Office des Personnes Handicapées du Québec

Susceptibility to infectious diseases is under genetic control in humans. Animal models provide an ideal tool to study the genetic component of susceptibility and to identify candidate genes that can then be tested for association or linkage studies in human populations from endemic areas of disease. The Nramp1 gene was isolated by positional cloning the host resistance locus Bcg/Ity/Lsh, and mutations at this locus impair the resistance of mice to infections with intracellular parasites, such as Salmonella, Leishmania, and Mycobacterium. Allelic variants at the human Nramp1 homologue have recently been found to be associated with susceptibility to tuberculosis and leprosy in humans. The Nramp1 protein is an integral membrane protein expressed exclusively in the lysosomal compartment of monocytes and macrophages. After phagocytosis, Nramp1 is targeted to the membrane of the microbe-containing phagosome, where it may modify the intraphagosomal milieu to affect microbial replication. Although the biochemical mechanism of action of Nramp1 at that site remains unknown, Nramp homologues have been identified in many other animal species and actually define a protein family conserved from bacteria to humans. Some of these homologues have been shown to be divalent cation transporters. Recently, a second member of the mammalian Nramp family, Nramp2, was discovered and shown to be mutated in animal models of iron deficiency. The Nramp2 protein was subsequently shown to be the major transferrin-independent iron uptake system of the intestine. Together, these results suggest that Nramp1 may control intracellular microbial replication by actively removing iron or other divalent cations from the phagosomal space.

BACKGROUND: Adalimumab is the only approved compound for the treatment of adult patients with moderate-to-severe hidradenitis suppurativa (HS) who did not respond to a systemic classical treatment. Despite its significant short- and long-term efficacy, a percentage of patients do not respond sufficiently. Moreover, some primary responders experience a response loss with time. OBJECTIVE: To analyse the effectiveness of adalimumab dose intensification in HS patients. METHODS: A case series of adalimumab 80 mg/week subcutaneously (s.c.) compassionate use in patients with HS, who did not respond sufficiently or in primary responders with progressive response loss to the registered adalimumab dose of 40 mg/week s.c. Patients were collected and evaluated retrospectively. Patients' data were extracted from medical records. RESULTS: The 14 patients collected were Caucasian with HS of Hurley stage II-III and moderate or severe International HS Severity Score System (IHS4) stage. Adalimumab dose intensification significantly improved IHS4 score, Pain Index, HS-Physician Global Assessment, pain, and Cardiff Dermatology Life Quality Index. Two young female patients with HS and Crohn's disease developed psoriatic lesions during the treatment with adalimumab 80 mg/week s.c. CONCLUSION: An enhanced level of effectiveness was assessed in the majority of the HS patients treated with adalimumab dose intensification (80 mg/week s.c.). Larger studies are required to evaluate this observation.

Aims: This study aimed at gaining a deeper understanding of the environmental and socio-economic factors affecting participation outcomes in community and leisure activities for children with disabilities, as well as the trajectories of participation for these children to promote their health and guarantee their rights are respected.Methods: A participatory action research (PAR) approach and linear regression analysis were employed to identify contextual factors associated with the community participation of children with cerebral palsy (CP) living in Quebec, Canada. Stakeholders engaged through the entire research process supported the development of questionnaires, data collection, analysis and interpretation of results.Results: Neighborhood outings were ranked among the most practiced activities by children with CP. Only in a few cases (9%) did children participate in more than two types of activities outside of school. Factors limiting children’s participation were predominantly extrinsic in origin, including financial burden and lack of information about existing opportunities.Conclusions: There is a serious need for communities and local governments to inform parents about available resources, programs and policies that can support their child’s participation. Rehabilitation professionals could partner with stakeholders to inform the development of public policies that target the identified barriers and promote children’s integration and fulfillment.

The geographic distribution of the Greenland Shark (Somniosus microcephalus) extends from the Arctic Ocean to the North Atlantic Ocean. However, little is known about the habitat of this species, as it is generally found at great depths or in the High Arctic. In the St. Lawrence Estuary, Greenland Sharks undertake diel vertical movements into shallow water (≤ 30 m), but the reasons for these movements are unknown. To test the hypothesis that environmental variables drive the movements of this shark in the St. Lawrence Estuary, eight Greenland Sharks were tagged with acoustic telemetry transmitters during the summer of 2005. Three environmental factors, temperature, light, and tides, were associated with their movements. Movement patterns indicate a preference for deep, cold water during daylight hours and shallow, warmer water during the night. Ascending into shallow water mostly coincided with darkness and high tide. This improved understanding of the spatio-temporal distributionof the Greenland Shark will allow for assessment of the risk to these sharks from commercial fisheries, as occurs in the Greenland Halibut (Reinhardtius hippoglossoides) longline fishery. In addition, temperature-driven behavioural patterns may change as the thermal structure of the water column shifts due to global warming.

Since the appearance of Generalized Anxiety Disorder (GAD) in the 1980 version of the Diagnostic and Statistical Manual of Mental Disorders (DSM), the definition and the comprehension of this disorder have largely evolved. The present article is an overview of the principal aspects of GAD in the literature such as the history, the prevalence, the socioeconomic characteristics, the comorbidity, the differential diagnosis and its evolution, while considering the litigious questions concerning its classification. This article also presents a report of the recent studies about the cognitive profile of patients, from a perspective of cognitive experimental psychology and neuropsychology. The consequences on cognitive functioning are discussed in the second part of the article, as well as precautions relatively to functioning clinicians have to consider.

Dans son editorial intitule « Prescrire le bonheur » et publie dans le numero de septembre du Medecin de famille canadien , le Dr Roger Ladouceur, redacteur scientifique adjoint, vous invitait a nous faire part de « conseils judicieux a l’intention de vos patients malheureux pour qu’

Qui trop embrasse mal étreint : les arts éphémères noyés dans le patrimoine immatériel / Bernard Genest et Camille Lapointe, Le Patrimoine culturel immatériel. Un capital social et économique, Québec, Gouvernement du Québec, Culture et Communications, 2004, 77 p. ISBN 2-550-42524-3. An article from journal Rabaska (Volume 3, 2005, pp. 7-232), on Érudit.

Introduction Trapeziometacarpal osteoarthritis (TMO) is among the most prevalent forms of upper extremity osteoarthritis. It is frequently associated with significant levels of pain and disability, particularly among ageing women. The typical care pathway for TMO relies on non-surgical approaches for up to 2 years, before surgery is considered. One of the most common non-surgical approaches is an intra-articular cortisone injection. However, these are not universally recommended due to their safety profile and unclear efficacy compared with saline injections. Recent evidence suggests that saline might be non-inferior to cortisone, but this remains to be clarified. This pilot trial aims to assess the feasibility of a trial examining the non-inferiority of saline compared with cortisone injections for TMO. Methods and analysis This trial will recruit 40 adults with a diagnosis of TMO and a prescription for a cortisone injection from the Centre hospitalier de l’Université de Montréal (CHUM), Canada. Participants will be randomised to receive either an intra-articular injection of 0.9% sodium chloride (experimental arm, n=20) or triamcinolone acetonide (standard of care, n=20) under fluoroscopic guidance at the Radiology Department or under ultrasound guidance at the Physiatry Clinic. Opaque syringes will be used to blind participants and physicians. Feasibility outcomes, collected at all time points, will include recruitment rates, follow-up completion rates and blinding indices. Preliminary efficacy outcomes, collected at baseline and at 1 day, 1 month, 3 months and 6 months post-injection, will include pain intensity (0–10 scales), hand function (QuickDASH 11-items), cumulative analgesic consumption scores, concurrent interventions, adverse events and number of participants receiving a second injection or an arthroplasty. Descriptive statistics will be used to present feasibility outcomes. Preliminary data on the effectiveness of saline and cortisone injections will inform the design of a large-scale study for formal hypothesis testing. Ethics and dissemination The trial was approved by the CHUM Human Research Ethics Board (2025-11815). The research output will be presented at conferences and published in a peer-reviewed journal. Trial registration number NCT06401317 .