Sports preparticipation cardiac screening: what about children?

UNLABELLED: Sudden cardiac death in young athletes is a devastating event. Screening programs have been proposed to prevent sudden cardiac death in young athletes. Mortality rates and causes of death differ among young adults and children. Children have a considerably lower incidence of sudden cardiac death. Data lack to compare athletes and non-athletes in childhood, but 40-50 % of sudden cardiac death in this age group seems to be related to exercise. Screening programs including history and physical exam are not very sensitive or specific and will result in important numbers of false-positives and false-negatives. Especially, interpretation of ECG in children is different from ECG in adults, with less accurate diagnoses as a consequence. Secondary prevention by widespread education of simple resuscitation techniques and use of automatic external defibrillators if available will probably save as many lives as any screening program. CONCLUSION: Sufficient data are lacking to support general preparticipation screening with history, physical exam, and ECG in competitive children. Nevertheless, the impact of such a program, together with secondary preventive measures, should be evaluated in large prospective studies.

Spirometry-related pain and distress in adolescents and young adults with cystic fibrosis: the role of acceptance.

OBJECTIVE: To investigate the occurrence of spirometry-related pain and distress in adolescents and young adults with cystic fibrosis (CF), and to investigate the role of acceptance of illness in spirometry-related pain and distress. METHODS: A total of 36 adolescents and young adults with CF (12 to 22 years of age) completed a questionnaire assessing acceptance of illness. Spirometry-related distress was assessed using self-report (ie, anxiety/worry about the procedure) and physiological outcomes (ie, heart rate and heart rate variability) before spirometry. Spirometry-related pain was assessed using self-report (ie, expected pain and pain-related thoughts). Self-reported distress and pain during spirometry were also assessed. RESULTS: Eighty-nine per cent of subjects reported distress before spirometry, 67% experienced distress during spirometry, 28% expected pain during spirometry and 22% actually experienced pain. Interestingly, partial correlations revealed that more acceptance was related to less expected pain and pain-related thoughts. Acceptance, however, was unrelated to distress, anxiety and pain during spirometry. DISCUSSION: The present study suggests that a non-negligible number of adolescents and young adults with CF experience pain and distress during spirometry. Furthermore, results indicate that acceptance may play a protective role in the more indirect consequences of CF such as expected pain and pain-related thoughts during medical procedures. Acceptance, however, was not related to distress before and during spirometry, nor to experienced pain. These findings contribute to the increasing evidence that acceptance may play a protective role in managing the consequences of living with CF.

Acceptance, well-being and goals in adolescents with chronic illness: a daily process analysis.

OBJECTIVE: The main aim of this study was to investigate the relationship between acceptance and well-being in adolescents with chronic illness from a daily process perspective. Furthermore, we explored the role of daily experienced interference and facilitation of life goals by treatment goals as mediating mechanisms. METHODS: Thirty-eight adolescents with cystic fibrosis (CF) or diabetes completed questionnaires assessing acceptance, negative life events and goal-related self-efficacy. Furthermore, an online diary assessing daily mood, daily experienced interference and facilitation of life goals by treatment goals was completed during three consecutive weeks. RESULTS: Acceptance of illness was positively related to daily well-being, but unrelated to daily goal interference and facilitation. Furthermore, daily goal interference and facilitation were unrelated to same-day and next-day well-being. CONCLUSION: This study suggests that acceptance of illness plays an important role in the daily mood of adolescents with CF and diabetes. This relationship, however, was not mediated by daily experienced interference and facilitation of life goals by treatment goals. Further research is needed to determine whether interventions promoting acceptance are beneficial for adolescents with CF and diabetes.

Acceptance and well-being in adolescents and young adults with cystic fibrosis: a prospective study.

OBJECTIVE: To prospectively investigate the role of acceptance in well-being in adolescents and young adults with cystic fibrosis (CF). METHOD: A total of 40 adolescents and young adults with CF (ages 14-22 years) completed questionnaires assessing acceptance, anxiety and depressive symptoms, physical functioning, role functioning, emotional functioning, and social functioning. After 6 months, 28 of them completed the questionnaires on anxiety and depressive symptoms, physical functioning, role functioning, emotional functioning, and social functioning a second time. RESULTS: More acceptance (Time 1) was related to less depressive symptoms (Time 1 and 2), and to better role, emotional, and social functioning (Time 1). CONCLUSIONS: Results indicate that accepting the limitations imposed by chronic disease and readjusting life goals may have a positive effect upon well-being in adolescents and young adults with CF. Further research is needed to clarify whether acceptance-based interventions are useful in promoting well-being in adolescents and young adults with CF.

The long-term outcome after severe trauma of children in Flanders (Belgium): a population-based cohort study using the International Classification of Functioning--related outcome score.

Important long-term health problems have been described after severe paediatric trauma. The International Classification of Functioning (ICF) was developed as a universal framework to describe that health. We evaluated outcome in children after 'severe' trauma (defined as: hospitalised >48 h) by means of a questionnaire based on this ICF construct (IROS). Questionnaires were sent to children; one year after this trauma and to 'control' children without any previous 'severe' trauma. We created propensity score-matched pairs (n = 133) and evaluated differences in health perception. IROS characteristics were investigated by means of Item Response Theory models. We then estimated the health state of each individual based on his/her response pattern (factor score z01) and investigated the effect of selected covariates with simple linear regression. Significant odds ratios for differences between matched groups (p < 0.05) were observed for among others emotional problems, mobility, societal life and family burden, but not for chronic pain. Children in the trauma group showed, e.g. significant more physician (estimated relative risk R' 1.7) and psychologist (R' 3.5) visits. IROS primarily provides information from medium to high health burden levels and factor scores ranged from 0.41 (lowest) to 0.967 (highest burden). A significant impact on health burden could only be proven for the 'state at discharge' (p = 0.015), although there was a tendency towards worse factor scores for children that were older, had a higher Injury Severity Score or after traffic injury. In conclusion, we showed that the burden of health problems for children and families after severe trauma is still high and physical, as well as psychosocial in nature. The health state at discharge seems to predict long-term outcome, which might be of importance in view of, e.g. trajectory assistance. IROS may provide an improved scoring system to evaluate outcome after (paediatric) injury or critical illness.

Closing the knowledge-performance gap: an audit of medical management for severe paediatric trauma in Flanders (Belgium).

AIMS: Considerable variability in (paediatric) trauma care has been reported. We wanted to audit current practice in Flanders (Belgium). METHODS: The PENTA network prospectively collected data on paediatric trauma patients in a representative sample of Flemish hospitals during 2005. All cases with an ISS>or=13 and sufficient data availability were withheld for panel evaluation (n=92). Two trained experts reviewed the medical care provided in the first hours after trauma, based on available evidence and existing universal guidelines. 'Defaults' were only withheld as such if there was 100% consensus. At random, about 25% of cases were also reviewed by two other experts in order to assess interobserver variability. RESULTS: In the 92 cases, 264 defaults were recognised. 25.4% of all defaults were thought to have a direct impact on the individual patient's outcome. Specific difficulties were observed with, e.g. cervical spine management (18/82 relevant cases), pCO2 and global respiratory management (38/92), fluid management (29/92) and analgesia (27/89). The agreement between the two panels was good for defaults identified (crude agreement 74.8%), yet only fair for the presumed impact on outcome (crude agreement 58.3%). CONCLUSIONS: We audited paediatric trauma care in Flanders and identified several problem areas (often in basic areas of paediatric life support). The inherent degree of interobserver variability does not diminish the importance of these findings. More performance-based teaching and timely recertification may have a positive impact on the quality of the care delivered.

Paediatric trauma and trauma care in Flanders (Belgium). Methodology and first descriptive results of the PENTA registry.

Paediatric injury surveillance and prevention are definite priorities for the European, Belgian, and Flemish authorities. Current available data for Flanders (Belgium) are fragmentary and out-of-date. The PENTA registry (PaEdiatric Network around TraumA) was therefore set up to obtain recent population-based data on trauma and trauma care in children and youngsters in Flanders. Data were collected prospectively in a representative sample (n = 18) of Flemish emergency departments (ED). All children (age 0-17 years) who presented at the ED in 2005 or died prehospital due to trauma were included. The registry was split into two levels. The basic A registry ('all' trauma) consisted of 30 variables, and the more exhaustive B registry ('severe trauma', defined as length of hospitalisation >48 hours, including all nonsurvivors) collected data on 291 variables. The incidence for paediatric trauma presenting at Flemish ED was approximately 119/1000/year. Further data were collected in a random sample of 7,879 cases (21.9% of 35,900 eligible patients). Of all cases, 0.8% were considered 'severe' and included in the B registry. In conclusion, the 'burden' of injury in Flanders is still enormous. PENTA provides the first population-based data about the circumstances and the extent of injury in children and youngsters for the Flemish region. In this article we present in detail the surplus value of the methods used, the difficulties encountered, and the most relevant epidemiological findings from the registry.

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder characterized by ocular, cutaneous and cardiovascular manifestations. It is caused by mutations in the ABCC6 gene (chr. 16p13.1), encoding a transmembrane transporter protein, the substrate and biological function of which are currently unknown. A comprehensive clinical and molecular study of 38 Belgian PXE probands and 21 relatives (4 affected and 17 carriers) was performed. An extensive clinical evaluation protocol was implemented with serial fundus, skin and cardiovascular evaluation. We report on 14 novel mutations in the ABCC6 gene. We observed extensive variability in severity of both cutaneous and ocular lesions. The type of skin lesion however usually remained identical throughout the evolution of the disorder, while ophthalmological progression was mainly due to functional decline. Peripheral artery disease (53%) and stroke (15%) were significantly more prevalent than in the general population (10-30% and 0.3-0.5% respectively). Interestingly, we also observed a relatively high incidence of subclinical peripheral artery disease (41%) in our carrier population. We highlight the significance of peripheral artery disease and stroke in PXE patients as well as the subclinical manifestations in carriers. Through follow-up data we gained insight into the natural history of PXE. We propose a cost- and time-efficient two-step method of ABCC6 analysis which can be used in different populations. Additionally, we created a diagnostic flowchart and attempted to define the role of molecular analysis of ABCC6 in the work-up of a PXE patient.

Impact of oxidative stress on the endothelial dysfunction of children and adolescents with type 1 diabetes mellitus: protection by superoxide dismutase?

Diabetes mellitus is associated with endothelial dysfunction and oxidative stress (OS). We investigated whether these abnormalities are interrelated in children and adolescents with type 1 diabetes mellitus (T1DM) and if early OS markers predictive of vascular dysfunction can be identified. Thirty-five T1DM patients were matched for sex, age, height, and weight with nondiabetic subjects as healthy controls (CO). Flow-mediated dilatation (FMD), carotid intima media thickness (IMT), and OS status in fasting blood were measured. Diabetic children had impaired FMD (6.68+/-1.98 versus 7.92+/-1.60% in CO, p=0.004), which was more pronounced in boys. The degree of FMD impairment was not related to the lower plasma levels of antioxidants or to the higher glucose, glycation, lipids, and peroxidation products. Erythrocyte superoxide dismutase activity, copper/zinc superoxide dismutase (Cu/Zn SOD), was higher in diabetic subjects (1008+/-224 versus 845+/-195 U/g Hb in CO, p=0.003) and was positively associated with FMD. After correcting for diabetes and gender, the subgroup of children with high Cu/Zn SOD (>955 U/g Hb) had a significantly better FMD (p=0.035). These results suggest that higher circulating Cu/Zn SOD could protect T1DM children and adolescents against endothelial dysfunction. Low Cu/Zn SOD is a potential early marker of susceptibility to diabetic vascular disease.

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Data on six patients with a Pseudoxanthoma Elasticum (PXE)-like phenotype, characterized by excessive skin folding (resembling cutis laxa) and a deficiency of the vitamin K-dependent clotting factors (II, VII, IX, and X) are presented. A comparison is made between the clinical, ultrastructural, and molecular findings in these patients and those seen in classic PXE and cutis laxa, respectively. Clinical overlap with PXE is obvious from the skin manifestations of yellowish papules or leathery plaques with dot-like depressions at presentation, angioid streaks and/or ocular peau d'orange, and fragmentation and calcification of elastic fibers in the dermis. Important phenotypic differences with PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyses revealed that alterations of elastic fibers as well as their mineralization were slightly different from those in classic PXE. Molecular analysis revealed neither causal mutations in the ABCC6 gene (ATP-binding cassette subfamily C member 6), which is responsible for PXE, nor in VKORC1 (vitamin K 2,3 epoxide reductase), known to be involved in vitamin K-dependent factor deficiency. However, the GGCX gene (gamma-glutamyl carboxylase), encoding an enzyme important for gamma-carboxylation of gla-proteins, harbored mutations in six out of seven patients analyzed. These findings all support the hypothesis that the disorder indeed represents a separate clinical and genetic entity, the molecular background of which remains to be unraveled.

Primary impairment of left ventricular function in Marfan syndrome.

BACKGROUND: Cardiovascular involvement in Marfan syndrome is mainly characterized by progressive dilatation of the proximal aorta. Whether left ventricular dysfunction is present in these patients is not clear at present. OBJECTIVES: Assess left ventricular function in patients with Marfan syndrome, free of significant valvular heart disease, using a combination of MRI and Tissue Doppler imaging (TDI). METHODS AND RESULTS: A total of 26 Marfan patients (mean age=32.0+/-10.9, 12 men) without significant valvular heart disease, and 26 age- and sex-matched controls were studied. Left ventricular volumes and ejection fraction were measured with magnetic resonance imaging. Systolic and diastolic function parameters were assessed using conventional echocardiography and TDI. When compared to controls, Marfan patients showed impairment of left ventricular contractile function as expressed by a reduced ejection fraction (53.5+/-9.0% vs. 59.6+/-6.7%, p=0.009), an increased end-systolic volume (36.0+/-9.5 vs. 29.5+/-6.7 ml/m(2), p=0.007), and reduced peak systolic velocities at the basal septal and lateral myocardial wall (5.2+/-1.4 vs. 6.4+/-1.3 cm/s, p=0.003 and 6.0+/-2.2 vs. 7.5+/-2.3 cm/s, p=0.03, respectively). Diastolic function was impaired with an increased deceleration time of the E wave (171+/-41 ms vs. 141+/-36 ms, p=0.006). Peak early diastolic velocity at the mitral valve annulus was significantly lower (9.6+/-2.4 cm/s vs. 11.9+/-3.3 cm/s, p=0.006). CONCLUSION: These data provide evidence for mild, but significant impairment of left ventricular systolic and diastolic function in Marfan patients, not related to valvular heart disease.

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects.

In the last decades, a large variety of oxidative phosphorylation (OXPHOS) defects have been reported, expressed as an increasing variety of clinical phenotypes. With the expanding number of genes and proteins involved, new screening techniques leading to more effective diagnostic routes are in ever-increasing demand. Cultured skin fibroblasts from a cohort of patients with various OXPHOS defects, previously recognized by enzyme activity studies and blue native PAGE, were investigated with an immunocytochemical technique. Cytospins of cultured fibroblasts were air dried, fixed, and stained with antibodies specifically directed against subunits of each OXPHOS complex. Control cells stained homogeneously and strongly. In fibroblasts from five out of seven patients with a severe deficiency of one of the OXPHOS complexes, a homogeneous reduction of cytoimmunoreactivity of the affected complex was observed. In five out of seven fibroblast strains harboring a mitochondrial tRNA mutation, a mosaic pattern of staining was observed for both complexes I and IV, reflecting the heteroplasmic nature of the defect. The proportion of deficient fibroblasts varied considerably between cell strains from different subjects. The method described offers a convenient and rapid approach to first-line screening of OXPHOS defects. In association with routine assays of enzyme activity, the technique is helpful in orienting molecular investigation further.

The relationship between peak height velocity and physical performance in youth soccer players.

Longitudinal changes in height, weight and physical performance were studied in 33 Flemish male youth soccer players from the Ghent Youth Soccer Project. The players' ages at the start of the study ranged from 10.4 to 13.7 years, with a mean age of 12.2 +/- 0.7 years. Longitudinal changes were studied over a 5 year period. Peak height velocity and peak weight velocity were determined using non-smoothed polynomials. The estimations of peak height velocity, peak weight velocity and age at peak height velocity were 9.7 +/- 1.5 cm x year-1, 8.4 +/- 3.0 kg x year-1 and 13.8 +/- 0.8 years, respectively. Peak weight velocity occurred, on average, at the same age as peak height velocity. Balance, speed of limb movement, trunk strength, upper-body muscular endurance, explosive strength, running speed and agility, cardiorespiratory endurance and anaerobic capacity showed peak development at peak height velocity. A plateau in the velocity curves was observed after peak height velocity for upper-body muscular endurance, explosive strength and running speed. Flexibility exhibited peak development during the tear after peak height velocity. Trainers and coaches should be aware of the individual characteristics of the adolescent growth spurt and the training load should also be individualized at this time.

Impact of waiting on the perception of service quality in nuclear medicine.

BACKGROUND: This is the first study examining the link between waiting and various dimensions of perceived service quality in nuclear medicine. METHODS: We tested the impact of selected waiting experience variables on the evaluation of service quality, measured using the Servqual tool, of 406 patients in nuclear medicine, with objective and subjective waiting times as co-variates. The sequence of events in service delivery in nuclear medicine (waiting time before injection, waiting time before scanning and total waiting time) is taken into account. RESULTS: Patients underestimated the waiting time before injection and the total waiting time, while overestimated the waiting time before scanning. Our results show that the total subjective waiting time has more impact on the reliability dimension (R2(adj)=0.148) than on the other service quality dimensions of Servqual. Providing information about the reasons for delay had a significant main effect on the perception of reliability (F=9.64, P=0.02). CONCLUSIONS: The study stresses the importance of explaining the causes for delay to increase patients' perceptions of reliability of the nuclear medicine department and contains several findings that should assist service managers to formulate more effective waiting perception strategies.

Combined amino-acid and glucose peritoneal dialysis solution for children with acute renal failure.

Peritoneal dialysis (PD) solutions with amino acids (AAs) were developed as an alternative to glucose-based PD solutions for chronic renal failure. Although AA solution has many theoretical advantages, the results reported in the literature are still not convincing. Treatment of ARF is a complex problem. To tackle it, we investigated a PD solution based on a mixture of Nutrineal (Baxter Healthcare SA, Castlebar, Ireland) and Dianeal (Baxter Healthcare SA), mixed on the heating plate of the PAC Xtra cycler (Baxter Healthcare SA). The resulting solution was expected to lower the glucose load without affecting dialysis adequacy. We retrospectively analyzed data in children treated with the mixture, and evaluated safety, dialysis adequacy, acidosis, and nutritional state (albumin). Glucose reabsorption and protein losses were significantly lower when mixed AA-glucose solution was used. Despite significant AA absorption in the patients, we observed no significant difference in plasma albumin levels. Reabsorption from the dialysate of AAs varied between 21% and 69%, resulting in 27% +/- 12% of daily AA intake. Reabsorption of glucose from the dialysate was 32% - 72%. In children in intensive care, who are often already very sensitive, an AA-containing mixture may help to control glycemia, subsequently reducing the need for insulin. Our data demonstrate that the calculated percentage reabsorption of glucose and AAs is high and that AA levels in plasma remain stable. Although our data do not demonstrate a potential influence on final outcome, they demonstrate the feasibility and safety of using combined AA-glucose solution, with a calculated resorption that lends nutritional support.

Female children and adolescents with type 1 diabetes have more pronounced early echocardiographic signs of diabetic cardiomyopathy.

OBJECTIVE: This study was designed to assess whether children and adolescents with type 1 diabetes have early echocardiographic signs of subclinical cardiac dysfunction and whether sex, state of metabolic control, and diabetes duration are of influence. RESEARCH DESIGN AND METHODS: Systolic and diastolic blood pressure in supine and upright positions and echocardiographic parameters, including tissue Doppler measurements of the septal mitral annulus, were evaluated in 80 children and adolescents with stable type 1 diabetes and 52 age- and sex-matched control subjects. A possible correlation was examined for age, sex, HbA(1c), and diabetes duration with univariate and multivariate regression analysis. RESULTS: Female diabetic patients showed significantly larger left ventricular wall dimensions (left ventricular posterior wall in diastole 0.54 +/- 0.08 vs. 0.48 +/- 0.11 cm) and signs of significant diastolic filling abnormalities on conventional and tissue Doppler echocardiography (mitral valve-atrial contraction velocity 0.47 +/- 0.12 vs. 0.40 +/- 0.09 m/s; tricuspid valve-atrial contraction velocity 0.35 +/- 0.09 vs. 0.30 +/- 0.07 m/s; early filling velocity/myocardial velocity during early filling 7.15 +/- 1.47 vs. 6.17 +/- 1.07; isovolumetric relaxation time [IVRT] 66 +/- 8 vs. 58 +/- 8 ms) compared with female control subjects, suggesting delayed myocardial relaxation. Male diabetic patients only differed significantly from their control subjects for IVRT (66 +/- 9 vs. 59 +/- 8 ms). The measured parameters showed an expected correlation with age and BMI standard deviation scores in the control group. This correlation was significantly weaker in the diabetic population; only a weak influence was found for diabetes duration and glycosylated hemoglobin levels. CONCLUSIONS: Young diabetic patients already have significant changes in left ventricular dimensions and myocardial relaxation, with the girls clearly being more affected. Tissue Doppler proved to have additional value in the evaluation of ventricular filling in this population. Almost no correlation was found for diabetes duration and HbA(1c) with the cardiovascular changes.

Outcome analysis of major cardiac operations in low weight neonates.

BACKGROUND: From June 1995 to January 2003, 49 consecutive neonates of less than 2,500 g underwent early surgery for congenital heart disease. A retrospective analysis was performed to evaluate the early to medium term outcome. METHODS: Major cardiac surgery for congenital heart defects included a complete correction in 31 patients (group I) and a palliative procedure in 18 patients (group II). Mean age at operation was 15.2 days (1 day-90 days) and mean weight was 2,190 g (1,300 g-2,500 g). Twenty-four children (49%) were born prematurely. All neonates were critically ill and 47% were already ventilated preoperatively. Heart defects included mainly ventricular septal defect (10), tetralogy of Fallot complexes (8), aortic coarctation (8), transposition complexes (7), single ventricle anomalies (4), pulmonary atresia with intact septum (4), interrupted aortic arch (3), totally anomalous pulmonary venous return (3), and common atrioventricular septal defect (2). RESULTS: Overall surgical mortality was 18%: 4 neonates died after definitive repair and 5 after palliation; representing, respectively, 13% and 28% of each group. Postoperative morbidity occurred in half of the patients (53%). Age, weight, prematurity, type of first surgical procedure, and use of cardiopulmonary bypass did not influence the early outcome. After a mean follow-up of 2.82 years (2 months to 6 years), survival was 87% in the correction group and 54% in the palliation group. All children were in NYHA class I-II. Freedom from reintervention at 18 months was 68% after correction versus 8% after palliation. CONCLUSIONS: Cardiac surgery for congenital malformations in critically ill, low weight neonates can be achieved with acceptable mortality, at the cost of an increased morbidity. Early outcome seems independent of age, weight, prematurity, use of extracorporeal perfusion, and type of first intervention. Moreover, primary correction appears to result in an early survival benefit, remaining constant over time.