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M Reid

Publications and source records attributed to M Reid.

At least 109 records · Page 6Linked to original sources

Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles.

BACKGROUND: The Kell blood group system is complex, consisting of five sets of alleles and expressing high- and low-incidence antigens and at least 11 other independently expressed antigens. The molecular basis of two sets of alleles: KEL1 (K) and KEL2 (k) and KEL6 (Jsa) and KEL7 (Jsb) have been elucidated as single-base mutations leading to amino acid changes. The molecular basis for the KEL3 (Kpa), KEL4 (Kpb), and KEL21 (Kpc) alleles, the KEL11(Cote) and KEL17(Wka) alleles, and for KEL10 (UIa) is now reported. STUDY DESIGN AND METHODS: Genomic DNA from unrelated individuals with KEL:3,-4,-21 [Kp(a+b-c-)], KEL:-3,-4,21 [Kp(a-b-c+)], KEL:17,-11, and KEL:10 (UIa) phenotypes was amplified by polymerase chain reaction (PCR) with primers for the 19 exons of KEL. The PCR products were sequenced and compared to the DNA sequences of a common Kell system phenotype, KEL:-3,4,-21,-17,-10. Base mutations found were confirmed by restriction fragment length polymorphism analysis in which DNA of unrelated persons with similar red cell phenotypes was used. RESULTS: In all cases, single-base mutations were responsible for the expression of the various antigens. In KEL3 (Kpa), KEL4 (Kpb), and KEL21 (Kpc), point mutations at the same codon in exon 8, encoding amino acid residue 281, distinguish the three genes. KEL4 has the CGG codon for arginine, KEL3 has the TGG codon for tryptophan, and KEL21 has the CAG codon for glutamine. KEL17 has a T1025C mutation in exon 8, encoding a valine-to-alanine amino acid change at residue 302. KEL10 has an A1601T mutation in exon 13, encoding a glutamic acid-to-valine change at residue 494. In all cases, the point mutations created restriction enzyme sites, and PCR-based restriction fragment length polymorphisms confirmed that these point mutations occurred in unrelated persons with the same red cell phenotype. CONCLUSION: Single-base substitutions characterize the KEL3, KEL21, KEL17, and KEL10 genes. The allelic relationship of KEL3, KEL4, and KEL21 was confirmed because the mutations occur in the same codon, expressing different amino acids. PCR-based restriction fragment length polymorphisms can be used to distinguish genotypes.

Alanine↗

Attitudes towards termination for fetal abnormality: comparisons in three European countries.

Attitudes towards termination for a range of genetic conditions were studied in health professionals and lay people in three European countries: Germany, Portugal and the UK. The health professionals consisted of geneticists in all countries and additionally obstetricians from Portugal and the UK. The lay persons consisted of pregnant women, and male and female non-medical university employees. In all, more than 1,700 study participants completed questionnaires. Overall, health professionals were more likely than the lay persons to report that they would opt for termination following diagnosis of a fetal abnormality. Differences were found between countries and study groups. German respondents were least likely to report that they would undergo termination in the case of a fetal abnormality while Portuguese respondents were most likely to report that they would undergo a termination. Further studies are needed to determine first the extent to which differences between health professionals and lay samples reflect a difference in perception of disability, including tolerance of having a child with a disability; and second, whether such differences result in health professionals presenting termination of pregnancy in a way that is not concordant with patients' value systems.

Abortion, Induced↗

Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene.

The human RH locus appears to consist of two structural genes, D and CE, which map on the short arm p34-36 of chromosome 1 and specify a most complex system of blood-group genetic polymorphisms. Here we describe a family study of the Evans (also known as "D..") phenotype, a codominant trait associated with both qualitative and quantitative changes in D-antigen expression. A cataract-causing mutation was also inherited in this family and was apparently cotransmitted with Evans, suggesting a chromosomal linkage of these two otherwise unrelated traits. Southern blot analysis and allele-specific PCR showed the linkage of Evans with a SphI RFLP marker and the presence of a hybrid gene in the RH locus. To delineate the pattern of gene expression, the composition and structure of Rh-polypeptide transcripts were characterized by reverse transcriptase-PCR and nucleotide sequencing. This resulted in the identification of a novel Rh transcript expressed only in the Evans-positive erythroid cells. Sequence analysis showed that the transcript maintained a normal open reading frame but occurred as a CE-D-CE composite in which exons 2-6 of the CE gene were replaced by the homologous counterpart of the D gene. This hybrid gene was predicted to encode a CE-D-CE fusion protein whose surface expression correlates with the Evans phenotype. The mode and consequence of such a recombination event suggest the occurrence, in the RH locus, of a segmental DNA transfer via the mechanism of gene conversion.

Adult↗

Knowledge of lymphoedema among primary health care teams: a questionnaire survey.

Lymphoedema usually develops following surgery or radiotherapy for cancer, but can also occur in advanced malignant disease or be primary in origin. Lower limb lymphoedema may present particular difficulties in diagnosis, treatment and management. All types of lymphoedema can seriously impair quality of life for those affected. This study aimed to determine the level of knowledge among primary health care team members concerning the identification and management of patients at risk of developing lymphoedema, the current treatment options available for patients with established lymphoedema, and the awareness of local services available within the Cambridge Health District. A postal questionnaire survey obtained an 84.3% response rate. Many primary health care professionals were not aware of some important issues in the prevention and management of lymphoedema. This information proved useful in enabling the specialist service to develop appropriate educational initiatives.

Clinical Competence↗

[Measurement of total serum IgE by enzyme immunoassay with three commercial reagents].

We measured total serum IgE in 14 patients with allergic diseases and 16 healthy subjects, using three commercial ELISA kits. The correlation of results among the three kits was analyzed using Passing and Bablock regression parameters. Results show that measurements of the different kits do not coincide. One kit shows differences using sera from normal subjects. There is no correlation among kits when using sera from allergic patients. It is concluded that it is not possible to determine exactly the amount of IgE using these kits, specially in subjects with elevated levels.

Adolescent↗

Molecular basis of the Kell (K1) phenotype.

K1 (K, Kell) is a strong immunogen; its antibodies can cause severe reactions if incompatible blood is transfused and may cause hemolytic disease of the newborn in sensitized mothers. K1 is a member of the Kell blood group system, which is complex, containing over 20 different antigens. Some of the antigens are organized in allelic pairs of high and low prevalence whereas others are independently expressed. K1, which is present in 9% of the population, is antithetical to the high-prevalence K2 (k) antigen. We have determined the molecular basis of the K1/K2 polymorphism by sequencing the 19 exons of the Kell gene (KEL) of a K1/K1 person. Polymerase chain reaction was performed on genomic DNA isolated from peripheral blood and the amplified products were either directly sequenced or subcloned and sequenced. Comparisons of K1/K1 and K2/K2 DNA showed a C to T base substitution in exon 6 that predicts a threonine to methionine change at amino acid residue 193. This amino acid substitution occurs at a consensus N-glycosylation site (Asn. X. Thr) and probably prevents N-glycosylation, leading to a change in phenotype. The C to T substitution creates a Bsm I restriction enzyme site, which was tested in 42 different samples to confirm that this base change identifies the K1/K1 genotype. This test differentiates genotypes, K1/K1, K2/K2, and the K1/K2 heterozygote and should prove useful in the prenatal diagnosis of K1-related hemolytic disease of the newborn.

Amino Acid Sequence↗

Effects of carbohydrate intake on subsequent food intake and mood state.

The effects of a sucrose drink (160 kcals/40 grams of cane sugar) on mood state (Profile of Mood States) were examined over time in a between-subjects, blind placebo design. Orosensory factors were virtually eliminated due to the prior use of a benzocaine anaesthetic lozenge. The ingestion of sucrose failed to have any substantial effect on mood immediately after intake or 30 and 60 min thereafter, although two female subjects reported an increase in energy at 30 min. There was no evidence that the carbohydrate preload increased hunger or eating, rather a delay in food intake was noted subsequent to the ingestion of sugar which was not found following ingestion of saccharin or water.

Adolescent↗

Changes in midwives' attitudes to their professional role following the implementation of the midwifery development unit.

OBJECTIVE: to examine changes in midwives' attitudes to their professional role following the implementation of the midwifery development unit (MDU). DESIGN: prospective cohort study. SETTING: the MDU is based at a major teaching hospital in Glasgow, UK. The MDU midwives provide care via a new self-rostering system which is intended to improve continuity of care. Midwives aim to provide total care for each woman from the antenatal period through delivery and the postnatal period. PARTICIPANTS: 21 midwives who joined the MDU were compared with a group of 64 midwives at the hospital who were also eligible and who continued in their usual pattern of work (non-MDU midwives). MEASUREMENTS: an audit questionnaire was distributed to MDU and non-MDU midwives prior to the implementation of the unit and about 15 months afterwards. In addition, the MDU midwives were sent the questionnaire every three months. Extra questions were added at each time period in order to identify specific problems. This information was then fed back to the midwifery management team to aid in the planning and implementation of the care programme. FINDINGS: the MDU midwives experienced a significant positive change in attitudes; no significant change was evident for the non-MDU group. There was no evidence of increased stress in the MDU midwives. In general, both groups of midwives had positive attitudes towards the unit and felt that MDU-style care had a role to play in the future provision of maternity care. A number of areas of concern were also highlighted, such as the system of liaison with colleagues. CONCLUSIONS: innovative models of midwifery care such as an MDU can have a positive impact on midwives' attitudes towards their professional role. IMPLICATIONS FOR PRACTICE: if change is managed in a systematic manner which involves the midwives, it may be possible to increase midwives' professional satisfaction, while at the same time minimising any negative effects such as increased stress.

Adult↗

Molecular basis of the K:6,-7 [Js(a+b-)] phenotype in the Kell blood group system.

BACKGROUND: The Kell blood group system consists of at least 21 antigens. KEL6(Jsa) is a low-incidence antigen that has an antithetical relationship with the high-incidence KEL7(Jsb) antigen. The molecular basis of KEL6 that appears in less than 1.0 percent of the general population, but in up to 19.5 percent of African Americans, was unknown. STUDY DESIGN AND METHODS: Nineteen exons of the Kell gene (KEL) were amplified by polymerase chain reaction (PCR) assays of genomic DNA obtained from individuals with K:6,-7 [Js(a+b-)] phenotype. The PCR products were sequenced. A comparison was made of the sequence of the PCR products and the sequence of K:-6,7, the common phenotype. RESULTS: KEL from individuals with the K:6,-7 phenotype had two base substitutions in exon 17. One was a missense mutation (T-to-C base substitution) at nucleotide (nt) 1910, which predicts an amino acid change from leucine to proline; the other was a silent substitution (A-to-C) at nt 2019. The T-to-C substitution eliminated a restriction site for Mnl I, whereas the A-to-G substitution eliminated a Dde I site. Analyses of exon 17 in seven unrelated persons with K:6,-7 phenotype by Mnl I and Dde I enzymes showed the expected presence of restriction fragment length polymorphisms. CONCLUSION: The base substitutions T-to-C at nt 1910 and A-to-G at nt 2019 are unique to KEL6. The predicted Leu-->Pro change may disrupt the alpha-helical structure and thus form the epitope for KEL6.

Alleles↗

At(a-) phenotype: description of a family and reduced survival of At(a+) red cells in a proposita with anti-Ata.

BACKGROUND: There is a paucity of data on the August (At) blood group antigen and clinical significance of anti-Ata. STUDY DESIGN AND METHODS: A proposita with the At(a-) phenotype was identified by the finding of anti-Ata in the cord blood eluate of her fifth live infant. Family members were studied, and a small aliquot of 51Cr-labeled At(a+) red cells was transfused to determine survival. RESULTS: There was no evidence of hemolytic disease of the newborn, as determined by the normal hemoglobin and bilirubin and normal clinical conditions. Six of seven siblings were tested, and two At(a-) female siblings were identified. In contrast to the proposita, neither sister had detectable anti-Ata in her serum, although each has had only one pregnancy. A monocyte monolayer assay performed on serum from the proposita gave a result of 20-percent hemolysis (normal, <3%), which is consistent with a clinically significant antibody. Transfusion of a small volume of allogeneic red cells that were phenotypically matched with the proposita, except for Ata, resulted in a 1-hour survival of 95 percent, but a 24-hour survival of only 18 percent, of the transfused cells. The survival pattern was exponential, which is characteristic of a non-complement-binding IgG antibody. CONCLUSION: Despite the absence of hemolytic disease of the newborn, this example of anti-Ata would appear to be a clinically significant antibody for the purposes of transfusion practice. Therefore, approaches to the management of clinical situations in which transfusion is required or likely should focus on the availability of autologous cells or frozen allogeneic At(a-) red cells.

Black People↗

Development of highly specific monoclonal antibodies for the diagnosis of Vibrio cholerae 01.

We report here the development of two monoclonal antibodies, termed 5G8 and 5C12, belonging to the IgM and IgG1 class, respectively, suitable for the identification of Vibrio cholerae 01 in clinical and environmental samples. The specificities of the monoclonals were evaluated by ELISA and indirect immunofluorescent microscopy of microorganisms normally present in stool samples and with two bacterial panels. One panel included 72 potentially antigenically related bacterial strains and the second panel included 20 pathogenic bacterial strains involved in diarrhea cases. The results of these extensive analyses indicate that monoclonal antibodies 5G8 and 5C12 are highly specific and suitable for the clinical diagnosis of Vibrio cholerae 01 in human stool samples by indirect immunofluorescent microscopy. Although the antigenic sites recognized by these antibodies were not identified in this study, the observation of Western blot patterns suggested that 5G8 and 5C12 monoclonal antibodies bind to LPS epitopes, a good structural marker for the detection of V. cholerae 01 because it is present in all bacterial cell walls.

Animals↗

A continuous quality improvement effort.

A new method of delivering patient care was implemented on a Critical Care Unit when it was discovered that a large percentage of patients required respiratory care. A task force redesigned staffing to include a Respiratory Care Practitioner (RCP) and a patient/housekeeping aide. It was found that 67% of tasks could be delegated to RCPs, so an intensive inservice concentration on delegating skills was provided for all.

Critical Care↗

"Healthy alliances?"--other sexual health services and their views of genitourinary medicine.

OBJECTIVE: To assess health professionals' views of genitourinary medicine (GUM) services in a large UK city and to determine potential intervention measures for change. METHODS: A postal questionnaire was sent to 205 service providers in a range of sexual health services in Glasgow, including GUM specialist doctors, nurses and health advisers. The questionnaire included structured questions about organisation and use of GUM services, assessment of profile and stigma, and asked about factors most likely to influence future service development. RESULTS: 128 questionnaires were returned from areas throughout the city. Non-GUM health professionals had poor factual knowledge about the organisation of GUM services. GUM had a poor profile compared with other sexual health services and stigma was thought to exist about the service. Most non-GUM service providers continue traditionally to regard GUM mainly as a referral centre for a few specific sexually transmitted infections and not as a centre for holistic sexual health care. Genital chlamydial infection and pelvic inflammatory disease were considered low priority for GUM referral by some groups of service providers. These views contrasted with those working in the speciality. There was generally poor professional contact between GUM and other service providers involved in sexual health. Most indicated that greater levels of information and publicity, increased professional contact, and a broader range of services within GUM were important for future service development. CONCLUSIONS: The response to the questionnaire strongly indicates that there is poor awareness of and consequently suboptimal use of the full range of services offered by GUM. Potential interventions to address this need include increased cross-speciality collaboration and targeting of specific groups of service providers involved in sexual health care. Important groups include hospital-based specialists and voluntary agencies as well as general practitioners. There is a clear need to project the broad range of sexual health services offered by GUM, and to emphasise the role of GUM in managing specific sexual health problems including several sexually transmitted infections.

Adult↗

Scottish neonatal intensive care units; a study of staff and parental attitudes.

The study takes a three stage approach to review Scottish unit policies, staff views and parents experiences of visiting and involvement with their low birthweight infant (1,750 gm or less) in a sample of Scottish neonatal intensive care units (NICUs). The study indicated that while most units had 'liberal' views regarding parental and family visiting some staff views were not in line with their unit policy and retained reservations about family visiting. Many parents reported visiting daily despite considerable 'social' and real costs. Unit differences emerged regarding the degree of parental involvement as measured by tasks carried out.

Adult↗