1,211 results match your criteria: "and McGill University[Affiliation]"

Premature Acute Myocardial Infarction Treated With Invasive Revascularization: Comparing STEMI With NSTEMI in a Population-Based Study of Young Patients.

Can J Cardiol

November 2024

The Canadian VIGOUR Centre, University of Alberta, Edmonton, Alberta, Canada; Division of Cardiology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada. Electronic address:

Article Synopsis
  • The study examined acute myocardial infarction (AMI) in young patients (ages 18-45) in Alberta, Canada, focusing on differences between ST-elevation myocardial infarction (STEMI) and non-ST-elevation myocardial infarction (NSTEMI).
  • Out of 1,679 young patients, STEMI was more common (61%) and had a higher in-hospital mortality rate (1.7%) compared to NSTEMI (0%).
  • Despite the initial higher mortality in STEMI patients, long-term outcomes (1 and 5 years) were similar for both groups among those who survived to hospital discharge, with smoking and dyslipidemia identified as significant risk factors.
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Objective: Observational studies have associated glucosamine, used to treat joint pain and osteoarthritis, with reductions in cancer incidence, although their study design was affected by selection bias. We assessed this association using a study design that mitigates this selection bias.

Methods: We used the UK Clinical Practice Research Datalink to identify a cohort of patients diagnosed with osteoarthritis during 1995 through 2017.

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This narrative review summarizes the current body of literature regarding periprocedural management of direct oral anticoagulant (DOAC)-treated patients undergoing digestive endoscopy since the publication of the 2022 American College of Gastroenterology - Canadian Association of Gastroenterology guidelines. We provide a detailed analysis of the thromboembolic risk, endoscopic procedure-specific bleeding risks, contemporary intraprocedural techniques to reduce the bleeding risk, and a summary of periprocedural DOAC guidelines developed by major gastrointestinal societies, including recommendations on procedure risk stratification. Despite data heterogeneity, the overall trend of the current literature supports the contemporary practice of a minimal DOAC interruption without the need for heparin bridging.

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Dysanapsis refers to a mismatch between airway tree caliber and lung size arising early in life. Dysanapsis assessed by computed tomography (CT) is evident by early adulthood and associated with chronic obstructive pulmonary disease (COPD) risk later in life. By examining the genetic factors associated with CT-assessed dysanapsis, we aimed to elucidate its molecular underpinnings and physiological significance across the lifespan.

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Objective: Systemic sclerosis (SSc) is a rare, chronic autoimmune disorder associated with disability, diminished physical function, fatigue, pain, and mental health concerns. We assessed minimal detectable changes (MDCs) of the Health Assessment Questionnaire-Disability Index (HAQ-DI), Patient-Reported Outcomes Measurement Information System-29 Profile version 2.0 (PROMIS-29v2.

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Infantile hypercalcemia type 1 (HCINF1), formerly known as Lightwood syndrome, is a subtype of hypercalcemia caused by loss-of-function biallelic mutations in the vitamin D catabolic enzyme, CYP24A1, which 24-hydroxylates the hormone 1,25-(OH)D. This short review focuses on the main features of the HCINF1 disease; emerging knowledge of the structure and function of the cytochrome P450, CYP24A1 and the location of inactivating mutations; the development of a rapid LC-MS/MS-based laboratory test for defective 24-hydroxylation; and future implications for bioanalytical assay and treatment of all types of vitamin D-related hypercalcemic conditions.

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A Prospective Study of Publicly Funded Molecular Testing of Indeterminate Thyroid Nodules: Canada's Experience.

J Clin Endocrinol Metab

May 2024

Division of Endocrinology, Department of Medicine, Centre Hospitalier universitaire de Québec, Université Laval, Quebec City, Canada.

Context: Indeterminate thyroid nodules (ITNs) lead to diagnostic surgeries in many countries. Use of molecular testing (MT) is endorsed by several guidelines, but costs are limitative, especially in public healthcare systems like in Canada.

Objectives: Primary objective: evaluate the clinical value of Thyroseq® v3 (TSv3) using benign call rate (BCR) in a real-world practice.

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Hypertension remains the leading cause of morbidity and mortality worldwide. Despite its prevalence, the development of novel antihypertensive therapies has only recently accelerated, with novel agents not yet commercialized, leaving a substantial proportion of individuals resistant to existing treatments. The intricate pathophysiology of hypertension is now understood to involve chronic low-grade inflammation, which places the immune system in the spotlight as a potential target for new therapeutics.

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Objective: Our objectives were to quantify the relationships among fatigue, pain interference, and physical disability in children with juvenile idiopathic arthritis (JIA) and to test whether fatigue mediates the relationship between pain interference and physical disability in JIA.

Methods: Patients enrolled within three months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry between February 2017 and May 2023 were included. Their parents completed the Patient-Reported Outcomes Measurement Information System fatigue and pain interference short proxy questionnaires and the Childhood Health Assessment Questionnaire disability index at registry enrollment.

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Article Synopsis
  • Breast cancer (BC) is rare in women aged ≤40 years with BRCA1/2 variants, but it often presents aggressive features; recent studies show HER2-low expression as a potential treatment target in this subset.
  • A study analyzed data from 3,547 young women with newly diagnosed HER2-negative BC, finding that 32.3% exhibited HER2-low status, which was more common in hormone receptor-positive and BRCA2 variant cases.
  • Results indicated that HER2-low BC had better disease-free survival (DFS) and overall survival (OS) compared to HER2-0, particularly in triple-negative tumors, with lower grades and more favorable outcomes linked to BRCA2 variants.
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In a randomized, open-label phase 3 study of 61 children aged 1-12 years old with X-linked hypophosphatemia (XLH) previously treated with conventional therapy, changing to burosumab every 2 weeks (Q2W) for 64 weeks improved the phosphate metabolism, radiographic rickets, and growth compared with conventional therapy. In this open-label extension period (weeks 64-88), 21 children continued burosumab Q2W at the previous dose or crossed over from conventional therapy to burosumab starting at 0.8 mg/kg Q2W with continued clinical radiographic assessments through week 88.

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Imaging in Rheumatic Immune-related Adverse Events.

Rheum Dis Clin North Am

May 2024

Division of Rheumatology, Department of Medicine, Jewish General Hospital and McGill University, 3755 Côte Ste-Catherine Road, Room A725, Montreal, Quebec H3T 1E2, Canada. Electronic address:

Since their introduction, immune checkpoint inhibitors have revolutionized cancer treatment by harnessing the body's own immune system as a defense against tumor growth. The downside of activating the immune system is the development of immune-related adverse events (irAEs), which mimic autoimmune disease of various organ systems. The musculoskeletal system is an uncommon, but substantial one for patients and can lead to long-term pain and disability that affects their quality of life.

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The Utility of Laboratory Investigations for the Assessment and Management of Rheumatic Immune Related Adverse Events.

Rheum Dis Clin North Am

May 2024

Department of Medicine, University of Alberta, 8-130 Clinical Sciences Building, 11350 83 Avenue NW, Edmonton, Alberta T6G 2G3, Canada. Electronic address:

Immune checkpoint inhibitors (ICIs) have greatly improved survival of several cancers with historically very poor prognosis. ICIs act by stimulating the patient's own immune system to fight cancer. Simultaneously, this immune activation can lead to immune-related adverse events (irAEs), including rheumatic manifestations (Rh-irAEs).

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This article addresses the discrepancy between Edouard Hitzig's and David Ferrier's findings on the cortical localization of movements in animals and Jean-Martin Charcot's findings in humans. The results of Hitzig's and Ferrier's vivisections were criticized by experimentalists in England and France as discordant, irreproducible, and inconclusive, and they were rejected by clinicians as irrelevant. Charcot addressed the gap between animal and human motor function by correlating motor deficits and focal epileptic seizures in patients to their autopsy findings.

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Background: Umbilical cord blood culture (UCBC) may have a diagnostic utility for early onset sepsis (EOS) detection in preterm infants. It may prevent sampling the newborn and collect a higher volume of blood for pathogenic identification.

Methods: Retrospective analysis at a tertiary care center in Canada of preterm infants ≤ 34 0/7 weeks' gestation with UCBC taken at birth.

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Calcitriol circulates at low levels in normal human and rodent fetuses, in part due to increased 24-hydroxylation of calcitriol and 25-hydroxyvitamin D by 24-hydroxylase (CYP24A1). Inactivating mutations of cause high postnatal levels of calcitriol and the human condition of infantile hypercalcemia type 1, but whether the fetus is disturbed by the loss of CYP24A1 is unknown. We hypothesized that loss of in fetal mice will cause high calcitriol, hypercalcemia, and increased placental calcium transport.

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Article Synopsis
  • - Pediatric gliomas, including low-grade (pLGG) and high-grade (pHGG), are the most common brain tumors in children, leading to serious health issues.
  • - Recent advancements in understanding the molecular biology of these tumors have led to improved treatment options, particularly for pLGG, and have focused on making therapies less toxic and more effective.
  • - Next generation sequencing techniques are essential for developing these new treatments, aiming to enhance survival rates and quality of life for affected children.
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JCO Mosunetuzumab is a CD20xCD3 T-cell-engaging bispecific antibody administered as an off-the-shelf, fixed-duration treatment in an outpatient setting. We report an updated analysis of the durability of response, by investigator assessment, after an overall median follow-up of 3.5 years in patients with relapsed/refractory indolent or aggressive B-cell non-Hodgkin lymphoma (iNHL/aNHL) from the dose-escalation stage of a phase I/II study of mosunetuzumab (ClinicalTrials.

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Ablation of Cyp27b1 eliminates calcitriol but does not disturb fetal mineral homeostasis or skeletal development. However, independent of fetal genotypes, maternal loss of Cyp27b1 altered fetal mineral and hormonal levels compared to offspring of WT dams. We hypothesized that these maternal influences would alter postnatal skeletal development.

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Article Synopsis
  • * Researchers analyzed data from 6,835 individuals aged 40 to 96, identifying a significant number of fractures and finding consistent associations between HR-pQCT bone measures and fracture risk across all age groups.
  • * The results indicate that low bone density is a persistent factor for fracture risk regardless of age, suggesting that the lower fracture risk observed in older adults with lower aBMD might arise from limitations in the DXA method rather than actual differences in bone health.
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Lumbar fusion is a risk factor for hip dislocation following total hip arthroplasty (THA). The objective was to compare joint/segment angles during sit-stand-sit in participants that had a THA with and without a lumbar fusion. The secondary objective was to compare pain, physical function, disability, and quality of life.

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Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.

Genet Med

June 2024

Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom. Electronic address:

Purpose: Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs.

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