PubMed HealthSearch

Biomedical subjects

R Mariani

Publications and source records attributed to R Mariani.

At least 19 recordsLinked to original sources

Methylated catecholamine metabolites for diagnosis of neuroblastoma.

Assays of urinary catecholamines and their metabolites (HVA, VMA, dopamine) permit biochemical diagnosis of neuroblastoma in approximately 80% of patients. The urinary methylated catecholamine metabolites normetanephrine (NMN), metanephrine (MN), and 3-methoxytyramine (3-MT) were analyzed in 18 patients with neuroblastoma and compared with reference values established for 69 healthy pediatric controls. All 18 neuroblastoma patients had raised urinary excretion of at least one of the three commonly assayed metabolites (HVA, VMA, dopamine). Similarly, raised urinary excretion of a methylated metabolite was noted in all but one of the neuroblastoma patients. The 3-MT level was pathologic in 16 of the 18 patients (89%). In this series, 3-MT assay sensitivity was sufficient to warrant trials on a larger population including comparison with patients considered nonsecretors by routine assay procedures.

Adolescent

[Post-traumatic lung pneumatocele. A case in an infant].

Traumatic lung pseudocyst is a lung injury due to closed chest trauma. The authors report one case in a 20 month-old boy. This cavitary lesion is underestimated since associated lesions often mask the pneumatocele. Its frequency is higher in children and young adults. Diagnosis can be assessed early when chest film shows the characteristic cavitary lesion. Computed tomography may be helpful in the recognition of paramediastinal traumatic lung pseudocyst. Since the lung pseudocyst usually involves, no aggressive therapy is justified.

Humans

[Congenital toxoplasmosis in the Alpes-Maritimes region. Apropos of 26 cases observed between 1984 and 1990].

Twenty-six cases of congenital toxoplasmosis observed in the department of Alpes Maritimes (Chief Town: Nice) between 1984 and 1990 are reported. All affected children were treated by pyrimethamine and sulfonamide as soon as the diagnosis was established. None of them exhibited serious sequellae. In most cases (58%) there were no clinical manifestations in agreement with other reports. Benign manifestations were observed in 10 cases (38%): 4 chorioretinitis; 4 intracranial calcifications: 1 febrile seizure; 7 hyperproteinorachias: 3 isolated and 4 associated with other signs. In 3 cases, secondary lesions appeared during the treatment period. This confirms the need for active therapeutic research in order to decrease the risk of late ocular complication which is the major problem of the disease.

Child

[Acute congenital monoblastic leukemia and 9;11 translocation: a case].

Acute leukemia in the newborn child is a rare event. The clinical and biological characteristics differ from those normally encountered in the older child. Tumoral syndrome and extra-medullar locations are frequently described in the literature. Many authors have noted the difficulty of diagnosis due to the immaturity of the malignant proliferation. While it is generally agreed that therapeutic abstention is justified in the leukemoid reaction in Down's syndrome, the choice is debatable in the phenotypically intact newborn. For this reason, blastic karyotype analysis is essential and may provide guidelines when considering treatment. We report on a case history of acute monoblastic leukemia with translocation 9;11 that was diagnosed at birth in a normal newborn infant. The juxtaposition of c-ets 1 protooncogene and the beta-interferon gene has been associated with this kind of cytogenetic disease and probably constitutes a model for human leukemogenesis.

Antineoplastic Combined Chemotherapy Protocols

[Sharp syndrome in an infant: a case report].

We report on a case of Sharp syndrome which was diagnosed late in on 11-year old boy. After 5 years of corticosteroid treatment, he presented with myopericardic aggravation, glomerular disease, and seizures with delirium, which responded to high-dose steroid therapy with early switch using synthetic antimalarial drugs. Six years later the results are still satisfactory.

Child

[Value of MRI in various forms of idiopathic growth hormone deficiency].

Magnetic resonance imaging (MRI) of the sellar and juxta sellar area was performed in 40 children with idiopathic hypopituitarism. MRI was normal in the 17 patients with partial growth hormone (GH) deficiency and in the 5 patients with GH neurosecretory dysfunction. Among the 18 patients with complete GH deficiency, the 10 with pituitary stalk transection presented more often with perinatal abnormalities, had the most severe GH deficiencies and more frequently multiple hormone deficiencies, in particular TSH deficiency. Pituitary gland size studies showed that the small size of the residual glandular tissue was responsible for these particularities. If MRI is of no great interest for functional GH deficiency, in half of the primary complete GH deficiencies, it enables to visualize a pituitary stalk transection with regeneration of neurohypophysis.

Adolescent

[Inhaled corticosteroids in the treatment of childhood asthma].

During the last fifteen years, inhaled corticosteroids were increasingly used for prophylaxis in childhood asthma. The development of inhaled corticosteroids with a high ratio of topical vs systemic potency, now makes possible their use in large doses which are needed to control the most severe forms of the disease, in order to avoid long term oral corticosteroid treatment for these patients. The efficacy of inhaled corticosteroids depends on an optimal pulmonary deposition of the drug which is obtained with children by inhaling the drug via a large volume spacer. Beyond their beneficial effects on the clinical condition of the patients and on pulmonary function, inhaled corticosteroids should improve the long term prognosis of asthma, by reducing chronic inflammation in the airways and the associated bronchial hyperreactivity. At usual dosages, inhaled corticosteroids are free of harmful side effects. However, caution and close observation of adrenal function and growth development are required when prescribing inhaled corticosteroids at high dosages for a long period. Nevertheless, inhaled corticosteroids present very few serious side effects compared with those induced by long term oral corticosteroid treatment.

Administration, Inhalation

[Additional contribution of high amplification electrocardiography in the follow-up of children with muscular dystrophy].

Fifteen children and adolescents with muscular dystrophy underwent investigation by Doppler echocardiography and high amplification electrocardiography to evaluate the quality of left ventricular function. High amplification ECG showed minor intra-atrial conduction defects in 3 cases and abnormal late micro potentials without arrhythmogenic late potentials in 3 other cases. Significant abnormalities were observed in 40% of children examined. Doppler echocardiography showed relative conservation of systolic left ventricular function but a decrease in indices of contractility was observed in 46% of cases, especially in patients with Duchenne muscular dystrophy. Abnormalities of left ventricular distensibility were observed earlier and were more common (53% of cases). A significant decrease in cardiac output was found in 50% of patients, especially among the older and more severely affected children irrespective of the type of muscular dystrophy. These two investigations provide complementary information for the evaluation of left ventricular function of children with muscular dystrophy and they are proposed routinely for the follow-up of these patients.

Adolescent

[The variability of arterial pressure measured by oscillometric methods in premature newborn infants].

The variability of blood pressure measured by oscillometry and the validity of this technique were studied in premature infants. Thirty premature babies whose postnatal age was six days or more had their blood pressure measured 11 times over a twenty-minute period for three consecutive days. Movements were found to have a very substantial influence on results that could not be reliably compared with values obtained invasively. No consistent pattern of variations of oscillometric results obtained during the eleven measurements of use for recommending a specific measurement time was found. Diastolic blood pressure fell gradually over the three-day study period. The most reliable of the eleven daily values was the lowest value for which good correlations were found between the three study days; this lowest value was not influenced by neonatal or postnatal factors.

Analysis of Variance

[Modes of contamination in children].

The various ways in which infants may be contaminated with HIV are described. Transmission by blood perfusion persists in only some countries where HIV detection in blood products is not performed and sterilization is doubtful. Transplacental contamination is well documented by the finding of HIV in various foetal tissues, amniotic fluid, placenta and foetal blood; it seems to be predominant. Transmission during delivery and breast-feeding plays a lesser role, but it cannot be excluded. Horizontal transmission is extremely rare. The frequency of vertical transmission varies from one series to another, but the most often quoted figure is approximately 30 p. 100. An Atlanta C.D.C. stage III or IV and a low percentage of T4 lymphocytes are thought to facilitate the mother-to-foetus transmission. Many elements are still imperfectly known; their elucidation requires further studies on large series of subjects.

Breast Feeding

[Neonatal nosocomial infection at a pediatric resuscitation and intensive care unit].

During 1989, a nosocomial infection rate of 3.15% was observed among the 412 neonates hospitalised for more than 2 days in the paediatric intensive care unit and a special care baby unit in the medical centre of Nice. Certain factors only partially explain the above, and it is probable that the non-invasive methods of monitoring and care and the experienced nursing staff contribute to a great extent to this low frequency of infection.

Cross Infection

[Broncho-alveolar lavage in HIV-1 seropositive children].

Sixteen bronchoalveolar lavages (BAL) were performed in 15 children with HIV1 seropositivity, 12 of them being infected by HIV1. BAL was performed during episodes of acute pneumonitis with respiratory distress (group I: three cases) or without severity (group II: five cases), or in the presence of asymptomatic radiological pulmonary abnormalities (group III: seven cases). A specific diagnosis of infection was obtained in five cases of acute pneumonitis and 12 micro-organisms were identified by BAL: three cytomegaloviruses, three respiratory syncytial viruses, two Pneumocytis carinii, one Haemophilus influenzae, one Herpes simplex virus type 1, one Escherichia coli and one group A streptococcus. In three cases two micro-organisms were simultaneously identified. Cytological examination showed a high proportion of polymorphonuclear leukocytes in cases of acute pneumonitis (group II) and alveolar lymphocytosis in clinically asymptomatic children with radiological pulmonary abnormalities (group III). BAL appears to be a reliable tool for the investigation of pulmonary infections in children with HIV1 seropositivity. In addition it has the advantage of revealing latent cytological abnormalities in these patients.

Bronchoalveolar Lavage Fluid

[Value of monoclonal antibody study of lymphocyte subpopulations in newborn infants of HIV1 seropositive mothers].

The outcome of infants born to HIV1 seropositive (HIV1+) mothers is still uncertain is spite of current progress in techniques for viral detection. Using the almost elective tropism of HIV1 virus for CD4 lymphocytes and the central role of these cells in the immune regulation, we studied blood lymphocyte populations with 7 monoclonal antibodies during the first month of life in 28 newborns of HIV1 seropositive mothers. Our data are compared to an age-matched population of 35 control infants. According to our results, the coexistence of a low CD8 lymphocyte percentage together with a high CD4/CD8 ratio seems to be correlated with an unfavourable outcome.

Antibodies, Monoclonal