PubMed Health⌕ Search

Biomedical subjects

M Rees

Publications and source records attributed to M Rees.

At least 91 records · Page 5Linked to original sources
PubMed1993

Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves.

Benign partial epilepsy with centrotemporal sharp waves (benign rolandic epilepsy, BRE) is a common form of idiopathic, localisation-related epilepsy of childhood. The characteristic age-dependent focal sharp wave (fsw) found on the EEG in this disorder segregates as an autosomal dominant trait in families with probands with BRE and acts as a neurobiological marker for the increased risk of developing BRE, other benign partial epilepsies of childhood, and other developmental disorders in these families. One of the genes for idiopathic generalised epilepsy (IGE), designated EJM1, has been mapped in families with probands with juvenile myoclonic epilepsy, by linkage to the HLA region on chromosome 6. As BRE and IGE are benign, idiopathic, age-dependent epilepsies, EJM1 is a candidate locus for the fsw underlying BRE and related disorders. Genetic linkage analysis was undertaken in 11 families with probands with BRE and one or more first degree relatives with fsw, with or without BRE, using a polymorphic DNA marker within the HLA region. Apparently unaffected individuals were classed as affection status unknown. Assuming autosomal dominant inheritance with a penetrance of 0.9 gave a lod score of -2.3 at zero recombination, excluding the candidate gene region around HLA. These observations exclude an important candidate gene for this common disorder, and suggest a fundamental molecular and genetic distinction between the benign partial epilepsies of childhood and the idiopathic generalised epilepsies.

Adolescent↗
PubMed1993

Benign childhood epilepsy with centrotemporal spikes and the focal sharp wave trait is not linked to the fragile X region.

Benign childhood epilepsy with centrotemporal spikes (BCECS, benign rolandic epilepsy) is a common form of genetically determined localisation-related epilepsy of childhood. The characteristic age-dependent focal sharp wave (fsw) found on the EEG in this disorder segregates as a dominant trait in families with probands with BCECS. Seizures occur in a significant proportion of individuals with the fragile X syndrome in association with EEG abnormalities comparable to those found in BCECS. The possibility of a common genetic basis for these disorders was investigated by linkage analysis. Six pedigrees with probands with BCECS were analysed using a marker locus DXS548, close to the fragile X site, fra (X). Obligate recombinants between DXS548 and the fsw trait were observed in all six families. Assuming X-linked dominant inheritance and penetrance values of 0.4 (male) and 0.1 (female) a negative lod score of -6.823 was obtained at zero recombination and lod scores of -2.0 at 10cM either side of the fra (X) locus. These results exclude an important candidate gene for this common childhood disorder.

Adolescent↗
PubMed1993

Use of Blount's epiphyseal staples to control massive iliac venous haemorrhage.

Significant injuries to major veins are life-threatening events and may lead to patient exsanguination. Treatment usually consists of direct suture repair. A case in which a serious iliac venous haemorrhage was not able to be controlled with the usual surgical procedures is reported. A desperate attempt to achieve haemostasis using orthopaedic staples was successful. The simplicity of this technique makes it a useful addition to the surgeon's armamentarium when dealing with life-threatening venous haemorrhage.

Aged↗
PubMed1993

Molecular genetic evidence for the delineation of a more severe form of familial adenomatous polyposis which results from fresh mutation.

Familial adenomatous polyposis, an inherited pre-malignant condition, is caused by mutation in the adenomatous polyposis coli (APC) gene at chromosome 5q22. The lifetime risk of carcinoma approaches 100%, with an average age at death from cancer of 40 years, allowing most patients to complete reproduction. Since there is no evidence for a rising incidence, this is at variance with an apparently high mutation rate. We present evidence for the delineation of a severe form, which hitherto has largely been maintained by fresh mutation. An atypically high frequency of loss of heterozygosity at chromosome 5q22 in small adenomas correlated with an early age of onset or malignancy in two patients, both due to fresh mutation. In both cases, the mutation in APC was shown to be a commonly occurring deletion, leading us to postulate the co-existence of a modifying gene.

Adenomatous Polyposis Coli↗
PubMed1993

Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.

Evidence for a locus (EJM1) in the HLA region of chromosome 6p predisposing to idiopathic generalized epilepsy (IGE) in the families of patients with juvenile myoclonic epilepsy (JME) has been obtained in two previous studies of separately ascertained groups of kindreds. Linkage analysis has been undertaken in a third set of 25 families including a patient with JME and at least one first-degree relative with IGE. Family members were typed for eight polymorphic loci on chromosome 6p: F13A, D6S89, D6S109, D6S105, D6S10, C4B, DQA1/A2, and TCTE1. Pairwise and multipoint linkage analysis was carried out assuming autosomal dominant and autosomal recessive inheritance and age-dependent high or low penetrance. No significant evidence in favor of linkage was obtained at any locus. Multipoint linkage analysis generated significant exclusion data (lod score < -2.0) at HLA and for a region 10-30 cM telomeric to HLA, the extent of which varied with the level of penetrance assumed. These observations indicate that genetic heterogeneity exists within this epilepsy phenotype.

Adolescent↗
PubMed1993

The use of Coca-Cola in the management of bolus obstruction in benign oesophageal stricture.

Oesophageal stricture is a complication of oesophageal reflux and may itself be complicated by bolus obstruction. We reviewed the records of patients presenting with dysphagia and who were found to have benign oesophageal strictures. We studied the outcome of bolus obstruction in 13 episodes affecting eight patients. In six episodes Coca-Cola was administered on the day before endoscopy, and in all these patients the bolus had cleared. In seven episodes nothing was administered before endoscopy, and in all seven a bolus was evident at endoscopy. In five of these seven the bolus was removed piecemeal and in each of these instances the endoscope had to be passed between two and five times. In the remaining two instances the procedure was abandoned and the patients returned to the ward for the administration of Coca-Cola. At subsequent endoscopy these patients were found to be clear of any bolus. These results suggest that the administration of Coca-Cola (or other aerated drinks) may clear a bolus in the acutely obstructed oesophagus.

Aged↗
PubMed1991

A first study to compare two dosages of dydrogesterone in opposing the 50 mg oestradiol implant.

Thirty post-menopausal, non-hysterectomised women received a 50 mg oestradiol implant subcutaneously and either 10 mg or 20 mg dydrogesterone daily for 14 days every 28 days for 6 months. Endometrial biopsies were taken during the initial oestrogen-only phase and again during the final progestogen phase. Of the ten initial samples which were adequate for histological diagnosis, nine showed proliferative and one non-secretory endometrium. Of the 28 samples obtained at the end of the study during the progestogen phase, all except one showed satisfactory conversion, irrespective of dose. Acceptable bleeding patterns were seen in both dosage groups. Tolerance was good and no patient discontinued treatment. This study has shown that both 10 mg and 20 mg dydrogesterone for 14 days are potent enough to oppose the proliferative effects of the 50 mg oestradiol implant. In view of the wide inter-patient variation in endometrial response to progestogens, it appears appropriate to choose the dosage of dydrogesterone on the basis of cycle control and tolerability, whilst being able to maintain confidence in endometrial protection.

Biopsy↗
PubMed1991

Trans-endoscopic balloon dilatation of benign oesophageal strictures: a prospective study as an out-patient procedure.

Over an 18-month period 70 consecutive patients underwent 100 oesophageal balloon dilatations of their benign peptic strictures by the trans-endoscopic route. All procedures were performed as an out-patient under intravenous sedation. One patient developed respiratory depression from over-sedation. No other complications were seen in this series. The first 50 patients were reviewed by postal questionnaire. The majority (91%) of patients were swallowing normally and all patients except one were happy with the procedure and content to undergo further dilatation should it prove necessary. A cost analysis was performed comparing balloon dilatation with conventional bougienage which is also practised at our hospital. Balloon dilatation as an out-patient procedure is a more cost-effective technique when compared to bougienage and has the potential of saving the health service many thousands of pounds per annum.

Adult↗
PubMed1990

Steps towards cost-benefit analysis of regional neurosurgical care.

OBJECTIVE: To determine the cost of averting death or severe disability by neurosurgical intervention. DESIGN: Retrospective analysis of one year's admissions for neurosurgery; comparison of outcome with expected outcome in the absence of neurosurgical intervention and with the cost of neurosurgery. SETTING: Wessex Neurological Centre. PATIENTS: 1026 Patients were admitted to the neurosurgical service in 1984. Of 1185 admissions, 978 case records were available and outcome was known in 919. MAIN OUTCOME MEASURES: Outcome was assessed with the Glasgow outcome scale, modified as necessary, from the case notes, or by letter follow up to the general practitioner. Expected outcomes for each of the 54 diagnoses were derived from both published reports where available and an expert panel of 18 consultant neurosurgeons. The cost of the neurosurgical service for 1983-4 was known from a separate study and the cost per patient was calculated using the length of stay. RESULTS: The cost of neurosurgery in 1983-4 was 1.8 million pounds. In all, 243 deaths or severe disabilities were estimated to have been averted at an average cost of 7325 pounds (range 5000 pounds to 70,000 pounds). The overall cost per quality adjusted life year (QALY) was 350 pounds (range 34 pounds to greater than 400,000 pounds). The cost of long term care for severely disabled survivors is at least 18-fold greater than the cost of neurosurgical intervention to avert such disability. CONCLUSIONS: In Britain neurosurgery is not expensive in comparison with the costs and benefits of other areas of medicine, and the cost per QALY is unexpectedly low except for severe diffuse head injury, malignant brain tumors, and cerebral metastases. The neurosurgical budget should be assessed in the context of managing a patient in hospital and subsequently in the community.

Brain Diseases↗