"Nobody asked us if we needed help": Swedish parents experiences of enuresis.

OBJECTIVE: To explore the everyday dilemmas of parents living with a child with nocturnal enuresis and to describe their support needs in relation to healthcare professionals. SUBJECTS AND METHODS: The study was conducted in 2011 in Uppsala County, Sweden. Parents of 13 children with enuresis, 10 mothers and three fathers, participated in qualitative semi-structured in-depth interviews, which were analysed using systematic text condensation. RESULTS: The analysis of the material resulted in six themes: enuresis is socially stigmatising and handicapping; all practices and home remedies are tested; it creates frustration in the family; protecting the child from gossip or teasing; support from healthcare providers would have helped; it's something we just have to live with. Two patterns of coping were identified: the Unworried wet-bed-fixers and the Anxious night-launderers. CONCLUSION: Having a child with enuresis can be stressful for parents, although they tried hard not to blame their child. Because parents can feel reluctant to bring up enuresis themselves, they want child health nurses to routinely raise the issue of bedwetting at the yearly check-up. Parents' information needs included causes of and available treatment options for enuresis as well as access to aids and other support for affected families.

'Children are exposed to temptation all the time'- parents' lifestyle-related discussions in focus groups.

AIM: To explore parents' perspectives on providing their preschool child with a healthy lifestyle, including obstacles and resources. METHODS: Five semi-structured focus group interviews were conducted, with 30 parents of 4-year-olds in Sweden. Interviews were transcribed verbatim and analysed using Systematic Text Condensation. RESULTS: Four themes emerged from the qualitative analysis: Lifestyle -'The way you live is parents' responsibility', Challenges to promote children's healthy lifestyle, Support from professionals, and peers might facilitate, and Request for an overall responsibility from society. Parents felt that they were role models for their child's lifestyle, a concept including many factors. Attractive and tempting sedentary activities and unhealthy foods were perceived as obstacles, and parents were frustrated by the media's contradictory lifestyle messages. Child health services were expected to more actively invite parents to discuss their child's lifestyle issues. Parents desired some collective responsibility for children's lifestyles through agencies, services and media messages that support and promote healthy choices. CONCLUSION: Parents struggled to give their children a healthy lifestyle and the 'temptations' of daily unhealthy choices causing hassles and conflicts. Parents desired professional support from preschool, Child Health Care and a collective responsibility from society with uniform guidelines. Parents groups were mentioned as peer support.

Towards an integrated approach to study SNPs and expression of candidate genes associated with milk protein biosynthesis.

MilkProtChip is oligonucleotide microarray allowing bovine genotyping based on single nucleotide polymorphisms (SNPs) in genes influencing milk protein biosynthesis. A total of 71 SNPs in 42 genes were selected as associated with milk protein biosynthesis. Genotyping of about 300 animals of Polish Black-and-White cattle showed that SNPs in acyl-CoA: 1,2-diacylglycerol O-transferase (DGAT1), lactoferrin (LTF), casein kappa (CSN3) and growth hormone receptor (GHR) genes were associated with several milk performance traits. Analysis of correlations between SNPs and milk production traits showed that SNPs in single genes rarely affect the investigated traits. Only 4 of 42 investigated single SNPs had impact on milk production traits while 22 combinations of paired SNPs in these genes had impact. Positive effect SNP combinations in two genes can be a result of additive effect on these SNPs on the same traits or effect of genes interaction. The MilkBovExp chip representing 90 genes encoding transcription factors expressed in the bovine mammary gland and/or involved in mammary gland signaling pathways was designed for further investigation of impact of gene expression and/or its encoded products on milk traits performance.

Associations between milk performance traits in Holstein cows and 16 candidate SNPs identified by arrayed primer extension (APEX) microarray.

An oligonucleotide microarray-which allows for parallel genotyping of many SNPs in genes involved in cow milk protein biosynthesis-was used to identify which of the 16 candidate SNPs are associated with milk performance traits in Holstein cows. Four hundred cows were genotyped by the developed and validated microarray. Significant associations were found between four single SNPs, namely DGAT1 (acyloCoA:diacylglycerol acyltransferase), LTF (lactoferrin), CSN3 (kappa-casein), and GHR (growth hormone receptor) and with fat and protein yield and percentage. Many significant associations between combined genotypes (two SNPs) and milk performance traits were found. The associations between the combined genotypes DGAT1/LTF and DGAT1/LEPTIN analyzed traits are presented as examples. The microarray based on APEX (Arrayed Primer Extension) is a fast and reliable method for multiple SNP analysis of potential application in marker-assisted selection. After further development, the chip may prospectively be used for dairy cattle paternity analysis and evolutionary studies.

Low frequency of microsatellite instability in hereditary prostate cancer.

OBJECTIVE: To investigate whether there is widespread microsatellite instability (MSI) in families with hereditary prostate cancer (HPC). PATIENTS AND METHODS: Eighty-four prostate tumours from 80 Swedish men in 35 families with HPC were screened for genetic instability at microsatellite marker loci BAT-25, BAT-26, BAT-34C4, D2S123 and D17S250. RESULTS: MSI was detected in only five individuals from different families. Three tumours (4%) were unstable at more than two MSI loci and hence classified as high-frequency MSI (MSI-H) according to a previous definition. Interestingly, two of the MSI-H tumours were from patients in families with both HPC and familial colon cancer. CONCLUSIONS: Widespread MSI is a rare event in hereditary prostate cancer, indicating that defective DNA mismatch repair is not an important element in the genesis of HPC.

BRCA2 mutation in a family with hereditary prostate cancer.

Hereditary prostate cancer is a genetically heterogeneous disease, and so far four different susceptibility loci have been identified. Reports of associated cancers are few, and it is generally considered a site-specific disease. However, some reports have shown an elevated risk for prostate cancer among BRCA2 mutation carriers. In this report, we present a family in which the father and four of his sons were diagnosed with prostate cancer at exceptionally early ages (51, 52, 56, 58, and 63 years, respectively). In addition, three daughters were diagnosed with breast cancer between the ages of 47 and 61. In this family, a truncating mutation in exon 11, 6051delA of the BRCA2 gene, leading to an early termination of the protein (codon 1962), was identified. Although BRCA2 is probably responsible only for a very small fraction of hereditary prostate cancers, this finding supports previous reports of an increased risk of prostate cancer in BRCA2 mutation carriers.

Low frequency of allelic imbalance at the prostate cancer susceptibility loci HPC1 and 1p36 in Swedish men with hereditary prostate cancer.

The aim of this study was to investigate allelic imbalance at the major human prostate cancer susceptibility locus HPC1 at 1q24-25 and the recently reported, putative, susceptibility locus at 1p36 in prostate tumors from Swedish families with hereditary prostate cancer. We analyzed 31 prostate tumors and two lymph node metastases from 33 Swedish men in 22 families with hereditary prostate cancer for the presence of allelic imbalance using microsatellite markers D1S158, D1S422, and D1S238 for the HPC1 locus and D1S1597, D1S407, and D1S489 for the 1p36 locus. Frequencies of allelic imbalance at the two investigated loci were quite low, 3 of 27 informative tumors at the 1p36 locus and 3 of 27 informative tumors at the HPC1 locus. Interestingly, two tumors showed allelic imbalance at both loci investigated, suggesting that they may have lost a great part of chromosome 1. Taking this possibility into consideration, the specific loss of the two investigated loci may be even lower (1 of 27 informative tumors for either locus). The very low level of allelic imbalance found at HPC1 and 1p36 makes it unlikely that these loci encode genes that are acting as classic tumor suppressor genes in the initiation or progression of hereditary prostate cancer. Of the eight tumors from HPC1-linked families, only two showed AI at the HPC1 locus, one of which had lost the wild-type allele.

Transcontinental shipping of pancreatic islets for autotransplantation after total pancreatectomy.

Islet autotransplantation prevents diabetes in some patients after total pancreatectomy. Pancreatectomy is done at most hospitals but islets are prepared at only a few centers. We report a case in which the pancreas was sent to a laboratory half a continent distant from the operative site, and islets were prepared and returned to the original hospital for autotransplantation 16 h after resection. At 10 months posttransplantation, the patient is normoglycemic and insulin independent, with an appropriate insulin secretion in response to glucose. Endocrine function can be retained after pancreatectomy even if the islets are isolated at a remote laboratory, and autotransplantation could be offered to patients without the need to travel. This outcome implies that the typical handling and processing of a pancreas destined to yield an islet allograft should not prevent the recovery of a sufficient number of viable beta cells to establish insulin independence in type 1 diabetic recipients.

Two glutamate decarboxylase forms corresponding to the mammalian GAD65 and GAD67 are expressed during development of the chick telencephalon.

The gamma-aminobutyric acid (GABA)-synthesizing enzyme glutamate decarboxylase (GAD) was studied during development of the chick telencephalon. By means of reverse-phase HPLC analysis, we showed that GABA indeed accumulates during embryogenesis, whereas the levels of glutamate, the substrate for GAD, are more or less unchanged up to later developmental stages. The enzyme activity increased approximately 25-fold from embryonic day 3 to embryonic day 17. Immunoblotting data revealed that two GAD proteins, of approximately 65 and 67 kDa, were present during the period investigated. Furthermore, Northern blot analysis with probes obtained from rat cDNA sequences, as well as a chicken-specific probe for GAD65 generated by means of reverse transcriptase-polymerase chain reaction (RT-PCR), strengthened the interpretation that the chick embryo expresses genes corresponding to GAD65 and GAD67. The rat probes recognized transcript sizes of 3.9 kb (GAD65) and 5.6 kb (GAD67), sizes which are different from those of the rat brain (Erlander et al., Neuron, 7, 91-100, 1991). Sequencing of the RT-PCR products revealed a high level of homology (82% at the nucleotide level) between the mammalian and chick GAD65 genes. Taken together, these findings suggest that the chick embryo expresses two GAD genes during embryogenesis. The functional properties of each gene product remain to be investigated.