Princess Anne Hospital

About: Princess Anne Hospital is a healthcare organization based out in Southampton, United Kingdom. It is known for research contribution in the topics: Population & Breast cancer. The organization has 423 authors who have published 709 publications receiving 44790 citations.

A qualitative study of sleep quality in children and their resident parents when in hospital

Abstract: Objective Poor sleep quality impairs immune responses and pain tolerance, both key to recovery from acute illness. Hospitalised children and their co-sleeping parents also risk emotional lability and impaired coping skills when sleep-deprived. We aimed to study the experiences of children and parents during hospital admissions. Design Semi-structured interviews were conducted with parents within a week of their child9s discharge. Questions explored parent and child sleep quality, factors contributing to this, perceived impact on day-time functioning and suggested improvements to ward sleep environment. Setting Southampton Children9s Hospital, UK. Patients 17 co-sleeping parents of 16 children aged 3–12 years completed interviews. Children admitted for surgical procedures and those with established sleep disorders or nocturnal seizures were excluded. Main outcome measures Constant comparative methods identified themes within the data using a grounded theory approach. Results Parents reported that they, and to a lesser extent their children, experienced reduced sleep quality. Noise and light as well as ward schedules were identified as key factors disrupting sleep. Parents reported that lack of sleep caused difficulties with their own emotional regulation and that of their child, affecting daytime parent–child relationships. Furthermore, they reported a negative impact of sleep deprivation on decision-making about their child9s medical care. Conclusions Parents identified poor sleep in hospital as a significant additional burden to their child9s hospital admission. Importantly, they identified potential improvements to the ward sleep environment. Intervention studies that target modifiable, child-centred alterations to night-time ward culture are recommended, focusing on measurable child and parental outcomes.

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

Abstract: Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.

Functional disomy resulting from duplications of distal Xq in four unrelated patients

Abstract: Duplications involving the X chromosome, in which the duplicated region is not subject to inactivation, are rare. We describe four distal Xq duplications, in three males and one female, in which the duplicated X chromosomal material is active in all cells. The infantile phenotype bears some resemblance to that of the Prader–Willi syndrome, presenting with initial feeding difficulties, hypotonia and, sometimes, with cryptorchidism. However, the severity of the phenotype is not simply related to the size of the duplication and so variations in gene expression, gene disruption or position effects from breakpoints should be considered as explanations. We have compared the clinical, cytogenetic and molecular findings of our patients with those previously reported. This has enabled us to question the suggestion that duplication of the gene SOX3 is the cause of hypopituitarism and that duplication of Filamin A is the cause of bilateral periventricular nodular heterotopia/mental retardation syndrome (BPNH/MR). We have also narrowed the putative critical interval for X-linked spina bifida.

Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers

Abstract: Background The MDM2 gene encodes a negative regulator of the p53 tumour suppressor protein. A single nucleotide polymorphism (SNP) in the MDM2 promoter (a T to G exchange at nucleotide 309) has been reported to produce accelerated tumour formation in individuals with inherited p53 mutations. We have investigated the effect of the MDM2 SNP309 on clinical outcome in a cohort of patients with germline mutations of BRCA1.