Investigating the pathogenicity of the recessive p.A251T variant in monogenic diabetes using iPSC-derived beta-like cells.

Monogenic diabetes, formerly called Maturity-Onset Diabetes of the Young (MODY), involves single-gene mutations, typically with dominant inheritance, and has been associated with variants in 14 genes. Among these, mutations are the most common, and their diagnosis allows the use of alternative therapies, including sulfonylureas. In an earlier study, we described a variant displaying recessive transmission, p.

A retrospective study on the comparision of pathological tumour necrosis of conventional versus ultrahypofractionated preoperative radiotherapy in localised extremity soft tissue sarcoma and its correlation with clinical outcomes: A retrospective study on the comparision of pathological tumour necrosis of CONV-RT versus UHYPO-RT preoperative radiotherapy in localised extremity soft tissue sarcoma and its correlation with clinical outcomes.

Background And Purpose: We aimed to determine if ultra-hypofractionated radiotherapy (UHYPO-RT) delivering 6Gy x 5 fractions yields similar tumour necrosis compared to conventional radiotherapy (CONV-RT) with 2Gy x 25 fractions in soft tissue sarcoma (STS). The clinical significance of tumor necrosis on loco-regional recurrence-free survival (LRFS), distant disease-free survival (DDFS), and overall survival (OS) were assessed.

Materials And Methods: Patients with localised STS treated with CONV-RT or UHYPO-RT followed by surgery were included.

The cellular and molecular properties of capsule surrounding silicone implants in humans vary uniquely according to the tissue type adjacent to the implant.

The foreign body reaction (FBR) to biomaterials results in fibrous encapsulation. Excessive capsule fibrosis (capsular contracture) is a major challenge to the long-term stability of implants. Clinical data suggests that the tissue type in contact with silicone breast implants alters susceptibility to developing capsular contracture; however, the tissue-specific inflammatory and fibrotic characteristics of capsule have not been well characterized at the cellular and molecular level.

Spatial modeling of ambient concentrations of volatile organic compounds in Montreal, Canada.

Unlabelled: Volatile organic compounds (VOCs) are components of the complex mixture of air pollutants within cities and can cause various adverse health effects. Therefore, it is necessary to understand their spatial distribution for exposure assessment in epidemiological studies.

Objectives: The objective was to model measured concentrations of five VOCs within the city of Montreal, Canada, developing spatial prediction models that can be used in health studies.

The Psychological Impact of COVID-19 on Arthroplasty Surgeons.

Background: After the COVID-19 pandemic declaration in March 2020, all the elective total joint replacement surgeries in Canada were abruptly canceled for an indefinite period of time. The principal objective of this study was to determine the prevalence of psychological morbidity experienced by arthroplasty surgeons during the peak of the first wave of the COVID-19 pandemic. Secondary objectives included characterizing influential variables affecting the surgeon's well-being and suggesting directives for improvement.

Ecological studies of COVID-19 and air pollution: How useful are they?

Background: Results from ecological studies have suggested that air pollution increases the risk of developing and dying from COVID-19. Drawing causal inferences from the measures of association reported in ecological studies is fraught with challenges given biases arising from an outcome whose ascertainment is incomplete, varies by region, time, and across sociodemographic characteristics, and cannot account for clustering or within-area heterogeneity. Through a series of analyses, we illustrate the dangers of using ecological studies to assess whether ambient air pollution increases the risk of dying from, or transmitting, COVID-19.

The association between the incidence of post-menopausal breast cancer and residential greenness.

Background: There is little data as to whether exposure to residential greenness is associated with the incidence of breast cancer. Lack of physical activity and obesity are two of the accepted risk factors for postmenopausal breast cancer and living near green areas may contribute to an active lifestyle and maintaining a normal body mass index and, consequently, residential greenness may be associated with lower incidence rates.

Objectives: The objective of this study was to determine whether there was an association between past exposure to residential greenness and the incidence of invasive postmenopausal breast cancer among Canadian women living in Montreal, Quebec, in the mid-2000s.

Household determinants of biocontaminant exposures in Canadian homes.

Exposure to biocontaminants, such as dust mites, animal dander, bacteria, and mold, is associated with a range of health effects. This study identified household characteristics associated with indoor biocontaminant loadings in four Canadian cities. Floor dust was collected in 290 Canadian homes in Edmonton, Halifax, Montreal, and Windsor.

Inter-rater reliability of occupational exposure assessment in a case-control study of female breast cancer.

The objective of this paper was to estimate the inter-rater reliability of expert assessments of occupational exposures. An inter-rater reliability sub-study was conducted within a population-based case-control study of postmenopausal breast cancer. Detailed information on lifetime occupational histories was obtained from participants and two industrial hygienists assigned exposures to 185 jobs using a checklist of 293 agents.

Making the Correct Diagnosis in Thrombotic Microangiopathy: A Narrative Review.

Purpose Of Review: Thrombotic microangiopathy (TMA) is suspected in patients presenting with thrombocytopenia and evidence of a microangiopathic hemolytic anemia. Patients with TMA can be critically ill, so rapid and accurate identification of the underlying etiology is essential. Due to better insights into pathophysiology and causes of TMA, we can now categorize TMAs as thrombotic thrombocytopenic purpura, postinfectious (mainly Shiga toxin-producing -induced) hemolytic uremic syndrome (HUS), TMA associated with a coexisting condition, or atypical HUS (aHUS).

Redesigning operating room booking in a tertiary care academic centre during the COVID-19 pandemic.

With the closure of most operating rooms (ORs) during the coronavirus disease 2019 (COVID-19) pandemic, the traditional allocation of block OR time needed to be redesigned. An important factor permitting the treatment of patients in a prioritized fashion was our pre-existing centralized OR booking (CORB) framework, which already required surgeons to categorize the priority level for each patient. The CORB, in conjunction with the multidisciplinary OR oversight committee that was formed during COVID-19 to review and triage the urgent cases, allowed for prioritization of cases among surgical services.

Methodological Considerations for Epidemiological Studies of Air Pollution and the SARS and COVID-19 Coronavirus Outbreaks.

Background: Studies have reported that ambient air pollution is associated with an increased risk of developing or dying from coronavirus-2 (COVID-19). Methodological approaches to investigate the health impacts of air pollution on epidemics should differ from those used for chronic diseases, but the methods used in these studies have not been appraised critically.

Objectives: Our study aimed to identify and critique the methodological approaches of studies of air pollution on infections and mortality due to COVID-19 and to identify and critique the methodological approaches of similar studies concerning severe acute respiratory syndrome (SARS).

Impact of Loneliness on Brain Health and Quality of Life Among Adults Living With HIV in Canada.

Background: People aging with HIV are at risk for loneliness, with stigmatization and economic marginalization added to the health challenges arising from chronic infection. This study provides evidence for the extent, contributors, and consequences of loneliness in people living with HIV, focusing on brain health and quality of life.

Setting: Cross-sectional data from 856 middle-aged and older adults living with HIV recruited from 5 urban specialty clinics in Canada were drawn from the inaugural visit of the Positive Brain Health Now cohort study.

The emergence of animal models of chronic pain and logistical and methodological issues concerning their use.

This paper examines the development of and some logistical and methodological issues surrounding the use of animal models of chronic pain. The first section addresses the emergent move towards mechanism-based and disease-related animal models of chronic pain that has accelerated since the late 1980s following publication of Bennett and Xie's (Pain 33:87-107, 1998) paper on chronic constriction injury of the sciatic nerve and Stein et al.'s (Pharmacol Biochem Behav 31:445-451, 1988) paper on unilateral hind paw inflammation with complete Freund's adjuvant.

Associations between incident breast cancer and ambient concentrations of nitrogen dioxide from a national land use regression model in the Canadian National Breast Screening Study.

Background: Air pollution has been classified as a human carcinogen based largely on epidemiological studies of lung cancer. Recent research suggests that exposure to ambient air pollution increases the risk of female breast cancer especially in premenopausal women.

Methods: Our objective was to determine the association between residential exposure to ambient nitrogen dioxide (NO) and newly diagnosed cases of invasive breast cancer in a cohort of 89,247 women enrolled in the Canadian National Breast Screening Study between 1980 and 1985.

The Interplay Between Age and Frailty in People Living With HIV: Results From an 11-Year Follow-up Observational Study.

Between 2006 and 2017, frailty prevalence decreased in HIV-positive individuals aged 50 years but presented a 3-fold increase among those 75 years of age. This dynamic relationship, defined as the frailty compression ratio, represents the net result of gero-inducing and gero-protective competing forces, described in the cohort.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Purpose: Skeletal muscle growth and regeneration rely on muscle stem cells, called satellite cells. Specific transcription factors, particularly PAX7, are key regulators of the function of these cells. Knockout of this factor in mice leads to poor postnatal survival; however, the consequences of a lack of PAX7 in humans have not been established.

Household air pollution and measures of blood pressure, arterial stiffness and central haemodynamics.

Objective: We evaluated the exposure-response associations between personal exposure to air pollution from biomass stoves and multiple vascular and haemodynamic parameters in rural Chinese women.

Methods: We analysed the baseline information from a longitudinal study in southwestern China. Women's brachial and central blood pressure and pulse pressure, carotid-femoral pulse wave velocity and augmentation index, and their 48-hour personal exposures to fine particulate matter (PM) and black carbon were measured in summer and winter.

Associations between ambient air pollution and daily mortality in a cohort of congestive heart failure: Case-crossover and nested case-control analyses using a distributed lag nonlinear model.

Background: Persons with congestive heart failure may be at higher risk of the acute effects related to daily fluctuations in ambient air pollution. To meet some of the limitations of previous studies using grouped-analysis, we developed a cohort study of persons with congestive heart failure to estimate whether daily non-accidental mortality were associated with spatially-resolved, daily exposures to ambient nitrogen dioxide (NO) and ozone (O), and whether these associations were modified according to a series of indicators potentially reflecting complications or worsening of health.

Methods: We constructed the cohort from the linkage of administrative health databases.