Behaviour problems in adult women with Rett syndrome

Background Despite considerable interest in the genetic, physical and neurological aspects of Rett syndrome (RS), there have been few studies of associated behavioural and emotional features. Furthermore, few case studiesor surveys have included adult women with RS. The main aim of the present study was to compare behaviour problems in a sample of women with RS against data from normative samples. Methods The primary carers of 50 women with RS completed the community version of the Aberrant Behavior Checklist. Results Women with RS were rated as having lower levels of irritability, hyperactivity and inappropriate speech behaviours than normative samples of adults with intellectual disability. Conclusions A number of factors may affect the presentation of behaviour problems in women with RS (e.g. cognitive impairments or physical disabilities). Therefore, more research is needed in order to generate information about the behavioural phenotype of RS. The implications of the present data for future research are also discussed.     

The management of injuries--a review of deaths in hospital

A prospective review was undertaken of the management of 111 consecutive patients who died in hospital after admission for treatment of injuries. A standard set of data relating to each patient was reviewed by each member of a trauma death audit committee and then by the whole committee. Autopsy reports were available on all patients. Conclusions were drawn concerning defective aspects of patient management and possible avoidance of each death. Injury severity was assessed using the Trauma Score (TS) and Injury Severity Score (ISS). The possibly avoidable death (PAD) rate was 17%. The most common defects in management were related to inadequate fluid resuscitation and delays in definitive management. The greatest contributions to the PAD rate were from inadequate fluid resuscitation, delays and inadequate perception of the severity of injuries or significance of clinical deterioration. Increasing age was related to a higher frequency of PAD. PAD rate in the presence of severe head injury was 8%, but was 63% in the absence of a severe head injury. It is concluded that review of all trauma deaths is an achievable, beneficial and essential part of a hospital-based integrated trauma service. TS and ISS are not sufficiently sensitive to justify their use in selecting deaths for review. Improved blood volume replacement, earlier and more direct management and supervision by senior specialist staff, and elimination of causes of delay in patient management should all decrease the death rate from injuries particularly in patients without severe head injury.     

Biochemical composition of amniotic fluid and extraembryonic coelomic fluid in the first trimester of pregnancy.

OBJECTIVE: To determine the biochemical composition of amniotic fluid and extraembryonic coelomic fluid between 8 and 12 weeks gestation. DESIGN: Prospective observational study. SUBJECTS: 40 women with a normal pregnancy between 7 and 12 weeks gestation having termination of pregnancy. INTERVENTIONS: Before termination the women had a transvaginal ultrasound guided amniocentesis. Pure samples of amniotic fluid and extraembryonic coelomic fluid were obtained from each woman and standard biochemical variables were measured in each fluid sample immediately after collection. RESULTS: Levels of sodium, potassium and bicarbonate were significantly higher in amniotic fluid whilst chloride, urea, bilirubin, protein, albumin, glucose, creatinine, calcium and phosphate were present in higher concentrations in extraembryonic coelomic fluid. All differences in concentration were significant (P less than 0.05; unpaired t-test). No relation was demonstrated between electrolyte concentrations in amniotic fluid or coelomic fluid and stage of gestation. CONCLUSIONS: Amniotic fluid and extraembryonic coelomic fluid have a widely differing biochemical composition. The biological significance of these differences remains unexplained.     

Beta 2 transferrin application in otology.

The diagnosis and management of perilymphatic fistula has received considerable attention in recent years. Despite the use of sophisticated technology, the diagnosis of perilymphatic fistula continues to rest primarily upon clinical suspicion and the exclusion of other disorders. In addition, the confirmation of a perilymphatic fistula during surgical exploration is usually based upon the subjective observation of fluid pooling in niches of the middle ear. A sensitive and objective laboratory test for identifying perilymph in the middle ear would be a useful adjunct for the diagnosis and management of perilymphatic fistula. The objective of this paper is to demonstrate the potential utility of beta 2 (beta 2) transferrin assay in the diagnosis of perilymphatic fistula. To accomplish this objective, we confirmed that beta 2 transferrin is present in living human perilymph and is absent in the normal or inflamed middle ear. In addition, the utility of beta 2 transferrin assay in the diagnosis of cerebrospinal fluid otorrhea is presented.     

Evaluation and audit in a paediatric disability service

Parental and professional responses to questionnaires evaluating a paediatric disability service are reported and the viability of auditing structural, process, and outcome aspects of clinical practice are discussed. Expectations of waiting time to first appointment (met for only 52% of consumers) illustrate structural issues. Process issues are reflected in consumer reactions to outreach work (for example, 94% of parents and 84% of professionals found this supportive). Outcome measures such as consumer satisfaction with the service (76% of consumers reported being 'very satisfied' and 20% 'fairly satisfied') suggest that service aims are being met. Good concurrence of service aims with consumer needs is indicated by parental reasons for referral (for example, 75% for diagnostic help, 73% for a better understanding of the disorder, 88% for practical help), referrers' reasons (for example, 55% for a second diagnostic opinion, 45% due to lack of local expertise), and reports from most other professionals involved with the case that a similar service was not provided locally.     

Relative carriage rates of nuclear dehydrogenating clostridia in two populations of different colorectal cancer risk

Carriage of nuclear dehydrogenating clostridia has been associated with colon cancer and implicated in its aetiology. This study has compared the carriage of these organisms in a British population at high risk for the development of colon cancer with a low risk Nigerian population. Clostridia were found in all of the stools from both populations. Nuclear dehydrogenating clostridia were only found in the stools of the British subjects (32%). These results support the suggestion that the carriage rate of nuclear dehydrogenating clostridia in a population is related to the risk of colon cancer.