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Importance Heated, humidified high-flow nasal cannula (HHHFNC) has gained increasing popularity as respiratory support for newborn infants thanks to ease of use and improved patient comfort. However, its role as primary therapy for respiratory distress syndrome (RDS) of prematurity needs to be further elucidated by large, randomized clinical trials. Objective To determine whether HHHFNC provides respiratory support noninferior to nasal continuous positive airway pressure (nCPAP) or bilevel nCPAP (BiPAP) as a primary approach to RDS in infants older than 28 weeks’ gestational age (GA). Design, Setting, and Participants An unblinded, monocentric, randomized clinical noninferiority trial at a tertiary neonatal intensive care unit. Inborn infants at 29 weeks 0 days to 36 weeks 6 days of GA were eligible if presenting with mild to moderate RDS requiring noninvasive respiratory support. Criteria for starting noninvasive respiratory support were a Silverman score of 5 or higher or a fraction of inspired oxygen higher than 0.3 for a target saturation of peripheral oxygen of 88% to 93%. Infants were ineligible if they had major congenital anomalies or severe RDS requiring early intubation. Infants were enrolled between January 5, 2012, and June 28, 2014. Interventions Randomization to either HHHFNC at 4 to 6 L/min or nCPAP/BiPAP at 4 to 6 cm H 2 O. Main Outcomes and Measures Need for mechanical ventilation within 72 hours from the beginning of respiratory support. The absolute risk difference in the primary outcome and its 95% confidence interval were calculated to determine noninferiority (noninferiority margin, 10%). An intention-to-treat analysis was performed. Results A total of 316 infants were enrolled in the study: 158 in the HHHFNC group (mean [SD] GA, 33.1 [1.9] weeks; 52.5% female) and 158 in the nCPAP/BiPAP group (mean [SD] GA, 33.0 [2.1] weeks; 47.5% female). The use of HHHFNC was noninferior to nCPAP with regard to the primary outcome: failure occurred in 10.8% vs 9.5% of infants, respectively (95% CI of risk difference, −6.0% to 8.6% [within the noninferiority margin]; P = .71). Significant between-group differences in secondary outcomes were not found between the HHHFNC and nCPAP/BiPAP groups, including duration of respiratory support (median [interquartile range], 4.0 [2.0 to 6.0] vs 4.0 [2.0 to 7.0] days; 95% CI of difference in medians, −1.0 to 0.5; P = .45), need for surfactant (44.3% vs 46.2%; 95% CI of risk difference, −9.8 to 13.5; P = .73), air leaks (1.9% vs 2.5%; 95% CI of risk difference, −3.3 to 4.5; P = .70), and bronchopulmonary dysplasia (4.4% vs 5.1%; 95% CI of risk difference, −3.9 to 7.2; P = .79). Conclusions and Relevance In this study, HHHFNC showed efficacy and safety similar to those of nCPAP/BiPAP when applied as a primary approach to mild to moderate RDS in preterm infants older than 28 weeks’ GA. Trial Registration clinicaltrials.gov Identifier:NCT02570217

YKL-40 (also called chitinase 3-like-1 or human cartilage glycoprotein 39) is a chitinase-like protein belonging to the family 18 of glycosyl hydrolase (GH18). This protein is involved in the inflammatory process acting as pro-inflammatory cytokine secreted by neutrophils, activated human macrophages, vascular smooth muscle cells and cancer cells. It has been shown that YKL-40 has a role in pathological tissue remodeling and development of fibrosis of several diseases. To date, the biological and pathophysiological function of YKL-40 protein in pulmonary diseases is still unclear. This review focuses on the role of YKL-40 in diagnosis and monitoring of different lung diseases in order to assess whether this protein could be used as biomarker of specific conditions featured by inflammation and fibrosis. A comprehensive review of the literature using PubMed database, with appropriate terms, was undertaken for articles in English published since 1997. The literature search was undertaken in October 2014.

Despite of improved survival of premature infants, the incidence of long term pulmonary complications, mostly associated with ventilation-induced lung injury, remains high. Non invasive ventilation (NIV) is able to reduce the adverse effects of mechanical ventilation. Although nasal continuous positive airway pressure (NCPAP) is an effective mode of NIV, traumatic nasal complications and intolerance of the nasal interface are common. Recently high flow nasal cannula (HFNC) is emerging as a better tolerated form of NIV, allowing better access to the baby's face, which may improve nursing, feeding and bonding. HFNC may be effective in the treatment of some neonatal respiratory conditions while being more user-friendly for care-givers than conventional NCPAP. Limited evidence is available to support the specific role, efficacy and safety of HFNC in newborns and to demonstrate efficacy compared with NCPAP; some studies suggest a potential role for HFNC in respiratory care of the neonate as a distinct non invasive ventilatory support. We present the preliminary data of a randomized clinical trial; the aim of this study was to assess efficacy and safety of HFNC compared to NCPAP in preterm newborns with mild to moderate respiratory distress syndrome (RDS).

Objective: Preparation of the great saphenous vein for coronary artery bypass grafts is usually performed through one or many cutaneous incisions. A technique of endoscopic harvesting is now available. An aim of the study was to compare both methods, prospectively. Methods: Sixty coronary artery bypass grafting patients were randomly assigned to two groups according to saphenous vein harvesting technique: 30 patients to group 1 ‐ open harvesting technique (OHT) and 30 patients to group 2 ‐ endoscopic harvesting technique (EHT). The results were assessed on the basis of (1) clinical outcome (hematomas, inflammations), (2) length of the cutaneous incisions compared to length of the segment of vein harvested, (3) time of harvesting, (4) postoperative pain. Results: Both groups were comparable in terms of: age, sex, diabetes, peripheral artery disease, site of harvesting, number of anastomoses, and length of the vein harvested. Both the length of the cutaneous incisions and the postoperative pain were decreased in the EHT group. Harvesting time was increased in the OHT group. Conclusions: Endoscopic saphenous vein harvesting allows improved aesthetic aspect, less postoperative discomfort, with an increased time in harvesting in the beginning. © 1998 Elsevier Science B.V. All rights reserved

The supported employment approach offers the potential to increase rates of competitive employment for persons with severe mental illness, but implementation and outcomes vary considerably. The authors examined regional variation in rates of employment across one state to ascertain the factors that affect outcomes. Mental health centers that emphasized supported employment programs achieved higher rates of competitive employment than centers that continued to offer pre-employment programs, such as day treatment and sheltered workshops. Mental health centers that attained high rates of competitive employment spent a larger proportion of their total budget on vocational services than other centers. Rural centers were also more likely to attain high employment rates than urban centers.

The 1,2-fucosyl-oligosaccharides, and among these the 2’-fucosyl-lactose (2’-FL) and lacto-N-fucopentaose (LNFP)-I, are quantitatively the most represented oligosaccharides of human milk. They are also seen to represent an important immune device to prevent nursing infants from severe infectious diarrhoea. Recent evidences show that the appearance of 2’-FL and LNFP-I in human colostrums is synchronised with the macrophage inhibition and that LNFP-III induces a Th2 response from the mouse peripheral immune system. Since mannosyl-fucosyl receptors are described on the macrophage surface, all these evidences allow us to investigate on the possible immune function of human 2’-FL and LNFP-I in vitro on LPS-activated mononuclear cells (MNC) from 12 patients with multiple sclerosis (MS) and 20 matched health controls (HC). We found that 2’-FL and LNFP-I significantly decrease, to a different extent, the MNC proliferation from both HC and MS patients, in a linear and dose-dependent manner. 2’-FL and LNFP-I also reduce the production of IL-12 and IFN-γ, particularly in MS patients as compared to HC (p=0.01 and p

The status of the project is described: the activity on long term characterization of water optical and oceanographic parameters at the Capo Passero site candidate for the Mediterranean km$^3$ neutrino telescope; the feasibility study; the physics performances and underwater technology for the km$^3$; the activity on NEMO Phase 1, a technological demonstrator that has been deployed at 2000 m depth 25 km offshore Catania; the realization of an underwater infrastructure at 3500 m depth at the candidate site (NEMO Phase 2)., Proceeding of ISCRA 2006, Erice 20-27 June 2006

High levels of plasma chitotriosidase are a marker of macrophage activation in several pathologies and, in particular, in human malaria. Plasmodium falciparum, during its maturative cycle in the midgut of the Anopheles mosquito, secretes a chitinase to disrupt the peritrophic membrane, a necessary step in the migration of the parasite from the midgut to the salivary glands of malaria's vector. The cooperation between human chitotriosidase (Chit) and the chitinase from P. falciparum in attacking the peritrophic membranes in the Anopheles midgut has been recently demonstrated by in vivo experiments. The present study confirms, by computational methods, this functional homology. A simple sequence analysis method, potentially useful to assess fine textual closeness in families of homologous proteins, is reported here and applied to a set of chitinases from mammals and plasmodia. This analysis confirms the clustering and the phylogenetic relationships obtained with well-known alignment methods, but also shows that the sequences of chitinases from malaria hosts and malaria parasites are correlated. This correlation, a sign of functional homology, is discussed as a condition for the spreading of different forms of malaria. From this perspective, one can get insight into the origins of malaria and its genetic or pharmacological control.

There are differences in the allele frequency of MTHFR polymorphism between Western and African population. The aim of this study is to determinate the prevalence of MTHFR C677T and A1298C polymorphisms in young and old people living in different areas from Mediterranean to sub- Saharan areas. The observed vs expected genotype frequencies of 677T were in Hardy Weinberg equilibrium, with the exception of old Sardinian subjects (P=0.02). Calculation of 677T allele frequency in young and old African subjects (8% and 3%, respectively) indicated that the 677T allele was disadvantaged in old Africans (P=0.02). The difference among young and old Sardinians and Sicilians were not significant at the same degree (43% vs 37% P=0.07 and 46% vs 42% P=0.28, respectively). However, the reproducible trend that showed the prevalence of 677T allele in the young subjects of the three studied areas confirms the disadvantage of this polymorphism with the age. There was a significant difference (P=0.005) on the observed vs expected frequency of 1298C homozygosity in African old subjects compared to younger ones, while the observed vs expected genotype frequencies were in equilibrium in young and old Sardinian and Sicilian subjects. The frequencies of 1298C and 1298A alleles were comparable between young and old African, Sardinian and Sicilian subjects. The lower frequency of 677T allele in old African, Sardinian and Sicilian subjects compared to young ones and the absence of TT genotype among old African subjects, should be considered as a consequence of an elevated mortality of 677T carriers.

An increased incidence of reproductive problems, including infertility, miscarriage, low birth weight newborns, and shorter duration of breast-feeding, are known to exist in women with coeliac disease; some of these conditions are improved by a gluten-free diet. We have tried to ascertain the prevalence of coeliac disease in 99 couples who were being evaluated for infertility, compared with the known prevalence of silent disease in the population of Northern Sardinia, in which it is endemic. Of all women, four tested positive for at least two out of three markers: immunoglobulin A (IgA) antigliadin, immunoglobulin (IgG) antigliadin, and anti-endomysium antibodies, and underwent a jejunal biopsy; three had histological evidence of coeliac disease. One male partner was positive for two markers, and had a diagnostic jejunal biopsy. The prevalence of coeliac disease in infertile women seems higher (three out of 99, 3. 03%) in the study group than in the general population (17 out of 1607, 1.06%), and particularly in the subgroup with unexplained infertility (two out of 25, 8%, P < 0.03). Screening for coeliac disease should be part of the diagnostic work-up of infertile women, particularly when no apparent cause can be ascertained after standard evaluation.

Cryptococcal meningitis is one of the most common life-threatening, invasive fungal infections of the central nervous system in patients with defective T-lymphocyte function. It is, however, unusual in children. We report on a non-immunocompromised 10-y-old boy without evidence of immunological abnormality who developed headache, vomiting, disturbances of consciousness and areflexia. Magnetic resonance imaging of the brain and the spinal cord revealed enlargement of the ventricles and high signal lesions in the leptomeninges at the level of the cerebral peduncles and the cervical and thoracic cord. Cerebrospinal fluid analysis was positive for Cryptococcus neoformans. He was treated with amphotericin B and was symptom-free within 1 wk. Despite an extended course of therapy his symptoms suddenly relapsed and he succumbed to the medical complications of cardiac and respiratory failure. Central nervous system appearances at postmortem were those of cryptococcal leptomeningitis.

There is still some controversy whether ST segment depression during exercise testing might predict the location of myocardial ischemia. From a population of 1196 patients who underwent myocardial 99mTc-tetrofosmin exercise SPECT scintigraphy, 22 consecutive patients (20 males and 2 females, mean age 54 +/- 10 years) with no previous myocardial infarction, positive exercise testing (or = 1 mm ST segment depression) performed in pharmacologic wash-out and angiographically documented isolated single vessel coronary artery disease (or = 70% diameter stenosis in a main coronary artery) were selected. None of the patients showedor = 1 mm ST segment depression exclusively in inferior leads (II-III-aVF). Eight patients (36%) showedor = 1 mm ST segment depression exclusively in precordial leads (Group 1). The remaining 14 patients (64%) showedor = 1 mm ST segment depression in both inferior and precordial leads (Group 2). No differences between groups were observed regarding peak exercise test parameters such as heart rate (124 +/- 28 vs 135 +/- 21 b/min, NS), rate-pressure product (22592 +/- 5323 vs 23118 +/- 4197 mmHg x b/min, NS) and exercise time (14.5 +/- 3.9 vs 15.1 +/- 2.9 min, NS) and the number of stress-induced reversible and partially reversible defects (3.3 +/- 3.4 vs 4.6 +/- 2.8, NS). All reversible and partially reversible defects were seen in the related coronary artery stenosis region. Among Group 1, 5 patient (62.5%) showed aor = 70% stenosis of left descending coronary artery, 1 patient (12.5%) of left circumflex and 2 patients (25%) of right coronary artery. Similarly, among Group 2, 9 patients (64.3%) showed a significant stenosis of left descending coronary artery, 1 patient (7.1%) of left circumflex and 4 patients (28.6%) of right coronary artery. Thus, we were not able to show a relation between exercise ST segment depression and the location of myocardial ischemia as assessed by myocardial 99mTc-tetrofosmin SPECT scintigraphy in a population of patients selected on the basis of single coronary artery disease.

Between 1984 and 1995, 183 patients underwent an ascending aorta procedure at our institution. Their mean age was 60 +/- 12.3 years; 116 (63.4%) patients were male, 35 (19.1%) had a history of congestive heart failure, 72 (39.3%) presented acute type A dissection, 23 (12.6%) were redos and 63 (34.4%) were operated on an emergency basis. In-hospital mortality was 10% (12/120) in elective procedures and 36.5% (23/63) in emergency operations (p0.0001). Multivariate stepwise logistic regression analysis identified cardiopulmonary by-pass time, emergency operation, arch replacement and the need for femoral vein cannulation at surgery as independent predictors of in-hospital death. Mean follow-up time was 54 +/- 30 months (median 50 months), with a Kaplan-Meier survival of 69 +/- 4% and of 60 +/- 5% at 5 and 7 years, respectively. Cox regression analysis identified arch replacement, perioperative myocardial infarction, preoperative NYHA class, acute type A aortic dissection, the need for femoral vein cannulation at intervention and redo operations as independent predictors of reduced survival at follow-up. When this kind of analysis was performed on hospital survivors only, postoperative tracheostomy, reexploration for bleeding, and the occurrence of postoperative ventricular arrhythmias emerged as risk factors. In conclusion, multiple factors affect both early and long-term outcome following ascending aorta surgery. Preoperative clinical status of patients, priority of surgery and aortic dissection are the main determinants of the short-term results. Otherwise, in hospital survivors, the main determinant for long-term outcome seems to be the immediate postoperative course.

This study was designed to evaluate risk factors for in-hospital mortality and midterm survival in patients undergoing ascending aorta surgery at a single institution during an 11-year period. Between 1984 and 1994 a total of 158 patients underwent an ascending aorta procedure at our institution. Their mean age was 59.6 ± 12.3; 115 (73%) were male, 33 (21%) had a history of congestive heart failure, 61 (39%) had an acute type A dissection, 21 (13%) underwent redo operations, and 55 (35%) were operated on an emergency basis. In-hospital mortality was 9.7% (10/103) for elective procedures and 36.4% (20/55) for emergency operations ( p < 0.0001). Multivariable stepwise logistic regression analysis identified the cardiopulmonary bypass time [odds ratio (OR) = 1.01/min, p = 0.0021], emergency operation (OR = 2.27, p = 0.0022), arch replacement (OR = 2.71, p = 0.0067), and the need of femoral vein cannulation at intervention (OR = 1.89, p = 0.0375) as independent predictors of in-hospital death. When this kind of analysis was performed, evaluating only the variables known before surgery, acute type A dissection (OR = 2.21, p = 0.0009) and preoperative NYHA class (OR = 1.88 per class, p = 0.0290) were independent risk factors for in-hospital death. Follow-up ranged from 10 to 126 months (median 42 months), with Kaplan-Meier survivals of 69 ± 4%, and 60 ± 5% at 5 and 7 years, respectively; survival rates for hospital survivors were 85 ± 4% and 67 ± 7% at 5 and 7 years, respectively. Cox regression analysis has identified arch replacement [relative risk (RR) = 2.48, p < 0.0001], perioperative myocardial infarction (RR = 2.44, p = 0.0003), preoperative NYHA class (RR = 1.97 per class, p = 0.0009), acute type A aortic dissection (RR = 1.44, p = 0.0238), the need of femoral vein cannulation at intervention (RR = 1.55, p = 0.0332), and redo operation (RR = 1.44, p = 0.0851) as independent predictors of reduced survival at follow-up. When this kind of analysis was performed on hospital survivors only, postoperative tracheostomy ( p = 0.0003, RR = 3.42), reexploration for bleeding ( p = 0.0003, RR = 3.77), and the occurrence of postoperative ventricular arrhythmias ( p = 0.0007, RR = 2.45) emerged as risk factors. Multiple factors affect the early and late outcome after ascending aorta surgery; our data suggest that the preoperative clinical status of the patients and the priority of surgery and aortic dissection are the main determinants of the early results; on the other hand, the early postoperative course is the main determinant of the late outcome of hospital survivors.

We report an 11-year-old boy with active Epstein-Barr virus (EBV) infection who developed acute aphonia and had signs and symptoms of recurrent laryngeal nerve palsy. The association of isolated recurrent laryngeal nerve palsy and EBV infection has not previously been reported. This case report expands the spectrum of neurologic complications of EBV infection, and suggests that infectious mononucleosis should be considered in the differential diagnosis of acute aphonia in children.

Nineteen patients with histologically diagnosed supratentorial cerebral neoplasms carried out CT and/or MRI, 201T1 SPECT and 99mTc-HM-PAO studies preoperatively. 99mTc-HM-PAO SPECT images revealed information about both tumoral perfusion and intracellular concentration of mediators converting 99mTc-HM-PAO to hydrophilic derivates (glutathione and other yet unknown factors) within viable tumoral cells while 201T1 SPECT images about permeability, extension of tumoral capillary network and viable tumoral cells presence. Basing on the different mechanisms of the tracer uptake, cerebral supratentorial tumors could be distinguished in three groups: 1) cerebral tumors presenting 201T1 very high uptake (201T1 index1.5) and homogeneous and high retention of 99mTc-HM-PAO (CBIor = 1.05) (meningiomas, PRL adenoma); histologically these neoplasms presented very rich neoformed capillary network; 2) cerebral neoplasms with 201T1 high uptake (201T1 index1.5) and with inhomogeneous retention of 99Tc-HM-PAO (high grade gliomas amd metastasis); microscopically these tumors presented vascular proliferation, necrosis and high cellularity; 3) cerebral neoplasms characterized by 201T1 low uptake (201T1 index1.5) and lower retention of 99Tc-HM-PAO than cerebellum (low grade gliomas); at microscopic examination these neoplasms were characterized by absence of vascular proliferation and necrosis. These results suggest coupled 201T1/99Tc-HM-PAO SPECT is necessary to discriminate intra-axial from extra-axial tumor localization (lacking CT or MRI) and to detect the grade of malignancy of gliomas and tumor cell presence within necrotic areas.

A retrospective study with the aim of evaluating sensitivity and specificity of antigliadin antibodies (AGA) was carried out. AGA values, IgA and IgG, and mucosal damage at intestinal biopsy were compared in each subject, on a sample of 245 subjects, who had undergone intestinal biopsy because of suspected coeliac disease (CD), from January 1991 to December 1993. 130 subjects (53.1%) were found to be suffering from CD, whereas the remaining 115 subjects (46.9%), who did not show any signs of the disease, were considered as controls. When we compared AGA values with mucosal damage we observed that IgA were normal in 24 (18.5%) and pathological in 106 (81.5%) coeliac patients, whereas they were normal in 107 (93%) and pathological in 8 (7%) controls. IgG values were normal in 17 (13.1%) and pathological in 113 (86.9%) coeliac patients, but normal in 75 (65.2%) and pathological in 40 (34.8%) controls. Data about AGA sensitivity related to age, showed IgA sensitivity varying from 80.4% in children under 1 year old to 70% in children over 10 years old and IgG sensitivity from 94.1% to 50%. Data about specificity related to age, showed IgA sensitivity varying from 78.7% in children under 1 year old to 100% in children over 10 years old and IgG specificity from 30.4% to 90.9%. Our results indicated that AGA-IgA had a total sensitivity or 81.5%, a total specificity of 93% and a concordance with intestinal damage of 86.9% while AGA-IgG had a total sensitivity of 86.9%, a total specificity of 65.2% and a concordance with intestinal damage of 76.7%. These data presented a modification on the basis of age, being higher in children under 3 years of age and decreasing with the increase in age. We conclude that AGA have great importance in suspect CD, but it is most important that their results are evaluated on the basis of age.

Several reports have clearly demonstrated that intradermal way of administration of hepatitis B vaccine represent a valid alternative to the intramuscular route, producing an high percentage of seroconversion. The characteristics of the intradermal way, short time of immunization and lower cost, have induced us to conduct a clinical trial among 116 healthcare workers in a hospital setting, which represent an high risk group especially at their first admission to the hospital. 99 selected participants (average age 22 years, range 17-27) received, after screening for HBV markers, 5 mcg of vaccine intradermally on the volar surface of the forearm, according to the schedule 0, 15, 30 and 45 days. Serum samples were collected after one month from the last inoculation of vaccine. The percentage of seroconversions obtained was significantly high (93.9%) confirming that intradermal vaccination with hepatitis B vaccine may be appropriate in providing a rapid protection for certain population subgroups.

There are still controversies about the surgical results of myocardial revascularization in aged population, in terms of cardiac and non-cardiac morbidity and mortality. This issue prompted us to study retrospectively 71 patients older than 75 years electively operated of coronary artery bypass grafting (CABG) from June 1990 to June 1993 (Group A). Elderly population was compared with a contemporaneous and concurrent control group of patients younger than 75 years (Group B). Patients75 years have been divided in successive subgroups according to the severity of coronary artery disease (3 vessel disease 67.7%, 2 vessel disease 26.7%, 1 vessel disease 5.6%), echocardiographic ejection fraction (EF50%: 40.8%; 50-30%: 42.2%;30%: 16.9%) and preoperative risk factors. Left internal thoracic artery (LITA) utilization rate was 97.1% in Group B and 57.7% in Group A (p0.001). Cardiopulmonary bypass circulation, aortic cross-clamping time and number of coronary anastomoses were similar in the 2 groups (2.87 +/- 0.9 versus 2.8 +/- 0.8, NS). Operative mortality rate of aged population was 4.2% while no patient of Group B died (NS). Concerning the cardiac morbidity, there were no significantly differences between the 2 groups: myocardial infarction occurred in 3 patients of Group B (4.2%) and in 5 patients of Group A (7%; NS). Atrioventricular block was also similar in the 2 groups. Non-cardiac complications occurred more frequently in the aged population group: neurologic complications in 11.2% versus 1.4% (p0.04), renal insufficiency in 12.6% versus 1.4% (p0.03) and respiratory failure in 9.8% versus 1.4% (p = 0.06). (ABSTRACT TRUNCATED AT 250 WORDS)

A case of Kawasaki disease with early development of giant coronary artery aneurysm is reported. The delay in the diagnosis and consequently in the use of correct therapy has conditioned the outcome of the illness. We don't know the predictive factors of cardiac complications, but steroid treatment in our patient probably had an important role in the cardiac damage. The use of echocardiography in the evaluation of coronary aneurysm has confirmed the sensitivity, specificity and predictive value of this technique in detecting cardiac lesions.

The authors describe a sister and brother [correction of two brothers] affected by syndromic paucity of interlobular bile ducts in which a marked heterogeneity in the beginning of symptoms puts serious difficulties in differential diagnosis. The evident similarity to the mother and the presence of hypertelorism support the hypothesis of a genetic inherited autosomal dominant disorder at variable penetration and expressivity.

We report on two adolescent sisters with Sanfilippo syndrome type D with some clinical features different from other cases previously described. They are the oldest cases reported to date and provide new clues about the course of the disease. Enzymatic and immunological characterisation of the patients' fibroblasts indicated deficiency of N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). However, Northern blot analysis showed apparently normal mRNA encoding GlcNAc-6S sulphatase. These findings suggest that abnormal translation or premature degradation may be responsible for the enzyme defect in these cases of Sanfilippo syndrome type D.

Forty-four polytransfused thalassemic patients were considered to evaluate hPH enzyme, involved in collagen synthesis. The aim of this investigation was to verify the usefulness of such assay in the follow-up of liver damage in thalassaemic patients. The patients were separated into two groups: one group with normal transaminase activity and another one with pathological values from more than two years. A group of 20 healty children was chosen for the control values of enzymatic activity. In all patients HCV-Ab was determined. Results obtained confirm the role of viral liver infection in inducing fibrosis in polytransfused thalassaemic patients and suggest the possibility to use hPH assay in their follow-up.