Endocrine Abstracts

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, failure to thrive and skeletal abnormalities such as accelerated osseous development, osteopenia, bullet-shaped middle phalanges and kyphoscoliosis. MSS is caused by truncating or frameshift mutations of the nuclear factor I/X (NFIX) gene, which encodes a ubiquitously expressed transcription factor that regulates expression of viral and cellular genes, i...

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, failure to thrive and skeletal abnormalities such as accelerated osseous development, osteopenia, bullet-shaped middle phalanges and kyphoscoliosis. MSS is caused by truncating or frameshift mutations of the nuclear factor I/X (NFIX) gene, which encodes a ubiquitously expressed transcription factor that regulates expression of viral and cellular genes, i...

Marshall-Smith syndrome (MSS) is a congenital disorder affecting skeletal and neural development due to mutations in the nuclear factor I/X (NFIX) gene. Of these mutations, 61% are small insertions/deletions, 12% are splice site mutations and 27% are large exonic deletions clustered in exons 6–10 of the NFIX gene. In order to derive a MSS mouse model, the N-ethyl-N-nitrosourea (ENU) mutagenesis DNA archive was screened ...

Marshall-Smith syndrome (MSS) is a congenital disorder affecting skeletal and neural development, due to mutations in the nuclear factor I/X (NFIX) gene. NFIX encodes a ubiquitously expressed transcription factor that regulates the expression of viral and cellular genes. To identify novel genes that are misregulated by NFIX mutations, RNA sequencing and proteomics analyses were performed on mouse embryonic fibroblast (MEF) cells derived from a repres...

Background: Ovarian steroid action is not limited to the gonadal–pituitary–hypothalamic axis. A recent pre-clinical investigation by Sutcliffe et al. (2007) suggests female sex steroids influence learning and memory strategies. However, data from human trials involving various hormone replacement regimens and assessment of memory in pregnancy appear equivocal.Pregnancy allows overriding of regulatory feedback loops leading to elevation o...

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, short stature, respiratory difficulties, distinctive facial features, skeletal abnormalities (such as kyphoscoliosis, dysostosis and osteopenia) and delayed neural development, and is due to heterozygous mutations that are clustered in exons 6–10 of the transcription factor nuclear factor I/X (NFIX) gene. These frameshift and splice-site NFIX variants result in t...

Intensive insulin regimes are widely accepted as the best way to control diabetes in children as well as adults, and most centres in the UK offer support for intensive regimes. The emphasis on intensification of diabetes management in children and young people has implications for schools because children need injections, or to use an insulin pump, during the school day, which may not have been required in bi-daily injection regimes.Diabetes teams need t...

Background: The notion of ‘normal’ is dominant in the lives of children with type 1 diabetes and their parents, because living with diabetes not only makes families different but it also makes their pursuit of ‘normal’ more visible.Aim: To develop a theoretical understanding of how children and their parents living with type 1 diabetes construct and perceive ‘normal’, and how they integrate ‘normal’ into their dail...

Background: Recent research on experiences of adults with a rare endocrine condition/disease (RED) indicate a preference for greater access to allied health professionals including physiotherapists.Objective: To explore experiences of musculoskeletal (MSK) symptoms (typically managed by physiotherapy) of adults living with a RED and investigate their reported usage and satisfaction of MSK physiotherapy services.Method: Ethically ap...

Prostaglandins are important mediators of reproductive function. However, comparative differences in functional prostanoid receptors during gestation and postpartum are not fully explored. The aim of this study was to compare the responsiveness to PGF2α, PGE2, and U46619 in the rat uterine horn at late gestation and postpartum. Rats were sacrificed at late gestation (n=5–6) and at postpartum (n=5–6). Uterine horns were opened longitudinally, cleare...