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Biomedical subjects

R Roberts

Publications and source records attributed to R Roberts.

At least 19 recordsLinked to original sources
PubMed2026

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

OBJECTIVE: Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this. In England, VUS that fit the fetal phenotype and require little further evidence for upgrade are discussed at multidisciplinary team (MDT) meetings to determine whether to report. We review the VUS reported by one English laboratory that provides prenatal sequencing to half of England. METHOD: The laboratory's database was searched from 01/10/2020 to 30/04/2025 to ascertain all cases where a VUS was reported. Pregnancy outcomes were obtained from local clinical teams to determine whether the VUS status had been resolved. RESULTS: VUS were reported in 41/881 fetuses sequenced. Follow-up data were available for 38/41 cases, of which 23 were subsequently upgraded to likely pathogenic and 1 downgraded to likely benign. The most common reason for upgrade was new information from post-mortem or postnatal review (17/23). CONCLUSION: There is clinical utility in reporting VUS from prenatal sequencing following MDT discussion. Although reporting VUS leaves parents with uncertainty, follow up (including post-mortem when applicable) resolves this in over 50% of cases (79% of cases re-examined pre- or postnatally).

Humans↗
PubMed2006

Surveillance of insecticide resistance in head lice using biochemical and molecular methods.

Treatment of head louse infection is primarily through topical insecticides. However, there is growing evidence of resistance. A representative population sample was tested using biochemical and molecular methods; it was shown that, in Wales, treatments containing pyrethroids are likely to be less effective in controlling head louse infection than those containing organophosphates.

Animals↗
PubMed2006

Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31.

Chromosome 5q31 contains a cluster of genes involved in immune response, including a 250 kb risk haplotype associated with Crohn's disease (CD) susceptibility. Recently, two functional variants in SLC22A4 and SLC22A5 (L503F and G-207C), encoding the cation transporters OCTN1 and OCTN2, were proposed as causal variants for CD, but with conflicting genetic evidence regarding their contribution. We investigated this locus by resequencing the coding regions of 10 genes in 24 CD cases and deriving a linkage disequilibrium (LD) map of the 27 single nucleotide polymorphisms (SNPs) detected. Ten SNPs representative of the LD groups observed, were tested for CD association. L503F in SLC22A4 was the only nonsynonymous SNP significantly associated with CD (P=0.003), but was not associated with disease in the absence of other markers of the 250 kb risk haplotype. Two other SNPs, rs11242115 in IRF1 and rs17166050 in RAD50, lying outside the 250 kb risk haplotype, also showed CD association (P=0.019 and P=0.0080, respectively). The RAD50 gene contains a locus control region regulating expression of the Th2 cytokine genes at this locus. Other as yet undiscovered SNPs in this region may therefore modulate gene expression and contribute to the risk of CD, and perhaps of other inflammatory phenotypes.

Base Sequence↗
PubMed2006

Dura mater-associated Creutzfeldt-Jakob disease: experience from surveillance in the UK.

Between 1970 and 2003, seven cases of human dura mater-associated Creutzfeldt-Jakob disease (CJD) were identified in the UK. Furthermore, we identified a case of CJD in a porcine dura graft recipient. The mean incubation period of the human dura mater cases was 93 (range 45-177) months. The clinico-pathological features of the cases are described and compared with cases previously reported in the world literature.

Adult↗
PubMed2006

Is availability of public open space equitable across areas?

This study examined whether availability of public open spaces that can be used for recreation varies according to neighbourhood socio-economic disadvantage. Density and area of public open spaces were examined using a geographic information system and postal boundaries were used to define neighbourhoods. Neighbourhood socio-economic status (SES) was stratified into quintiles. Once neighbourhood population and geographic area were considered there were no differences in the number or total area of free-access, restricted access or sporting/recreation open spaces across quintiles of neighbourhood SES. Future research should examine whether the quality of public open spaces differ by neighbourhood SES.

Humans↗
PubMed2006

The use of impedance respirometry to confirm tracheal intubation in children.

Accidental oesophageal intubation can occur in children and is a cause of morbidity and mortality. This study investigated the use of impedance respirometry to determine tracheal tube position in children aged 1-10 years. Eighty children were recruited and, after induction of anaesthesia, two identical tracheal tubes were inserted: one into the trachea and one into the oesophagus. The breathing system was attached to one of the tubes chosen at random. A blinded observer was asked to identify the position of the tube within six breaths using impedance respirometry. The positions of 76 out of 80 tubes were correctly identified. Of those incorrectly identified, one was in the trachea and three were in the oesophagus. The sensitivity of the test was 0.975 and the specificity 0.925. The median number of breaths needed to identify the position of the tubes was 2.0 for both groups. This is not a perfect technique in the population studied but when used with other methods of tracheal tube position identification, its use could decrease the time taken to identify incorrect placement.

Child↗
PubMed2006

Symptom-specific efficacy of tolterodine extended release in patients with overactive bladder: the IMPACT trial.

We evaluated the efficacy of tolterodine extended release (ER) for patients' most bothersome overactive bladder (OAB) symptom in a primary care setting. Patients with OAB symptoms for >or=3 months received tolterodine ER (4 mg q.d.) for 12 weeks. Among incontinent patients (n = 772), the most bothersome OAB symptoms were daytime frequency (28%), urgency urinary incontinence (UUI; 27%), nocturnal frequency (26%) and urgency (19%); among continent patients (n = 91), they were daytime frequency (47%), nocturnal frequency (42%) and urgency (10%). Sixty-nine per cent of patients had one or more comorbid conditions. By week 12, there were significant reductions in patients' most bothersome symptom: -80% for UUI, -78% for urgency episodes, -40% for nocturnal frequency and -30% for daytime frequency (p < 0.0001). The most common adverse events were dry mouth (10%) and constipation (4%). In primary care practice, bothersome OAB symptoms can be effectively and safely treated with tolterodine ER, even in patients with comorbid conditions.

Adult↗
PubMed2006

Tolterodine extended release improves patient-reported outcomes in overactive bladder: results from the IMPACT trial.

We evaluated the effect of tolterodine extended release (ER) on patient- and clinician-reported outcomes in a primary care setting. Patients had overactive bladder (OAB) symptoms for >or=3 months and were at least moderately bothered by their most bothersome symptom, as indicated on the patient-completed OAB Bother Rating Scale. Patients completed the Overactive Bladder Questionnaire (OAB-q), American Urological Association Symptom Index (AUA-SI), and Patient Perception of Bladder Condition at each visit; investigators completed the Clinical Global Impression-Improvement at week 12. By week 12, there were statistically significant and clinically meaningful decreases on the OAB-q and AUA-SI total and subscale scores (p < 0.0001). Seventy-nine per cent of patients experienced some improvement in their overall bladder condition. Physicians reported that 68% of patients were 'much improved' or 'very much improved'. For symptom-defined conditions, patient-reported outcomes are a valuable means for determining responses to treatment.

Adolescent↗
PubMed2006

A chromosomal event resulting in possession and expression of multiple HLA-B and Cw genes in a renal patient.

Routine HLA typing of a renal patient for purposes of registration for transplantation revealed an unusual human leucocyte antigen (HLA)-B and Cw genotype, with three specificities detected. Results were confirmed in a second sample, and in a second laboratory. The possibility of these results reflecting a chimaeric state was rejected following short tandem repeat (STR) analysis. Although cytogenetic analysis has failed to detect a chromosomal abnormality, these findings support the view that the aberrant expression of HLA in this patient resulted from an unequal crossover event, occurring during meiosis in a previous generation.

Chimerism↗
PubMed2006

Partnered care in the Bahamas: A model of advanced healthcare delivery for developing countries.

OBJECTIVE: To assess the delivery of advanced specialized medical care using The Partnered Care Model as a means of providing affordable access to all, irrespective of ability to pay. DESIGN AND METHODS: A retrospective analysis of all persons presenting to a specialized, private, cardiac unit, The Bahamas Interventional Cardiology Center (BICC), over an 8.5-year period from March 1996 to September 2004 was conducted. The Bahamas Heart Center's Discounted Service System had been applied since inception to all patients in three groups including insured patients billed at 100% of the fee schedule of The Medical Association of the Bahamas for the procedures performed, private self-pay and government patients billed at 75% and 50% respectively. Their respective distribution and contributions to total revenue was analyzed. A series of financial models were constructed taking into consideration variables that could influence the percentages of revenues collected from each sector and the number of individuals served RESULTS: One thousand five-hundred and forty-two patients received services in BICC over the 8.5 year period (56% males and 44% females age range: 0.25 - 96 years, with mean age of 55.7 years). One thousand eight-hundred and eighty-eight patient-procedures were performed, with 51% insured generating 69% total revenue, 18% Private producing 16% Revenue, and 31% Government patients generating 15%. Financial models were created to predict revenue behaviour in various scenarios. CONCLUSION: Partnered Care is a viable alternative for Governments (Ministries of Health) of developing countries to provide costly specialized healthcare to their populations at minimal expense and capital outlay. Partnered Care reduces the otherwise overwhelming burden of healthcare cost to governments, particularly in developing countries, by sharing the burden of care between the private, user and government sectors.

Bahamas↗
PubMed2004

Myosin VI: a multifunctional motor.

Myosin VI moves towards the minus end of actin filaments unlike all the other myosins so far studied, suggesting that it has unique properties and functions. Myosin VI is present in clathrin-coated pits and vesicles, in membrane ruffles and in the Golgi complex, indicating that it has a wide variety of functions in the cell. To investigate the cellular roles of myosin VI, we have identified a variety of myosin VI-binding partners and characterized their interactions. As an alternative approach, we have studied the in vitro properties of intact myosin VI. Previous studies assumed that myosin VI existed as a dimer but our biochemical characterization and electron microscopy studies reveal that myosin VI is a monomer. Using an optical tweezers force transducer, we showed that monomeric myosin VI is a non-processive motor with a large working stroke of 18 nm. Potential roles for myosin VI in cells are discussed.

Actins↗
PubMed2004

Antenatal HIV testing: evaluation of uptake and women's attitudes in a low risk population.

The number of HIV-positive heterosexuals in the UK is increasing, with a resultant increase in the number of pregnant women who are HIV-positive. The benefits of diagnosing an HIV-positive woman antenatally are well established. The Department of Health of England issued guidelines recommending named voluntary antenatal testing, with a view to achieving a maternal diagnosis rate of 90% by December 2002. In Northern Ireland the policy was distributed in 2003. The screening programme in our hospital had an uptake rate of 98.7 %. Responses to a questionnaire to evaluate the process indicate that HIV testing was associated with low levels of anxiety and that patients were well satisfied with the counselling they received.

Female↗
PubMed2002

The historical development of human resources policies in the health sector of four Caribbean territories: imitated or created?

Health systems are labour intensive, dependent on a mix of professionals to provide health care in both public and private sectors. In this paper, we explore the historical development of human resources, focusing on doctors and nurses, in four Caribbean territories-the Bahamas, Martinique, Suriname and Trinidad and Tobago. All these territories have faced issues around the out-migration of doctors and nurses and tensions between public health, hospital services and private sector policies. Early policies to increase the number of nurses and doctors were costly, because they were implemented against a tide of increasing outward migration. Both push and pull factors were evident. Human resources policies focused on ways to counter pull factors-such as introducing regional medical training-but neglected push factors. These began to be addressed from the 1980s on, although tensions between public health, hospital services and private sector policies led to resistance and conflicts in attitudes to reform among health professionals. Policy responses were the product of many influences, and it is too simple to conclude they were either imported from abroad or internally generated. However, it is clear that in all four territories the medical profession played a dominant role in human resources policy development either directly or indirectly.

Bahamas↗