M arfan syndrome (MFS) is an autosomal dominant connective tissue disorder, with variable pathologic features and symptoms from different organ systems. MFS is diagnosed on the basis of the Ghent criteria, 1 defining "involved organ systems" and "major criteria fulfilled." To be given the diagnosis, a person has to fulfill a major criterion in two different organ systems and have a third organ system involved. Approximately 30% of the cases are the first in their family to have MFS, interpreted as caused by new mutations.The impact of MFS on the individual patient may vary considerably both between families and within a family. As aortic disease may result in early death, some patients will have to cope with an impending life-threatening condition. Lens dislocation can give reduced visual acuity, and lens dislocation increases the risk for retinal detachment that can result in blindness. The consequences of dural ectasia are still unclear 2 ; orthostatic headache due to cerebrospinal hypotension has been found 3,4 ; problems with spinal and epidural anesthesia have been reported. 5 Skeletal abnormalities may include a long, slender body shape, chest deformities, scoliosis, and joint hypermobility and may result in a peculiar appearance that invites unwanted attention. Children with MFS often look older than their chronological age and are often treated in accordance with their appearance, rather than their actual age. Individuals with MFS have been bullied and stigmatized at school, in the local environment, and in their occupational life. 6 Moreover, persons with MFS often report musculoskeletal pain, fatigue, and reduced physical endurance. 7,8 In the clinic, persons with MFS usually report few, if any, physical limitations deriving from their cardiovascular system. On the other hand, physicians often advise abstinence from strenuous exercise and prescribe beta-blockers to reduce the aortic dP/dt, heart rate, blood pressure, and left ventricular afterload, with the intention to delay aortic dilatation and lower the risk of aortic dissection. Some patients undergo prophylactic elective graft operations for enlarged aortas. Through such measures, the median life expectancy of persons with MFS has been prolonged considerably. 9 To reduce the risk of aortic dissection, lens dislocation, and retinal detachment, the patients are advised not to participate in contact sports and to wear glasses during sports with small balls. It is our clinical experience that the advised restrictions have often resulted in passivity; a sedentary life with an increasing body size.Given the broad range of symptoms and characteristics among individuals with MFS, as mentioned earlier, one would expect a reduced health-related quality of life (HRQOL). Judging from the MFS literature, where the main focus is on aortic pathology, the severity of aortic disease could potentially be the most important predictor for the degree of reduction. There are, however, few studies of HRQOL in the literature on MFS. In a study of 174 adults with MFS, Pe...

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. The study population was 4542 men and women aged 35-69 years recruited from the general population. Fieldwork took place between 2015-18. There were two study components: 1) a baseline interview to collect information on socio-demographic characteristics and cardiovascular risk factors, usually conducted at home, and 2) a comprehensive health check at a primary care clinic which included detailed examination of the cardiovascular system. In this paper we describe in detail the rationale for, design and conduct of these studies.

PurposeTo 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.MethodsWe used a cross-sectional study design. A questionnaire was sent to parents of 439 school children (6–18 years) with congenital rare disorders. Children’s health-related quality of life (HRQOL) was examined by Pediatric Quality of Life InventoryTM 4.0 (PedsQL) Norwegian version. Satisfaction with life was examined by Satisfaction with Life Scale (SWLS).ResultsThe response rate was 48% (n = 209). The average age of the children was 12 years and 50% were girls. The parents scored their children with reduced physical, emotional, social and school functioning. The reductions were greatest in the physical area. Parents scored average to high on SWLS but significantly lower than the general Norwegian population. There was a positive association between parental SWLS and the children’s social functioning and school functioning.ConclusionChildren with congenital, rare disorders often require assistance from many parts of the public service system. Caring for their physical needs should not conflict with their educational and social needs. It is important that the children’s school-life is organized so that the diagnosis does not interfere with the children’s education and social life more than necessary.

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. Methods: All inhabitants in Tromsø municipality, Norway, aged 40 years and older ( N=32,591) were invited to a health screening including extensive questionnaires, face-to-face interviews, biological sampling (blood, urine, saliva, nasal/throat swabs, faeces), measurements (anthropometry, blood pressure, pulse, pulse oximetry) and clinical examinations (pain sensitivity, echocardiography, cognitive, physical, and lung function, accelerometer measurements, eye examinations, carotid ultrasound, electrocardiography, dual-energy X-ray absorptiometry, and heart, lung and carotid auscultation). New research areas in this round were dental and oral health examinations, collection of faecal samples for studies of normal bacterial flora and antibiotic resistance, and 24-hour urine samples for examination of sodium and iodine intakes. Results: Attendance was 65% ( N=21,083), and was higher in women, age group 50–79 years, previous attenders, and Norwegian-born individuals. Cardiovascular risk factor levels and prevalence of chronic obstructive lung disease decreased since the last survey, while the prevalence of obesity and diabetes increased. Conclusions: Attendance was stable from the sixth survey. Interaction with participants might be key to maintain participation. Favourable trends in risk factors continue, except for a continued increase in obesity. Both new data collection technology and traditional physical examinations will be crucial for the impact of future population studies.

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). The selection of studies was based on criteria predefined in a review protocol. Twenty-nine publications were included; 2 reviews, and 27 primary studies. Key information such as reference details, study characteristics, topics of interest, main findings and the study author's conclusion are presented in text and tables. Over the past decades, there has only been a slight increase in publications on adults with achondroplasia. The reported morbidity rates and prevalence of medical complications are often based on a few studies where the methodology and representativeness can be questioned. Studies on sleep-related disorders and pregnancy-related complications were lacking. Multicenter natural history studies have recently been initiated. Future studies should report in accordance to methodological reference standards, to strengthen the reliability and generalizability of the findings, and to increase the relevance for implementing in clinical practice. K E Y W O R D S achondroplasia, adults, health-related quality of life, health status, medical complications, review