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Biomedical subjects

M Seip

Publications and source records attributed to M Seip.

At least 37 records · Page 2Linked to original sources
PubMed1989

Pyrimidine 5'-nucleotidase deficiency: improved detection of carriers.

The activities of pyrimidine 5'-nucleotidase (P5N) and the nucleotide pools in the erythrocytes from 19 members of a Dutch family with P5N deficiency were measured. In the erythrocytes of 5 (out of 6) apparent heterozygotes (based on P5N activities), an increased amount of UDP-N-acetylhexosamines was found. This increase was also found in the erythrocytes of 2 (out of 3) questionable heterozygotes (P5N activity below normal range, but not below normal mean--2 X SD) and not in the erythrocytes of family members with a normal P5N activity nor in erythrocytes from healthy donors. We conclude that analysis of the ribonucleotide patterns, in combination with determination of P5N activity, allows a more accurate diagnosis of heterozygosity for P5N.

5'-Nucleotidase↗
PubMed1989

A population-based study of children with standard risk acute lymphoblastic leukemia in the five Nordic countries. A follow-up of 230 patients.

Two hundred and thirty children with standard risk acute lymphoblastic leukemia (ALL) were diagnosed during a period of 3 years from July 1, 1981 to June 30, 1984 in the five Nordic countries. Criteria for standard risk ALL were age above 2.0 and below 10 years, WBC less than or equal to 20 x 10(9)/l, no evidence of CNS-involvement, mediastinal mass or T- or B-cell leukemia. The children were treated without prophylactic CNS irradiation, the majority (200 patients) according to two treatment programs. Follow-up of the entire group after a minimum of 30 months showed 64% of the children living in complete continuous remission with a probability of event-free survival of 0.60. The treatment results are not entirely satisfactory and intensification of therapy is required. A subgroup of patients with WBC between 10 and 20 x 10(9)/l and with adverse prognosis was identified, justifying a change of the present criteria for risk grouping.

Adolescent↗
PubMed1988

Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL).

We have fully characterized two alpha thalassaemia mutants that occur in Southeast Asia, - -THAI and - -FIL. Each mutant is due to a deletion that removes the entire zeta-alpha-globin gene complex. Localization of the 5' breakpoints described here, allows the identification of unique fragments that are specific for each of the two mutations. This information can be used to assess the frequency of these mutants in Southeast Asia and will be of value in prenatal testing for alpha thalassaemia in this area.

Child, Preschool↗
PubMed1988

Cyclosporine in steroid-resistant Diamond-Blackfan anaemia.

Two siblings with Diamond-Blackfan anaemia (DBA) and several congenital malformations were first treated with corticosteroids and blood transfusions. High steroid doses were needed, but in spite of this haemoglobin values periodically fell below acceptable levels. Cyclosporine was then given in addition to prednisolone. A slow increase in haemoglobin levels was observed over 2-3 months, and the prednisolone doses could be reduced gradually. Two short communications in the literature report similar experiences. Cyclosporine could be tried in DBA when reasonable corticosteroid doses do not give a satisfactory response. Since the main effect of cyclosporine is a specific inhibition of T-lymphocytes, the observed therapeutic effect in DBA indicates that T-lymphocytes may play an important role in the pathogenesis of this disease.

Anemia, Aplastic↗
PubMed1988

White cell count during maintenance chemotherapy for standard-risk childhood acute lymphoblastic leukemia: relation to relapse rate.

In a retrospective study of 84 children with standard-risk acute lymphoblastic leukemia diagnosed in 1981-1986, mean white cell count (mWBC) during maintenance chemotherapy (MT) was found to be significantly related to risk of hematological relapse, giving patients with the higher mWBC the poorer outcome. The only other significant relapse-related risk factor was white-cell count at diagnosis. mWBC was not significantly related to white cell count at diagnosis, sex, age, or dose of methotrexate or mercaptopurine. Patients with low mWBC also had relatively low white-cell counts after cessation of therapy when compared with patients with high mWBC.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1987

A population-based study of childhood acute lymphoblastic leukemia diagnosed from July 1981 through June 1985 in the five Nordic countries. Incidence, patient characteristics and treatment results.

Six hundred and fifty-six children with acute lymphoblastic leukemia (ALL) have been diagnosed in the five Nordic countries (Denmark, Finland, Iceland, Norway and Sweden) during the period from July 1981 through June 1985. Annual incidence of ALL was 3.6/100,000 children aged less than 15 years, with an incidence for males of 3.8 and for females of 3.4 respectively. Half of the children were younger than 5 years of age at diagnosis, with a peak incidence between 2-3 years of age. The leukemias were classified as Standard Risk (SR), Intermediate Risk (IR) or High Risk (HR) leukemia according to prognostic criteria at diagnosis. The remission rate was 95%. In children greater than or equal to 1 year of age with non-B-cell ALL at diagnosis, the Event-Free Survival (EFS) was 0.58; 0.65 for SR-children, 0.51 for IR-children and 0.52 for HR-children. WBC count at diagnosis was the most important prognostic factor and a WBC count of 11-20 X 10(9)/l was associated with the worst prognosis of all WBC values (EFS = 0.30), independent of other prognostic factors. Male sex was the second most important adverse prognostic criterion. The follow-up in January 1986 (observation time 6-54 months), showed that 442 of the 656 children (67%) were in complete continuous remission. The total results indicate a possibility to improve the prognosis for most of the risk groups of ALL with a more intensive treatment.

Adolescent↗
PubMed1986

Methotrexate infusions in poor prognosis acute lymphoblastic leukemia in children: I. The Norwegian methotrexate study in acute lymphoblastic leukemia in childhood, August 1975-December 1980.

One hundred fifty-three children with ALL were diagnosed in Norway in the period August 1975-December 1980. One hundred thirty-two of them received 3 infusions of methotrexate as consolidation therapy combined with methotrexate intrathecally as CNS prophylaxis. Eleven (44%) of the total 25 methotrexate cases with WBC above 50 X 10(9)/L were in CCR after 4 1/2-10 years. Two more cases had discontinued therapy, while in second remission. The event-free survival of all diagnosed 32 children in Norway with WBC above 50 X 10(9)/L was 37%. Seven infants below the age of 1 year are included in the 32 cases.

Adolescent↗
PubMed1985

Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy.

Because cardiomegaly has been observed in lipodystrophic patients we studied cardiac morphology and function with one- and two-dimensional echocardiography in addition to general cardiologic examination in a series of seven patients. Muscular hypertrophy with increased chamber size and myocardial indentations were found. Two patients had asymmetrical septal hypertrophy (ASH), and two patients demonstrated systolic anterior movement (SAM) of the mitral valve. Wall motion analysis showed anomalities in four patients during contraction, in three during the early relaxation phase. Since pathological findings, probably increasing with age, were made in the majority of the patients, these findings add an additional unfavourable aspect to the syndrome.

Adolescent↗
PubMed1985

Cyclosporine A in a case of refractory severe aplastic anaemia.

A boy, born in 1975, developed severe aplastic anaemia in 1982. Treatment with oxymetholone plus corticosteroids and later bolus methylprednisolone was ineffective. Following a 5-d course with antithymocyte globulin, a partial remission was achieved, but thrombocytopenia necessitating platelet transfusions every 10-14 d persisted. Under treatment with cyclosporine A the thrombocytopenia improved markedly, and there is no need for further transfusions. These observations combined with those reported in another case of aplastic anaemia by Stryckmans et al (1) indicate that cyclosporine A may be of value in some cases of aplastic anaemia.

Anemia, Aplastic↗
PubMed1984

Intestinal and pulmonary cryptosporidiosis in an infant with severe combined immune deficiency.

Small intestinal biopsy established the diagnosis of cryptosporidiosis in a 6-month-old male infant with severe combined immune deficiency. Scanning and transmission electron microscopy revealed the ultrastructural details of Cryptosporidium in several stages of development within the patient's small intestine. The organism was resistant to all antibiotics used, and the patient died in the 5th month of his illness, despite receiving parenteral alimentation and undergoing thymus transplantation. His clinical course was similar to that of other patients with fatal immune deficiencies and cryptosporidiosis. Autopsy demonstrated organisms attacking the epithelium of the small intestine, pancreatic duct, and bronchioles. Multiple organ involvement in this patient negates the view that Cryptosporidium is site-specific for a given host or is alimentary-canal-specific in humans.

Diarrhea↗
PubMed1984

Immunoblastic lymphadenopathy with early onset in two boys: immunohistochemical study and indication of decreased proportion of circulating T-helper cells.

Two boys, 5 and 18 years old, had had frequent infections from their second month of life and had later suffered from generalized lymphadenopathy, intermittent maculopapular exanthema, anaemia, and weight loss. Histopathological features of lymph nodes were consistent with immunoblastic lymphadenopathy. Immunohistochemistry showed hyperimmune state with numerous T cells and macrophages along with selective polyclonal IgM-producing cell response in one patient, and IgG- and IgM-producing cells in the other. Both had severe deficiency of serum IgA. Classification of T-cell subsets (OKT4+ and OKT8+) in peripheral blood indicated an imbalance with a relative excess of putative suppressor cells (OKT4+/OKT8+ less than 1; normal, 1.7). It is suggested that decreased T-helper cell activity may explain the observed maturational defects in the B-cell system which probably underlie a hyper-reactive state induced by some sort of triggering, e.g. chronic infection. During steroid treatment the general condition improved remarkably and the lymphadenopathy and hepatosplenomegaly decreased, but the T-cell subset proportions and the serum immunoglobulin levels remained unchanged.

Child, Preschool↗
PubMed1984

Hydrops foetalis in 3 infants of a mother with acquired chronic pure red cell aplasia: transitory red cell aplasia in 1 of the infants.

A young woman with acquired chronic pure red cell aplasia (PRCA) gave birth to 3 infants with foetal hydrops. The 1st infant died shortly after birth, while the 2nd was stillborn with severe anaemia. Both had signs of increased erythropoiesis at autopsy. The 3rd infant was saved by foetal intrauterine red cell transfusions into the hepatic part of the umbilical vein. This infant had red cell aplasia lasting for about 3 months after birth, but then recovered. We believe that antibodies to red cell progenitors in the bone marrow were transferred transplacentally from mother to foetus, giving rise to severe affection of these infants. To the best of our knowledge this has not been reported previously in PRCA.

Antibodies↗
PubMed1984

Imerslund-Gräsbeck anemia. A long-term follow-up study.

A follow-up study has been performed on 14 patients, now aged 6-46 years, with Imerslund-Gräsbeck anemia (congenital, hereditary selective malasorption of vitamin B12). On intramuscular vitamin B12 therapy, the patients are clinically and hematologically normal. Those who had constant proteinuria in childhood continue to excrete protein in the urine. Our patients excrete an average of 750 mg of protein per 24 hours (range 13-1460 mg). The proteinuria is predominantly of glomerular origin, but some is also of tubular origin. Renal biopsies of the two oldest patients were normal on light microscopy. Electron microscopy revealed moderate signs of chronic glomerulopathy of mesangioproliferative type in both patients. The renal lesions do not seem to be progressive.

Adolescent↗
PubMed1983

Erythrocyte nucleotide pattern in two children in a Norwegian family with pyrimidine 5'-nucleotidase deficiency.

In the erythrocytes from two Norwegian children, a brother and a sister, with a hemolytic anemia due to pyrimidine 5'-nucleotidase deficiency, the pyrimidine and purine nucleotides have been investigated using HPLC with a strong anionic exchanger. The standard procedure was complemented with some additional elution systems which made it feasible to separate in the extract and to analyse, in addition to the conventional mono-, di- and triphosphates, UDP-glucose, UDP-N-acetylglucosamine, CDP-choline and CDP-ethanolamine. The two different purine nucleotides (A, G) and the two different pyrimidine nucleotides (U, C) exhibited normal ratios (energy charge ratios) between the conventional nucleotides. This would indicate that the erythrocytes have a sufficient energy production. It is suggested that the partly intravascular hemolysis might be due to disturbed synthesis of phospholipids.

5'-Nucleotidase↗