Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation.

Aim Marked neutrophilia and omphalitis in an infant resulted in the diagnosis of the first case of leukocyte adhesion deficiency type 1 (LAD1) in Ireland. Diagnosis LAD1 requires specific molecular diagnostics for its correct identification. Results Early identification of this disorder allowed for rapid referral for haemotopoeitic stem cell transplant which has resulted in an excellent outcome for this patient. Conclusion The identification of a previously unknown ITGB2 mutation resulting in LAD1 in Ireland should alert physicians to the diagnostic possibility of this extremely rare disorder.

The effectiveness of radon preventive and remedial measures in Irish homes.

It is estimated that approximately 100 000 Irish homes have radon concentrations above the reference level of 200 Bq m(-3). To minimise the number of new homes with this problem, building regulations require that all new homes built since July 1998 in high radon areas are installed with radon barriers during construction. Measurements on local authority homes in a number of high radon areas have allowed the impact of these new regulations to be assessed. In County Cork a reduction of up to 70% in the mean radon concentration was observed in homes built since 1998 relative to those built before this date. A reduction in both the number of homes exceeding the reference level and the maximum concentration measured in homes was also measured. Homes exceeding the reference level were remediated with the use of an active sump. The results of this remedial work are also presented and show that the mean reduction in radon concentration achieved was 92%.

Referral to physiotherapy as part of a general practitioner's management of back pain.

The aim of this survey was to investigate how general practitioners (GPs) manage their back pain patients and if they refer them for physiotherapy. The research instrument was a self-administered postal questionnaire. This was sent to 580 GPs, one quarter of the GPs in the Republic of Ireland. Two hundred and ninety three questionnaires (n=293)were returned, which constituted a 50.5% response rate. Two hundred and sixty one questionnaires (n=261) were usable. The main findings of the study were that the respondents consider that physiotherapy has a major role in the management of back pain. However there was limited availability of physiotherapy for the GPs' public patients. One hundred and thirteen GPs (over 43% of respondents) have referred back pain patients to alternative practitioners for manipulation. One hundred and forty four respondents (52%) believe that physiotherapists should not treat back pain patients without the patient first consulting their doctor.

Feeling old versus being old: views of troubled aging.

This paper describes the results of an ethnographic study which explored the experiences of aging constructed by five older people, their adult children and a team of health professionals involved in evaluating their health status. Older participants made a clear distinction between being old and feeling old whereas their children did not. None of the five older people, who ranged in age from 69 to 86, identified themselves as old although each of them identified specific and transient episodes of feeling old. Their children, on the other hand, identified the older people as being old when they perceived them as having lost a characteristic which had been a central factor in the children's experiences of them as parents. Contrary to the older people's experience of feeling old as a temporary phenomenon, the children's identification of their parents as old included the understanding that their parents were in a process of inevitable and irreversible decline for which something needed to be done. In an effort to help, the children referred their parents to a geriatric assessment clinic to identify the cause of their problems and to recommend solutions for resolving them. The involvement of the assessment clinic generated yet another construction of the older people's problems. The study explores the impact which these sometimes conflicting views had in unwittingly precipitating an additional burden of trouble for both older people and children. Conversely, the study also demonstrates the power of the participant families' definitions of themselves and their situations to withstand the weight of opposing constructions generated by the clinic staff. Finally, the phenomenon of troubled aging is seen as a feature of the children's experience of their parents' aging rather than as a central aspect of the older people's experience.

Synthesis of somatostatin by breast cancer cells and their inhibition by exogenous somatostatin and sandostatin.

Three human breast cancer cell lines ZR-75-1, MDA-MB-436 and MCF-7 were found to contain respectively, 3.06, 2.69 and 1.86 fmol of somatostatin-like immunoreactivity (SLI) per 10(6) cells. Since SLI is undetectable in the passaging media it must, therefore, be synthesised by the cells. In the presence of fetal calf serum the cells were growth inhibited by addition of somatostatin or its long-lasting analogue, Sandostatin, but only after 3 days of continuous exposure. A 1-day exposure to either peptide had little or no effect on subsequent cell growth in peptide-free medium. Inhibition of cell proliferation is not due to cytotoxic effects of the dose used (500 ng ml-1, each) since both peptides caused short-term stimulation of growth in the absence of serum.

An unusual case of laryngeal carcinoma.

A 62-year-old male patient presented with carcinoma of the larynx which behaved in an atypical fashion clinically. It increased in size rapidly within a period of 5 weeks and clinically presented as a dumbell-shaped neck swelling over the thyroid alae. It had features on plain x-ray, tomography and CT scan which led to the diagnosis of chondrosarcoma of the larynx. After total laryngectomy, it turned out to be a squamous cell carcinoma of the larynx with some unusual histopathological features including bone formation in the tumour.