Effect of dentofacial deformity on maximum isometric tongue strength.

The objective of this study was to determine whether dentofacial deformities (class II and class III) influence maximum isometric tongue strength compared with a group without deformities. A total of 126 adult patients participated in the study. Of these, 45 had a class II diagnosis (14 men and 31 women) and 81 a class III diagnosis (35 men and 46 women), all of them with indication of orthognathic surgery. Fifty adult volunteers (17 men and 33 women) with no changes in dental occlusion (class I) and with no clinical signs of dysfunction of the temporomandibular joint represented the control group. Tongue strength (in N) was measured with a dynamometer. The maximum strength of the anterior portion was determined with the instrument positioned on the retroincisor region and the maximum strength of the dorsum with the instrument positioned in the region of the hard palate. Data were analysed statistically by analysis of variance (anova) and by the Pearson correlation test. No significant difference (P > 0·05) in tongue strength in the anterior or dorsal region was observed between the groups with dentofacial deformities or between these groups and the control. The tongue strength of the anterior and dorsal regions was not influenced by the dentofacial deformity.

Management and outcomes of hepatic cirrhosis: Findings from the RING study.

BACKGROUND/AIM: Hepatic cirrhosis is a frequent reason for ordinary hospital admission (OA). The RING study collected hospital discharge files (HDF) from Italian hospital gastroenterology units (IGU). This caselist provides a broad picture of the patients admitted for this pathology. MATERIAL/METHODS: More than 50,000 HDF for OA were collected between 2001 and 2004 from 26 IGU. RESULTS: Eight thousand four hundred and eighty-seven HDF (16%) had a diagnosis of hepatic cirrhosis; Child-Pugh classes were 20.2% A, 34.8% B and 45.0% C. Patients' mean age was 63.7+/-12.1 years and 62.5% were male. A 61.1% of the cirrhosis cases had ascites, 29.9% portal-systemic encephalopathy, 29.2% hepatocellular carcinoma (HCC), 10% bleeding varices, 3.0% hepatorenal syndrome (HRS). Mortality for OA for cirrhosis was 5.7% versus 2.6% for other diagnoses. The proportion varied with the severity of the cirrhosis: 0% for Child A, 1.1% B, 10.5% C. Mortality was significantly associated with: Child-Pugh at admission (odds ratio: OR 9.2), HRS (OR 11.7), bleeding varices (OR 2.2), HCC (OR 1.8). CONCLUSIONS: Hepatic cirrhosis was found in 16% of the OA to IGU and mortality was double the rate for all the other pathologies in the same wards. Child-Pugh is a useful prognostic tool, higher classes implying a greater risk of death. HRS and bleeding varices were the complications with most influence on in-hospital mortality.

Interventional radiology techniques in the treatment of complications due to videolaparoscopic cholecystectomy.

INTRODUCTION: The development of videolaparoscopic cholecystectomy (VLC) has represented an important achievement in the search for minimally invasive surgical procedures, and especially in the surgical management of such a common and costly disease as cholelithiasis. However, the literature shows that, while VLC carries a similar mortality rate to open surgery, it has a greater incidence (2-5 times) of iatrogenic injury to the biliary tract and hepatic hilum [3, 5, 10, 25, 28]; this incidence further increases in cases of so-called "hard cholecystis" [10, 13, 25, 28, 30]. An equally minimally invasive technique is therefore needed to treat these lesions; this technique should be effective and safe, allow for shorter hospital stays and lower costs, and be made available at all the centres where VLC is performed. MATERIAL AND METHODS: We evaluated 60 patients (28 women and 22 men, age range 41-71) with 24 peritoneal collections (14 bilomas, 10 abscesses), 35 biliary stenosis (clips, chronic-developing lesions), and 2 vascular lesions as direct iatrogenic post-LC injuries. The most frequent clinical symptoms were jaundice, pain, sepsis, abdominal distension, and abdominal colic due to retained common bile duct stones. We carried out 60 percutaneous biliary reconstruction procedures, 44 biliary drainages (4 internal, 4 external), 6 combined radiological-endoscopic approaches with the Rendez-Vous technique, and 2 embolisations. RESULTS: All procedures had 100% technical success; the biliary reconstruction procedures had a 2% morbidity rate (sepsis, cholangitis). The clinical emergencies (choleperitoneum, haemoperitoneum, severe jaundice) resolved in 72 hours for 55 of the 60 patients (92%). The combined percutaneous-endoscopic procedures with the biliary Rendez-Vous technique were successfully performed in 5 out of 6 cases, allowing reconstruction of bile duct continuity and remission of symptoms, without the need to resort to surgical anastomosis. At a recent follow-up of the patients who had been managed only percutaneously, one showed patency of the bile ducts and had the stent removed after 18 months, and two showed optimal functioning of the stent that was still in place after 5 and 8 months respectively; two patients were lost to follow-up. Primary biliary patency at 60 months from biliary reconstruction was 75%. Maximum and immediate dilatation was obtained at the first attempt in most cases. Reoperation was avoided in 59 out of 60 patients. Only one patient with full transection of the common bile duct was reoperated on after insertion of a biliary drainage catheter. The overall length of hospital stays was between 1 and 4 weeks. CONCLUSIONS: Interventional radiology carried out according to indications seems to be the most natural way to treat the complications of VLC. It spares the patients, who opted for a minimally invasive technique like VLC, the need to undergo open surgery, and allows for shorter hospital stays and more efficient cost management for the hospital.

Primary cancer of the urinary bladder: CT evaluation of the T parameter with different techniques.

The evaluation of mural invasion (T) in primary urinary bladder carcinoma is important in the planning of an appropriate surgical or radiochemotherapeutic strategy. Previous investigators using computed tomography (CT) have evaluated the bladder filled with urine, urine opacified with iodinated contrast material, or air insufflation. The purpose of this trial was to establish which of these three techniques was the most accurate by comparing data obtained in postoperative staging (pT). Sixty-five patients with primary bladder cancer were enrolled, all of whom were studied by spiral CT with these three techniques. Patients were assigned to four stage groups: Ta-T1, T2-T3a, T3b, and T4. The results demonstrated total accuracies of 95% for the air-insufflated bladder, 90.5% for opacified urine, and 87% for noncontrast studies. In conclusion, the air-insufflated bladder is the more accurate technique in the evaluation of the T parameter in primary bladder cancer, especially in the first and third stage groups.

Neonatal screening for cystic fibrosis: long-term clinical balance.

BACKGROUND/AIMS: Very few studies have been performed on the long-term clinical advantages of neonatal screening programs for cystic fibrosis (CF) and these have been inconclusive. This is a preliminary report of two observational cohort studies on this subject. METHODS: In the first study, CF patients born between 1973 and 1981 in northeastern Italy were split into 4 groups according to the modality of diagnosis: screening by meconium test (58 patients); meconium ileus (45 patients); symptoms and pancreatic insufficiency (PI; 75 patients), or symptoms and pancreatic sufficiency (PS; 19 patients). The patients were followed for up to 26 years by three CF centers sharing common treatment protocols. In the second study, two cohorts of CF patients born between 1983 and 1992 were compared. Patients from one cohort (126 patients) were born in the Veneto region, where a neonatal screening program had been established based on immunoreactive trypsinogen. Patients from the other cohort (152 patients) were born in Sicily, where an intensive program of early diagnosis by symptoms was implemented. The cohorts were comparable for CF incidence, CFTR genotypes, gender proportion and common treatment protocols. Statistical analyses were performed by Kaplan-Meier survival curves, a Cox proportional hazard model for survival and cross-sectional comparisons by 2-year periods for weight z score, height z score and body mass index. RESULTS: In the first study, the patients detected by newborn screening (PI) showed better survival and nutritional status compared to patients diagnosed through meconium ileus or symptom presentation with PI. PS patients diagnosed by symptoms showed the best outcome, but most of them had a mild genotype. In the second study, the Veneto cohort showed better outcome with regard to survival and nutritional status over 16 years of follow-up. CONCLUSIONS: Observational cohort studies cannot give definitive evidence of the clinical benefit of neonatal CF screening; however, data have been accumulated which strongly suggest a better clinical outcome for CF patients born in an area where a screening program is performed.

Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element.

In monosymptomatic forms of cystic fibrosis such as congenital bilateral absence of vas deferens, variations in the TG(m) and T(n) polymorphic repeats at the 3' end of intron 8 of the cystic fibrosis transmembrane regulator (CFTR) gene are associated with the alternative splicing of exon 9, which results in a nonfunctional CFTR protein. Using a minigene model system, we have previously shown a direct relationship between the TG(m)T(n) polymorphism and exon 9 splicing. We have now evaluated the role of splicing factors in the regulation of the alternative splicing of this exon. Serine-arginine-rich proteins and the heterogeneous nuclear ribonucleoprotein A1 induced exon skipping in the human gene but not in its mouse counterpart. The effect of these proteins on exon 9 exclusion was strictly dependent on the composition of the TG(m) and T(n) polymorphic repeats. The comparative and functional analysis of the human and mouse CFTR genes showed that a region of about 150 nucleotides, present only in the human intron 9, mediates the exon 9 splicing inhibition in association with exonic regulatory elements. This region, defined as the CFTR exon 9 intronic splicing silencer, is a target for serine-arginine-rich protein interactions. Thus, the nonevolutionary conserved CFTR exon 9 alternative splicing is modulated by the TG(m) and T(n) polymorphism at the 3' splice region, enhancer and silencer exonic elements, and the intronic splicing silencer in the proximal 5' intronic region. Tissue levels and individual variability of splicing factors would determine the penetrance of the TG(m)T(n) locus in monosymptomatic forms of cystic fibrosis.

[Italian Cystic Fibrosis Registry: 10 years of activity]. / Registro Italiano Fibrosi Cistica: 10 anni di attività.

Cystic Fibrosis (CF) is a recessive autosomic genetic disease with an incidence in mediterranean countries of about 1:3500 born alive. In Italy the considerable genetic variability makes it difficult to identify all the homozygous subjects and, consequently, to estimate the incidence of the disease in healthy carriers. The disease is evolutive and affects various systems, most of all the respiratory and gastrointestinal systems. Not many years ago, when the clinical definition of CF was first introduced, average survival did not exceed the pediatric age. Nowadays with ever advancing diagnostic and therapeutical techniques many CF patients survive until an adult age. It is therefore necessary to plan adequate health service interventions so as to satisfy as much as possible the needs of both the patients and their families. To this end data collected since 1.1.1988 by the Italian registry for CF (year of birth, sex, region of birth and residence, diagnosis procedures, results of sweat test, pancreatic insufficiency, DNA analysis, status: alive, dead, lost to follow up) of all the patients, diagnosed in the 18 Reference Centres and the 3 local Centres for CF, have proved to be extremely useful. Since the birth of the Registry on 31.12.1997, data relating to 2458 patients alive on 1.1.1988 and 1159 born during the last ten years, for a total of 3617 subjects (1756 females and 1861 males), have been recorded. As already mentioned a considerable increase in life expectancy of CF patients (from 1988 to 1990 the average age of death was 14 years, from 1994 to 1997 it was 19) and a consequent increase in the percentage of adult patients have been observed.

Mesalazine foam (Salofalk foam) in the treatment of active distal ulcerative colitis. A comparative trial vs Salofalk enema. The SAF-3 study group.

BACKGROUND: Mesalazine enemas are of well proven efficacy for the topical treatment of distal ulcerative colitis. Although new rectal formulations of mesalazine are not expected to be superior in efficacy and tolerability to standard formulations, they may offer secondary advantages in terms of overall acceptability. AIM: To compare the efficacy, tolerability and overall acceptability of a new mesalazine rectal foam (Salofalk foam) with mesalazine enema in the treatment of active distal ulcerative colitis. PATIENTS AND METHODS: A multicentre study was carried out in patients with active proctitis, proctosigmoiditis and left-sided ulcerative colitis as evaluated by the Clinical Activity Index (CAI > or =4) and Endoscopic Index (EI > or =6). Patients were randomly assigned to receive, in open-label fashion, either mesalazine foam 2 g twice a day or mesalazine enema (2 g/60 ml twice a day) for 3 weeks. Patients who did not achieve remission (defined as CAI <4 and EI <6) after 3 weeks continued the study receiving the alternative galenic formulation for a further 3 weeks. RESULTS: A total of 195 patients were enrolled. Characteristics at baseline were similar except for concomitant therapy with oral 5-ASA products: during the 1st treatment phase, 41% of patients on enema received such treatment vs only 29% of those on foam. Patients with at least one post-treatment efficacy evaluation were included in the intent-to-treat analysis (n=89 foam, n=96 enema). After 3 weeks of treatment, 112 patients were in remission and only 59 patients entered the 2nd treatment phase thus providing data on acceptability. Remission was achieved after 3 weeks in 54% of patients treated with foam and in 67% of those treated with enema. The 90% confidence interval for the difference in remission rates was 0 to 24 and thus within the clinically acceptable range of therapeutic equivalence. At the end of the 2nd phase, 70% of patients switched to foam were in remission vs 65% to the enema. Two patients discontinued treatment with foam prematurely due to anal burning. No clinically important changes were seen in the laboratory tests. CONCLUSIONS: Salofalk foam and enema are equally effective for the treatment of proctitis, proctosigmoiditis and left-sided ulcerative colitis. The new foam preparation is as well tolerated and accepted as enemas and can be used as a therapeutic alternative to conventional mesalazine enema formulations.

Role of ultrasonography in the diagnosis of postsurgical recurrence of Crohn's disease.

OBJECTIVE: Ultrasonography is a valid tool in the diagnosis of Crohn's disease, but its sensitivity, specificity, and overall accuracy in the diagnosis of postoperative recurrence are still not well established. The aim of this study was to evaluate the accuracy of ultrasonography compared with endoscopy in the diagnosis of postoperative recurrence of Crohn's disease. METHODS: Forty-seven patients resected for Crohn's ileitis were studied by ultrasonography and colonoscopy to detect possible recurrence of the disease; 10 patients operated on for cancer of the right colon were used as controls. Six patients with Crohn's disease were excluded from the study because of failure to endoscopically reach the anastomosis; the remaining 41 patients had both ultrasonography and colonoscopy over a period of 14 days. Sonographic recurrence was defined as the presence of >5 mm thickness of the ileal wall. RESULTS: Sensitivity, specificity, and overall accuracy of ultrasonography in diagnosis of postoperative recurrence were 81%, 86%, and 83% respectively. Positive predictive value was 96% and negative predictive value was 57%. CONCLUSION: This study is the first to assess the role of ultrasonography in comparison with endoscopy in detecting Crohn's disease recurrence after surgery. Our data suggest that ultrasonography should be used first in the case of clinical suspicion of Crohn's disease recurrence, reserving ileocolonoscopy for negative or uncertain cases.

Failure to thrive: the earliest feature of cystic fibrosis in infants diagnosed by neonatal screening.

The benefits of early treatment of nutritional and respiratory problems in the CF infant and of genetic counselling for the parents are widely recognized. However, clinical diagnosis of CF is often delayed despite early onset of symptoms and the usefulness of neonatal population screening as a preventive measure is still under debate. This study analyses the clinical history of CF patients diagnosed exclusively on the basis of positive neonatal screening tests with the aim of identifying the earliest markers of the disease. We studied 103 CF infants born in north-east Italy, diagnosed following neonatal screening: assay of immunoreactive trypsin (IRT) from a heel-prick blood sample followed by a measurement of meconium lactase in cases with raised IRT. Diagnosis was confirmed by sweat test at an average age of 39 days. Eighty-one patients (79%) had symptoms strongly suggestive of CF at diagnosis, and signs and/or symptoms of pancreatic insufficiency were present in 16 of the remaining 22 cases. The most frequent symptom was growth failure (69% of infants) and of these, 44% weighed the same as at birth or less. Pancreatic insufficiency was confirmed by the low level of faecal chymotrypsin found in 85% of cases. IRT was elevated in all cases. CF had not been suspected in any symptomatic infant, although most of the infants had been monitored by a paediatrician. In conclusion, most infants with CF diagnosed by neonatal screening are already symptomatic in the first six weeks of life and the most frequent symptom is failure to thrive; pancreatic insufficiency was already present in most cases. In areas without CF neonatal screening programs, the disease should be excluded by differential diagnosis in all cases with growth failure notwithstanding adequate caloric intake in the first months of life. The high sensitivity, low cost and simple execution of IRT and fecal chymotrypsin tests make them an ideal first step in suspect cases before proceeding to the sweat test, often performed late because of limited availability.

Clinical outcome of fetal uropathy. I. Predictive value of prenatal echography positive for obstructive uropathy.

Clinical followup was performed in 73 neonates with a prenatal echographic suspicion of uropathy. Of 42 patients with a prenatal suspicion of unilateral hydronephrosis only 15 had pathological obstruction and 2 had multicystic dysplastic kidneys. Among 10 infants with a prenatal suspicion of bilateral hydronephrosis only 1 had true bilateral obstruction and 2 had unilateral obstruction. In 2 patients hydroureteronephrosis seen on prenatal echography was due to massive bilateral vesicoureteral reflux. In this group there was also a multicystic dysplastic kidney and 1 patient with bilateral cystic dysplasia. There was a prenatal suspicion of cystic disease in 8 infants. Postnatally, diagnosis was multicystic dysplastic kidney in 2 patients and a simple renal cyst in 4. The remaining 2 neonates had obstructive uropathy. Finally, of 13 neonates with a prenatal suspicion of anatomical-echo-structural abnormalities a definitive abnormality could be established in only 8. The predictive value of prenatal echography positive for obstructive uropathy was 34.6%.

Development of a screening system for cystic fibrosis: meconium or blood spot trypsin assay or both?

High blood trypsin levels during early days of life are found in newborns subsequently diagnosed to be affected by cystic fibrosis. The authors compared the validity of the traditional meconium test with the blood immunoreactive trypsin (IRT) assay, carried out in parallel on 113,302 neonates from three regions of North-eastern Italy. The meconium test showed a sensitivity of 57.7%. The sensitivity of the IRT test was higher (96.1%). It was possible to identify by IRT 10 out of 11 false negative CFs at the meconium test. A shortcoming of neonatal IRT, however, is its low specificity; 1.6% of the newborns had to be retested. A new screening policy was therefore proposed and carried out on 69,640 newborns: the Lactase test (LACT) on meconium was introduced as a complementary assay in IRT positive newborns. If LACT exceeded 2 U/g dry meconium, a confirmatory sweat test was immediately requested; if LACT test was negative and IRT exceeded 85 micrograms/l, IRT was repeated. Postneonatal retesting values above 25 micrograms/l required a sweat test. As a result, the estimated prevalence of CF was 1:4,352, the sensitivity was 93.3%; the specificity turned out to be 99.6%, considering all false positive newborns investigated with retesting and/or direct sweat test.