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Background: TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the long-term outcome in this disorder. Results: We here present three novel patients with TMEM199-CDG. All three patients carried the same set of mutations (c.13-1
Long-term oxygen therapy (LTOT) improves prognosis in patients with COPD and chronic severe hypoxemia. The efficacy in moderate hypoxemia (tension of arterial oxygen; on air, 7.4−8.0 kPa) was questioned by a recent large trial. We reviewed the evidence to date (five randomized trials; 1,191 participants, all with COPD). Based on the current evidence, the survival time may be improved in patients w
Purpose: To assess retinal function in combination with the retinal structure in ABCA4-associated retinal degenerations. Moreover, to evaluate the possibility of predicting the natural course of these disorders. Methods: 34 patients with Stargardt disease or cone rod dystrophy carrying confirmed mutations in ABCA4 were selected from our retinitis pigmentosa (RP) register. Sequence analysis of the
Objective: Measurement of fetal scalp blood lactate is a supplementary tool to cardiotocography in the case of a non-reassuring tracing. Several hand-held lactate meters have been launched, all with differentials in absolute values. Therefore, the reference intervals must be calculated for each device. The internationally accepted reference interval is based on measurement with Lactate ProTM with
Different lead misplacements may present with typical ECG changes, which may influence the management of the patient, if not identified and corrected. It is important, both for the ECG technician and for the interpreting physician, to recognize typical patterns of lead misplacement to avoid misinterpretation of the ECG.
Acute myocardial infarction (AMI) is a disease associated with high morbidity and mortality. Currently there are no available treatments specifically targeting the post-ischemic myocardial processes that lead to heart failure and recurrent coronary events. The innate immune system plays a central role in the two consecutive phases that follow an acute ischemic event: the inflammatory phase and the
The Wilms' tumour gene 1 protein (WT1) is a zinc finger transcription factor found indispensable for foetal development. WT1 has also been implicated in the development of tumours in several organ systems, including acute myeloid leukaemia (AML). Four main WT1 isoforms come from 2 alternative splice events. One alternative splice results in the inclusion or exclusion of 3 amino acids, KTS, between
Background Preoperative interventions have increased the resectability of colorectal cancer (CRC) liver metastases. This retrospective study compares outcomes after liver resection for bilobar CRC metastases between patients who underwent parenchyma-sparing hepatectomy (PSH), i.e., segmentectomies and smaller resections on both lobes, and those treated with non-PSH, i.e., hemihepatectomy plus any
Pancreatic cancer is known for its propensity to metastasize. Recent studies have challenged the commonly held belief that pancreatic cancer is a stepwise process, where tumor cells disseminate late in primary tumor development. Instead it has been suggested that pancreatic tumor cells may disseminate early and develop independently and in parallel to the primary tumor. Circulating tumor cells can
Aim: To identify the prevalence of knee contracture and its association with gross motor function, age, sex, spasticity, and muscle length in children with cerebral palsy (CP). Method: Cross-sectional data for passive knee extension were analysed in 3 045 children with CP (1 756 males, 1 289 females; mean age 8y 1mo [SD 3.84]). CP was classified using the Gross Motor Function Classification System
Objective: To describe stroke survivors' experiences of sensory impairment in the upper limb, the influence of such impairment on daily life, coping strategies used, and sensory training for the affected hand. Design: A qualitative study with a content analysis approach. Subjects: Fifteen post-stroke patients interviewed individually. Results: Five categories emerged from the data: "Changed and va
The role of CD4+ T cells in atherosclerosis has been shown to be dependent on cytokine cues that regulate lineage commitment into mature T helper sub-sets. In this study, we tested the roles of IL-1R1 and MyD88 signalling in CD4+ T cells in atherosclerosis. Methods and results We transferred apoe-/-myd88\+/\+ or apoe-/-myd88-/- CD4+ T cells to T-A nd B-cell-deficient rag1-/-apoe-/- mice fed high f
Objectives: To review the cumulative prevalence, operative management, and complications of treatment for cryptorchidism in Sweden. Study design: A nationwide observational study from longitudinal register data of all Swedish-born boys 0-18 years of age, diagnosed with cryptorchidism from 2001 to 2014. Primary outcomes were occurrence and age at primary surgery. Secondary outcomes included type of
The aim of this study is to understand how a new nationwide nonprofit organization, Victim Support Sweden (VSS), emerged in just a few years without public or political demand. In this qualitative study, we reconstruct and follow the first years of the organization. The study is based on a content analysis of VSS’s archival documents from 1988 to 1992 and retrospective interviews with key persons.
This paper explores how Computer-Supported Collaborative Learning (CSCL) can globalize a criminal justice curriculum. It draws on a project where criminology students in Sweden and the United States collaborated in an online environment. We describe the design of the project and use student reflections to identify successes and challenges. The results show that for a CSCL to be successful, instruc
Presentation on the site-specificity of street art.
Keynote presentation based on the book "Street Art and the Environment" (2018).Keynote presentation based on the book "Street Art and the Environment" (2018).
