Flemish network on rare connective tissue diseases (CTD): patient pathways in systemic sclerosis. First steps taken.

peer reviewedDespite the low prevalence of each rare disease, the total burden is high. Patients with rare diseases encounter numerous barriers, including delayed diagnosis and limited access to high-quality treatments. In order to tackle these challenges, the European Commission launched the European Reference Networks (ERNs), cross-border networks of healthcare providers and patients representatives. In parallel, the aims and structure of these ERNs were translated at the federal and regional levels, resulting in the creation of the Flemish Network of Rare Diseases. In line with the mission of the ERNs and to ensure equal access to care, we describe as first patient pathways for systemic sclerosis (SSc), as a pilot model for other rare connective and musculoskeletal diseases. Consensus was reached on following key messages: 1. Patients with SSc should have multidisciplinary clinical and investigational evaluations in a tertiary reference expert centre at baseline, and subsequently every three to 5 years. Intermediately, a yearly clinical evaluation should be provided in the reference centre, whilst SSc technical evaluations are permissionably executed in a centre that follows SSc-specific clinical practice guidelines. In between, monitoring can take place in secondary care units, under the condition that qualitative examinations and care including interactive multidisciplinary consultations can be provided. 2. Patients with early diffuse cutaneous SSc, (progressive) interstitial lung disease and/or pulmonary arterial hypertension should undergo regular evaluations in specialised tertiary care reference institutions. 3. Monitoring of patients with progressive interstitial lung disease and/or pulmonary (arterial) hypertension will be done in agreement with experts of ERN LUNG

Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

Two unrelated, adult females with normal intelligence are described. They show a similar clinical picture with a long and narrow face, congenital cataract, microphthalmia, microcornea, a high nasal bridge, a short nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary teeth, oligodontia, variable root length including dental radiculomegaly, heart defects and cutaneous syndactyly of the 2nd-3rd toes. Abnormalities present in only one of the two patients were a cleft palate and a transverse vaginal septum, respectively. There are numerous similarities between our two patients and the family described by Wilkie et al. ((1993): Clin Dysmorphol 2: 114-119) and all may be examples of the same entit

Vormen van detentie

Recent advances in wearable sensor technology and smartphones enable simple and affordable collection of personal analytics. This paper reflects on the lessons learned in the SWELL project that addressed the design of user-centered ICT applications for self-management of vitality in the domain of knowledge workers. These workers often have a sedentary lifestyle and are susceptible to mental health effects due to a high workload. We present the sense–reason–act framework that is the basis of the SWELL approach and we provide an overview of the individual studies carried out in SWELL. In this paper, we revisit our work on reasoning: interpreting raw heterogeneous sensor data, and acting: providing personalized feedback to support behavioural change. We conclude that simple affordable sensors can be used to classify user behaviour and heath status in a physically non-intrusive way. The interpreted data can be used to inform personalized feedback strategies. Further longitudinal studies can now be initiated to assess the effectiveness of m-Health interventions using the SWELL methods

Mortality in general practice--an analysis of 841 deaths during a two-year period in 17 Dutch practices

PURPOSE: To gain insight into how general practitioners (GPs) determine the cause of death and record it on the death certificate for patients who die at home. METHOD: During 1998 and 1999, the number of patient deaths, as well as the cause and place of death, were registered for 17 general practices. RESULTS: A total of 841 patients died during the two-year study period: an average of 25 patients per practice, per year. 53.8% at home, 34.6% in hospital, 8.7% in a nursing home, and 2.8% elsewhere. When compared with national figures, the number of deaths due to neoplasms were similar, whereas there were clear differences when causes for sudden death were compared with the information obtained from the National Central Bureau of Statistics (CBS). Heart disease (19%) was registered less often, and cerebrovascular accidents (45%) more frequently. There were 57 (6.7%) deaths due to unnatural causes, 23 (2.6%) of which were due to euthanasia, which were all reported according to the law, requiring no further action. Autopsies were obtained in 3% of all deaths. CONCLUSION: Especially in cases of sudden death, determining the cause of death is guesswork. During medical school and continuing education, attention should be given to the completion of registration information. The Central Bureau of Statistics would be able to give more and better feedback to the physicians. A case is made for maintaining a death registry in each general practice. A death register is a means of reflection and for improving quality of care

Flemish network on rare connective tissue diseases (CTD) : patient pathways in systemic sclerosis. First steps taken

Abstract: Despite the low prevalence of each rare disease, the total burden is high. Patients with rare diseases encounter numerous barriers, including delayed diagnosis and limited access to high-quality treatments. In order to tackle these challenges, the European Commission launched the European Reference Networks (ERNs), cross-border networks of healthcare providers and patients representatives. In parallel, the aims and structure of these ERNs were translated at the federal and regional levels, resulting in the creation of the Flemish Network of Rare Diseases. In line with the mission of the ERNs and to ensure equal access to care, we describe as first patient pathways for systemic sclerosis (SSc), as a pilot model for other rare connective and musculoskeletal diseases. Consensus was reached on following key messages: 1. Patients with SSc should have multidisciplinary clinical and investigational evaluations in a tertiary reference expert centre at baseline, and subsequently every three to 5 years. Intermediately, a yearly clinical evaluation should be provided in the reference centre, whilst SSc technical evaluations are permissionably executed in a centre that follows SSc-specific clinical practice guidelines. In between, monitoring can take place in secondary care units, under the condition that qualitative examinations and care including interactive multidisciplinary consultations can be provided. 2. Patients with early diffuse cutaneous SSc, (progressive) interstitial lung disease and/or pulmonary arterial hypertension should undergo regular evaluations in specialised tertiary care reference institutions. 3. Monitoring of patients with progressive interstitial lung disease and/or pulmonary (arterial) hypertension will be done in agreement with experts of ERN LUNG

Flemish network on rare connective tissue diseases (CTD) : patient pathways in systemic sclerosis : first steps taken

Despite the low prevalence of each rare disease, the total burden is high. Patients with rare diseases encounter numerous barriers, including delayed diagnosis and limited access to high-quality treatments. In order to tackle these challenges, the European Commission launched the European Reference Networks (ERNs), cross-border networks of healthcare providers and patients representatives. In parallel, the aims and structure of these ERNs were translated at the federal and regional levels, resulting in the creation of the Flemish Network of Rare Diseases. In line with the mission of the ERNs and to ensure equal access to care, we describe as first patient pathways for systemic sclerosis (SSc), as a pilot model for other rare connective and musculoskeletal diseases. Consensus was reached on following key messages: 1. Patients with SSc should have multidisciplinary clinical and investigational evaluations in a tertiary reference expert centre at baseline, and subsequently every three to 5 years. Intermediately, a yearly clinical evaluation should be provided in the reference centre, whilst SSc technical evaluations are permissionably executed in a centre that follows SSc-specific clinical practice guidelines. In between, monitoring can take place in secondary care units, under the condition that qualitative examinations and care including interactive multidisciplinary consultations can be provided. 2. Patients with early diffuse cutaneous SSc, (progressive) interstitial lung disease and/or pulmonary arterial hypertension should undergo regular evaluations in specialised tertiary care reference institutions. 3. Monitoring of patients with progressive interstitial lung disease and/or pulmonary (arterial) hypertension will be done in agreement with experts of ERN LUNG