Prevalence of Campylobacter jejuni, Campylobacter coli and enteric Helicobacter in domestic and free living birds in North-Western Italy.

In order to investigate the prevalence of some thermophilic Campylobacter (C. jejuni and C. coli) and enteric Helicobacter (H. pullorum and H. canadensis) in domestic and wild birds, a total of 278 bird caecal samples were analyzed over a 2 year period in North-Western Italy. Samples were collected from poultry raised in intensive farming at the slaughterhouse (n=102, group A) and in small scale rural farms (n=60, group B) as well as from wild birds (n=116, group C). PCR amplifications were carried out on DNA extracted from caecal samples. Molecular assays targeted the hipO gene for C. jejuni, the asp gene for C. coli and the 16S rRNA gene of H. pullorum/H. canadensis. To differentiate H. pullorum from H. canadensis, PCR products were subjected to an ApaLI digestion assay. Prevalence of thermophilic Campylobacter and enteric Helicobacter was significantly different among groups (p<0.0001). Campylobacter infections were detected in all three bird groups (78.4% group A, 18.3% group B and 38.8% group C, respectively), Helicobacter infections were only detected in poultry, with H. pullorum infecting 68.6% of group A and 21.7% of group B birds. H. canadensis was detected in Guinea fowls (group A) and for the first time in pheasants (group B). Mixed infections by enteric Campylobacter and Helicobacter were shown in 53.9% of group A and in 5.0 % of group B. Our results show that both microorganisms commonly infect poultry, especially intensive farming animals. Only hooded crows among the wild bird group (group C), proved to be highly sensitive to Campylobacter infection.

Wilson's disease-cause of mortality in 164 patients during 1992-2003 observation period.

We studied the cause of death in a consecutive series of 164 patients with Wilson's disease (WD) diagnosed over an 11 year period. A total of 20 [12% (95% CI 10.3-16.0)] died during the observation period. The relative survival rate of all patients in our group was statistically smaller than in Polish population. The main cause of death was the diagnosis in advanced stage of disease, but in six patients presenting with mild signs, we observed the progression of the disease despite treatment. There was no difference in mortality rate in patients treated with d-penicillamine or zinc sulphate as initial therapy. The prognosis for survival in the majority of WD patients is favourable, provided that therapy is introduced early.

Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

The prevalence of the familial defective apolipoprotein B-100 (FDB) Arg3500Gln mutation in 525 unrelated hypercholesterolaemic Polish subjects was evaluated. DNA samples were screened for FDB mutation using SSCP method. Presence of mutation was confirmed using a mismatch MspI PCR strategy. Plasma lipid levels and clinical characteristics of 13 patients identified as carriers of the mutation and of their 23 affected relatives were analysed and compared with non-affected ones. In the affected individuals a variable expression of lipid concentrations and of atherosclerosis symptoms were observed. The prevalence of FDB Arg3500Gln mutation in hypercholesterolaemic Polish subjects (3.7%) seems to be similar to the frequency reported in other Caucasian hypercholesterolaemic populations. The estimated prevalence of the mutation in general Polish population is relatively high being 1/250. The same haplotype at the apoB locus in the carriers of this mutation in Poland as in other populations from Western Europe suggests its common origin. In one hypercholesterolaemic subject a non-hitherto described mutation was identified. It consisted in C-->T transition in apoB codon 3492 leading to threonine to isoleucine substitution in 3492 position of apoB gene (Thr3492Ile).

Late onset of Wilson's disease. Report of a family.

Five cases of Wilson's disease were diagnosed in a family of eight siblings. All of them had Kayser-Fleischer rings. The first neurologic symptoms appeared in one person at age 46 years; in another, psychotic symptoms appeared at age 38 years; and in one patient, jaundice was noted at age 40 years. Two other persons, aged 53 and 43 years, were still without hepatic, neurologic, or psychiatric symptoms of the disease at the time of writing. The family described is very atypical with regard to the age at onset of Wilson's disease.

Effects of long-term treatment in Wilson's disease with D-penicillamine and zinc sulphate.

The results of treatment with D-penicillamine (D-P) or zinc sulphate (Zn) in 67 newly diagnosed cases of Wilson's disease have been compared. All patients (7 with hepatic, 1 with psychiatric and 59 with neurological or preclinical forms) were fully compliant. During 12 years of observation, 34 patients received d-P and 33 Zn as the primary treatment. Fifteen patients (44%) discontinued D-P, in 10 cases owing to side effects. Four (12%) patients discontinued Zn, in 2 cases because of side-effects. One patient who received Zn deteriorated during the first few months after the initiation of therapy. The effectiveness of long-term treatment with D-P and Zn was similar in those patients who were able to continue the initial therapy. Zn was tolerated better than D-P; we suggest, therefore, that it may be recommended as an initial therapy for patients in the preclinical stage of Wilson's disease or with neurological presentation of the disease. More observation is needed for patients with the hepatic and psychiatric forms of the disease.

[Treatment of Wilson's disease with Zincteral]. / Leczenie choroby Wilsona Zincteralem.

In 27 patients with reliably diagnosed Wilson's disease treated previously with penicillamine (Cuprenil, Polfa) for from 10 months to 12 years penicillamine was withdrawn due to various adverse effects and replaced with zinc sulphate (Polish preparation Zincteral) in doses of 200 mg 4 times daily for 12 months. The neurological status was improved in 6 cases. No adverse effects of zinc sulphate were observed.

[Determination of lipoprotein (a) [Lp(a)] in patients with ischemic stroke. Preliminary communication]. / Oznaczanie lipoproteiny (a) [Lp(a)] u pacjentow z niedokrwiennym udarem mozgu. Doniesienie wstepne.

The aim of this work was the determination of apolipoprotein(a) [Lp(a)] in the patients three months after the onset of ischaemic stroke. A group of 56 patients was investigated. Stroke was diagnosed as caused by atherosclerotic changes in main cerebral arteries in 32 patients and in 11 by changes in cervical arteries. In 13 persons a lacunar stroke was recognised. The mean Lp(a) level and the median value were significantly higher in the group of patients after stroke as compared with 45 controls. A more frequent occurrence of Lp(a) level over 30 mg/dl considered as pathological was observed more often in the patients. No correlation was seen between Lp(a) and the resistance of LDL to oxidation nor between Lp(a) and the amount of products of LDL oxidation in vitro.

[In vitro oxidation of low density lipoproteins in patients after ischemic stroke]. / Utlenianie in vitro lipoprotein niskiej gestosci u osób po przebytym niedokrwiennym udarze mózgu.

The aim of this work was the evaluation of low density lipoprotein (LDL) susceptibility to oxidation in the survivors of ischaemic stroke. The investigations were performed in 65 individuals at least three months after the onset of acute symptoms. In 24 patients stroke was caused by alterations in main cerebral arteries, in 19 by considerable narrowing of carotid artery, in 15 by alterations in small cerebral arteries with often accompanying hypertension and/or diabetes (lacunar stroke) and in 7 by embolism of cardiac origin in individuals with cardiac arrhythmia and coronary artery disease. The control group comprised 25 age matched persons without pathological symptoms. Plasma lipids and apolipoprotein B levels were determined as well as two antioxidants: alpha-tocopherol level and superoxide dismutase activity. The evaluation of lipid peroxidation was performed by determining thiobarbituric acid reacting substances (TBARS) and lipid peroxides (LPO) increase after 5 hours oxidation of isolated LDL in vitro in the presence of copper ions. The level of IgG directed against modified LDL was also evaluated. In the patients decreased HDL cholesterol level was observed as well as increased apolipoprotein B. In the group of thrombotic strokes high triglycerides were observed. alpha-tocopherol level was decreased in the group of cerebral strokes. The amounts of oxidation products did not differ between the whole group of patients after stroke and the controls. A significant increase concerned only the group of lacunar strokes. The evaluation of LDL susceptibility to oxidation in patients after stroke by measuring absorption at 234 nm and determining the time period necessary to the onset of intensive LDL oxidation will be the subject of a separate publication.

[Bacterial pneumonia in the acquired immunodeficiency syndrome]. / Neumonía bacteriana en el síndrome de inmunodeficiencia adquirida.

Sixty five patients with AIDS and clinical and/or radiological evidence of pulmonary infection underwent 78 bronchofibroscopies (BF) with protected brushing and bronchoalveolar washing-out. Out of the 78 BF, bacterial infection was diagnosed in 30 cases and associated opportunistic infection in 12 cases. The 18 cases of exclusively bacterial infection accounted for 23% of the total and most of them were due by H. influenzae and pneumococcus. Just in one patient, the thoracic radiography showed a localized infiltration. Given the high incidence of bacterial infections observed, along with the relevance of myxoid infections (opportunistic and pyogenic bacteria) and the low specificity of the thoracic radiography, bronchoalveolar washing-out and protected brushing in the same BF is a recommended practice.

[The alpha-fetoprotein level analysis in open neural tube defects and chromosomal aberrations in the fetus]. / Analiza poziomu alfa-fetoprotein w przypadkach otwartych wad cewy nerwowej i aberracji chromosomowych u plodu.

During the last 12 years 4258 amniocenteses were performed between the 12th and 20th week of gestation (including 323 early amniocenteses carried out before 15th week). In every case, cytogenetical examination was performed and concentration of AFP was determined. In cases with elevated AFP level electrophoresis of AchE izoenzymes was performed. The results of the tests enabled us to calculate laboratory standard values of AFP in the amniotic fluid for 12th to 20th weeks of gestation. In 22 of 44 pregnancies with Down's syndrome the value of AFP concentration was below the 25th percentile of the laboratory normal value. In 5 of 10 pregnancies with Edward's syndrome AFP level exceeded significantly the 75th percentile of the laboratory norm. In two cases it was due to coexisting spina bifida and in one case due to omphalocele. In 28 amniotic fluid samples AFP concentration exceeded normal level and electrophoresis of AchE revealed additional band. In 26 cases increased values of AFP were due to open neural tube defect in the fetus: 13 cases of anencephaly and 13 cases of spina bifida; in the remaining two other cases omphalocele was found.

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutation coexisting with the p.H1069Q. One hundred forty-two patients with clinically, biochemically, and genetically diagnosed WD were studied. The mutational analysis of ATP7B was performed by direct sequencing. A total number of 26 mutations in ATP7B were identified. The p.His1069Gln was the most common mutation (allelic frequency: 72%). Seventy-three patients were homozygous for this mutation. Of compound heterozygotes, 37 had frameshift/nonsense mutation, and 20 had other missense mutation on one of their ATP7B alleles. Twelve patients had two non-p.H1069Q mutations. Patients homozygous for the p.H1069Q mutation had the less severe disturbances of copper metabolism and the latest presentation of first WD symptoms. The most severely disturbed copper metabolism and the earliest age at initial disease manifestation was noticed in non-p.H1069Q patients. In compound heterozygotes, the type of mutation coexisting with the p.H1069Q to a small extent influenced WD phenotype. The phenotype of WD varied considerably among patients with the same genotype. The p.H1069Q mutation is associated with late WD manifestation and with a mild disruption of copper metabolism. In compound heterozygotes, the phenotype of WD to a small extent depends on the type of mutation coexisting with the p.H1069Q. Besides genotype, additional modifying factors seem to determine WD manifestations.

Differences in risk factors for dementia with neurodegenerative traits and for vascular dementia.

In 229 patients with dementia and in 144 control subjects, polymorphisms of apolipoprotein E (ApoE), low-density-lipoprotein (LDL)-receptor-related protein, alpha(2)-macroglobulin, interleukin (IL) 1beta, angiotensin-converting enzyme and of methylene tetrahydrofolate reductase genes were investigated. In plasma, antibodies against Chlamydia pneumoniae and lipids were determined. Dementia was classified as probable Alzheimer's disease (AD), probable dementia of vascular origin (VaD) and mixed dementia (MD). An association of the disease with ApoE and IL-1beta polymorphism and increased levels of LDL cholesterol were observed in AD and in MD but not in VaD.

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical phenotype of the disease is varied. It is proposed that this variation may be a result of differential functional disruption of ATPase7B (ATP7B) resulting from mutations in the gene ATP7B. We aimed to assess the relationship between specific mutational defects in ATP7B and divergence in the phenotypic expression of WD. One hundred and forty-two patients with clinically, biochemically and genetically diagnosed WD were included in the study. The phenotypic expression of WD was compared between patients with different types of mutations in ATP7B, detected by direct sequencing of exons 1-21 of the gene. Twenty-six mutations were identified in ATP7B; eleven of them were mutations predicted to result in the absence of a full-length normal protein [frameshift/nonsense mutations; classified as 'severe' mutations (SMs)], 14 were missense mutations (MMs) and one was a splice site mutation. Patients with one or two SMs on their alleles had lower serum copper and ceruloplasmin and were younger when the first symptoms of the disease appeared, compared with individuals with two MMs. The effect of SMs on the WD phenotype was dose-dependent. It is concluded that mutations within ATP7B are very heterogeneous. Frameshift and nonsense mutations are associated with a severe phenotype of WD.

Low molecular weight copper binding proteins in Wilson disease.

Cultured fibroblasts deriving from Wilson disease patients were compared with the control ones in respect of copper accumulation and low molecular weight copper binding protein (metallothionein) properties. No evidence was obtained that metallothionein abnormality could be a primary cause of copper metabolism disturbances in Wilson disease. The determination of radioactivity, present in serum low molecular weight fraction 24 hours after intravenous injection of 64Cu, has been suggested as an additional tool in Wilson disease diagnosis in doubtful cases.