Fertility in a i(Xq) Klinefelter patient: importance of XIST expression level determined by qRT-PCR in ruling out Klinefelter cryptic mosaicism as cause of oligozoospermia.

The presence of an isochromosome Xq in Klinefelter syndrome (KS) is an apparently rare condition. In all cases reported so far, patients showed the classic phenotype. We here describe a case of isochromosome Xq [47,X,i(Xq),Y] in a non-mosaic KS patient. The patient exhibited a normal androgenized phenotype, normal testes and normal cognitive abilities. Semen analysis revealed a medium oligozoospermia (5 x 10(6) spermatozoa/ml). After the patient underwent intracytoplasmic sperm injection, he generated two cytogenetically healthy normal females. Fluorescence in situ hybridization analysis showed the presence of a dicentric Xq chromosome that did not show the presence of residual Xp arm up to the 57,820,478 bp position (Xp 1.1) of X chromosome sequence. Preferential inactivation of Xq isochromosome was demonstrated by bromodeoxyuridine replication analysis and transcriptional silencing by DNA methylation at the HUMARA locus. Furthermore, we demonstrated by quantitative RT-PCR an active XIST RNA expression in blood lymphocytes from Klinefelter patients, comparable to that observed in control females and over 30,000-fold greater than in control males. In conclusion, this qRT-PCR approach could be useful for screening of prepuberty males and for diagnosis or exclusion of cryptic Klinefelter mosaics.

Bovine lactoferrin for Helicobacter pylori eradication: an open, randomized, multicentre study.

BACKGROUND: Cure rates for eradication of Helicobacter pylori appear to be decreasing, thus more effective therapies must be identified. AIM: To evaluate the efficacy of bovine lactoferrin in the treatment of H. pylori infection. METHODS: In a multicentered prospective study, 402 (mean age 52.4, range 19-84 years) H. pylori-positive patients were assigned to one of three regimens: group A - esomeprazole 20 mg b.d., clarithromycin 500 mg b.d. and tinidazole 500 mg b.d. for 7 days; group B - lactoferrin 200 mg b.d. for 7 days followed by the same schedule of group A; group C - esomeprazole 20 mg b.d., clarithromycin 500 mg b.d. and tinidazole 500 mg b.d. plus lactoferrin 200 mg b.d. for 7 days. RESULTS: Of the 402 patients, 389 completed the study. Six patients were discontinued due to side effects, one patient in group B died and six patients were lost to follow up. The eradication rate (intention-to-treat analysis) was 77% in group A (105/136), 73% in group B (97/132) and 90% in group C (120/134) (chi(2)-test P < 0.01). The incidence of side effects was 9.5% in group A, 9% in group B and 8.2% in group C (chi(2)-test P = 0.1). CONCLUSION: This study demonstrates that bovine lactoferrin is an effective adjuvant to 7-day triple therapy for eradication of H. pylori infection.

Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years.

Intractable epilepsy and peculiar EEG patterns characterize ring chromosome 20 syndrome [r(20)], while dysmorphic features, mental retardation and behavioural disturbances are widely variable. The clinical evolution of r(20) over time is not well defined as relatively few cases have been reported. Here we describe a patient with severe clinical features followed for a 25-year period. The patient was subjected to clinical, psychometric and EEG evaluation twice a year from the age of 21 years. Cytogenetic studies, using chromosome analysis and fluorescence in situ hybridization (FISH) and several immunological investigations were performed. Ring chromosome 20 was found in 50% of examined metaphases with the deletion of subtelomeric regions 20p and 20q. Our patient presented with marked dysmorphic features, severe mental retardation, tetraparesis, dysarthria and intractable epilepsy with onset during the first year of life. During follow up, EEG findings and clinical features progressively worsened: a progressive disorganization of background EEG activity occurred and mental and motor impairment evolved. The severity of clinical expression depended on the extent of chromosomal deletion and on the haploinsufficiency of other important related genetic loci due to ring instability. The progressive worsening of both clinical and EEG features over a long period, which has also been reported by other authors, further characterized this syndrome.

Incidence of, and risk factors for, nosocomial infections among hematopoietic stem cell transplantation recipients, with impact on procedure-related mortality.

OBJECTIVES: To determine the incidence of, and risk factors for, nosocomial infections (NIs) occurring among hematopoietic stem cell transplantation (HSCT) recipients during hospitalization and to evaluate the impact of these NIs on patient outcome. DESIGN: A two-year prospective observational study in two HSCT units. PATIENTS: All patients admitted to the HSCT units between February 1997 and March 1999. SETTING: A teaching hospital. METHODS: After admission to the HSCT units, the patients were followed prospectively on a daily basis to collect all pertinent variables for the development of NIs. RESULTS: 49 NIs were identified in 34 of the 143 patients screened. The incidence of NIs and infected patients was 34.2% and 23.7%, respectively. The incidence density of NI was 8.96 per 1,000 patient-days. The most frequent NIs were bloodstream infections ([BSIs], 42.8%) and respiratory tract infections (28.6%). Other sites involved were as follows: eye (8.2%), urinary tract (6.1%), gastrointestinal tract (6.1%), skin (4.1%), ear (2%), and central venous catheter ([CVC], 2%). Because of the predominance and clinical relevance of BSIs, we examined both intrinsic and extrinsic risk factors associated with these infections. Independent risk factors for BSIs were allograft from matched unrelated or partially matched family donor, graft-versus-host disease (GVHD) prophylaxis without methotrexate (MTX), type of CVC, and duration of total parenteral nutrition. Four variables were independently associated with mortality occurring during hospitalization: culture-proven BSIs, advanced disease phase at transplant, type of transplant, and absence of MTX for GVHD prophylaxis. CONCLUSIONS: The study identified several factors associated with increased risk of BSIs among HSCT patients. Because BSIs are life-threatening complications for HSCT recipients, preventive measures aimed at reducing the incidence of these infections among patients given HSCT should be adopted.

Cure of Helicobacter pylori-positive active duodenal ulcer patients: a double-blind, multicentre, 12-month study comparing a two-week dual vs a one-week triple therapy. GISU (Interdisciplinary Group for Ulcer Study).

AIMS: To compare a two-week dual therapy to a one-week triple therapy for the healing of duodenal ulcer and the eradication of the Helicobacter pylori infection. PATIENTS AND METHODS: A total of 165 patients with active duodenal ulcer were enrolled in the study. At entry, endoscopy, clinical examination and laboratory tests were performed. Histology and the rapid urease test were used to diagnose Helicobacter pylori infection. Patients received either lansoprazole 30 mg plus amoxycillin 1 g bid for two weeks (two-week, dual therapy) or lansoprazole 30 mg plus amoxycillin 1 g plus tinidazole 500 mg bid for one week plus lansoprazole qd for an additional week (one-week, triple therapy). Two and twelve months after cessation of therapy, endoscopy and clinical assessments were repeated. RESULTS: Duodenal ulcer healing and Helicobacter pylori eradication were both significantly greater (p<0.0001) in the triple therapy group (healing: 98.6%; Helicobacter pylori cure rate: 72.6%) than in the dual therapy group (healing: 77.3%; Helicobacter pylori cure rate: 33.3%). Ulcers healed more frequently in Helicobacter pyloricured than in Helicobacter pylori-not cured patients (94.9% vs. 77.2%; p<0.0022). After one year, Helicobacter pylori eradication was re-confirmed in 46/58 patients previously treated with the triple therapy and in 10/40 patients treated with the dual therapy [p<0.0001]. Only three duodenal ulcer relapses were observed throughout follow-up: all were in Helicobacter pylori-not cured patients. CONCLUSIONS: Triple therapy was more effective than dual both in curing Helicobacter pylori infection and healing active duodenal ulcers. The speed of ulcer healing obtained after only 7 days of antibiotics and 14 days of proton pump inhibitors confirmed that longer periods of anti ulcer therapy were not necessary. Helicobacter pylori -not cured patients had more slowly healing ulcers which were more apt to relapse when left untreated.

Prevalence of intestinal metaplasia in the distal oesophagus, oesophagogastric junction and gastric cardia in symptomatic patients in north-east Italy: a prospective, descriptive survey. The Italian Ulcer Study Group "GISU".

BACKGROUND: Incidence of adenocarcinoma of distal oesophagus and gastric cardia, probably arising from areas of intestinal metaplasia, has been increasing rapidly. AIMS: To define prevalence of intestinal metaplasia of distal oesophagus, oesophagogastric junction and gastric cardia and to evaluate potential associated factors, by means of a prospective multicentre study including University and teaching hospitals, and primary and tertiary care centres. PATIENTS: Each of 24 institutions involved in study enrolled 10 consecutive patients undergoing first-time routine endoscopy for dyspeptic symptoms. METHODS: Patients answered symptom questionnaires and underwent gastroscopy Three biopsies were taken from distal oesophagus, oesophago-gastric junction and gastric cardia, and were stained with haematoxylin and eosin. Specimens were also evaluated for Helicobacter pylori infection. RESULTS: A total of 240 patients (124 male, 116 female; median age 56 years, range 20-90) were enrolled in study. Intestinal metaplasia affected distal oesophagus in 5, oesophago-gastric junction in 19 and gastric cardia in 10 patients. Low-grade dysplasia was found at distal oesophagus and/or oesophago-gastric junction of 3/24 patients with intestinal metaplasia vs 2/216 without intestinal metaplasia (p<0.05). A significant association was found between symptoms and presence of intestinal metaplasia, regardless of location, and between Helicobacter pylori infection and intestinal metaplasia at oesophago-gastric junction. CONCLUSIONS: Intestinal metaplasia of distal oesophagus, oesophagogastric-junction and gastric cardia is found in a significant proportion of symptomatic patients undergoing gastroscopy and is associated with dysplasia in many cases. Although prevalence of dysplasia seems to decrease when specialized columnar epithelium is found in short segment, or even focally in oesophago-gastric junction, these small foci of intestinal metaplastic cells may represent source of most adenocarcinomas of cardia.

Urinary excretion of ethylenethiourea in five volunteers on a controlled diet (multicentric study).

Urinary excretion of ethylenethiourea (ETU) was monitored for 8 days in a group of five male non-smoker volunteers on a diet, the items of which were assayed for ETU and carbon sulphide. Urinary excretion of ETU reflected the consumption of wine, fruit and vegetables. Urinary ETU concentrations ranged from 0.6 to 6.7 micrograms/g creatinine. ETU concentrations in the food eaten by the volunteers were generally below the detection limit whereas in wine 8.8 micrograms/l ETU was detected. Evolution of carbon sulphide by food samples ranged from 0.03 to 0.17 mg/kg. Mean (+/- S.D.) daily intake of ETU in wine was 3.5 +/- 0.2% of the acceptable daily intake (ADI): 0.070 +/- 0.004 micrograms/kg body wt. During the 8 days of the study, an average of 48.3% of the ETU ingested in wine was excreted unmodified by the kidneys. Twenty-four hour urinary excretion of ETU was significantly correlated with daily intake of ETU (r = 0.768) and CS2 evolved by the daily food items (r = 0.414).

Soil quality and vulnerability in a Mediterranean natural ecosystem of Central Italy.

Wet and dry atmospheric depositions and soil chemical and microbiological properties were determined in a Mediterranean natural ecosystem of Central Italy near Rome (Castelporziano Estate). The monitoring of depositions permitted us to quantify the exceedances of S and N compounds (expressed as eqH(+)ha(-1)year(-1)) over the critical loads of acidity. Critical loads, i.e. the quantity of a substance which a part of the environment can tolerate without adverse effects occurring, were determined adopting the level 0 methodology following the UN/ECE Convention on Long-range Transboundary Air Pollution. Deposition data were available for the period 1992-1997, and acidity exceedances were referred to the main vegetation types present in the area. Results showed that most part of the Estate has a medium degree of vulnerability to acidification, and the corresponding risk of acidification deriving from the exceedances of atmospheric deposition was rather low. The study of soil chemical and microbiological properties included mainly total soil organic carbon (SOC), microbial biomass-C, biomass-C/SOC, soil respiration, and metabolic quotient (qCO2). Soil organic C metabolism has been discussed on the basis of the results from eight sampling sites.

[Latex allergy]. / Allergia al lattice.

The incidence of latex allergy has increased in the last decade in particular for medical and health care staff. The "L. Sacco" Hospital in Milan has developed an organisational model for dealing with clinical problems of patients allergic to latex who need to be admitted in hospital. Guidelines have been drawn up to handle the problem of latex allergy in hospital. An Interdisciplinary Working Group has systematically re-examined the epidemiological, etiopathogenetic, clinical diagnostic and therapeutic aspects of this important medical problem. This last topic has been particularly developed to facilitate doctors with emergency drugs. Nevertheless the most efficient method against the sensitisation is the elimination and reduction in hospital of the allergens causing the disease.

[Obstetrical analgesia in a woman allergic to ethylene oxide]. / Analgésie obstétricale chez une femme allergique à l'oxyde d'éthylène.

A case is reported of a 28 year old woman, with untreated mitral valve disease and a professional allergy to ethylene oxide and phthalic anhydride, who presented with acute hydramnios during the 35th week of pregnancy. Emergency caesarean section having been decided on, a urinary catheter--sterilized by gamma rays and not ethylene oxide--was inserted; the gloves used had however been sterilized in ethylene oxide gas, and the patient rapidly presented with anaphylactic shock. The needles and intravenous infusion equipment used were all either sterilized in gamma rays or rinsed in large quantities of liquid. It was decided to abandon the caesarean section and attempt a vaginal delivery using morphine spinal analgesia; epidural analgesia was absolutely contraindicated because the catheters were sterilized in ethylene oxide and the patient's haemodynamic state was too precarious. Caudal anaesthesia with 0.25% bupivacaine was used to complete the spinal analgesia and speed up cervical dilation. The child was delivered with forceps and the diagnosis of oesophageal atresia was confirmed.

Long-term atmospheric deposition wet-dry fluxes. Critical loads exceedences in an urban area.

The present work provides an overview of the most relevant results concerning a five years monitoring programme of wet and dry deposition (1995-1999) in the city of Bologna. The aim of this research is to get an overall picture of atmospheric pollutants deposition inventory in an urban territory and to allow an assessment of the vulnerability of the area by comparing actual fluxes of acidity and nutrient nitrogen with the respective "critical loads" associated to the territory, in the framework of the UNECE LRTAP (Long Range Transboundary Air Pollution Convention). This comparison, for the Bologna monitoring station, shows "exceedance classes" from 4 to 6 for acidity and from 1 to 5 for nutrient nitrogen, reflecting an urban-industrial context, though a trend in reducing occurs from 1995 to 1999. A water layer surface sampler (DAS-MTX sampler) was employed for "surrogate" dry deposition collection. The contribute of dry fraction to the total deposition fluxes appears to prevail on wet fraction for many pollutants (up to more than 90% for total calcium and alkalinity). A comparison with long term monitoring results from some stations in Italian territory, shows that the differences among chemical species deposition fluxes may be ascribed both to the long distance aerial transport of pollutants and to site characteristics.

Measurement of conjugated and unconjugated bilirubin in bile. II. A new thin-layer chromatographic method.

A new thin-layer chromatographic (TLC) method is described for measurement of conjugated (CB) and unconjugated (UCB) bilirubin in bile. Bile is streaked on a silica-gel plate and developed with chloroform. Bilirubin in the mobile UCB band and stationary CB band is quantitated by diazotization from the scraped gel with p-iodoaniline reagent. Both CB and UCB in bile yielded identical azopigment absorbance. There was no contamination of the UBC band with either CB or oxidative derivatives of bilirubin, and over 98 per cent added 14C-UBC migrated with the mobile band. Recoveries from TLC averaged 98.2 +/- 4.3 per cent of the applied pigment, duplicated agreed within 10 per cent, and the method accurately detected the enzymatic and alkaline hydrolysis of CB to UCB. Concentrations of UCB in nine samples of normal human gallbladder bile were found to be less than 1.9 mg./dl. and never exceeded 1.2 per cent of the total bilirubin.

[Hand hygiene in intensive care]. / "Mani pulite" in terapia intensiva.

Hand hygiene represents the main way to prevent and/or at least reduce nosocomial infection incidence. In this paper we discuss this "hot topic" through both the analysis of CDC guide lines and the data resulting from a questionnaire survey sent to health care workers, eventually corroborated by their direct observation. From literature data and our survey result analyses, we are more than convinced that the winning strategies for a slow but progressive improvement of hand washing practice and compliance are (i). using a product able to decontaminate hands very quickly and without needing water; (ii). the health care worker awareness of hand hygiene and compliance feed-back importance. From our questionnaire survey as well as from our direct observation, we found a very low (5.6%) compliance of our hospital health care workers to CDC guidelines for hand washing. This may be justified above all by ward logistical and structural problems, as only 55% of sinks are located inside patient rooms, but also because there is a lacking of knowledge of new CDC suggested practices and decontaminating products. Health care worker specific training and the choice of an alcoholic antiseptic disinfectant, allowed us to significantly increase their compliance to proper practices in hand washing and hygiene, showing their interest in such an important and delicate matter.