A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study.

With the advent of next-generation sequencing (NGS), monogenic forms of common variable immunodeficiency (CVID) have been increasingly described. Our study aimed to identify disease-causing variants in a Western Australian CVID cohort using a novel targeted NGS panel. Targeted amplicon NGS was performed on 22 unrelated subjects who met the formal European Society for Immunodeficiencies-Pan-American Group for Immunodeficiency diagnostic criteria for CVID and had at least one of the following additional criteria: disease onset at age <18 years, autoimmunity, low memory B lymphocytes, family history, and/or history of lymphoproliferation.

The responsibility to care: lessons learned from emergency department workers' perspectives during the first wave of the COVID-19 pandemic in Canada.

Background: This study's objective was to examine emergency department (ED) workers' perspectives during the Canadian COVID-19 first wave.

Methods: This qualitative study included workers from nine Canadian EDs who participated in 3 monthly video focus groups between April and July 2020 to explore (1) personal/professional experiences, (2) patient care and ED work, (3) relationships with teams, institutions and governing bodies. Framework analysis informed data collection and analysis.

The Scottish Brain Health Service Model: Rationale and Scientific Basis for a National Care Pathway of Brain Health Services in Scotland.

In order to address the oft-cited societal, economic, and health and social care impacts of neurodegenerative diseases, such as Alzheimer's disease, we must move decisively from reactive to proactive clinical practice and to embed evidence-based brain health education throughout society. Most disease processes can be at least partially prevented, slowed, or reversed. We have long neglected to intervene in neurodegenerative disease processes, largely due to a misconception that their predominant symptom - cognitive decline - is a normal, age-related process, but also due to a lack of multi-disciplinary collaboration.

Thalamic activations in rat brain by fMRI during tactile (forepaw, whisker) and non-tactile (visual, olfactory) sensory stimulations.

The thalamus is a crucial subcortical hub that impacts cortical activity. Tracing experiments in animals and post-mortem humans suggest rich morphological specificity of the thalamus. Very few studies reported rodent thalamic activations by functional MRI (fMRI) as compared to cortical activations for different sensory stimuli.

Let's talk about sex characteristics-As a risk factor for invasive fungal diseases.

Biological sex, which comprises differences in host sex hormone homeostasis and immune responses, can have a substantial impact on the epidemiology of infectious diseases. Comprehensive data on sex distributions in invasive fungal diseases (IFDs) are lacking. In this review, we performed a literature search of in vitro/animal studies, clinical studies, systematic reviews and meta-analyses of invasive fungal infections.

Expanding the conversation: A Person-centred Communication Enhancement Model.

The intricacy and impact of human communication has long captured the attention of philosophers, scholars and practitioners. Within the realm of care and service provision, efforts to maximize outcomes through optimal person-provider communication have drawn research and clinical focus to this area for several decades. With the dawning of the person-centred care movement within healthcare, and in particular long-term care home and dementia care settings, improvement in care providers' use of person-centred communication strategies and enhancement of relationships between residents, their families and care providers are desired outcomes.

Aerobic glycolysis imaging of epileptic foci during the inter-ictal period.

Background: In drug-resistant epilepsy, surgical resection of the epileptic focus can end seizures. However, success is dependent on the ability to identify foci locations and, unfortunately, current methods like electrophysiology and positron emission tomography can give contradictory results. During seizures, glucose is metabolized at epileptic foci through aerobic glycolysis, which can be imaged through the oxygen-glucose index (OGI) biomarker.

Aneuploidy influences the gene expression profiles in Saccharomyces pastorianus group I and II strains during fermentation.

The lager yeasts, Saccharomyces pastorianus, are hybrids of Saccharomyces cerevisiae and Saccharomyces eubayanus and are divided into two broad groups, Group I and II. The two groups evolved from at least one common hybridisation event but have subsequently diverged with Group I strains losing many S. cerevisiae chromosomes while the Group II strains retain both sub-genomes.

Intravenous ketorolac versus morphine in children presenting with suspected appendicitis: a pilot single-centre non-inferiority randomised controlled trial.

Objectives: Despite a lack of evidence demonstrating superiority to non-steroidal anti-inflammatory drugs, like ketorolac, that are associated with lower risk of harms, opioids remain the most prescribed analgesic for acute abdominal pain. In this pilot trial, we will assess the feasibility of a definitive trial comparing ketorolac with morphine in children with suspected appendicitis. We hypothesise that our study will be feasible based on a 40% consent rate.

Comparison of Two Automated Targeted Metabolomics Programs to Manual Profiling by an Experienced Spectroscopist for H-NMR Spectra.

Automated programs that carry out targeted metabolite identification and quantification using proton nuclear magnetic resonance spectra can overcome time and cost barriers that limit metabolomics use. However, their performance needs to be comparable to that of an experienced spectroscopist. A previously analyzed pediatric sepsis data set of serum samples was used to compare results generated by the automated programs rDolphin and BATMAN with the results obtained by manual profiling for 58 identified metabolites.

Differential Selection on Caste-Associated Genes in a Subterranean Termite.

Analyzing the information-rich content of RNA can help uncover genetic events associated with social insect castes or other social polymorphisms. Here, we exploit a series of cDNA libraries previously derived from whole-body tissue of different castes as well as from three behaviourally distinct populations of the Eastern subterranean termite Reticulitermes flavipes. We found that the number (~0.

Localization and functional characterization of the alternative oxidase in Naegleria.

The alternative oxidase (AOX) is a protein involved in supporting enzymatic reactions of the Krebs cycle in instances when the canonical (cytochrome-mediated) respiratory chain has been inhibited, while allowing for the maintenance of cell growth and necessary metabolic processes for survival. Among eukaryotes, alternative oxidases have dispersed distribution and are found in plants, fungi, and protists, including Naegleria ssp. Naegleria species are free-living unicellular amoeboflagellates and include the pathogenic species of N.

Protection and antibody levels 35 years after primary series with hepatitis B vaccine and response to a booster dose.

Background And Aims: The duration of protection from hepatitis B vaccination in children and adults is not known. In 1981, we used three doses of plasma-derived hepatitis B vaccine to immunize a cohort of 1578 Alaska Native adults and children from 15 Alaska communities who were ≥6 months old.

Approach And Results: We tested persons for antibody to hepatitis B surface antigen (anti-HBs) levels 35 years after receiving the primary series.

Applications and Life Cycle Assessment of Shape Memory Polyethylene Terephthalate in Concrete for Crack Closure.

Shape memory polymer (SMP) products have been developed for application as crack closure devices in concrete. They have been made from PET in the form of both fibres and hollow tubes. Here, manufacturing methods using die-drawing and mandrel-drawing to induce shape memory are reported.

How I do it: intracapsular coblation tonsillectomy.

Background: There has been increased interest in the adoption of an intracapsular tonsillectomy technique in the UK in recent years. The adoption of any newer surgical technique inevitably is accompanied by an educational need.

Objectives: This paper aims to outline the equipment preparation and surgical steps for intracapsular coblation tonsillectomy, including recognition of the tonsillar capsule.

Imperfect Solutions to the Neoliberal Problem of Public Aging: A Critical Discourse Analysis of Public Narratives of Long-Term Residential Care.

Public representations of long-term residential care (LTRC) facilities have received limited focus in Canada, although literature from other countries indicates that public perceptions of LTRC tend to be negative, particularly in contexts that prioritize aging and dying in place. Using Manitoba as the study context, we investigate a question of broad relevance to the Canadian perspective; specifically, what are current public perceptions of the role and function of long-term care in the context of a changing health care system? Through critical discourse analysis, we identify four overarching discourses dominating public perceptions of LTRC: the problem of public aging, LTRC as an imperfect solution to the problem, LTRC as ambiguous social spaces, and LTRC as a last resort option. Building on prior theoretical work, we suggest that public perceptions of LTRC are informed by neoliberal discourses that privilege individual responsibility and problematize public care.

Quantitative matching of forensic evidence fragments utilizing 3D microscopy analysis of fracture surface replicas.

Silicone casts are widely used by practitioners in the comparative analysis of forensic items. Fractured surfaces carry unique details that can provide accurate quantitative comparisons of forensic fragments. In this study, a statistical analysis comparison protocol was applied to a set of 3D topological images of fractured surface pairs and their replicas to provide confidence in the quantitative statistical comparison between fractured items and their silicone cast replicas.

Sex Differences in Susceptibility to Coccidioidomycosis.

To assess sex-specific differences in coccidioidomycosis, a retrospective analysis of human patients, nonhuman primates, and veterinary patients (including the neutered status of the animal) was performed. We found higher rates of infection and severity in males. This observed increased infection risk suggests deeper biological underpinnings than solely occupational/exposure risks.

Coccidioidal Peritonitis: A Review of 17 Cases.

Coccidioidomycosis is the second most common endemic fungal infection in the United States. Prior descriptions of coccidioidal peritonitis include only single cases. We describe 17 new cases previously unreported from healthcare institutions in California.

Scoliosis flexibility correlates with post-operative outcomes following growth friendly surgery.

Purpose: The purpose of this study was to determine the relationship between pre-operative scoliosis flexibility and post-operative outcomes, including curve correction and complications, for patients who have been treated with growth friendly surgery (GFS) for early onset scoliosis (EOS).

Methods: The study was conducted as a retrospective review of prospectively collected data from an international, multicenter, EOS database. EOS patients with pre-operative flexibility radiographs (traction or bending) were identified.

A chromosomal-level reference genome of the widely utilized Coccidioides posadasii laboratory strain "Silveira".

Coccidioidomycosis is a common fungal disease that is endemic to arid and semi-arid regions of both American continents. Coccidioides immitis and Coccidioides posadasii are the etiological agents of the disease, also known as Valley Fever. For several decades, the C.

Deteriorating microbiomes in agriculture - the unintended effects of pesticides on microbial life.

There is emerging concern regarding the unintentional and often unrecognized antimicrobial properties of "non-antimicrobial" pesticides. This includes insecticides, herbicides, and fungicides commonly used in agriculture that are known to produce broad ranging, off-target effects on beneficial wildlife, even at seemingly non-toxic low dose exposures. Notably, these obscure adverse interactions may be related to host-associated microbiome damage occurring from antimicrobial effects, rather than the presumed toxic effects of pesticides on host tissue.