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Biomedical subjects

L Williamson

Publications and source records attributed to L Williamson.

At least 19 recordsLinked to original sources
PubMed2006

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

The Antley-Bixler syndrome (ABS) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, joint contractures, urogenital abnormalities and, often, early death. Autosomal recessive and dominant inheritance have been postulated, as has fluconazole teratogenesis. Mutations in POR (P450 (cytochrome) oxidoreductase, an essential electron donor to enzymes participating in cholesterol biosynthesis), have been identified in some patients with the ABS phenotype. Recent evidence suggests that these mutations cause attenuated steroid hydroxylation, which in turn, causes congenital adrenal hyperplasia (CAH) with ambiguous genitalia in both sexes and glucocorticoid deficiency. Here, we report on a new patient with findings of both ABS and CAH that further illustrates how low maternal estriol at prenatal screening can serve as a marker steroid facilitating early diagnosis.

Abnormalities, Multiple↗
PubMed2004

Extended report: nail disease in psoriatic arthritis--clinically important, potentially treatable and often overlooked.

OBJECTIVES: To examine the relationship between the severity of nail disease and characteristics of psoriatic arthritis (PsA). We also wished to assess the clinical management of nail disease in patients with PsA. METHODS: We studied 69 patients with PsA at two visits. On the first visit, a rheumatology assessment of joint, skin and nail disease was made. On the second visit, a detailed dermatology assessment of skin and nails was made. Nail disease was analysed using a 20-nail psoriasis nail severity score (PNSS). RESULTS: There were 57 (83%) patients with clinical evidence of psoriatic nail disease. Although 66 (96%) patients had been treated for skin disease, only one (1%) had received any treatment for nail disease. Severe nail disease measured by the PNSS correlated with severe skin psoriasis as indicated by the percentage of body surface area affected by psoriasis (r = 0.34, P = 0.004) and physician global assessment of psoriasis (r = 0.45, P<0.001). Patients with distal interphalangeal (DIP) joint disease had higher PNSS scores (P = 0.03). The PNSS was also associated with unremitting and progressive arthritis (P<0.001), and correlated with Stanford health assessment questionnaire (HAQ) (r = 0.34, P = 0.004), depression (r = 0.39, P<0.001) and anxiety (r = 0.34, P = 0.004) scores. Compared with dermatology assessment, the rheumatology examination of nail disease had a positive predictive value of 84% and negative predictive value of 83%. CONCLUSIONS: In patients with PsA, the severity of nail disease correlates with indicators of severity of both skin and joint disease. Although rheumatologists can adequately screen for nail disease, the management of this aspect of PsA is often overlooked.

Adolescent↗
PubMed2003

Clinical assessment of sacroiliitis and HLA-B27 are poor predictors of sacroiliitis diagnosed by magnetic resonance imaging in psoriatic arthritis.

OBJECTIVE: To determine the frequency and clinical predictors of sacroiliitis diagnosed by magnetic resonance imaging (MRI) in a psoriatic arthritis (PsA) population. METHODS: The studied comprised 103 patients with PsA. A careful clinical assessment for sacroiliitis was made from history and examination, and HLA-B27 testing was performed. Sixty-eight patients underwent tilted coronal fat-saturated T1-weighted and STIR MRI of the sacroiliac joints. RESULTS: Clinical features of moderate or severe sacroiliitis were found in 24/68 (35%) patients. MRI features of sacroiliitis were found in 26/68 (38%) patients. Clinical features of sacroiliitis were present in 14/42 (33%) with normal MRI scans and 10/26 (38%) with abnormal scans (normal vs abnormal scans, P = 0.7). The presence of sacroiliitis on MRI was associated with restricted spinal movements (P = 0.004) and the duration of PsA (P = 0.04). There was no correlation between HLA-B27 and sacroiliitis diagnosed by MRI. CONCLUSION: Sacroiliitis diagnosed by MRI occurs commonly in PsA but is difficult to detect clinically.

Adult↗
PubMed2003

Tracing blood units to their recipients: results of a two-centre study.

An important principle of the use of blood components is the ability to trace them from the donor to the recipient. This study set out to establish whether there was sufficient documentation in patient case notes to confirm the transfusion of blood components in a sample of computer blood bank records at two large teaching hospitals in UK. The criteria for verification of transfusion were taken from guidelines from the British Committee for Standards in Haematology (Transfusion Medicine 1999, 9, 227-238). The blood bank computer records indicated that 486 units of blood components were issued and not returned to the blood bank for 80 patients during a 2-month period. Of the 486 units, transfusion of 409 units (84%) was verified against patient notes, but 77 units (16%) could not be verified as received by the patient. The study showed that documentation of transfusions was variable. For example, written prescriptions were only found for 204 units (42%). These results have implications for 'lookback studies' involving blood transfusion. Further efforts are required to educate those involved in transfusing blood about the need for accurate documentation.

Blood Banks↗
PubMed2003

Power Doppler ultrasound of rheumatoid synovitis: quantification of therapeutic response.

The aim of this study is to quantify power Doppler assessment of therapeutic response in rheumatoid synovitis. 13 patients (6 male, 7 female) with rheumatoid arthritis, who had an acute exacerbation of small joint synovitis in the hands, were examined with quantitative power Doppler, before and after intravenous corticosteroid treatment. All patients were examined by a single radiologist, using an ATL HDI 5000 ultrasound machine (ATL, Boswell). The images were analysed using a specially developed software package (HDI Lab), which quantifies power Doppler signal. All patients improved clinically following treatment, which was reflected in functional disability scores, and in the C-reactive protein levels and erythrocyte sedimentation rate. In all cases, there was a significant decrease in synovial vascularity as measured by the mean amplitude of signal on quantitative power Doppler. Quantitative power Doppler may allow objective assessment of treatment in small joint synovitis.

Aged↗
PubMed2001

Preoperative blood transfusions for sickle cell disease.

BACKGROUND: Sickle cell disease is one of the most common inherited diseases in the world, and causes haemolytic anaemia, vaso-occlusive crises and dysfunction in virtually any organ system in the body. Surgical procedures are often required. Blood transfusion regimes can be used preoperatively in an attempt to increase transport of oxygen around the body and dilute the sickled red blood cells, thus reducing the risk of vaso-occlusion. OBJECTIVES: To assess the relative risks and benefits of preoperative blood transfusion regimes in patients with sickle cell disease undergoing surgery of any type in any setting. SEARCH STRATEGY: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group specialist trials register which comprises references identified from comprehensive electronic database searches, handsearching relevant journals and handsearching abstract books of conference proceedings. Date of the most recent search: January 2001 SELECTION CRITERIA: All randomised or quasi-randomised controlled trials comparing preoperative blood transfusion regimes to different regimes or no transfusion in patients with sickle cell disease undergoing surgery. DATA COLLECTION AND ANALYSIS: Both reviewers independently assessed trial quality and extracted data from the study included. MAIN RESULTS: Only one trial met the inclusion criteria for the review. The trial compared an aggressive transfusion regime (decreasing sickle haemoglobin to less than 30%) to a conservative transfusion regime (increasing haemoglobin to 10 g/dl) in 604 elective operations in patients with sickle cell disease. The conservative regime was found to be as effective as the aggressive regime in preventing perioperative complications, and was associated with less transfusion related adverse events. No randomised controlled trials were found for transfusion compared to no transfusion. REVIEWER'S CONCLUSIONS: While in general conservative therapy appears to be as effective as aggressive in preparation for surgery in sickle cell patients, further research is needed to examine the optimal regime for different surgical types, and to address whether preoperative transfusion is needed in all surgical situations.

Anemia, Sickle Cell↗
PubMed2001

Screening for extensor tendon rupture in rheumatoid arthritis.

OBJECTIVE: Surgery can prevent extensor tendon rupture in the rheumatoid wrist but it is difficult to identify patients at risk. Extensor digiti minimi (EDM) usually ruptures first, but rupture may pass unnoticed because extensor digitorum communis (EDC) extends all four fingers simultaneously. We assessed the value of screening for EDM rupture by examining for absent independent extension of the little finger in a hospital rheumatoid arthritis population. METHODS: The EDM test was performed in 550 previously unoperated wrists. Disease activity, joint damage, wrist swelling, tenderness and crepitus were recorded. RESULTS: Unsuspected EDM loss was found in nine of the 550 wrists (1.6%); dorsal synovitis was absent or minimal in eight and ulnar tenderness was absent in six. EDM loss was not associated with activity, severity or duration of disease. CONCLUSIONS: The EDM test is simple and cheap. It may identify patients at risk and permit prophylactic surgery before hand function is lost.

Arthritis, Rheumatoid↗
PubMed2001

Developing a District Health Information System in South Africa: a social process or technical solution?

South Africa initiated a national District Health Information System rollout strategy in the latter half of 1999. Experience has demonstrated that the implementation of an information system as a vehicle for the delivery of accountability in the management of health services, demands organisational change within a framework of human resource development and technical support. The aim of training, to empower facility and district staff to use locally generated information to improve coverage and quality of primary health care services, can only be realized if training and innovation for change are appropriately marketed and supported. The appeal of HISP software, a locally developed application system lies in its user acceptance. While computers form a vital tool in providing easily accessible information for decision-making, their use must not be seen as a panacea for all information problems in primary health care services. Strategies for promoting sustainability of DHIS implementation lie in the social processes of human resource development, changing organisational infrastructure and the use of ongoing evaluation rather than those of technical infrastructure. South Africa has developed a variety of mechanisms to facilitate this process.

Community Networks↗