Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inability to distinguish colors, impaired visual acuity, nystagmus and photophobia. A genome-wide search for linkage was performed using an inbred Jewish kindred from Iran. To facilitate the genome-wide search, we utilized a DNA pooling strategy which takes advantage of the likelihood that the disease in this inbred kindred is inherited by all affected individuals from a common founder. Equal molar amounts of DNA from all affected individuals were pooled and used as the PCR template for short tandem repeat polymorphic markers (STRPs). Pooled DNA from unaffected members of the kindred was used as a control. A reduction in the number of alleles in the affected versus control pool was observed at several loci. Upon genotyping of individual family members, significant linkage was established between the disease phenotype and markers localized on chromosome 2. The highest LOD score observed was 5.4 (theta = 0). When four additional small unrelated families were genotyped, the combined peak LOD score was 8.2. Analysis of recombinant chromosomes revealed that the disease gene lies within a 30 cM interval which spans the centromere. Additional fine-mapping studies identified a region of homozygosity in all affected individuals, narrowing the region to 14 cM. A candidate gene for achromatopsia was excluded from this disease interval by radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an essential first step in the identification of the disease-causing gene.      

The impact of the Catechol-O-methyltransferase Val158Met polymorphism on survival in the general population – the HUNT study

Background  

The catechol-O-methyltransferase (COMT) gene contains a functional polymorphism, Val158Met which has been related to common diseases like cancer, psychiatric illness and myocardial infarction. Whether the Val158Met polymorphism is associated with survival has not been evaluated in the general population. The aim of this prospective study was to evaluate the impact of codon 158 COMT gene polymorphism on survival in a population-based cohort.     

Emergence of a population of small, diploid hepatocytes during hepatocarcinogenesis

The sequential treatment of young Wistar rats with two differentcarcinogens (diethylnitrosamine - plus partial hepatectomy -as an initiator, and 2-acetylaminofluorene as a cytotometricselection pressure) induces the appearance of foci and nodulesof liver cells which are phenotypically altered. By means ofan algorithm which takes into account binuclearity as well ascell-to-cell aggregation it is possible to compute cellularploidy distributions from flow-cytometric analysis of eitherhepatocyte suspensions or suspensions of hepatocytic nuclei.Cell suspensions isolated from carcinogen-treated rats can beshown to contain, already after 8 weeks, 70% small, diploidhepatocytes, whereas suspensions from normal or partially hepatectomizedcontrol livers contain only 10% diploid cells (the remainder-beingmostly tetraploid). Isolated nodules, i.e., expanding clonesof proliferating cells, believed to be neoplastic precursorlesions, contained almost only diploid cells. These observationssuggest that the selective outgrowth of a population of small,diploid hepatocytes may be a significant early step in the developmentof liver cancer.     

Metastasis-associated protein S100A4 induces a network of inflammatory cytokines that activate stromal cells to acquire pro-tumorigenic properties

Tumor cells have the ability to exploit stromal cells to facilitate metastasis. By using malignant melanoma as a model, we show that the stroma adjacent to metastatic lesions is enriched in the known metastasis-promoting protein S100A4. S100A4 stimulates cancer cells to secrete paracrine factors, such as inflammatory cytokines IL8, CCL2 and SAA, which activate stromal cells (endothelial cells and monocytes) so that they acquire tumor-supportive properties. Our data establishes S100A4 as an inducer of a cytokine network enabling tumor cells to engage angiogenic and inflammatory stromal cells, which might contribute to pro-metastatic activity of S100A4.     

Primary infertility associated with schitosoma mansoni: a case report from the Jos plateau,north central Nigeria

Testicular schistosomiasis caused by Schistosoma mansoni is very rare and more so when associated with primary infertility. A 40 years old man from the Jos Plateau, North Central Nigeria presented with primary infertility after ten years of marriage. Sperm count revealed oligospermia and he also complained of inability to sustain erection. Testicular biopsy revealed several ova of Schistosoma mansoni in the connective tissue of the testes. Cases of infertility in endemic areas especially when there is no supply of potable water should raise suspicion of schistosomiasis among other pathologies and possible hormonal disturbances when the testes are involved.     

Experiences with nutrition-related information during antenatal care of pregnant women of different ethnic backgrounds residing in the area of Oslo,Norway

Objectiveto explore experiences with nutrition-related information during routine antenatal care among women of different ethnical backgrounds.Designindividual interviews with seventeen participants were conducted twice during pregnancy. Data collection and analysis were inspired by an interpretative phenomenological approach.Settingparticipants were purposively recruited at eight Mother and Child Health Centres in the area of Oslo, Norway, where they received antenatal care.Participantsparticipants had either immigrant backgrounds from African and Asian countries (n=12) or were ethnic Norwegian (n=5). Participants were pregnant with their first child and had a pre-pregnancy Body Mass Index above 25 kg/m².Findingsparticipants experienced that they were provided with little nutrition-related information in antenatal care. The information was perceived as presented in very general terms and focused on food safety. Weight management and the long-term prevention of diet-related chronic diseases had hardly been discussed. Participants with immigrant backgrounds appeared to be confused about information given by the midwife which was incongruent with their original food culture. The participants were actively seeking for nutrition-related information and had to navigate between various sources of information.Conclusionsthe midwife is considered a trustworthy source of nutrition-related information. Therefore, antenatal care may have considerable potential to promote a healthy diet to pregnant women. Findings suggest that nutrition communication in antenatal care should be more tailored towards women's dietary habits and cultural background, nutritional knowledge as well as level of nutrition literacy.