Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Faecal immunochemical tests for patients with symptoms suggestive of colorectal cancer: An updated systematic review and multiple-threshold meta-analysis of diagnostic test accuracy studies.

Aim: Extending faecal immunochemical tests for haemoglobin (FIT) to all primary care patients with symptoms suggestive of colorectal cancer (CRC) could identify people who are likely to benefit from colonoscopy and facilitate earlier treatment. The aim of this work was to investigate the diagnostic accuracy of FIT across different analysers at different thresholds, as a single test or in duplicate (dual FIT).

Method: This systematic review and meta-analysis searched 10 sources (December 2022).

Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England.

Introduction: The National Health Service (NHS) in England is the first to offer whole genome sequencing (WGS) as part of standard care. As a high-income country with a universal healthcare system, England contributes a valuable perspective to global developments in WGS.

Methods: We used an implementation science approach with mixed methods to characterise delivery of WGS for paediatric rare diseases: observations and field notes of consent appointments in clinical genetics and mainstream settings and follow-up qualitative semi-structured interviews with the clinical team.

Lost in translation: the lack of agreement between surgeons and scientists regarding biomaterials research and innovation for treating bone defects.

Background: With over 2 million grafts performed annually, bone ranks second only to blood in the frequency of transplants. This high demand is primarily driven by the persistent challenges posed by bone defects, particularly following trauma or surgical interventions such as tumour excision. The demand for effective and efficient treatments has increased exponentially in the twenty-first century.

Genetic disorders in maternal medicine.

The role of genetic testing within maternal medicine is expanding. Advancing technology and the increasing availability of genetic testing have seen more patients receiving a genetic diagnosis than ever before. Improved healthcare and understanding of these rare diseases means that many patients are living well into their reproductive years and starting families.

Anesthetic-sparing effect of dexmedetomidine during total intravenous anesthesia for children undergoing dental surgery: A randomized controlled trial.

Background: Dexmedetomidine, an α-adrenergic agonist, reduces propofol and remifentanil requirements when used as an adjunct to total intravenous anesthesia in adults, but studies in a pediatric population are sparse. This study investigates the magnitude of dose-sparing effects of a postinduction dexmedetomidine bolus on propofol and remifentanil requirements during pediatric surgery.

Methods: In this randomized, double-blind, controlled trial, children aged 2-10 years undergoing elective dental surgery were assigned to one of four groups: placebo, 0.

What About Empathy? A Qualitative Study Exploring the Role of a Podcast as an Asynchronous Empathy Teaching Tool.

Purpose: Though medical education podcasts are fast gaining popularity, they are overwhelmingly focused on teaching the medical expert role of physicians. We explored how medical learners and educators engaged with and learned from an empathy and communication-focused podcast and sought their recommendations for integrating the podcast into medical curricula.

Methods: Six virtual, semi-structured focus groups were conducted with educators and learners within a large urban hospital and university setting.

How Framing Bias Impacts Preferences for Innovation in Bone Tissue Engineering.

It is currently unknown if surgeons and biomaterial scientists &or tissue engineers (BS&orTE) process and evaluate information in similar or different (un)biased ways. For the gold standard of surgery to move "from bench to bedside," there must naturally be synergies between these key stakeholders' perspectives. Because only a small number of biomaterials and tissue engineering innovations have been translated into the clinic today, we hypothesized that this lack of translation is rooted in the psychology of surgeons and BS&orTE.

A comparative analysis of alternative splicing patterns in Atlantic salmon (Salmo salar) in response to Moritella viscosa and sea lice (Lepeophtheirus salmonis) infection.

Moritella viscosa (M. viscosa) and sea lice (Lepeophtheirus salmonis) are severe pathogens that primarily infect the skin of Atlantic salmon (Salmo salar), which cause significant economic losses in the farming industry. However, the pathogenesis and molecular mechanisms underlying the host's immune defence at the post-transcriptional level remain unclear.

Effect of Low-Level Tragus Stimulation on Cardiac Metabolism in Heart Failure with Preserved Ejection Fraction: A Transcriptomics-Based Analysis.

Abnormal cardiac metabolism precedes and contributes to structural changes in heart failure. Low-level tragus stimulation (LLTS) can attenuate structural remodeling in heart failure with preserved ejection fraction (HFpEF). The role of LLTS on cardiac metabolism is not known.

A survey of practice in the anesthetic management of adolescent idiopathic scoliosis spine fusion by the North American Pediatric Spine Anesthesiologists Collaborative.

Background: Adolescent Idiopathic Scoliosis (AIS) affects 2%-4% of the general pediatric population. While surgical correction remains one of the most common orthopedic procedures performed in pediatrics, limited consensus exists on the perioperative anesthetic management.

Aims: To examine the current state of anesthetic management of typical AIS spine fusions at institutions which have a dedicated pediatric orthopedic spine surgeon.

Pediatric anesthesia in North America.

Background And Objectives: This educational review outlines the current landscape of pediatric anesthesia training, care delivery, and challenges across Canada, Barbados, and the United States.

Descriptions And Conclusions: Approximately 5% of Canadian children undergo general anesthesia annually, administered by fellowship-trained pediatric anesthesiologists in children's hospitals, general anesthesiologists in community hospitals, or family practice anesthesiologists in underserved regions. In Canada, the focus is on national-level evaluation and accreditation of pediatric anesthesia fellowship training, addressing challenges arising from workforce shortages, particularly in remote areas.

An assistive listening device improves hearing following aneurysmal subarachnoid haemorrhage.

Background And Purpose: Hearing impairment is common following aneurysmal subarachnoid haemorrhage (aSAH). Previous studies have demonstrated that auditory processing disorder (APD) is the primary underlying pathology. Assistive listening devices (ALDs) can be used to manage APD but have not been explored in aSAH.

Noninvasive Vagus Nerve Stimulation in Postural Tachycardia Syndrome: A Randomized Clinical Trial.

Background: Low-level transcutaneous stimulation of the auricular branch of the vagus nerve at the tragus is antiarrhythmic and anti-inflammatory in animals and humans. Preliminary studies show that transcutaneous vagus nerve stimulation (tVNS) is beneficial in animal models of postural tachycardia syndrome (POTS).

Objectives: In this study the authors conducted a sham-controlled, double-blind, randomized clinical trial to examine the effect of tVNS on POTS over a 2-month period relative to sham stimulation.

An Individualized Postoperative Pain Risk Communication Tool for Use in Pediatric Surgery: Co-Design and Usability Evaluation.

Background: Risk identification and communication tools have the potential to improve health care by supporting clinician-patient or family discussion of treatment risks and benefits and helping patients make more informed decisions; however, they have yet to be tailored to pediatric surgery. User-centered design principles can help to ensure the successful development and uptake of health care tools.

Objective: We aimed to develop and evaluate the usability of an easy-to-use tool to communicate a child's risk of postoperative pain to improve informed and collaborative preoperative decision-making between clinicians and families.

Morphological and molecular characterization of Yamaguti, 1934 (Digenea: Hemiuridae) from the daggertooth pike conger (Forsskål).

Hemiurid digeneans conspecific with Yamaguti, 1934 (the type species of the genus Yamaguti, 1934) were collected from the stomach of the daggertooth pike conger (Forsskål) off the Persian Gulf of Iran. This study aimed to provide a detailed characterization of , including measurements, illustrations and scanning electron microscopy (s.e.

Transcriptome analysis revealed immune responses in the kidney of Atlantic salmon (Salmo salar) co-infected with sea lice (Lepeophtheirus salmonis) and infectious salmon anemia virus.

Sea lice (Lepeophtheirus salmonis) and infectious salmon anemia virus (ISAv) are two of the most important pathogens in Atlantic salmon (Salmo salar) farming and typically cause substantial economic losses to the industry. However, the immune interactions between hosts and these pathogens are still unclear, especially in the scenario of co-infection. In this study, we artificially infected Atlantic salmon with sea lice and ISAv, and investigated the gene expression patterns of Atlantic salmon head kidneys in response to both lice only and co-infection with lice and ISAv by transcriptomic analysis.

Temperature impacts Atlantic salmon's () immunological response to infectious salmon anemia virus (ISAv).

Ocean temperatures continue to rise annually due to the ever-growing consequences of global climate change. These temperature changes can have an impact on the immunological robustness of cultured fish, especially cold-water species such as Atlantic salmon. The salmon farming industry already loses hundreds of millions of dollars each year to infectious and non-infectious diseases.

Factors impacting informed consent in cosmetic breast augmentation.

Background: For women who undergo cosmetic breast augmentation, their post-operative risk assessment may not match their pre-operative understanding of the involved risks and likelihood of revision surgeries. This may be due to the potential issues surrounding whether patients are being fully informed about all possible risks and related financial implications during the consent phases of patient/doctor consultation.

Methods: To explore comprehension, risk preference, and perceptions of breast augmentation procedure, we conducted a recorded online experiment with 178 women (18-40 years) who received varying amounts of risk-related information from two experienced breast surgeons in a hypothetical first consultation scenario.

Qualitative evaluation of rapid implementation of remote blood pressure self-monitoring in pregnancy during Covid-19.

In March 2020, the World Health Organisation named the severe acute respiratory syndrome coronavirus 2 (Sars-CoV-2), which causes corona virus disease 2019 (COVID -19), as a pandemic. Pregnant women were considered at increased risk of developing severe COVID-19 after viral infection. In response maternity services reduced face-to-face consultations with high-risk pregnant women by supplying blood pressure monitors for supported self-monitoring.

Automatic detection of multilayer hexagonal boron nitride in optical images using deep learning-based computer vision.

Computer vision algorithms can quickly analyze numerous images and identify useful information with high accuracy. Recently, computer vision has been used to identify 2D materials in microscope images. 2D materials have important fundamental properties allowing for their use in many potential applications, including many in quantum information science and engineering.