[Giant platelet syndrome].
Explore the source record for details and available documents.
Bernard-Soulier Syndrome↗
Biomedical subjects
M Perkkiö
Publications and source records attributed to M Perkkiö.
A child with esthesioneuroblastoma with metastases to the spinal cord and the bone marrow.
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.
Bone Marrow Diseases↗
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion.
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.
Child, Preschool↗
Simultaneous hepatoblastoma in identical male twins.
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.
Carcinoma, Hepatocellular↗
Cell differentiation in sacrococcygeal teratomas. An immunohistochemical and follow-up study.
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.
Actins↗
A randomised comparison of ceftazidime and piperacillin, both in combination with flucloxacillin for treatment of febrile episodes in neutropenic children. Finnish Three-Centre Study.
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.
Adolescent↗
Four pairs of siblings with acute leukemia during 1966-1985 in the Nordic countries: indication of an elevated familial risk?
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.
Child↗
Growth failure and growth hormone deficiency in children after bone marrow transplantation for 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.
Adolescent↗
Late relapses after treatment for acute lymphoblastic leukemia in childhood: a population-based study from the Nordic countries.
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.
Adolescent↗
Improved prognosis for children with stage IV neuroblastoma: high-dose melphalan and autologous unpurged marrow transplantation after aggressive surgery and short chemotherapy with cisplatinum and etoposide.
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.
Antineoplastic Agents↗
Kidneys very large at diagnosis are associated with poor prognosis in children with acute lymphoblastic leukemia.
Explore the source record for details and available documents.
Child↗
Prognostic significance of primary bone changes in children with acute lymphoblastic leukemia.
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.
Bone and Bones↗
Fatal unresponsive villous atrophy of the jejunum, connective tissue disease and diabetes in a girl with intestinal epithelial cell antibody.
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.
Antibodies↗
Chromosome abnormalities in 16 Finnish patients with Burkitt's lymphoma or L3 acute lymphocytic leukemia.
Eleven patients with Burkitt's lymphoma (BL), i.e., small noncleaved non-Hodgkin's lymphoma, and 5 patients with Burkitt-type acute lymphocytic leukemia (ALL-L3) were selected for chromosome study. Two of the 16 patients had no B-cell markers, but the erythrocyte marker--glycophorin A--was present on the surface of the leukemic blasts. The critical breakpoint at 8q24 was detected in 14 of the 16 patients, whereas this aberration was not detected in any of the 134 patients belonging to other subgroups of non-Hodgkin's lymphoma or ALL that we studied during the same period. In addition to the t(8;14)(q24;q32), the following translocations with the breakpoint at 8q24 were seen: t(2;8)(p11;q24), t(8;11)(q24;q13) in BL, and t(2;8;14)(p11 or p12;q24;q32) in ALL. Additional aberrations seen more than once were trisomy #7 and abnormalities in chromosomes #1, #11, and #13.
Adolescent↗
Jejunal mucosa after leukemia treatment in children. Increase of crypt mitotic activity, decrease of intraepithelial lymphocytes and IgA-cells.
Nine children with acute lymphoblastic leukemia in remission were studied at the end of their three years' maintenance therapy. In the jejunal biopsy specimens significantly fewer intraepithelial lymphocytes and IgA-cells were observed in the patients than in the controls. However, the crypts were deeper than normal, and the mitotic activity of the crypt cells was markedly increased in all of the patients. Three children presented with decreased epithelial disaccharidase activities. One had abnormal D-xylose test and two abnormal lactose tolerance test. Although weight gain did not differ from the normal, height increase was retarded in all but one of the patients. We conclude that leukemia treatment leads to changes in the intestinal mucosa that might in part contribute to impairment of growth in the patients and to suppression of mucosal immunity in their jejunum.
Adolescent↗
Orbital granulocytic sarcoma as a presenting sign in acute myelogenous leukemia.
A 3-year-old boy presented with a marked right exophthalmos of a few days duration. This was due to a retrobulbar granulocytic sarcoma that was subtotally removed at a lateral orbitotomy. Subsequent studies revealed acute myelogenous leukemia (AML) of FAB-type M2. The orbital tumor disappeared totally after local irradiation and cytostatic treatment. Another granulocytic sarcoma developed 3 months later in the left orbit. It disappeared also during repeated cytostatic induction therapy although only transient hematologic remission was achieved. After 1 month a recurrence of the tumor in the left orbit was noted. The disease progressed without response to treatment and the patient died 11 months after diagnosis.
Child, Preschool↗
[Bone marrow transplantation in leukemia and aplastic anemia: experience with 40 patients].
Explore the source record for details and available documents.
Adolescent↗
IgA antigliadin antibodies: a marker of mucosal damage in childhood coeliac disease.
Antigliadin antibodies in serum samples of 31 children with coeliac disease were measured by an enzyme-linked immunosorbent technique. In young patients (less than 2 years) tested before gluten withdrawal IgA antigliadin antibody levels were invariably above the levels of 36 controls. The titres fell rapidly when gluten was eliminated from the diet and rose on its reintroduction. The titres were not always greater than the control level in older untreated patients. IgA antigliadin antibodies seem to be a good marker of the immune reaction in the jejunum triggered by gluten. In 2 IgA-deficient patients gluten challenge caused an increase in IgM antigliadin antibodies, and at the same time the number of IgM-containing cells increased in the jejunal mucosa. Rising IgG antigliadin antibody levels after gluten elimination were seen in 6 patients, 5 of whom had very low complement C3 levels before gluten elimination.
Age Factors↗