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Background The lack of epidemiological and clinical data is a major obstacle in health service planning for rare diseases. Patient registries are examples of real-world data that may fill the information gap. Objective We describe the Rare Disease Registry of the Friuli Venezia Giulia region of Italy and its potential for research and health planning. Methods The Rare Disease Registry data were linked with information on mortality, hospital discharges, ambulatory care, and drug prescriptions contained in administrative databases. All information is anonymous, and data linkage was based on a stochastic key univocal for each patient. Average annual costs owing to hospitalizations, outpatient care, and medications were estimated. Results Implementation of the Registry started in 2010, and 4250 participants were registered up to 2017. A total of 2696 patients were living in the region as of January 1, 2017. The overall raw prevalence of rare diseases was 22 per 10,000 inhabitants, with higher prevalence in the pediatric population. The most common disease groups were congenital malformations, chromosomal and genetic syndromes, and circulatory and nervous diseases. In 2017, 30 patients died, 648 were hospitalized, and 2355 received some type of ambulatory care. The total annual estimated cost was approximately €6.5 million, with great variability in the average patient cost across diseases. Conclusions The possibility of following the detailed real-world care experience of patients with each specific rare disease and assessing the costs related to each step in their care path represents a unique opportunity to identify inefficiencies, optimize care, and reduce waste of resources.

to describe frequency, characteristics, and consequences of intentional injuries due to interpersonal violence visited at the Emergency Rooms of Udine and Cividale del Friuli (Friuli Venezia Giulia Region, North-Eastern Italy).analysis of the administrative database of the Emergency Department.in the two Emergency Departments of Udine and Cividale del Friuli, serving a 250,000-inhabitant area, all the visits due to injuries from interpersonal violence in the years 2015-2017 were analysed.number of visits because of injuries from interpersonal violence, distribution of demographic characteristics of patients, of characteristics of the events (place of occurrence, mechanism, relation with patient's occupation, involvement of persons known to the victims), of consequences (discharge diagnosis, Emergency Department management times).in three years, 1,741 visits of violence victims were recorded in the Emergency Department of the Udine area; 8.7% of patients were assigned a triage yellow tag and 1.0% a red tag. Almost one third of victims were non-Italian citizens; 14.2% of events were work-related; more than one third occurred in the home; in one third of cases, the aggressor was known to the victim; 96 people were diagnosed with fractures. The average time from start of medical care and Emergency Room discharge ranged from half an hour among white triage tags to more than three hours among yellow tags. More than 100 people experiences more than one violent episode.this is the first description of frequency, characteristics, and health impact of violence in the area of Udine, providing information useful for a targeted prevention. It also highlights the central role of the Emergency Department not only for the registration of the phenomenon, but also for the management of the acute episodes and for the prevention of recurrent events.

To assess the sensitivity of hospital discharge diagnoses for identifying sepsis in patients with blood culture confirmation.A cross-sectional study was conducted at the Italian 1000-bed University Hospital of Udine. The administrative databases of the Hospital were used as the source of information. Laboratory data were linked with hospital discharge data. We estimated the proportion of hospitalizations with at least 2 positive blood culture tests in which at least one discharge diagnosis indicated bloodstream infection.From 2011 to 2017, 3571 hospitalizations (1.2%) had positive blood culture tests. Of them, only 49.5% had at least one ICD-9-CM discharge diagnosis code of sepsis, with lower proportions in surgical than in medical wards.The sensitivity of ICD-9-CM discharge codes for sepsis is low as compared with the blood culture gold standard. Using discharge codes for epidemiological estimates of sepsis, health planning and risk management may yield biased results. Audits and ICD coding training are needed.

to describe the use of proton pump inhibitors (PPI) and ranitidine in the general population living in the area of the Healthcare Authority and University of Udine (Friuli Venezia Giulia, Northeastern Italy) and to evaluate whether there are any cases of co-prescription of medications in those classes.analysis of health-related administrative databases (list of potential healthcare beneficiaries, prescriptions of medications, exemption from medical charges because of chronic conditions, list of general practitioners).population of the Italian area of the Healthcare Authority and University of Udine (approximately 250,000 inhabitants) ≥1 year of age as of January 1st, 2016.prevalence of PPI or H2RA use (1 prescription in 2016), overall and stratified by drug, age class and sex; duration of the theoretical period covered by prescriptions; prevalence of co-prescriptions; association of co-prescriptions and clinical and demographic characteristics of patients (odds ratio and 95% confidence intervals).in 2016, 162 persons per 1,000 used those medications; in particular, 158/1,000 used PPIs. Prevalence of use increased with age, as did the median treatment duration with PPIs. Co-prescription of two medications of the same class were observed in 0.43% of antacid users. The likelihood of receiving co-prescriptions was higher among non-elderly subjects, long-term PPI users, and those with chronical diseases, such asthma.in the considered Italian area, PPIs and ranitidine were frequently used, although less than in the rest of Italy. We observed occasionally non-recommended practices, such as the co-prescription of different medications of the same class or with the same indications.

BACKGROUND. Patient referrals to outpatient health services may affect both health outcomes and health expenditures. General practitioners (GP) have a crucial role in driving the use of outpatient services and recognizing factors which affect referrals is important for health managers and planners. OBJECTIVES. We investigated patient- and physician-related determinants of patient referrals in an Italian region. METHODS. This was cross-sectional study based on the individual linkage of administrative databases from the health information system of the Friuli Venezia Giulia region. For each GP of the region, the association of the number of patient referrals to different types of outpatient services with the proportion of patients with chronic conditions, with the number of hospital admissions and drug prescriptions in 2012, and with GP's characteristics was investigated through multilevel multivariable Poisson regression models. RESULTS. Some chronic conditions (e.g., cancer, autoimmune diseases, endocrine diseases, digestive system diseases) were positively associated with the number of referrals, as were hospital admissions and drug prescriptions. Time since GP's graduation was inversely related with referrals. CONCLUSION. Patient complexity and GP's experience affect referral rates. These factors should be considered in case of a reorganization of the general practice structure in Friuli Venezia Giulia.

The relative effects of prenatal and postnatal low-level mercury exposure and fish intake on child neurodevelopment are still controversial. Limited evidence is available from Mediterranean populations. In this prospective study, we measured the Verbal and Performance IQ in Italian children at school-age who were resident in an area declared as a National contaminated site because of mercury pollution, taking into account the possible beneficial effect of fish consumption and potential confounders. A mother-child cohort made up of 242 children was established at birth in Northeastern Italy in 2001. Their mothers were interviewed approximately 2 months after delivery to determine type, quantity, and origin of fish consumed during pregnancy and about a number of mother, child and family characteristics. Total mercury (THg) and methyl mercury (MeHg) were assessed in maternal hair and breast milk and in the child's hair. When children reached 7-9 years of age, 154 (63.6%) parents gave consent to participate in a follow-up evaluation. On that occasion, a child's hair sample was collected to determine the current concentration of THg, mothers were asked to complete a self-administered questionnaire, and children underwent neuropsychological testing. Verbal IQ, performance IQ and full scale IQ were measured by the Wechsler Intelligence Scale for Children (WISC III) administered by psychologists at school or local health centers. Demographic, socioeconomic and lifestyle information, medical information of the child's family and the child's dietary habits were collected using a questionnaire filled in by mothers. Multivariable linear regression models were used to evaluate the association between prenatal THg exposure through fish consumption of mothers in pregnancy and children's IQ after adjustment for possible confounders such as fish consumption of mothers in pregnancy, child's fish consumption at follow-up, child's birthweight, maternal cigarette smoking during pregnancy, house size and property place of residence during pregnancy and gender. THg in the child's hair at 7 years of age was fairly correlated with THg in maternal hair at delivery (rs=0.35; p

Life expectancy of patients with glycogen storage disease (GSD) type I has improved considerably, opening new problems correlated with adult age. In females polycystic ovaries (PCOs) has been described as frequently associated with the disease, however successful pregnancies have been reported. Whether or not GSD I is associated with impaired reproductive function is still unclear.Data about female patients with GSD Ia and Ib, who were 16 years or older, were obtained from clinical records and interviews.A total of 32 women with GSD I (25 GSD Ia, 7 GSD Ib), median age 26 years (range 16-55), were included. 9/32 patients had delayed menarche, 17/32 had irregular cycles, 8/22 had documented polycystic ovaries. Five successful spontaneous pregnancies in four patients with GSD Ia and two in a woman with GSD Ib were reported. The latter had development and enlargement of hepatic adenomas during pregnancies.Despite the high prevalence of irregular menstruation cycles and polycystic ovaries, fertility seems not to be impaired in women with GSD I. During pregnancy monitoring for adenoma development is mandatory.

Osteopenia is described as a relevant sign of bone involvement in Gaucher disease (GD) both in pediatric and adult patients. Furthermore, abnormal bone metabolism is considered to play a role in growth and pubertal delay. To analyze the long-term effect of enzyme replacement therapy (ERT) on bone mineral density (BMD), a retrospective observational study was conducted in a cohort of 18 GD pediatric patients (13 males, 5 females; median age 9.2 years). They received biweekly infusions of 20-60 IU/kg of alglucerase/imiglucerase. Clinical, laboratory and imaging parameters were evaluated every 2 years. According to the International Society of Clinical Densitometry guidelines, a Z-score ≤ -2.0 was considered pathological. Nine patients (group P0) began ERT during infancy and nine (group P1) during puberty. At baseline, in three patients (16.6 %; 1P0, 2P1) Z-score was ≤ -2.0 (range -2.47 to -2.25). In patient P0 it normalized after 2 years, while in the 2P1 patients (splenectomized siblings) it persisted abnormal. The remaining 15 patients (83.4 %) always presented a normal value. In group P0, Z-score improved in infancy but showed a significant decrease during puberty, on the contrary it constantly improved in group P1. Furthermore, at baseline group P0 showed a higher median Z-score than group P1: 0.79 (0.38; 1.50) and -1.61 (-2.25; -1.56) respectively. The use of correct BMD standards to interpret bone loss during pediatric age suggests a limited significance of bone loss in these patients. Moreover, the persistence of residual disease activity may affect normal bone growth during puberty in GD populations.

BACKGROUND: Fine-needle aspiration cytology (FNAC) is a well-accepted procedure for the diagnosis and biological characterization of breast carcinoma. Estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) status have a strong prognostic and predictive value in invasive breast carcinoma (IBC). ThinPrep (TP) cytology, which uses an alcohol-based fixative, is increasingly being used for immunocytochemistry. In this study, the authors compared the immunocytochemical evaluation of hormone receptors (HR) and HER2 on TP-processed FNAC with the immunohistochemical analysis performed on the corresponding formalin-fixed paraffin-embedded (FFPE) breast tumor specimens, which are considered the gold standard. METHODS: FNACs were performed on 116 primary IBCs at the time of diagnosis and subjected to immunocytochemical evaluation of HR and HER2 using the TP method. The same markers were immunohistochemical evaluated on the corresponding FFPE tissue specimens. HER2 fluorescent in situ hybridization analysis was performed only on the equivocal immunohistochemical results. RESULTS: The HR results of the TP cytology specimens showed a very good agreement with those of the corresponding FFPE tissue samples (Cohen kappa test = 0.92; concordance rate = 98%) for estrogen receptor, and a good agreement (kappa = 0.76; concordance rate = 90.9%) for progesterone receptor. A perfect agreement (kappa = 1) was observed between TP and FFPE tissue samples in evaluating HER2 status. CONCLUSIONS: Alcohol-based fixation seems not to affect the immunocytochemical evaluation of HR and HER2. Considering the high levels of agreement between the evaluation of HR and HER2, on both cytology specimens and on the corresponding FFPE tissue samples, the authors concluded that the TP technique can be routinely used for the biological characterization of IBC. Cancer (Cancer Cytopathol) 2012;. © 2012 American Cancer Society.

Closure of wards (units) during the summer is a management practice introduced in some Italian hospitals to deal with the national nursing shortage and seasonal staffing patterns. The authors discuss a cross-sectional comparative study that they conducted to assess the effects of this management practice on patient outcomes.

OBJECTIVES Improvement of clinical results in heart transplantation (HTx) has favoured the expansion of indication criteria towards aged population. The impact of increasing recipient age is controversial and, owing to donor shortage, the debate still remains whether HTx is justified for older patients. We analysed age as a prognostic factor at long-term after HTx and if it should be a determinant in organ allocation. METHODS Data of 364 consecutive patients who underwent cardiac transplantation between 1999 and 2014 at the University Hospital of Udine were analysed. Patients were divided into three groups according to age (Group 1: 18-40, Group 2: 41-59, Group 3: ≥ 60 years) and survival and major complications were evaluated at long-term (mean follow-up 6.7 ± 4.5 years, range 1-15.7 years). RESULTS Preoperatively, renal failure (2.9, 16.1, 39.5%, P < 0.01) and cardiovascular factors such as diabetes (1.2, 17.1, 36.4%, P < 0.01), systemic hypertension (5.9, 31.5, 40.8%, P < 0.01) and dyslipidaemia (5.9, 40.3, 42.9%, P < 0.01) were more common in older patients (Group 3), as well as ischaemic cardiopathy (0, 42.6, 49.7%, P < 0.01). Donor age was lower in younger recipients (Group 1) (33 ± 15, 39 ± 14, 45 ± 14 years, P < 0.01). Older patients showed a worse long-term survival (hazard ratio 1.7; 1.1-2.5), also after adjusting for major cardiovascular risk factors, renal failure and donor age. In fact, 15-year survival was 100% in Group 1, while at 1, 5, 10 and 15 years survival was 88, 78, 69 and 56% in Group 2, and 87, 68, 49 and 43% in Group 3, respectively. Even major long-term complications were less frequent in younger patients in terms of neoplasms (P < 0.01), rehospitalizations (P < 0.01) and a tendency to higher freedom from other complications such as cytomegalovirus infections, renal failure and dialysis. CONCLUSIONS Our results showed a significantly different outcome according to recipient age, even when adjusted for major risk factors. Notably, patients younger than 40 years showed 100% long-term survival, and apparent lower rate of complications due to immunosuppression. Since 15-year survival in patients ≤40 years is twice that of patients ≥60 years, recipient age should be taken into account in organ allocation.

Childhood injuries are a major public health problem in Italy. From a study conducted in 1984, injury rates were found to be higher in Trieste, in the north-east of the country, than in other Italian areas. We conducted a new study to evaluate whether injury rates and patterns have changed in Trieste. There are three emergency rooms (ER) in Trieste. We collected and analyzed information on all injured children 0–16 years of age attending these ER in 2003 (child population 0–16 years of age was 28,000). We calculated the annual injury risk overall and by age. We described characteristics of the children (age, sex) and injuries (place, cause, type, affected body part, severity). 5,928 injured children attended the ER, and the annual injury risk was 21.5%. The home was the most frequent place where injuries occurred, especially among the youngest children. The most commonly injured body parts were the limbs and, among the youngest children, the head and face. Approximately 20% of children had moderate to severe injuries (AIS>1), and less then 3% were admitted to the hospital. In comparison to the previous study, there have been no significant changes in the annual risk of childhood injury and in the injury patterns. On the contrary, we observed a dramatic reduction in the frequency of hospitalization, which is probably attributable to the recent implementation of short observation and to the improvement of diagnostic/therapeutic paths in the ER. In conclusion, childhood injuries are still a relevant public health problem in this Italian area and new efforts are needed to prevent them.

OBJECTIVES The higher risk of adverse aortic events in patients with bicuspid aortic valve (BAV) disease and ascending aorta aneurysm is known, but the management of moderate aortic root dilatation in younger patients is a controversial issue. The aim of the study was to compare survival in patients with or without root replacement. METHODS We reviewed 166 consecutive patients with BAV disease and concomitant ascending aorta aneurysm (mean ascending aorta diameter: 51.4 ± 7.2 mm) undergoing cardiac surgery from 1994 to 2010. A total of 77 patients underwent Bentall procedure (90.9% male, mean age: 55.7 ± 12.7 years, Bentall group), whereas the remaining 89 patients underwent aortic valve replacement with supracoronary ascending aorta replacement (SAAR 71.9% male, mean age: 60.5 ± 11.2 years, SAAR group, P = 0.002). The preoperative mean diameter of the root was 44.0 ± 7.2 mm in the Bentall, and 38.5 ± 4.8 mm in the SAAR group (P < 0.0001). RESULTS In-hospital mortality was 2.6% in the Bentall, and 2.3% in the SAAR groups. Overall survival was 84 and 81% in the Bentall (median follow-up: 105 months) versus 89 and 88% in the SAAR (median follow-up: 73 months) groups at 10 and 15 years (P = 0.36), respectively. The mean cardiopulmonary bypass (CPB) time was 201 ± 56 min and 174 ± 58 min (P = 0.0016), the mean cross-clamp time 156 ± 42 min and 132 ± 38 min (P = 0.0008) in the Bentall and SAAR groups, respectively. Four sudden deaths have occurred in the Bentall group and in 2 in the SAAR group. Progressive dilatation of the aortic root in the SAAR group was not significat (postoperative mean diameter: 36.3 ± 4.4 mm). Neither subgroup of patients in the SAAR with preoperative moderate dilatation of aortic root had significat aortic dilatation at the mean follow-up of 73 ± 39 months (preoperative diameter: 43.5 ± 2.3 mm versus postoperative: 39.1 ± 4.2 mm). One patient in Bentall and 1 in the SAAR groups were reoperated for tubular graft infection. CONCLUSIONS In patients with BAV disease, ascending aorta aneurysm and moderate dilatation of the root, the significat reduction of CPB and cross-clamp times, the stability of the residual root at long term and the low risk of adverse aortic events associated with SAAR compared with the Bentall procedure have led us to consider the isolated aortic valve replacement with supracoronary aorta replacement an alternative strategy to the Bentall procedure, especially in high-risk and older patients.

Background The chronic neuropathic form of Gaucher disease (GD3) is characterised by hepatosplenomegaly, anaemia, thrombocytopenia, bone alterations and central neurological involvement. Enzyme replacement therapy (ERT) has been demonstrated to be effective in non neuropathic Gaucher disease, but long term results in patients with GD3 are still limited and contrasting. A possible role of genotype in determining the response to ERT has been hypothesised. Patients and methods All patients affected by GD3, treated with ERT, and followed-up in 4 different Italian centres (Udine, Catanzaro, Sassari and Florence) were included. Data on clinical conditions, laboratory values, neurological and neuropsychological examinations, radiological and electrophysiological features were collected retrospectively from clinical records. Results Ten patients (6 females, 4 males) with four different genotypes (L444P/L444P, L444P/F231I, P159T/unknown, C.115+1G>A/N188S) were identified. They received ERT infusions from 3 to 21 years. Haematological parameters and organomegaly improved/normalised in all patients. Three patients showed severe progressive skeletal deformities. 6/10 patients were neurologically asymptomatic when they started ERT for systemic symptoms. During the follow-up, 2/6 developed an important central nervous system disease; 2/6 developed mild central symptoms; and 2/6 did not show any neurological symptom after 5, and 20 years of treatment respectively, despite the presence of epileptiform abnormalities at the electroencephalogram. Overall, neurological involvement worsened over time in 6/10 patients, 3 of whom developed progressive myoclonic encephalopathy and died. Conclusions ERT improved the systemic manifestations in patients with GD3, but was not able to counteract the progression of neurological symptoms in the long term.

To investigate the prescriptions of systemic antibiotics in a population of pregnant women in Italy, to identify socio-demographic factors associated with increased risk of being prescribed potentially unsafe medications, to compare prescriptions before and during pregnancy and to identify the prescribing General Practitioners (GPs).A retrospective study based on administrative anonymous databases included all women resident of the Friuli Venezia Giulia Region who delivered babies in 2011 (n=9196). The antibiotic prescription risk was calculated by trimester and overall, and compared with that in the year before. Multivariate logistic regression analyses assessed the role of socio-demographic factors on the risk of being prescribed medications that should not be used as first-line.6688 women (72.7%) were prescribed medicines (27363 prescriptions) during their pregnancies. Antibiotics were prescribed to 2279 women (24.8%), less commonly during pregnancy than before. Prescriptions were more frequent in the second and third trimesters. 1736 women were prescribed antibiotics other than first-line medicines (of which, seven tetracyclines and 58 quinolones, which are frankly not recommended). Those women were more frequently younger and less educated. The GPs responsible for those prescriptions were identified.In order to improve the prescription of antibiotics in pregnancy, an audit with the GPs is warranted to understand their motivations, discuss clinical cases and build consensus guidelines on which antibiotics should be preferred for use in pregnancy.

to assess the agreement between two trained psychologists who administered the Bayley Scale of Infant Development III (BSID III) to detect neurodevelopment deficits in a cohort of children within the Northern Adriatic Cohort II (NAC II) longitudinal study, which aims to assess the impact of mercury exposure through food consumption of mothers in pregnancy on their children's neurodevelopment.a reliability study was carried out. Two trained psychologists administered the test, each one scoring the test independently, and serving as the primary examiner for half of the sample and as the observer for the other half.a sample of 53 children of 18 months of age was enrolled consecutively within the Italian NAC II, and tested using the Bayley Scale of Infant Development III (BSID III) to detect neurodevelopment deficits.the cognitive, language, and motor scales of the BSID III were evaluated and the respective Intraclass Correlation Coefficients (ICC) were calculated.overall, the ICCs for the cognitive and language scales were very high (≥0.98), while the ICCs for the motor scales were slightly lower, ranging from 0.86 (gross motor, scaled) to 0.97 (fine motor, scaled), but still higher than 0.80, reported as the general acceptable benchmark for psychological testing.the interrater reliability of all BSID III scales for this sample of 18-month-old children is very high and assures comparable results between the two psychologists involved in the Italian NAC II study. The reasons are a common training, the joint evaluation of many children during the preliminary phase of the study, the discussion of inconsistent results, but also the "go no-go" nature of the items in BSID III.

Background Chemotherapy administration is a high-risk process. Aim of this study was to evaluate the frequency, type, preventability, as well as potential and actual severity of outpatient chemotherapy prescribing errors in an Oncology Department where electronic prescribing is used. Methods Up to three electronic prescriptions per patient record were selected from the clinical records of consecutive patients who received cytotoxic chemotherapy between January 2007 and December 2008. Wrong prescriptions were classified as incomplete, incorrect or inappropriate. Error preventability was classified using a four-point scale. Severity was defined according to the Healthcare Failure Mode and Effect Analysis Severity Scale. Results Eight hundred and thirty-five prescriptions were eligible. The overall error rate was 20%. Excluding systematic errors (i.e. errors due to an initially faulty implementation of chemotherapy protocols into computerized dictionaries) from the analysis, the error rate decreased to 8%. Incomplete prescriptions were the majority. Most errors were deemed definitely preventable. According to error presumptive potential for damage, 72% were classified as minor; only 3% had the potential to produce major or catastrophic injury. Sixty-eight percent were classified as near misses; adverse drug events had no or little effect on clinical outcome. Conclusions Chemotherapy prescribing errors may arise even using electronic prescribing. Although periodic audits may be useful to detect common errors and guide corrective actions, it is crucial to get the computerized physician order entry system and set-ups correct before implementation.

Analysis of relative importance of side effects of anticancer therapy is extremely useful in the process of clinical decision making. There is evidence that patients' perception of the side effects of anticancer treatments changes over time.Aim of this study was to evaluate the cancer patients' perceptions of physical and non-physical side effects of contemporary anticancer therapy. Four hundred and sixty-four patients entered the study (153 men and 311 women). Participants were asked to rank their side effects in order of distress by using two sets of cards naming physical and non-physical effects, respectively. Influencing factors, including treatment and patient characteristics, were also analysed.Patients ranked the non-physical side effect 'Affects my family or partner' first. 'Constantly tired' and 'Loss of hair' were ranked second and third, respectively. Significant differences from previous studies on this topic emerged. In particular, 'Vomiting', a predominant concern in previous studies, almost disappeared, whereas 'Nausea' and 'Loss of hair' remained important side effects in the patients' perception. Interestingly, marital status was predominant in driving patients' perception, being associated with several side effects ('Constantly tired', 'Loss of appetite', 'Affects my work/Home duties', 'Affects my social activities', 'Infertility'). Other significant factors influencing patient's perception of side effects included age, disease characteristics and ongoing anticancer therapy.This study provided information on current status of patients' perceptions of side effects of anticancer treatment. These results could be used in pre-treatment patient education and counselling.

Glycogenosis type II, a genetic muscle-wasting disorder, results in a spectrum of clinical phenotypes. Enzyme replacement therapy is effective in the infantile form of the disease, while little is known about its effectiveness in late-onset disease, especially in juvenile patients. The purpose of this retrospective cohort study was to assess the long-term effects of enzyme replacement therapy (ERT) in juvenile glycogenosis type II (GSDII). Eight Italian juvenile GSDII patients, receiving biweekly infusions of 20 mg/kg recombinant human α-glucosidase for at least 72 months, were enrolled (median age at therapy start was 11.8 years). Six-minute walk test (6MWT) and forced vital capacity (FVC), measured in upright position, were chosen as the principal outcome measures. Global motor disability (modified Walton scale (WS)), muscle enzymes levels [creatine phosphokinase (CK), lactate dehydrogenase (LDH), aspartate transaminase (AST), alanine transaminase (ALT)] and body mass index (BMI) were also analysed both at baseline (therapy start) and annually afterwards. At baseline, most patients (six out of eight) did not show muscle function impairment (WS ≤ 2). The performance at 6MWT showed a slight improvement during follow-up as well as FVC. Muscle enzymes levels showed a clear decrease after the 1st year of treatment while remained stable afterwards. An overall decrease in BMI was also observed during follow-up, although at the individual level, trends were variable. Conclusion: ERT is effective in stabilising both motor and lung functions in juvenile patients with GSDII, possibly slowing down the rate of disease progression. Randomised controlled trials are needed to understand whether early treatment allows juvenile patients to reach adulthood with a more beneficial residual muscular function than untreated patients.

Seafood is an important component of healthful human diets. Intake of seafood is recommended both for young women and children. In fact, it is a good source of high-quality protein, low in saturated fats, and rich in essential nutrients (e.g. iodine, iron, choline, and selenium) and long-chain polyunsaturated fatty acids (LCPUFAs), especially omega-3. However, the relationship between maternal diet and the children’s dietary habits is controversial. This study investigated the possible association between the seafood consumption by mothers and that by their 8-11 years old children and compared maternal seafood intakes during pregnancy and about 10 years later. The seafood consumption by 37 pregnant women was assessed in 1999-2001. In 2009, mothers were asked to report their weekly intake and their children’s. Motherchild pairs showed a similar consumption pattern: the overall intake was 1.28±0.77 vs 1.19±0.64 (p=0.49) while the sum of specific items was 3.71±3.01 vs 3.18±2.90 (p=0.049). However, it cannot be discerned whether maternal diet affected the children’s nutritional habits or vice-versa. In fact, mothers showed to have a higher seafood intake about 10 years after pregnancy (3.71 vs 1.83; p

The aim of the present study is to evaluate the clinical and biological factors (including markers of angiogenesis) as potential predictors of prognosis and benefit from metronomic therapy in patients with advanced breast cancer (ABC). Recent data suggest antiangiogenic activity of metronomic therapy. The study population included 62 patients with pretreated ABC who received cyclophosphamide and methotrexate orally. Tumour samples were analysed by immunohistochemistry for HER2, Ki-67, thymidine phosphorylase (TP), vascular endothelial growth factor and vascular endothelial growth factor receptor. The results from immunohistochemical analysis and clinico-pathological variables were studied to test their potential association with benefit from metronomic therapy. The median overall survival, progression-free survival and survival postprogression were 7.1 (range 0.2-38.3), 2.6 (range 0.2-28.9) and 3 (range 0-34.2) months, respectively. Among the clinical variables, age, performance status and previous therapy with taxanes were significantly associated with outcomes. Among the molecular markers, TP was found to be associated with progression-free survival. Metronomic therapy is an effective choice for ABC. Young women with a more indolent disease had the greatest benefit from this treatment. TP tumour expression might aid decision making but these findings must be confirmed in larger prospective, properly designed studies.

To synthesise the evidence available in the literature on the effectiveness of the ultrasound bladder scanner in reducing the risk of urinary tract infection.Acute urinary retention is the inability to empty the bladder notwithstanding it being full and is frequent in the postoperative period. Using the ultrasound bladder scanner for the measurement of urinary residue, nurses are able to evaluate the presence of urinary retention, monitor the volume and the excessive relaxation of the bladder and avoid unnecessary catheterisations. The association between urinary catheterisation and urinary tract infection is well documented in the literature.A meta-analysis was conducted.An extensive review was carried out by two researchers using multiple databases, including all articles published from 1 January 1986-8 February 2008. No restrictions were adopted with regard to language. Studies on (1) documenting hospitalised patients with a need to evaluate bladder urinary volume, (2) comparing the use of the ultrasound bladder scanner vs. the clinical judgment of the nurses in the evaluation of acute urinary retention followed by a decision regarding whether or not to apply a bladder catheter and (3) those documenting the impact on urinary tract infection associated with catheterisation were included.A total of 61 articles were retrieved, of which 58 were excluded because they did not meet the inclusion criteria. The overall effectiveness of the bladder ultrasound scanner in the reduction of urinary tract infection associated with catheterisation was OR 0.27 (IC95% 0.16-0.47; p-value 0.00000294, variance 0.08, weight 12.50).The ultrasound bladder scanner helps to define and monitor bladder urinary volume and therefore, to catheterise patients only when necessary. Although there were numerous factors affecting the clinical heterogeneity of the included studies, the reduction in risk of urinary tract infection associated with catheterisation was consistent.The use of the ultrasound bladder scanner for evaluating and monitoring the residue volume in immediate postoperative patients, aged 18 or above, reduces unnecessary catheterisations and therefore the risk of urinary tract infection associated with catheterisation.The systematic use of the ultrasound bladder scanner in the peri-operative period could increase the appropriateness of catheterisation and reduce patient discomfort, costs and days of hospitalisation associated with urinary tract infection associated with catheterisation.

A subgroup analysis comparing elderly (age > or =70 years; n=95) with younger (age