Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction.

Objective: To explore life satisfaction among adults with Loeys-Dietz and those with vascular Ehlers-Danlos syndrome.

Design: Postal survey in 2018.

Participants And Methods: Persons with molecularly verified Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome were recruited through the National Resource Centre for Rare Disorders in Norway.

Self-reported cognitive impairment in cervical cancer survivors: A cross-sectional study.

Objective: Cancer-related cognitive impairment (CRCI) is a major obstacle for cervical cancer survivors, preventing the return to their social life. This study assessed the prevalence of CRCI in cervical cancer survivors and studied the association of self-reported cognitive impairment with treatment regimen and the quality of life (QoL) domains depression, anxiety, and fatigue.

Methods: Six hundred twenty one cervical cancer survivors, treated with combined chemo-radiotherapy (CCRT) (n = 458) or surgery only (n = 163) were invited in this cross-sectional study.

The first European consensus on principles of management for achondroplasia.

Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant unmet needs associated with achondroplasia and substantial differences in different countries with regard to delivery of care.

Healthcare workers' perceptions and experiences of communicating with people over 50 years of age about vaccination: a qualitative evidence synthesis.

Background: Infectious diseases are a major cause of illness and death among older adults. Vaccines can prevent infectious diseases, including against seasonal influenza, pneumococcal diseases, herpes zoster and COVID-19. However, the uptake of vaccination among older adults varies across settings and groups.

Photophobia and disability glare in adult patients with Marfan syndrome: a case-control study.

Purpose: The aim of the present study was to investigate photophobia and disability glare in adult patients with Marfan syndrome (MFS).

Methods: In this case-control study, 44 patients with MFS (87 eyes) were compared to 44 controls (88 eyes), who were matched for age and sex. The subjects were asked to grade their photophobia and glare using 10-cm visual analogue scales (VAS), which were marked with 'never' at zero and 'always' at 10 -cm.

Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study.

Background: Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking.

Objectives: This population-based, cross-sectional study investigated the prevalence, severity, and predictive factors of OSA in Norwegian adults with achondroplasia.

Methods: We collected clinical data on 49 participants.

Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.

An amendment to this paper has been published and can be accessed via the original article.

Health-related quality of life in Marfan syndrome: a 10-year follow-up.

Background: Marfan syndrome, a rare hereditary connective tissue disorder caused by mutations in fibrillin-1, can affect many organ systems, especially the cardiovascular system. Previous research has paid less attention to health-related quality of life and prospective studies on this topic are needed. The aim of this study was to assess changes in health-related quality of life after 10 years in a Norwegian Marfan syndrome cohort.

Cardiovascular risk factors and body composition in adults with achondroplasia.

Purpose: An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study investigated cardiovascular risk factors and body composition in Norwegian adults with achondroplasia.

Methods: We conducted anthropometric, clinical, and laboratory assessments in 49 participants with achondroplasia, of whom 40 completed magnetic resonance imaging (MRI) for body composition analysis.

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity.

Purpose: To study patient experiences with physical activity among persons with Loeys-Dietz- or vascular Ehlers-Danlos syndrome.

Materials And Methods: A postal questionnaire survey in 2018. Seventy adults with molecularly verified Loeys-Dietz syndrome types 1-4, or vascular Ehlers-Danlos syndrome recruited through a National Resource Centre for Rare Disorders in Norway.

Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway.

Background: International guidelines recommend hereditary thoracic aortic diseases (HTADs) to be managed in multidisciplinary aorta clinics.

Aim: To study HTAD patient's experiences with a aortopathy clinic in Norway and to review the literature on aortopathy clinics.

Methods: (a) A systematic scoping review of research on multidisciplinary clinics for HTADs.

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.

Background: Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-based studies exist currently.

The feasibility and acceptability of goal management training of executive functions in children with spina bifida and acquired brain injury.

Executive dysfunction causes significant real-life disability for children with spina bifida (SB) and acquired brain injury (ABI), and efficient interventions are needed. Goal Management Training (GMT) is a cognitive rehabilitation intervention for improving executive function (EF) that has received empirical support in studies of adults with SB and ABI. The purpose of this study was to determine the feasibility and acceptability of a newly developed pediatric GMT protocol (pGMT).

Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives.

Purpose: To improve the knowledge about physical exercise in patients with Hereditable Thoracic Aortic Disease, insight to the patient perspectives is necessary. The aim of this study was to explore aspects related to physical exercise as highlighted by the patients themselves.

Methods: Focus group interviews with 36 people with Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers Danlos syndrome were conducted.

Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.

: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology.

Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study.

The age-dependent penetrance of organ manifestations in Marfan syndrome (MFS) is not known. The aims of this follow-up study were to explore how clinical features change over a 10-year period in the same Norwegian MFS cohort. In 2003-2004, we investigated 105 adults for all manifestations in the 1996 Ghent nosology.

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of health burden perspectives.

The aim is to study adults with vascular Ehlers-Danlos syndrome (vEDS) and Loeys-Dietz syndrome (LDS) with regard to sociodemographic characteristics, perceived vascular- and multi-organ symptom burdens, and health services utilization. This is a cross-sectional study. In 2018, a postal questionnaire was sent to 71 individuals with genetically verified LDS types 1-4 or vEDS, age ≥ 18 years, recruited through a National Resource Centre for Rare Disorders in Norway.

Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia.

Individuals with achondroplasia have a high prevalence of obesity and increased risk of cardiovascular disease. Fat distribution, diet, and caloric intake are known risk factors, but the literature concerning diet and energy balance in achondroplasia is limited. The main aim of this study was to describe the anthropometrics, diet, and resting energy expenditure (REE) in a Norwegian adult achondroplasia population.

Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study.

Background Context: Dural ectasia is widening of the dural sac often seen in patients with Marfan syndrome and other hereditary connective tissue disorders. Dural ectasia can cause specific symptoms and is associated with surgical complications. The knowledge on how and at which age dural ectasia develops is incomplete.

Ethical sensitivity in co-production: Openness and doubt when young women participate in research.

During the past years, co-production in medical and health related research has gained more focus. The purpose is to ensure that researchers - and the individuals that the research is relevant and has consequences for - will develop and produce the research, and accordingly also, the results together. In our understanding, the eventual success of co-production in research has to be based on some sort of sensitivity to and negotiation as to the perspectives and categories describing the research theme.

Current knowledge of medical complications in adults with achondroplasia: A scoping review.

This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews).

Fatigue and pain in children and adults with multiple osteochondromas in Norway, a cross-sectional study.

Background: Multiple Osteochondromas (MO) is a rare skeletal disorder frequently needing orthopaedic surgery. High prevalence of pain has been reported, however fatigue has not previously been investigated.

Purpose: Our aims were to investigate prevalence of fatigue and pain in Norwegian children and adults with MO.

Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses.

The purpose of this study was to explore the literature on quality of life (QoL) in patients with hereditary thoracic aortic aneurysm and dissection (HTAAD); including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers-Danlos syndrome (vEDS) and other HTAAD diagnoses, critically appraising and synthesizing the relevant literature. A systematic review was performed by searching the published literature using available medical, physical, psychological, social databases and other sources. Studies addressing QoL in persons with an HTAAD diagnosis, published in peer-reviewed journals were assessed.