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Biomedical subjects

A Manca

Publications and source records attributed to A Manca.

At least 37 records · Page 2Linked to original sources
PubMed1999

High prevalence of Helicobacter pylori infection in shepherds.

It has been suggested that Helicobacter pylori infection may, in some instances, be a zoonosis. The aim of this study was to evaluate the prevalence of H. pylori infection in Sardinian shepherds and their families in relation to exposure to sheep and sheep dogs. Sardinian shepherds and a control group of blood donors completed detailed questionnaires regarding demographics, childhood and current economic status, and the presence of symptoms related to the upper gastrointestinal tract. H. pylori status was determined by a sensitive ELISA for anti-H. pylori IgG and by western blot for anti-CagA IgG. A subgroup of shepherds had upper gastrointestinal endoscopy with biopsy to assess the severity of the gastritis. H. pylori infection in Sardinian shepherds approached 100% and was positively related to animal contact (98% of shepherds, 73% of family members without regular direct animal contact compared to 43% of blood donors) (P < 0.001). Importantly, the family members shared the same childhood with the shepherds but choose different careers (e.g., teachers, nurses, business) and did not have regular contact with sheep. In conclusion, the prevalence of H. pylori infection in Sardinian shepherds is among the highest in the world and is associated with direct contact with sheep and sheep dogs. These results suggest that the cycle of H. pylori infection might, in certain circumstances, include phases in the environment, animals (sheep or dogs) and human beings.

Adolescent↗
PubMed1999

Pretreatment antibiotic resistance in Helicobacter pylori infection: results of three randomized controlled studies.

BACKGROUND: Although combinations of antibiotics and antisecretory drugs are useful for treatment of Helicobacter pylori infection, treatment failure is common. The aim of this study was to evaluate the relation between pretreatment antibiotic resistance and outcome by using six different treatment regimens for H. pylori infection. PATIENTS AND METHODS: Three hundred sixty-nine consecutive H. pylori-infected patients with dyspeptic symptoms were enrolled in three consecutive randomized, controlled, single-center clinical trials: trial A, 128 patients; trial B, 125 patients; trial C, 116 patients. Treatments consisted of (A) a 15-day course of dual therapy (omeprazole, 20 mg bid, and amoxicillin, 1 gm bid, or clarithromycin, 500 mg tid) (OA vs OC); (B) a 7-day triple therapy of omeprazole, 20 mg bid, plus metronidazole, 500 mg bid, and amoxicillin, 1,000 mg bid, or clarithromycin, 500 mg tid (OMA vs OMC); or (C) omeprazole, 20 mg bid, plus metronidazole, 500 mg bid, plus tetracycline, 500 mg qid, or doxycycline, 100 mg tid (OMT vs OMD). Diagnostic endoscopy was made in all patients before and 5 to 6 weeks after therapy. Six biopsies were taken from each patient for histology, rapid urease test, and H. pylori culture; antibiotic susceptibility testing was performed using the E-test method. RESULTS: Overall cure rates were poor for both dual therapies OA and OC (38% and 37%, respectively) and for triple therapies OMA, OMC, and OMD (57%, 55%, and 58%, respectively). The OMT combination was successful in 91% (95% confidence interval [CI], 80.4%-97%). Metronidazole resistance was present in 29.7% (95% CI, 24%-35%), amoxicillin resistance was present in 26% (95% CI, 21%-32%), clarithromycin resistance was present in 23.1% (95% CI, 18%-29%), tetracycline resistance was present in 14% (95% CI, 10%-20%), and doxycycline resistance was present in 33.3% (95% CI, 21%-47%). Antibiotic resistance markedly reduced the cure rates and accounted for most of the poor results with the triple therapies: 89% versus 23%; 77% versus 26%; 100% versus 60%; and 67% versus 23% for OMC, OMA, OMT, and OMD, respectively. OMT appeared to be the best because of the high success rate with metronidazole-resistant H. pylori (71%) and in low-level tetracycline resistance. CONCLUSIONS: Pretreatment antibiotic-resistant H. pylori can, in part, explain the low cure rate of the infection and the variability in outcome in reported trials.

Amoxicillin↗
PubMed1998

A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up.

We report a 2-year prospective neuropsychological study of five asymptomatic subjects with magnetic resonance imaging (MRI) abnormalities from an Italian kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). These subjects completed tests for attention capacities, processing speed, abstract thinking, short-term memory, learning and constructional praxis. Seven normal subjects matched for age and education, belonging to the same pedigree and not having MRI hyperintensities were examined as controls. The results did not show significant differences between asymptomatic subjects and normal controls. Cognitive performance of asymptomatic subjects did not deteriorate during a 2-year follow-up. Our findings suggest that, at this stage of the disease process, the presence of diffuse leukoencephalopathy does not imply subtle cognitive defects.

Adult↗
PubMed1997

Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes.

The distal long arm of chromosome 10 harbors genes of biomedical interest such as MXI1, a putative tumor suppressor gene, and those encoding the adrenergic receptors alpha2A (ADRA2A) and beta1 (ADRB1). As part of a physical and genetic study of this genomic region, we constructed a 1.5-Mb YAC contig mapping to 10q25 that contains MXI1 and ADRA2A as well as a number of STSs. Rare cutting restriction site analysis of overlapping YACs allowed fine mapping of these genes and markers along the contig and revealed the presence of four CpG islands. MXI1 and ADRA2A appear to be about 600 kb apart, whereas ADRB1 is separated from ADRA2A by a distance larger than previously reported.

Basic Helix-Loop-Helix Proteins↗
PubMed1997

The ice-water test in the diagnosis and treatment of the neurogenic bladder.

OBJECTIVE: To determine the usefulness of the ice-water test (IWT) in the diagnosis and treatment of neurological bladder disease. PATIENTS AND METHODS: The IWT was carried out in 148 patients with neuropathic bladder dysfunction resulting from a traumatic lesion, to assist in their diagnosis and treatment, and in 130 patients with neuropathic bladder dysfunction and multiple pathogenic disorders; the results of the IWT were used to classify those patients with hyperactive bladders. RESULTS: The IWT was positive in 95% of patients affected by complete and in 86% of patients with incomplete medullary lesions. The IWT in patients with lower motor neuron medullary lesions was always negative. The test was used diagnostically in all patients with lower and in 43% of those with upper motor neuron lesions. In the latter, it was used in 48% of patients as a rehabilitation method during the medullary-shock phase to accelerate the appearance of the micturition reflex. In 9% of patients it was used to induce micturition during cystography. CONCLUSION: Because it is simple to perform, the IWT is a useful complement to urodynamic examinations in patients with neurological bladder disease and in patients with micturitional disorders that are otherwise difficult to interpret.

Cold Temperature↗
PubMed1997

Rhabdomyoma of the tunica vaginalis of the testis: a histologic, immunohistochemical, and ultrastructural study.

A case of an unusual tumor of skeletal muscle origin is described. The tumor was located in the tunica vaginalis of the testis in a 19-year-old man. Histologic examination showed a proliferation of elongated or round cells, with clearly discernible cross striations, surrounded by abundant mature connective tissue, consistent with genital rhabdomyoma. Immunohistochemical and electron microscopic features supported this diagnosis. Rhabdomyoma must be considered in the differential diagnosis of paratesticular tumors.

Adult↗
PubMed1996

Intercellular adhesion molecule-1 (ICAM-1) immunoreactivity in well-differentiated thyroid papillary carcinomas.

Fifty-nine cases of tumors, 51 taken from the thyroid gland including 17 well-differentiated papillary, 1 medullary and 3 follicular carcinomas, 14 follicular adenomas, 16 nodular goiters and 8 cases selected from other sites; 5 breast carcinomas; 1 melanoma; 1 Merkel cell tumor; and 1 squamous cell carcinoma of the uterine cervix, were investigated for intercellular adhesion molecule-1 (ICAM-1) expression. All cases of well-differentiated papillary thyroid carcinoma showed positivity for ICAM-1, whereas the follicular carcinomas, follicular adenomas, and all but one nodular goiters were negative. It is suggested that the occurrence of ICAM-1 on the thyroid cell surfaces in well-differentiated papillary thyroid carcinomas may contribute to the understanding of their biology and could be of potential significance for diagnostic purposes.

Carcinoma, Papillary↗
PubMed1995

An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Vascular dementia is usually sporadic and associated with definite risk factors. Several cases also occur in a familial fashion, and may affect middle-aged or even younger subjects. Recently, an autosomal dominant inheritance was demonstrated in two unrelated French families, the members of which were affected by stroke-like episodes culminating in progressive dementia. Genetic linkage analysis assigned the disease locus to chromosome 19q12. We report an additional kindred of Italian origin in which at least 16 subjects presented leukoencephalopathic alterations. Recurrent strokes, psychiatric disturbances, dementia, and in 2 members, tetraplegia and pseudobulbar palsy were the hallmarks of this syndrome. Notably, 5 asymptomatic individuals had neuroradiological signs of leukoencephalopathy. Pathological examination of 1 subject revealed a widespread vasculopathy of the perforating arterioles, characterized by deposition of eosinophilic-congophilic material that did not immunostain with antibodies against prion protein, beta-amyloid, cystatin C, transthyretin, or heat-shock protein 70 and was similar to that described in the French families. Based on the maximum lod score, the most likely location for the disease locus was also mapped to chromosome 19q12, and found to coincide with the CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) locus. The present results confirm the existence of a nosologically distinct, autosomal dominant cerebrovascular disease, presenting with recurrent subcortical ischemic strokes independent of vascular risk factors.

Adult↗
PubMed1993

Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad.

To elucidate the function of the FMR1 gene, we applied RNA in situ hybridization to cryosections of mice from different developmental stages. The murine Fmr-1 was found transcribed in a ubiquitous manner with an expression pattern similar to glyceraldehyd phosphate dehydrogenase, Gapdh, which was used as a control gene. A significant difference in the Fmr-1 expression pattern, however, was markedly enhanced expression specifically confined to the testis and the fetal ovary. In the immature and mature testis an elevated level of Fmr-1 expression is found in type A1 spermatogonia. Expression in the testis is observed in fetal life, reaches the highest level in the immature testis, and declines early in adult life. In the mature ovary no specific Fmr-1 expression signal was found but enhanced levels were seen in the fetal ovary. At this developmental stage proliferation of oogonia takes place. It is suggested that FMR1 serves a special function during germ cell proliferation in males and females. These findings are discussed in the light of the current observation that fragile X patients produce only sperm with a premutation sized allele. Two hypotheses are put forward: (1) In males lack of FMR1 function results in a premeiotic defect preventing spermatogonia with a full mutation to reach meiosis. A fragile X mutation can be passed on to offsprings only as a premutation (selection hypothesis). (2) Transition of a premutation allele to full mutation occurs in a postzygotic stage after separation of the germ line and is restricted to soma cells (restriction hypothesis). Expression of FMR1 in proliferating germ cells is in line with both hypothesis.

Aging↗
PubMed1993

Alternative splicing in the fragile X gene FMR1.

The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known. We have determined additional cDNA sequences both at the 5' and 3' end. We have characterized the expressed gene by means of RT-PCR in various tissues and have found that alternative splicing takes place in the FMR1 gene, which does not seem to be tissue specific. When the different alternative splicing events are combined, 12 distinct mRNA products could result from FMR1 expression in each tested tissue. In all these transcripts the open reading frame is maintained until the same stop codon. At the 3' end alternative use of polyadenylation signals is found. The alternative splicing allows functional diversity of the FMR-1 gene. Whether all the possible proteins will be synthesized and whether they will be functionally active has to be determined.

Alternative Splicing↗
PubMed1992

Fragile X syndrome without CCG amplification has an FMR1 deletion.

We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment. The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences. This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1. We also found random X-inactivation in the mother of the patient who was shown to be a carrier of this deletion.

Adult↗
PubMed1992

A strategy for the selection of transcribed sequences in the Xq28 region.

As an essential step towards an exhaustive analysis of the coding potential of large regions of the genome, we have developed a protocol allowing the rapid isolation of transcripts defined by overlapping clone libraries. The method is based on the hybridisation of cDNA inserts, which had been amplified by PCR from cDNA libraries, to biotinylated DNA from cosmids or cosmid pools. Nonspecific hybrids are then removed, the selected cDNAs are eluted and reamplified by PCR. Using a cosmid containing part of the FMR-1 gene as test, we were able to demonstrate an eighty thousand fold enrichment of cDNAs for this gene after two rounds of selection-amplification. The technique was applied to the analysis of transcripts from two cosmid contigs, together encompassing a region of 900 kb in Xq28. These experiments have thus far resulted in the identification of 81 cDNA clones, of which 54 clones were mapped back to the cosmid contigs. Of the 54 clones placed on the contig maps, 12 cDNA clones can be shown to belong to two genes which have been previously reported (L1CAM and QM).

Base Sequence↗
PubMed1992

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

A gene designated "FMR-1" has been isolated at the fragile-X locus. One exon of this gene is carried on a 5.1-kb EcoRI fragment that exhibits length variation in fragile-X patients because of amplification of or insertion into a CGG-repeat sequence. This repeat probably represents the fragile site. The EcoRI fragment also includes an HTF island that is hypermethylated in fragile-X patients showing absence of FMR-1 mRNA. In this paper, we present further evidence that the FMR-1 gene is involved in the clinical manifestation of the fragile-X syndrome and also in the expression of the cellular phenotype. A deletion including the HTF island and exons of the FMR-1 gene was detected in a fragile X-negative mentally retarded male who presented the clinical phenotype of the fragile-X syndrome. The deletion involves less than 250 kb of genomic DNA, including DXS548 and at least five exons of the FMR-1 gene. These data support the hypothesis that loss of function of the FMR-1 gene leads to the clinical phenotype of the fragile-X syndrome. In the fragile-X syndrome, there are pathogenetic mechanisms other than amplification of the CGG repeat that do have the same phenotypic consequences.

Base Sequence↗
PubMed1990

[A therapeutic protocol with cefoperazone in bronchopneumopathy in mucoviscidosis].

Cystic fibrosis, a hereditary chronically evolving disease, is characterized by special predisposition to bronchial infections, especially by Pseudomonas strains. In the present open noncomparative study, the therapeutic efficacy of cefoperazone in respiratory infections by Pseudomonas aeruginosa in 25 children suffering from cystic fibrosis has been evaluated. Results were favorable, since both the specific symptoms of the infection and the general condition of the patients was markedly improved although the eradication of Pseudomonas was not achieved.

Adolescent↗
PubMed1990

Magnetic resonance imaging in the malformative syndromes with mental retardation.

We reported on thirteen children affected with malformative syndromes associated with mental retardation. MRI examination showed in all of them different types of anomalies; agenesis of corpus callosum, ventricular dilatation and cerebral matter alterations were the most frequent findings. The authors give a brief description of the clinical reports and of the anomalies observed with MRI; they conclude that MRI seems to be a valuable tool especially for the study of the alterations of the cerebral matter and their correlation with mental retardation.

Abnormalities, Multiple↗