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Biomedical subjects

A Martini

Publications and source records attributed to A Martini.

At least 163 records · Page 9Linked to original sources

Circulating levels of interleukin-6, interleukin-8, and tumor necrosis factor-alpha in children with autoimmune hepatitis.

Circulating levels of the proinflammatory cytokines interleukin-6 (IL-6), IL-8, and tumor necrosis factor-alpha (TNF-alpha) were measured in 13 children with autoimmune hepatitis (AIH) (seven with type 1 and six with type 2). In untreated children with type 1 AIH, TNF-alpha, IL-6, and IL-8 levels were elevated when compared to those of healthy controls (p < 0.005, p < 0.02, p = 0.06, respectively), whereas in children with type 2 AIH, cytokine levels were normal in all except one sample. A significant decrease in circulating IL-6, IL-8, and TNF-alpha was observed when patients were evaluated during a subsequent remission. We found no significant correlation of cytokine levels with alanine aminotransferase (ALT) activity, total serum gamma-globulins, or prothrombin activity. In patients with cirrhosis, serum IL-8 and IL-6 levels were higher (significantly in the case of IL-8) than those of patients without cirrhosis. In conclusion, activation of the in vivo production of the proinflammatory cytokines IL-6, IL-8, and TNF-alpha appears to be associated with type 1 but not with type 2 AIH.

Adolescent↗

Chronic recurrent multifocal osteomyelitis with unusual features.

We describe two children with chronic recurrent multifocal osteomyelitis who showed unusual extraskeletal manifestations. The first patient developed an asymptomatic pulmonary consolidation; the second had an atypic localization of the associated pustulosis, which involved the trunk, groin, thighs and buttocks, but spared the palms and soles. We conclude that this disease is clinically more heterogeneous than previously thought.

Child↗

Frequency of relapse after discontinuation of methotrexate therapy for clinical remission in juvenile rheumatoid arthritis.

OBJECTIVE: To investigate the outcome of children with juvenile rheumatoid arthritis (JRA) who discontinued taking methotrexate (MTX) therapy after the achievement of clinical remission. METHODS: We conducted a retrospective review of the clinical course of all consecutive patients with JRA treated with MTX at our department. RESULTS: Seventeen of the 30 patients who responded to treatment entered clinical remission 6 to 30 mo after beginning MTX therapy. All patients were discontinued from MTX within 2 to 5 mo. Five patients relapsed within 9 mo, whereas 12 patients had sustained remission for 12 mo or longer. Four of 5 children with extended pauciarticular JRA relapsed early after MTX discontinuation. These patients were less responsive to a further cycle of MTX, and 3 showed progression of radiographic joint lesions. CONCLUSION: These findings suggest that MTX should be continued in patients with extended pauciarticular JRA even after the achievement of clinical remission.

Adolescent↗

Elevated circulating interleukin-7 levels in patients with systemic juvenile rheumatoid arthritis.

OBJECTIVE: Since interleukin-7 (IL-7) has been shown to induce monocyte production of IL-1, IL-6, IL-8, and tumor necrosis factor-alpha, we investigated plasma and synovial fluid levels of IL-7 in patients with juvenile rheumatoid arthritis (JRA). METHODS: IL-7 levels were measured using an ELISA in 60 patients with JRA and in 25 patients with other rheumatic disorders (ORD). RESULTS: In patients with systemic JRA, but not in patients with polyarticular or pauciarticular JRA or with ORD, plasma IL-7 levels were significantly higher (p < 0.0001) than those of healthy controls. IL-7 was undetected in all synovial fluid tested. Among patients with systemic JRA, those with persistent systemic symptoms had IL-7 levels significantly higher (p < 0.01) than those of patients in which systemic symptoms subsided. CONCLUSION: Plasma IL-7 levels are elevated in patients with systemic JRA and are associated with the presence and severity of systemic symptoms.

Adolescent↗

Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41.

Usher syndrome type II is associated with hearing loss and retinitis pigmentosa but not with any vestibular problems. It is known to be genetically heterogeneous, and one locus (termed USH2A) has been linked to chromosome 1q41. In an effort to refine the localization of USH2A, the genetic map of the region between and adjacent to the marker loci previously recognized as flanking USH2A (D1S70 and PPOL) is updated. Analysis of marker data on 68 Usher II families places the USH2A gene into a 2.1-cM region between the markers D1S237 and D1S229. The gene for transforming growth factor beta 2 (TGFB2) and the gene for the homeodomain box (HLX1) are both eliminated as candidates for USH2A, by virtue of their localization outside these flanking markers. The earlier finding of genetic heterogeneity was confirmed in six new families, and the proportion of unlinked Usher II families is estimated at 12.5%. The placement of the USH2A gene into this region will aid in the physical mapping and isolation of the gene itself.

Chromosome Mapping↗

[Bioadhesives: rationale, state of the art and therapeutic potential].

Pharmaceutical research is going on the way to formulate drugs in dosage forms and delivery systems able to improve their biopharmaceutical properties. For some routes of administration, among them the transmucosal ones, such improvements may be reached by increasing the time and the nature of the contact between mucosal tissues and drug dosage forms via chemical or physical bioadhesive links. Biopharmaceutical AFI Study Group efforts were oriented in analyzing the actual state of the art in the field of bioadhesive drug delivery. Rationals of use of drug dosage forms with bioadhesive properties, analytical method of control of bioadhesion (both in vitro and in vivo) and therapeutical potentialities are the matter of this review.

Animals↗

Intravenous iron therapy for severe anaemia in systemic-onset juvenile chronic arthritis.

The role of iron supplementation in treating the anaemia of systemic-onset juvenile chronic arthritis is not clear. Eight affected children with severe persistent anaemia unresponsive to oral iron therapy were treated with intravenous iron saccharate. From a median post-oral-iron value of 8.0 g/dL (range 6.5-9.5), haemoglobin rose to 11.0 g/dL (10.1-12.1) (p = 0.01). The concentration of serum transferrin receptor, an indicator of iron deficiency, before intravenous therapy correlated with the increase in haemoglobin (r = 0.88, p < 0.01). Intravenous iron saccharate could be an effective treatment for chronic anaemia in this condition, especially with iron deficiency not responsive to oral iron.

Adolescent↗

Calsequestrin is a component of smooth muscles: the skeletal- and cardiac-muscle isoforms are both present, although in highly variable amounts and ratios.

Expression by smooth-muscle cells of calsequestrin (CS), the low-affinity/high-capacity Ca(2+)-binding protein of striated-muscle sarcoplasmic reticulum (SR), has been investigated in recent years with conflicting results. Here we report the purification and characterization from rat vas deferens of two CS isoforms, the first deemed skeletal muscle, the second cardiac type, on account of their N-terminal amino acids and other relevant biochemical and molecular properties. Compared with vas deferens, the smooth muscles from aorta and stomach, in that order, were found to express lower amounts of CS, whereas in the uterus and bladder the protein was not detectable. The ratio between the two CS isoforms was also variable, with the stomach and aorta predominantly expressing the skeletal-muscle type and the vas deferens expressing the two CSs in roughly similar amount. Because of the property of CSs to localize within the skeletal-muscle SR lumen not uniformly, but according to the distribution of their anchorage membrane proteins, the expression of the protein suggests the existence in smooth-muscle cells of discrete endoplasmic-reticulum areas specialized in the rapidly exchanging Ca2+ storage and release, and thus in the control of a variety of functions, including smooth-muscle contraction.

Amino Acid Sequence↗

Anticardiolipin antibodies in pediatric systemic lupus erythematosus.

OBJECTIVE: To investigate the prevalence and the clinical significance of anticardiolipin antibodies (ACLs) in a group of children with systemic lupus erythematosus (SLE). DESIGN: Cross-sectional and longitudinal study. SETTING: Pediatric Clinic, University of Pavia, Italy. PARTICIPANTS: Thirty children (aged 4.9 to 16.5 years) with SLE. MEASUREMENTS AND MAIN RESULTS: Twenty-six (87%) of the 30 patients were initially positive for either IgG or IgM ACLs; 24 (80%) of 30 had IgG ACLs, and 15 (50%) of 30 had IgM ACLs. The cross-sectional analysis showed a trend for IgG ACLs to be positively associated with autoimmune cytopenia and negatively associated with renal disease. The levels of ACLs, particularly of the IgG isotype, tended to correlate with SLE activity as expressed by the complement fraction C3, the erythrocyte sedimentation rate, or the SLE Activity Measure, but not by the SLE Disease Activity Index or the anti-DNA antibodies. Serial determinations of ACL levels in 20 patients revealed frequent fluctuations. High levels of IgG ACLs (> 50 arbitrary units) were observed in nine patients; all nine had active disease and eight had one or more clinical features that have been previously associated with antiphospholipid antibodies: neuropsychiatric manifestations in six patients, autoimmune cytopenia in two patients, and avascular necrosis of bone in one patient. Only one patient experienced an overt episode of vascular thrombosis; IgG ACLs were positive at a medium level 6 months before the thrombotic event, but their level was unchanged when the thrombosis was discovered; the lupus anticoagulant test was positive at time of the thrombosis. CONCLUSIONS: Our results show that in pediatric SLE, ACLs are frequently found, high levels of IgG ACLs are often associated with central nervous system involvement, and ACLs have a low predictive value in the development of vascular thrombosis.

Adolescent↗

Antiphospholipid antibodies in paediatrics.

Antiphospholipid antibodies, i.e. circulating auto-antibodies to negatively charged phospholipids, are mainly observed in patients with systemic lupus erythematosus, but may also occur in individuals who lack evidence of a well-defined systemic disease. Several studies have suggested that they may play a direct role in the pathogenesis of recurrent vascular thrombosis, repeated abortions, and thrombocytopenia (so-called antiphospholipid antibody syndrome), although the mechanism by which this occurs is still poorly understood. The management of patients with antiphospholipid antibody-related thrombosis includes anti-aggregants, anticoagulants, corticosteroids, and cytotoxic drugs, but the optimum treatment is still controversial. Here we review the test systems used to detect antiphospholipid antibodies and their significance in paediatrics.

Adolescent↗

Hypocomplementemic urticarial vasculitis syndrome with severe systemic manifestations.

We describe two children with clinical and laboratory features of hypocomplementemic urticarial vasculitis syndrome. Both patients had severe, life-threatening manifestations: rapidly progressive glomerulonephritis (patient 1) and pulmonary hemorrhage (patient 2). We conclude that this syndrome may be a potentially severe multisystem disease.

Adolescent↗

Immune responses to the Escherichia coli dnaJ heat shock protein in juvenile rheumatoid arthritis and their correlation with disease activity.

Patients with juvenile rheumatoid arthritis frequently have abnormal immune responses to the hsp65 class of bacterial heat shock proteins. However, lymphocytes from children with other inflammatory diseases may also recognize hsp65, and the role of these antigens in juvenile rheumatoid arthritis remains controversial. We have studied humoral and cellular immune responses to a distinct, recently described bacterial heat shock protein, designated dnaJ. The Escherichia coli dnaJ gene was cloned and expressed, and the purified recombinant protein was used as an antigen. Neither normal children nor children with various chronic inflammatory diseases had lymphocyte proliferative responses to recombinant dnaJ. However, lymphocytes from patients with polyarticular, pauciarticular, and systemic manifestations of juvenile rheumatoid arthritis responded strongly to the antigen. Cellular immune responses to dnaJ were higher in synovial fluid than in blood and higher in children with active disease than in children in remission. These data show that increased immune reactivity to dnaJ is characteristic of juvenile rheumatoid arthritis and that the magnitude of the immune response is linked to disease activity. The results suggest that an abnormal immune response to antigens on commensal gut bacteria may contribute to the generation of chronic inflammation in juvenile rheumatoid arthritis.

Adolescent↗

Electrophoretic karyotypes of authentic strains of the sensu stricto group of the genus Saccharomyces.

A comparative electrophoretic karyotyping study was performed with several certified authentic strains of the four species that could be distinguished by nuclear DNA (nDNA)-nDNA reassociation data within the sensu stricto group of the genus Saccharomyces. A multivariate analysis of the polymorphisms observed in pulsed-field gel electrophoretic profiles (numbers and molecular weights of separated units) revealed that the strains could be separated into four clusters that corresponded to the taxa that were distinguished on the basis of nDNA comparisons. Discrepancies between nDNA reassociation data and membership in the corresponding clusters were observed only with two strains of Saccharomyces paradoxus. Blind tests carried out with additional industrial strains confirmed the general validity of the statistical model created for comparison of karyotypes within the species included in Saccharomyces sensu stricto.

Chromosomes, Fungal↗

Factors associated with response to methotrexate in systemic-onset juvenile chronic arthritis.

We retrospectively investigated, in 19 children with systemic-onset juvenile chronic arthritis (SoJCA), the possible influence on the outcome of methotrexate (MTX) therapy of several independent variables, including age at onset of juvenile chronic arthritis, disease duration and severity of the disease at baseline. The dosage of MTX ranged from 7.5 to 11.0 mg/m2/week (median 9.3 mg/m2/week) and was given as a single, oral weekly dose. After 6 months of treatment, 12 (63%) patients were judged as responders on grounds of a > or = 50% reduction in the number of joints with active arthritis and/or an articular severity score; 7 (37%) did not respond to therapy. When the baseline values of the selected variables were compared, we found that the responder group had, with respect to the non-responder group, a lower percentage of radiographic lesions (p < 0.005), a shorter duration of the disease (p < 0.05) and a lower number of joints with limitation of motion (p < 0.01), functional limitation score (p < 0.05) and articular severity score (p < 0.05). A threshold value of disease duration of two years and the presence/absence of radiographic lesions gave a correct classification with respect to the treatment outcome of 73.7% and 83.3%, respectively. The predictive value of these two variables was confirmed by a multivariate analysis. We conclude that earlier treatment with MTX, possibly before the appearance of radiographic changes, may favourably influence the outcome of MTX treatment in those patients with SoJCA who require a second-line drug.

Adolescent↗