Comparative analysis of brushless DC and switched reluctance motors for optimizing off-grid water pumping.

Off-grid water pumping systems (OGWPS) have become an increasingly popular area of research in the search for sustainable energy solutions. This paper presents a finite element method (FEM)-based design and analysis of Brushless-DC (BLDC) and Switched Reluctance Motors (SRM) designed for low-power water pumping applications. Utilizing adaptive finite element analysis (FEA), both motors were designed with identical ratings and design parameters to ensure a fair comparison.

Ustekinumab for type 1 diabetes in adolescents: a multicenter, double-blind, randomized phase 2 trial.

Immunotherapy targeting the autoimmune process in type 1 diabetes (T1D) can delay the loss of β-cells but needs to have minimal adverse effects to be an adjunct to insulin in the management of T1D. Ustekinumab binds to the shared p40 subunit of interleukin (IL)-12 and IL-23, targeting development of T helper 1 cells and T helper 17 cells (T1 and T17 cells) implicated in the pathogenesis of T1D. We conducted a double-blind, randomized controlled trial of ustekinumab in 72 adolescents aged 12-18 years with recent-onset T1D.

Autoinflammatory Diseases: A Review.

Autoinflammatory disease (AID) is a vast spectrum of disorders characterized by recurrent attacks of sterile inflammation. Since the first cloning of the familial Mediterranean fever gene in 1997, there has been a rapid rate of discovery of new AIDs. As of 2022, there have been 485 inborn errors of immunity documented by the International Union of Immunological Societies, for which many display aspects of autoinflammation.

Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF.

People living with cystic fibrosis (pwCF) homozygous for F508del present more severe phenotypes. PwCF with compound heterozygous genotypes F508del /A455E and F508del /L206W may have milder cystic fibrosis (CF) phenotypes. We compared F508del homozygotes and common compound heterozygotes (F508del and a second pathogenic variant) in adult patients.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

Purpose: To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases.

Methods: We prospectively enrolled 297 probands who met eligibility criteria and received ES across 5 sites in Ontario, Canada, and extracted data from medical records and clinician surveys. Using the Fryback and Thornbury Efficacy Framework, we assessed diagnostic accuracy by examining laboratory interpretation of results and assessed diagnostic thinking by examining the clinical interpretation of results and whether clinical-molecular diagnoses would have been achieved via alternative hypothetical molecular tests.

The use and effects of telemedicine on complementary, alternative, and integrative medicine practices: a scoping review.

Background: Telemedicine includes the delivery of health-care services and sharing of health information across distances. Past research has found that telemedicine can play a role in enhancing complementary, alternative, and integrative medicine (CAIM) while allowing the maintenance of cultural values and ancestral knowledge. This scoping review synthesized evidence regarding the use of telemedicine in the context of CAIM.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1.

Multi-criterion optimization of invasive antenna applicators for Au@FeO4, Au@-FeO and Au@-FeO mediated microwave ablation treatment.

Magnetic nanoparticle (MNP) mediated microwave ablation has the great potential at present to address challenges associated with treatment planning such as maximum heat generation in the vicinity of targeted tissues in lesser penetration time. Further, the antenna applicators injected in human phantom must be rigid and thin. The derivative-free optimization algorithms are carried out for optimum design of monopole, slot, dipole, and tapered slot antenna applicators for ablation of tumour tissues invasively.

Effect of the COVID-19 pandemic on individuals with spinal cord injury: Mental health and use of telehealth.

Introduction: Limited access to health care services and the self-isolation measures due to the coronavirus disease 2019 (COVID-19) pandemic may have had additional unintended negative effects, affecting the health of individuals with spinal cord injury (SCI).

Objectives: To examine the perceived influence of the COVID-19 pandemic on individuals with SCI. First, this study looked to understand how the pandemic affected the use and perception of telehealth services for these individuals.

Micronutrient deficiencies are frequent in adult patients with and without celiac disease on a gluten-free diet, regardless of duration and adherence to the diet.

Objectives: The only treatment for celiac disease (CD) is a strict gluten-free diet (GFD). Nutritional deficiencies are common in CD; however, how this is influenced by the presence of symptoms, duration of CD, and compliance of GFD is less clear. The objective of this study was to compare nutritional deficiencies in patients with CD to those of nonceliac populations on a GFD.

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.

Purpose: RABGAP1 is a GTPase-activating protein implicated in a variety of cellular and molecular processes, including mitosis, cell migration, vesicular trafficking, and mTOR signaling. There are no known Mendelian diseases caused by variants in RABGAP1.

Methods: Through GeneMatcher, we identified 5 patients from 3 unrelated families with homozygous variants in the RABGAP1 gene found on exome sequencing.

Perspectives from the spinal cord injury community with teleSCI services during the COVID-19 pandemic: a qualitative study.

Purpose: To explore individuals with spinal cord injury (SCI) experiences with and perceptions towards teleSCI services during the COVID-19 global pandemic in British Columbia, Canada.

Method: Using maximum variation sampling, we invited selected individuals from a larger quantitative dataset ( = 71) to partake in an interview. In total, 12 individuals participated in the study.

Anaesthesia for tracheal resection and anastomosis.

Tracheal resection anastomosis is one of the most challenging surgeries. Notable advances in this field have made possible a variety of surgical, anesthetic, and airway management options. There are reports of newer approaches ranging from use of supraglottic airway devices, regional anesthesia, and extracorporeal support.

A phase 1b open-label dose-finding study of ustekinumab in young adults with type 1 diabetes.

Objectives: We assessed the safety of ustekinumab (a monoclonal antibody used in psoriasis to target the IL-12 and IL-23 pathways) in a small cohort of recent-onset (<100 days of diagnosis) adults with type 1 diabetes (T1D) by conducting a pilot open-label dose-finding and mechanistic study (NCT02117765) at the University of British Columbia.

Methods: We sequentially enrolled 20 participants into four subcutaneous dosing cohorts: (i) 45 mg loading weeks 0/4/16, (ii) 45 mg maintenance weeks 0/4/16/28/40, (iii) 90 mg loading weeks 0/4/16, and (iv) 90 mg maintenance weeks 0/4/16/28/40. The primary endpoint was safety as assessed by an independent data and safety monitoring board (DSMB) but we also measured mixed meal tolerance test C-peptide, insulin use/kg, and HbA1c.

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.

Kabuki syndrome (KS) is a neurodevelopmental disorder characterized by hypotonia, intellectual disability, skeletal anomalies, and postnatal growth restriction. The characteristic facial appearance is not pathognomonic for KS as several other conditions demonstrate overlapping features. For 20-30% of children with a clinical diagnosis of KS, no causal variant is identified by conventional genetic testing of the two associated genes, KMT2D and KDM6A.