Prune belly syndrome: a South African perspective

Background: Prune belly syndrome (PBS) is a rare congenital disorder with a triad of signs: absent abdominal wall musculature, urinary tract malformations, and cryptorchidism. The aims of this study were to describe the epidemiology, renal function, management and outcome of patients with PBS at the Chris Hani Baragwanath Academic Hospital, Johannesburg, South Africa.Methods: A retrospective record review was conducted of patients with PBS referred to the paediatric nephrology unit from 1984 to 2014.Results: A total of 44 patient records were analysed. Most of the patients presented as neonates (n = 35, 80%). The accompanying congenital malformations included urological problems (21, 48%), orthopaedic abnormalities (5, 11%), congenital heart disease (3, 7%) and gastrointestinal abnormalities (2, 4%). The medical management included the use of prophylactic antibiotics and intermittent bladder catheterisation. Surgical management included abdominoplasty with orchidopexy and circumcision. At the last clinic visit, severe reductions in renal function were noted in 11 (58%) of the patients under the age of 2 years, whereas normal renal function was present in 14 (56%) of the patients over 2 years of age. The default rate was 57%; 6 (14%) patients were transferred to an adult clinic and 2 (4%) patients died.Conclusions: The patient profiles and the management recorded are comparable with other reported series. There are differences in the frequencies of congenital malformations and the rates of surgical intervention. The renal outcome for children older than two years was favourable compared to younger children. Progression to end-stage renal disease was observed infrequently, but this may be underestimated in view of the high default rate

A Randomized Controlled Trial of Online Acceptance and Commitment Therapy to Improve Diet and Physical Activity Among Adults Who Are Overweight/Obese

Background: Acceptance and commitment therapy (ACT) has shown benefit for improving diet, physical activity, and weight among adults who are overweight and obese. However, research to date in this area has primarily evaluated ACT delivered through in-person interventions, which has more limited access relative to online formats. Purpose: The present study evaluated an online guided self-help program that integrated ACT with nutrition education to improve healthy eating and physical activity. Methods: A sample of 79 adults who were overweight/obese were randomized to receive the 8-week ACT on Health program plus weekly phone coaching or to a waitlist. Results: Participants completed 5.5 ACT sessions on average (out of 8) and reported moderately high program satisfaction. Participants in the ACT condition improved significantly more than the waitlist at posttreatment on the primary outcome of healthy eating index (HEI; based on 24-hour recall assessments) and almost all secondary outcomes assessing self-reported eating behaviors, weight, mental health, weight self-stigma, and psychological inflexibility. However, no intervention effects were found for self-reported physical activity. At 8-week follow-up, improvements were maintained for most outcomes in the ACT condition, but not for the HEI. Improvements in psychological inflexibility mediated treatment effects on some outcomes, but not HEI or weight. Conclusions: Overall, delivering ACT through online guided self-help combined with nutrition education appears promising for improving healthy eating, weight, and self-stigma, but results for physical activity and long-term behavior change are unclear, possibly due to limitations in the ACT on Health program

A Qualitative Study of Workplace Factors Influencing Expertise in the Delivery of Children’s Education and Mental Health Services

Background: Interest in professional expertise is growing. Interactional and developmental perspectives are being adopted to understand the nature of expertise and the environmental factors that influence its development. This article provides qualitative information about the workplace factors and experiences considered important by individuals providing education or mental health services to children, with one group working within an interprofessional team approach (service providers) and the other working in a discipline-specific manner (teachers).Methods and Findings: Two focus groups were held: one involving 5 elementary or secondary school teachers and principals, and one involving 9 therapists who provide specialized children’s mental health services. Information arising in these group sessions was used to develop themes reflecting key elements discussed; the themes were then contrasted to infer differences between the two groups. The findings point to the importance of establishing a collaborative, learning-oriented workplace culture, including opportunities for varied work experiences, peer interaction and dialogue, and feedback.Conclusions: Implications include adopting relationship-oriented and collaborative service delivery models and ensuring that workplace settings encourage natural learning opportunities involving interaction, dialogue, and feedback, as well as meaningful professional development experiences of value to participants

Direct observation of the Higgs amplitude mode in a two-dimensional quantum antiferromagnet near the quantum critical point

Spontaneous symmetry-breaking quantum phase transitions play an essential role in condensed matter physics. The collective excitations in the broken-symmetry phase near the quantum critical point can be characterized by fluctuations of phase and amplitude of the order parameter. The phase oscillations correspond to the massless Nambu$-$Goldstone modes whereas the massive amplitude mode, analogous to the Higgs boson in particle physics, is prone to decay into a pair of low-energy Nambu$-$Goldstone modes in low dimensions. Especially, observation of a Higgs amplitude mode in two dimensions is an outstanding experimental challenge. Here, using the inelastic neutron scattering and applying the bond-operator theory, we directly and unambiguously identify the Higgs amplitude mode in a two-dimensional S=1/2 quantum antiferromagnet C$_9$H$_{18}$N$_2$CuBr$_4$ near a quantum critical point in two dimensions. Owing to an anisotropic energy gap, it kinematically prevents such decay and the Higgs amplitude mode acquires an infinite lifetime.Comment: 12 pages, 4 figures in the main text+3 figures in Supplementary Informatio

Pathway Analysis Approaches for Rare and Common Variants: Insights From Genetic Analysis Workshop 18

Pathway analysis, broadly defined as a group of methods incorporating a priori biological information from public databases, has emerged as a promising approach for analyzing high-dimensional genomic data. As part of Genetic Analysis Workshop 18, seven research groups applied pathway analysis techniques to whole-genome sequence data from the San Antonio Family Study. Overall, the groups found that the potential of pathway analysis to improve detection of causal variants by lowering the multiple-testing burden and incorporating biologic insight remains largely unrealized. Specifically, there is a lack of best practices at each stage of the pathway approach: annotation, analysis, interpretation, and follow-up. Annotation of genetic variants is inconsistent across databases, incomplete, and biased toward known genes. At the analysis stage insufficient statistical power remains a major challenge. Analyses combining rare and common variants may have an inflated type I error rate and may not improve detection of causal genes. Inclusion of known causal genes may not improve statistical power, although the fraction of explained phenotypic variance may be a more appropriate metric. Interpretation of findings is further complicated by evidence in support of interactions between pathways and by the lack of consensus on how to best incorporate functional information. Finally, all presented approaches warranted follow-up studies, both to reduce the likelihood of false-positive findings and to identify specific causal variants within a given pathway. Despite the initial promise of pathway analysis for modeling biological complexity of disease phenotypes, many methodological challenges currently remain to be addressed

Improving Completeness and Transparency of Reporting in Clinical Trials Using the Template for Intervention Description and Replication (TIDieR) Checklist Will Benefit the Physiotherapy Profession

Incomplete reporting of interventions in physiotherapy studies is an important problem and The Journal of Manual and Manipulative Therapy endorses the use of the TIDieR checklist as a potential solution

Retention of structure, antigenicity, and biological function of pneumococcal surface protein A (PspA) released from polyanhydride nanoparticles

Pneumococcal surface protein A (PspA) is a choline-binding protein which is a virulence factor found on the surface of all Streptococcus pneumoniae strains. Vaccination with PspA has been shown to be protective against a lethal challenge with S. pneumoniae, making it a promising immunogen for use in vaccines. Herein, the design of a PspA-based subunit vaccine using polyanhydride nanoparticles as a delivery platform is described. Nanoparticles based on sebacic acid (SA), 1,6-bis-(p-carboxyphenoxy)hexane (CPH) and 1,8-bis-(p-carboxyphenoxy)-3,6- dioxaoctane (CPTEG), specifically 50:50 CPTEG:CPH and 20:80 CPH:SA, were used to encapsulate and release PspA. The protein released from the nanoparticle formulations retained its primary and secondary structure as well as its antigenicity. The released PspA was also biologically functional based on its ability to bind to apolactoferrin and prevent its bactericidal activity towards Escherichia coli. When the PspA nanoparticle formulations were administered subcutaneously to mice, the animals elicited a high titer and high avidity anti-PspA antibody response. Together, these studies provide a framework for the rational design of a vaccine against S. pneumoniae based on polyanhydride nanoparticles

Disseminated \u3ci\u3eLeishmania infantum\u3c/i\u3e infection in two sibling foxhounds due to possible vertical transmission

Two sibling foxhounds born to a Leishmania seropositive bitch were presented after testing seropositive for Leishmania. Leishmania infantum infection was detected via histopathology, culture, and quantitative polymerase chain reaction (q-PCR). This is the first report of natural infection with Leishmania infantum with the possibility for vertical transmission in North America. Infection disséminée à Leishmania infantum chez deux chiots Fox hound d’une même portée reliée possiblement à une transmission verticale. Deux chiots Fox hound d’une même portée nés d’une mère séropositive à Leishmania ont été présentés après un contrôle sérologique positif. Une infection à Leishmania infantum a été détectée par histopathologie, culture et amplification en chaîne par polymérase quantitative (ACP-q). Il s’agit du premier rapport d’infection naturelle par Leishmania infantum possiblement relié à une transmission verticale en Amérique du Nord

Kinesins relocalize the chromosomal passenger complex to the midzone for spindle disassembly.

Mitotic spindle disassembly after chromosome separation is as important as spindle assembly, yet the molecular mechanisms for spindle disassembly are unclear. In this study, we investigated how the chromosomal passenger complex (CPC), which contains the Aurora B kinase Ipl1, swiftly concentrates at the spindle midzone in late anaphase, and we researched the role of this dramatic relocalization during spindle disassembly. We showed that the kinesins Kip1 and Kip3 are essential for CPC relocalization. In cells lacking Kip1 and Kip3, spindle disassembly is severely delayed until after contraction of the cytokinetic ring. Purified Kip1 and Kip3 interact directly with the CPC and recruit it to microtubules in vitro, and single-molecule experiments showed that the CPC diffuses dynamically on microtubules but that diffusion stops when the CPC encounters a Kip1 molecule. We propose that Kip1 and Kip3 trap the CPC at the spindle midzone in late anaphase to ensure timely spindle disassembly