Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors.

For many years the precise genetic etiology of the majority of Wilms' tumors has remained unexplained. Recently, the WTX gene, mapped to chromosome Xq11.1, has been reported to be lost or mutated in approximately one-third of Wilms' tumors. Moreover, in female cases, the somatically inactivated alleles were found to invariantly derive from the active chromosome X. Consequently, WTX has been proposed as a 'one-hit' tumor suppressor gene. To provide further insights on the contribution of WTX to the development of the disease, we have examined 102 Wilms' tumors, obtained from 43 male and 57 female patients. Quantitative PCR analyses detected WTX deletions in 5 of 45 (11%) tumors from males, whereas loss of heterozygosity at WTX-linked microsatellites was observed in 9 tumors from 50 informative females (19%). However, in the latter group, using a combination of HUMARA assay and bisulfite-modified DNA sequencing, we found that the deletion affected the active chromosome X only in two cases (4%). Sequence analyses detected an inactivating somatic mutation of WTX in a single tumor, in which a strongly reduced expression of the mutant allele respect to the wild-type allele was observed, a finding not consistent with its localization on the active chromosome X. Overall, a functional somatic nullizygosity of the WTX gene was ascertained only in seven of the Wilms' tumors included in the study (approximately 7%). Our findings indicate that previously reported estimates on the proportion of Wilms' tumors due to WTX alterations should be reconsidered.

Broviac catheter-related bacteraemias due to unusual pathogens in children with cancer: case reports with literature review.

Among 102 episodes of intravenous catheter related bacteraemias documented between January 1989 and July 1996 in children receiving antineoplastic chemotherapy or bone marrow transplantation at G. Gaslini Children's Hospital, Genoa, Italy, were identified seven episodes due to unusual pathogens: Bacillus circulans, Bacillus licheniformis, Brevibacterium casei, Flavimonas oryzihabitans, Porphyromonas asaccharolytica, Comamonas acidovorans and Agrobacterium radiobacter. Susceptibility to different antibiotics of all strains are reported. In all cases catheter removal was required for culture negativization. All episodes were diagnosed in absence of granulocytopenia.

Multiple inflammatory fibrosarcoma of the abdominal cavity in a child.

Inflammatory fibrosarcoma is a rare condition in childhood. In the abdominal location, its behaviour is often aggressive and potentially metastasizing. We report a case of a 3-year-old female with abdominal inflammatory fibrosarcoma who relapsed after 1 month from radical surgery. Chemotherapy was ineffective, and we registered a brief stabilisation of disease only with alpha-IFN. Our case confirms the potential malignancy of this tumour and its resistance to treatment. It is noteworthy that the therapy with alpha-IFN improved the quality of life in this child for 4 months.

Is chemotherapy effective therapy for intracranial immature teratoma? A case report.

BACKGROUND: Intracranial immature teratomas (IT) are very rare germ cell tumors (GCT). The value of chemotherapy in their treatment has not been defined. METHODS: A child was referred to our hospital for consultation regarding the need for adjuvant treatment after being operated upon twice (at the age of 7 months and 11 months) for a large supratentorial intracerebral mass. The patient was staged and the tumor specimens reviewed. Histology was that of an IT with no other type of malignant GCT. RESULTS: Considering the age, lack of any sign of residual tumor by computed tomography and magnetic resonance imaging, absence of tumor cells in the spinal fluid or elevation of tumor markers, and based on the reported poor response of such tumors to chemotherapy, a policy of "wait and see" was adopted. One month later, the child presented with a rapidly growing intracranial mass invading the cranial bones on the left side. Chemotherapy consisting of 4 cycles of carboplatin, etoposide, and bleomycin followed by another 4 cycles of ifosfamide, vincristine, and dactinomycin alternating with carboplatin and etoposide, achieved complete remission, and 24 months after discontinuation of treatment, the patient continued free of disease. CONCLUSIONS: This report indicates that chemotherapy may be effective therapy for intracranial IT. In our patient, chemotherapy modified the natural aggressive behavior of this disease and achieved a persistent, complete remission. Given the minimal information available in the literature concerning the response of IT to chemotherapy, this case addresses the issue of whether chemotherapy alone is adequate to treat intracranial germ cell tumors.

Changing pattern of pathogens causing broviac catheter-related bacteraemias in children with cancer.

The incidence of pathogens causing catheter-related bacteraemias in children undergoing antineoplastic chemotherapy with or without bone marrow transplantation at G. Gaslini Children's Hospital, Genoa, Italy, was analysed by comparing data from a retrospective study (1985-1988) with that obtained from a prospective one (1989-1992). In both periods catheter-related bacteraemias one (1989-1992). In both periods catheter-related bacteraemias were more frequent in non-neutropenic than in neutropenic patients. Among catheter-unrelated bacteraemias the pattern of infecting pathogens remained unchanged between the study periods, with Gram-positive bacteria remaining the predominant pathogens. Conversely, among catheter-related bacteraemias, the incidence of Gram-negative bacilli increased significantly from 3 to 38%, and that of Gram-positive bacteria fell from 63 to 32% (P = 0.001, chi 2 test for heterogeneity.

Neuroblastoma IV-S in a patient with bilateral microphthalmia.

Neuroblastoma, a tumor of post-ganglionic sympathetic neurons, may be associated with a variety of genetic defects and congenital malformations (1). We report a case of neuroblastoma (NB) stage IV-S (2) in an infant with bilateral microphthalmia and other ocular malformations.

[Respiratory physio-kinesitherapy in cystic fibrosis: the parents' viewpoint]. / La fisiochinesiterapia respiratoria nella fibrosi cistica vista dai genitori.

The aim of this study was to evaluate the problems found in performing chest physiotherapy (PKT) by patients with Cystic Fibrosis (CF) and by their families. The research has been based upon processing 389 questionnaires (46 items) that were compiled by the families. Thirteen CF centers all over the nation have participated in this study. Patients' mean age was 7.4 years (range 2 months to 14 years). Data about the socio-economic status and illness severity were available for every patient. Many graphs (line connects points with a line = n. 8; bar charts = n. 17; pie charts = n. 13) show the results and their statistical processing. Our purpose was to solve the following problems: 1) What is the extent of the compliance? 2) Who perform, or should perform, PKT in the family environment? 3) What is the kind and extent of the help request? 4) What are the mistakes made in executing PKT? 5) What is the usefulness of precursors and aerosol therapy? 6) What is the link between physical activity and PKT? 7) What are the main difficulties in performing PKT? 8) How effective is PKT? 9) What is the extent of the parents' faith in their capabilities? 10) Are there any prejudices against PKT? Three major findings emerge from this study: 1) the compliance appeared good; 2) the average family understood the meaning of PKT correctly and 3) PKT is usually executed properly. As for negative results are concerned, it is to be noted that the burden of performing PKT is usually up to the mother. This finding is linked both to the socio-economics status of the family and to the severity of the illness. On the other hand, a home PKT service is only asked in very extreme situations such as sudden worsening of the patient's illness. The difficulties met in performing PKT range from the patient's refusal to logistical and organization problems, which are correlated with the socio-economic status of the family. The relationship between PKT and sport is understood well and there is a high percentage of patients doing regular physical activity, even if it is often hindered by the severity of the disease. In conclusion, although there are many problems, there are also many methods to use in order to improve the acceptance and the effectiveness of the PKT.

Evaluation of ceftazidime in the treatment of 80 infectious episodes in compromised children.

The efficacy of ceftazidime in the treatment of infections in compromised children was evaluated in 80 such episodes occurring in 64 patients with various underlying diseases. Among the patients treated, 9 were newborns with severe neonatal distress, 21 were children with cancer and neutropenia, 8 were surgical patients, 22 had cystic fibrosis and 4 were suffering from meningitis. The following types of infections were treated: 19 bacteriologically documented and 8 possible septicemias (the latter only in newborns and neutropenic cancer patients); 2 severe upper respiratory tract infections in cancer patients; 8 soft tissue or skin infections; 1 cholangitis; 1 pneumonia; 1 osteomyelitis; 1 mediastinitis; 35 infectious exacerbations of underlying pulmonary disease in cystic fibrosis patients; and 4 meningitides. In almost all cases ceftazidime was administered intravenously in combination with an aminoglycoside. In 2 cases it was also given intrathecally or intraventricularly. Bacteriological documentation was achieved in 70 out of 80 episodes. A successful outcome was obtained in 79% of the cases with slight and statistically nonsignificant differences between groups of patients with different etiological patterns in terms of prevalence of gram-positive microorganisms. Tolerance of the treatment was uniformly good, only one patient showing a mild, transient transaminase elevation.