DNA fragmentation is a feature of cystic fibrosis epithelial cells: a disease with inappropriate apoptosis?

Cystic fibrosis (CF) is a single-gene disease caused by mutations in the CFTR gene, which result in disrupted chloride secretions with inspissated mucous secretions by exocrine glands. Nick-end labelling was used to assess DNA fragmentation in 14 CF and 24 control duodenal samples, and in two CF and two control lung tissues. In CF small intestine median 46% (range: 30-82) villus enterocytes show DNA fragmentation (vs. 3% (range: 1-7) in controls P < 0.001) and median 37.5% (range: 23-79) crypt enterocytes show Ki67 antigen (P < 0.001). In CF airways 57% (range: 54-70) of epithelial cells show DNA fragmentation. Inappropriate high DNA fragmentation is a feature of various CF epithelia. This could have great impact in understanding the mechanisms leading to disease.

Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.

The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease, as demonstrated by laboratory and imaging data. This case adds to the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected.

Clinical comparison of cefaclor twice daily versus amoxicillin-clavulanate or erythromycin three times daily in the treatment of patients with streptococcal pharyngitis.

The present study was undertaken to compare the efficacy and safety of a new regimen of cefaclor (25 mg/kg BID) with amoxicillin-clavulanate and erythromycin TID at standard doses for the treatment of pediatric patients with acute pharyngotonsillitis (APT). A total of 673 children (age range, 2 to 12 years) with signs and symptoms of APT were enrolled; 245 of these children who had a positive throat culture for group A beta-hemolytic streptococci (GABHS) entered the study and were randomly assigned to receive cefaclor 25 mg/kg BID, amoxicillin-clavulanate 15 mg/kg TID, or erythromycin 15 mg/kg TID. A 10-day antibiotic course was prescribed for each patient. Clinical and bacteriologic responses were assessed at the end of treatment (day 10) and at the follow-up visit (day 30). All GABHS strains isolated from throat cultures were tested for in vitro sensitivity to the antibiotics used in the study. Side effects (mainly nausea) were rare and mild in each group and did not require discontinuation of therapy. No GABHS strain was resistant to cefaclor or to amoxicillin-clavulanate; 37.9% of the strains were resistant to erythromycin. The results indicated that cefaclor given BID seems to be as effective as amoxicillin-clavulanate given TID (cure rate, 91.9% and 90.5%, respectively) and more effective than erythromycin given TID (cure rate, 76.8%) for the treatment of patients with APT. Erythromycin resistance among GABHS is an emerging problem in many geographic areas.

[Beta-haemolytic group A streptococcal acute pharyngo-tonsillitis in pediatric patients: a clinical and epidemiological study]. / Le faringo-tonsilliti acute da Streptococco beta emolitico di gruppo A in eta pediatrica: studio clinico-epidemiologico.

Authors compared the efficacy and safety of 10-day regimen of Cefaclor (CEC), oral suspension, at the dose of 25 mg/kg BID, and Amoxicillin/clavulanic acid (AMC), and Erythromycin (E) both given TID at the dose of 15 mg/kg in the treatment of proven group A beta hemolytic streptococcal pharyngo-tonsillitis. Of the 673 enrolled pediatric patients, 245 were selected and assigned to three groups of treatment (85 received CEC, 78 received AMC and 82 received E) and 217 were evaluated for efficacy. Clinical evaluations were performed on days 5 and 10 of treatment and 20 days after its completion (follow up). Before treatment, on treatment day 10 and at follow up throat swab cultures were performed. In evaluable patients the post-therapy clinical success and bacteriological eradication rate for CEC was 91.8% (68 of 74 evaluable patients); the rate for AMC and E were 90.5% (67/74) and 76.8% (53/69) respectively. At follow up bacteriological eradication was observed in 63 of 68 clinically cured patients (92.6%) in the CEC treatment group; in 64 of 67 (95.5%) in the AMC treatment group and in 49 of 53 (92.4%) in the E treatment group. Adverse events occurred in 24 of 217 (11.05%) treated patients and the incidence of side effects was lower in CEC group. In vitro sensitivity tests showed 37.9% of isolated SBEGA strains resistant to macrolides and 32% of SBEGA strains resistant to tetracycline. In our experience Cefaclor administered BID is as effective and more safe than Amoxicillin/clavulanic acid and more effective than Erythromycin both given TID.

[Sweat-gland function in patients with X-linked ichthyosis]. / Studio della funzionalità sudoripara in pazienti con ittiosi X-linked.

Literature reports that patients affected by X-linked ichthyosis (XLI) have a reduction of sweat glands and a decrease of sweat production. The sweat physiology of 28 patients, 14 with XLI, 7 with lamellar ichthyosis, 7 with dominant ichthyosis and 28 control subjects were examined with sweat test, performed by pilocarpine iontophoresis. In the same patients we have performed skin biopsy to evaluate quantitative and qualitative reduction of sweat glands.

[Jejunal biopsy]. / La biopsia digiunale.

Considering many years' experience in various centres, the authors evidence indications, contraindications, and possible technical inconveniences relative to jejunum biopsy. They analyze various aspects concerning the rightest methods of performance particularly concerning the patient's sedation and immobilization, the local anaesthesia of the back pharynx, techniques facilitating the placement of the capsule the sampling of the mucosa (mucous membrane) and the recovery of the capsule. Then the authors examine the criteria of evaluation of the biopsy sample through both stereomicroscopical and traditional microscopical examinations. They analyze the main parameters in the histological evaluation of biopsy and the basic conditions to observe in order to evaluate histological aspects correctly. Finally they propose a score of histological evaluation, for quick, easy routine use; its results can be reproduced in accordance with traditional histological reading which allows examiners from different centres to confirm their judgements about the atrophy of the mucosa and enables more significant comparisons in case of biopsy repeated on the same subject.

[Preliminary verification of a mathematical model for evaluating the operative risk in a personal caseload]. / Prime verifiche di un modello matematico di valutazione del rischio operatorio effettuate su una casistica personale.

The authors applied a mathematical model of evaluation of operative risk to a group of patients undergoing general and obstetric-gynecologic surgery. They verified that all risk factors identified by this mathematical model really influenced operative morbidity and mortality in the present study too. In this univariate analysis, anesthetic technique was found to influence patients' outcome, so it must be included in multivariate analysis protocols. Therefore, this mathematical model showed to be of value in assessing operative risk factors.