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Summary The study consisted in collecting and analysing data from 15 dialysis centres on referral modalities of 1,137 patients with end-stage renal failure starting renal replacement therapy. All the centres in question had implemented PFA Patient Flow Analysis®, a management programme for pre-dialysis care from Baxter designed to help improve the collection of data on dialysis patients, from the first visit to a centre through to the start of renal replacement therapy. The aims of the study were threefold: a) describe patient referral modalities and the eligibility of patients for renal replacement treatment; b) determine how many early referrals (ERs)* and late referrals (LRs)* have a permanent PD (Peritoneal Dialysis) or HD (Haemodialysis) access at the first treatment; c) for the main outcomes (permanent access at the first treatment and permanent dialysis treatment), compare the performance of centres that offer enhanced education with those that do not. The main characteristics (sex and age) of ERs (54%) are comparable to those of LRs. However, ERs generally have greater access to PD or the opportunity to choose the dialysis treatment. The vast majority (86%) have permanent access at the first dialysis treatment and a large number (44%) have PD as permanent dialysis treatment. Centres with structured pre-dialysis educational programmes experience a larger number of ERs, therefore ensuring better outcomes. For example, 66.3% of patients at centres with structured pre-dialysis educational programmes (compared to 48.2% at centres without enhanced education) start the dialysis treatment with permanent access; and more patients (40% vs. 22%) receive permanent PD.

The “ABCD” mnemonic to assist non-experts’ diagnosis of melanoma is widely promoted; however, there are good reasons to be sceptical about public education strategies based on analytical, rule-based approaches – such as ABCD (i.e. Asymmetry, Border Irregularity, Colour Uniformity and Diameter). Evidence suggests that accurate diagnosis of skin lesions is achieved predominately through non-analytical pattern recognition (via training examples) and not by rule-based algorithms. If the ABCD are to function as a useful public education tool they must be used reliably by untrained novices, with low inter-observer and intra-diagnosis variation, but with maximal inter-diagnosis differences. The three subjective properties (the ABCs of the ABCD) were investigated experimentally: 33 laypersons scored 40 randomly selected lesions (10 lesions × 4 diagnoses: benign naevi, dysplastic naevi, melanomas, seborrhoeic keratoses) for the three properties on visual analogue scales. The results (n=3,960) suggest that novices cannot use the ABCs reliably to discern benign from malignant lesions. Key words: ABCD; non-analytical reasoning; pattern recognition; skin cancer; melanoma; dermatology diagnosis.

The dose of recombinant human erythropoietin (r-HuEpo) required to correct anemia of end-stage renal disease varies among patients. The possible factors that interfere with the responsiveness to r-HuEpo were not completely known. In 32 patients on regular hemodialytic treatment with marked anemia (Hb 5.6 +/- 0.7 g/dl), we evaluated circulating erythroid progenitor cells [burst-forming-unit erythroid (BFU-E)], erythropoietin, ferritin, folate and 1-84-parathormone levels before r-HuEpo therapy. In 12 patients, the aluminum levels after deferoxamine were also evaluated. The possible correlation between these factors and the response to r-HuEpo therapy was then evaluated. The number of circulating (c) BFU-E was highly variable (521 +/- 447 colonies/ml of blood; normal level 742 +/- 192) and does not correlate with erythropoietin, ferritin, folate, 1-84-parathormone or aluminum levels. A direct correlation between basal cBFU-E and the responsiveness to r-HuEpo therapy was recorded while no correlation was found with the other analyzed parameters. We hypothesized that low basal cBFU-E (interleukin-3 deficiency?) could reduce the response to r-HUEpo because of failure of this hematopoietic stem cell compartment to replenish the pool of more mature erythropoietic progenitor cells during the phase of accelerated maturation induced by r-HuEpo.

Recent evidence suggests that injury to the renal vasculature may play an important role in the pathogenesis of both chronic and acute ischemic kidney injury. Early alterations in peritubular capillary blood flow during reperfusion have been documented and associated with loss of normal endothelial cell function. In addition, ischemia induces alterations in endothelial cells that may promote inflammation and procoagulant activity, thus contributing to vascular congestion. Reduction of the microvasculature density increases hypoxia-mediated fibrosis and alters proper hemodynamics, which may lead to hypertension. This may play a critical role in the progression of chronic kidney disease following initial recovery from ischemia/reperfusion-induced acute kidney injury. The turnover and replacement of endothelial cells is therefore an important mechanism in the maintenance of vascular integrity also in the kidney. It is becoming clear that impaired vascular repair mechanisms as a result of a reduced number and/or impaired function of endothelial progenitor cells may contribute to renal disease. Moreover, investigators have begun to identify potential mechanisms responsible for the loss of function of endothelial progenitors in renal disease. In allografts, persistent injury results in excessive turnover of graft vascular endothelial cells. Moreover, chronic damage elicits a response that is associated with the recruitment of both leukocytes and endothelial progenitors, facilitating an overlapping process of inflammation and angiogenesis. In conclusion, angiogenesis and endothelial cell turnover play a pivotal role in renal disease and allograft rejection. Manipulation of these processes might have important implications for the development of novel therapeutic strategies in the near future.

Upregulation of the receptor for advanced glycation end products (RAGE) may play a crucial role in neointimal formation upon vessel injury. The −374T/A variant of the RAGE gene promoter, which has been associated with an altered expression of the cell-surface receptor, could exert a protective effect toward the development of vascular disease. The aim of this study is to determine the impact of this common genetic variant in the occurrence of clinical in-stent restenosis after coronary stent implantation. The −374T/A polymorphism of the RAGE gene promoter was evaluated by PCR-RFLPs in 267 patients with coronary artery disease who underwent coronary stent implantation and a subsequent coronary angiography 6–9 months later for suspected restenosis. In-stent restenosis was assessed by means of quantitative angiography. Carriers of the-374AA genotype showed a significantly reduced risk of developing restenosis after percutaneous transluminal intervention than non-carriers. To determine whether the protective effect of the homozygous AA genotype toward clinical restenosis was independent of potential confounders, we performed multivariable logistic regression analysis. After allowance for clinical and biochemical risk factors and stent length, the AA genotype remained significantly associated with a reduced prevalence of in-stent restenosis. No relation was evident between the RAGE genotype and established cardiovascular risk factors. In conclusion, the −374AA genotype of the RAGE gene promoter could be associated with a reduced risk of in-stent restenosis after coronary stent implantation.

Background It is possible to consider microcirculation as a kind of “witness” of the complex biological reactions triggered by the dialytic treatment. The reactivity of microcirculation to the dialytic stress may represent a measure of the overall biocompatibility of the membrane. In this study we tested the hypothesis that different synthetic membranes may have different biological effects, particularly related to microcirculation. Subjects and Methods In this crossover study, we observed 16 chronically hemodialyzed patients. All patients were treated with the EVAL membrane; we recorded the TcPO2 during the second treatment of the week. All patients were then switched to the hf-PS membrane. During the study observation we did not change the dialytic prescription or the pharmacologic treatment. Results From the beginning of the session until 90', the behavior of TcPO2 is similar for both the membranes. From 120' to the end of the treatment in sessions with the EVAL membrane, the TcPO2 values come back to the starting level, whereas in the treatments with hf-PS the TcPO2, the values remain at a lower level; there was a significant difference between EVAL and hf-PS in the values recorded. Arterial blood gas values of paO2 and paCO2 are quite similar in the treatments with both the membranes, without any significant difference. Conclusions The analysis of microcirculation by means of TcPO2 measurement is a useful tool to obtain a “clinical” measure of biocompatibility of the dialytic treatment and different membranes may have different impacts on TcPO2.

The aim of this multicenter, quantitative, observational study was to analyze compliance and re-training needs of patients on peritoneal dialysis (PD) through the assessment of patient knowledge (with a Patient Questionnaire; phase 1) and patient behavior (home visit with a Score Card; phase 2). A total of 353 patients from 11 Italian centers participated in the first phase and 191 patients from nine centers in the second phase. Overall, 66% of questions on the Patient Questionnaire were answered correctly. Correct answers were more frequent in females than males, in patients under 55 years of age, and in those with higher education. The lowest rate of correct answers involved questions related to diet and physical activity (67% and 51%, respectively). Data collected during the home visit showed that 25% of patients were partially compliant with their drug therapy. Twenty-three percent of patients were non-compliant with the exchange protocol procedures, with a significant association between compliance and the incidence of peritonitis, and 11% were non-compliant with the exit-site protocol procedures without a statistically significant correlation to peritonitis. By combining the two evaluations, we found that approximately one-third (29%) of patients needed reinforcement of knowledge and ability to correctly perform PD as related to infection control and 27% for the correct use of drugs. Looking at the combined evaluation of infection control and drug use, results showed that 47% of patients needed re-training. This need for re-training was greater for younger patients (less than 55 years old), patients with lower education degree and patients in the early or late phase of PD therapy (less than 18 months or more than 36 months). Gender and degree of autonomy had no effect on the need for re-training.

Patient education approaches are currently derived from a biomedical 'acute' model characterized by the sequence of health, disease, and recovery resulting from our professional intervention. Unfortunately, this model proves to be totally inadequate when applied to a chronic disease such as kidney failure. Our patients never fully regain their health and may continue to worsen under our care, even after many state-of-the-art treatments. The solution is represented in acquiring a new professional identity, shifting from the 'biomedical' acute model to a 'bio-psycho-social-educational model'. Within this model, a Therapeutic Education approach in predialysis has been proven to provide both short- and long-term positive results for renal patients. There is a tremendous difference between the learning processes in children and adults and two different sciences have already been described. 'Pedagogy' deals with child learning and 'Andragogy' with adult learning. Nevertheless, when the learner is a patient with a chronic disease, we believe that new considerations must be taken into account. We propose to create a novel science and to call it 'Nosogogy', derived from the ancient Greek word (see text), meaning 'disease'. Nosogogy could be defined as the science of teaching adults affected by chronic disease. The new educator is someone deeply involved in renal care who knows and understands the characteristic conflicts and dynamics that arise in the renal patient, and possesses adequate communication skills to deal with him. In our experience, we prefer to have educational sessions run by nephrologists and nurses who have great experience in the field.

Danon disease, an X-linked cardioskeletal myopathy caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2), is clinically characterized by cardiomyopathy, myopathy, and variable mental retardation. The pathological hallmark of the disease is the absence of LAMP-2 immunohistochemical staining in muscle. The LAMP-2 gene mutations reported thus far are generally private mutations. We describe two cases of Danon disease with different clinical presentation, in whom we identified the same exon skipping mutation c.928G>A in the LAMP-2 gene. The first patient was affected by an early onset myopathy and hypertrophic cardiomyopathy (HCM) that partially improved with drug treatment. A first muscle biopsy at age 4 months showed markedly increased glycogen, and acid maltase deficiency was ruled out biochemically. A second muscle biopsy, performed at age 3(1/2) years, showed very mild abnormalities. The second child at age 15 years had mild, diffuse muscle weakness and wasting, moderate mental deficiency, and HCM. Two serial biopsies performed at age 8 and 15 years showed similar findings of multiple esterase-positive vacuoles in type I myofibers. In both patients the immunohistochemical study demonstrated the absence of LAMP-2 in skeletal muscle.

Data on referral patterns of patients with end-stage renal failure starting renal replacement therapy were collected. The participating centres used the PFA Patients Flow Analysis (R) software programme, a Baxter tool designed to help improve data collection on dialysis patients from their first visit to the centre to the start of renal replacement therapy.Data were collected on 1137 patients from 15 dialysis centres, mainly in northern Italy, with the aim of describing a) their referral modalities; b) their eligibility to renal replacement treatments; c) the number of early and late referrals utilising a permanent PD (Peritoneal Dialysis) or HD (Haemodialysis) access at the first treatment.Early Referrals (ERs) (54%) are comparable in terms of their main characteristics (sex and age) to Late Referrals (LRs) but they have wider access to a PD or to the opportunity of choosing their dialysis modality. The majority (89%) of all ERs, have a permanent access at the first dialysis treatment and a larger number (44%) have a PD as permanent dialysis treatment. Centres with structured pre-dialysis educational programmes achieve better outcomes: 66.3% patients vs. 48.2% without enhanced education start the dialysis treatment with a permanent access and more patients (40% vs. 22%) receive a permanent PD.Comparing centres with and without timely structured educational interventions seems to confirm the effectiveness of such education on the outcomes of ESRF patients.

A girl affected by a restrictive cardiomyopathy with neuromuscular involvement is described. Morphological examination showed a pattern of multicore myopathy and with electron microscopy a sarcoplasmic accumulation of electron dense granular and filamentous material was demonstrated both in skeletal muscle and heart. This peculiar electron dense material corresponded to increased desmin in muscle and cardiac fibres and was demonstrated immunohistochemically.

The stent has demonstrated to be a useful device in the prevention of postangioplasty coronary restenosis and it is expected to have a favourable effect as an alternative or complementary treatment of stenotic lesions in arteries or veins associated with congenital defects. The aim of this study is to analyze our experience in this setting.From February 1992 to March 1996, 28 stenting procedures were performed in 26 patients (mean age: 8.6 +/- 0.7 years; mean weight: 26.2 +/- 3 kg). In 12 patients, stenting was single, and a iliac Palmaz stents were always used. Stenting location was: pulmonary artery branches in 17 patients, right ventricular outflow in 2 patients, in the junction of right atrium with pulmonary artery in 2 patients, systemic veins in 2 patients and in post Mustard intratrial channel stenosis in 2 patients. 25 patients had previously undergone at least one surgical procedure.The stenotic diameter of the treated lesions increased significantly after the procedure (4.4 +/- 0.3 mm before stenting vs 11.6 +/- 0.3 mm after stenting, p0.0001) and the transtenotic gradient decreased from 38.1 +/- 5 to 12 +/- 3.8 mmHg. Those changes were associated with a diminution of right ventricular pressure (81.6 +/- 3 vs 56.7 +/- 6 mmHg, p0.0001) in patients with pulmonary branch stenosis without septal defects. There was no mortality among the percutaneously treated patients and only one patient needed surgery. Nevertheless, one patient died after bilateral intraoperative stenting.The treatment of proximal or distal stenotic lesions in the pulmonary tree, systemic veins, and obstructed intraatrial channels with stents, can replace or complement conventional balloon angioplasty. It also offers a useful and effective alternative to surgery, when it is impossible or carries a risk.

Since the first clinical application of transcatheter closure technique for patent ductus arteriosus in children and infants in 1977 by Rashkind and Coll., this technique is routinely performed only in a few major Pediatric Cardiology Centers. We report our successful series which is the first of its kind both in Italy and in Southern Europe. The series included 11 children aged 1.6 to 10 years (mean age 4.5 years) all affected with patent ductus arteriosus (PDA). Subaortic stenosis (1) and ventricular septal defect with pulmonary stenosis (1) were associated anomalies. In all of the cases, after the standard percutaneous cardiac catheterization, the Mullins method was attempted to advance and deliver the Rashkind PDA double-disk occluder. Successful closure was accomplished in 10 while almost complete closure was achieved in the 11th. Normal Doppler flow pattern after the procedure confirmed the successful results. No complications occurred. Although our experience is limited, non-surgical PDA closure provided an excellent alternative to surgical procedure.

Two patients with Multiple Lentiginosis (ML) had hypertrophic cardiomyopathy with severe obstruction of the right and left ventricular outflow tracts. ML is a rare syndrome in which there is a typical skin pigmentation disorder together with various other abnormalities like slight mental retardation, sensorineural deafness, genital and skeletal anomalies and sometimes a characteristic facies. Obstruction of the right ventricular outflow tract is frequent in such patients. The association of ML and obstructive hypertrophic cardiomyopathy has been recently reported. A critical examination of the literature in addition to our clinical observations suggests that the biventricular obstructive hypertrophic cardiomyopathy may play a major role in the clinical feature of ML syndrome.

Before Mustard's operation 27 children, from 2 days to 11 months old, with simple or complex transposition of the great vessels, underwent an electrocardiogram at rest. After operation, all the children underwent a standard electrocardiogram and 24 hours continuous Holter monitoring. Successive electrocardiograms at rest were recorded in all patients, and eleven children were successfully examined by dynamic electrocardiogram. The electrocardiogram at rest showed a sinusal rhythm in 66.7 of the patients; during the follow-up, in 33.3% non sinusal rhythm was recorded. The continuous 24 hours dynamic electrocardiogram, immediately after surgery, revealed 25.9% of the patients with non-sinusal rhythm. After 7 months, the Holter monitoring showed, in one case, a severe sinus node disfunction. Our data and those of the literature confirm the importance to follow these patients during a long period of time, because it was found that, even bedately, can develop serious arrhythmias.

Seven patients with hemodynamic and angiocardiographic diagnosis of supravalvular aortic stenosis were studied by single plane echocardiography. 3 patients had the hypoplastic and 3 the "hourglass" type of the disease. 3 patients underwent surgical repair of the malformation, with postoperative echocardiographic control. There was no relationship between the lumen dimension variations as measured by echocardiography and the transtenotic pressure gradient. With respect to angiocardiography, echocardiography underestimates the severity of the disease. The method was always diagnostic, but the anatomic type of stenosis could not be determined. The severity of the disease can be only indirectly assessed by evaluating left ventricular hypertrophy induced by pressure overload.

The surgical approach to relief of mitral stenosis in children is still a controversial problem. We describe our experience with four severely symptomatic children in whom a valved conduit from the left atrium to the left ventricle was successfully used to bypass a hypoplastic systemic atrioventricular valve. A left atrial-left ventricular extracardiac conduit was implanted in these patients with a hypoplastic mitral anulus and an adequate left ventricular chamber. There were no early or late deaths. Postoperative cardiac catheterization performed in all patients 1 month after the operation showed reduced size of the left atrium, a reduction of the left atrial-left ventricular gradient from a mean of 14 mm Hg to a mean of 5 mm Hg, and an increase of the left atrial outlet from a mean diameter of 10.7 mm to 28.7 mm (including the diameter of the native mitral valve plus the internal diameter of the valved conduit). The application of this unconventional operation in children with congenital or acquired stenosis of the systemic atrioventricular valve should be considered when the mitral valve obstruction cannot be relieved by conventional valve repair or replacement. Furthermore, the left atrial-left ventricular conduit does not preclude future alternative surgical options.

A case of double aortic arch with severe congenital mitral incompetence and mild pulmonary arteries stenosis is described. A possible embriogenetic explanation of the anomaly is discussed in the light of preferential foetal blood flows.

Bronchial compression by a dilated left pulmonary artery complicated the postoperative course in two infants: one after a Mustard operation for transposition of the great arteries, restrictive ventricular septal defect, and moderate pulmonary stenosis, the second after correction of tetralogy of Fallot with absent pulmonary valve. In both cases the bronchial compression was successfully treated by division of the left pulmonary artery and its prolongation by interposition of a conduit.

Cross-sectional echocardiographic images from 26 patients presenting pulmonary atresia with intact ventricular septum were compared with anatomical findings in specimens having the same anomaly. The echocardiographic study was based on a subcostal approach using oblique projections, and specimens were cut in the same planes. Patients were classified into three groups. In the first group the morphologically right ventricle was represented by all of its three component parts: inlet, trabecular and outlet (12 cases). The second group was made up of patients with overgrowth of the apical component. Consequently the right ventricle had only two effective components: inlet and outlet (6 cases). In the third group, muscular overgrowth of both outlet and apical portions meant that the right ventricle was represented only by an inlet portion (8 cases). The good morphologic assessment and correlation with anatomic cuts, obtained in particular by using the "right oblique equivalent" view can avoid invasive study in this malformation prior to palliative surgery.

Forty consecutive patients undergoing mitral valve replacement with a giant left atrium, form the basis of this report. Two groups could be identified: (a) isolated giant left atrium (11 cases); (b) combined left and right atrial enlargement (29 cases). Tricuspid regurgitation was only detected in the latter group. The early hospital mortality was 20% and was related to the pulmonary arterial systolic pressure. A giant left atrium increased the operative mortality from 7% to 20% among patients submitted to mitral valve replacement in our unit (p less than 0.05).

The authors describe a case of aneurysm of the non-coronary sinus of Valsalva and aortic insufficiency caused by Salmonella Tiphi in a 7 year old child. The exceptional ethiology is discussed as well as the problems connected with surgical correction.

Ninety consecutive patients with atrioventricular canal were studied to identify the association between left-sided obstructive lesions and Down's syndrome. Three groups were recognized: Group I, 76 patients with atrioventricular canal and no left-sided obstructions; Group II, nine patients with atrioventricular canal and left-sided inlet obstructions; Group III, five patients with atrioventricular canal and left-sided outlet obstructions. Of the 90 patients studied, 47 had Down's syndrome and only one of these had a left-sided obstructive lesion. Of 43 without Down's syndrome, 13 or 30% had left-sided obstructive lesions with predominating lesions at the inlet level caused by right ventricular dominance.

Compliance mismatch between prosthetic vascular replacement (possibly stented) and native artery is considered to be an important factor in implant failure due, e.g., to vascular remodeling, tissutal growth or intimal hyperplasia (IH). From an in vivo study involving altered vascular mechanics (and, consequently, compliance mismatch), carried out using the Moncada model of atherosclerosis development and smooth muscle cell (SMC) proliferation, the hemodynamic assessment was followed by means of real-time multigated ultrasound profilometry, of collared carotid artery using two different models: nonconstrictive and costrictive plastic collars, wrapped around the vessel. The experiments provided the real-time measurement of velocity profiles in vivo and the subsequent estimation of wall shear stresses, locally responsible for the altered hemodynamics. Endothelium modifications were correlated with local hemodynamic alterations by using statistical regression analysis of the development of intimal hyperplasia and the mechanical stimulus applied to the endothelium by means of the two different manipulation models. Different correlations were found between wall shear rate and IH in the two models, showing the importance of the vascular pulsatility in determining SMC proliferation. This result could be useful in minimizing the negative consequences of clinical interventions such as graft and/or stent implantation.