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Biomedical subjects

A Martini

Publications and source records attributed to A Martini.

At least 109 records · Page 6Linked to original sources
PubMed1999

Responsiveness of clinical measures in children with oligoarticular juvenile chronic arthritis.

OBJECTIVE: To compare the relative responsiveness of outcome measures in children with oligoarticular course juvenile chronic arthritis (JCA). METHODS: Twenty-six consecutive children with JCA and < or =4 joints involved were assessed at admission and after 3 months of followup. Outcome measures included physician and parent global assessments, functional ability as measured by the Childhood Health Assessment Questionnaire (CHAQ), articular variables, and laboratory indicators of systemic inflammation. Responsiveness was calculated with the standardized response median, the effect size, and the Guyatt method. RESULTS: The physician global assessment of disease activity, the active joint count, the global articular severity score, and the number and score of swollen joints proved consistently more responsive with either responsiveness measure used. The parent global assessment of the child's well being, the scores of joints with pain/tenderness and limited range of motion, and the number of joints with limited range of motion showed intermediate responsiveness. The CHAQ, morning stiffness, and laboratory indicators of systemic inflammation were the least responsive measures. CONCLUSION: The subjective estimation of disease activity by the physician and the articular variables were the more responsive outcome measures in children with oligoarticular JCA. The assessment of functional ability as measured by the CHAQ showed a poor sensitivity to clinical change in this subset of patients with JCA.

Adolescent↗
PubMed1999

Mobilization and selection of peripheral blood hematopoietic progenitors in children with systemic sclerosis.

BACKGROUND AND OBJECTIVE: Autologous transplant of lymphocyte-depleted peripheral blood stem cells has been proposed for treatment of patients with severe autoimmune disease. However, until now, no data are available on the safety and feasibility of both stem cell collection and selection in pediatric patients with these disorders. We report on three children affected by systemic sclerosis with lung involvement, who received chemotherapy and granulocyte colony-stimulating factor (G-CSF) to mobilize autologous peripheral blood progenitors. DESIGN AND METHODS: The priming regimen consisted of cyclophosphamide (CY, 4 g/m(2)) and G-CSF (lenograstim, 10 microg/kg/day starting 2 days after cyclophosphamide administration until stem cell collection). Leukapheresis was performed when WBC and CD34+ cell count were at least 2 x 10(9)/L and 0.03 x 10(9)/L, respectively. In the first patient, positive selection of CD34+ cells was performed through the Ceprate SC stem cell concentrator (CellPro, Bothell, WA, USA). In the remaining 2 children, progenitor cells were also purged with negative selection of CD4+ and CD8+ lymphocytes performed by means of the Isolex 300i device (Baxter). RESULTS: All patients tolerated the priming regimen well and did not present any sign of autoimmune disease exacerbation. Collection was successful in all children and the number of CD34+ cells before selection ranged between 10.7 x 10(6) and 17.6 x 10(6)/kg of patient body weight. The selection of haematopoietic stem cells in the 3 patients resulted in at least 2. 6-log T-cell depletion of the cell content, with a recovery of the initial value of CD34+ cells comprised between 21 and 44%. After, a preparative regimen consisting of CY (200 mg/kg over 4 days) and Campath-1 G in vivo (10 mg/day for 2 consecutive days), patients were transplanted using cryopreserved lymphocyte-depleted progenitor cells. In all cases, a prompt hematopoietic engraftment was observed. INTERPRETATION AND CONCLUSIONS: Taken together these data suggest that mobilization, collection and selection of hematopoietic progenitors are safe and feasible in children with autoimmune disease.

Autoimmune Diseases↗
PubMed1999

[Audioscan automatic audiometry: theoretical basis and normative data].

Audioscan automatic audiometry is a high resolution method to explore hearing thresholds in the 125 Hz-16 KHz range offering a resolution of 64 points per octave. This procedure makes it possible to study hearing threshold levels at intermediate frequencies which are not measured by conventional audiometry. As suggested in the literature, it is possible to identify hearing threshold notches, considered indicators of mild or subclinical cochlear pathology. In clinical practice, the use of a new audiometric technique requires affirmation of reliability, sensitivity and replicability in time. It also requires defining standard criteria for use in various otologic pathologies. The present study examined 50 normal hearing subjects with conventional audiometry and Audioscan (Essilor model) measurements. A standard acquisition protocol was followed where three Audioscan measurements were conducted per subject. Subjects with a history of acute otologic pathology and familiarity for genetic deafness were ruled out of the study. Multiple, pairwise correlation analyses of the audiometric and Audioscan responses indicate that: (1) there are no significant differences between threshold levels measured by Audioscan and conventional audiometry; (2) there are no significant variations in the hearing levels measured by three Audioscan retests. Three mean indicators of the threshold level have been defined, expressing Audioscan normality in three different frequency ranges. The data suggest that there are some difficulties in the subjectivity of the Audioscan method and some technical problems regarding the lower octave frequencies and these need to be addressed. The results obtained in this study confirmed reliability of the Audioscan in the mid and high frequencies. The definition of the standard mi criteria makes it easier to interpret the Audioscan measurements from cases presenting various otologic pathologies. Therefore, the plasticity and high detection sensitivity of hearing loss make the automatic Audioscan audiometry a useful clinical tool for diagnostic and/or preventive purposes.

Adult↗
PubMed1999

Interleukin 8 and monocyte chemoattractant protein-1 in patients with juvenile rheumatoid arthritis. Relation to onset types, disease activity, and synovial fluid leukocytes.

OBJECTIVE: To measure serum and synovial fluid (SF) levels of interleukin 8 (IL-8) and monocyte chemoattractant protein-1 (MCP-1) in patients with juvenile rheumatoid arthritis (JRA) and to compare them with adult rheumatoid factor-positive rheumatoid arthritis (RA). METHODS: IL-8 and MCP-1 were measured by immunoassay (1) in sera obtained from 55 children with JRA and from 16 adults with RA, and (2) in SF obtained from 30 children with JRA and 11 adults with RA. RESULTS: Patients with active systemic JRA had serum levels of IL-8 and MCP-1 higher than in controls (p<0.01) and in patients with active polyarticular or pauciarticular JRA (p<0.05). In patients with RA serum MCP-1 levels were higher than in patients with the 3 JRA onset types, while no difference was found for IL-8 levels. Patients with systemic JRA and with current systemic features had serum levels of IL-8 and MCP-1 higher (p = 0.03 and p = 0.04, respectively) than patients in which systemic features had subsided. No significant differences in SF IL-8 or MCP-1 levels were found among the 3 JRA onset types or adults with RA. In patients with JRA SF leukocyte counts were correlated with SF IL-8 levels (p = 0.002), but not with MCP-1 levels. Moreover, SF levels of both IL-8 and MCP-1 were correlated with those of IL-1beta (p<0.001) and IL-6 (p<0.01), but not with those of TNF-alpha. CONCLUSION: Elevated serum levels of IL-8 and MCP-1 in patients with systemic JRA with current systemic features at sampling suggest systemic production of the 2 chemokines during systemic phases of the disease. Similar SF levels of IL-8 and MCP-1 among the 3 JRA onset-types and RA suggest comparable local production of the 2 chemokines.

Adolescent↗
PubMed1998

Radiologic progression in patients with juvenile chronic arthritis treated with methotrexate.

We investigated the rate of radiologic progression, as measured by carpal length, in 26 children with juvenile chronic arthritis who were treated with methotrexate. After 2 years of treatment, the carpal length was significantly more deteriorated in nonresponders in both the "better" wrist (P = .001) and the "worse" wrist (P = .005). These results show that methotrexate may have a "disease modifying" potential in juvenile chronic arthritis.

Adolescent↗
PubMed1998

Prevalence rates of hearing impairment and comorbid conditions in older people: the Veneto Study.

OBJECTIVES: To investigate the prevalence rate of hearing impairment, assessed by both the Sanders' questionnaire and the speech audiometry test, and its association with health-related factors in the older population of the Veneto region of Italy. DESIGN: A cross-sectional survey. SETTING: A community-based population. PARTICIPANTS: 2398 noninstitutionalized individuals aged 65 years and older residing in the Veneto region of Italy. MEASUREMENTS: Prevalence rates of hearing impairment and odds ratios for its association with potential risk factors. MAIN RESULTS: The prevalence of self-reported hearing impairment at home was 8.1% in men and 7.4% in women, and in a social environment it was 11.1% and 9.3%, respectively. Women were less likely to report hearing difficulties in both environments, and increased risks were found for depression, age, and poor self-rated health. Participants with diabetes or cognitive impairment had increased odds only at home, in contrast to people with a low education level, who had increased odds only in a social environment. The prevalence assessed by speech audiometry was 19% in both sexes. Increased age, diabetes, and poor self-rated health were associated with impaired speech intelligibility, cognitive impairment was associated with 4-fold increased odds among past users of alcohol, and men with a low education level were about three times as likely as others to have hearing impairment. CONCLUSIONS: Speech audiometry testing detected a higher prevalence of hearing impairment than use of a self-reported questionnaire and was associated with poor self-rated health, history of diabetes, and cognitive impairment among past users of alcohol and among men with low levels of education. The association between hearing deficit and depressive symptomatology was confirmed only with self-reported hearing impairment.

Aged↗
PubMed1998

Performance of the preliminary definition of improvement in juvenile chronic arthritis patients treated with methotrexate. Italian Pediatric Rheumatology Study Group.

OBJECTIVE: To investigate the performance of the core set of outcome measures and the preliminary definition of improvement (PDI) in the assessment of response to methotrexate (MTX) treatment in children with juvenile chronic arthritis (JCA). METHODS: Data were obtained from an open label, non-controlled trial designed to investigate the efficacy of MTX in children with JCA. All patients had the core set of variables assessed at baseline and after six months of treatment. Variables in the core set are: (1) physician global assessment of disease activity; (2) parent or patient (if appropriate in age) global assessment of overall well being; (3) functional ability; (4) number of joints with active arthritis; (5) number of joints with limited range of motion; (6) erythrocyte sedimentation rate. The PDI specifies that to be classified as improved, a patient must show at least 30% improvement from baseline in three of any six variables in the core set, with no more than one of the remaining variables worsening by more than 30%. RESULTS: A total of 111 JCA patients were included in the study. According to the PDI, after six months of MTX treatment 73 patients (66%) were classified as improved and 38 (34%) as not improved. Among the core set variables, parent assessment detected the highest percentage of patients improved (72%) and functional assessment the lowest (37%). CONCLUSION: The PDI identifies about two thirds of patients with JCA treated with low dose MTX as improved. This proportion is similar to that expected to improve based upon a previous controlled study of low dose, oral MTX and provides preliminary evidence of the definition's validity.

Adolescent↗
PubMed1998

Heart involvement in systemic sclerosis: an ultrasonic tissue characterisation study.

BACKGROUND: Clinicoepidemiological findings indicate that symptomatic heart involvement in patients with systemic sclerosis (SSc) predicts a very poor prognosis. At necropsy studies, SSc heart involvement without significant coronary lesions is characterised by patchy myocyte necrosis and contraction band necrosis with collagen replacement leading to myocardial fibrosis. There is a discrepancy between the frequency of clinically evident myocardial disease (25%) and autoptical myocardial fibrosis (81%). OBJECTIVE: The aim of this study was to detect preclinical myocardial alterations in SSc patients by ultrasonic videodensitometric analysis. METHODS: Thirty five SSc patients (three male, aged 48.6 (11) SD years, range 22-65) with normal ventricular function and 25 age and sex matched healthy controls were studied. All patients had a negative maximal exercise stress; in all cases arterial hypertension, renal involvement, and diabetes were excluded. Echocardiographic images were digitised by a real time videodigitiser (Tomtec Imaging Systems). Quantitative texture analysis was performed on data from the septum and the posterior wall, obtaining mean gray level histogram (MGL) at both end-diastole (d) and end-systole (s). The cyclic variation index (CVI), was calculated according to the formula ((MGLd-MGLs)/MGLd) x 100. Left ventricular mass (LVM), body surface corrected, was calculated according to Penn convention. RESULTS: Comparable systolic and diastolic blood pressure, LVM, diastolic and systolic function were recorded in both SSc patients and controls. In contrast, in SSc patients the CVI, which is the expression of the intrinsic myocardial structural function, was significantly lower than in controls (septum: -18 (28)% v 35 (10)%, p < 0.0001; and posterior wall: -13 (32)% v 50 (20)%, p < 0.0001). Changes in cyclic echo amplitude, probably related to myocardial fibrosis, were detected in the large majority of SSc patients (88%). CONCLUSIONS: Ultrasonic videodensitometric analysis represents a non-invasive, feasible method that can detect early myocardial changes in SSc patients, which could be related to both fibrosis and microcirculatory abnormalities. Their potential evolution towards ventricular dysfunction and their link with cardiac sudden death, because of severe conduction system or rhythm disturbances, should be further investigated.

Adult↗
PubMed1998

Factor V Leiden mutation in a case with ischemic stroke: which relationship? A case report.

A 50-year-old man presented spontaneous internal carotid artery dissection with ischemic stroke. He had a history of deep venous thrombosis, and an activated protein C resistance due to factor V Leiden mutation was documented. He showed no other vascular risk factor. This unusual case puts the question whether this coagulation defect may be related to the stroke occurrence.

Aortic Dissection↗
PubMed1998

[Evaluation of a linear TEOAE protocol in hearing screening of neonates: feasibility study].

The audiological screening of newborns based on recording TEOAEs--the expression of anatomical-functional integrity of the cochlea--has unanimously gained importance. The prevalence of severe of genetic or congenital hearing loss in the healthy infant population and in the population at risk for audiological disorders, as well as the consequent psycholinguist and socialization problems such children have to deal with, have led the authors to set up a preliminary protocol for the audiological screening of neonates. The purpose of this protocol is to improve the feasibility of applying such a program. To this purpose, the preliminary protocol called for the recording of the TEOAE in both non linear (NL) and linear (L) modes. Examination was performed in 347 newborns (30% of all the children born during 1997) the second day of life and during spontaneous sleep. The ILO 92 was used for the screening. The results obtained with the two methods were statistically compared using the 9 parameters considered response indicators. Using the linear method of a function-window and improving the signal-to-noise ratio, the study showed a significant difference in the quality of the TEOAE using the linear method as compared with the non linear method, although this did not modify response reliability. This lead to the definition, through free distribution statistical analysis, of broader than normal criteria by which to evaluate the responses evoked with the L method. All this is aimed at increasing system specificity and reducing the number of false positives which feeds family anxiety.

Acoustic Stimulation↗
PubMed1998

[Genetic type of progressive hearing loss].

In daily practice we tend to underestimate hereditary factors as a cause of hearing impairment especially in those cases of late-onset and progressive hearing loss. Genetic hearing impairment may be congenital but it also may develop at any decade throughout life or deteriorate as part of a pre-existing congenital or acquired hearing impairment. Over the past 5 years, hereditary diseases associated with hearing impairment have been mapped, and several of genes have already been identified. Identification of genes causing hereditary deafness, as with other genetic diseases, goes through two stages: first mapping, then cloning. One method used to identify candidate genes based on their function or pattern of tissue expression involves the construction of cDNA libraries from the target organ or tissue, in this case from the cochlea. Studies of the molecular genetics of the inner ear are hampered by its relative inaccessibility, by the limited numbers of cochlear and vestibular cells, and by our inability to maintain many of these cell types in long term culture. The construction and characterization of cochlear cDNA libraries from humans and other species provide an important resource for rapid identification of cochlear genes involved in normal hearing and in hearing disorders; cDNA libraries constructed at different stages of development, and subtracted from each other, could be instrumental in identifying genes important at each stage of development of the cochlea. Libraries made from different tissues within an organ (i.e. inner vs outer hair cells) could be compared to identify genes that are needed for the differentiation of the cells into specific types. In addition, these libraries have the potential to foster identification of other proteins unique to the cochlea and will contribute to the identification, characterization, and functional analysis of these cochlea-specific proteins. Another important application of cDNA libraries is for identifying hearing loss genes. Once the candidate gene for a given type of hearing loss is cloned and decoded, the structure of its protein product can be determined. This will provide insights into biochemical function of the gene product in normal cochlear tissue, and will show why the genetic mutation result in hearing loss. Pedegree analysis and audiometric morphology have been widely used to attempt a subcategorisation of many isolated or familial "genetic" cases. A debatable point is the influence of aging on a genetic hearing loss. Effects due to genetic factors are often not easily distinguishable from the age-related factors. According to our findings, the progression of hearing loss present in several different patterns, according to the different interactions between hereditary hearing loss and presbycousis.

Adolescent↗
PubMed1998

Methotrexate therapy in refractory pediatric onset systemic lupus erythematosus.

OBJECTIVE: To evaluate the efficacy, safety, and corticosteroid sparing potential of methotrexate (MTX) in patients with pediatric onset systemic lupus erythematosus (SLE). METHODS: The medical records of 11 patients with SLE with onset before age 16 years were reviewed. Details of clinical features, previous therapy, indications for MTX, efficacy, toxicity, and corticosteroid reduction during MTX therapy were recorded. RESULTS: At the start of MTX treatment, 7 patients had nephritis, 3 malar rash, 3 arthritis, 2 skin vasculitis, and 2 thrombocytopenia. All patients were given MTX (12.5-17.0 mg/m2/week) as the sole drug therapy along with prednisone. Although many patients showed initial improvement and/or were able to reduce the prednisone dose, after 7 to 23 months 8 patients had a flare of SLE requiring increased doses of prednisone, one patient had unchanged SLE activity, and 2 patients were permanently discontinued from MTX because of toxicity. Side effects were observed in 8 (73%) patients, but only 2 (18%) discontinued MTX due to toxicity. CONCLUSION: MTX given as the sole drug therapy along with prednisone did not show a major corticosteroid sparing potential in our patients with pediatric onset SLE.

Adolescent↗
PubMed1997

An introduction to the genetics of normal and defective hearing.

The recent rapid development of molecular biology techniques applied to the genetics of normal and defective hearing shed a new light on old questions regarding hearing and deafness. Genes are DNA sequences that determine characteristics, normally by specifying the sequence of aminoacids in a protein. The majority of genes is located in the chromosomes (human chromosomes have perhaps 80,000 pairs of genes). In addition there are 37 mithochondrial genes which are inherited only from the mother. One method used to identify candidate genes based on their function or pattern of tissue expression involves the construction of cDNA libraries from the target organ or tissue, in this case from the cochlea. The construction and characterization of cochlear cDNA libraries from humans and other species provide an important resource for rapid identification of cochlear genes involved in normal hearing and hearing disorders. Studies of the molecular genetics of the inner ear are hampered by the relative inaccessibility of the cochlea, by the limited number of cochlear and vestibular cells, and by our inability to maintain many of these cell types in long-term cultures. Several rodent inner-ear cDNA libraries and a human foetal cochlear cDNA library have already been constructed. Human and rodent cochlea-subtracted cDNA libraries are very useful for identifying genes controlling the development and maintenance of hearing. cDNA libraries constructed at different stages of development, and subtracted from each other, could be instrumental in identifying genes important at each stage of cochlear development. In addition, these libraries have the potential of fostering the identification of other proteins unique to the cochlea and will contribute to the identification, characterization, and functional analysis of these cochlea-specific proteins. Another important application of cDNA libraries is in identifying hearing-loss genes. Once the candidate gene for a given type of hearing loss is cloned and decoded, the structure of its protein product can be determined. This will provide insights into the biochemical function of the gene product in normal cochlear tissue, and will show why the genetic mutation results in hearing loss, that is, the recent identification of the myosin VIIa gene in Usher type IB. In addition, through the use of homologous recombination and transgenic technology, in vivo mouse models of inner-ear genetic disorders can be created. To date, 350 different genetic conditions associated with hearing impairment have been described, and during the past five years several of the genes involved in these form have already been mapped and identified.

Animals↗
PubMed1997

Interleukin 6 causes growth impairment in transgenic mice through a decrease in insulin-like growth factor-I. A model for stunted growth in children with chronic inflammation.

Stunted growth is a major complication of chronic inflammation and recurrent infections in children. Systemic juvenile rheumatoid arthritis is a chronic inflammatory disorder characterized by markedly elevated circulating levels of IL-6 and stunted growth. In this study we found that NSE/hIL-6 transgenic mouse lines expressing high levels of circulating IL-6 since early after birth presented a reduced growth rate that led to mice 50-70% the size of nontransgenic littermates. Administration of a monoclonal antibody to the murine IL-6 receptor partially reverted the growth defect. In NSE/hIL-6 transgenic mice, circulating IGF-I levels were significantly lower than those of nontransgenic littermates; on the contrary, the distribution of growth hormone pituitary cells, as well as circulating growth hormone levels, were normal. Treatment of nontransgenic mice of the same strain with IL-6 resulted in a significant decrease in IGF-I levels. Moreover, in patients with systemic juvenile rheumatoid arthritis, circulating IL-6 levels were negatively correlated with IGF-I levels. Our findings suggest that IL-6-mediated decrease in IGF-I production represents a major mechanism by which chronic inflammation affects growth.

Adolescent↗
PubMed1997

Preliminary definition of improvement in juvenile arthritis.

OBJECTIVE: To identify a core set of outcome variables for the assessment of children with juvenile arthritis (JA), to use the core set to develop a definition of improvement to determine whether individual patients demonstrate clinically important improvement, and to promote this definition as a single efficacy measure in JA clinical trials. METHODS: A core set of outcome variables was established using a combination of statistical and consensus formation techniques. Variables in the core set consisted of 1) physician global assessment of disease activity; 2) parent/patient assessment of overall well-being; 3) functional ability; 4) number of joints with active arthritis; 5) number of joints with limited range of motion; and 6) erythrocyte sedimentation rate. To establish a definition of improvement using this core set, 21 pediatric rheumatologists from 14 countries met, and, using consensus formation techniques, scored each of 72 patient profiles as improved or not improved. Using the physicians' consensus as the gold standard, the chi-square, sensitivity, and specificity were calculated for each of 240 possible definitions of improvement. Definitions with sensitivity or specificity of <80% were eliminated. The ability of the remaining definitions to discriminate between the effects of active agent and those of placebo, using actual trial data, was then observed. Each definition was also ranked for face validity, and the sum of the ranks was then multiplied by the kappa statistic. RESULTS: The definition of improvement with the highest final score was as follows: at least 30% improvement from baseline in 3 of any 6 variables in the core set, with no more than 1 of the remaining variables worsening by >30%. The second highest scoring definition was closely related to the first; the third highest was similar to the Paulus criteria used in adult rheumatoid arthritis trials, except with different variables. This indicates convergent validity of the process used. CONCLUSION: We propose a definition of improvement for JA. Use of a uniform definition will help standardize the conduct and reporting of clinical trials, and should help practitioners decide if a child with JA has responded adequately to therapy. We are in the process of prospectively validating this definition and several others that scored highly.

Arthritis, Rheumatoid↗