Biomedical subjects
Sue Williams
Publications and source records attributed to Sue Williams.
Immunohistochemical findings in embryonal small round cell tumors with molecular diagnostic confirmation.
The diagnosis of pediatric tumors relies heavily on immunohistochemical staining of small tissue biopsies, since many entities share a "small blue cell" phenotype. More recently, molecular genetic analysis for detection of specific gene fusion products has become available. With the increased use of such molecular techniques, the authors have noted that tumors with proven molecular diagnoses can exhibit unusual patterns of immunohistochemical staining. This study examines pediatric tumors with a "small blue cell" phenotype in which molecular diagnoses were available where applicable. A panel of immunohistochemical stains was performed (S100, CD56, NB84, CD99 [MIC2], Bcl-2, CD117, CD34, desmin, MNF116, and WT1). In the 370 sections from 37 cases, all primitive neuroectodermal tumors, with and without the presence of t(11;22), demonstrated uniform membranous membrane staining with CD99 (MIC2) and focal staining with CD56, NB84, MNF116, and WT1. All rhabdomyosarcomas, both alveolar and embryonal, demonstrated uniform desmin, CD56, and cytoplasmic WT1 immunostaining. Desmoplastic small round cell tumors showed positive cytokeratin staining, with half having "dot-like" cytoplasmic desmin and WT1 positivity; some showed focal positivity for NB84, CD99, and Bcl-2. The "undifferentiated" sarcomas showed the widest range of staining, with no marker staining all cases. Neuroblastomas exhibited uniform strong staining for CD56 and NB84 and marked cytoplasmic Bcl-2 positivity, and some cases showed cytoplasmic WT1 expression. Blastematous Wilms' tumors showed uniform strong membranous staining for CD56, uniform cytoplasmic staining for Bcl-2, and nuclear expression of WT1. Embryonal pediatric malignancies can demonstrate apparently nonspecific expression patterns for several antigens, which may reflect developmental immaturity rather than specific differentiation pathways.
Dietary improvement in people with schizophrenia: randomised controlled trial.
BACKGROUND: People with schizophrenia make poor dietary choices. AIMS: To measure the impact of giving free fruit and vegetables for 6 months on eating habits in schizophrenia. METHOD: We randomly allocated 102 people with schizophrenia in two areas of Scotland to receive free fruit and vegetables for 6 months, supported by instruction in meal planning and food preparation; free fruit and vegetables alone; or to continue as before. Diet was assessed using the Scottish Health Survey questionnaire. Blood samples to measure micronutrients were taken and mental state, body mass index, level of physical activity and future risk of coronary heart disease (CHD) were assessed. RESULTS: After the intervention, those who received free fruit and vegetables, or free fruit and vegetables and associated instruction, were consuming significantly more fruit and vegetables than those in the treatment as usual group. Consumption fell to pre-intervention levels 12 months after the intervention stopped. There was no between-group difference at any time in blood micronutrients, body mass index, physical activity or risk of CHD. CONCLUSIONS: The diet of people with schizophrenia improved when they were given free fruit and vegetables but this was given free fruit and vegetables but this was not sustained after withdrawal of the intervention. A support programme added no benefit.
Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.
Studies of families with breast cancer have indicated that male carriers of BRCA2 mutations are at increased risk of prostate cancer, particularly at an early age. To evaluate the contribution of BRCA2 mutations to early-onset prostate cancer, we screened the complete coding sequence of BRCA2 for germline mutations, in 263 men with diagnoses of prostate cancer who were </=55 years of age. Protein-truncating mutations were found in six men (2.3%; 95% confidence interval 0.8%-5.0%), and all of these mutations were clustered outside the ovarian-cancer cluster region. The relative risk of developing prostate cancer by age 56 years from a deleterious germline BRCA2 mutation was 23-fold. Four of the patients with mutations did not have a family history of breast or ovarian cancer. Twenty-two variants of uncertain significance were also identified. These results confirm that BRCA2 is a high-risk prostate-cancer-susceptibility gene and have potential implications for the management of early-onset prostate cancer, in both patients and their relatives.
Feasibility and effectiveness of a pulmonary rehabilitation programme in a community hospital setting.
BACKGROUND: Pulmonary rehabilitation programmes run in secondary care have proved to be one of the most effective interventions for patients with chronic obstructive pulmonary disease (COPD). AIM: To assess whether a pulmonary rehabilitation programme, similar to that run in secondary care, could be established in a primary care-run community hospital and whether it could achieve similar benefits in patents with moderately severe COPD. DESIGN OF STUDY: Uncontrolled prospective intervention study SETTING: A primary care-run community hospital. METHOD: Thirty-four patients with COPD aged between 5 and 80 years of age (mean = 70years) with a forced expiratory volume (FEV1) of 30 to 50% (mean = 40%) predicted were enrolled in a programme established in the activities room at Honiton Community Hospital. Patients were assessed at the start, on completion of the programme, and six months after completion, using spirometry, shuttle-walking distance, and short form-36 (SF-36) and chronic respiratory questionnaire (CRQ) scores. RESULTS: All but one patient completed the programme. There were significant improvements in the walking distance (by a mean of 100 m), in the SF-36, and in all domains of the CRQ. There was no significant change in the FEV1 or forced vital capacity. CONCLUSION: Pulmonary rehabilitation programmes can be run in community hospitals. They appear to be as effective as those run in secondary care and patients may find them easier to access.
Improving the continuing care for individuals with spinal cord injuries.
The author of this article responded to a need to address a service deficit for individuals with spinal cord injury, by setting up a nurse-led outpatient clinic to review, assess, advise and help patients develop problem-solving strategies to enable them to maintain their level of independence in the community, prevent unnecessary admissions and minimize the development of more serious complications that arise as a consequence of ageing with a spinal cord injury. The clinic sessions provided an effective service which demonstrated its value by achieving the following outcomes: provided a practical problem-solving approach to changes in physical function; prevented unnecessary hospitalization; identified issues that required referral for additional specialist/services. Unfortunately, despite its short-term success, there were a number of issues (staffing and funding) which prevented the continuation and further development of the service. However, although not yet currently published, the key themes of the National Service Framework (NSF) for individuals with neurological conditions advocated the type of approach to patient care that has been reflected within this clinic (lifelong support from specialist practitioners and person-centred care). Hopefully the publication of such an influential document will support the development of future initiatives within the specialist field.