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Biomedical subjects

K P Dawson

Publications and source records attributed to K P Dawson.

At least 19 recordsLinked to original sources

The geographic distribution of cystic fibrosis mutations gives clues about population origins.

UNLABELLED: Information regarding three of the more common cystic fibrosis mutations is presented (delta F508, G542X, N13031K) to support the concept of a geography associated with cystic fibrosis mutations. We present the hypothesis that a knowledge of the geography of cystic fibrosis mutations is important for an understanding of genotype-phenotype correlations, gene flow, historical population migration and cystic fibrosis screening. CONCLUSION: A new method of study of mankind's cultural spread is being revealed and the survival of the various mutations supports the concept that they may provide a selective advantage to the carrier.

Africa↗

Group A streptococcal throat colonization is a dynamic phenomenon.

In order to gain knowledge about the nature of group A streptococcal throat colonization of asymptomatic children, we studied a cohort of healthy children selected at random. Those with throat cultures positive for group A Streptococci (GAS) were followed for 5 weeks. Repeat throat swabs were obtained at weekly intervals for antigen detection and culture. GAS obtained were serotyped for T antigen. Twenty-two children were identified as having GAS and 50% had a positive antigen test and culture at least five times in 6 weeks. There was no consistent pattern in the typeable organisms. Most individuals had more than one T-type alternating with non-T-typeable organisms. We conclude that colonization may be a dynamic process involving numerous organism serotypes, which wax and wane.

Antigens, Bacterial↗

Bartter syndrome: an overview.

The term Bartter syndrome denotes a group of renal diseases which share a common denominator of hypokalaemia and metabolic alkalosis. The patch-clamp technique has made possible the analysis of single ion channels, improving our understanding of the molecular physiopathology of all the 'Bartter-like' syndromes. Genetic mapping of each defect has further clarified the mutations involved and the possible modes of inheritance. This improved understanding has opened new avenues for therapy, improving mortality and morbidity in these patients. Another group of illnesses, the 'pseudo-Bartter syndrome', may produce a hypokalaemic metabolic alkalosis without primary renal disease. The underlying illness needs to be identified and treated.

Bartter Syndrome↗

Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G).

Genotype-phenotype analyses in cystic fibrosis (CF) have shown that cystic fibrosis transmembrane conductance regulator (CFTR) genotypes can predict pancreatic status but that correlations with pulmonary status remain elusive. We investigated the extent and severity of lung disease associated with CFTR mutation S549R (T-->G). This mutation is localized in intron 11 (nucleotide-binding fold 1 of the CFTR protein) and had so far been described as a private mutation only. It is associated with an extremely severe overall CF phenotypic expression. Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T-->G). A diversity of pulmonary changes included marked hyperinflation in early infancy in conjunction with inflammation of the interstitium. After 2 years of age, signs of central airway involvement occurred in association with early signs of pulmonary hypertension. In conclusion, although there is some diversity in the radiological findings of these CF patients, R549 is a very severe allele associated with extreme lung disease and rapid pulmonary decline.

Child, Preschool↗

Genotype-phenotype correlations in cystic fibrosis: clinical severity of mutation S549R(T-->G).

With a view to assessing genotype-to-phenotype correlations in cystic fibrosis (CF), the clinical presentation of CF children from the United Arab Emirates (UAE) who were homozygous for cystic fibrosis transmembrane conductance regulator (CFTR) mutation S549R(T-->G was investigated. This mutation is localized in intron 11 (nucleotide binding domain 1 of the CFTR protein) and had so far been described as a private mutation only. The associations between the R549/R549 genotype and 20 outcome variables, including age at diagnosis, sweat chloride concentrations, growth percentiles, meconium ileus, pancreatic sufficiency, pulmonary disease, associated complications and micro-organism colonization were examined in a group of 15 CF children (9 females and 6 males). Mean current age and age at diagnosis were both low (5.4+/-3.5 and 1.0+/-1.1 yrs, respectively). Although none of the 15 CF patients had presented with meconium ileus at birth, all were pancreatic insufficient and had very severe lung disease, with a high rate of Pseudomonas aeruginosa and Staphylococcus aureus. Two patients died during the course of this investigation (one was 5 months and the other, 6 yrs old). The clinical presentation associated with S549R(T-->G) homozygosity in the United Arab Emirates is quite homogeneous and shows an extreme degree and course of cystic fibrosis severity.

Child, Preschool↗

Safer roads for children in the United Arab Emirates.

A study was conducted to obtain a representative view of the parents of primary school children regarding which strategies should be employed to reduce the toll of road traffic accidents in the United Arab Emirates. A cross-sectional population-based study was conducted in Al-Ain, UAE, in which parents were asked to give their suggestions on how to make the roads safer for their children. Strategies aimed at reducing vehicle speed, improved personal driving, adherence to existing rules, and driver and pedestrian education were regarded as paramount. There is widespread awareness of road safety problems in the country and the public appears ready to accept major safety initiatives by government agencies.

Accidents, Traffic↗

A complaints management system: strengths and weaknesses.

AIMS: To describe the complaints management process in a base hospital and to outline its guiding principles. METHOD: A review and analysis of the complaints lodged during 1996 with the Complaints Management System of the hospital. RESULTS: There were 146 complaints lodged after 132,400 patient contacts. Overall resolution time was 14 days, but 24 appeals were lodged against the initial opinion and were all subsequently resolved satisfactorily. CONCLUSION: The complaints process should be user friendly, result in a quick response and be seen as a quality rather than a disciplinary tool.

Female↗

alpha-Thalassaemia due to a single codon deletion in the alpha1-globin gene. Computational structural analysis of the new alpha-chain variant. Mutations in brief no. 132. Online.

A new unstable alpha-globin chain associated with alpha-thalassemia phenotype has been found in a Spanish patient. Molecular analysis of the alpha-globin gene complex using PCR and non-radioactive single-strand conformation analysis, allowed to identify a new mutation in the second exon of the alpha-globin gene. Direct sequencing of the abnormal fragment revealed a 3 bp deletion, which led to the loss of a single codon corresponding to a Lys (K) residue at position 60 or 61 DK60 or DK61. Theoretical structural analysis, performed by computational methods, indicated that the loss of an amino acid residue at this position disturbed the contact region between the B and E-helices, affecting the overall stability of the molecule. Therefore, the DK60 and DK61 results in a structurally abnormal alpha-globin chain, not previously described, named Hb Clinic, which leads to the alpha-thalassemia phenotype in the heterozygote patient. No abnormal hemoglobin was detected by standard electrophoretic procedures, suggesting that this alpha-globin chain variant is so unstable that it may be catabolized immediately after its synthesis. This mutation was confirmed by PCR using an allele specific primer.

Codon↗

Video recording feedback: a feasible and effective approach to teaching history-taking and physical examination skills in undergraduate paediatric medicine.

Medical educators have always recognized the need to teach and train medical graduates and undergraduates the skills of conducting a consultation. Several authors have established the efficacy of using constructive feedback on videotape of each student's interaction with a patient to teach and enhance such skills. This study reports 'students' perceptions' of the feedback process used in the Junior Paediatric Clerkship at the Faculty of Medicine of the United Arab Emirates University. An unexpected 73% of the respondents believed that self-observation influenced development of their clinical skills. More than 80% said that the feedback from instructors and peers helped them to improve their clinical skills, but they would have liked to have more than one of their consultations recorded and reviewed. It was found that 75% of the students felt that self-critique of their performance made them aware of their strengths and weaknesses and their skills in analysing and evaluating consultations had been enhanced. It was found from Kruskal Wallis one-way ANOVA that the students' professional attitude, empathy, and warmth towards the patients differed highly significantly (P = 0.0062, 0.0089, 0.0007, respectively) from self-assurance, self-confidence and competence. They were also deficient in certain areas of history-taking, interviewing skills, and physical examination techniques and perceived they needed more training in order to be proficient.

Clinical Competence↗

Can we make it better?

The range and nature of patient complaints that resulted from the services provided in Southland base hospital over a 1-year period were studied. The data were assessed in the hope that they would provide new and important information to further develop quality assurance in the hospital service. There were 146 complaints, 15 of which were significant. Ten of these involved clinical care standards. There were 132,400 patient contacts during this time. The most common complaints related to the attitudes of health professionals, as perceived by the patient, and about information and other aspects that pertained to their individual care. These patient complaints did not provide unique information but would be useful if combined with other methods to determine patient dissatisfaction with the service provided.

Hospitals↗

Childhood chronic lung disease in the United Arab Emirates.

We report our observations on the pattern of referral of children with chronic lung disease (CLD) in Al Ain, United Arab Emirates. In a 1-year period 45 children were seen with severe lung disease from an estimated childhood population of 90,000. Bronchiectasis, cystic fibrosis (CF) and congenital lung disorders were the main diagnoses made. The indigenous Arab population who represent half the total population of the district appear to be at particular risk of severe lung disease. Chest X-ray and high resolution computerized tomography (CT) were the most commonly used imaging investigations to reach a diagnosis.

Adolescent↗

Serotypes of group A streptococci isolated from healthy schoolchildren in the United Arab Emirates.

Group A streptococci (GAS) are the most frequent cause of pharyngitis in children and are a common cause of emergency room or paediatric clinic visits worldwide. This study determined the representative M and T types of GAS, and their distribution, among schoolchildren in the United Arab Emirates. Throat swabs were taken and cultured for GAS isolates during the winter of 1994-95 from 1000 children aged 5-7 years attending nine schools. Of the isolates obtained, 100 were serotyped using standard techniques. Nearly all these isolates (91%) were T typable, falling into 15 T types; the commonest being type 1 (n = 17), type 6 (n = 15), type 11 (n = 10), type 2 (n = 8), type 12 (n = 8), and type 28 (n = 8). A total of 76% of the isolates were typable for M protein, falling into 14 M types, with type 1 (n = 17), type 6 (n = 15), type 2 (n = 8), type 22 (n = 5), type 28 (n = 7), and type 75 (n = 5) predominating. Serotype clusters were found in certain classes or schools, although the number of isolates examined was too small to allow definitive epidemiological conclusions to be drawn. The ease of serotyping these isolates suggests that GAS strains in the United Arab Emirates are similar, but not necessarily related, to those commonly found in the USA and Europe, and that these may be the most prevalent strains worldwide. The relative prevalence of M type 1 is significant, as this GAS serotype is associated with serious diseases such as rheumatic heart disease, a recognized problem in the United Arab Emirates, and toxic shock syndrome, which has not yet been reported from this area. Knowledge of the prevalence of GAS serotypes, and further research on the epidemiology of streptococcal disease, will be useful should streptococcal vaccines become available.

Age Factors↗

The prevalence of group A streptococcal throat carriage in Al Ain, United Arab Emirates.

The aim of this study was to establish the carrier rate of group A beta haemolytic streptococci in school children in Al Ain, United Arab Emirates. One thousand and two randomly selected school children aged 5-7 years had their throats swabbed twice for both culture and direct antigen detection of group A streptococci. One hundred and fourteen children (11.3%) had both a positive antigen and culture test, while 216 (21.6%) had antigen-positive tests only and 16 (1.5%) had a positive culture only. Thus, the combination of culture and antigen detection revealed a carrier rate of 35.4% in the children examined. We conclude that in an affluent but isolated desert area on the Tropic of Cancer, group A streptococcal carriage rate is high. Antigen detection is superior to culture techniques in asymptomatic carrier studies.

Antigens, Bacterial↗

Paracetamol prescribing--an epidemic?

BACKGROUND: Although we are uncertain of its therapeutic mechanism, paracetamol is seen as a safe drug, especially for children. However, adult fatalities from overdose and its association with hepatotoxicity have cast doubt on its safety. OBJECTIVE: We aimed to establish the prescribing patterns of paracetamol in the United Arab Emirates (UAE). METHOD: The prescribing patterns in the UAE for paracetamol were studied by obtaining information on national utilization and recording in detail the pattern of prescribing in one primary health care centre. RESULTS: Paracetamol was included in 35.5% of all prescriptions from the study practice. Of these, 58.5% were for children under 12 years of age and overall 13.5% were for those infants under one year of age. CONCLUSIONS: National prescribing utilization is in keeping with the prescribing patterns of the index practice. Paracetamol prescribing is reaching epidemic proportions and the potential dangers of hepatotoxicity and the inhibition of the immune response in children are discussed.

Acetaminophen↗