The potential of emergency department injury surveillance data: an illustration using descriptive analysis of data in 0-4 year olds from the Bath injury surveillance system.

OBJECTIVES: To illustrate the potential of injury surveillance data from an emergency department surveillance system. SETTING: Bath clinical area. METHODS: Data for children (0-4 years old) resident in Bath city in UK were recoded and analysed. RESULTS: There were a total of 3144 attendances and 2300 unintentional injuries - equivalent to an attendance rate of 131/1000. There were 91 thermal injuries and 162 poisoning/ingestions. Descriptive information is presented on the circumstances and consequences. CONCLUSION: The majority of unintentional injuries in 0-4 year olds occur in the home, which is a modifiable environment. Detailed information around the circumstances available from the Bath injury surveillance system allows better focus for prevention messages and priority setting.

Attributions, strain and depression in carers of partners with MND: a preliminary investigation.

Further examination of the data of Goldstein et al. (J Neurol Sci 160 (1998) S114) on the impact of MND in their spouses/partners on 19 caregivers investigated whether carers' depression and strain scores could be related to their attributional style. Contrary to expectations, carers' scores on a measure of depressed mood were not correlated with measures of internal/external, stable or global attributions. However, perceived strain was greater in carers who viewed their partners' illness as having a more global impact on their lives, and was related to self-perceived control over their thoughts about their partner. Female carers anticipated experiencing less strain and distress in the following year than male carers, even though they did not differ in current strain levels. Male and female carers received similar numbers of formal services. The availability of informal support (family and friends) was associated with reduced anticipation of future strain and distress and with reduced perception of the pervasive impact of their partners' MND on their lives.

The psychological impact of MND on patients and carers.

Nineteen patients with Motor Neurone Disease (MND) who had been living with their partners for at least two years prior to the onset of their illness, together with their partners, completed self-report questionnaires to investigate the impact of MND on both patients and carers. Physical disability and impact of the illness on aspects of everyday functioning were related to levels of anxiety and depression in the patients; psychological coping strategies adopted depended to some extent on symptom duration. Carers also demonstrated signs of anxiety and depression, with the latter correlating with aspects of the patients' functional impairment. Perceived strain in carers over caring for the patient correlated with a loss in intimacy in their relationship, which in turn was predicted by patients' cognitive/behavioural and communication changes. Changes in patients' social performance also correlated with the extent to which carers felt that the illness was affecting other areas of their life, the extent to which their partner dominated their thoughts and the extent to which they could control their reactions when thinking about the patient. Satisfaction with formal services and the number of social groups to which carers belonged correlated with carers' self-predicted future ability to cope.

Grief and mid-trimester fetal loss.

Fetal loss through miscarriage or termination of pregnancy for genetic reasons often provokes the grief of bereavement. This is not fully understood, and the extent of the distress is often underestimated by professionals and family alike. We have examined elements of the normal bereavement process and have found that they may occur in specific and accentuated forms in mid-trimester fetal loss. We discuss our findings in the light of the attachment theory--a psychodynamic model for understanding grief reactions.

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.

Using 10 overlapping nested sets of primers and using peripheral blood lymphocyte (PBL) total RNA as template, we have developed a system, based on PCR, which allows the rapid production of double-stranded cDNA corresponding to the entire coding sequence of the dystrophin gene. The product can be visualized on native minigels by ethidium staining and directly sequenced after gel purification. We have used this system to analyze the structures of PBL dystrophin mRNA in 26 Duchenne, Becker, or intermediate muscular dystrophy patients who have gross rearrangements of the dystrophin gene. In each case, the effect that the genomic rearrangement has on the structure of the transcript--and, by inference, on the dystrophin protein--has been determined, and the results confirm the frameshift hypothesis. The study also identifies a series of alternatively spliced transcripts which are specific to the rearranged genotypes and which seem therefore to arise following the alteration in the context of the splice signal. The system has been used for unambiguous identification of carrier females. Furthermore, the rapid production of microgram quantities of dystrophin cDNA from a readily accessible tissue makes point-mutation screening a practical proposition.

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA.

Rapid detection of deletion and duplication mutations that cause Duchenne and Becker muscular dystrophy was achieved in patients and carriers after amplification of small amounts of mRNA from peripheral blood lymphocytes. The entire coding region of the dystrophin mRNA was amplified in 10 sections by reverse transcription and nested polymerase chain reaction, and the products were directly visualised on acrylamide minigels with ethidium staining. Major structural gene mutations were identified by the appearance of a band of different size to that of the wild type. The altered band was readily detected in all patients and heterozygous relatives. This non-radioactive test of venous blood samples can be used for unambiguous and rapid identification of virtually all carriers of deletions or insertions within the dystrophin gene.

A 45,X/69,XXY fetus.

Post-mortem examination of a 20-week fetus showed incompletely masculinised external genitalia, hypoplastic adrenal glands and minor physical stigmata suggestive of a chromosome abnormality. Gonad and skin were karyotyped and both were found to contain two cell lines, 45,X and 69,XXY. It appears this fetus is a true 45,X/69,XXY mosaic.