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Biomedical subjects

R MacFarlane

Publications and source records attributed to R MacFarlane.

7 recordsLinked to original sources

Management of the patient and family with neurofibromatosis 2: a consensus conference statement.

A consensus conference on neurofibromatosis 2 (NF2) was held in 2002 at the request of the United Kingdom (UK) Neurofibromatosis Association, with particular emphasis on vestibular schwannoma (VS) surgery. NF2 patients should be managed at specialty treatment centres, whose staff has extensive experience with the disease. All NF2 patients and their families should have access to genetic testing because presymptomatic diagnosis improves the clinical management of the disease. Some clinical manifestations of NF2, such as ocular abnormalities, can be detected in infancy; therefore, clinical screening for at-risk members of NF2 families can start at birth, with the first magnetic resonance (MRI) scan at 10-12 years of age. Minimal interference, maintenance of quality of life, and conservation of function or auditory rehabilitation are the cornerstones of NF2 management, and the decision points to achieve these goals for patients with different clinical presentations are discussed.

Adult↗

Clinical databases and data protection: are they compatible?

In the current climate of clinical governance and audit, and in the setting of an active academic unit, an effective clinical database is an invaluable tool. In this article, we will present our neurovascular database, discuss the issues related to setting up the ideal clinical database, discuss the problems related to accurate data input and review the legal requirements of data protection. The success of a clinical database is reflected by the completeness of the data, the accessibility of the information and how useful it has proven to be. After 4 years of experimentation we currently use a database designed on Microsoft Access. The form is a single page. Junior medical staff input the information as medical staff have been found to be the most reliable personnel for data input in terms of accuracy. However, time is generally in short supply amongst this group. For our purposes, the ideal database is one that is simple, that can be used to flag up cases, rather than provide all of the information and ensures a complete dataset. The arrival of the UK 1998 Data Protection Act has put many clinical databases and registries in jeopardy, and introduced further bureaucracy to research. We discuss the Act and its interpretation by the General Medical Council, Medical Research Council, British Medical Association, Department of Health and our own trust with respect to databases and research.

Cerebrovascular Disorders↗

Prognosis for recovery of bladder function following lumbar central disc prolapse.

From a retrospective review of 932 patients undergoing surgery for prolapsed lumbar intervertebral disc a group of 33 cases with acute urinary retention was studied. There was no identifiable factor which predisposed this subgroup of patients to cauda equina compression. The mean duration of bladder paralysis prior to operation was 3.6 days. Ultimately almost 79% of patients claimed full recovery of bladder function, but only 22% were left without sensory deficit in the limbs or perineum. There was no correlation between recovery and the duration of bladder paralysis before surgery, except in three patients in whom there was no sciatica and where the correct diagnosis was delayed for many days. Retention developing less than 48 h after an acute prolapse was associated with a poorer prognosis. Despite claims that bladder paralysis should be treated with the same urgency as an extradural haematoma, there is no evidence in this study or in the literature to support the view that emergency surgery has any bearing upon the degree of clinical recovery. The exception may be if decompression can be undertaken within 6 h, the time estimated for axonal ischaemia to become irreversible. This should not however engender complacency in the management of this condition, which still requires prompt treatment. Whilst any apparent delay to surgery may have medicolegal implications should the patient fail to recover completely, in the majority of cases the die is cast at the time the prolapse occurs.

Adolescent↗

The Pavlik harness: results in patients over three months of age.

The role of the Pavlik harness in the treatment of congenital dislocation of the hip in 122 patients over 3 months of age is presented. There were 21 patients with hip dislocation and 101 patients with hip dysplasia, with an average age of 5 months. In patients with dysplasia, concentric reduction in the harness was obtained initially, while it took 1 to 4 weeks to achieve reduction in the dislocated hips. The overall success rate was 97%, with no incidence of avascular necrosis. In three patients, the harness did not succeed in reducing the hips, and alternative methods were used with uneventful course. At follow-up, which averaged 5 years, clinical and radiographic examinations were normal in every patient.

Braces↗

The isolation and partial characterization of low-molecular-weight phosphorylated component of the non-histone proteins of mouse nuclei.

After labelling of mouse liver nuclei with [gamma-32P]ATP in vitro, 10-20% of the radioactivity incorporated into the saline-soluble nuclear and HAP2 chromatin fractions was located in a low-molecular-weight component (component 10) with pI near 4.5 in urea. By using combinations of ion-exchange chromatography, preparative thin-layer isoelectric focusing and gel filtration, this component was isolated from both nuclear fractions. Recovery from the saline-soluble fraction was poor under conditions that allow endogenous phosphatases to be active. Component 10 was shown to be a phosphoprotein on the basis of enzyme-digestion experiments and the detection of phosphoserine and phosphothreonine. The 32P radioactivity did not appear to be associated with phosphorylated basic amino acids. Its molecular weight was determined by gel chromatography and electrophoresis in sodium dodecyl sulphate/polyacrylamide gels as approx. 10000, and tryptic digestion of the reduced carboxymethylated protein in urea yielded two 32P-labelled peptides. It has not been possible as yet to assign a function to component 10, though its similarity to other low-molecular-weight acidic proteins is discussed.

Amino Acids↗