The mutation p.D313Y is associated with organ manifestation in Fabry disease.

Fabry disease (FD) is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of the mutation p.D313Y is still under debate. Retrospective chart analysis of clinical (neurological, cardiac, renal, and ophthalmological), genetic, and biochemical (lyso-globotriaosylsphingosine, lyso-Gb3; enzyme activity) data was performed in all our patients carrying the p.D313Y mutation. Fourteen patients from 5 families (10 female, 4 male; age range 10-51) were included. Symptoms and organ manifestations compatible with FD could be identified in 10 patients. Cerebrovascular events occurred in 4 females. Seven patients reported pain or acroparaesthesia. Cornea verticillata was found in 1 patient, mild retinal vascular tortuosity in 5 patients. Lyso-Gb3 was elevated in 2 females with cerebrovascular involvement. Classical cardiac, renal or skin manifestations could not be identified. The mutation p.D313Y in the GLA gene may lead to organ manifestations and elevation of the Fabry-specific biomarker lyso-Gb3. Neurological symptoms (stroke and pain) and ocular manifestations seem to be the leading findings. Annual routine visits are recommended for patients carrying the p.D313Y mutation. Enzyme replacement therapy might be considered in symptomatic patients.

[Managing concerns about falls in older people: evaluation of the implementation of an evidence-based program]. / Zicht op Evenwicht. Evaluatie van een landelijk geïmplementeerde cursus gericht op het verminderen van bezorgdheid om te vallen bij zelfstandig wonende ouderen.

INTRODUCTION: A cognitive behavioral program reduced concerns about falling and related avoidance behavior among older community-dwelling adults in a randomized controlled trial. In the current study we examined the effects and acceptability of the program after nation-wide implementation into home care organizations in The Netherlands. METHODS: In a one-group pretest-posttest study with data collection before the start of the program and at 2 and 4 months, the effects and acceptability of the program were assessed in 125 community-dwelling older people. The outcomes of the effect evaluation included concerns about falls, related avoidance behavior, falls, fall-related medical attention, feelings of anxiety, symptoms of depression, and loneliness. RESULTS: Pretest-posttest analyses with the Wilcoxon signed-rank test and the paired t-test showed significant improvements at 4 months for concerns about falls, activity avoidance, number of falls in the past 2 months, feelings of anxiety, and symptoms of depression. No significant differences were shown for the other outcomes. DISCUSSION: After implementation in home care organizations, the outcomes indicate positive program effects on concerns about falls, avoidance behavior, and falls in community-dwelling older people. Given the similarity in results, i.e. between those of the previously performed randomized controlled trial and those of the current pretest-posttest study, we conclude that the program can be successfully implemented in practice. This article is an adjusted, Dutch version of Zijlstra GA, van Haastregt JC, Du Moulin MF, de Jonge MC, van der Poel A, Kempen GI. Effects of the implementation of an evidenc-based program to manage concerns about falls in older adults. The Gerontologist 2013;53(5):839-849; doi: 10.1093/geront/gns142.

[A Matter of Balance: strategy for implementation in Dutch homecare organizations]. / Zicht op Evenwicht Landelijke implementatie van een cursus gericht op het verminderen van angst om te vallen bij zelfstandig wonende ouderen.

BACKGROUND: The Dutch version of A Matter of Balance (AMB-NL) is a cognitive behavioral group program to reduce fear of falling and related activity avoidance in community-living older persons. This paper presents the strategy for implementation of AMB-NL in Dutch homecare organizations and the outcomes of this implementation. The aim was to implement AMB-NL in at least 50 % of 64 homecare organizations in The Netherlands in 2009 and 2010. METHODS: The implementation strategy was based on the four phases of the Replicating Effective Interventions: pre-conditions, pre-implementation, implementation, and maintenance and evolution. RESULTS: After preparing the implementation activities, such as identifying implementation barriers, consulting stakeholders, preparing the materials involved in the implementation, and training the facilitators of the program (n = 53), AMB-NL was implemented in 16 of the 64 homecare organizations (25 %). Another five homecare organizations indicated that they would shortly include AMB-NL in their care program. These organizations conducted the intervention 19 times to a total of 178 participants. After the implementation phase another 16 facilitators were trained, and program materials were successfully disseminated. CONCLUSION: The implementation of AMB-NL was well performed. The targeted aim is not fully reached within the two-year timeframe, but the program is well received by participants, trainers and homecare organizations. Further implementation and maintenance of AMB-NL in primary health care is recommended.

Prevalence of urinary incontinence among community-dwelling adults receiving home care.

We conducted a cross-sectional survey in 2005 to determine the prevalence of and factors associated with urinary incontinence (UI) in adults receiving home care. Of the 2,866 patients surveyed, 46% suffered from UI; 6.5% had stress, 16.6% had urge, 9% had mixed, and 17.6% had functional incontinence. No diagnosis regarding type of UI had been established in 50.2%. Factors associated with UI were advanced age, higher body mass index, and impaired mobility. UI is prevalent in older persons receiving home care, but the lack of diagnosis of type of UI in half of the participants surveyed impedes management of UI.

The role of the nurse in community continence care: a systematic review.

Urinary incontinence (UI) is a condition that is associated with decreased quality of life. Apart from this impact on quality of life, UI is also a very costly problem. It is recognised that 'usual care' for patients suffering from UI is not optimal. Specialised nurses can play an important role in the care for community-dwelling incontinent patients, as they have the appropriate interpersonal and technical skills to provide patient-tailored care. This systematic review analyses the effect of treatment by nurses on clinical and economic outcomes. A total of 12 randomised controlled trials (RCTs) were found, varying in terms of population, setting, outcome measurement and control/intervention. There is limited evidence that treatment by nurses results in a decrease in incontinence. No evidence was found for cost reduction. Recommendations are made for future studies.

The reliability of diagnosis using store-and-forward teledermatology.

We compared diagnoses made by a teledermatologist from digital photographs and patient histories sent from general practitioners using a store-and-forward technique and those made by another dermatologist in a face-to-face consultation with the same patients. A total of 117 patients (mean age 47 years) were referred by 18 general practitioners for diagnosis of a skin condition. Between one and seven digital images were transmitted per case. In 31% of the cases, three images were transmitted. There was full concordance between store-and-forward and face-to-face diagnoses in 57 of 106 cases (54%); in 10 cases (9%) there was overlap between the differential diagnoses provided by the teledermatologist and the face-to-face consultant. Diagnostic categories with relatively high concordances were eczema and follicular eruptions. General practitioners need to be trained in the making of digital images and in giving a good patient history.

[Gender factors in the selection of training for a medical specialty]. / Genderfactoren in de keus voor opleiding tot medisch specialist.

OBJECTIVE: To investigate the choice-making process of male and female doctors regarding their wishes for a career, and their behaviour in the event of their trying to obtain a resident's post. DESIGN: Descriptive. METHODS: An inquiry by telephone was held in 1995 among a group of 600 doctors all graduated from university in 1993 in the Netherlands. Of the respondents (n = 490; 82%) 57% of the female and 63% of the male doctors aspired to become a resident in a hospital. The 293 respondents who wanted to obtain a resident's post were asked for the factors that influenced their choices and to what extent they did. The scores ranked from 1 ('very positively') to 5 ('very negatively'). RESULTS: Within 2 years after graduating from university 26% worked as a resident. In their choice for a specialty male doctors were positively influenced by technology (mean score: 2.9 versus 2.5), status and income (5.9 versus 5.6) and scientific activities (2.4 versus 2.1). Women were more influenced by intensive contact with patients (2.0 versus 1.7), favourable working hours and relatively few shifts (10.9 versus 10.3). Of the women 43% wanted to work part time, as against 14% of the men. While the men preferred an informal approach in looking for a post (38%; formal approach: 29%), women were evenly divided: informal approach 36%, formal approach 36%.

Quality systems to improve care in older patients with urinary incontinence receiving home care: do they work?

OBJECTIVE: To gain insight into the use of quality systems to improve urinary incontinence (UI) care in older adults receiving home care and to assess the associations between these quality systems and UI-related process and patient outcomes. DESIGN: Cross-sectional survey. SETTING: 19 home care agencies in the Netherlands comprising 155 home care teams. SAMPLE: 3480 adults aged 65 years and older, screened for UI. MAIN OUTCOME MEASURES: Percentage of patients with UI, percentage of patients with a diagnosis regarding type of UI, mean amount of urine loss and mean frequency of urine loss. RESULTS: The quality systems most commonly used included appointing a continence nurse (at the home care agency level) and documenting UI-related actions in the patient's record (home care teams). Mixed model analyses revealed no associations between the quality systems and the UI process or patient outcomes. CONCLUSION: Most home care agencies and home care teams claim that they adopt quality systems to improve UI care for older adults. However, no associations were found between these quality systems and the UI process or patient outcomes. More research with a precise monitoring of implemented systems is therefore needed to gain insight into the effectiveness of quality systems and their applicability in the home care setting.

Effects of introducing a specialized nurse in the care of community-dwelling women suffering from urinary incontinence: a randomized controlled trial.

PURPOSE: Urinary incontinence (UI) often remains inadequately treated. In the literature, there are indications that continence nurses' diagnoses and treatment advices are beneficial in terms of clinical outcomes. However, the precise short-term and long-term effects are unclear. This study investigates the short-term and long-term effects of the introduction of a continence nurse in the care of community-dwelling women suffering from UI. METHODS: In a cluster randomized study, 38 women were referred to the continence nurse who, guided by a protocol, assessed and advised the patients about therapy, lifestyle, or medication. If progress was disappointing, therapy was revised. Results were compared to a group of 13 women who received "usual care" by the general practitioner. Data on frequency and volume of incontinence, quality of life, and patient satisfaction were collected at baseline and after 3, 6, and 12 months. RESULTS: After 6 months, women in the intervention group reported a greater reduction in "moderate" incontinent episodes when compared to women in the control group. No treatment effect was found after 12 months. Although there was a stronger improvement in scores as regards to quality of life in the intervention group, with the exception of the dimension "physical," no treatment effect was found. CONCLUSION: The introduction of a continence nurse demonstrates short-term benefit to community-dwelling women suffering from UI. However, the long-term effects should be further explored with larger study populations. TRIAL REGISTRATION NUMBER: ISRCTN15553880.