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Biomedical subjects

R Charlton

Publications and source records attributed to R Charlton.

At least 19 recordsLinked to original sources
PubMed1998

The diagnosis and initial treatment of asthma in young children in New Zealand and the United Kingdom.

AIMS: To conduct a pilot study to test methodology in ascertaining if there are differences between New Zealand and the UK in the symptom and circumstance set that influences a general practitioner in the initial diagnosis of asthma, and to ascertain the treatment prescribed at the time that the diagnosis is made. METHODS: Questionnaires were mailed to 110 general practitioners in each country. General practitioners from the Otago region in New Zealand and from the Nottingham region in Britain were contacted. A follow-up reminder was sent to all non-responders three weeks after the initial mail out. Questions were asked about the symptoms and signs that were considered important, as well as other influences (e.g., passive smoking) when making a diagnosis of asthma in a child under the age of five years. The doctors were also asked what treatment they prescribed at the time of the actual diagnosis of asthma. RESULTS: British doctors considered night cough (p = 0.05) and cough associated with emotion (p = 0.004) more diagnostic of asthma. New Zealand doctors rated cough associated with temperature change (p = 0.05) as being important and they had a lower threshold in diagnosing asthma with respect to history of similar attacks (p = 0.008) compared to their British counterparts. More New Zealand doctors reported using prophylactic/anti-inflammatory agents as first line therapy (59% vs 28%; p = 0.002). CONCLUSIONS: We conclude that there are only minor differences in general practitioners' diagnostic criteria for asthma in the two countries with reference to this small sample. We believe, however, that differing diagnostic criteria could account for different reported incidences of childhood asthma in some countries. There is need for internationally accepted diagnostic criteria.

Asthma↗
PubMed1998

Meningococcal disease. Is early diagnosis possible?

Meningococcal disease is a public health problem because of its high mortality and is one disease that many GPs have not seen. Case reports illustrate that presentation is rarely classic 'meningitis' and further research is required to enable earlier detection.

Child↗
PubMed1997

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.

Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual families. Here, we report nine novel mutations in L1 in 10 X-linked hydrocephalus families. Four mutations truncate the L1 protein and eliminate cell surface expression, and two would produce abnormal L1 through alteration of RNA processing. A further two of these mutations are small in-frame deletions that have occurred through a mechanism involving tandem repeated sequences. Together with a single missense mutation, these latter examples contribute to the growing number of existing mutations that affect short regions of the L1 protein that may have particular functional significance.

Amino Acid Sequence↗
PubMed1997

Altered monocyte calcium dynamics in sepsis.

PURPOSE: This study was designed to evaluate monocyte calcium concentration and mobilization in normal and septic surgical patients. METHODS: Monocytes were isolated from 15 "septic" surgical patients, washed, and loaded with the fluorescent calcium chelator, FURA-2. Monocytes from 20 normal volunteers served as controls. Intracellular calcium concentration ([Ca2+]i) was measured by means of fluorescent spectrophotometry before, during, and after stimulation with concanavalin A. Differences were evaluated for statistical significance by analysis of variance. The study was repeated using normal monocytes preincubated in "septic" serum and "septic" monocytes preincubated in normal serum. Additional paired whole blood specimens were obtained from the control group and were incubated with Escherichia coli endotoxin. Monocytes were then isolated and evaluated as described. RESULTS: Sepsis was associated with significantly low resting monocyte calcium concentrations. Although concanavalin A stimulation resulted in marked calcium mobilization in both normal and septic cells, final cellular calcium concentration was significantly lower in the stimulated "septic" monocytes. Similar alterations were seen in normal cells incubated with septic serum, but could not be reproduced by incubation with endotoxin. This deficiency could not be corrected in septic cells incubated in normal serum. CONCLUSION: Sepsis is associated with a significant alteration of monocyte calcium dynamics in both resting and stimulated cells. These changes appear to be modulated by a serum factor other than endotoxin.

Adult↗
PubMed1996

Medical education--addressing the needs of the dying child.

This paper reviews the formulation of attitudes, the acquisition of knowledge and the development of skills which together enable medical practitioners to provide comprehensive palliative care for terminally ill children. Ideally, these should be developed to such an extent that a 'good death' can be achieved. Current medical education does not address these areas and the associated issues, including the breaking of bad news, understanding the grief reaction to serious illness and children's perceptions of death. Neither does training include how to take management decisions concerning informed consent, the transition from active treatment to palliative care, symptom control and choosing the place for care. These, and the unintentional attitude that regards the dying child as a 'medical failure', are discussed, together with the need to meet the needs of the parents and siblings, and the effects of bereavement. Finally, recommendations are made for undergraduate curricula and the need to emphasize the relationship of caring for the family unit, and not just the patient.

Attitude to Death↗
PubMed1995

Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2.

A total of 54 YAC clones have been isolated from the region of Xp22.2-p22.3 extending from the amelogenin gene locus to DXS31. Restriction analysis of these clones in association with STS contenting and end clone analysis has facilitated the construction of 6 contigs covering a total of 7 Mb in which 20 potential CpG islands have been located. Thirty new STSs have been developed from probe and YAC end clone sequences, and these have been used in the analysis of patients suffering from different combinations of chondrodysplasia punctata, mental retardation, X-linked ichthyosis, and Kallmann syndrome. The results suggest that (1) the gene for chondrodysplasia punctata must lie between the X chromosome pseudoautosomal boundary (PABX) and DXS1145; (2) a gene for mental retardation lies between DXS1145 and the sequence tagged site GS1; and (3) the gene for ocular albinism type 1 lies proximal to the STS G13. The CpG islands within the YAC contigs constitute valuable markers for the potential positions of genes. Genes found associated with any of these potential CpG islands would be possible candidates for the disease genes mentioned above.

Albinism, Oculocutaneous↗
PubMed1995

Education needs in palliative care.

A literature review confirms a need for improved medical education on death, dying, terminal illness, and bereavement, and so palliative care, from 1900 until the present time in the UK, Australia, New Zealand, USA, and Canada. The origins of the hospice movement and its influence are also discussed. Current palliative care teaching is recorded in a table of the courses initiated in medical schools which demonstrates a lack of formal courses. An appreciation of the issues surrounding these topics is required for the appropriate provision of palliative care, most importantly good communication and symptom control. These together with the issues of development of attitudes towards death, delivering bad news of serious illness, recognition of palliative care as a philosophy, psychosocial aspects of care and counselling the bereaved are included in the recommendations for co-ordinated interdepartmental teaching. This acquisition of knowledge, development of attitudes, and improvement of skills in palliative care can be achieved through the use of small group work and role-play exercises as well as formal lectures and experience at a hospice. Rectification of these curricula omissions will provide future doctors in a caring and competent manner with the ability to permit a dignified and 'good' death for the terminally ill.

Australia↗
PubMed1995

DNA testing for fragile X syndrome in schools for learning difficulties.

Fragile X syndrome is the most common inherited cause of mental retardation. Early diagnosis is important not only for appropriate management of individuals but also to identify carriers who are unaware of their high risk of having an affected child. The disorder is associated with a cytogenetically visible fragile site (FRAXA) at Xq27.3, caused by amplification of a (CGG)n repeat sequence within the gene at this locus designated FMR1. Clinical and molecular studies have been undertaken to screen for fragile X syndrome in 154 children with moderate and severe learning difficulties of previously unknown origin. Southern blot analysis of peripheral blood showed the characteristic abnormally large (CGG)n repeat sequence associated with fragile X syndrome in four of the 154 children. The findings were confirmed by cytogenetic observation of the fragile site and by further molecular studies. The families of the affected children were offered genetic counselling and DNA tests to determine their carrier status. These findings show that there are still unrecognised cases of fragile X syndrome. Given the difficulty of making a clinical diagnosis and the implications for families when the diagnosis is missed, screening in high risk populations may be justified. The issues involved in screening all children in special schools for fragile X syndrome are discussed.

Adolescent↗