems. It is therefore a key target for interventions designed to prevent maternal and paternal depression and anxiety. Nonetheless, the extant literature is yet to be translated into specific actions that parents can implement.

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.

The genetic basis underlying the majority of hereditary pancreatic adenocarcinoma (PC) is unknown. Since DNA repair genes are widely implicated in gastrointestinal malignancies, including PC, we hypothesized that there are novel DNA repair PC susceptibility genes. As germline DNA repair gene mutations may lead to PC subtypes with selective therapeutic responses, we also hypothesized that there is an overall survival (OS) difference in mutation carriers versus non-carriers.

Modifiable partner factors associated with perinatal depression and anxiety: a systematic review and meta-analysis.

Background: Perinatal distress is a significant public health problem that adversely impacts the individual and their family. The primary objective of this systematic review and meta-analysis was to identify factors that partners can modify to protect each other from developing perinatal depression and anxiety.

Method: In accordance with the PRISMA statement, we reviewed the risk and protective factors associated with perinatal depression and anxiety symptoms that partners can potentially modify without professional assistance (PROSPERO reference CRD42014007524).

Five-year follow-up of active surveillance for prostate cancer: A Canadian community-based urological experience.

Introducton: We assessed oncological outcomes of active surveillance (AS) using a community database and identified factors associated with disease reclassification on surveillance biopsy.

Methods: A retrospective review was performed on 200 men on AS. Prostate-specific antigen (PSA) was measured every 3 to 6 months.

Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.

The identification of germline variants that predispose to cancer is important to further our understanding of tumorigenesis, guide patient management, prevent disease in unaffected relatives, and inform best practice for health care. We describe a kindred with multiple gastrointestinal malignancies where a novel MSH6 germline susceptibility variant was identified by exome sequencing after eluding serial routine testing in multiple affected members. This case fosters discussion of our current understanding of DNA mismatch repair deficiency, the management of Lynch Syndrome, and the emerging role of next generation sequencing in laboratory medicine to identify rare pathogenic germline variants in a comprehensive, unbiased fashion.

A magnetic mass within the bladder.

A search of the literature finds that there have been many case reports documenting a wide array of objects found within the bladder, ranging from magnets and paper clips to telephone and aluminum wire. The goal of treatment is to remove the object quickly, using the least invasive method possible. Therefore, the ideal treatment is removal through endoscopic means; however, in some cases, the size, mobility and shape of the foreign body can prevent its removal endoscopically and more invasive means must be employed.

Incarcerated inguinal hernia in infancy associated with testicular infarction: Case report and review of the literature.

One of the most common urgent urologic problems seen in young patients in the emergency department is the acute scrotum. Testicular infarction from an incarcerated inguinal hernia is an unusual presentation and often not considered in the initial evaluation. We present an interesting case of a 28-day-old boy who presented with an acute scrotum and was found to have a testicular infarction and an incarcerated inguinal hernia.

When big brother is watching: goal orientation shapes reactions to electronic monitoring during online training.

Web-based training is frequently used by organizations as a convenient and low-cost way to teach employees new knowledge and skills. As web-based training is typically unproctored, employees may be held accountable to the organization by computer software that monitors their behaviors. The current study examines how the introduction of electronic performance monitoring may provoke negative emotional reactions and decrease learning among certain types of e-learners.

Compliance with semen analysis.

Purpose: We calculated the compliance rate and determined which population of men would be more or less likely to be compliant with semen analysis followup based on demographic information and complication rates.

Materials And Methods: We retrospectively reviewed the records of 946 consecutive patients who underwent vasectomy at an ambulatory clinic, as performed by 1 urologist. Standard followup consisted of a telephone call or prebooked appointment 2 months after vasectomy and 2 semen analyses 4 months after vasectomy.

Renal tumors and the risk of malignancy based on size.

Purpose: To determine the incidence of malignancy in resected renal tumors in a subpopulation of Canadian patients and the significance of tumor size, patient's demographics, and whether the tumor was an incidental finding.

Methods: Medical records of 168 consecutive nephrectomies performed between March 2003 and June 2008 at our institution were reviewed retrospectively.

Results: Average age of the patients was 61 years old (SD 11, range 28-89) and male to female ratio was 1.

Blood B-type natriuretic peptide and dialysis: present assessment and future analyses.

Brain natriuretic peptide (BNP) is elevated in hemodialysis (HD) patients and predicts increased mortality. Intra- and interdialytic changes in BNP have not been fully described. End-stage renal disease (ESRD) patients were prospectively recruited at three dialysis centers.

The relationship between grandparent satisfaction, meaning, and generativity.

This study investigated predictors of grandparent satisfaction. Participants were 149 non-custodial grandparents (100 grandmothers, 49 grandfathers) aged up to 80 years. They completed grandparent satisfaction, meaning, and generativity scales, and indicated levels of weekly childcare contact with grandchildren.