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Biomedical subjects

G Nigro

Publications and source records attributed to G Nigro.

At least 55 records · Page 3Linked to original sources
PubMed1996

Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies.

OBJECTIVE: To characterize the presence and behavior of the dystrophinopathic myocardial damage in female carriers of a gene defect at the Xp21 locus of the X chromosome that causes Duchenne and Becker muscular dystrophies (DMD and BMD). DESIGN: Cohort study from April 1, 1985, to April 30, 1995, with cardiologic follow-up performed yearly for a minimum of 3 to a maximum of 10 years. SETTING: Counseling center for genetic muscular disorders. PATIENTS: A total of 197 women and girls aged 5 to 60 years ascertained to be carriers of the DMD (n = 152) or BMD (n = 45) gene. MAIN OUTCOME MEASURES: Cardiac status at yearly examinations as determined by 12-lead electrocardiogram (ECG), 24-hour ambulatory ECG, M-mode and 2-dimensional echocardiography, and carotid pulse tracing. Myocardial scintigram was performed on each individual at least twice during the study. Immunohistochemical analysis of dystrophin from myocardium and/or skeletal muscle biopsy was performed in 12 carriers. RESULTS: Preclinical or clinically evident myocardial involvement was found in 166 cases (84.3%), without significant differences in percentage and behavior between DMD and BMD carriers. Its occurrence increased significantly with age, from 54.5% (18 cases) in carriers aged between 5 and 16 years to 90.2% (148 cases) in carriers older than 16 years. Dystrophin anomalies were detected at the membrane level of the myocardial fibers in all endomyocardial biopsy specimens. CONCLUSIONS: Genetic anomalies can be considered the primary cause of myocardial damage in carriers of dystrophinopathic myopathies; myocardial damage shows the same behavior already described in DMD and BMD patients and progresses from preclinical to dilated cardiomyopathy, passing through stages of myocardial hypertrophy or dysrhythmias.

Adolescent↗
PubMed1996

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.

Mutations in any of the genes encoding the alpha, beta or gamma-sarcoglycan components of dystrophin-associated glycoproteins result in both sporadic and familial cases of either limb-girdle muscular dystrophy or severe childhood autosomal recessive muscular dystrophy. The collective name 'sarcoglycanopathies' has been proposed for these forms. We report the identification of a fourth member of the human sarcoglycan family. We named this novel cDNA delta-sarcoglycan. Its mRNA expression is abundant in striated and smooth muscles, with a main 8 kb transcript, encoding a predicted basic transmembrane glycoprotein of 290 amino acids. Antibodies specifically raised against this protein recognized a single band at 35 kDa on western blots of human and mouse muscle. Immunohistochemical staining revealed a unique sarcolemmal localization. FISH, radiation hybrid and YAC mapping concordantly linked the delta-sarcoglycan gene to 5q33, close to D5S487 and D5S1439. The gene spans at least 100 kb and is composed of eight exons. The identification of a novel sarcoglycan component modifies the current model of the dystrophin-glycoprotein complex.

Amino Acid Sequence↗
PubMed1996

Coping strategies and anxiety in Italian adolescents.

203 Italian adolescents completed an Italian modified version of the Amirkhan's Coping Strategy Indicator and the Italian version of the Spielberger, et al. State-Trait Anxiety Inventory. Three brief stories were presented to the subjects who were requested to put themselves in the protagonist's place and to indicate the extent to which they would use specific coping behaviors to deal with one of the three stressful events. Analysis of variance 3 x 2 (stressor by sex) showed effects due to the sex of the respondent on Seeking Social Support and to stressor on the subscales Problem Solving and Avoidance. A negative correlation was observed between scores on Trait Anxiety and Problem Solving and a positive one between scores on Trait Anxiety and Avoidance. Results seem to confirm the hypothesis that both situational antecedents and anxiety affect the choice of coping strategies. Further implications of finding were discussed.

Adolescent↗
PubMed1996

Rapid progression of HIV disease in children with cytomegalovirus DNAemia.

OBJECTIVE: In HIV-1-infected children, active cytomegalovirus (CMV) infection can cause severe clinical manifestations and accelerate progression of HIV disease. However, sufficient quantities of blood samples may not be available either for culture or detection of CMV DNA or antigens in white blood cells. The aim of this study was to investigate the diagnostic and prognostic significance of detecting CMV DNA in serum samples from HIV-1-infected children. DESIGN: Sera from 55 children (18 boys), aged 2-130 months (mean, 49.8 months), with perinatal HIV-1 infection and clinical manifestations attributable to CMV infection were tested for CMV DNA by nested polymerase chain reaction and for class-specific CMV antibodies [immunoglobulin (Ig) G, IgA, IgM] by enzyme-linked immunosorbent assay. The children were followed up for 2 days to 59 months (mean, 25.5 months). RESULTS: CMV infection was demonstrated in 43 children (74.5%), 18 of whom (42%) were positive for CMV DNA. During the follow-up, 13 children with CMV infection (30.2%) died, including 11 (84.6%) who were positive for CMV DNAemia just before death. Of these children, seven died soon after hospitalization without antiviral treatment, and four died despite therapy with ganciclovir or foscarnet. Post-mortem CMV inclusions were revealed in seven out of eight children who underwent autopsy. The two other children who died also had progressive CMV disease and received ganciclovir until death. In comparison with CMV-seropositive children without CMV DNAemia, children with CMV DNAemia showed significantly shorter mean survival time (42.5 versus 60 months; P < 0.01), lower final CD4+ T-cell count (218 versus 499 x 10(6)/1; P < 0.01) and higher mortality rate (P < 0.0001). CONCLUSIONS: The detection of CMV DNA in serum is of value for diagnosis of active CMV infection in HIV-1-positive children, and CMV DNAemia is a good prognostic indicator of severe outcome of HIV disease.

Antibodies, Viral↗
PubMed1996

[Prions and infantile pathology].

The authors briefly review the problem of prions pathology (with particular emphasis on children). The outstanding interest of the subject justifies this review.

Animals↗
PubMed1996

[Psychiatry and dermatologic neoplasms: results of an experimental study].

Psycho-oncology has developed during the past decades in the area of medical oncology directly involved in the study of the psychological aspects of cancer. In this study the authors focused in particular on the psychopathological complications of dermatological cancer, the discovery of a possible history of psychiatric disorders prior to the diagnosis of the tumour, the predictive value of the latter concerning further psychiatric complications during cancer, and lastly the possible correlations between stress and the onset of cancer and between religious belief and adaptive strategies. A total of 30 patients suffering from dermatological neoplasia were examined within the setting of a Psychiatric Liaison Service. HDRS and STAI X-1 and 2 were used as psychodiagnostic aids to evaluate the level of depression and anxiety, together with an interview for the clinical evaluation of the patient ad possible life events of particular importance. It was found that 10% of patients conformed to the criteria for the diagnosis of dysthymia and 10% for adaption disorders, and that there was also a high rate of pathological values for status anxiety (66%). These results show that this type of disease is particularly subject to risk for psychiatric complications.

Female↗
PubMed1996

Prion-induced neuro-psychiatric syndromes.

Although further research is needed, the most recent thinking is that prions are tiny protein particles without DNA or RNA which have the ability to infect humans or animals. Prions cause slow infections which are fatal, experimentally transmissible, evoke no immune resistance from the infected host and are more resistant to disinfectants and chemical or physical agents than the other micro-organisms that proliferate in the infected host. Update no evidence of possible passage by mouth from cows to men with consequent illness.

Animals↗
PubMed1995

Cytomegalovirus-associated stage 4S neuroblastoma relapsed stage 4.

Neuroblastoma is one of the most frequent solid tumors in childhood, rarely recurrent after five years from diagnosis. Cytomegalovirus (CMV), a major pathogen causing congenital birth defects and severe opportunistic diseases, has been shown to have teratogenic, immunodepressive and oncogenic properties. The case of a girl with stage 4S neuroblastoma diagnosed at three months and relapsed as stage 4 five years later is reported. In both circumstances, active CMV infection was revealed by positive CMV-specific IgM and IgA antibodies, CMV-DNAemia and CMV culture. At three months, the patient presented with subcutaneous nodules, hepatosplenomegaly and increased aminotransferase levels, and the opsolonus-myoclonus syndrome. Mental retardation developed later on. At 5 years, relapsed neuroblastoma was preceded by a mononucleosis-like syndrome concomitant with active CMV infection and decreased levels of immune cells and natural killer activity. Clinical, virologic, and immunologic findings suggest an immune-mediated pathogenic role for CMV in this tumor.

Abdominal Neoplasms↗
PubMed1995

Evaluation of the cardiomyopathy in Becker muscular dystrophy.

To evaluate the features and the course of cardiomyopathy in Becker muscular dystrophy, 68 patients--identified by clinical assessment and by reduced dystrophin labeling and/or DNA analysis--were followed in the years 1976-1993, for periods ranging from 3 to 18 years (mean 8). Patients periodically underwent clinical, electrocardiographic, echocardiographic, nuclear, and radiological assessments. Preclinical cardiac involvement was found in 67.4% of patients under 16 years of age, decreasing to 30% in patients older than 40. Clinically evident cardiomyopathy was found in 15% of patients under 16 years of age, increasing to 73% in patients older than 40. A real, dilated cardiomyopathy is the most frequent type of myocardial involvement after the age of 20. Results show that the severity of cardiac involvement can be unrelated to the severity of skeletal muscle damage and confirm that cardiac dysfunction is a primary feature of Becker muscular dystrophy.

Adolescent↗
PubMed1995

Detection of IgM antibodies to human herpesvirus 6 in Romanian children with nonprogressive human immunodeficiency virus disease.

The prevalence of human herpesvirus 6 (HHV-6) infection and the course of human immunodeficiency virus (HIV) disease were investigated in 25 Romanian children with nosocomial HIV-1 infection. HHV-6 IgM and IgG antibodies were detected by enzyme immunoassay (EIA) and immunofluorescence assay (IFA) at the beginning of the study and after 18 months, concomitantly with collection of virologic, immunologic and clinical data. The initial HHV-6 seropositivity was 92% by EIA and 76% by IFA, whereas final testing showed 100% positivity by EIA and 84% by IFA. Positive HHV-6 IgM antibodies were detected in 10 children (40%) by EIA and IFA. Of these 9 children (36%) by EIA and 6 (24%) by IFA had both initial and final IgM antibodies. Children with HHV-6 IgM antibodies had a higher prevalence of pneumonitis than those without (100% vs. 53.3%; P < 0.01). In addition they more frequently showed positive p24 antigen detection (67% vs. 40%) and positive HIV-1 culture (80% vs. 69%). Nevertheless the patients with HHV-6 IgM antibodies showed a slight increase in the final mean CD4+ T cell count (from 1.140 to 1.185 x 10(6)/liter), whereas those with HHV-6 IgG alone showed a statistically significant (P = 0.01) decrease (from 1.395 to 968 CD4+ T-cells x 10(6)/liter). Therefore current or recent HHV-6 infection, as revealed by positive HHV-6 IgM antibodies, appeared to be associated with the development of pneumonitis but not with progression of HIV disease. A possible competitive inhibition of HIV-1 by HHV-6 or a stimulating effect of HHV-6 on CD4+ T-cell production may be suggested.

AIDS-Related Opportunistic Infections↗
PubMed1994

Active or recent parvovirus B19 infection in children with Kawasaki disease.

Because parvovirus B19 occasionally causes some of the features typical of Kawasaki disease, we investigated B19 involvement in 15 children with Kawasaki disease. Active or recent B19 infection, as shown by B19-DNAaemia, positive B19-specific IgM antibodies, or both, was diagnosed in 10 patients (67%). A high frequency of all major criteria for diagnosis of Kawasaki disease (60%), anaemia (60%), coronary aneurysms (30%), and arthropathy (30%) was found in children with B19-associated Kawasaki disease. Thus B19 may have a pathogenic role in the development of Kawasaki disease, with other predisposing factors.

Antibodies, Viral↗
PubMed1994

Mutation of dystrophin gene and cardiomyopathy.

The correlations between the type of gene mutation and the cardiac clinical picture were examined in 284 patients with dystrophinopathy (200 Duchenne and 84 Becker). The subjects with normal heart showed deletions including exons 48-49 in 21.4% DMD and in 25% BMD, and other deletions in 35.7% DMD and 25% BMD; vice versa the cases with severe cardiac involvement showed deletions including 48-49 in 38.8% DMD and 37.5% BMD and other deletions in 32.9% DMD and 20% BMD. The age of death was 18 years in DMD patients with deletions including 48-49 whereas the age was about 22 in the cases with other deletions. The differences were statistically significant.

Adolescent↗
PubMed1994

Ganciclovir therapy for symptomatic congenital cytomegalovirus infection in infants: a two-regimen experience.

The efficacy of two regimens of ganciclovir therapy was evaluated in 12 infants with symptomatic congenital cytomegalovirus (CMV) infection. Virologic investigations included culture from urine, saliva, and cerebrospinal fluid, detection of CMV DNA by polymerase chain reaction, and detection of CMV class-specific antibodies (IgG, IgA, IgM) by enzyme immunoassays. Six infants were given ganciclovir, 5 mg/kg twice daily for 2 weeks (group 1); the other six infants were given 7.5 mg/kg twice daily for 2 weeks and 10 mg/kg three times weekly for 3 months (group 2). In group 1 the CMV cultures of specimens from three infants became sterile; two of these infants also had negative results on CMV DNA studies; results of culture and CMV DNA study were still positive after ganciclovir therapy in the remaining three infants. Subsequently, normal outcome was observed in only two patients. In group 2, all infants had negative CMV-culture and CMV DNA results; clinical improvement was evident in five infants, one of whom had later development of mild psychomotor retardation. In another infant, severe psychomotor retardation and hearing loss developed after transient improvement developed. These preliminary data indicate that a ganciclovir regimen including a higher dose and more prolonged therapy might be more effective in infants with symptomatic congenital CMV infection.

Cytomegalovirus↗