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Biomedical subjects

M Seip

Publications and source records attributed to M Seip.

At least 19 recordsLinked to original sources
PubMed2001

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.

Pyrimidine 5' nucleotidase (P5'N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Recently, a protein with P5'N-1 activity was analyzed and a provisional complementary DNA (cDNA) sequence published. This sequence was used to study 3 families with P5'N-1 deficiency. This approach generated a genomic DNA sequence that was used to search GenBank and identify the gene for P5'N-1. It is found on chromosome 7, consists of 10 exons with alternative splicing of exon 2, and produces proteins 286 and 297 amino acids long. Three homozygous mutations were identified in this gene in 4 subjects with P5'N-1 deficiency: codon 98 GAT-->GTT, Asp-->Val (linked to a silent polymorphism codon 92, TAC-->TAT), codon 177, CAA-->TAA, Gln-->termination, and IVS9-1, G-->T. The latter mutation results in the loss of exon 9 (201 bp) from the cDNA. None of these mutations was found in 100 normal controls. The DNA analysis was complicated by P5'N-1 pseudogenes found on chromosomes 4 and 7. This study is the first description of the structure and location of the P5'N-1 gene, and 3 mutations have been identified in affected patients from separate kindreds. (Blood. 2001;97:3327-3332)

5'-Nucleotidase↗
PubMed2000

Three-nucleon force and the A(y) puzzle in intermediate energy p--> + d and d--> + p elastic scattering

New vector analyzing-power data on p-->+d elastic scattering at E(p) = 150 and 190 MeV have been measured. These are presented together with existing data and with recent d-->+p vector and tensor analyzing power data at E(d) = 270 MeV. The strong negative extremum of both vector analyzing powers A(p)(y) and A(d)(y) at straight theta(c.m.) approximately 80 degrees -120 degrees is underestimated by Faddeev calculations using modern NN forces. Inclusion of the Tucson-Melbourne 3N force shifts the minima upwards, but with conflicting results for A(p)(y), and leading to a good description for A(d)(y). An A(p)(y) puzzle, previously thought to exist at energies E(N)</=30 MeV only, appears to exist also at intermediate energies.

Journal Article↗
PubMed1999

[Pyrimidine-5'-nucleotidase deficiency--congenital hemolytic anemia with basophilic stippling of erythrocytes].

The disease is caused by a deficiency of the enzyme pyrimidine-5'-nucleotidase in the erythrocytes. About 50 cases have been published. We have diagnosed the disease in a pair of siblings from Numedal, Norway. Although this is a rare disorder it has a world-wide distribution. It is inherited as an autosomal recessive disease, and with genetic heterogeneity. In studies of iron balance we have found increased excretion of iron and hemoglobin in the urine, and free hemoglobin in plasma, indicating extravascular hemolysis. Kidney biopsy shows iron depositions in epithelial cells in proximal kidney tubules, localized to lysosomes. An evaluation by ordinary clinical examinations and laboratory tests do not indicate a progression of the disease over a ten-year period.

5'-Nucleotidase↗
PubMed1996

Generalized lipodystrophy, congenital and acquired (lipoatrophy).

This review is based on longitudinal studies on our seven patients with congenital generalized lipodystrophy, our patient with acquired generalized lipodystrophy, and published papers on these subjects. An inability to store energy in adipose tissue is of pathogenetic importance. In congenital lipodystrophy, insulin resistance is present from birth, resulting in hyperinsulinaemia, dyslipidaemia. and insulin-resistant diabetes with an anabolic syndrome worsened by a voracious appetite. Clinically, we observed increased height velocity in pre-school age children, and organomegaly with hypertrophic cardiomyopathy, which seems to be lethal in early adulthood: three of our patients died at the ages of 24, 32 and 37 years. The oldest alive, 39 years, suffers from stenocardia. Regarding treatment, it is most important to reduce energy consumption. The congenital form is recessively inherited. The aetiology may be related to insulin receptor or postreceptor mechanisms. Acquired generalized lipodystrophy seems to be an autoimmune disorder with secondary destruction of the adipose organ: the anabolic syndrome with insulin-resistant diabetes is secondary. Our patient died when 24 years old from pneumonia.

Carbohydrate Metabolism↗
PubMed1995

Autonomous hyperparathyroidism in X-linked hypophosphataemia.

Four patients with familial hypophosphataemic rickets developed significant hypercalcaemia which persisted after discontinuation of vitamin D therapy. They had increased PTH levels and were operated for hyperparathyroidism at the ages of 18, 20, 24 and 45 years, respectively. Three of the patients had previously received phosphate treatment and one patient developed hyperparathyroidism 7 years after treatment with calcitriol. Histological evaluation revealed different degrees of parathyroid hyperplasia in all patients, with persistently increased PTH and/or calcium levels after surgery. The possibility of autonomous hyperparathyroidism should be evaluated in the follow-up of patients with X-linked hypophosphataemic rickets.

Adult↗
PubMed1994

[A study of health status of school children 100 years ago].

In the years 1891 and 1892 an extensive study was carried out to determine the health of Norwegian school children. It was the first of its kind in the country. 16 middle schools and secondary schools from different parts of the country participated. The large majority of the children were between 12 and 16 years old, most of them from the social middle class. The plan was to study each pupil three times, in December 1891, in May 1892, and in August 1892. A total of 2,457 examinations were performed amongst 930 boys and 1,340 among 616 girls. The average age of menarche was 14.3 years. Height and weight were of course much lower than for Norwegian children today, but compared favourably with the situation elsewhere in Europe at that time. The symptoms and signs of disease recorded were headache, iron deficiency anaemia, gastrointestinal complaints (mostly recurrent abdominal pain), scoliosis, epistaxis, varying nervous complaints and a few other disorders. As a result of the study it was decided to appoint school physicians to every school, and to improve the physical education of the pupils.

Adolescent↗
PubMed1994

[School health services in Norway--rise and fall].

Professional interest in school hygiene and in the health of the pupils developed in Europe towards the middle of the 19th century. In Norway, professional discussion started with two lengthy debates in the Norwegian Medical Society in Oslo in 1866 and 1868. An important issue was the possible overburdening of the pupils with school work. Some private schools had their school doctor at that time, while public schools had to wait until 1896 or later before they got a school doctor. As head of the school health service in Oslo 1918-32 and professor of hygiene 1932-38, Carl Schiøtz had a dominant influence on the school health service in the years between the two world wars. In many respects the work was successful. Eradication of poverty and other profound changes in society after World War II called for a modernization of the school doctors' work. However, stagnation and regression have taken place. Since 1 January 1984, school health services have been administered by the local authorities. This decentralization has been detrimental to the school health services in many municipalities. Some proposals to improve the situation are mentioned briefly.

Adolescent↗
PubMed1993

[Infant nutrition in a historical perspective].

Throughout history man, with few exceptions, has meant that breast feeding is best for the infant. In poor countries with bad hygiene this can still be a question of life or death. However, during several millennia up to the end of the 19th century, there have been many periods and cultures when the upper classes have preferred to have wet nurses for their babies. Artificial feeding is known from the Roman empire from the time around the birth of Christ. For centuries, many misconceptions have had an influence on infant feeding, often with serious consequences for the baby and the mother. Since the latter half of the 19th century infant feeding based on scientific observations has gradually emerged, and further progress is expected in the coming years. Recent research has shown that the infant's diet is more important than it was thought to be ten years ago.

Breast Feeding↗
PubMed1993

[Teenage iron deficiency].

Iron deficiency is common in adolescents. This age-group needs more iron owing to the spurt of growth in puberty, and, in girls, because of menstrual losses, and in the event of pregnancy. In boys there is a normal rise in haemoglobin level from about 13 to about 15 g/100 ml, and in myoglobin (muscular mass). Physical training increases the need of iron (21). In addition, poor eating habits are quite common in adolescents. There are few data in the literature on the iron status of Norwegian adolescents, but large studies from USA, Canada and Sweden have disclosed iron depletion (s-ferritin below 16 micrograms/l) with or without anaemia in 40% of adolescent girls and 15% of adolescent boys. Screening, including haemoglobin and s-ferritin determinations, is advocated.

Adolescent↗
PubMed1993

[100 years of pediatrics in Norway. The history up to 1950].

The first department of pediatrics in Norway was opened at Rikshospitalet (The National Hospital of Norway) in January 1893. This marked the start of pediatrics as an independent discipline and specialty in Norwegian medicine. Upon this centennial we present the history of the department (and of pediatrics in Norway) up to 1950.

History, 19th Century↗
PubMed1993

Leukemic blasts with markers of four cell lineages in Down's syndrome ("megakaryoblastic leukemia").

Among 16 patients with Down's syndrome (DS) and acute leukemia admitted to our department during a ten year period, 6 were diagnosed as acute megakaryoblastic leukemia (AMkL). The diagnosis was based on clinical and hematologic criteria, confirmed in three patients with the use of monoclonal antibodies (MoAb) specific for megakaryocytic antigens. In these three, and in a fourth patient, the leukemic blasts were positive for other myeloid, lymphoid and erythroid markers in MoAb testing. We suggest that AMkL in DS is a mixed lineage leukemia with blasts presenting a variety of cell surface antigens, indicating origin from an early progenitor cell with the capability of megakaryocytic differentiation. Of the 6 patients with AMkL, 4 treated with standard AML protocols are in complete continuing remission (CCR) with observation periods from 57+ to 148+ months.

Adolescent↗
PubMed1991

[Late effects of nutritional deficiency during the first year of life].

"Programming" may be defined as a process whereby a stimulus or an insult applied during a "critical" or "sensitive" period of development can result in a long-term or permanent effect in the organism, with consequences for a number of metabolic, developmental and pathologic processes. The effect may sometimes occur after a long period of latency. Foetal life and infancy are such critical periods in man. Five examples of such programming are described from experiments in rats and baboons, after which the author discusses how nutritional deficiencies in foetal life and in infancy, either alone or combined with other adverse environmental factors, may have important consequences in later life.

Cardiovascular Diseases↗
PubMed1991

[Infant nutrition in Norway in the light of recent research].

Broadly speaking, infant nutrition in Norway is good during the first six months. Fortunately breast feeding is very common. In the second half of the first year, however, our infant nutrition is not quite in accord with recent research. The iron intake is less than recommended, and in many infants the iron status at one year of age is not satisfactory, although serious degrees of iron deficiency anemia are rare. Many infants are given cow's milk from six months of age, and thus receive more protein and electrolytes than desirable. This represents an unnecessary load on metabolism, fluid balance and kidneys, with too high "potential renal solute load". Insulin secretion is stimulated to a higher degree than with breast milk, and there is also some blood loss in the stools. The author emphasizes the importance of essential unsaturated fatty acids, particularly the fatty acids in marine oils (cod liver oil), and proposes a simple and inexpensive adjustment of Norwegian infant nutrition.

Humans↗