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J Bene

Publications and source records attributed to J Bene.

At least 19 recordsLinked to original sources
PubMed2006

Increased prevalence of glycoprotein IIb/IIIa Leu33Pro polymorphism in term infants with grade I intracranial haemorrhage.

The prevalence rates of the platelet glycoprotein IIb/IIIa Leu33Pro allele (PLA2), and factor V G1691A Leiden mutation were determined in 109 appropriate for gestational age neonates with grade I intraventricular haemorrhage (IVH) and in 118 IVH-free control infants. The PLA2 allele frequency was 16.4 % in the group of full-term infants with grade I IVH, while it was 9.5 % in the relevant controls (p < 0.005); there was no difference in the PLA allele frequencies on comparing the IVH affected (8.34 %) and unaffected (9.2 %) premature infants. By contrast, the factor V Leiden allele frequency was increased only in the subgroup of premature infants with grade I IVH as compared with the appropriate premature controls (9.25 % vs. 3.34 %, respectively, p < 0.005). These data suggest that besides the factor V Leiden mutation, the PLA2 allele, which has already been suggested to have a role in neonatal alloimmune thrombocytopenia and certain subtypes of adult stroke, can have significance in the development of the events of IVH.

Case-Control Studies↗
PubMed2005

Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK).

Full-length cDNAs of placental protein 20 (PP20) were cloned by screening a human placental cDNA library, which encode a 243 amino acid protein, identical to human thiamin pyrophosphokinase (hTPK) as confirmed by protein sequence analysis. Genomic alignment showed that the PP20/hTPK gene contains 9 exons. It is abundantly expressed in placenta, as numerous EST clones were identified. As thiamine metabolism deficiencies have been seen in placental infarcts previously, these indicate that PP20/hTPK may have a role in placental diseases. Analysis of the 1kb promoter region showed numerous putative transcription factor binding sites, which might be responsible for the ubiquitous PP20/hTPK expression. This may also be in accordance with the presence of the protein in tissues responsible for the regulation of the exquisite balance between cell division, differentiation and survival. TPK activity of the purified and recombinant protein was proved by mass spectrometry with electrospray ionization. By Western blot, PP20/hTPK was found in all human normal and tumorous adult and fetal tissues in nearly equal amounts, but not in sera. By immunohistochemical and immunofluorescent confocal imaging methods, diffuse labelling in the cytoplasm of the syncytiotrophoblasts and weak staining of the trophoblasts were observed, and the amount of PP20/hTPK decreased from the first trimester to the end of gestation. A 3D model of PP20/hTPK was computed (PDB No.: 1OLY) by homology modelling. A high degree of structural homology showed that the thiamin binding site was highly similar to that of the mouse enzyme, but highly different from the bacterial ones. Comparison of the catalytic centre sequences revealed differences, raising the possibility of designing new drugs which specifically inhibit bacterial and fungal enzymes without affecting PP20/hTPK and offering the possibility for safe antimicrobial therapy during pregnancy.

Adult↗
PubMed2005

Endothelial nitric oxide synthase gene interactions and the risk of ischaemic stroke.

OBJECTIVE: Endothelial nitric oxide synthase (eNOS), which produces NO, plays an important role in the endothelial function under a wide range of physiological conditions. eNOS exon 7 polymorphism (Glu298Asp, G894T) has been considered to influence the risk of coronary artery disease. Alone, however, it has not been shown to be a genetic risk factor for ischaemic stroke. With the assumption of additive interactions, we examined whether the eNOS G894T or eNOS 894TT genotypes in combination with the methylenetetrahydrofolate reductase 677TT (MTHFR 677TT) or angiotensin-converting enzyme (ACE) D/D genotype could contribute to acute ischaemic stroke. MATERIAL AND METHODS: The data on 407 consecutive patients with acute ischaemic stroke who had never suffered a previous stroke event were analysed. As a control group, 295 stroke and neuroimaging alteration-free Caucasian subjects were examined. With the use of the PCR technique, the eNOS G894T, eNOS 894TT, MTHFR 677TT and ACE D/D mutations, as unfavourable common genotypes were determined in the participants. Logistic regression models were used to evaluate the roles of the genotypes and their combinations in the development of ischaemic stroke. RESULTS: The MTHFR C677TT genotype combined with the eNOS G894T or eNOS 894TT genotypes occurred significantly more frequently in the subjects with ischaemic stroke (7.1%; P < 0.025) than in the control group (3.1%). The co-occurrence of the ACE D/D genotype and eNOS G894T or eNOS 894TT was calculated to be more frequent in the ischaemic stroke group (20.9%, P < 0.0001) than in the control group (5.4%). CONCLUSION: The eNOS G894T or eNOS 894TT genotypes in combination with the MTHFR 677TT or ACE D/D genotype increases the risk of ischaemic stroke.

Aged↗
PubMed2004

Increased prevalence of factor V Leiden mutation in premature but not in full-term infants with grade I intracranial haemorrhage.

OBJECTIVES: In the current prospective study our aim was to analyse the distribution of the factor V Leiden (G1691A) mutation in preterm and full-term neonates with grade I intraventricular haemorrhage and in control neonates. STUDY METHOD: A group of 125 individually selected neonates with grade I intraventricular haemorrhage and 128 controls were investigated. RESULTS: The allele frequency was 7.2% in the total population of affected infants while it was 3.9% in the controls (p < 0.05); the latter corresponds to an average European allele frequency in healthy populations. When the infants were grouped as premature (<2,500 g and < or =36 weeks of gestational age) and appropriate for gestational age full-term infants the statistical analysis revealed an increased prevalence of the mutation in the premature group (10% allele frequency vs. 4.8% in the controls, p < 0.05), and a normal prevalence in the mature group (4.6 vs. 3.1%, respectively); therefore, the overall increase was due to the increase of incidence rate in preterm neonates. CONCLUSIONS: These data confirm our previous results and suggest that as the preterm and term infants differ from each other in haemorrhage susceptibility in many clinical particulars, carrying of the mutation has probably also a different impact in premature and in full-term infants with respect to the intraventricular haemorrhage.

Alleles↗
PubMed2004

Specific APO E genotypes in combination with the ACE D/D or MTHFR 677TT mutation yield an independent genetic risk of leukoaraiosis.

OBJECTIVE: Ischaemic demyelination of the white matter of the brain is a frequent clinical entity. In the neuroimaging terms, it is referred to as leukoaraiosis. We earlier found that the co-occurrence of the homozygous methylenetetrahydrofolate reductase (MTHFR) 677TT and angiotensin-converting enzyme D/D (ACE D/D) genotypes yielded a highly significant moderate risk of leukoaraiosis. On the assumption of further genetic interactions, we have now investigated whether the different apolipoprotein E (APO E) genotypes, in pairwise combinations with the MTHFR 677TT or ACE D/D mutation, could lead to an increased risk of leukoaraiosis. MATERIAL AND METHODS: We analysed the occurrence of the APO E genotypes in pairwise combinations with the MTHFR 677TT or ACE D/D mutation in 315 consecutive Caucasian patients with leukoaraiosis. A total of 646 neuroimaging-free subjects acted as a control group. RESULTS: The APO E 2/2 and 2/3 or APO E 4/4 and 4/3 genotypes in combination with the MTHFR 677TT or ACE D/D mutation exhibited independent genetic risks of leukoaraiosis. CONCLUSION: The interactions of certain unfavourable genetic mutations can contribute to the evolution of leukoaraiosis.

Adult↗
PubMed2003

Sequence heterogeneity among human picobirnaviruses detected in a gastroenteritis outbreak.

Human picobirnaviruses characterised in this study were serendipitously detected in a non-bacterial gastroenteritis outbreak when specimens were examined for the presence of human rotaviruses using polyacrylamide gel electrophoresis. Of ten stool samples sent for virological examination, two, three, and one specimens were positive for human caliciviruses, picobirnaviruses, and both viruses, respectively. Partial sequences of the RNA-dependent RNA polymerase gene were determined for three picobirnavirus-positive samples. The sequence identity among these three strains was 60% to 65% for the nucleic acid and 64% to 70% for the deduced amino acid sequences. Phylogenetic analysis revealed that each of the three strains clustered with strains identified in geographically separate areas. In contrast, human calicivirus strains co-incidentally identified, showed complete nucleotide sequence identity. These findings demonstrate a lack of common exposure to or point of source for picobirnavirus infection, suggesting that the outbreak was caused by human caliciviruses. Further studies are needed to determine the etiologic role and to establish the taxonomic basis of picobirnaviruses.

Adult↗
PubMed2003

Evaluation of the modifying effects of unfavourable genotypes on classical clinical risk factors for ischaemic stroke.

OBJECTIVES: Ischaemic stroke is a frequent heterogeneous multifactorial disease that is affected by a number of genetic mutations and environmental factors. We hypothesised the clinical importance of the interactions between common, unfavourable genetic mutations and clinical risk factors in the development of ischaemic stroke. METHODS: The Factor V Leiden G1691A (Leiden V), the prothrombin G20210A, the methylenetetrahydrofolate reductase C677T (MTHFR C677T) mutations, the angiotensin converting enzyme I/D (ACE I/D), and apolipoprotein allele e4 (APO e4) genotypes were examined by the polymerase chain reaction (PCR) technique in 867 ischaemic stroke patients and 743 healthy controls. Logistic regression models were used to estimate the roles of the co-occurrences of the clinical risk factors and common genetic mutations in ischaemic stroke. RESULTS: The Leiden V mutation in combination with hypertension or diabetes mellitus increased the risk of ischaemic stroke. We found synergistic effects between the ACE D/D and MTHFR 677TT genotypes and drinking or smoking. The presence of the APO e4 greatly facilitated the unfavourable effects of hypertension, diabetes mellitus, smoking, or drinking on the incidence of ischaemic stroke. CONCLUSION: In certain combinations, pairing of common unfavourable genetic factors, which alone confer only minor or non-significant risk, with clinical risk factors can greatly increase the susceptibility to ischaemic stroke.

Aged↗
PubMed1999

The attitudes of patients to integrated medical care.

AIM: To establish the attitude of inpatients to integrated medical care. SETTING: A district general hospital which had recently adopted the model of integrated medical care. METHODS: 205 patients of all ages were interviewed and asked about their general views and their personal experience of integrated medical care and their preference had they been given a choice. Those patients who had previously been admitted before integration were asked if they felt the quality of care had changed. RESULTS: Integrated medical wards were preferred by most patients and this preference was greater in older patients. However, 30% identified patients on their wards who they felt should be segregated on account of confusion, frailty or youthfulness. Of the 69 who had been admitted before integration, 88% commented that the quality of care was either the same or better. CONCLUSION: Integrated medical care was the preferred model of care, especially by elderly patients. The special needs of some patients were, however, recognized. Perhaps the ideal model is a needs-related policy within a fully integrated system.

Adolescent↗
PubMed1998

Rectus sheath haematoma in elderly patients: a diagnostic challenge.

CASE REPORTS: We report three cases of rectus sheath haematoma in elderly women. This condition is commonly misdiagnosed at any age but is an even more elusive diagnosis in elderly patients. CONCLUSION: It is important to consider rectus sheath haematoma in older patients with an abdominal or pelvic mass or spontaneous abdominal ecchymoses.

Age Factors↗
PubMed1992

Effects of contralateral white noise on click-evoked emissions in normal and sensorineural ears: towards an exploration of the medial olivocochlear system.

The association between contralateral stimulation and evoked otoacoustic emissions (EOAEs) allows study of sound-evoked olivocochlear feedback and then of the medial olivocochlear system. A method allowing quantification of sound-evoked olivocochlear feedback is proposed. The feedback is present in almost all normal-hearing subjects, but with great interindividual variability. In sensorineural hearing loss, the feedback is present in 20 out of 21 subjects. One paradoxical clinical case is described with a unilateral increase of EOAE intensity during contralateral stimulation.

Acoustic Stimulation↗