Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we identify nine additional subjects, from seven unrelated families, harbouring different homozygous loss-of-function variants in ABCC9 and presenting with a conserved ...

Introduction - Team-based learning (TBL) is a well-established active teaching method which has been shown to have pedagogical advantages in some areas such as business education and preclinical disciplines in undergraduate medical education. Increasingly, it has been adapted to clinical disciplines. However, its superiority over conventional learning methods used in clinical years of medical school ...

Frontotemporal dementia (FTD) is associated with progressive degeneration of the frontal lobes and this leads to changes in language, motor symptoms, behavior and executive functions.1 In an early stage, patients with FTD usually have intact memory functions.2 40% of the cases of FTD are misdiagnosed,3 with delayed diagnosis compared to other dementias.4 Differentiating FTD from other psychiatric ...

Background Team-based learning (TBL) is a widely recognized instructional approach in medical education blending direct instruction with active-cooperative learning in small groups. While TBL is known to enhance knowledge acquisition, its impact on student motivation, particularly through situational interest, remains underexplored. This study aimed to investigate the development of situational ...

Genetic repeat expansions cause neuronal degeneration in amyotrophic lateral sclerosis as well as other neurodegenerative disorders such as spinocerebellar ataxia, Huntington’s disease and Kennedy’s disease. Repeat expansions in the same gene can cause multiple clinical phenotypes. We aimed to characterize repeat expansions in a Norwegian amyotrophic lateral sclerosis cohort. Norwegian amyotrophic ...

<p><i>Background - </i>This study aimed to examine the association between user satisfaction and clinical outcomes with child and adolescent mental health services (CAMHS) from the perspective of young people and their parents. The evidence bases for CAMHS user satisfaction measures are limited, with few studies investigating the link between user satisfaction and clinical outcomes. In particular, ...

Objective: Both chronic hepatitis C virus (HCV) infection and opioids cause altered blood levels of cytokines. Previous studies have investigated levels of selected groups of cytokines in patients on opioid maintenance treatment. Little is known about the levels of multiple cytokines in patients with chronic HCV infection on opioid maintenance treatment. Our aim was to investigate the cytokine profile ...

Objectives - The main objective of this study was to investigate the characteristics of patients receiving private community physiotherapy (PT) the first year after a hip fracture. Second, to determine whether utilisation of PT could improve health-related quality of life (HRQoL).<p> <p>Methods - In an observational cohort study, 30 752 hip fractures from the Norwegian Hip Fracture Register were ...

Aim: Current guidelines for cardiopulmonary resuscitation (CPR) recommend a one-size-fits-all approach in relation to the positioning of chest compressions. We recently developed RescueDoppler, a hands-free Doppler ultrasound device for continuous monitoring of carotid blood flow velocity during CPR. The aim of the present study is to investigate whether RescueDoppler via real-time hemodynamic ...

This workshop summary on natural language processing (NLP) markers for psychosis and other psychiatric disorders presents some of the clinical and research issues that NLP markers might address and some of the activities needed to move in that direction. We propose that the optimal development of NLP markers would occur in the context of research efforts to map out the underlying mechanisms of ...