Neuromuscular Electrostimulation Increases Microcirculatory Flux in Mixed Etiology Leg Ulcers.

Objective: To determine if intermittent neuromuscular electrostimulation (NMES) of the common peroneal nerve increases microvascular flow and pulsatility in and around the wound bed of patients with combined venous and arterial etiology.

Methods: Seven consenting participants presenting with mixed etiology leg ulcers participated in this study. Microvascular flow and pulsatility was measured in the wound bed and in the skin surrounding the wound using laser speckle contrast imaging.

A feasibility study of the CRISP intervention; a cardiovascular risk reduction intervention in patients with an abdominal aortic aneurysm.

Background: Abdominal aortic aneurysm (AAA) screening/surveillance is implemented widely. Those in AAA-surveillance are at high-risk of cardiovascular-events. We developed an intervention, called CRISP, using intervention-mapping, to reduce cardiovascular-risk in AAA-surveillance.

A comparison of the minimum data sets for primary shoulder arthroplasty between national shoulder arthroplasty registries. Is international harmonization feasible?

The aims of this study were to identify the common components of the Minimum Data Set (MDS) of current national shoulder arthroplasty registries that could be pooled for analysis; and to determine whether further harmonisation of data collection across these registries would be feasible. Copies of primary shoulder arthroplasty MDS forms, annual reports, and other publications from national shoulder arthroplasty registries were identified using internet search engines up to November 2016. Data relating to local or regional registries was excluded.

Assessment and Early Management of Pain in Hip Fractures: The Impact of Paracetamol.

Introduction: As the number of patients sustaining hip fractures increases, interventions aimed at improving patient comfort and reducing complication burden acquire increased importance. Frailty, cognitive impairment, and difficulty in assessing pain control characterize this population. In order to inform future care, a review of pain assessment and the use of preoperative intravenous paracetamol (IVP) is presented.

Compound heterozygous mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.

Mutations in the gene result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). This neurometabolic disease typically presents in early childhood with progressive neurodegeneration, including confusion, seizures, and dysphagia, advancing to coma and death. Treatment is possible via supplement of biotin and/or thiamine, with early treatment resulting in significant lifelong improvements.

Factors Influencing patient experience and satisfaction following surgical management of ankle fractures.

Background: Patient feedback is increasingly important to inform and develop effective healthcare within the United Kingdom. In order to optimise patient experience of ankle fracture care in our unit, we sought to identify elements of practice associated with poor patient experience and low levels of satisfaction.

Methods: Adult patients with closed ankle fractures requiring fixation over a ten month period were prospectively identified.

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.

Background: The use of Microarray (array CGH) analysis has become a widely accepted front-line test replacing G banded chromosome studies for patients with an unexplained phenotype. We detail our findings of over 5300 cases.

Results: Of 5369 pre and postnatal samples, copy number variants (CNVs) were detected in 28.

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.

Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in exon 10 of the SACS gene: c.

Microduplication of 3p26.3 implicated in cognitive development.

We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes.

The pediatric fracture of the scaphoid in patients aged 13 years and under: an epidemiological study.

Background: Fractures of the scaphoid are uncommon in the pediatric population. Despite their rarity, a significant number of children are referred to the fracture clinic for a suspected scaphoid fracture. The aim of this study was to report on the current incidence, pattern of injury, and the long-term outcomes following this injury in the pediatric population.

Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay.

We report here a 4-year-old boy with global developmental delay who was referred for karyotyping and fragile X studies. A small interstitial deletion on chromosome 7 at band 7q21 was detected in all cells examined. Subsequent molecular karyotype analysis gave the more detailed result of a 6.

Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective.

Global developmental delay (GDD) affects ~1-3% of children, many of whom will also have intellectual disability (ID). Fragile X is the major genetic cause of GDD with mental retardation (MR) in males, accounting for ~20% of all X-linked MR. As Fragile X has serious genetic implications, the overwhelming majority of developmental delay (DD) cases referred to our laboratory are concerned with the exclusion of a diagnosis of Fragile X, along with simultaneous karyotype analysis to confirm chromosome aberrations.

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

The c.1529C >T change in the SPG7 gene, encoding the mutant p.Ala510Val paraplegin protein, was first described as a polymorphism in 1998.

A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities.

Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.

The contactin-associated protein-like 2 (CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb deletion within the CNTNAP2 gene that is maternally inherited in two male siblings, but with a variable clinical phenotype.

Arthroscopic Bankart repair and capsular shift for recurrent anterior shoulder instability: functional outcomes and identification of risk factors for recurrence.

Background: Arthroscopic Bankart repair and capsular shift is a well-established technique for the treatment of anterior shoulder instability. The purpose of this study was to evaluate the outcomes following arthroscopic Bankart repair and capsular shift and to identify risk factors that are predictive of recurrence of glenohumeral instability.

Methods: We performed a retrospective review of a prospectively collected database consisting of 302 patients who had undergone arthroscopic Bankart repair and capsular shift for the treatment of recurrent anterior glenohumeral instability.

Prospective study of the ARCHITECTHIV Ag/Ab Combo fourth generation assay to detect HIV infection in sexually transmitted infection clinics.

This prospective, cross-sectional study of HIV testing at two sexually transmitted infection clinics compares testing results from the ARCHITECT HIV Ag/Ab Combo fourth generation assay against the current standard of care in North Carolina (third generation enzyme immunoassay testing with western blot confirmation and reflex nucleic acid amplification testing of pooled seronegative samples). In this setting, the assay reported a sensitivity of 100%, a specificity of 99.9%, and a median turn-around time of 26.

Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.

Pseudotrisomy 13 syndrome is characterised by holoprosencephaly with or without polydactyly, but with a normal karyotype. The genetic cause of this syndrome remains unclear, but it is thought to be autosomal recessive. In order to identify possible candidate genes, we identified regions of homozygosity in the DNA of an affected foetus, which was the seventh pregnancy of a healthy non-consanguineous Cook Island Maori couple; this ethnic group derives from a small founder population.

Chromosome microarray analysis in a clinical environment: new perspective and new challenge.

The analysis of the human genome has largely been undertaken in a research environment, but recent developments in technology and associated workflow have allowed diagnostic laboratories to interrogate DNA at significantly improved levels of resolution. Principally, whole genome-based analysis of copy number changes using microarrays has led to this method replacing conventional karyotyping as a routine diagnostic workhorse. The resolution offered by microarrays is an improvement of at least an order of magnitude compared to karyotyping, but it comes at a cost in terms of the time spent in data interpretation.

Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal.

Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The case reported here is the rare form with a t(Xp;Yp).

A long-term study of Australian infectious bronchitis viruses indicates a major antigenic change in recently isolated strains.

The antigenic relationship among 36 IBV strains isolated between 1961 and 1994 from vaccinated and non-vaccinated chicken flocks was determined. Based on the reaction with nine monoclonal antibodies (MAbs) in ELISA and polyclonal chicken sera in western blotting, IBV strains clearly fell into two distinct antigenic groups. Nineteen IBV strains isolated between 1961 and 1994 from various locations were antigenically related, having common cross-reactive epitopes on the peplomer S, the nucleocapsid N and the membrane M proteins.

Distribution of serogroups of Neisseria meningitidis and antigenic characterization of serogroup Y meningococci in Canada, January 1, 1999 to June 30, 2001.

The relative frequency of serogroups of Neisseria meningitidis associated with meningococcal disease in Canada during the period January 1, 1999 to June 30, 2001 was examined. Of the 552 strains of N meningitidis collected from clinical specimens of normally sterile sites, 191 (34.6%), 276 (50.

Strongyloides stercoralis: Amphidial neuron pair ASJ triggers significant resumption of development by infective larvae under host-mimicking in vitro conditions.

Resumption of development by infective larvae (L3i) of parasitic nematodes upon entering a host is a critical first step in establishing a parasitic relationship with a definitive host. It is also considered equivalent to exit from the dauer stage by the free-living nematode Caenorhabditis elegans. Initiation of feeding, an early event in this process, is induced in vitro in L3i of Strongyloides stercoralis, a parasite of humans, other primates and dogs, by culturing the larvae in DMEM with 10% canine serum and 5mM glutathione at 37 degrees C with 5% CO(2).