Patient reported long-term side effects on bowel function and anal pain in anal cancer survivors - 3- and 6-year results from the Swedish national ANCA study.

AIM: The primary therapeutic option for anal cancer treatment is chemoradiotherapy resulting in 80% survival. The aim of this study was to assess long-term bowel function impairment and anal pain at 3 and 6 years after anal cancer diagnosis, based on a hypothesis of an increase in impairment over time. A secondary aim was to investigate if chemoradiotherapy increased the risk for bowel impairment, compared to radiotherapy alone. METHOD: The ANal CAncer study (ANCA) consists of a national Swedish cohort of patients diagnosed with anal cancer between 2011-2013. Patients within the study were invited to respond to a study-specific questionnaire at 3- and 6-years after diagnosis. Descriptive analyses for the primary endpoint and ordinal logistic regressions for secondary endpoint were performed. RESULTS: A total of 388 patients (84%) were included in the study. At 3 years of follow-up, 264 patients were alive. A total of 195 of these patients (74%) answered a study specific questionnaire, and at 6 years 154 patients (67%). Fifty-seven percent experienced bowel urgency at both 3 and 6 years. There was an increased risk for repeated bowel movement within 1 h (OR 2.44 [95% CI: 1.08-5.61, p = 0.03]) at 3 years in patients who had been treated by chemoradiation compared to radiotherapy alone. CONCLUSIONS: Impairment in bowel function and anal pain after anal cancer treatment should be expected and remains after 6 years. This suggests that long-term follow-up may be necessary in some form after customary follow-up. The addition of chemotherapy increases long-term side effects of bowel function.

Patient reported long-term side effects from treatment on urinary and sexual function in anal cancer survivors - 3- and 6-year results from the Swedish national ANCA study.

AIM: The standard treatment for anal cancer is chemoradiotherapy. Most patients survive anal cancer but remain living with long-term side effects related to the treatment received. The aim of this study was to assess the occurrence of long-term impairment of urinary and sexual function at 3 and 6 years after diagnosis and to investigate the additive effect from chemotherapy in combined chemoradiotherapy on urinary incontinence, compared to radiotherapy alone. METHOD: The ANal CAncer study (ANCA) is based on a national Swedish cohort of patients diagnosed with anal cancer between 2011 and 2013. All identified patients within the study were invited to respond to a study-specific questionnaire at 3 and 6 years. Descriptive analyses for the primary endpoint were performed. To investigate a possible additional effect from chemotherapy logistic regression was used. RESULTS: A total of 388 patients were included in the study. At 3 years 264 patients were alive and invited to respond to an anal cancer specific questionnaire. The 3- and 6 year response rates were 195 (74%) and 155 patients (67%), respectively. The patient reported urinary function impairment at 3 years were urgency (63%), incomplete bladder emptying (47%), and incontinence (46%) and there was an absolute increase of the prevalence of urinary dysfunction in about 10% at 6 years. Three years after diagnosis, 77% reported that intercourse was not part of their sex life; this percentage increased at 6 years to 83%. We found no negative effect of chemotherapy in combined chemoradiotherapy versus radiotherapy alone on patient reported urinary incontinence. CONCLUSION: For anal cancer survivors, urinary function was impaired after 3 years and continued to deteriorate as measured at 6 years after diagnosis. Anal cancer and its treatment negatively affected sexual function for both men and women. This may explain why patients reported that sexual activity and frequency of intercourse was not of importance in their life.

Factor structure of FUNDES-Child-SE measuring the participation and independence of children with disabilities.

BACKGROUND: FUNDES-Child-SE is a proxy rating questionnaire for measuring participation and independence in children with disabilities in a Swedish context. It includes the components of frequency of attendance, engagement and independence. The original, Taiwanese FUNDES-Child 7.0, has previously been found to have a four-factor structure for frequency of participation and a two-factor structure for independence. The aim of this study was to test the factor structure in FUNDES-Child-SE. The factor structure is an important part of construct validity. METHODS: Caregivers of 163 children with disabilities aged 6-18 years participated in this cross-sectional study. Exploratory factor analysis was used to find the factor structure for Engagement. Confirmatory factor analysis was used to test the factor structure for all three components. RESULTS: The proposed factor structure for frequency of participation (daily living participation frequency, mobility participation frequency, learning participation frequency and community participation frequency) and independence (daily living independence and social participation independence) fit with data from FUNDES-Child-SE after excluding three to five items and adding two to five covariances of residuals. In the engagement component, two factors, named engagement in informal activities and engagement in formal activities, were found. After excluding one item and adding 10 covariances of residuals, the factor structure had an acceptable fit to data. CONCLUSIONS: Differences in components' factor structure indicate that attendance and engagement are separate aspects of participation. Before using numeric scores from FUNDES-Child-SE in clinical settings, responsiveness and interpretability should be evaluated.

Long-term survival after treatment for primary anal cancer- results from the Swedish national ANCA cohort study.

BACKGROUND: Squamous cell carcinoma of the anus is increasing in incidence but remains a rare disease with good 3- and 5-year recurrence free and overall survival rates of 63%-86%. The treatment includes chemoradiotherapy, mainly with 5-fluoruracil (5FU) and mitomycin. The aim of this study was to describe long-term (up to 9 years after treatment) oncological outcome and the types of treatments given, in a Swedish national cohort of patients diagnosed with anal cancer between 2011 and 2013. METHOD: Patients were identified in the Swedish Cancer Registry. Patients still alive were contacted and asked for consent. Clinical data were retrieved from National Patient Register at the Swedish National Board of Health and Welfare and from medical records. Unadjusted and adjusted analyses were performed for overall survival. RESULTS: Three hundred and eighty-eight patients were included in the study of which 338 patients (87%) received treatment with a curative intent. Follow up was 85 months (0-113 months) for patients treated with curative intent (information missing in one patient) 7.5 months (0-55) for patients with treated with a palliative intent. Curative treatment varied and consisted of both chemoradiotherapy and radiotherapy (46-64 Gy) alone. 5-FU, mitomycin and cisplatin were the most used chemotherapy agents. Five-year overall survival for patients treated with curative intent was 73%. In an adjusted analysis 5-FU and mitomycin is associated with a lower mortality than 5-FU and cisplatin but the association was weaker (HR 1.61 (95% CI: 0.904; 2.85) than in the unadjusted analysis. CONCLUSIONS: In this national cohort overall five-year survival was 73% for patients treated with curative intent. As reported by others our results indicate that 5-FU and mitomycin C should be the preferred chemotherapy in treatment for cure.

Patient-reported QoL in anal cancer survivors 3 and 6 years after treatment-results from the Swedish national ANCA study.

PURPOSE: The impact of anal cancer treatment for the patients is best evaluated by the patients themselves. The purpose of this study was to investigate quality of life (QoL) in patients with anal cancer at 3 and 6 years after treatment. METHODS: A Swedish national cross-sectional prospective cohort study with patients diagnosed with anal cancer between 2011 and 2013. Patients were invited to respond to a QoL questionnaire at 3 and 6 years, with focus on bowel, urinary and sexual function, social and mental function, co-morbidity, lifestyle, daily activities, personal characteristics, and perceived QoL. It also contained questions on the severity of the symptoms regarding occurrence, frequency, and duration and the level of "bother" experienced related to functional symptoms. QoL and prevalence of bother with urinary, sexual, bowel dysfunction, and anal pain were described. The prevalence of impaired QoL was compared with a healthy reference population. The association between QoL and experiencing bother was quantified by regression models. RESULTS: From an original cohort of 464 patients with anal cancer, 264 (57%) were alive and contacted at 3 years and 230 (50%) at 6 years. One hundred ninety-five (74%) patients responded to the 3-year and 152 (66%) to the 6-year questionnaire. Sixty percent reported low QoL at both 3 and 6 years. Impaired QoL was more prevalent among patients with major bother due to bowel dysfunction (at 3 years RR 1.42, 95% CI (1.06-1.9) p-value 0.020, at 6 years RR 1.52, 95% CI (1.03-2.24) p-value 0.034) and urinary dysfunction (at 6 years RR 1.44, 95% CI (1.08-1.91) p-value 0.013). There was a tendency to a positive relationship between the number of bodily functions causing bother and risk for impaired QoL. CONCLUSION: Patients treated for anal cancer reported bother regarding several bodily functions as well as poor QoL both at 3 and 6 years without much improvement. Bother was also associated with low QoL indicating that function-related bother should be addressed.

Afforestation driving long-term surface water browning.

Increase in surface water color (browning), caused by rising dissolved organic carbon (DOC) and iron concentrations, has been widely reported and studied in the last couple of decades. This phenomenon has implications to aquatic ecosystem function and biogeochemical carbon cycling. While recovery from acidification and changes in climate-related variables, such as precipitation and length of growing season, are recognized as drivers behind browning, land-use change has received less attention. In this study, we include all of the above factors and aim to discern their individual and combined contribution to water color variation in an unprecedentedly long (1940-2016) and highly resolved dataset (~20 times per month), from a river in southern Sweden. Water color showed high seasonal variability and a marked long-term increase, particularly in the latter half of the dataset (~1980). Short-term and seasonal variations were best explained by precipitation, with temperature playing a secondary role. All explanatory variables (precipitation, temperature, S deposition, and land-use change) contributed significantly and together predicted 75% of the long-term variation in water color. Long-term change was best explained by a pronounced increase in Norway spruce (Picea abies Karst) volume-a measure of land-use change and a proxy for buildup of organic soil layers-and by change in atmospheric S deposition. When modeling water color with a combination of explanatory variables, Norway spruce showed the highest contribution to explaining long-term variability. This study highlights the importance of considering land-use change as a factor behind browning and combining multiple factors when making predictions in water color and DOC.

Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter.

Comparative analyses of transcriptional profiles from humans and mice with cardiovascular pathologies revealed consistently elevated expression of MICU2, a regulatory subunit of the mitochondrial calcium uniporter complex. To determine if MICU2 expression was cardioprotective, we produced and characterized Micu2-/- mice. Mutant mice had left atrial enlargement and Micu2-/- cardiomyocytes had delayed sarcomere relaxation and cytosolic calcium reuptake kinetics, indicating diastolic dysfunction. RNA sequencing (RNA-seq) of Micu2-/- ventricular tissues revealed markedly reduced transcripts encoding the apelin receptor (Micu2-/- vs. wild type, P = 7.8 × 10-40), which suppresses angiotensin II receptor signaling via allosteric transinhibition. We found that Micu2-/- and wild-type mice had comparable basal blood pressures and elevated responses to angiotensin II infusion, but that Micu2-/- mice exhibited systolic dysfunction and 30% lethality from abdominal aortic rupture. Aneurysms and rupture did not occur with norepinephrine-induced hypertension. Aortic tissue from Micu2-/- mice had increased expression of extracellular matrix remodeling genes, while single-cell RNA-seq analyses showed increased expression of genes related to reactive oxygen species, inflammation, and proliferation in fibroblast and smooth muscle cells. We concluded that Micu2-/- mice recapitulate features of diastolic heart disease and define previously unappreciated roles for Micu2 in regulating angiotensin II-mediated hypertensive responses that are critical in protecting the abdominal aorta from injury.

'We try' - how nurses work with patient participation in forensic psychiatric care.

RATIONALE: Patients in secure forensic psychiatric care have reduced autonomy because of the constraints imposed on them by compulsion laws. Thus, it is vital that nurses enable patient participation whenever possible. Patient participation, and it's clinical use in forensic psychiatric care, is an understudied field. AIM: To describe nurses' experiences of their work with patient participation in forensic psychiatric care. METHODS: Managers at different secure forensic psychiatric institutions in the south of Sweden approved the study, and oral consent was retrieved from informants. Interviews guided by a semi-structured interview guide were conducted with nine nurses from five different forensic psychiatric institutions and analysed with content analysis. FINDINGS: Nurses describe diverse understandings and abilities in an inflexible setting. This indicates that what participation is, and how to achieve it, is not the same for nurses as for patients. Moreover, patients have different abilities to participate, and the secure setting in itself is perceived as hindering participatory work. Still, participation is described as a crucial part of work that requires a caring relationship. Furthermore, nurses pronounce potentially excluding attitudes and strategies that may obstruct patient participation for all, and at the same time, they have a belief that improvement is possible. CONCLUSION: Compulsory forensic psychiatric care is a complex care context that requires constant efforts from nurses to balance patients' rights and needs with mandatory care. The very nature of this caring context appears to be a major obstacle when promoting patient participation. Nevertheless, nurses express that they do aim for patient participation, 'they try'. From a patient's perspective, trying is not sufficient and a need for improvement is evident. The results can be of clinical interest in similar secure forensic psychiatric nursing settings, and a point of departure in future development of care striving for increased patient participation for all.

Half a century of multiple anthropogenic stressors has altered northern forest understory plant communities.

Boreal forests form the largest and least disturbed forest biome in the northern hemisphere. However, anthropogenic pressure from intensified forest management, eutrophication, and climate change may alter the ecosystem functions of understory vegetation and services boreal forests provide. Swedish forests span long gradients of climate, nitrogen deposition, and management intensity. This makes them ideal to study how the species composition and functions of other, more pristine, boreal forests might change under increased anthropogenic pressure. Moreover, the National Forest Inventory (NFI) has collected systematic data on Swedish forest vegetation since the mid-20th century. We use this data to quantify changes in vegetation types between two periods, 1953-1962 and 2003-2012. The results show changes in forest understory vegetation since the 1950s at scales not previously documented in the boreal biome. The spatial extent of most vegetation types changed significantly. Shade-adapted and nutrient-demanding species (those with high specific leaf area) have become more common at the expense of light-demanding and nutrient-conservative (low specific leaf area) species. The cover of ericaceous dwarf shrubs decreased dramatically. These effects were strongest where anthropogenic impacts were greatest, suggesting links to drivers such as nitrogen deposition and land-use change. These changes may impact ecosystem functions and services via effects on higher trophic levels and faster plant litter decomposition in the expanding vegetation types. This, in turn, may influence nutrient dynamics, and consequently ecosystem productivity and carbon sequestration.

Young Children's Participation and Environment Measure: Swedish Cultural Adaptation.

AIM: To culturally adapt and evaluate the psychometric properties of the Young Children's Participation and Environment Measure (YC-PEM) for use by caregivers of Swedish children with and without disabilities, aged 2-5 years. METHODS: Thirteen cognitive interviews and two focus groups with caregivers of children with and without disabilities were conducted to evaluate the cultural relevance of YC-PEM content for use in Sweden. Per participant feedback, a revised version of the Swedish YC-PEM was created and pilot tested with caregivers of children with disabilities (n = 11) and children with typical development (n = 22). RESULTS: User feedback informed content revisions to 7% of items. Internal consistency estimates of the Swedish YC-PEM pilot version were acceptable and ranged from .70 to .92 for all but two of the YC-PEM scales. Mean percentage agreement between raters ranged from 47% to 93% across YC-PEM scales for inter-rater, and 44% to 86% for test-retest. One of twelve YC-PEM scales revealed significant group differences between young children with and without disabilities. CONCLUSIONS: This study contributes preliminary evidence for the use of some scales within a culturally adapted YC-PEM in Sweden. Further validation with larger samples will allow for parametric testing to evaluate its psychometric properties.

Late potentials and their correlation with ventricular structure in patients with ventricular arrhythmias.

INTRODUCTION: The presence of late potentials (LP) may indicate a predisposition to ventricular arrhythmias and sudden cardiac death. We investigated the association between presence of LP and structural cardiac anomalies assessed by magnetic resonance (CMR) in patients presenting with ventricular arrhythmias. METHODS: We included 42 patients admitted with ventricular tachycardia or fibrillation who had undergone both signal-averaged ECG recording and CMR imaging. Clinical data and CMR findings were compared in patients with and without LP. RESULTS: The majority, 26 (62%) patients, were sudden cardiac death survivors and the remaining 16 (38%) were admitted with ventricular tachycardia. After full diagnostic work-up, the most common diagnoses in the cohort were idiopathic ventricular tachycardia/ventricular fibrillation (25 patients, 60%) or cardiomyopathies (11 patients, 26%). LPs were positive in 29 (69%) when using the revised Task Force criteria. When comparing patients with and without late potentials, there were no significant differences in right ventricular size relative to body surface area (102 mL/m2 vs 92 mL/m2 ), right ventricular ejection fraction (55% vs 58%), or positive late gadolinium enhancement (29% vs 24%). CONCLUSIONS: Among patients with malignant arrhythmias, the presence of LP does not distinguish between patients with normal and abnormal RV structure or function on CMR. LP may indicate the presence of an arrhythmic heart disease beyond what can be inferred from CMR. The frequent finding of late potentials indicates that the diagnostic value of LP as an ARVC criteria should be tested in larger studies comparing ARVC patients and controls.

Placental Growth during Normal Pregnancy - A Magnetic Resonance Imaging Study.

OBJECTIVE: To investigate normal human placental growth longitudinally throughout the second and third trimesters using MRI. METHODS: Twenty normal, first-time singleton pregnancies were scanned 7 times between the 14th and 38th week of gestation, at 4-week intervals, using MRI. Placental volumes were measured in both sagittal and transversal slices. All placentas were weighed after delivery to make a comparative study. RESULTS: Sixteen of the 20 women had increasing placental volumes from the 14th to 38th week of gestation. The 6th and 7th scan showed that 4 women had placentas of the same size. The mean placental volume increases linearly from the 14th till the 38th week of gestation, with a constant mean growth rate of 29.97 ml/week. The median placental volume extrapolated to delivery was to 856 ml (range 602-1,050 ml). The median weight of the exsanguinated placenta after delivery was 640 g (range 500-787 g). All pregnancies were carried to term, resulting in the delivery of healthy infants with good correlation between placental size and birth weight (R = 0.56, p = 0.009). CONCLUSION: Placental growth was measured systematically in a longitudinal study through the second and third trimesters using MRI. MRI provides a safe and feasible method to measure placental growth. The mean placental growth was linear throughout the second and third trimesters.

Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy: A Nationwide Family Study in a Cohort of 3.9 Million Persons.

BACKGROUND: Recommendations for presymptomatic screening of relatives of cardiomyopathy patients are based on findings from tertiary centers. Cardiomyopathy inheritance patterns are fairly well understood, but how cardiomyopathy in younger persons (<50 years) aggregates in families at the population level is unclear. In a nationwide cohort, we examined the risk of cardiomyopathy by family history of premature death (<60 years) from cardiomyopathy. METHODS AND RESULTS: By linking Danish national register data, we constructed a cohort of 3.9 million persons born from 1950 to 2008. We ascertained family history of premature (<60 years) death from cardiomyopathy or other conditions, and cohort members were followed from 1977 to 2008 for cardiomyopathy diagnosed at <50 years. We identified 3890 cardiomyopathies in 89 million person-years of follow-up. Using Poisson regression, we estimated incidence rate ratios for cardiomyopathy by family history of premature death. Premature cardiomyopathy deaths in first- and second-degree relatives were associated with 29- and 6-fold increases in the rate of cardiomyopathy, respectively. If the first-degree relative died aged <35 years, the rate of cardiomyopathy increased 100-fold; given ≥2 premature deaths in first-degree relatives, the rate increased more than 400-fold. In contrast, a family history of premature death from other cardiac or noncardiac conditions increased the rate of cardiomyopathy 3-fold at most. CONCLUSIONS: A family history of premature cardiomyopathy death was associated with an increase in risk of cardiomyopathy ranging from 6- to 400-fold, depending on age, kinship, gender and number of affected family members. Our general population-based results support recommendations for presymptomatic screening of relatives of cardiomyopathy patients.

Cardiac magnetic resonance imaging after ventricular tachyarrhythmias increases diagnostic precision and reduces the need for family screening for inherited cardiac disease.

AIMS: Guidelines recommend evaluation of family members of sudden cardiac death victims. However, initiation of cascade screening in families with uncertain diagnoses is not cost-effective and may cause unnecessary concern. For these reasons, we set out to assess to what extent cardiac magnetic resonance imaging (CMR) would increase the diagnostic precision and thereby possibly change the indication for family screening in patients with ventricular tachyarrhythmias. METHODS AND RESULTS: We retrospectively collected data from 79 patients hospitalized with aborted cardiac arrest (resuscitated from a cardiac arrest), ventricular tachycardia (VT), or syncope who underwent a CMR at the Copenhagen University Hospital, Rigshospitalet, Denmark. Besides CMR, the patients were evaluated with an electrocardiogram, echocardiogram (both 100%), coronary angiogram (CAG)/coronary computed tomography scan (CT-CAG) (81%), exercise stress test (47%), late potentials (54%), electrophysiological study (44%), pharmacological provocation (44%), and/or myocardial biopsy (16%). Family screening was indicated for 53 probands (67%) prior to CMR. After full workup, only 43 cases (54%) warranted evaluation of relatives (19% decrease, P = 0.034). The full evaluation changed whether family screening was indicated in 18 probands (14/18 moved to no indication for family screening). In the 18 where recommendations on family screening changed, CMR findings were the major driver for re-classification in 17 cases. CONCLUSION: Cardiac magnetic resonance imaging re-defines the cardiac diagnoses in a significant proportion of cases and reduces the number of patients in whom family screening is warranted. Cardiac magnetic resonance imaging is highly relevant for optimal care and resource allocation when an inherited heart disease is the presumed cause of life-threatening arrhythmias.

Electrophoretic deposition on nonconducting substrates: a demonstration of the application to microwave devices.

Through the use of a sacrificial carbon layer, this work reports a method of performing electrophoretic deposition (EPD) of thick films on fully nonconducting substrates, overcoming the restricting requirement for EPD of a conducting or partially conducting substrate. As a proof of concept, the method was applied to the development of microwave-thick films on insulating alumina substrates. The key parameter to be controlled is the thickness of the sacrificial carbon layer; this is expected to be a general result for the application of the processing method. The method allows direct patterning of the structure and leads to the potential use of EPD in a far wider range of electronic applications (multilayer ceramic capacitors (MLCCs), low-temperature cofired ceramics (LTTCs), and biotech devices). Furthermore, in conjunction with work reported elsewhere, the development of specific BaNd2Ti5O14 (BNT) thick-film microwave dielectrics opens up a technology platform for a range of high-quality factor (Q) devices. More specifically, 100-µm-thick BNT layers were achieved with a dielectric constant of 149 and Q of 1161 (10 GHz). These materials can now be integrated with tunable dielectrics or dielectrics on metal substrates to provide a platform for devices in the front end of communication systems and cellular base stations.

The role of the external personal assistants for children with profound intellectual and multiple disabilities working in the children's home.

BACKGROUND: Children with profound intellectual and multiple disabilities need support to function in an optimal way. However, there is a limited knowledge about the role of external personal assistants working in the children's home. MATERIALS AND METHODS: A mixed method study was performed including qualitative data from interviews with 11 Swedish parents and nine external personal assistants and quantitative data from questionnaires answered by 60 families. RESULTS: For the child, the assistant's role was one of reinforcing, meaning supportive and empowering, and the child needed a high level of assistance. For the family, the role was one of balancing and the external personal assistant was more often found to assist in activities away from home while parents tended to assist within home and in family unit activities. CONCLUSION: In planning and implementation of external assistance, the child's needs as well as considerations of the whole family should be regarded.

Sildenafil and diastolic dysfunction after acute myocardial infarction in patients with preserved ejection fraction: the Sildenafil and Diastolic Dysfunction After Acute Myocardial Infarction (SIDAMI) trial.

BACKGROUND: Diastolic dysfunction is frequently seen after myocardial infarction and is characterized by a disproportionate increase in filling pressure during exercise to maintain stroke volume. We hypothesized that sildenafil would reduce filling pressure during exercise in patients with diastolic dysfunction after myocardial infarction. METHODS AND RESULTS: Seventy patients with diastolic dysfunction and near normal left ventricular ejection fraction on echocardiography were randomly assigned sildenafil 40 mg thrice daily or matching placebo for 9 weeks. Before randomization and after 9 weeks of treatment patients underwent simultaneous echocardiography and right heart catheterization at rest and during exercise. Primary end point was pulmonary capillary wedge pressure, and secondary end points comprised cardiac index and pulmonary arterial pressure at rest and during exercise after 9 weeks. After 9 weeks there were no differences in pulmonary capillary wedge pressure at rest (13±4 versus 13±3 mm Hg, P=0.25) or at peak exercise (35±8 mm Hg versus 31±7 mm Hg, P=0.07). However, with treatment cardiac index increased at rest (P=0.006) and peak exercise (P=0.02) in the sildenafil group, and systemic vascular resistance index (resting, P=0.0002; peak exercise, P=0.007) and diastolic blood pressure (resting, P=0.005; peak exercise, P=0.02) were lower in the sildenafil group. Resting left ventricular end-diastolic volume index increased (P=0.001) within the sildenafil group but was unchanged in the placebo group. CONCLUSIONS: Sildenafil did not decrease filling pressure at rest or during exercise in post-myocardial infarction patients with diastolic dysfunction. However, there were effects on secondary end points, which require further studies.

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.

BACKGROUND: The penetrance of hypertrophic cardiomyopathy (HCM) during childhood and adolescence has been only sparsely described. We studied the penetrance of HCM and the short- and long-term outcomes of clinical screening and predictive genetic testing of child relatives of patients with HCM. METHODS AND RESULTS: Ninety probands and 361 relatives were included in a family screening program for HCM (1994-2001). Eleven sarcomere genes, CRYAB, α-GAL, and titin were screened. Sixty-six relatives and 4 probands were <18 years of age at inclusion. Twelve child relatives were mutation carriers (age, 12 ± 5 years), and 26 had unknown genetic status, ie, relatives from families without identified mutations (n = 21) or not tested (n = 5) (age, 11 ± 5 years). Twenty-eight noncarriers (42%; age, 10 ± 4 years) served as control subjects. Two of 38 child relatives (5%) at risk of developing HCM fulfilled diagnostic criteria for HCM at inclusion. After 12 ± 1 years of follow-up, 2 of the 36 (6%; 95% confidence interval, 2-18) at-risk child relatives who were phenotype negative at inclusion had developed the HCM phenotype at 26 and 28 years of age. During follow-up, none of the child relatives experienced serious cardiac events. Participation in the screening program had no long-term negative psychological impact. CONCLUSIONS: The penetrance of HCM in phenotype-negative child relatives at risk of developing HCM was 6% after 12 years of follow-up. The finding of phenotype conversion in the mid-20s warrants continued screening into adulthood. Forty-two percent of the child relatives were noncarriers, and repeat clinical follow-up could be safely limited to the remaining children.

Serial measurements of high-sensitivity cardiac troponin T after exercise stress test in stable coronary artery disease.

OBJECTIVE: The aim was to assess serial measurements of high-sensitivity cardiac troponin T (hs-cTNT) post-exercise in patients with stable coronary artery disease (CAD). METHODS: Twelve patients with positive coronary angiograms (CAD positives) and 12 controls performed an exercise stress test. RESULTS: CAD positive had higher baseline and peak concentrations of hs-cTNT than controls. Significant increases in hs-cTNT were seen in both groups after exercise. In two-third of patients the peak in hs-cTNT was above the 99th percentile. CONCLUSION: hs-cTNT is higher in patients with stable coronary disease than in controls and exceeds the diagnostic cut-off value for myocardial infarction in a majority of patients with CAD after exercise.

Reliability of FUNDES-Child-SE - measuring participation and independence of children and youths with disabilities.

BACKGROUND: There is a need for an instrument to measure participation and independence in children with disabilities. FUNDES-Child-SE has its origin in the participation questionnaire Child and Adolescent Scale of Participation. AIMS: Test the psychometric properties of internal consistency and test-retest reliability. MATERIAL AND METHODS: This cross-sectional study included caregivers of 163 children with disability aged 6-18 years, 59 of whom were also included in the test-retest study. Descriptive statistics were used to evaluate the proportions of valid ratings. Internal consistency and test-retest reliability were tested through Cronbach's alpha and the intra-class correlation coefficient. RESULTS: The amount of not relevant/not applicable ratings was substantial but varied between items and subdomains. Internal consistency was acceptable (0.8-0.95), and the test-retest was marginal to excellent (0.73-0.95). CONCLUSIONS: The reliability together with the content validity support the use of the FUNDES-Child-SE to measure participation and independence in children with disabilities. However, results should be interpreted with caution due to the small sample size and possible selection bias. Modifications to reduce the not relevant/not applicable responses should be investigated together with the instrument's responsiveness. SIGNIFICANCE: FUNDES-Child-SE can be used to facilitate a discussion of participation and independence and to plan interventions in a habilitation setting.