Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

In real life: a curriculum for developing students' self-efficacy and outcome expectations through purpose-driven career exploration and planning within a core STEM course.

Career planning and exploration are often seen as "out of class" work-important but separate from disciplinary learning. This separation forces students to find time outside their already demanding schedules and to navigate unfamiliar higher education spaces, creating structural barriers and impeding access to these resources. In an effort to create more equitable access to career exploration and education, we developed the "in real life" (IRL) curriculum to provide students with opportunities to reflect on how their academic experiences align with their broader career goals within the context of their introductory biology course.

Evaluation of waning of IgG antibody responses after rVSVΔG-ZEBOV-GP and Ad26.ZEBOV, MVA-BN-Filo Ebola virus disease vaccines: a modelling study from the PREVAC randomized trial.

rVSVΔG-ZEBOV-GP and Ad26.ZEBOV, MVA-BN-Filo are WHO-prequalified vaccination regimens against Ebola virus disease (EVD). Challenges associated with measuring long-term clinical protection warrant the evaluation of immune response kinetics after vaccination.

Using journey maps to understand patientreported outcome measures in the cancer journey.

Purpose: The purpose of this qualitative study is to demonstrate the use of patient-reported outcome measure-based journey maps in facilitating clinicians' ability to communicate with patients about their well-being at each phase of their cancer journey.

Methods: Individual semi-structured online and phone interviews were conducted with older adults in British Columbia, Canada. Participants (n = 6) were asked to describe their cancer experiences associated with their well-being score using the Edmonton Symptom Assessment System revised questionnaire throughout their cancer journey (i.

The history of cytoreduction and HIPEC: Heating up or just blowing smoke?

Peritoneal carcinomatosis carries a grim survival prognosis with complications ranging from the physical to the psychological. Cytoreductive surgery and infusion of heated intraperitoneal chemotherapy have evolved to become a commonly used treatment option in the multi-modal management of peritoneal carcinomatosis. Here, we examine the origins of surgery over a century ago as a potential cure for peritoneal carcinomatosis and how it has evolved with our knowledge of the disease to its present state.

Prediction of non-resectability in tubo-ovarian cancer patients using Peritoneal Cancer Index - A prospective multicentric study using imaging (ISAAC study).

Background: The aim was to evaluate the performance of the Peritoneal Cancer Index (PCI) using imaging (ultrasound, contrast-enhanced computed tomography (CT), and whole-body diffusion-weighted magnetic resonance imaging (WB-DWI/MRI) in assessing peritoneal carcinomatosis and predicting non-resectability in tubo-ovarian carcinoma patients.

Methods: This was a prospective multicenter observational study. We considered all patients with suspected primary ovarian/tubal/peritoneal cancer who underwent preoperative ultrasound, CT, and WB-DWI/MRI (if available).

Development of a Canadian Guidance for reporting real-world evidence for regulatory and health-technology assessment (HTA) decision-making.

Background And Objective: Real-world evidence (RWE) can complement and fill knowledge gaps from randomized controlled trials to assist in health-technology assessment (HTA) for regulatory decision-making. However, the generation of RWE is an intricate process with many sequential decision points, and different methods and approaches may impact the quality and reliability of evidence. Standardization and transparency in reporting these decisions is imperative to appraise RWE and incorporate it into HTA decision-making.

Impact of Atrioventricular Valve Intervention at Each Stage of Single Ventricle Palliation.

Significant atrioventricular valve dysfunction can be associated with mortality or need for transplant in functionally univentricular heart patients undergoing staged palliation. The purposes of this study are to characterize the impact of concomitant atrioventricular valve intervention on outcomes at each stage of single ventricle palliation and to identify risk factors associated with poor outcomes in these patients. The Society of Thoracic Surgeons Congenital Heart Surgery Database was queried for functionally univentricular heart patients undergoing single ventricle palliation from 2013 through 2022.

Predictors of substance use during treatment for addiction: A network analysis of ecological momentary assessment data.

Background And Aims: Ecological momentary assessment (EMA) studies have previously demonstrated a prospective influence of craving on substance use in the following hours. Conceptualizing substance use as a dynamic system of causal elements could provide valuable insights into the interaction of craving with other symptoms in the process of relapse. The aim of this study was to improve the understanding of these daily life dynamic inter-relationships by applying dynamic networks analyses to EMA data sets.

The impact of the COVID-19 pandemic on health-related quality of life of cancer patients in British Columbia.

Background: The COVID-19 pandemic resulted in unprecedented changes to cancer care in many countries, impacting cancer patients' lives in numerous ways. This study examines the impact of changes in cancer care on patient's health-related quality of life (HRQL), which is a key outcome in cancer care. The study aims to estimate patients' self-reported HRQL before and during the pandemic and identify predictive factors for their physical and mental wellbeing.

Detection and Quantification of Programmed Cell Death in : The Example of S-Nitrosoglutathione.

Chlamydomonas () is a unicellular model alga that has been shown to undergo programmed cell death (PCD) that can be triggered in response to different stresses. We have recently shown that is particularly well suited to the study and quantification of PCD. We have shown for the first time that S-nitrosoglutathione (GSNO), a nitric oxide (NO) donor, is able to induce PCD and can be used as a study system in .

Advancing evidence-based practice through the Knowledge Translation Challenge: Nurses' important roles in research, implementation science and practice change.

Aim: To describe a knowledge translation capacity-building initiative and illustrate the roles of nurses in practice change using an exemplar case study.

Design: The report uses observational methods and reflection.

Methods: The Knowledge Translation Challenge program involves a multi-component intervention across several sites.

Governing with public engagement: an anticipatory approach to human genome editing.

In response to calls for public engagement on human genome editing (HGE), which intensified after the 2018 He Jiankui scandal that resulted in the implantation of genetically modified embryos, we detail an anticipatory approach to the governance of HGE. By soliciting multidisciplinary experts' input on the drivers and uncertainties of HGE development, we developed a set of plausible future scenarios to ascertain publics values-specifically, their hopes and concerns regarding the novel technology and its applications. In turn, we gathered a subset of multidisciplinary experts to propose governance recommendations for HGE that incorporate identified publics' values.

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Spastic paraplegia type 3A (SPG3A) is the second most common form of hereditary spastic paraplegia (HSP). This autosomal-dominant-inherited motor disorder is caused by heterozygous variants in the ATL1 gene which usually presents as a pure childhood-onset spastic paraplegia. Affected individuals present muscle weakness and spasticity in the lower limbs, with symptom onset in the first decade of life.

Structure-based design of a Plasmodium vivax Duffy-binding protein immunogen focuses the antibody response to functional epitopes.

The Duffy-binding protein (DBP) is a promising antigen for a malaria vaccine that would protect against clinical symptoms caused by Plasmodium vivax infection. Region II of DBP (DBP-II) contains the receptor-binding domain that engages host red blood cells, but DBP-II vaccines elicit many non-neutralizing antibodies that bind distal to the receptor-binding surface. Here, we engineered a truncated DBP-II immunogen that focuses the immune response to the receptor-binding surface.

Prediction of nonresectability using the updated Predictive Index value model assessed by imaging and surgery in tubo-ovarian cancer: a prospective multicenter ISAAC study.

Background: A laparoscopy-based scoring system was developed by Fagotti et al (Fagotti or Predictive Index value (PIV)score) based on the intraoperative presence or absence of carcinomatosis on predefined sites. Later, the authors updated the PIV score calculated only in the absence of one or both absolute criteria of nonresectability (mesenteric retraction and miliary carcinomatosis of the small bowel) (updated PIV model).

Objective: The aim was to demonstrate the noninferiority of ultrasound to other imaging methods (contrast enhanced computed tomography (CT) and whole-body diffusion-weighted magnetic resonance imaging (WB-DWI)/MRI) in predicting nonresectable tumor (defined as residual disease >1 cm) using the updated PIV model in patients with tubo-ovarian cancer.

RBD design increases the functional antibody titers elicited by SARS-CoV-2 spike vaccination.

Most COVID-19 vaccines contain the SARS-CoV-2 spike protein as an antigen, but they lose efficacy as neutralizing antibody titers wane and escape variants emerge. Modifying the spike antigen to increase neutralizing antibody titers would help counteract this decrease in titer. We previously used a structure-based computational design method to identify nine amino acid changes in the receptor-binding domain (RBD) of spike that stabilize the RBD and increase the neutralizing antibody titers elicited by vaccination.

Barriers to cancer treatment for people experiencing socioeconomic disadvantage in high-income countries: a scoping review.

Background: Despite advances in cancer research and treatment, the burden of cancer is not evenly distributed. People experiencing socioeconomic disadvantage have higher rates of cancer, later stage at diagnoses, and are dying of cancers that are preventable and screen-detectable. However, less is known about barriers to accessing cancer treatment.

A Self-Assembling Pfs230D1-Ferritin Nanoparticle Vaccine Has Potent and Durable Malaria Transmission-Reducing Activity.

Malaria is caused by eukaryotic protozoan parasites of the genus . There are 249 million new cases and 608,000 deaths annually, and new interventions are desperately needed. Malaria vaccines can be divided into three categories: liver stage, blood stage, or transmission-blocking vaccines.