Respiratory disorders and hospitalization rates during the second RSV season in preterm infants who received palivizumab prophylaxis during their first RSV season.

This prospective study evaluated the frequency and severity of respiratory symptoms during the second respiratory syncytial virus (RSV) season in an italian cohort of preterm infants (< or = 35 weeks) who had received palivizumab prophylaxis in their first year of life (October 2004-April 2005) and who had not previously been hospitalized for RSV-induced lower respiratory tract infection (LRTI). infants were evaluated at enrolment (May-September 2005), in October/November 2005 and in April 2006. The occurrence of any respiratory episode, the rate of hospitalization for respiratory-related LRTI, total length of stay in hospital, physician-documented recurrent wheezing (>or = 3 physician-documented episodes of wheezing) and use of airway medication/antibiotics were recorded during follow-up. All infants had prior palivizumab prophylaxis during their first RSV season. In the total evaluable population (n=260), 32.3% of infants experienced at least one respiratory episode, 3.8% required short hospitalization because of LRTI, 8.5% had physician-documented recurrent wheezing, and 48.8% required airway medications/antibiotics during follow-up. in this study the rate of airway morbidity, hospitalization and physician-documented recurrent wheezing during the second RSV season was low among preterm infants who had received prior palivizumab prophylaxis.

Hepatitis B virus infection in native versus immigrant or adopted children in Italy following the compulsory vaccination.

BACKGROUND: Compulsory vaccination of children against hepatitis B virus (HBV) infection was introduced in Italy in 1991. PATIENTS AND METHODS: To evaluate the current importance of pediatric HBV infection, we studied 359 HBsAg-positive children admitted to 16 centers in Italy from 1991 to 1998. 185 patients were natives of Italy and 174 (39 immigrants and 135 adopted) came from highly endemic countries (eastern Europe: 60.9%, Asia: 16.7%, Africa: 14.9% and Central and South America: 5.7%). RESULTS: Transaminase Levels were moderately altered in both Italian (mean 134 UI/L) and foreign children (mean 168 UI/L). In total, 77% of ItaLian children and 88% of foreign children tested HBeAg positive. High transaminase levels and HBeAg positivity were more frequent in adopted children. Follow-up of 317 patients showed that the incidence of HBeAg/anti-HBe serum conversion was similar in all cohorts, but in adopted children it occurred at an earlier age and was associated with HBsAg clearance in 5%. CONCLUSION: HBV is not frequent in Italian children today, but it is common among children coming from highly endemic areas. The vaccination of nonimmune native populations must be strongly recommended.

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

This study presents the update results of an ongoing project on the delineation of the spectrum of mutations at the Wilson disease (WD) gene in WD patients of Mediterranean origin. In studying 59 patients, of whom were 26 Continental Italians, 22 Sardinians, 9 Turkish, and 2 Albanians, we have found 31 novel and three known mutations. Of the novel mutations, 3 are deletions, two nonsense, 2 splice or consensus splice site, and 24 missense. The large majority of the missense mutations lie in evolutionary conserved regions of the WD gene of documented functional importance. Most of our patients were compound heterozygotes, and only a few were homozygotes. In addition, three polymorphisms were detected. By adding the new data to those previously reported by our group, we have to date detected 85% of mutations in the WD chromosomes from Continental Italians, 30% from Sardinians, 81.7% from Turkish and 66.7% from Albanians. Most of the mutations characterized are rare, and only a limited number are common. Of the common mutations 5 were found in Continental Italians, two in Sardinians and a single one in Turkish. Because there are so many causative mutations of the disease, the preclinical and prenatal diagnosis of WD should be carried out by a combination of mutation and linkage analysis.

[Chronic idiopathic hypertransaminasemia]. / Ipertransaminasemia cronica idiopatica.

The elevation of aminotransferase serum levels is frequently encountered in pediatric practice. We have retrospectively evaluated the clinical patterns of 108 patients with chronic, so called "idiopathic", alterations of aminotransferases, by sending a questionnaire to 11 Italian Pediatric Centers. The average period of follow-up was 22 months. Patients, whose ages ranged through all pediatric ages, were mostly asymptomatic and with a rather insignificant physical examination. The average rise of aminotransferases value was generally limited within 2 times the upper normal level and the highest value, during the period of follow-up, never exceeded 5 times the upper normal level. Other liver function tests did not result generally altered significant. Just 25,9% of the patients normalized aminotransferases serum level during the follow-up period. All maintained good physical status with no clinical signs of liver disease. A muscular cause of hyper-transaminasemia was excluded in all the cases. Possible infective causes (HBV and HCV) autoimmune hepatitis, Wilson disease, alfa1 antitripsine deficiency and hyperammoniemia were excluded. Ultrasound investigation did not seem to be a sensitive investigation, resulting negative in 54/82. Histologic liver examination was more informative. This evaluation, performed in 46/108 patients, showed infarct metabolic alterations (steatosis, nucleus glucogenic degeneration, cytoplasmatic clarification) in 65% of cases and inflammatory findings in only 13% of cases. In conclusion, our results suggest the opportunity to enclose liver histologic study in the diagnostic approach of children with hepatic idiopathic chronic hypertransaminasemia. This approach may address the clinician, in a more aimed way, towards further investigations.

[Chronic therapy with ursodeoxycholic acid in a child with Alagille syndrome]. / Terapia cronica con acido ursodesossicolico in un bambino affetto da Sindrome di Alagille.

The effectiveness of oral bile acid therapy with ursodeoxycholic acid (10 mg/kg/day) was investigated in a 10 year old boy affected by Alagille's Syndrome, a chronic cholestatic disorder due to congenital hypoplasia of the intrahepatic biliary ducts. Cholestatic and hepatonecrotic indices were measured before and during ursodeoxycholic acid therapy and 1 month after stopping and 36 months after restarting the treatment. Ursodeoxycholic acid led to a marked improvement in the cholestatic and hepatonecrotic parameters which was maintained during all the treatment phase. Pruritus and steatorrhea disappeared during the treatment with ursodeoxycholic acid. Histological examination of the liver biopsy after the treatment revealed a disappearance of the biliary plugs but without increasing he intrahepatic bile ducts. The results suggest that ursodeoxycholic acid may improve the condition of the children affected by Alagille's Syndrome, specially when the liver transplantation is required, and indicate a need for long term studies in a larger number of patients.

[Non-ketotic hypoglycemia caused by carnitine palmitoyl transferase 1 deficiency]. / Ipoglicemia non chetotica da deficit di carnitina palmitoil trasferasi 1.

A 9-year-old girl was referred to our hospital after recurrent episodes of hypoglycemia, altered consciousness and persistent vomiting without acetonemia or myopathic symptoms. Other pertinent laboratory data included elevated BUN, hyperammonemia and very low levels of triglycerides with elevated free fatty acids. The patient was born from unaffected but related parents (second cousins) and the illness was previously diagnosed as Reye encephalopathy. Recurrence of similar attacks suggested an underlying metabolic disorder. Several syndromes of impaired FFA beta oxidation were taken into account and discarded successively after laboratory investigations: systemic carnitine deficiency, Medium and Long Chain Acyl-CoA Dehydrogenase deficiency and Multiple Acyl CoA Dehydrogenation deficiency (Glutaric aciduria, Ethylmalonic-adipic aciduria and riboflavin-responsive multiple acyl CoA dehydrogenation deficiency). Urinary and hematic gas-chromatography and Mass-Spectrometry show no abnormality in Medium Chain fatty acids and in C6-C10 dicarboxylic acids. Carnitine plasma concentrations (both total and free) were above normal levels while in urine acetyl carnitine was low in respect to longer acyclic radicals. Among metabolic defects located at the level of hepatic fatty acid oxidation, only Carnitine Transferase deficiency can explain this peculiar mosaic of data (precursors of the blocked reaction are elevated in blood whereas lack of the metabolites derived uniquely from this reaction explains all the clinical manifestations).

Oral bile acid treatment and the patient with Zellweger syndrome.

The cerebrohepatorenal syndrome of Zellweger is a congenital syndrome of multiple manifestations, including hepatomegaly and liver dysfunction. Treatment is generally of a supportive nature, aimed at improving nutrition and growth, controlling the central nervous system symptoms and limiting progression of liver disease. Because the liver disease in Zellweger syndrome may be attributed to an overproduction and accumulation of cholestanoic acids, exacerbated by diminished primary bile acid synthesis, we hypothesized that primary bile acid administration would be beneficial in improving liver function by a mechanism involving down-regulation in the synthesis of these atypical bile acids. We report here the clinical and biochemical responses to primary bile acid administration in a 2-mo-old boy who was seen with the typical signs of Zellweger syndrome. Liver disease was evident from hepatomegaly and elevated serum liver enzymes and bilirubin. The diagnosis was supported by markedly elevated serum very long chain fatty acids and the bile acids dihydroxycholestanoic acid and trihydroxycholestanoic acid. Confirmation of the lack of peroxisomes was established by electron microscopy. When the patient was 6 mo old, the primary bile acids cholic acid and chenodeoxycholic acid, (100 mg each/day) were administered orally. A significant improvement in biochemical indices of liver function occurred with a normalization of the serum bilirubin and liver enzymes and a histological improvement in the extent of inflammation and bile duct proliferation and disappearance of cannalicular plugs. Serum and urinary cholestanoic acids showed a significant decrease within a few days. A striking and sustained increase in growth was observed after therapy, and an improvement in neurological symptoms was noted. In conclusion, this study indicates that primary bile acid therapy improves liver function and growth in the patient with peroxisomal dysfunction and should be considered in the supportive therapies for this condition.

[Comparison of two methods to determine beta-lactoglobulin antibodies in children with cow's milk protein intolerance]. / Comparazione tra due metodiche di determinazione degli anticorpi anti-beta-lattoglobulina in bambini affetti da intolleranza alle proteine del latte vaccino.

In the last years the evaluation of IgG against beta-lactoglobulin (beta LG-IgG) has been proposed as reliable test to diagnose Cow's Milk Protein Intolerance (CMPI). This test, associated with other diagnostic tools (such as eosinophilia, hemoccult, RAST, challenge, etc.) showed a good sensibility, but less specificity. In fact antibodies against beta-lactoglobulin were found in other gastrointestinal diseases (coeliac disease, inflammatory bowel diseases, cystic fibrosis, etc.). To determine the specificity of the test some Authors attributed great importance to the laboratory method (IFL, ELISA). They retained IFL more specific. In order to verify the behaviour of the two methods and their concordance we carried out a double bind determination of IgG against beta-lactoglobulin (beta LG-IgG) on serum samples from children affected by CMPI. For this study we chose 16 children, aged from 3 months and 6 years, suffering from CMPI of which 11 with gastrointestinal complaints and 5 from extraintestinal ones. All children were diagnosed on the basis of the following criteria: clinical picture, blood eosinophilia, positivity of hemoccult, amelioration after the withdrawal of cow's milk proteins from the diet, positivity of challenge test. All children at the time of the assessment assuming a diet containing cow's milk proteins. beta LG-IgG were measured using simultaneously immunofluorescent and micro-ELISA methods. The obtained data showed that 12 children (75%) had IgG versus beta-lactoglobulin in the serum. This result was obtained both with IFL and ELISA methods, showing a 100% of concordance.(ABSTRACT TRUNCATED AT 250 WORDS)

[Possible correlations of Berger's disease and Schonlein-Henoch purpura]. / Possibili correlazioni tra malattia di Berger e porpora di Schönlein-Henoch.

A case of IgA nephropathy is described. The patient had only an attack of Henoch-Schonlein purpura without renal involvement when she was 7 years old. After 6 years of normal urinalysis she developed repeated bouts of gross hematuria and proteinuria. In renal biopsy typical features of Berger's disease were found. This particular case permits to debate whether the two diseases suffered by our patient were related or quite different.

[Immunofluorescence in the determination of gliadin antibodies in celiac disease]. / Il dosaggio degli anticorpi antigliadina con immunofluorescenza nella malattia celiaca.

IgG gliadin antibodies (AGA-IgG) were detected by immunofluorescence in 78 celiac children diagnosed by jejunal biopsy. AGA-IgG were also detected in patients affected by other gastrointestinal disease, in patients with diabetes, in health children and in children with normal mucosa. AGA-IgG were found in 81% of celiac patients, while they were not detected in patients affected by other intestinal or extraintestinal diseases, neither in healthy controls. It is conclude that determination of AGA-IgG is a very specific and sensitive enough screening test before small intestinal biopsy.

[Cranial injuries in childhood. Experience in 500 cases]. / Traumi cranici in età pediatrica. Esperienza su 500 casi.

We studied 500 cases of head injury in children from 0 to 12 years of age, to investigate the relationship between clinical signs and symptoms and the results Rx, EEG, F.O. and TAC.