Mariano Antonelli

Effect of a medium dose of ursodeoxycholic acid with or without taurine supplementation on the nutritional status of patients with cystic fibrosis: a randomized, placebo-controlled, crossover trial

Ursodeoxycholic acid administration has been reported to improve cholestasis and inflammatory activity in primary biliary cirrhosis and, in an uncontrolled study, also in young adults with cystic fibrosis (CF) and chronic cholestasis. As an improvement in nutritional status was also observed in these young adult patients, we investigated whether the administration of a medium dose of ursodeoxycholic acid ameliorates the nutritional status of malnourished young adult CF patients with chronic liver disease. The study included 51 patients (27 male patients and 24 female patients; age range, 8–32 years; median, 14) with body mass percentiles < 90%. Patients were randomly assigned to receive either ursodeoxycholic acid (10–12 mg/kg/day) alone or with taurine (18–22 mg/kg/day). Patients were followed in a crossover fashion within each group; 6 months of treatment was randomly alternated with 6 months of placebo. Nine patients dropped out before concluding the study. Liver function tests, nutritional status, and coefficients of fat absorption were determined at entry and after each 6 months of placebo or treatment. Nutritional status and fat absorption were not significantly modified by either treatment. Liver function tests improved after ursodeoxycholic acid administration only in patients with concomitant chronic liver disease. Our findings indicate that 6 months of therapy with a medium dose of ursodeoxycholic acid, either alone or with taurine, does not improve the nutritional status of young malnourished CF patients. Higher doses given for longer periods might be worth investigating.

Intramedullary teratoma: case report and review of the literature.

Aims and Background Intramedullary teratoma is an extremely exceptional tumor (5 cases), although a careful review of international literature has shown it to be more frequent (32 cases) than believed. Methods The authors present a personal case with some unusual aspects. Results Our case is unusual not only because it was diagnosed by MRI (only one case has been reported in the literature) but also because surgical removal of the tumor was apparently total (only 4 other cases have been described), with a long follow-up period (4.5 years) and excellent results, in clinical and neuroradiologic terms.

Comparison of two different protocols of neonatal screening for cystic fibrosis

The results of two different protocols of neonatal cystic fibrosis (CF) screening in the Lazio region of Italy are reported. The first study, conducted from 1992 to 2000 on about 200,000 newborns, consisted of an immunoreactive trypsin (IRT) protocol without mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, referred to as the IRT/IRT protocol. Approximately 5% of the newborns with a positive first IRT test were also positive at the second test; approximately 57% of the newborns with a high IRT level at the second test were subsequently found to be affected by CF. In September 1998, a second protocol that included mutation analysis (IRT/DNA/IRT protocol) was started. Comparison of the two different screening protocols in terms of sensitivity in detecting CF patients demonstrated that the IRT/DNA/IRT protocol is more effective because it is able to detect a higher number of CF patients than the IRT/IRT protocol. In the same period, in addition to the overall diagnosis performed on a screening basis, 64 other subjects were identified as being affected by CF on the basis of symptomatic findings. The overall incidence of CF (screening + symptoms) was 1 : 2982, while that for carriers was 1 : 27. The sensitivity of the screening program increased over the period from 1992 to 2000, with the enhanced sensitivity in the past 2 years being due to the introduction of the IRT/DNA/IRT protocol.

Entomophthoromycosis due to Basidiobolus in Somalia

The clinical picture, histopathology of the lesion, microscopic identification of fungus and treatment of entomophthoromycosis due to Basidiobolus in a seven-year-old boy are described. This is the first case recognized in Somalia and confirms that this condition is common and widely distributed in tropical countries.

The role of MRI in the intestinal complications in cystic fibrosis

Fibrosing colonopathy is a complication recently detected in children with cystic fibrosis (CF), and is thought to be associated with the use of high-strength pancreatic enzymes. The goal of this study was to evaluate the effectiveness of magnetic resonance (MR) in detecting possible pathologic gut findings in patients with CF under pancreatic enzyme treatment. Twenty-five patients with CF and pancreatic insufficiency, all under treatment with high-dose pancreatic enzymes, were studied by MR. MR was performed on a 1.5-T magnet by T1-weighted, 2D-FLASH fat-suppression, breath-hold sequences before and after intravenous administration of gadolinium, and by T2-weighted Turbo Spin-Echo (TSE) and Half-Fourier Acquisition Single-Shot Turbo Spin Echo (HASTE) fat-suppression, breath-hold sequences. A superparamagnetic negative oral contrast agent was given 1.5 h before the examination. MR showed a wall thickening of the terminal ileum and the ascending colon (>4-12 mm) in 22 patients; nine of them (wall thickness >4-6 mm) showed both a moderate hyperintensity of the bowel wall on T2-weighted sequences and an enhancement after intravenous gadolinium on T1-weighted sequences; 13 patients (wall thickness >6-12 mm) showed both a great wall enhancement after intravenous gadolinium and an increased signal intensity of the bowel wall on T2-weighted sequences. Fecal impaction without bowel wall involvement was detected in three patients. MR proved to be a useful, noninvasive, diagnostic tool for the evaluation of patients with CF and fibrosing colonopathy. The signal hyperintensity on T2-weighted sequences and the great wall enhancement after intravenous gadolinium administration indicating an acute edematous condition, provide the clinicians useful information for the therapeutic adjustment.

Sonographic survey of the upper abdomen in 10 families of patients with immotile cilia syndrome

Ten patients affected by the immotile cilia syndrome (ICS) and their families received an ultrasound examination of the upper abdomen to observe the possible familial occurrence of biliary, pancreatic, and splenic alterations. In 9 patients the liver was localized in the left hypochondrium, and in 1 patient there was an accessory spleen. In all the examined kin, the subdiaphragmatic organs were normally positioned. Two parents had an accessory spleen. We conclude that the supposed increased frequency of polysplenia, asplenia, and biliary atresia among ICS subjects and their kin is overestimated and based only upon anecdotal reports.

Tethered Cord Syndrome

Summary:Tethered cord syndrome (TCS) is a clinical-neurological condition caused by an abnormally low conus medullaris, frequently defined as a malformative sequence of a dysraphic pathology. Clinical onset generally occurs in early childhood; adult onset is rare, accounting for ˜6% of cases. In the adult form, a triggering factor plays a determining role in the onset of symptoms. The clinical and neuroradiological features of this syndrome are discussed together with surgical outcome, pointing out the differences between the two age groups.