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Biomedical subjects

A Haworth

Publications and source records attributed to A Haworth.

At least 19 recordsLinked to original sources

Knowledge, attitudes, behaviors, and practices regarding epilepsy among Zambian clerics.

BACKGROUND: Epilepsy carries a high burden of social morbidity. An understanding of who propagates stigma and the determinants of stigmatizing attitudes is needed to develop effective interventions. Clerics represent an especially influential social group in Africa. Therefore, we conducted a survey of the knowledge, attitudes, behavior, and practices of Zambian clerics with respect to epilepsy. METHODS: We studied clerics in one large rural region as well as in the capital city. The rural survey was conducted door-to-door. In the urban areas, central administration for multiple denominations assisted in survey delivery. The survey, adapted from previously published instruments, included cleric-specific questions and demographic data. Composite scores for knowledge and tolerance were developed. Determinants of higher knowledge and tolerance were assessed. RESULTS: Almost all Zambian clerics know someone with epilepsy and have witnessed a seizure. More than 40% report having a family member with epilepsy. Unfortunately, this familiarity is not associated with more knowledge or tolerance for the condition. Younger clerics, urban dwellers, those with fewer children, and those with more years of formal education were significantly more tolerant. More knowledgeable clerics are more likely to recommend that a person with epilepsy seek care from a physician rather than a traditional healer. Formal education was the most important factor in determining tolerance toward epilepsy. CONCLUSIONS: Zambian clerics are very familiar with epilepsy, yet have relatively little knowledge of the etiology. Many view traditional healers as the appropriate care provider for epilepsy. To decrease stigma and improve the quality of advice offered by clerics to their congregations, educational programs focusing on the biomedical nature of the disorder are needed, particularly in rural regions.

Adolescent↗

Factors associated with postpartum physical and mental morbidity among women with known HIV status in Lusaka, Zambia.

The objective of our study was to investigate factors associated with postpartum physical and mental morbidity among women in Lusaka, Zambia with particular reference to known HIV status. Our study was part of the Breastfeeding and Postpartum Health (BFPH) longitudinal cohort study conducted between June 2001 and July 2003. Women were recruited at 34 weeks gestation and followed up to 16 weeks postpartum. Data on maternal health were collected at 3, 7, 10, and 14 days and at 3, 4, 5, 6, 9, 12, and 16 weeks postpartum. Maternal mental health data were collected from April 2002 onwards at recruitment and at seven days and six weeks postpartum. Data on physical morbidity were collected for 429 women (218 HIV-negative, 211 HIV-positive) and data on mental morbidity were collected for 272 women (134 HIV-negative, 138 HIV-positive). Multivariate logistic regression was used to examine factors associated with postpartum physical or mental morbidity. Postpartum physical morbidity was associated with HIV status, parity > or =5 and age < 20 years. Neither antenatal nor postpartum mental morbidity, as indicated by a self-reporting questionnaire 20-item (SRQ-20) score > or =7, were associated with HIV status or with postpartum physical morbidity in this population. Larger comparative studies are required to corroborate or contest these findings.

Adolescent↗

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.

The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity of current MSA diagnostic criteria. We genotyped 507 patients with clinically diagnosed or pathologically proven MSA for FMR1 repeat length. Among the 426 clinically diagnosed cases, we identified four patients carrying FMR1 premutations (0.94%). Within the subgroup of patients with probable MSA-C, three of 76 patients (3.95%) carried premutations. We identified no premutation carriers among 81 patients with pathologically proven MSA and only one carrier among 622 controls (0.16%). Our results suggest that, with proper application of current diagnostic criteria, FXTAS is very unlikely to be confused with MSA. However, slowly progressive disease or predominant tremor are useful red flags and should prompt the consideration of FXTAS. On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients.

Aged↗

Multicentre analysis of treatment planning information: technical requirements, possible applications and a proposal.

Digital data from 3-D treatment planning computers is generally used for patient planning and then never considered again. However, such data contains enormous quantities of information regarding patient geometries, tissue outlining, treatment approaches and dose distributions. Were such data accessible from planning systems from multiple manufacturers, there would be substantial opportunities for undertaking quality assurance of radiotherapy clinical trials, prospective assessment of trial outcomes and basic treatment planning research and development. The technicalities of data exchange between planning systems are outlined, and previous attempts at producing systems capable of viewing and/or manipulating imaging and radiotherapy digital data reviewed. Development of a software system for enhancing the quality of Australasian clinical trials is proposed.

Clinical Trials as Topic↗

Australian and New Zealand three-dimensional conformal radiation therapy consensus guidelines for prostate cancer.

Three-dimensional conformal radiation therapy (3DCRT) has been shown to reduce normal tissue toxicity and allow dose escalation in the curative treatment of prostate cancer. The Faculty of Radiation Oncology Genito-Urinary Group initiated a consensus process to generate evidence-based guidelines for the safe and effective implementation of 3DCRT. All radiation oncology departments in Australia and New Zealand were invited to complete a survey of their prostate practice and to send representatives to a consensus workshop. After a review of the evidence, key issues were identified and debated. If agreement was not reached, working parties were formed to make recommendations. Draft guidelines were circulated to workshop participants for approval prior to publication. Where possible, evidence-based recommendations have been made with regard to patient selection, risk stratification, simulation, planning, treatment delivery and toxicity reporting. This is the first time a group of radiation therapists, physicists and oncologists representing professional radiotherapy practice across Australia and New Zealand have worked together to develop best-practice guidelines. These guidelines should serve as a baseline for prospective clinical trials, outcome research and quality assurance.

Australia↗

Dosimetry of a low-kV intra-operative X-ray source using basic analytical beam models.

The low energy (30-50 kVp) beams from an intra-operative X-ray source are modelled using a basic analytical model considering just primary beam attenuation and absorption. Spatial dosimetry at such low energies is difficult due to the rapid changes in dose-rate from the radiation source. The purpose of the model was to determine the variation with distance in water of coefficients required for beam dosimetry and to validate beam measurements performed in water of high-gradient dose distributions. The model predicts a change in mean mass-energy absorption coefficient of up to 3 % over the range of clinically-relevant distances in water. Distance-dose distributions (variation in dose with distance in water) for the X-ray source were calculated with the model and found to be in agreement with measurement (at clinically-relevant distances), to within a spatial distance comparable to the dimensions and positional accuracy of the ionization chamber used, and comparable to the expected dosimetric anisotropy of the radiation source. Measured and calculated distance-doses begin to diverge at relatively large distances from the radiation source, which is where dose-rates are so low that detector signal levels are comparable with noise.

Absorption↗

HIV counselling and testing: overemphasizing high acceptance rates a threat to confidentiality and the right not to know.

OBJECTIVE: To examine factors affecting the readiness for HIV-related voluntary confidential counselling and testing (VCT). METHODS: In a population-based HIV survey in selected urban and rural areas in Zambia, adults aged > or = 15 years were selected by stratified random cluster sampling. The participants were asked to provide a saliva sample for anonymous HIV testing (n=4812, consent rate 93.5%) and, as a part of an interview, were asked about previous HIV testing experience and if they wished to be counselled and tested for HIV. Those indicating interest (initially willing) were provided with an invitation letter to see a counsellor. In rural areas, VCT was provided by personnel brought in from outside the local community, whereas in urban areas it was provided by locally recruited staff. RESULTS: The overall HIV test rate was 6.5%, but rates appeared to be considerably biased towards higher educational groups. The proportion initially willing was 37% while 3.6% actually came for counselling and were tested (9.3% of those initially willing), of which 47% returned for the result. Actual use was four to five times higher in rural compared with urban areas. Self-perceived risk and high-risk behaviour were positively associated with initial willingness but not with actual use. CONCLUSIONS: The readiness for VCT in the general population was found to be very low. Provision factors such as concerns about confidentiality and length of time waiting for the test result contributed to the low utilization rate. Results of this study contrast sharply with reported VCT acceptance rates of 70-90% among women attending antenatal care in Zambian and in other African populations, suggesting an urgent need to evaluate testing policy and practice of antenatal VCT in particular.

AIDS Serodiagnosis↗

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).

We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, and 12 from other regional molecular genetics laboratories). Of 56 mutations seen in native U.K. CF patients, only DeltaF508, R709X, and 2184insA were detected in the Pakistani patients. Combined SSCP/Heteroduplex analysis, DGGE, and direct DNA cycle sequencing revealed five novel mutations: Y569D, Q98X, 296+12(T>C), 1161delC, and 621+2(T>C), which appear to be specific to Pakistani CF families. In addition, a novel polymorphism, 297-67(A/C), and three previously described rare mutations, 1525-1(G>A), R560S, and 1898+1(G>T), were detected. In the 14 Pakistani CF patients from the north west of England, DeltaF508 accounted for approximately 32% (9/28 chromosomes) and the overall detection rate of CF mutations in this group was approximately 86% (24/28 chromosomes).

Cystic Fibrosis↗

SSCP analysis: a blind sensitivity trial.

Studies of the sensitivity of SSCP analysis usually have been performed under conditions contrary to the rules of quality control trials and have produced widely different results. We have performed a blind trial of the sensitivity of SSCP analysis for the detection of mutations in fragments up to 500 bp in length under a fixed single set of electrophoretic conditions. The mutation detection rate was 84%. In addition, we have identified a second mutation in nine samples. All these mutations are polymorphisms, including a novel polymorphism 1248 + 52T/C first reported in the present work.

Cystic Fibrosis Transmembrane Conductance Regulato↗

Cystic fibrosis mutations in Romania.

UNLABELLED: We have investigated the genotype in 32 children with cystic fibrosis from Romania. The diagnosis of cystic fibrosis was made on the basis of typical clinical findings and sweat electrolyte levels using the pilocarpine iontophoresis method. CONCLUSION: Genetic analysis of 32 children with cystic fibrosis from Romania showed a 25% incidence of DeltaF508 mutation and a 64.5% incidence of unknown mutations, 5 other known mutations and 1 new mutation 1,717-2(A > G).

Blood Proteins↗

The use of anisotropic data in 125I prostate implants.

The report recently published by AAPM Task Group 43' (TG43) recommends the use of a two dimensional dose distribution function for the dosimetry associated with 125I, 192Ir and 103Pd sources. For commercial planning systems that cannot be readily adapted to use a two dimensional function, a point source approximation is provided. The dose distribution around an array of 125I seeds has been calculated using the two dimensional model and the point source approximation. Isodose distributions through selected planes and dose volume histograms of selected cubic volumes show that differences between the two models for this array are insignificant, particularly in view of the uncertainties associated with using the data which is provided by TG43 for the two dimensional anisotropy function.

Anisotropy↗

Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.

We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 22 laboratories in the United Kingdom. A total of 9,807 CF chromosomes have been analysed, demonstrating 56 different mutations so far observed and accounting for 86% of CF genes in the native Caucasian population of the United Kingdom. delta F508 is the most common at 75.3% of CF mutations (range 56.5-83.7%), followed by G551D (3.08%; range 0.71-7.60%), G542X (1.68%; range 0.85-3.66%), 621 + 1 (G > T) (0.93%; range 0.41-3.16%), 1717-1(G > A) (0.57%; range 0.17-1.14%), 1898 + 1)(G > A) (0.46%), R117H (0.46%), N1303K (0.46%), and R553X (0.46%). The data show a clear geographical variation in the distribution of some of the mutations, most notably a marked regional variation in the distribution of 621 + 1 (G > T) and 1989 + 1(G > A), which are both apparently more frequent in Wales. R560T and R117H appear to be more frequent in Ireland and Scotland, and G551D more frequent in Scotland. In summary, these data illustrate that the mutations present within a particular population need to be defined in order to provide meaningful carrier screening and testing for rare mutations in affected individuals. Furthermore, it is apparent that the ethnic origin of a patient, even within a small country such as the United Kingdom, should be taken into account.

Cystic Fibrosis↗

Active cascade testing for carriers of cystic fibrosis gene.

OBJECTIVE: To examine the acceptability, practicability, efficiency, and application of active screening for carriers of the cystic fibrosis gene in the extended families of those in whom the disease is present (Cascade screening). DESIGN: Paediatricians and physicians provide details of their affected patients, pedigrees are drawn up, and relatives offered tests after initial contact by the affected nuclear families. Affected patients are genotyped in a laboratory with a special interest in the genetics of cystic fibrosis. SETTING: North Western health region. SUBJECTS: Relatives and partners of 607 people with cystic fibrosis. INTERVENTIONS: Genetic counselling by letter for people found to be carriers; formal genetic counselling and when indicated arrangements for prenatal diagnosis for couples discovered to be carriers. MAIN OUTCOME MEASURES: Number of carrier couples detected; action in pregnancy of detected carrier couples; extent of the uptake of screening by relatives. RESULTS: Of 1563 relatives or partners tested, 15 carrier couples were detected; of nine pregnancies undertaken by these 15, eight had prenatal tests and three terminated pregnancies. An average of 16 people per family have come forward for testing so far. CONCLUSIONS: Cascade screening for carriers of cystic fibrosis is well accepted by relatives, especially on the mother's side of the family; it is 10 times more efficient in detecting carrier couples than unfocused screening. Detected carrier couples make practical use of the information in pregnancy. Active cascade screening for carriers is effective in cystic fibrosis and widespread application is recommended. These principles could be applied to other recessive disorders.

Cystic Fibrosis↗