Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.

Introduction: The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers Danlos syndrome (vEDS) and other sHTADs, critically appraise and synthesize the relevant literature. We also aimed to investigate how adults with sHTAD experience and perceive fatigue, and to discuss clinical implications and direction for further research.

Methods: First, a systematic review was performed by searching the published literature in all relevant databases and other sources until 20th October 2022.

Work participation in adults with rare genetic diseases - a scoping review.

Background: Work participation is a crucial aspect of health outcome and an important part of life for most people with rare genetic diseases. Despite that work participation is a social determinant of health and seems necessary for understanding health behaviours and quality of life, it is an under-researched and under-recognized aspect in many rare diseases. The objectives of this study was to map and describe existing research on work participation, identify research gaps, and point to research agendas in a selection of rare genetic diseases.

Education and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome in Norway, a questionnaire based study.

Objectives: To describe education level and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, and explore factors related to work participation.

Materials And Methods: Cross-sectional postal survey in 2018. Individuals with molecularly verified diagnosis were recruited through a National Resource Centre for Rare Disorders.

Pain and fatigue in adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, a questionnaire-based study.

The purpose was to study self-reported chronic pain and fatigue symptoms among adults with molecularly verified Loeys-Dietz and vascular Ehlers-Danlos syndrome using a cross-sectional questionnaire design. Seventy adults were invited through a National Resource Centre for Rare Disorders. A study specific questionnaire including Brief Pain Inventory, Standardized Nordic Questionnaire, Fatigue Severity Scale, Hospital Anxiety & Depression Scale, questions on physical activity, and disease burden was used.

The seventh survey of the Tromsø Study (Tromsø7) 2015-2016: study design, data collection, attendance, and prevalence of risk factors and disease in a multipurpose population-based health survey.

Aims: The Tromsø Study is an ongoing population-based health study in Tromsø, Norway, initiated in 1974. The purpose of the seventh survey (Tromsø7) 2015-2016 was to advance the population risk factor surveillance and to collect new types of data. We present the study design, data collection, attendance, and prevalence of risk factors and disease.

Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research.

Background: Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in children and adults with rare diseases is needed. The purpose of this review was to map and describe characteristics of existing research on experienced fatigue in a selection of rare diseases in rare developmental defects or anomalies during embryogenesis and rare genetic diseases.

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.

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.

A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome.

Aim: The present study aimed to map and summarise the research on children, aged 0-18 years, with Marfan syndrome, identify research gaps and point to research agendas.

Methods: A scoping review was systematically performed by searching multiple databases from January 1996 to April 2019. Primary studies presenting results on at least six individuals aged 0-18 years with Marfan syndrome, diagnosed according to the Ghent nosology, were selected.

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.

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.

Sodium and Potassium Intake Assessed by Spot and 24-h Urine in the Population-Based Tromsø Study 2015-2016.

Reduction of salt intake is a public health priority and necessitates the surveillance of salt intake in the population. The validity of salt intake assessed by dietary surveys is generally low. We, therefore, aimed to estimate salt intake by 24-h urine collection and to assess the usefulness of spot urine collection for surveillance purposes.

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).

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.

Know Your Heart: Rationale, design and conduct of a cross-sectional study of cardiovascular structure, function and risk factors in 4500 men and women aged 35-69 years from two Russian cities, 2015-18.

Russia has one of the highest rates of cardiovascular disease in the world. The International Project on Cardiovascular Disease in Russia (IPCDR) was set up to understand the reasons for this. A substantial component of this study was the Know Your Heart Study devoted to characterising the nature and causes of cardiovascular disease in Russia by conducting large cross-sectional surveys in two Russian cities Novosibirsk and Arkhangelsk.

Education and work participation among adults with congenital unilateral upper limb deficiency in Norway: A cross-sectional study.

Objectives: To describe level of education and work participation among adults with congenital unilateral upper limb deficiency (CUULD) in Norway and to explore associations between work participation and demographic and clinical factors.

Methods: Cross-sectional study. In 2012, a postal questionnaire was sent to 186 persons with congenital limb deficiency (CLD), age ≥ 20 years, registered at the TRS National Resource Center for Rare Disorders.

Chronic pain and fatigue in adults with congenital unilateral upper limb deficiency in Norway. A cross-sectional study.

Purpose: To describe Norwegian adults with congenital unilateral upper limb deficiency (CUULD) regarding self-reported chronic pain (intensity, locations, impact on daily life) and fatigue. Analyze associations between chronic pain and demographic/clinical factors and associations between fatigue and demographic/ clinical factors.

Materials And Methods: Cross-sectional study.

Health-related quality of life in adults with congenital unilateral upper limb deficiency in Norway. A cross-sectional study.

Purpose: To examine subjective health-related quality of life (HRQoL) in adults with congenital unilateral upper limb deficiency (UULD) in Norway and to explore the associations between demographic and clinical factors and HRQoL.

Method: Cross-sectional study comparing HRQoL, measured by SF-36, among adults with UULD and an age- and gender-matched control group from the Norwegian general population (NGP).

Results: Seventy-seven respondents, median age 42 years (range: 20-82); 71% were women.

Children with congenital limb deficiency in Norway: issues related to school life and health-related quality of life. A cross-sectional study.

Purpose: To describe clinical features, issues related to school life and health-related quality of life (HRQOL) for children with congenital limb deficiency (CLD) and compare these children to Norwegian school children on HRQOL.

Method: Cross-sectional study. In 2010, a postal questionnaire, designed for this study and the Paediatric Quality of Life Inventory (PedsQL), was sent to 154 eligible parents of children with CLD, aged 6-18 years and registered at TRS National Resource Centre for Rare Disorders in Norway.

Adults with congenital limb deficiency in Norway: demographic and clinical features, pain and the use of health care and welfare services. A cross-sectional study.

Purpose: To describe an adult population with congenital limb deficiency (CLD) recruited through the National Resource Centre for Rare Disorders (TRS) in Norway: (1) demographic factors, (2) clinical features, (3) pain and (4) use of health care and welfare services.

Methods: Cross-sectional study. In 2012, a postal questionnaire was sent to 186 eligible persons with CLD, age 20 years and older.

Health-related quality of life for children with rare diagnoses, their parents' satisfaction with life and the association between the two.

Purpose: To examine children's health-related quality of life and parents' satisfaction with life and explore the association between the two in families where a child has a rare disorder.

Methods: We used a cross-sectional study design. A questionnaire was sent to parents of 439 school children (6-18 years) with congenital rare disorders.

Health-related quality of life in Marfan syndrome: a cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis.

Purpose: To explore health-related quality of life as measured with Short Form 36 in adults with verified Marfan syndrome and to compare with the general population, other groups with chronic problems and studies on Marfan syndrome. Furthermore, to study potential correlations between the scores on the subscales of Short Form 36 and the presence of biomedical criteria and symptoms of Marfan syndrome.

Method: Cross-sectional study.

Health status of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis).

Background: To examine the subjective health status of adults with short stature (ShSt) and compare with the general population (GP) and one well-known chronic disease, rheumatoid arthritis (RA). In addition, to explore the association between age, gender, height, educational level and different aspects of health status of adults with short stature.

Methods: A questionnaire was mailed to 72 subjects with short stature registered in the database of a Norwegian resource centre for rare disorders, response rate 61% (n = 44, age 16-61).

Subtype-specific sorting of the ETA endothelin receptor by a novel endocytic recycling signal for G protein-coupled receptors.

We have previously reported that endocytic sorting of ET(A) endothelin receptors to the recycling pathway is dependent on a signal residing in the cytoplasmic carboxyl-terminal region. The aim of the present work was to characterize the carboxyl-terminal recycling motif of the ET(A) receptor. Assay of truncation mutants of the ET(A) receptor with increasing deletions of the carboxyl-terminal tail revealed that amino acids 390 to 406 contained information critical for the ability of the receptor to recycle.