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Biomedical subjects

F Parente

Publications and source records attributed to F Parente.

At least 55 records · Page 3Linked to original sources
PubMed1998

Cerebral Whipple's disease: clinical and cerebrospinal fluid findings.

The case of a patient who had a relapse of cerebral Whipple's disease (WD) one year after discontinuation of a two-years' antibiotic treatment is reported. Neither the clinical course nor the results of magnetic resonance imaging (MRI) and routine examination of the cerebrospinal fluid (CSF) allowed the caring physician to predict the relapse. Retrospective analysis of serial specimens of CSF showed that slight CSF leucocytosis and intrathecal synthesis of IgA might have suggested persistence of infection. The decision to stop antibiotic therapy in cerebral WD is difficult, but evaluation of cell counts and of intrathecal synthesis of IgA may help in the decision. Some patients may need to take treatment indefinitely.

Encephalitis↗
PubMed1998

Expression and chromosomal localization of the Requiem gene.

Apoptosis in murine myeloid cell lines requires the expression of the Requiem gene, which encodes a putative zinc finger protein. We detected the protein in both cytoplasmic and nuclear subcellular fractions of murine myeloid cells and human K562 leukemia cells, which suggests that the protein might have a function distinct from a transcription factor. This distribution did not alter upon apoptosis induction by IL-3 deprivation. As an approach to investigate its role in development, we determined the spatio-temporal expression pattern in the mouse. Expression was detected in various tissues in earlier gestational age; however, confined to testes, spleen, thymus, and part of the hippocampus in the adult mouse. The expression profile is consistent with a functional role during rapid growth and cell turnover, and in agreement with a regulatory function for hematopoietic cells. The human cDNA clone sequenced showed high homology to its murine counterpart and extended the open reading frame by 20 codons upstream. The gene is located in the proximal region of mouse Chromosome (Chr) 19. In the homologous human region at 11q13, it is located at about 150 kb centromeric from MLK3.

Amino Acid Sequence↗
PubMed1998

Ultrasonographic features of long-standing primary intestinal lymphangiectasia.

This article describes a case of primary intestinal lymphangiectasia associated with protein-losing enteropathy and lower right leg lympoedema in a 20-year-old woman. Echographic findings showed dilation of the intestinal loops, regular and diffuse thickening of the walls, plical hypertrophy and impressive mesenteric oedema. Although diagnosis of the disease is substantially histological, the ultrasonographic characteristics of the lesions are fairly indicative and of certain diagnosis usefulness in patients with protein-losing enteropathy.

Adult↗
PubMed1998

Effects of Helicobacter pylori eradication on gastric function indices in functional dyspepsia. A prospective controlled study.

BACKGROUND: To date, it is unclear whether Helicobacter pylori infection is associated with disturbances of gastric emptying or acid secretion in patients with functional dyspepsia (FD). Our aim was to investigate whether, in the long run, cure of H. pylori infection significantly influences gastric emptying of solids, acid secretion, and gastrin and pepsinogen I (PGI) release in patients with FD. METHODS: Thirty-eight consecutive H. pylori-positive patients with FD, whose complaints were scored for severity and frequency on the basis of a validated symptom questionnaire, were initially enrolled in the study. They were randomized to receive an eradicating regimen consisting of omeprazole plus clarithromycin and tinidazole for 1 week or full-dose ranitidine for 3 weeks. In 33 patients (18 H. pylori-cured and 15 with persistent infection) basal and pentagastrin-stimulated acid secretion, fasting and meal-induced gastrin concentrations, fasting serum PGI levels, and gastric emptying of solids were determined before and 6 months after therapy. RESULTS: In the 18 H. pylori-cured patients meal-induced gastrin and fasting PGI levels were significantly reduced after 6 months as compared with pretreatment values (peak serum gastrin, 76.0 +/- 23.4 versus 111.9+/-37.4 pg/ml; PGI, 57.1+/-23.4 versus 72.9+/-29.1 ng/ml), whereas they remained virtually unchanged in the 15 patients with persistent infection. In contrast, both basal and stimulated acid secretion and gastric emptying time of solids remained unmodified over time in both groups of patients. CONCLUSIONS: We confirm that also in patients with functional dyspepsia H. pylori eradication in the long run significantly reduces gastrin and PGI release as a result of improvement in the underlying antral gastritis, but this is not accompanied by modifications of gastric emptying of solids or acid secretion.

Adult↗
PubMed1998

Treatment of cytomegalovirus esophagitis in patients with acquired immune deficiency syndrome: a randomized controlled study of foscarnet versus ganciclovir. The Italian Cytomegalovirus Study Group.

OBJECTIVE: Although several uncontrolled studies have shown that the response rate to ganciclovir and foscarnet for all forms of cytomegalovirus (CMV) infection in immunocompromised patients is almost similar, to date, no controlled clinical trial has been specifically designed to compare these two agents in the treatment of CMV esophagitis. The aim of this study was, therefore, to compare the efficacy and safety of these two drugs in the induction therapy of CMV esophagitis in patients with acquired immunodeficiency syndrome (AIDS). METHODS: Thirty-nine of 211 (18%) consecutive AIDS patients undergoing endoscopy for esophageal symptoms had macroscopic esophagitis that proved to be sustained by CMV based on the documentation of typical intranuclear inclusions at histology; 23 were considered eligible for this study and were randomized to receive foscarnet 90 mg/kg b.i.d. or ganciclovir 5 mg/kg b.i.d. for 21 days. Twelve patients received foscarnet, whereas 11 were treated with ganciclovir. Clinical and laboratory evaluation was performed weekly, and endoscopy was repeated at the end of therapy. The two treatment groups were well balanced as to the following characteristics at entry: age, sex, absolute number of CD4 cells, duration of AIDS, Karnofsky score, frequency of concomitant Candida esophagitis (grade I or II), and severity of esophageal symptoms. RESULTS: Marked endoscopic improvement (complete disappearance of macroscopic lesions or significant reduction of the endoscopic score) was observed in eight of 11 (73%) of foscarnet and seven of 10 (70%) of ganciclovir-treated patients, and inclusion bodies disappeared from follow-up biopsies in 55% and 50% of patients, respectively. The symptomatic response was also similar for both treatments: 82% of patients who received foscarnet and 80% of those treated with ganciclovir had a complete or at least a good clinical response. Frequency of adverse events was comparable with both drugs: only one patient in each group suspended treatment because of severe side effects. CONCLUSIONS: Foscarnet and ganciclovir appear to be similarly effective and safe in the induction therapy of AIDS-related CMV esophagitis. Consequently, the choice of the anti-CMV agent should be tailored to the individual patient according to the different toxicity profiles of the two drugs.

AIDS-Related Opportunistic Infections↗
PubMed1998

Influence of bacterial CagA status on gastritis, gastric function indices, and pattern of symptoms in H. pylori-positive dyspeptic patients.

OBJECTIVE: To date, little is known about a possible relationship between H. pylori-related disturbances of gastric function and the bacterial virulence. The aim of this study was to assess whether certain gastric function indices as well as the pattern of symptoms in nonulcer dyspepsia (NUD) are related to CagA status. METHODS: A total of 56 consecutive patients with NUD (38 H. pylori-positive and 18 H. pylori-negative) were studied. Dyspeptic symptoms were categorized according to the predominant complaints and scored for severity and frequency. In all subjects, basal and pentagastrin-stimulated acid secretion, fasting and meal-induced gastrin release, fasting serum pepsinogen I (PG I) levels, and gastric emptying of solids were determined. CagA status was determined by assaying serum CagA IgG antibodies by western blotting. RESULTS: Eighteen of 38 (47%) H. pylori-positive dyspeptics were CagA seropositive. Type and severity of dyspeptic symptoms did not significantly differ between CagA-positive and CagA-negative dyspeptics nor between H. pylori-positive and negative patients. Among the gastric function indices studied, only meal-stimulated gastrin was significantly influenced by CagA status (peak gastrin 129.9 [44.1] vs 99.1 [48.6] pg/ml in CagA-positive and negative NUD, respectively), but this was not accompanied by any significant modification of basal or stimulated acid secretion or gastric emptying of solids. The activities of both antral and corpus gastritis in NUD harboring CagA-positive strains were significantly higher than those of CagA-negative NUD. Accordingly, serum PG I levels were significantly higher in CagA-positive than CagA-negative or H. pylori-negative dyspeptics. CONCLUSIONS: These findings support a role for CagA status in influencing the activity and perhaps the distribution of gastritis in NUD, as well as the degree of gastrin response to a meal; however, this is not accompanied by disturbances of acid secretion or gastric emptying or by differences in the type and severity of symptoms.

Adult↗
PubMed1998

Subjective quality of life in out-patients with schizophrenia: clinical and utilization correlates.

The relationship between subjective quality of life (QOL), clinical measures, and service utilization was measured in out-patients with schizophrenia. A total of 72 subjects completed the Quality of Life Interview and were also assessed by means of the Positive and Negative Syndrome Scale, a battery of neuropsychological tests, and two measures of social functioning. Use of psychiatric services over a 2-year period was ascertained from comprehensive records. Global subjective QOL was lower than patients' satisfaction with specific life domains. There were few significant correlations between satisfaction with, and objective measures of, specific life areas. In a multiple regression, patients' global subjective QOL was inversely related to their scores on the PANSS depression factor, and to the number of psychiatrist out-patient visits.

Adult↗
PubMed1998

Factors affecting splanchnic haemodynamics in Crohn's disease: a prospective controlled study using Doppler ultrasound.

BACKGROUND: Current knowledge on splanchnic haemodynamics in Crohn's disease is limited. AIMS: To investigate which features of Crohn's disease affect splanchnic haemodynamics, and to establish whether portal vein (PV) and superior mesenteric artery (SMA) blood supply reflects clinical or biochemical activity of Crohn's disease. METHODS: Seventy nine patients with Crohn's disease and 40 controls were evaluated by Doppler ultrasound (US). The mean velocity of PV and SMA flow, the volume of blood flow of the PV and SMA, and the resistance index of SMA were studied. A series of clinical, biochemical, and US variables including Crohn's disease activity index, serum C reactive protein concentrations, disease duration and its anatomical location, smoking habits, abdominal complications, and current medical therapy, as well as the maximum bowel wall thickness as measured by US, were determined. The relation between PV and SMA blood flow and these variables was assessed by univariate and multivariate analysis. RESULTS: Patients with Crohn's disease had significantly higher PV and SMA flow and a lower SMA resistance index than controls. Stepwise multiple regression analysis identified bowel wall thickness and location of the disease as the main predictive variables of both PV and SMA blood flow variation, accounting for 36% and 45% of their variability, respectively. No relation was found between splanchnic haemodynamics and disease activity. CONCLUSION: A hyperdynamic mesenteric circulation does exist in Crohn's disease; however splanchnic blood flow does not reflect the clinical or biochemical activity of the disease, but seems to be linked more to other Crohn's disease characteristics, such as maximum bowel thickness and anatomical location.

Adult↗
PubMed1998

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disease characterized by neoplasia of the parathyroid glands, the endocrine pancreas, and the anterior pituitary gland. In addition, families with isolated endocrine neoplasia, notably familial isolated hyperparathyroidism (FIHP) and familial acromegaly, have also been reported. However, whether these families constitute MEN 1 variants or separate entities remains speculative as the genetic bases for these diseases are unclear. The gene for MEN 1 has recently been cloned and characterized. Using single strand conformation analysis (SSCA) and sequencing, we performed mutation analysis in: a) a total of 55 MEN 1 families from 7 countries, b) 13 isolated MEN 1 cases without family history of the disease, c) 8 acromegaly families, and d) 4 FIHP families. Mutations were identified in 27 MEN 1 families and 9 isolated cases. The 22 different mutations spread across most of the 9 translated exons and included frameshift (11), nonsense (6), splice (2), missense mutations (2), and in-frame deletions (1). Among the 19 Finnish MEN 1 probands, a 1466del12 mutation was identified in 6 families with identical 11q13 haplotypes and in 2 isolated cases indicating a common founder. One frameshift mutation caused by 359del4 (GTCT) was found in 1 isolated case and 4 kindreds of different origin and haplotypes; this mutation therefore represents a common "warm" spot in the MEN1 gene. By analyzing the DNA of the parents of an isolated case one mutation was confirmed to be de novo. No mutation was found in any of the acromegaly and small FIHP families, suggesting that genetic defects other than the MEN1 gene might be involved and that additional such families need to be analyzed.

Acromegaly↗
PubMed1998

Helicobacter pylori infection and ischaemic heart disease: is there a link?

Several studies have recently reported an association between ischaemic heart disease and Helicobacter pylori infection. We critically review the epidemiological and clinical evidence on this association and examine the possible pathogenetic mechanisms by which Helicobacter pylori may increase the risk of developing ischaemic heart disease. The present evidence supporting the association between these two conditions is weak and based mainly on cross-sectional surveys in which it is difficult or impossible to separate cause and effect; moreover, the sequence of gastric infection and heart disease is uncertain. Further prospective or interventional studies are needed to clarify this issue.

Female↗
PubMed1997

Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by parathyroid, pancreatic, and anterior pituitary tumors. The MEN1 locus has been previously localized to chromosome 11q13, and a 2-Mb gene-rich region flanked by D11S1883 and D11S449 has been defined. We have pursued studies to facilitate identification of the MEN1 gene by narrowing this critical region to a 900-kb interval between the VRF and D11S1783 loci through melotic mapping. This was achieved by investigating 17 cosmids for microsatellite polymorphisms, which defined two novel polymorphisms at the VRF and A0138 loci, and utilizing these to characterize recombinants in MEN1 families. In addition, we have established a 1200-kb sequence-ready contig consisting of 26 cosmids, eight BACs, and eight PACs that encompass this region. The precise locations for 19 genes and three ESTs within this contig have been determined, and three gene clusters consisting of a centromeric group (VRF, FKBP2, PNG, and PLCB3), a middle group (PYGM, ZFM1, SCG1, SCG2 (which proved to be the MEN1 gene), and PPP2R5B), and a telomeric group (H4B, ANG3, ANG2, ANG1, FON, FAU, NOF, NON, and D11S2196E) were observed. These results represent a valuable transcriptional map of chromosome 11q13 that will help in the search for disease genes in this region.

Chromosome Mapping↗
PubMed1997

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary that represents one of the familial cancer syndromes. The MEN1 locus has been previously localised to chromosome 11q13, and a <300 kb gene-rich region flanked centromerically by PYGM and telomerically by D11S1783 defined by combined meiotic and tumour deletion mapping studies. Two candidate genes, ZFM1 and PPP2R5B, from this region have been previously excluded, and in order to identify additional candidate genes we used a BAC to isolate cDNAs from a bovine parathyroid cDNA library by direct selection. One of the novel genes that we identified, SCG2, proved to be identical to the recently published MEN1 gene, which is likely to be a tumour suppressor gene. The SCG2 transcript was 2.9 kb in all tissues with an additional 4.2 kb transcript also being present in the pancreas and thymus. Mutational analysis of SCG2 in 10 unrelated MEN1 families identified one polymorphism and nine different heterozygous mutations (one missense, four non-sense, one insertional and three deletional frameshifts) that segregated with the disease, hence providing an independent confirmation for the identification of the MEN1 gene.

Animals↗
PubMed1997

The association between Helicobacter pylori infection and ischemic heart disease: facts or fancy?

BACKGROUND: Helicobacter pylori infection has been associated recently with an increased risk of developing ischemic heart disease. METHODS: We critically reviewed the literature on the association between Helicobacter and ischemic heart disease. RESULTS: It has been suggested that a persistent low-grade inflammatory response resulting from chronic gastritis caused by H. pylori may increase the concentration of certain coagulation factors, such as fibrinogen, which are predictors of ischemic heart disease. After the appearance of the first studies indicating a moderately strong association, other researchers have investigated the potential association between these two conditions, yielding conflicting results. It must be emphasized that a relationship between fibrinogen or other hemostatic factors and H. pylori infection has been demonstrated only in cross-sectional studies, many of which included ischemic heart disease patients. CONCLUSION: The present evidence supporting the association between H. pylori infection and ischemic heart disease is based on cross-sectional surveys, in which it is difficult to separate cause and effect. The high prevalence in the population of both H. pylori and ischemic heart disease makes it very difficult to establish a causal association. Prospective or interventional studies eventually might help to clarify the question.

Helicobacter Infections↗
PubMed1997

Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

In a 15 year old girl, referred for growth retardation, conventional cytogenetic analysis detected an abnormal 15q+ chromosome with extra material in the proximal region, inherited from her father and grandfather. Using various molecular cytogenetic techniques, including comparative genomic hybridisation, we showed that the extra chromatin resulted from in situ amplification of DNA sequences located between the loci D15Z1 and D15S18. On the basis of the clinical features of our patient and the late replication of the large amplified region, we searched for functional modifications in the adjacent Prader-Willi syndrome region.

Adolescent↗
PubMed1997

Experimental assessment of the detection limit of genomic amplification by comparative genomic hybridization CGH.

Artificial amplicons of known size, constructed by use of YACs featuring human 8p12 and 12q13, were analyzed by comparative genomic hybridization (CGH). A minimum of 15 Mb of overrepresented DNA sequences could be detected. The sensitivity is (1) not dependent on the chromosome site and (2) related to the size of the amplicon, decreasing with decreasing size.

Chromosome Mapping↗
PubMed1997

Lack of insight among outpatients with schizophrenia.

OBJECTIVE: This study investigated the prevalence of lack of insight among outpatients with schizophrenia and the relationship between lack of insight and other variables, including whether patients received professional residential supervision. METHODS: A total of 87 stable outpatients with schizophrenia were drawn from community programs in a public-private mental health system. Subjects' clinical symptoms and insight about their illness were assessed using the Positive and Negative Syndrome Scale, a battery of neuropsychological tests, and the Social Functioning Scale. RESULTS: The illness insight of 43 subjects, or 49.5 percent, was at least moderately impaired. Twenty-one subjects, or 25 percent, had severe insight deficits. In a multiple regression analysis, 40 percent of the variance in lack of insight was predicted by ratings of the severity of delusions, difficulty with abstract thinking, lack of social activities, and absence of anxiety. Patients who received professional residential supervision had more impaired insight than those living independently or with family. CONCLUSIONS: Insight deficits are common among stable outpatients engaged in community-based care. These deficits have implications for patients' use of limited services such as residential supervision.

Activities of Daily Living↗