Professional and social support enhances maternal well-being in women with intellectual disability – A Swedish interview study

Objective

to gain a deeper understanding of the experience of professional and social support during pregnancy and childbirth among women with intellectual disability (ID) in Sweden.

Design/setting

an interview study among 10 women with ID, who had given birth within seven years. Two interviews were performed with each woman and data were analysed with qualitative content analysis.

Findings

the overarching theme was: Professional and social support enhances maternal well-being in women with intellectual disability. The women described that the midwife and other caregivers contributed to their own insights and supported their mother-to-be process. They were mostly satisfied with the professional care and support during pregnancy and childbirth, based on aspects such as continuity, competence and professional experience of the midwives but also professional approach and working methods. Dissatisfaction and confusion occurred when questions were left unanswered or when the women?s special needs were not taken into consideration. Family members, friends and colleagues could also have a supporting role and, together with the health staff, contribute to the well-being of the woman.

Conclusions

if professional support and care from midwives and other caregivers is adapted to the special needs of women with ID, it contributes to new insights, enhances well-being and supports the process of becoming a mother. Midwife-led continuity of care together with continuous social support should be offered to pregnant women with ID during pregnancy and childbirth.     

Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease that predominantly affects the right ventricle and is associated with ventricular arrhythmias that may lead to sudden cardiac death. Mutations within at least seven separate genes have been identified to cause ARVC, however a genetic culprit remains elusive in approximately 50% of cases. Although negative genetic testing may be secondary to pathogenic mutations within undiscovered genes, an alternative explanation may be the presence of large deletions or duplications involving known genes. These large copy number variants may not be detected with standard clinical genetic testing which is presently limited to direct DNA sequencing. We describe two cases of ARVC possessing large deletions involving plakophilin‐2 (PKP2) identified with microarray analysis and/or multiplex ligation‐dependent probe amplification (MLPA) that would have been classified as genotype negative with standard clinical genetic testing. A deletion of the entire coding region of PKP2 excluding exon 1 was identified in patient 1 and his son. In patient 2, MLPA analysis of PKP2 revealed deletion of the entire gene with subsequent microarray analysis demonstrating a de novo 7.9 Mb deletion of chromosome 12p12.1p11.1. These findings support screening for large copy number variants in clinically suspected ARVC cases without clear disease causing mutations following initial sequencing analysis.     

A novel isoform of the B cell tyrosine kinase BTK protects breast cancer cells from apoptosis

Tyrosine kinases orchestrate key cellular signaling pathways and their dysregulation is often associated with cellular transformation. Several recent cases in which inhibitors of tyrosine kinases have been successfully used as anticancer agents have underscored the importance of this class of proteins in the development of targeted cancer therapies. We have carried out a large‐scale loss‐of‐function analysis of the human tyrosine kinases using RNA interference to identify novel survival factors for breast cancer cells. In addition to kinases with known roles in breast and other cancers, we identified several kinases that were previously unknown to be required for breast cancer cell survival. The most surprising of these was the cytosolic, nonreceptor tyrosine kinase, Bruton's tyrosine kinase (BTK), which has been extensively studied in B cell development. Down regulation of this protein with RNAi or inhibition with pharmacological inhibitors causes apoptosis; overexpression inhibits apoptosis induced by Doxorubicin in breast cancer cells. Our results surprisingly show that BTK is expressed in several breast cancer cell lines and tumors. The predominant form of BTK found in tumor cells is transcribed from an alternative promoter and results in a protein with an amino‐terminal extension. This alternate form of BTK is expressed at significantly higher levels in tumorigenic breast cells than in normal breast cells. Since this protein is a survival factor for these cells, it represents both a potential marker and novel therapeutic target for breast cancer. © 2013 Wiley Periodicals, Inc.     

Regulation of arteriolar density in adult myocardium during low thyroid conditions

Low thyroid function induced by either propylthiouracil (PTU) treatment or thyroidectomy surgery led to a reduction of arteriolar density in adult rat myocardium, which can be prevented by treatment with thyroxine or the thyroid hormone analogue 3,5-diiodothyropropionic acid (DITPA). However, many questions related to pathophysiological changes and the regulation of arteriolar density in the heart due to hypothyroidism remain unanswered. Sprague–Dawley rats were treated with PTU in drinking water for 1, 3, and 6 weeks, or co-treated with the vasodilator dipyridamole and PTU for 6 weeks, or treated with PTU for 6 weeks and treatment discontinued for 2 or 4 weeks. Heart mass, body mass, cardiac function and myocardial arteriolar density were determined. Arteriolar loss in hypothyroidism induced by PTU treatment progressed gradually with a 22% reduction after 3 weeks treatment and 34% by 6 weeks which was largely reversed after discontinuing PTU treatment for only 2 weeks. Combined treatment with the vasodilator dipyridamole during the 6-week PTU treatment period prevented vessel loss indicating the mechanism of arteriolar loss from hypothyroidism may result from vasoconstriction. These results suggest that thyroid hormone is a powerful regulator of vasculature in adult myocardium, particularly in low thyroid states.     

Midwives' knowledge of,attitudes towards and experiences of caring for women with intellectual disability during pregnancy and childbirth: A cross-sectional study in Sweden

Objective

to investigate midwives' knowledge of, attitudes towards and experiences of caring for women with intellectual disability (ID) during pregnancy and childbirth.

Design/setting

a cross-sectional study among six hundred midwives working at antenatal care and labour wards in Sweden.

Results

more than four out of five (81.5%) midwives had experience of caring for women with ID. Almost all midwives (97.1%) reported that caring for women with ID is different from caring for women without ID. Almost one-half (47.3%) had not received any education about pregnancy and delivery of women with ID, and a majority of the midwives (95.4%) requested evidence-based knowledge of women with ID in relation to childbirth. High proportion (69.7%) of the midwives were of the opinion that women with ID cannot satisfactorily manage the mother role, and more than one-third (35.7%) of the midwives considered that women with ID should not be pregnant and give birth at all. Most midwives partly/totally agreed that children of women with ID should grow up with their parents supported by the social authorities, but nearly one-fifth (19.1%) partly/totally agreed that the children should grow up in foster care.

Conclusions

even if the majority of midwives had experience of caring for women with ID, they were uncertain about how to adapt and give advice and they needed more knowledge about these women. Some midwives had negative attitudes towards childbearing among women with ID. Health Service providers should encourage midwives to update their knowledge and provide supportive supervision in midwifery care for women with ID.