Biomedical subjects
Publications and source records attributed to M Perkkiö.
Esthesioneuroblastoma is a rare tumor in children, and the correct diagnosis may be difficult, as is demonstrated in this case report. A 5-year-old girl was diagnosed with this tumor, which was incurable and behaved like a neuroblastoma, sending metastases to the bone marrow and invading the cranium and the spinal canal.
Mitochondrial DNA (mtDNA) deletion is associated with a variety of clinical entities. In addition to progressive external ophthalmoplegia and Kearns-Sayre syndrome, mtDNA deletions have been demonstrated in Pearson's syndrome. We report an mtDNA deletion in an infant with a variant of Pearson's syndrome. Not only does she have congenital anemia, severe tubulopathy, and exocrine pancreas insufficiency, but she also has diabetes and cerebral atrophy. However, there are no signs of gut or liver involvement. Bone marrow improved while new tissues were involved, thus showing variability in progression of the disease. Decreased respiratory chain enzyme activities were demonstrated in muscle, and an mtDNA deletion was demonstrated in muscle, kidney, leukocytes, and fibroblasts.
Identical male twin infants who in 1987 presented with hepatoblastoma at the age of 7 months are reported. Twin B was admitted for investigation due to enlarged liver and spleen. He was found to have an inoperable hepatoblastoma of fetal type and was treated with chemotherapy and local irradiation. However, 7 months after the chemotherapy the tumor recurred. The asymptomatic twin A was examined because of the known familial cases, and he proved to have an identical tumor. He was successfully radically operated on and 2 years after the chemotherapy is still doing well with no evidence of tumor. As the mother and the maternal grandmother had polyps in the colon, quite probably the hepatoblastomas of the twins were associated with familial adenomatous polyposis.
The cell differentiation properties of thirty-four sacrococcygeal teratomas (SCT) and their five recurrences were immunohistochemically studied for the expression of different classes of intermediate filament proteins, muscle actin (MA) and S-100 protein. Out of thirty-nine tumors twenty-three were SCTs with only mature tissue elements, seven immature teratomas, five pure endodermal sinus tumors (EST) and four ESTs or embryonal carcinomas (EC) combined with mature components. Cytokeratin positivity was found in all epithelial structures and sometimes also in smooth muscle and primitive mesenchymal cells. An intense cytokeratin immunoreactivity was observed in EC and EST components. Muscle markers, desmin and MA were present in smooth and striated muscle cells. Focal desmin positivity was also found in some epithelial structures in two cases. Glial tissue positive for glial fibrillary acidic protein (GFAP) was found in twenty-eight out of thirty-nine tumors. Some cases with no apparent glial tissue in hematoxylin and eosin staining showed glial differentiation as proved by GFAP positivity. In six out of eleven choroid plexus-like tissues GFAP positive cells were observed. S-100 protein showed an intense distribution of immunoreactivity outside neural tissue, and focal positivity was observed in malignant epithelial structures. Immunohistochemical markers did not reveal any prognostic significance in teratomas. Our findings, however, showed some aberrant features of cell differentiation from normal mature tissue components but closely parallel to those found in normal fetal development.
111 febrile episodes in 98 neutropenic children were randomly treated with either ceftazidime (CAZ) 150 mg/kg/day or with piperacillin (PIP) 200 mg/kg/day, both combined with flucloxacillin (FLUC) 50 mg/kg/day. A total of 37/47 (79%) eligible episodes in the CAZ group and 41/53 (77%) in the PIP group were cured without needing to stop the initial therapy. The success without modification of the treatment in the verified septicaemias in the CAZ group was 8/18 (44%) and in the PIP group 5/18 (28%). Of the bacteriologically documented infections, 13/24 (54%) in the CAZ group and 11/24 (46%) in the PIP group were cured without modification of the therapy. Similarly, 17/31 (55%) of all the isolated bacteria in the CAZ group and 14/33 (42%) in the PIP group were eradicated with the initial therapy. Overall there were 13 deaths of which 4 in the CAZ group and 5 in the PIP group occurred during the infection. An increasing granulocyte count exceeding 0.25 x 10(9)/l at the end of the therapy was a good prognostic sign for the outcome of the infection. This study indicates that CAZ is as effective as PIP in the treatment of infections in neutropenic children.
Four pairs of siblings with acute leukemia in the Nordic countries during 1966-1985 are reported. The national data indicate that the risk of leukemia is 5.9 times greater in siblings of children with leukemia.
Eleven patients between the ages of 6 and 18 years who had been treated for acute leukemia were investigated for growth and growth hormone (GH) secretion. All had undergone bone marrow transplantation (BMT) between 0.7 and 5.1 (median 2.0) years previously. Preparation of patients for BMT had included high-dose cyclophosphamide and total body irradiation. In the eight patients at risk of growth failure, the relative height decreased 0.5-2.5 SD units (median 1.0) during the follow-up period. Eight patients secreted subnormal amounts of GH as studied by measuring spontaneous pulsatile GH secretion overnight. The maximal nocturnal GH peak varied between 3.3 and 28.3 micrograms/l (median 9.3). The mean nocturnal GH concentration varied from 1.2 to 8.3 micrograms/l (median 2.3) and depended on the length of the follow-up period. We conclude that deficient GH secretion is one reason for poor growth after BMT. A good growth response to GH substitution would support the role of GH deficiency in the observed growth retardation after BMT.
Seven late relapses of acute lymphoblastic leukemia occurring 5.5 to 12.3 years after cessation of therapy are reported in 986 patients who had discontinued treatment for leukemia acquired before the age of 15. The study covers patients from the five Nordic countries. Of the 434 patients with ALL who had passed 5 years of follow-up without recurrence, seven have subsequently relapsed so far; an estimated cumulative proportion of 6.9% within the 10 years. In addition, we report a girl 15.9 years old at diagnosis who relapsed 7.3 years after cessation of therapy. These findings confirm that "cure" of acute lymphoblastic leukemia treated in the 1970s cannot be considered definite, even 5 years after discontinuation of therapy.
A new therapeutic approach was adopted for 13 consecutive patients with stage IV neuroblastoma over 1 year of age admitted to the Children's Hospital, University of Helsinki, between October 1981 and August 1985. Treatment was based on induction, with aggressive, repeated early surgery and a relatively short course of chemotherapy with cisplatinum and etoposide, and on consolidation, with 140-180 mg/m2 of melphalan followed by autologous unpurged bone marrow. Induction therapy failed in only 2 of the 13 patients. One of the two was never autografted. So a total of 12 children underwent autologous marrow transplantations, 10 in primary and 1 in secondary remission, and one with residual disease. One patient died in septicemia during postmelphalan pancytopenia, and four patients relapsed 0.3-2.9 years after transplantation. Seven of the original 13 patients (54%) are well and living in continuous remission 2.3-4.1 (median 2.8) years after diagnosis.
Explore the source record for details and available documents.
In a period of 6.5 years, acute leukaemia was diagnosed in 140 children at our hospital: 137 children had long bone radiographs and 45 patients had bone lesions. Eleven of the 115 patients who had skull radiographs had osteolytic lesions and another four had wide sutures. No patients had bone changes at relapse or at cessation of 3 years' successful therapy. In acute lymphoblastic leukemia, the frequency of osseous lesions tended to be higher in patients in sub-groups with a more favourable prognosis. The duration of remission and survival times were higher in patients with "leukemic" long bones than in those without them (p less than 0.10 and less than 0.05, respectively). Changes in the skull could not be related to the outcome. We found no abnormalities in the bones of the eight patients with acute non-lymphoblastic leukemia.
The patient presented with a diabetes at the age of 3 years. At the age of 5 years she got persistent diarrhoea, lost weight and showed symptoms or arthritis and pericarditis. She was found to have total villous atrophy of the jejunum, which did not respond to dietary treatment, total parental nutrition, prednisone and cyclophosphamide medication. She had high titres of antinuclear antibodies and elevated serum IgG, but antibodies to DNA and to ribonuclearprotein were negative. A low titre of antibodies to human intestinal epithelial cells was found. The patient died of overwhelming fungal sepsis. We propose that the intestinal damage is part of the autoimmune disease. Careful study of jejunal biopsy specimens is helpful in distinguishing this type of patient from patients with coeliac disease.
Explore the source record for details and available documents.
We evaluated serum C-reactive protein (CRP) level and serum sodium concentration as early indicators of bacteremia in neutropenic children in two different series in 1983-1984 (49 bacteremias) and 1989-1990 (29 bacteremias). During the earlier period, the goal was to avoid unnecessary antimicrobial therapy. Currently a neutropenic patient is placed on antimicrobial therapy at the first sign of fever. In 1983-1984 the serum CRP concentration was elevated in every case, whereas in 1989-1990 it was normal in 34% cases (P = .0001). Hyponatremia was detected on admission in 84% and 52% cases (P = .0001). The urinary sodium concentration was elevated in most cases. The mortality in bacteremia was 22% in 1983-1984 compared to 3% (P = .025) in 1989-1990. Prompt initiation of empirical antimicrobial therapy in children with fever and neutropenia invalidates the use of hyponatremia and an elevated CRP level as early indicators of sepsis.