[How we work in pediatric nursing education in Halmstad's Vårdskolan].
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Biomedical subjects
Publications and source records attributed to M Hoff.
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Data from the New York Cancer Registry show no evidence for higher cancer rates associated with residence near the Love Canal toxic waste burial site in comparison with the entire state outside of New York City. Rates of liver cancer, lymphoma, and leukemia, which were selected for special attention, were not consistently elevated. Among the other cancers studied, a higher rate was noted only for respiratory cancer, but it was not consistent across age groups and appeared to be related to a high rate for the entire city of Niagara Falls. There was no evidence that the lung cancer rate was associated with the toxic wastes buried at the dump site.
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The clinical and scanning-electron-microscope appearances of enamel defects in six patients with tuberous sclerosis are described. The pit-shaped enamel defects seem to be pathognomonic of the disease. The detection may be an important help in the early diagnosis of this complex syndrome.
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The combination of cDNA and RNA sequencing techniques has enabled determination of the complete sequence of one of the mRNAs coding for the precursor of the small subunit of ribulose bisphosphate carboxylase of Nicotiana sylvestris. In this 898-nucleotide-long mRNA, 540 nucleotides code for the entire 180-amino-acid-long precursor polypeptide consisting of the 57-amino acid-long transit peptide and the 123-amino-acid-long mature protein, while 60 and 195 nucleotides belong to the 5' and 3' noncoding flanking regions, respectively. The 5' end, which is very rich in AG residues, contains several direct and indirect repeated sequences, and a possible hairpin structure. The 3' end, terminated by a 103-nucleotide-long poly-A tail, is very rich in AU residues but does not contain the classical polyadenylation signal sequence.
Anti-thyroid peroxidase antibodies were prospectively assayed and compared with anti-microsome and anti-thyroglobulin antibodies in 203 patients (188 women, 15 men; mean age 42 +/- 14 years). These patients consulted for hyperthyroidism (n = 42, including 18 with Graves' disease), fumary hypothyroidism (n = 50, including 20 at the diagnosis stage), euthyroid diffuse or nodular goitre (n = 81) or benign euthyroid nodule (n = 14). Sixteen patients examined for fatigue, gynecomastia, menstrual disorders or overweight had normal thyroid function. Anti-thyroid peroxidase, anti-microsome and anti-thyroglobulin antibodies were assayed by radioimmunology or indirect immunofluorescence. Anti-thyroid peroxidase antibodies were most frequently present in patients with autoimmune thyroid diseases, such as Graves' disease (72%) or primary hypothyroidism (70%), and correlated with anti-microsome antibody levels (r = 0.87; p less than 0.001). Anti-thyroid peroxidase antibodies were absent in patients with benign euthyroid nodule; they were present in 22% of patients with euthyroid goitre and in 12% of control patients; their level decreased during replacement therapy for hypothyroidism. It is concluded that radioimmunological assays of anti-thyroid peroxidase antibodies should replace anti-microsome and anti-thyroglobulin antibodies in thyroid evaluation.
Cystic fibrosis is a recessive genetic disorder, characterized clinically by chronic obstructive lung disease, pancreatic insufficiency and elevated sweat electrolytes; affected individuals rarely live past their early twenties. Cystic fibrosis is also one of the most common genetic diseases in the northern European population. The frequency of carriers of mutant alleles in some populations is estimated to be as high as 1 in 20, carrying a concomitant burden of about one affected child in 1,500 births. Because little is known of the essential biochemical defect caused by the mutant gene, a genetic linkage approach based on arbitrary genetic markers and family studies is indicated to determine the chromosomal location of the cystic fibrosis (CF) gene. We have now obtained evidence for tight linkage between the CF locus and a DNA sequence polymorphism at the met oncogene locus. This evidence, combined with the physical localization data for the met locus presented in the accompanying paper, places the CF locus in the middle third of the long arm of chromosome 7, probably between bands q21 and q31.
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Alterations in dopaminergic activity may play an important role in the pathogenesis of schizophrenia. The central effects of dopamine are mediated by at least five G protein-coupled receptors, D1, D2, D3, D4 and D5. The D1 receptor maps to 5q35.1 and it identifies an Eco RI as well as a Taq I RFLP. In the present study we undertook a linkage analysis between the D1 receptor RFLPs and schizophrenia in 9 multigenerational families in which segregation of disease was consistent with autosomal dominant inheritance and reduced penetrance. Several flanking DNA markers were also analyzed as the D1 receptor RFLPs were relatively uninformative in our families. Pairwise analyses of schizophrenia and several flanking markers indicate that inheritability of this region is unlikely to be involved in the pathogenesis of schizophrenia in the 9 families studied.
A large body of data suggests that perturbations in brain dopaminergic transmission play a role in the pathogenesis of schizophrenia. Recently, the gene for the human dopamine transporter has been cloned and polymorphisms have been identified. Because mutations of the dopamine transporter gene might underlie the cause of schizophrenia in a subset of families, we undertook a linkage analysis between schizophrenia in 9 families and a dopamine transporter gene polymorphism. Evidence of linkage was not found in most families assuming autosomal dominant or recessive inheritance.
Nine multiplex schizophrenia families were genotyped with seven highly polymorphic microsatellite loci used in the construction of an index map of chromosome 21. Assuming either autosomal dominant or recessive transmission, evidence of linkage was not found. In addition, the nonparametric sib-pair test did not yield significant evidence of linkage.
Six multigenerational pedigrees containing multiple cases of manic-depression were genotyped with a DNA polymorphism for the norepinephrine transporter (NET) gene. Using both parametric and nonparametric methods, no evidence of linkage between manic-depression and the NET gene was found.
Linkage of New York State record systems was the key strategy in a restrospective cohort study with a 24-34 year followup interval. Parents of children with anencephaly or spina bifida and matched control parents were traced to determine the parents' cancer and death experience. Birth certificates for Upstate New York for 1945-55 were the source of the study groups. This report describes the methodology employed. The New York State Health Department's Cancer Registry and vital records, the State motor vehicle license files, and city and phone directories were searched for the most recent record indicating residence in Upstate New York, cancer incidence, or death.Among the parents of the 1,152 index children were 18,571 person-years of followup for mothers and 21,675 person-years for fathers. Among the 1,152 controls, there were 19,682 person-years of followup for mothers and 22,596 person-years for fathers. Although losses were larger than the optimal, a large proportion of the maximum possible person-years were obtained, regardless of the birth year of the index child. Patterns of loss to followup were similar for cases and controls.Record linkage techniques are especially applicable in followup studies if the risk factor is identifiiable from routinely collected information (for example, congenital neural tube defects listed on birth certificates) and the outcome is also identifiable from such records (for example, cancer registry certificate or death certificate). If the outcome is definitive, reported routinely and comprehensively, and stored on a machine-readable medium, use of a computerized record linkage design is very efficient. A major advantage of the design is that cases and controls are treated equally with respect to outcome ascertainment and followup, so that some potential biases are eliminated. Finally, the method is non-intrusive; the subjects are never contacted or interviewed. Strictly maintained confidentiality is, of course, required.