AIDS-related Kaposi''s sarcoma in a heterosexual female

A case is reported of AIDS-related Kaposi's sarcoma in a 22-year-old heterosexual female of Zambian origin.     

The importance of genes and environment for ocular refraction and its determiners: a population based study among 20-45 year old twins

AIMS: To estimate the heritability for ocular refraction and its determiners in a population based cohort of 20-45 years old twins. METHODS: 114 twin pairs (53 monozygotic and 61 dizygotic) participated. Refraction was determined in cycloplegia and eye dimensions were measured with ultrasound. Educational length was assessed. The heritability was estimated employing aetiological model fitting. Evidence of gene-environment interaction was analysed. Correlations between intrapairwise differences in educational length and in refraction were evaluated. RESULTS: The heritability was between 0.89 and 0.94 (95% CI: 0.82, 0.96) for refraction, total refraction, axial length, and radius of corneal curvature. Phenotypic variation was mostly due to additive genetic effects. Refraction revealed evidence of gene-environment interaction (r = -0.29 to -0.32; p <0.05). The heritability for anterior chamber depth and lens thickness was between 0.88 and 0.94 (95% CI: 0.81, 0.96) and dominant genetic effects were the most likely explanation. There was no correlation between age and intrapairwise differences in refraction. The dizygotic twins had significant larger intrapairwise differences in educational length (p <0.05), but the differences were not correlated with differences in refraction. CONCLUSIONS: The results indicate a high heritability for ocular refraction and its determiners and thus suggest that environmental impact on refraction is not significant. However, the epidemiological association between educational length (near work) and myopia, the evidence of increasing myopia prevalence within a few generations, and the theory of gene-environment interaction imply that some individuals might be genetically liable to develop myopia if exposed to certain environmental factors.     

Long-term outcome of resective epilepsy surgery in Norwegian children

Aim: The aim of this study was to evaluate the long-term results of resective surgery on children with difficult-to-treat epilepsy in Norway. Methods: In the period 1995–2004, 64 surgical procedures (54 resections and 10 functional hemispherotomies) were performed in 54 children. The children’s medical records were retrospectively reviewed at a minimum of 2 years after surgery. We sent a questionnaire regarding their epilepsy (seizures, usage of antiepileptic drugs) and general functioning (social situation, motor, language, cognition, behavioural or emotional problems, any remedial action) to the children/parents after a mean follow-up period of 7 years. Results: 55.5% of the children were seizure-free. The success rate varied according to the type of surgery. Best results were found after functional hemispherotomies and temporal lobe resections, as nine of 10 (90%) and 10 of 19 (53%) of these patients, respectively, became seizure-free. In addition to a better seizure control, 71% of the children/parents reported of a better cognitive and psychosocial functioning. Conclusion: The results of epilepsy surgery in this paediatric cohort are very edifying, and it is our impression that this treatment option is underused in Norway.     

β-Endorphin: peripheral opioid activity of homologues from six species

The peripheral opioid activity of six homologous β-endorphins (β-EPs) were assayed on the guinea pig ileum and the vas deferens of the mouse, the rat and the rabbit. In the guinea pig ileum assay, human β-EP (βh-EP) was less potent than camel, turkey, and ostrich β-EPs, of the same potency as equine β-EP and more active than des-acetyl salmon β-EP. In the rat vas deferens, mammalian β-EPs showed higher activity than those from the bird and the fish, whereas in the mouse vas deferens assay, βh-EP is more active than those from other species. In the rabbit vas deferens, however, all homologous β-EPs show very weak activity. The relative potency of β-EP homologues obtained from rat vas deferens assay is in good correlation with the analgesic potency, while the receptor binding activity does not correlate with any of the four bioassays, but appears to be related to the charge properties of the peptides.     

Evaluation of the red cell storage lesion after irradiation in filtered packed red cell units

Packed red cell units (n = 10) were filtered and divided equally. One-half unit from each donor was irradiated (x) (3500 cGy). On Days 0, 14, 28, and 42, ATP, K+, Na+, lactate dehydrogenase (LDH), plasma-free hemoglobin (PFH), and pH were determined. The reduction in ATP was greater in the irradiated than the nonirradiated (y) units by Day 42 (mean x-y: -70, p = 0.0005). The increase in K+ was greater in the irradiated than nonirradiated units on Days 14, 28, and 42 (mean x-y: 17-20, p = 0.0001). Decrease in pH and increases in LDH and PFH were significant (p less than 0.05) on Day 42 only. K+ increases added only 1.7 to 2.0 mmol per unit, a difference felt to be clinically insignificant. The changes noted in ATP, pH, LDH, and PFH are significant but minimal on Day 42 and imply that viability changes would also be minimal. These biochemical data support the storage of irradiated units for at least 28 days.     

Major role of genes in the etiology of simple goiter in females: a population-based twin study.

The etiology of simple goiter, affecting up to 5% of a population in nonendemic areas, is incompletely understood. It is generally believed to be multifactorial in origin, but the relative contributions of genetic and environmental factors remain to be clarified. Therefore, we investigated a well defined population of Danish twins. We performed a historical cohort study of 5.479 same sex twin pairs born between 1953 and 1972. Information on goiter was obtained from a nationwide questionnaire survey in 1994. Information from hospitals, out-patient clinics, and the subjects' general practitioners was sought to verify the diagnoses. Concordance rates, tetrachoric correlations, and heritability were determined. The crude probandwise concordance rates were 0.42 [95% confidence interval (CI), 0.26-0.591 and 0.13 (95% CI, 0.06-0.24) for female monozygotic and female dizygotic pairs, respectively. The age-adjusted cumulative probandwise risk for simple goiter from birth to age 43 yr was 0.53 (95% CI, 0.23-0.83) for female monozygotic twins and 0.18 (95% CI, 0.05-0.35) for female dizygotic twins (P = 0.003). The tetrachoric correlations were substantially higher in monozygotic (0.82; SE, 0.07) than in dizygotic twins (0.47; SE, 0.12). Model-fitting analysis suggested that the heritability of the liability to the development of simple goiter in women is approximately 82%. Individual-specific environmental factors not shared by cotwins seemed to explain the remaining 18%. We conclude that the etiology of clinically overt simple goiter is multifactorial. Genetic factors play a major role in the etiology of simple goiter in females, but environmental factors are also of importance.     

Centrosome overduplication induced by rotenone treatment affects the cellular distribution of p53 tumor suppressor protein in the neuroblastoma B65 cell line

Abstract  Recently, the formation of inclusion bodies in several neurodegenerative diseases, including Parkinson's disease, has been associated with the aggregation of unfolded proteins recruited in the centrosome. We have reported previously that rotenone, an insecticide that is used to produce experimental models of Parkinsonism, induced the aggregation of the α-synuclein protein in the centrosome, and it notably affected the structure and function of this organelle in primary cultures of mesencephalic neurons and astrocytes. However, it is still obscure the mechanisms through which the disorganization and centrosomal dysfunction could induce cell death. In this study the rat neuroblastoma B65 cell line was chronically exposed to rotenone, and then the distribution of the centrosomal protein γ-tubulin was studied by immunocytochemistry and Western blot analyses. Finally, the configuration of mitotic spindles and distribution of the p53 protein was observed in the control and rotenone-treated groups. Rotenone treatment increased the number of cells having centrosome overduplication and multipolar mitotic spindles. In contrast, rotenone induced redistribution of the p53 protein, which was colocalized with the γ-tubulin protein in the perinuclear region of cells having overduplicated centrosomes. In addition, the p53 positive signal was markedly intense in cells containing aberrant chromosome segregation and micronuclei. Our results suggest that centrosome overduplication may play an important role in the redistribution of the p53 protein in rotenone-treated cells, and this could represent an alternative mechanism of rotenone to induce apoptosis in neuronal cells.