Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses.

BACKGROUND: Distichiasis, an ocular disorder in which aberrant cilia (eyelashes) grow from the opening of the Meibomian glands of the eyelid, has been reported in Friesian horses. These misplaced cilia can cause discomfort, chronic keratitis, and corneal ulceration, potentially impacting vision due to corneal fibrosis, or, if secondary infection occurs, may lead to loss of the eye. Friesian horses represent the vast majority of reported cases of equine distichiasis, and as the breed is known to be affected with inherited monogenic disorders, this condition was hypothesized to be a simply inherited Mendelian trait. RESULTS: A genome wide association study (GWAS) was performed using the Axiom 670 k Equine Genotyping array (MNEc670k) utilizing 14 cases and 38 controls phenotyped for distichiasis. An additive single locus mixed linear model (EMMAX) approach identified a 1.83 Mb locus on ECA5 and a 1.34 Mb locus on ECA13 that reached genome-wide significance (pcorrected = 0.016 and 0.032, respectively). Only the locus on ECA13 withstood replication testing (p = 1.6 × 10- 5, cases: n = 5 and controls: n = 37). A 371 kb run of homozygosity (ROH) on ECA13 was found in 13 of the 14 cases, providing evidence for a recessive mode of inheritance. Haplotype analysis (hapQTL) narrowed the region of association on ECA13 to 163 kb. Whole-genome sequencing data from 3 cases and 2 controls identified a 16 kb deletion within the ECA13 associated haplotype (ECA13:g.178714_195130del). Functional annotation data supports a tissue-specific regulatory role of this locus. This deletion was associated with distichiasis, as 18 of the 19 cases were homozygous (p = 4.8 × 10- 13). Genotyping the deletion in 955 horses from 54 different breeds identified the deletion in only 11 non-Friesians, all of which were carriers, suggesting that this could be causal for this Friesian disorder. CONCLUSIONS: This study identified a 16 kb deletion on ECA13 in an intergenic region that was associated with distichiasis in Friesian horses. Further functional analysis in relevant tissues from cases and controls will help to clarify the precise role of this deletion in normal and abnormal eyelash development and investigate the hypothesis of incomplete penetrance.

Non-pharmacological interventions for adults with intellectual disabilities and depression: a systematic review.

BACKGROUND: Although high rates of depression symptoms are reported in adults with intellectual disabilities (IDs), there is a lack of knowledge about non-pharmacological treatment options for depression in this population. The first research question of this paper is: Which non-pharmacological interventions have been studied in adults with ID and depression? The second research question is: What were the results of these non-pharmacological interventions? METHOD: Systematic review of the literature with an electronic search in six databases has been completed with hand searches. Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines have been followed. Selected studies met predefined inclusion criteria. RESULTS: Literature search resulted in 4267 papers of which 15 met the inclusion criteria. Five different types of non-pharmacological interventions have been studied: cognitive behavioural therapy, behavioural therapy, exercise intervention, social problem-solving skills programme and bright light therapy. CONCLUSION: There are only a few studies of good quality evaluating non-pharmacological interventions for adults with ID and depression. Some of these studies, especially studies on cognitive behavioural therapy, show good results in decreasing depressive symptoms. High-quality randomised controlled trials evaluating non-pharmacological interventions with follow-up are needed.

The applicability of bright light therapy in adults with moderate, severe or profound intellectual disabilities: a brief report.

BACKGROUND: Bright light therapy (BLT) is effective in the treatment of depression in the general population. It may be a good treatment option for adults with intellectual disabilities (ID) too. However, its applicability and effectiveness are not studied in groups of adults with ID, yet. Our aim was to study the applicability of BLT in adults with ID. METHODS: Bright light therapy was offered for 2 weeks, using a 10 000 lux light box, to 14 adults with moderate, severe or profound ID. Applicability of BLT and change in depressive symptoms were studied with questionnaires. RESULTS: Bright light therapy was successfully applied for ≥10 days in 10 participants. It was also applicable in participants with rather severe challenging behaviour. Before BLT, nine participants scored above the cut-off score of the ADAMS' depressive mood subscale. After BLT, six of them scored below cut-off. CONCLUSIONS: Bright light therapy is applicable in adults with moderate, severe of profound ID. Its effectiveness as a treatment for depression in adults with ID should be further studied.

Associations of symptoms of anxiety and depression with diabetes and cardiovascular risk factors in older people with intellectual disability.

BACKGROUND: Depression, anxiety, diabetes and cardiovascular risk factors are frequent health problems among older people with intellectual disability (ID). These conditions may be bidirectionally related. Depression and anxiety may have biological effects causing glucose intolerance, fat accumulation and also lifestyle changes causing metabolic syndrome. But also the effects of diabetes, metabolic syndrome and subsequent cardiovascular disease may affect mood and anxiety. This study investigated the association between depression, anxiety and diabetes and cardiovascular risk factors in older people with ID. METHODS: The healthy ageing in intellectual disability-study (HA-ID study) is a cross-sectional study among people aged 50 years and over with ID, receiving formal ID care. Screening instruments for symptoms of anxiety and depression were completed and physical examination and vena-puncture were performed to establish components of the metabolic syndrome, peripheral arterial disease and c-reactive protein. RESULTS: Of the 990 people who participated, 17% had symptoms of depression and 16% had symptoms of anxiety. Type I diabetes was present in 1%, type II diabetes in 13% of the study population. Metabolic syndrome, central obesity, hypercholesterolemia and hypertension were present in 45%, 48%, 23% and 53% respectively. In a multivariate logistic regression analysis a significant association was found between increased anxiety symptoms and diabetes only (OR 2.4, 95%CI 1.2-4.9). CONCLUSIONS: Increased anxiety symptoms and diabetes are related in older people with ID. This association may be bidirectional. No other associations of depression and anxiety symptoms with cardiovascular risk factors could be proven to be significant. Therefore, more research is needed to unravel the mechanisms of stress, mood disorders and cardiovascular disease in older people with ID. To provide comprehensive care for older people with ID, screening for diabetes and components of the metabolic syndrome in people with anxiety or mood disorders, and screening for symptoms of anxiety or depression in people with diabetes is warranted.

Treatment and long-term follow-up of distichiasis, with special reference to the Friesian horse: a case series.

REASONS FOR PERFORMING STUDY: Distichiasis is very uncommon in horses and treatment options and outcome remain unknown. OBJECTIVES: To describe treatment and long-term follow-up of distichiasis in the horse. STUDY DESIGN: Retrospective clinical study. METHODS: Case records of horses admitted for diagnosis and treatment of uni- or bilateral distichiasis between 2003 and 2012 were reviewed. Long-term (>6 months after last treatment) follow-up was by telephone conversation with the owner or referring veterinarian. Data were analysed using a Chi-squared test. RESULTS: Eighteen cases were identified, of which 17 were Friesians. All horses had signs of corneal irritation or ulceration concurrent with distichiasis. In total, 29 eyes were affected with distichiasis of which 23 had clinical signs. All corneas were stained with fluorescein and 13 had fluorescein positive defects (45%). The lower eyelid was affected more often. Two different electrocautery devices were used for treatment. The complications were slight scarring of the eyelids (100%) and clinical recurrence (54%). Successful resolution of the clinical signs after one treatment occurred in 46% of the horses and in 77% of the horses satisfactory long-term results were found after a mean of 2 treatments (range: 1- 6 treatments). There was significant correlation between number of hairs and recurrence (P<0.002). CONCLUSIONS: There is a breed predisposition of distichiasis in the Friesian horse. In Friesian horses that present with uni- or bilateral corneal irritation or corneal ulceration, careful examination of the eyelid margins should be performed to diagnose distichiasis. Electrocautery is a valid and successful therapeutic modality which is minimally invasive, inexpensive, has a low complication rate and is easy to perform in the standing sedated horse. The recurrence rate is low in horses with less than 5 distichiae.

Reliability and validity of the Dutch version of the Glasgow Anxiety Scale for people with an Intellectual Disability (GAS-ID).

BACKGROUND: In the Netherlands, no self-report screening questionnaire for anxiety in people with intellectual disabilities (ID) was available yet. Therefore, we have translated the Glasgow Anxiety Scale for people with an Intellectual Disability (GAS-ID) into Dutch and studied its reliability and validity in adults with borderline, mild or moderate ID. METHOD: Test-retest reliability was studied in 66 participants, convergent validity against the Anxiety sub-scale of the Hospital, Anxiety and Depression Scale (HADS-A) in 96, and criterion validity against psychiatric diagnosis in 195 participants. RESULTS: Internal consistency was α = 0.86 and test-retest reliability ICC = 0.89 (95% CI: 0.82-0.93). Correlation with the HADS-A was r = 0.61 (95% CI: 0.47-0.72); sensitivity was 83.9% (95% CI: 72.2-91.2) and specificity was 51.8% (95% CI: 43.6-59.9) using a cut-off score of 17. Missed diagnoses (false-negatives) were mostly specific phobias. Of the false-positives, 38 of 66 participants (58%) had another psychiatric diagnosis. CONCLUSIONS: The Dutch version of the GAS-ID is a reliable screening instrument with satisfactory sensitivity, but moderate specificity for anxiety disorders. Although specificity for anxiety disorders is only moderate, high scores appear to be indicative of other psychiatric problems too, justifying referral for psychiatric assessment of false-positives.

[Historical health posters as expressions of public health dilemmas]. / Historische gezondheidsaffiches als uitdrukking van sociaal-medische dilemma's.

Historical health posters as expressions of public health dilemmas. The University of Amsterdam's historical collection of health and safety posters (1914-1960) from various countries deals primarily with workplace safety, infectious diseases and the early detection of cancer. Distinct underlying socio-medical dilemmas emerge in four areas: the industrial-political issues behind promoting responsible behaviour in the workplace; class issues in public tuberculosis education; public morality in anti-venereal propaganda, and dealing with fear and hope in the management of cancer. The main goal of the historical posters was to establish a general awareness of both health and individual responsibility. Yet this collection illustrates how socio-medical, political and cultural contextual factors strongly influenced the message and style of the posters.

[A blind bicycle repair man at the Stedelijk Museum: the exhibition and congress 'labour for the disabled' of 1928]. / Een blinde fietsenmaker in Het Stedelijk. Tentoonstelling en Congres 'arbeid voor onvolwaardigen' in 1928.

In the 1920's concern about the rising number of disabled unemployed urban poor led to the founding of the AVO (Dutch organization for labour care for the disabled) in 1927. The AVO presented the problem of the vulnerability of the physically and mentally disabled in the labour market as a matter of collective responsibility. At the Amsterdam AVO congress of 1928 expert contributors discussed the economic, social and medical aspects of disability and work. Simultaneously, a museum exhibition aimed at arousing the interest of the general public and at promoting a more understanding attitude towards the disabled. Though the twofold AVO manifestation raised an immediate favourable general response and the subject was put on the political agenda, the subsequent economic recession and war forestalled concrete measures. Essentially it was the first public debate on disability in the Netherlands.

Cross-border health care in the European Union: recent legal implications of 'Decker and Kohll'.

In the European Union a growing number of citizens are receiving medical treatment in a country other than the one in which they are resident. This concerns migrant (frontier) workers, emergency treatment and preauthorized care. Since 1998 a 'new category' can be discerned of persons going abroad without prior authorization on the basis of the Decker and Kohll rulings of the EC Court of Justice. Local payers would, because of the Decker and Kohll judgements, be obliged to reimburse patients who travel abroad to circumvent the existing problems with the authorization rules. During the past years studies within specific so-called Euregions have been performed to analyse cross-border flows and provide some more insight in the practical and health policy consequences of the Decker and Kohll judgements. The abolishment of current preauthorization is pleaded for by many respondents in these studies. Waiting lists form an important motive (in particular in the Netherlands) to consume health care in another Member State (Belgium and Germany). The familiarity with (health care in) Belgium eases the unofficial Decker and Kohll route. However, when some parts of the health care services seem to be more expensive in the other Member State, the patient has to pay the difference. New court cases are pending before the European Court of Justice. These cases raise new issues such as the tenability of 'benefits-in-kind' systems. So far, the Decker and Kohll rulings could be seen as an incentive to enhance access to cross-border health care in border areas.

Private clinics for employees as a Dutch solution for waiting lists: economic and legal arguments.

Private clinics for employees have emerged on a small scale during the last few years in Dutch health care. They represent new possibilities for ill employees who have to wait for medical treatments on waiting lists. Earlier proposals to allow employers in close co-operation with health insurers to start initiatives for special clinics for employees have been confronted with all kind of arguments which were considered to form serious obstacles, from theoretical, legal and economic perspectives. The European Court of Justice plays a decisive role in deciding whether free establishment and access is approved according to the rules of the EC Treaty. Private clinics can be legally allowed in the interests of the common good. However, priority treatment of a person can only be justified if the intended purpose is justified and if the priority treatment is suited as a means to (partly) realise this purpose. Furthermore, possible negative consequences may not be unreasonable in the light of the intended consequences. In this article it will be argued that both from an economic and from a legal perspective, based on national and European law, the introduction of special clinics for employees could be allowed. The main argument is that they could be introduced on a just and equitable basis.

Cross-border alliances in health care: international co-operation between health insurers and providers in the Euregio Meuse-Rhine.

On behalf of the European Commission, a Cross-Border Health Care Project was undertaken to explore how citizens living in the Euregio Meuse-Rhine can obtain improved access to health services in the Member States concerned: Belgium, Germany, and The Netherlands. Main attention of the project is focused on practical issues of cross-border health care. The first results have shown that the new cross-border health alliances resulted in improved possibilities for patients to access more health care facilities than before. The creation of health care alliances could also be an example for future collaboration between the countries in Western, Central, and Eastern Europe. This paper also analyses the rights of patients on cross-border care in the Euregion.

The medical profession and alternative medicine in The Netherlands: its history and recent developments.

At the end of 1993, the Dutch parliament passed the Individual Health Care Professions Bill which replaced existing legislation. The new Act brings to an end the monopoly of the Dutch medical profession. The former prohibition on alternative practitioners to practice medicine was abolished. This article addresses the question of whether the Act affects the position of medical dominance in Dutch health care. It will be argued that the new Act preserves the present position of medical dominance to a large extent. Although alternative therapies have gained greater social recognition, there is little indication that the cultural and social authority of medicine is yet being challenged in the Netherlands. However, it could be argued that the Dutch health care system is moving in a more pluralistic direction.

Self-narrative as meaning construction: the dynamics of self-investigation.

Starting from the metaphor of the person as a motivated storyteller, a theory of meaning construction and reconstruction is presented. Two motives are assumed to be particularly influential in the process of meaning construction: The striving for self-enhancement and the longing for contact and union with somebody or something else. A self-confrontation method is discussed and illustrated, enabling clients to perform, in close cooperation with the psychotherapist, a self-investigation on the content and organization of their personal meaning units. The method represents a gradual transition between assessment and change. Three functions of the method are discussed: assessment, process promotion, and evaluation. These functions are illustrated with a diversity of clinical phenomena: the finding of a central theme in the client's self-narrative, the experience of hopelessness and helplessness, the organized nature of depression, and the construction of a scenario for emerging from a depressive state. Finally, the multivoiced and dialogical nature of the self is illustrated by the dream of a murderer who was perceived by the client as both inside and outside the self. Special attention is given to the shifting boundaries between self and nonself.

Contracting and the purchaser-provider split in western Europe a legal-organizational analysis.

Market forces have been introduced in the health care systems of many European countries. Fundamental to the introduction of the market was the need to distinguish between the roles of purchaser and provider. In this article the authors have analyzed the consequences of contracting and the purchaser-provider split from both a legal and organizational perspective. Using a modification of an existing theoretical framework for analyzing the basic health care models, contracting and the purchaser-provider split in some Western European countries has been analyzed. Including the legal and organizational dimension into these economically oriented models, these models can also be used for analyzing recent trends and developments. A four-country analysis indicates trends towards convergence of health care systems and both decentralization and integration in the systems. The future roles of both managers and lawyers working in health care need to be further defined.

Priorities and priority-setting in health care in the Netherlands.

Since 1990, the priority-setting has become one of the key issues in making choices in health care. In 1991, the now famous Dunning Report was presented to the Dutch Cabinet. One of its main conclusions was that health services should satisfy four criteria: necessary care, effectiveness, efficiency, and individual responsibility. Priority-setting can be done either by excluding medical treatments from compulsory health insurance coverage and/or by the use of both protocols and guidelines, and the individual selection of patients by health professionals. The discussion on the introduction of in vitro fertilization into the basic health insurance package and the exclusion of dental care for adults have shown that, on the basis of the Dunning criteria, it is not easy to leave complete or parts of services out of the basic health insurance package. The second strategy - the application of the Committee's criteria by the use of protocols, guidelines, and budget restrictions - is even more difficult to realize. More patients assert their right to health care benefits before courts. The courts' decisions have shown that it is difficult for the patient's counsellor to prove that government is responsible for non-delivery due to force majeur. Courts attach much importance to the Dunning criteria; in particular the criterion of necessity.

[The 'railway spine': alleged spinal injury caused by railway concussions as a basis for financial claims in 19th century England]. / De 'railway spine': vermeend ruggenmergletsel door spoorwegschokken als basis voor schadeclaims in het negentiende-eeuwse Groot-Brittannië.

The diagnosis 'railway spine' was a predominantly 19th century British phenomenon, with faint echos in the Netherlands. The diagnosis was controversial. Train accidents gave rise to litigation in compensation cases in which posttraumatic symptoms with no apparent lesions were related to molecular spinal damage. Medical opinion differed about the physical or psychic nature of the symptoms. The diagnosis was strongly associated with fraudulent claims for compensation and became obsolete after 1900, when the symptoms were generally diagnosed as a functional neurosis. The railway spine controversy was a precursor of the modern discussion concerning the validation of posttraumatic symptoms.

The development of diagnostic competence: comparison of a problem-based, an integrated, and a conventional medical curriculum.

PURPOSE: To compare the diagnostic performances of students in five curriculum years educated at schools with problem-based, integrative, or conventional medical curricula. METHOD: Data were analyzed in 1994 for 612 students in their second, third, or fourth (preclinical) or fifth or sixth (clinical) years at three Dutch medical schools with problem-based, integrative, or conventional curricula. The students gave differential diagnoses for 30 case histories that were epidemiologically representative of Dutch society and covered all organ systems. The numbers of accurate diagnostic hypotheses were tallied for each of the groups involved. The data were analyzed using analysis of variance and post-hoc Newman-Keuls tests. RESULTS: Overall, the students trained within the problem-based framework and the students trained within the integrated curriculum made more accurate diagnoses than the students trained within the conventional curriculum. No overall differences were found between the students in the problem-based and integrated curricula, although the second- and third-year students from the latter performed better than the second- and third-year students from both other schools. CONCLUSION: Integration between basic and clinical sciences and an emphasis on patient problems may be the critical factors that determine superior diagnostic performance rather than whether a curriculum is self- or teacher-directed. Problem-based learning seems to live up to its expectations, but so does the integrated approach to medical education. In addition, the procedure for measuring diagnostic performance appears to be valid and to provide a simple means of measuring curriculum effects. It remains to be seen whether the findings would be replicated when students are allowed to freely gather data in open interaction with patients rather than respond to written presentations of cases.

[Denturists and the Occupations in Individual Health Care Law]. / Tandprothetici in de Wet-BIG.

The legal position of denturists in the Netherlands will be discussed again in the near future. At the moment it is uncertain what the legal basis will be. It is important for denturists and other dental professionals to investigate the different possibilities in the legislation. Historical research and research of sources of law concerning the development of denturism learned that denturists have a lot of arguments to obtain a solid position in future legislation.