SIHF Vitenarkiv
Not a member yet
590 research outputs found
Sort by
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Full text linkLoss-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 range of clinical features. All variants are predicted to result in severe truncations or in-frame deletions within SUR2, leading to the generation of non-functional SUR2-dependent KATP channels. Affected individuals show psychomotor delay and intellectual disability of variable severity, microcephaly, corpus callosum and white matter abnormalities, seizures, spasticity, short stature, muscle fatigability and weakness. Heterozygous parents do not show any conserved clinical pathology but report multiple incidences of intra-uterine fetal death, which were also observed in an eighth family included in this study. In vivo studies of abcc9 loss-of-function in zebrafish revealed an exacerbated motor response to pentylenetetrazole, a pro-convulsive drug, consistent with impaired neurodevelopment associated with an increased seizure susceptibility. Our findings define an ABCC9 loss-of-function-related phenotype, expanding the genotypic and phenotypic spectrum of AIMS and reveal novel human pathologies arising from KATP channel dysfunction.publishedVersio
Postoperative complications after surgery for lumbar spinal stenosis, assessment using two different data sources
Full text linkPurpose: Lumbar spinal stenosis (LSS) is a prevalent disorder, and surgery for LSS is a common procedure. Postoperative complications occur after any surgery and impose costs for society and costs and additional morbidity for patients. Since complications are relatively rare, medical registries of large populations may provide valuable knowledge. However, recording of complications in registries can be incomplete. To better estimate the true prevalence of complications after LSS surgery, we reviewed two different sources of data and recorded complications for a sample of Norwegian LSS patients. Methods: 474 patients treated surgically for LSS during 2015 and 2016 at four hospitals reported to a national spine registry (NORspine). Postoperative complications were recorded by patients in NORspine, and we cross-referenced complications documented in NORspine with the patients´ electronic patient records (EPR) to re-test the complication rates. We performed descriptive statistics of complication rates using the two different data sources above, and analyzed the association between postoperative complications and clinical outcome with logistic regression. Results: The mean (95%CI) patient age was 66.3 (65.3-67.2) years, and 254 (53.6%) were females. All patients were treated with decompression, and 51 (10.7%) received an additional fusion during the index surgery. Combining the two data sources, we found a total rate for postoperative complications of 22.4%, the NORspine registry reported a complication rate of 15.6%, and the EPR review resulted in a complication rate of 16.0%. However, the types of complications were inconsistent across the two data sources. According to NORspine, the frequency of reoperation within 90 days was 0.9% and according to EPR 3.4%. The rates of wound infection were for NORspine 3.1% and EPR review 2.1%. There was no association between postoperative complication and patient reported outcome. Conclusion: Postoperative complications occurred in 22% of LSS patients. The frequency of different postoperative complications differed between the two data sources.Open access funding provided by Akershus University Hospital (AHUS). No funding was received for this research.publishedVersio
Robotic Pauli repair of parastomal hernia
Full text linkBackground: Robotic retro-muscular mesh repair of parastomal hernia (PH) is possible with transversus abdominis release. The aim of this study is to report mid-term results with this method. Methods: Patients who underwent surgery for PH were enrolled in a prospective study. Patients with concomitant midline hernia also underwent Rives repair. Polypropylene meshes with an absorbable buffer mesh were used in the retro-muscular pocket-except PTFE was chosen for inflammatory bowel disease patients. Follow-up was by telephone and physical examination and CT if suspicion of complication. Results: Of the 56 included ostomy patients, 44 had colostomies, 10 had ileostomies, and two had urostomies. Thirty-nine percent had a concomitant hernia, and 25% had recurrent PH. The mean operating time without accessory repair was 156 min (SD 37), and with accessory repairs 220 min (SD 62). One bowel lesion and one vascular injury to the stoma occurred, prompting intraoperative stoma revision without postoperative morbidity. Postoperative complications ensued in 12 patients (23%). One patient had stoma necrosis after 3 weeks and the stoma was relocated. One patient had a mesh infection, 3 patients temporary ileus, one patient hypovolemic renal failure, and two patients experienced a flare-up of their Crohn's Disease. One parastomal abscess was drained percutaneously. The median postoperative stay was 3 days (1-21; mean 3.7 days), and the readmission rate was 8.9%. The recurrence rate at mean and median 24 months follow-up is 5.4%, two in ileostomy patients and one colostomy patient with unaltered bulging where CT shows a relatively large prolapse and recorded as a failure. Conclusion: Robotic Pauli repair has shown promising results. However, repair fails of PH at small bowel ostomies with short mesentery. ePauli/TAR is now the preliminary choice for eligible patients at our site. Comparative studies with the intraperitoneal mesh standard are needed.acceptedVersio
Editorial: Clinical implementation of the DSM-5 cultural formulation interview
Full text linkpublishedVersio
Individualized goals expressed by patients undergoing stroke rehabilitation: an observational study
Full text linkObjectives: To explore the rehabilitation goals measured with the Patient-Specific Functional Scale (PSFS) in patients undergoing acute and subacute stroke rehabilitation. In addition, to assess whether PSFS goals corresponded to impairments and activity limitations, as identified by standardized measures. Design: Observational study. Participants: A total of 71 participants undergoing inpatient stroke rehabilitation. Methods: The PSFS goals were linked to second-level categories in the International Classification of Functioning, Disability and Health (ICF), using established linking rules. Frequencies of the linked ICF categories were calculated. Frequencies of participants with limitations in walking, activities of daily living (ADL), vision, language, and cognition, were calculated, along with goals in corresponding areas of functioning. Results: The participants' goals were linked to 50 second-level ICF categories, comprising areas such as walking and moving, ADL, language, vision, and cognition. The most frequent ICF categories were "Moving around in different locations" (n = 24), "Walking" (n = 23), "Toileting" (n = 16), "Hand and arm use (n = 12) and "Fine hand use (n = 12)". Of participants with limitations in walking, cognition, and vision, 85%, 10%, and 16%, respectively, had goals in these areas. Conclusion: Participants' goals included walking, ADL, language, vision, and cognition. Few with impairments in cognition or vision had goals in these corresponding areas on the PSFS.Individualized goals expressed by patients undergoing stroke rehabilitation: an observational studypublishedVersio
A qualitative analysis of the documentation of DSM-5 Cultural Formulation Interviews with non-native speaking patients in a Swedish mental health care setting
Full text linkIntroduction: Cultural variety in expressed symptom presentations of mental health problems creates difficulties in transcultural diagnostic assessments. This emphasizes the need of culturally sensitive diagnostic tools like the Cultural Formulation Interview (CFI). Although the CFI is being implemented worldwide there is a lack of studies analyzing what kind of information it provides when used with new patients in routine psychiatric assessments, and how CFI information contributes to diagnostic evaluations. This study aimed to find out what information the CFI questions revealed when used with non-native Swedish speaking patients. We also wanted to understand how the CFI may facilitate identification of psychiatric diagnoses among these patients. Materials and methods: The CFI was used as part of a routine clinical psychiatric assessment in an outpatient clinic in Sweden. Interpreters were used in the consultations when needed. A qualitative thematic analysis was used to analyze the documented CFI answers from non-native speaking patients. Results: We found that the CFI information contained contextualized descriptions of dysfunction and current life conditions, as well as expressions of emotions, often described along with somatic terms. Discussion: Our results indicate that the narrative approach of the CFI, giving contextualized information about distress and functioning, can facilitate clinicians’ identification of psychiatric symptoms when language, psychiatric terms and understandings are not shared between patient and clinician.publishedVersio
Prevalence and Determinants of Diagnosed Dementia: A Registry Linkage Study Linking Diagnosis of Dementia in the Population-Based HUNT Study to Registry Diagnosis of Dementia in Primary Care and Hospitals in Norway
Full text linkBackground: A timely diagnosis of dementia can be beneficial for providing good support, treatment, and care, but the diagnostic rate remains unknown and is probably low. Objective: To determine the dementia diagnostic rate and to describe factors associated with diagnosed dementia. Methods: This registry linkage study linked information on research-based study diagnoses of all-cause dementia and subtypes of dementias, Alzheimer's disease, and related dementias, in 1,525 participants from a cross-sectional population-based study (HUNT4 70+) to dementia registry diagnoses in both primary-care and hospital registries. Factors associated with dementia were analyzed with multiple logistic regression. Results: Among those with research-based dementia study diagnoses in HUNT4 70+, 35.6% had a dementia registry diagnosis in the health registries. The diagnostic rate in registry diagnoses was 19.8% among home-dwellers and 66.0% among nursing home residents. Of those with a study diagnosis of Alzheimer's disease, 35.8% (95% confidence interval (CI) 32.6-39.0) had a registry diagnosis; for those with a study diagnosis of vascular dementia, the rate was 25.8% (95% CI 19.2-33.3) and for Lewy body dementias and frontotemporal dementia, the diagnosis rate was 63.0% (95% CI 48.7-75.7) and 60.0% (95% CI 43.3-75.1), respectively. Factors associated with having a registry diagnosis included dementia in the family, not being in the youngest or oldest age group, higher education, more severe cognitive decline, and greater need for help with activities of daily living. Conclusions: Undiagnosed dementia is common, as only one-third of those with dementia are diagnosed. Diagnoses appear to be made at a late stage of dementia.Prevalence and Determinants of Diagnosed Dementia: A Registry Linkage Study Linking Diagnosis of Dementia in the Population-Based HUNT Study to Registry Diagnosis of Dementia in Primary Care and Hospitals in NorwayThe study was financed by the Norwegian Health Association. There were no restrictions regarding the research conduct.publishedVersio
The Practical and Social Functioning (PSF) scale: development and measurement properties of an instrument for assessing activity and social participation among people with serious mental illness
Full text linkBackground: Participation in society and the ability to perform various activities are crucial aspects of everyday functioning. The intertwined relationship between functioning, disability, and health is emphasized in the "International Classification of Functioning, Disability and Health (ICF)" framework. In recent decades, mental health care units have increasingly focused on this aspect. The Practical and Social Functioning scale (PSF) was developed and validated in Norwegian as an easy-to-administer instrument to assess practical and social functioning among patients with serious mental illness in different clinical settings. Methods: The PSF was developed and revised using data from different Norwegian studies. Data from a total of 562 patients with serious mental illness in different clinical settings were included. The validation process included the evaluation of items into categories by 25 professionals. Development and revision took place in three different stages, and factor analyses were conducted. The quality of the PSF was assessed according to the COSMIN standards for systematic reviews on patient-reported outcome measures. Results: The final version of the PSF comprises seven subscales, each consisting of four items, resulting in a total of 28 items. These subscales, along with their corresponding items, are loaded onto two factors representing the main dimensions of functioning: activity and participation. Content validity comprises three domains: relevance, comprehensiveness, and comprehensibility. Relevance and comprehensibility were found to be adequate, whereas comprehensiveness was doubtful. Structural validity was adequate, internal consistency was very good, and construct validity was adequate compared to the Global Assessment of Functioning scale. Responsiveness was found to be doubtful in our study with data from an 18-month observation period. Nearly 60% of the items showed a ceiling effect. No items showed a floor effect. Conclusion: The development and validation of the Norwegian version of the PSF resulted in an instrument consisting of seven subscales and a total of 28 items. The items and subscales assess functioning related to two key factors according to the ICF framework: activity and participation. Our results show that the PSF is an easy-to-administer instrument that may be particularly sensitive for detecting variation among persons with severely impaired functioning.Open access funding provided by Akershus University Hospital (AHUS) The study at Nordfjord CMHC was funded partly by the Norwegian Council for Mental Health and partly by the CMHC. The Assertive Community Treatment study was funded by the Norwegian Directorate of Health. The study Committed Collaborative Treatment was funded by Akershus University Hospital. The study Implementation of National Guidelines was funded by the South-Eastern Norway Regional Health Authority
The relationship between the ages and stages questionnaire, 3rd edition scores in early childhood and future cognitive abilities in young Nepalese children
Full text linkBackground The Ages and Stages Questionnaire 3rd edition (ASQ-3) could be a feasible tool in resource-poor settings. Little is known on the relationship between scores on the ASQ-3 and later intellectual abilities in these settings. Aims To examine the relationship between ASQ-3 scores during the first and second year of life and intellectual abilities at 4 years of age in Nepalese children. Methods In a cohort of 600 children at-risk of stunting, the ASQ-3 was performed at 6–11 and 18–23 months, and the Wechsler Preschool and Primary Scales of Intelligence, fourth edition (WPPSI-IV) at 4 years. We examined the relationship between the ASQ-3 scores and WPPSI-IV full scale IQ (FSIQ) using Spearman correlation coefficients and linear regression models. Results Correlations between ASQ-3 total scores and FSIQ was 0.17 (95% CI 0.07, 0.27) at 6–11 and 0.34 (95% CI 0.26, 0.44) at 18–23 months explaining 2 and 12% of the variance respectively. Except for the communication subscale at 18–23 months with moderate correlations, correlations between the ASQ-3 subscales and FSIQ were weak. Conclusion Our findings suggest a modest relationship between ASQ-3 scores in early childhood and intellectual abilities at 4 years.Open access funding provided by University of Bergen. Thrasher Research Fund (award 11512), the GC Rieber foundation, the University of Bergen (UoB), and the Research Council of Norway through a grant to Centre for Intervention Science in Maternal and Child Health (CISMAC).publishedVersio
Histological Properties of Adipose Tissue as an Autologous Tissue Filler Harvested from Different Donor Areas and Impact of Centrifugation
Full text linkBackground: As a burgeoning technique in reconstructive and aesthetic surgery, lipofilling's success is hindered by the unpredictability of graft integrity and quality. This study addresses the critical need to enhance consistency and reproducibility by exploring the clinical utility of adipose tissue from specific body areas, considering the influence of patient-specific factors and mechanical processing on fat graft integrity and morphology. Methods: In a prospective, randomized, single-blind study, 52 patients undergoing surgical reconstruction due to significant deformities were enrolled. Lipoaspiration from four areas was performed. Adipose tissue was compared using five parameters of tissue damage and 10 parameters of graft integrity, assessed immediately postcollection and after centrifugation. The study aimed to evaluate the structural integrity and clinical applicability of adipocytes. Results: Morphological assessment revealed no significant differences in adipose tissue quality across donor sites, suggesting consistent graft quality regardless of the harvesting location. Centrifugation induced more morphological damage than noncentrifuged samples, but the overall graft integrity was maintained due to increased cell density. Higher graft acceptance parameters were noted in noncentrifuged samples compared with centrifuged ones. Conclusions: Despite centrifugation-induced morphological changes, adipose tissue integrity remains relatively unaffected, supporting a flexible approach to donor site selection. The consistent quality of adipose tissue underscores the potential for autologous fat transplantation across various clinical scenarios. Optimizing graft processing techniques is crucial for enhancing the predictability and efficacy of lipofilling. Copyright © 2024 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of The American Society of Plastic Surgeons.publishedVersio