[The experiences, attitudes and knowledge of medical personnel towards women with intellectual disabilities being mothers]. / Zkusenosti, postoje a znalosti zdravotníku o rodicovství zen s mentálním postizením.

AIM: The aim of the study was to analyse experiences, attitudes and knowledge of Czech medical personnel towards women with intellectual disabilities being pregnant and/or mothers. TYPE OF STUDY: Survey research. SETTING: Charles University, Faculty of Education, Department of Special Education, Prague. RESEARCH METHODOLOGY: There were 175 medical personnel who completed a survey. The statistical analysis was conducted in a statistical program SPSS21. The data was analysed using the factor analysis approach. FINDINGS: The majority of respondents were medical personnel with decades of practice in their fields, however with minimal experiences with women with intellectual disabilities who are pregnant and/or mothers. The respondents had a relatively low level of knowledge about services available to these women. The participating medical personnel identified the diverse needs of women with intellectual disabilities during antenatal period, childbirth and in a postnatal period, however they also believed that these needs are not addressed accordingly. The majority of participants believed that women with intellectual disabilities can be successful mothers and should be allowed to have children in their custody. However more than half of the medical personnel admitted the possibility of abortion, and two thirds of the participants would not allow women with intellectual disabilities to make a decision about how many children they wish to have. CONCLUSION: Information and development of practical competencies in providing complex and individually oriented support to women with intellectual disabilities needs to be included in systemic education of medical personnel.

Modification of microflora imbalance: future directions for prevention and treatment of colorectal cancer?

Increasing incidence and mortality of colorectal cancer brings the necessity to uncover new possibilities in the prevention, diagnosis and treatment. The microbiome as the collective genetic material of the microflora, overexceed the number of genes in the human genome and is unique for each individual. Due to the benefits providing for the host and mainly for immediate interaction with the host immune system, a gastrointestinal microflora can be considered "cardinal microbiome". Host-microbial relations includes symbiotic, pathogenic and competitive interactions. Causal role of gastrointestinal microflora in colorectal carcinogenesis is still not well determined. This minireview is focused on current evidence in understanding the role of bacteria in colorectal carcinogenesis, the impact of bacterial dysbiosis on tumor formation, and ability of probiotics and bacterial vectors to modulate the gastrointestinal microflora as prevention and therapy tool in colorectal cancer.

Intestinal flora of FAP patients containing APC-like sequences.

Colorectal cancer mortality is one of the most common cause of cancer-related mortality. A multiple risk factors are associated with colorectal cancer, including hereditary, enviromental and inflammatory syndromes affecting the gastrointestinal tract. Familial adenomatous polyposis (FAP) is characterized by the emergence of hundreds to thousands of colorectal adenomatous polyps and FAP syndrome is caused by mutations within the adenomatous polyposis coli (APC) tumor suppressor gene. We analyzed 21 rectal bacterial subclones isolated from FAP patient 41-1 with confirmed 5bp ACAAA deletion within codons 1060-1063 for the presence of APC-like sequences in longest exon 15. The studied section was defined by primers 15Efor-15Erev, what correlates with mutation cluster region (MCR) in which the 75% of all APC germline mutations were detected. More than 90% homology was showed by sequencing and subsequent software comparison. The expression of APC-like sequences was demostrated by Western blot analysis using monoclonal and polyclonal antibodies against APC protein. To study missing link between the DNA analysis (PCR, DNA sequencing) and protein expresion experiments (Western blotting) we analyzed bacterial transcripts containing the 15Efor-15Erev sequence of APC gene by reverse transcription-PCR, what indicated that an APC gene derived fragment may be produced. We observed 97-100 % homology after computer comparison of cDNA PCR products. Our results suggest that presence of APC-like sequences in intestinal/rectal bacteria is enrichment of bacterial genetic information in which horizontal gene transfer between humans and microflora play an important role.

Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309.

Germline mutation in APC gene induced development of familial adenomatous polyposis (FAP). The risk of developing specific manifestation of FAP is often correlated with the position of the inherited APC mutation. Patients with mutations localized in the largest exon 15 between codons 1286 and 1513 (mutation cluster region, MCR) have generally a worse prognosis with early onset of the disease. We found 6 FAP families with mutation at codon 1309 (3927_3931delAAAGA) in the cohort of 39 FAP Slovak families with rapid cancer progress. In addition, mutation in codon 1309 was detected in three family members, one of them with a very different phenotype. This oldest family member, aged 81, has persisted asymptomatic without clinical manifestations.