Biomedical subjects

P Cipriani

Publications and source records attributed to P Cipriani.

At least 19 recordsLinked to original sources

PubMed2001

del (9p) syndrome: proposed behavior phenotype.

Over recent years interest in the study of behavior phenotypes has gained increasing momentum. We present three white female patients, age respectively 9 years 9 months, 14 years 6 months and 18 years at the time of the last observation, seen because of developmental delay/mental retardation, seizures and learning disabilities. Cytogenetic analysis showed a de novo deletion of the short arm of chromosome 9 in all three, with the breakpoint being located at band 9p22. Although several studies have described the somatic phenotype, analytical evaluation of verbal and non-verbal cognitive functions are lacking. Our patients received a detailed neuropsychological and linguistic evaluation that showed a particular behavior profile, in the context of mental retardation of variable degree. On selective tests there was a marked deficit in visuo-praxic and visuo-spatial skills associated with memory disturbance. Visuo-motor integration abilities [VMI; Beery, 1997] and visuo-perceptual and visuo-spatial abilities [Benton line orientation test, 1992] seemed particularly impaired, both in relation to verbal mental age (vocabulary and grammatical production/comprehension) and to some non-verbal competencies [Benton face recognition test, 1992]. The profile shows advanced performances in face recognition. In addition, there is also a dissociation between verbal and visuo-spatial short term memory. This behavior phenotype is similar to that of Williams syndrome (WS) individuals. Our patients also showed some unusual within-domain dissociations regarding linguistic abilities. To better demonstrate similarities and differences between the behavior phenotypes of the del (9p22) syndrome and WS, we studied three IQ-gender-matched WS subjects. The comparison between the cognitive phenotypes of the two syndromes shows similarities in neuropsychological pattern. We hypothesize that there is a gene within the 9p22 region responsible for the neuropsychological profile described here.

Adolescent↗

PubMed2001

The italian determiner system in normal acquisition, specific language impairment, and childhood aphasia.

The paper presents a comparison of the development of the Italian determiner system in three different populations: normally developing children, a child recovering from childhood aphasia from the age of 3 years, 9 months, and 11 specific language impairment (SLI) children. Data from Italian normal children provide evidence for the hypothesis (1) that no prefunctional stage exists as far as the determiner system is concerned and (2) that the syntactic properties of determiners play an essential triggering role early on. The analysis of the determiner system in the aphasic child has a double interest. On the one hand, it may help to shed light on some of the intriguing questions concerning this type of disorder; on the other, it may be relevant for the discussion of the notion of agrammatism. Results of the morphosyntactic analysis reveal that, apart from timing differences, recovery from childhood aphasia shares important features with normal development. Differently from mean length of utterance (MLU)-matched normal controls and the aphasic child, SLI children omit determiners significantly more often than almost any other functional category or free morpheme. We will argue that the reasons for the SLI children's atypical behavior have to be sought in the nonaccessibility to or in the misappreciation of one fundamental syntactic property of determiners: their role as elements that assign argumenthood to nominal expressions (Szabolcsi, 1987; Longobardi, 1994).

Aphasia↗

PubMed2001

Circulating gamma/delta T lymphocytes from systemic sclerosis (SSc) patients display a T helper (Th) 1 polarization.

Systemic sclerosis (SSc) is a connective tissue disease in which immune system activation is evidenced by high levels of different cytokines in the sera and/or in the supernatants of cultured peripheral blood mononuclear cells (PBMC) and by the presence of specific autoantibodies. gamma/delta T cells accumulate in the lung and the skin of SSc patients suggesting their potential role in the development and maintenance of the disease. The aim of this study was to assess cytokine production and cytotoxic activity of circulating gamma/delta T lymphocytes obtained from SSc patients and to evaluate their potential role during this disorder. Our results showed that both the proportion and the absolute number of IFN-gamma gamma/delta-producing cells (i.e. displaying a Th1 polarization) in SSc was significantly higher than either the proportion and the absolute number of IL-4 gamma/delta-producing cells in SSc or the proportion and the absolute number of IFN-gamma gamma/delta-producing cells in healthy controls (P < 0.05 for both groups). Furthermore, the cytotoxic activity of enriched gamma/delta T cells was significantly increased in SSc patients compared with controls. The results concerning the Vdelta1+ T cell subset paralleled those of total gamma/delta T lymphocytes. In contrast, alpha/beta T cells from SSc and control subjects displayed Th2 cytokine production. All these findings were independent of both disease subset and clinical status. Our data demonstrate that, although SSc is generally considered a Th2 autoimmune disease, Th1 polarization of gamma/delta T cells and an increase in their cytotoxic activity is observed in SSc, suggesting that gamma/delta T cells could have a relatively autonomous role in the pathogenesis in this disease.

Adult↗

PubMed2001

Nerve growth factor and neuropeptides circulating levels in systemic sclerosis (scleroderma).

OBJECTIVE: To determine the circulating levels of nerve growth factor (NGF), neuropeptide Y (NPY), and vasoactive intestinal peptide (VIP) in systemic sclerosis (SSc), and to correlate these levels with clinical and laboratory features. METHODS: Forty four patients with SSc were evaluated for circulating NGF (immunoenzymatic assay), NPY and VIP (radioimmunoassay), anticentromere and antitopoisomerase I autoantibodies, lung disease (pulmonary function tests with carbon monoxide transfer factor (TLCO), ventilation scintiscan with 99mTc DTPA radioaerosol, high resolution computed tomography (HRCT), pulmonary pressure (echo colour Doppler)), heart disease (standard and 24 ECG, echocardiography), cutaneous involvement (skin score), joint involvement (evidence of tender or swollen joints, or both), peripheral nervous system (PNS) involvement (electromyography), rheumatoid factor, angiotensin converting enzyme (fluorimetric method), von Willebrand factor (ELISA), and erythrocyte sedimentation rate (ESR) (Westergren). RESULTS: Circulating NGF levels in SSc were significantly increased compared with controls (p<0.00001) and significantly higher in the diffuse than in the limited subset of patients (p<0.01). Patients with articular disease had significantly higher levels of NGF. A significant indirect correlation between NGF levels and TLCO was detected (p<0.01), but no correlation was found between NGF and HRCT, DTPA, skin score, PNS involvement and angiotensin converting enzyme and von Willebrand factor levels, antitopoisomerase or anticentromere antibodies, and ESR. NGF levels increased progressively as the disease worsened. Similarly, VIP circulating levels were significantly increased in patients with SSc (p<0.001), whereas the increase of NPY levels did not reach statistical significance. However, both neuropeptides, following the same trend as NGF, increased as the disease worsened (skin score and lung disease). CONCLUSIONS: The increase of NGF and VIP in patients with SSc, the former in the diffuse subset of the disease, and in patients with prominent articular disease, may suggest a link between neurotransmitters and the disease pathogenesis. Neuropeptide circulating levels seem to increase only in patients with the most severe disease.

Biomarkers↗

PubMed2001

AP-PCR typing of Pseudomonas aeruginosa isolated from patients with cystic fibrosis.

Arbitrarily Primed Polymerase Chain Reaction has been used for an epidemiological evaluation of 42 strains of P. aeruginosa isolated from nine cystic fibrosis patients during a three-year investigation period. The resistance patterns of the same strains have also been evaluated. The AP-PCR type fingerprinting was perfomed with primers 10514 and 208. Resistance was evaluated by the Minimal Inhibitory Concentration method. With 10514 eleven different genotypes could be evidenced, while with 208 only five of them could be detected. During the investigation period patients were always colonised by the same genotype. A possible correlation between resistance pattern and genotype with both primers has shown, within the same patient, a correspondence of about 20% for 10514 and a correspondence of only 10% for 208. Patients are colonised by one or two strains of P. aeruginosa and there is no relation between genotype and resistance pattern.

Adult↗

PubMed2000

Plasticity and reorganization during language development in children with early brain injury.

Although some studies have reported subtle language deficits following early focal brain lesions (EFBL), most studies find no evidence for differential language outcomes as a function of lesion side or lesion type in children with congenital injuries to one side of the brain. However, recent prospective studies of the first stages of language development in English-speaking children with EFBL have reported greater delays in expressive vocabulary in children with left-hemisphere damage, particularly if the lesion involves left temporal cortex. In the present study, first stages in the development of word production were studied in 43 Italian children with congenital EFBL, between 13 and 46 months of age. As a group, the EFBL children were markedly delayed in expressive vocabulary. Among children who were in the first stage of language learning, delays were significantly greater with left-hemisphere injury. However, this left-right difference was not evident in children who had moved on to the next stage of language development, producing at least some sentences. Discussion centers on the role of developmental plasticity in determining the outcomes of early focal brain injury, suggesting that recovery from initial delays may take place in the early stages of language development, at least for some children.

Brain↗

PubMed2000

Reversible brain creatine deficiency in two sisters with normal blood creatine level.

We describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. Blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. Diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatine in the brain. Creatine monohydrate oral administration led to almost complete brain creatine level restoration along with improvement of the patients' disabilities.

Brain Chemistry↗

PubMed1999

"Developmental dysmnesia": a case report.

We report a 9-year-old girl who presented from an early age a severe and specific verbal memory disorder, in the absence of a definite etiology. The results of an extensive neuropsychological assessment showed a dissociation between normal visuo-spatial memory abilities and a marked short-term and long-term verbal memory impairment. We argue that our case is affected by "developmental dysmnesia", a condition so far described in two cases only (De Renzi and Lucchelli, 1990, and Temple, 1997). The disorder affected episodic as well as semantic verbal memory. The long term effects on learning and cognition of a memory deficit occurring early in childhood are discussed.

Child↗

PubMed1999

Pseudomonas aeruginosa antibody detection in cystic fibrosis patients.

Chronic respiratory infection due to Pseudomonas aeruginosa remains the most important prognostic factor in cystic fibrosis patients. One method to lengthen the patient's life is to extend the initial state of the illness with an early diagnosis, before Ps. aeruginosa infection becomes chronic. Often this is difficult because of the young age of the patients. This study tested an immunoenzymatic system to evaluate antibody response against three Ps. aeruginosa purified antigens, alkaline protease, elastase and exotoxin A. We studied 40 patients with cystic fibrosis, 20 affected and 20 unaffected by apparent Ps. aeruginosa infection, also from the bacteriological point of view. Serological and bacteriological results were compared for each patient and showed that serological screening can be useful in young subjects, who often have no bacteriological evidence of Ps. aeruginosa colonization.

ADP Ribose Transferases↗

PubMed1999

Antibody response to P. aeruginosa in patients with cystic fibrosis: evaluation of two methods.

The immunological response to Ps. aeruginosa antigens may be a sensitive and early indicator of the colonisation of the lungs with these organisms in patients with cystic fibrosis. This study used an immunoenzymatic system and immunoblotting to evaluate the antibody response of 20 patients without apparent Ps. aeruginosa lung infection. These was an agreement in the results obtained with the two methods in 87.5% of cases.

Antibodies, Bacterial↗

PubMed1998

Circulating Vdelta1+ T cells are activated and accumulate in the skin of systemic sclerosis patients.

OBJECTIVE: An increased percentage of Vdelta1+/gamma/delta T cells has been detected both in the peripheral blood and bronchoalveolar lavage fluid of patients with systemic sclerosis (SSc). This study evaluated the subset distribution, activation status, and expression of cellular adhesion molecules, such as intercellular adhesion molecule 1 (CD54), very late activation antigen alpha4 (CD49d), and lymphocyte function-associated antigen 1alpha (CD11a), on circulating gamma/delta T cells, as well as their presence in the skin of SSc patients. METHODS: We studied 12 patients with SSc and 16 healthy volunteer donors. The distribution, activation status, and expression of cellular adhesion molecules were studied by flow cytometry; their presence in SSc patient skin was evaluated by immunohistochemistry. RESULTS: We found that the percentages and absolute numbers of peripheral blood gamma/delta T cells, CD16, CD8, CD45RO, CD25, HLA-DR, CD54, and CD11a coexpression did not differ significantly from those of the controls. CD49d gamma/delta T cells were significantly increased in SSc patients (2.3%) compared with controls (0.5%). A marked increase in the ratio of Vdelta1+ cells to gamma/delta cells was observed in the patients (72%) compared with the controls (31%). The Vdelta1+ subset showed a significant expression of both HLA-DR (83% of total Vdelta1+ cells) and CD49d (90% of total Vdelta1+ cells) compared with the controls (20.5% and 60%, respectively). In the skin, the absolute numbers of gamma/delta T cells were found in striking amounts in perivascular areas, particularly in the early edematous phase of SSc (22.58 in patients and 0 in controls); the majority of gamma/delta T cells were Vdelta1+ (19 in patients and 0 in controls). In the advanced phase of SSc, Vdelta1+ T cells were also increased compared with controls (3.5 versus 0). CONCLUSION: Our results show that Vdelta1+ T cells express both adhesion molecules and activation markers, and strongly support gamma/delta T cell homing to sites of inflammation. The increase in the Vdelta1 subset suggests a selective V gene subset expansion.

Adult↗

PubMed1998

Serum levels of soluble CD30 are increased in ulcerative colitis (UC) but not in Crohn's disease (CD).

Imbalance in Th1 and Th2 subsets and their derived cytokines seems to be involved in the immune abnormalities underlying UC and CD. CD30 is a member of the tumour necrosis factor/nerve growth receptor superfamily expressed on T cells producing Th2 cytokines and released as a soluble form. In this study high levels of soluble CD30 were found in sera of UC patients independently of disease activity. Furthermore, increased titres of soluble CD30 molecule were shown, in the same patients, by mitogen-stimulated cultures of peripheral blood mononuclear cells. Our data seem to indicate that an activation of Th2 immune response is involved in the pathogenesis of UC, but not of CD. Furthermore, this finding indicates that serum soluble CD30 measurement may be helpful for differentiating these two forms of inflammatory bowel disease.

Adolescent↗

PubMed1998

Antibiotics at sub-inhibitory concentrations and virulence factors of Pseudomonas aeruginosa.

The difficulty of instituting an efficacious therapy against Pseudomonas aeruginosa infections is principally due to the microorganism's antibiotic resistance. The aim of our study was to evaluate the activity of four antibacterial drugs, two penems and two quinolones, on the production of virulence factors. Our results demonstrated that the antibiotics tested have a different behaviour depending on the P. aeruginosa phenotype. Therefore it would be advisable to choose the drug on the basis of the isolated strain phenotype.

Alginates↗

PubMed1998

Study of IgG antibodies to Pseudomonas aeruginosa in early cystic fibrosis infection.

Intermittent colonization, which then becomes chronic, characterises pseudomonas lung infection in cystic fibrosis (C.F.) patients. Bacteriologic studies do not always detect this evolution, which, however, may be identified by serological examinations. The aim of this study was to apply the immunoblotting method in order to monitor the antibody response toward a Ps. aeruginosa standard antigen (St-Ag). The results were analyzed and focussed on the bacterial and clinical data. Patients with intermittent colonization were studied between 1995 and 1997. Ninety per cent of the patients were positive to total IgG and subclass IgG1 in correspondence with the bacteriological finding. Further investigation is called for regarding the presence of IgG4 in order to establish whether it could be considered an index of chronic status.

Antibodies, Bacterial↗

PubMed1997

Circulating levels of soluble CD30 are increased in patients with systemic sclerosis (SSc) and correlate with serological and clinical features of the disease.

Activated Th2 lymphocytes express the surface molecule CD30 and release a soluble form of the same molecule which can be detected both in vivo and in vitro. In the present study, high levels of soluble CD30 were found in the peripheral blood of patients with SSc, and a significant correlation with skin score and erythrocyte sedimentation rate (ESR) was detected. Furthermore, we observed a higher spontaneous release of soluble CD30 in the supernatants of unstimulated cultures of peripheral blood mononuclear cells from our patients compared with healthy controls. Taken together, these data suggest a possible involvement of Th2 cells in the immunopathogenesis of SSc, and the dosage of CD30 soluble in the peripheral blood may be helpful in following the outcome of the disease.

Adult↗

PubMed1997

Different serological examinations in cystic fibrosis patients: response to Pseudomonas aeruginosa St-Ag.

Crossed immunoelectrophoresis (CIE), enzyme linked immunosorbent assay (ELISA) and immunoblotting (IMB) were used to look for the presence of anti-bodies to Pseudomonas aeruginosa standard antigen in the sera of cystic fibrosis patients with intermittent (CF +/- P) and chronic (CF + P) colonization. Our results show that CIE is too complex a method to use when monitoring the infection over time, that with ELISA a correlation with the patient's clinical status may be made and that IMB can evidence an early, albeit low, reaction in the CF +/- P patient.

Adult↗

PubMed1996

Precipitating Pseudomonas aeruginosa antibodies and antimicrobial therapy in cystic fibrosis patients.

Forty patients with cystic fibrosis were studied bacteriologically and serologically. Precipitating Pseudomonas aeruginosa antibodies were monitored by crossed-immunoelectrophoresis (CIE) in order to evaluate the possibility of preventing chronic colonization by Pseudomonas aeruginosa by cycles of antimicrobial therapy. Sputum or pharyngeal aspirate and serum samples from all patients were analyzed by means of spread on selective media and CIE, respectively. Significant differences in the number of precipitins were obtained: noncolonized and intermittently colonized patients had no precipitins, whereas the number of precipitins in the chronically colonized patients varied from 11 to 44. An increase in the number of precipitins could be a good marker for initiation of therapy with antimicrobial agents that are either active against Pseudomonas aeruginosa or able to inhibit the release of virulence factors.

Adolescent↗

PubMed1996

Peripheral blood mononuclear cells of patients with systemic sclerosis produce increased amounts of interleukin 6, but not transforming growth factor beta 1.

OBJECTIVE: To assess the ability of peripheral blood mononuclear cells (PBMC) of patients with systemic sclerosis (SSc) to produce interleukin 6 (IL-6), transforming growth factor beta 1 (TGF-beta 1), to identify the IL-6 producer cells in the in vitro model, and to correlate these data with the clinical evidence of our patients. METHODS: We used a sandwich ELISA to quantitate IL-6 and TGF-beta 1 levels in sera, plasma, and supernatants, and an imunofluorescence technique to evaluate IL-6 producing cells in our patients. RESULTS: IL-6 was detected in sera from 8 of 20 patients and no controls (p < 0.05). A significant increase of IL-6 production was observed in both spontaneous and phytohemagglutinin (PHA) induced cultures of PBMC from patients with SSc vs controls. No differences in TGF-beta 1 production were observed, either in sera or supernatants, between patients and controls. A significant increase of IL-6 synthesizing cells was observed after 3 h of PHA stimulation in patients vs controls (p < 0.05). CONCLUSION: Spontaneous IL-6 production and the higher number of IL-6 producing cells in patients with SSc suggest that these cells have been already primed in vivo. The absence of PBMC primed for TGF-beta 1 production supports the hypothesis that cells other than lymphocytes produce and secrete this cytokine in the skin of patients. Higher serum levels of IL-6 observed in a subset of patients did not correlate with either severity or duration of disease.

Adult↗