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Biomedical subjects

A Clarke

Publications and source records attributed to A Clarke.

At least 19 recordsLinked to original sources
PubMed2007

Neuropsychiatric events at the time of diagnosis of systemic lupus erythematosus: an international inception cohort study.

OBJECTIVE: To describe the prevalence, characteristics, attribution, and clinical significance of neuropsychiatric (NP) events in an international inception cohort of systemic lupus erythematosus (SLE) patients. METHODS: The study was conducted by the Systemic Lupus International Collaborating Clinics (SLICC). Patients were enrolled within 15 months of fulfilling the American College of Rheumatology (ACR) SLE classification criteria. All NP events within a predefined enrollment window were identified using the ACR case definitions of 19 NP syndromes. Decision rules were derived to determine the proportion of NP disease attributable to SLE. Clinical significance was determined using the Short Form 36 (SF-36) Health Survey and the SLICC/ACR Damage Index (SDI). RESULTS: A total of 572 patients (88% female) were recruited, with a mean +/- SD age of 35 +/- 14 years. The mean +/- SD disease duration was 5.2 +/- 4.2 months. Within the enrollment window, 158 of 572 patients (28%) had at least 1 NP event. In total, there were 242 NP events that encompassed 15 of 19 NP syndromes. The proportion of NP events attributed to SLE varied from 19% to 38% using alternate attribution models and occurred in 6.1-11.7% of patients. Those with NP events, regardless of attribution, had lower scores on the SF-36 and higher SDI scores compared with patients with no NP events. CONCLUSION: Twenty-eight percent of SLE patients experienced at least 1 NP event around the time of diagnosis of SLE, of which only a minority were attributed to SLE. Regardless of attribution, the occurrence of NP events was associated with reduced quality of life and increased organ damage.

Adult↗
PubMed2006

Genetic nurse counsellors can be an acceptable and cost-effective alternative to clinical geneticists for breast cancer risk genetic counselling. Evidence from two parallel randomised controlled equivalence trials.

This study compared genetic nurse counsellors with standard services for breast cancer genetic risk counselling services in two regional genetics centres, in Grampian region, North East Scotland and in Cardiff, Wales. Women referred for genetic counselling were randomised to an initial genetic counselling appointment with either a genetic nurse counsellor (intervention) or a clinical geneticist (current service, control). Participants completed postal questionnaires before, immediately after the counselling episode and 6 months later to assess anxiety, general health status, perceived risk and satisfaction. A parallel economic evaluation explored factors influencing cost-effectiveness. The two concurrent randomised controlled equivalence trials were conducted and analysed separately. In the Grampian trial, 289 patients (193 intervention, 96 control) and in the Wales trial 297 patients (197 intervention and 100 control) returned a baseline questionnaire and attended their appointment. Analysis suggested at least likely equivalence in anxiety (the primary outcome) between the two arms of the trials. The cost per counselling episode was 11.54 UK pounds less for nurse-based care in the Grampian trial and 12.50 UK pounds more for nurse-based care in Cardiff. The costs were sensitive to the grade of doctor (notionally) replaced and the extent of consultant supervision required by the nurse. In conclusion, care based on genetic nurse counsellors was not significantly different from conventional cancer genetic services in both trial locations.

Adolescent↗
PubMed2006

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

OBJECTIVE: To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. METHODS: Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. RESULTS: Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett-like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto-temporal predominance and high amplitudes. CONCLUSIONS: The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. Analysis should be considered in these patients in the clinical setting.

Adolescent↗
PubMed2006

Psychosocial outcomes derived from an acid burned population in Bangladesh, and comparison with Western norms.

Assault by acid burns typically results in severe disfigurement, yet the psychosocial impact of this injury is so far unreported. This study provides the first empirical data using standardised assessment scales, from 44 acid burns survivors in Bangladesh. Compared with published norms, individuals show high levels of psychological distress including social anxiety and avoidance, anxiety and depression. Consistent with the published literature, there is no relationship between severity of injury and level of psychological distress. One interesting feature of this population is the relative preservation of perceived self-concept, and this is discussed with relation to the supportive and therapeutic environment of the clinic where this group were studied. We also note an interesting sub-group who were attacked by members of their own family and for whom psychological morbidity seems particularly pronounced.

Acids↗
PubMed2006

Mortality in systemic lupus erythematosus.

OBJECTIVE: To examine mortality rates in the largest systemic lupus erythematosus (SLE) cohort ever assembled. METHODS: Our sample was a multisite international SLE cohort (23 centers, 9,547 patients). Deaths were ascertained by vital statistics registry linkage. Standardized mortality ratio (SMR; ratio of deaths observed to deaths expected) estimates were calculated for all deaths and by cause. The effects of sex, age, SLE duration, race, and calendar-year periods were determined. RESULTS: The overall SMR was 2.4 (95% confidence interval 2.3-2.5). Particularly high mortality was seen for circulatory disease, infections, renal disease, non-Hodgkin's lymphoma, and lung cancer. The highest SMR estimates were seen in patient groups characterized by female sex, younger age, SLE duration <1 year, or black/African American race. There was a dramatic decrease in total SMR estimates across calendar-year periods, which was demonstrable for specific causes including death due to infections and death due to renal disorders. However, the SMR due to circulatory diseases tended to increase slightly from the 1970s to the year 2001. CONCLUSION: Our data from a very large multicenter international cohort emphasize what has been demonstrated previously in smaller samples. These results highlight the increased mortality rate in SLE patients compared with the general population, and they suggest particular risk associated with female sex, younger age, shorter SLE duration, and black/African American race. The risk for certain types of deaths, primarily related to lupus activity (such as renal disease), has decreased over time, while the risk for deaths due to circulatory disease does not appear to have diminished.

Adolescent↗
PubMed2006

A portal to validated websites on cosmetic surgery: the design of an archetype.

There has recently been an increase in the usage of the Internet as a source of patient information. It is very difficult for laypersons to establish the accuracy and validity of these medical websites. Although many website assessment tools exist, most of these are not practical.A combination of consumer- and clinician-based website assessment tools was applied to 200 websites on cosmetic surgery. The top-scoring websites were used as links from a portal website that was designed using Microsoft Macromedia Suite.Seventy-one (35.5%) websites were excluded. One hundred fifteen websites (89%) failed to reach an acceptable standard.The provision of new websites has proceeded without quality controls. Patients need to be better educated on the limitations of the Internet. This paper suggests an archetypal model, which makes efficient use of existing resources, validates them, and is easily transferable to different health settings.

Internet↗
PubMed2006

Germline mosaicism for a MECP2 mutation in a man with two Rett daughters.

Rett syndrome is a severe neurodevelopmental disorder that is caused by mutations in the X-linked gene, methyl-CpG binding protein 2 (MECP2). The majority of cases are sporadic, but rarely germline mosaicism can lead to familial cases. Here, we report the first case where germline mosaicism for a MECP2 mutation has been shown in a man. He has two affected daughters who are half sisters, and both have the c.808delC mutation. We show that this mutation is present at a low level in DNA extracted from the patient's semen. This case has implications for genetic counseling, and pre-natal testing should be offered for the partners of men who have a daughter with Rett syndrome.

Base Sequence↗
PubMed2006

Dance training intensity at 11-14 years is associated with femoral torsion in classical ballet dancers.

OBJECTIVE: To examine in a cross sectional study the influence of femoral torsion (FT) and passive hip external rotation (PER) on turnout (TO). Starting age, years of classical ballet training, and current and past dance training intensity were assessed to determine their influence on FT, PER, and TO in pre-professional female dancers. METHODS: Sixty four dancers (mean (SD) age 18.16 (1.80) years) were recruited from four different dance training programmes. They completed a dance history questionnaire. FT was measured using a clinical method. PER was measured with the subjects prone, and TO was measured with the subjects standing. RESULTS: Mean TO was 136 degrees, mean unilateral PER was 49.4 degrees, and mean FT was 18.4 degrees. A positive correlation was observed between PER combined (PERC) and TO (r = 0.443, p < 0.001). A negative association was found between FT combined (FTC) and PERC (r = -0.402, p = 0.001). No association was found between starting age or years of classical ballet training and FTC, PERC, or TO. Dancers who trained for six hours a week or more during the 11-14 year age range had less FT than those who trained less (mean difference 6 degrees, 95% confidence interval 1.4 to 10.3). Students currently training for longer had higher levels of TO (p < 0.001) but comparable PERC and FTC. CONCLUSION: FT is significantly associated with PERC. Dancers who trained for six hours a week or more at 11-14 years of age had significantly less FT. FTC had a significant influence on PERC, but no influence on the execution of TO.

Adolescent↗
PubMed2006

Mortality related to cerebrovascular disease in systemic lupus erythematosus.

The objective of this study was to examine mortality rates related to cerebrovascular disease in systemic lupus erythematosus (SLE) compared to the general population. Our sample was a multisite Canadian SLE cohort (10 centres, n = 2688 patients). Deaths due to cerebrovascular disease were ascertained by vital statistics registry linkage using ICD diagnostic codes. Standardized mortality ratio (SMR, ratio of deaths observed to expected) estimates were calculated. The total SMR for death due to cerebrovascular disease was 2.0 (95% confidence interval [CI] 1.0, 3.7). When considering specific types of events, the category with the greatest increased risk was that of ill-defined cerebrovascular events (SMR 44.9 95% CI 9.3, 131.3) and other cerebrovascular disease (SMR 8.4, 95% CI 2.3, 21.6). Deaths due to cerebral infarctions appeared to be less common than hemorrhages and other types of cerebrovascular events. Our data suggest an increase in mortality related to cerebrovascular disease in SLE patients compared to the general population. The large increase in ill-defined cerebrovascular events may represent cases of cerebral vasculitis or other rare forms of nervous system disease; alternately, it may reflect diagnostic uncertainty regarding the etiology of some clinical presentations in SLE patients. The suggestion that more deaths are attributed to cerebral hemorrhage, as opposed to infarction, indicates that inherent or iatrogenic factors (eg, thrombocytopenia or anticoagulation) may be important. In view of the paucity of large-scale studies of mortality attributed to neuropsychiatric outcomes in SLE, our findings highlight the need for additional research in large SLE cohorts.

Adolescent↗
PubMed2006

Hepatitis C transmission -- where are we now?

Since the discovery of hepatitis C virus (HCV) in 1989, there has been much debate regarding its potential modes of transmission particularly as only about half of the reported cases of acute HCV have a defined parenteral exposure. It has been clearly established that blood-blood contact is important in its transmission, but the question of sexual transmission has caused more controversy with studies producing conflicting evidence. The objective of this review was to examine the current evidence on all reported routes of transmission of hepatitis C with particular attention to sexual transmission in men having sex with men (MSM) and HIV-positive individuals. We conducted PubMed searches using keywords hepatitis C, transmission, sexual, HIV, MSM, mother to child, haemophilia, intravenous drug use, tattooing and skin piercing. The bibliographies in articles identified were also searched.

Disease Transmission, Infectious↗
PubMed2005

An international cohort study of cancer in systemic lupus erythematosus.

OBJECTIVE: There is increasing evidence in support of an association between systemic lupus erythematosus (SLE) and malignancy, but in earlier studies the association could not be quantified precisely. The present study was undertaken to ascertain the incidence of cancer in SLE patients, compared with that in the general population. METHODS: We assembled a multisite (23 centers) international cohort of patients diagnosed as having SLE. Patients at each center were linked to regional tumor registries to determine cancer occurrence. Standardized incidence ratios (SIRs) were calculated as the ratio of observed to expected cancers. Cancers expected were determined by multiplying person-years in the cohort by the geographically matched age, sex, and calendar year-specific cancer rates, and summing over all person-years. RESULTS: The 9,547 patients from 23 centers were observed for a total of 76,948 patient-years, with an average followup of 8 years. Within the observation interval, 431 cancers occurred. The data confirmed an increased risk of cancer among patients with SLE. For all cancers combined, the SIR estimate was 1.15 (95% confidence interval [95% CI] 1.05-1.27), for all hematologic malignancies, it was 2.75 (95% CI 2.13-3.49), and for non-Hodgkin's lymphoma, it was 3.64 (95% CI 2.63-4.93). The data also suggested an increased risk of lung cancer (SIR 1.37; 95% CI 1.05-1.76), and hepatobiliary cancer (SIR 2.60; 95% CI 1.25, 4.78). CONCLUSION: These results support the notion of an association between SLE and cancer and more precisely define the risk of non-Hodgkin's lymphoma in SLE. It is not yet known whether this association is mediated by genetic factors or exogenous exposures.

Adult↗
PubMed2005

Sacral nerve stimulation reduces corticoanal excitability in patients with faecal incontinence.

BACKGROUND: Sacral nerve stimulation (SNS) can produce symptomatic relief in patients with faecal incontinence. Moreover, peripheral nerve stimulation has been shown to affect brain function. The aim of this study was to determine whether SNS might produce important changes in cortical activity linked to improved continence. METHODS: In an experimental study, ten women with intractable faecal incontinence (mean age 51.3 years) were serially mapped with transcranial magnetic stimulation before and immediately after 14 days of temporary SNS (15 Hz, pulse width 210 micros), and then 2 weeks later. Anal sphincter electromyographic responses were recorded to cortical stimulation of multiple points over a scalp grid covering the bilateral medial cortex. Continence scores, anorectal manometry and rectal sensitivity data were also collected. RESULTS: SNS improved global symptom scores in the majority of patients; mean(s.e.m.) continence scores fell from 16.9(1.6) to 10.6(1.8) (P = 0.042). Cortical mapping showed a consistent decrease in corticoanal representation and overall excitability immediately after SNS compared with baseline (mean(s.e.m.) 38,083(13,669) versus 42,507(13,297) microV s; P = 0.017), which was reversed 2 weeks after SNS wire removal. CONCLUSION: SNS produces symptom benefit in patients with faecal incontinence that is associated with a reversible reduction in corticoanal excitability. SNS therefore drives dynamic brain changes that may play a functional role in influencing anal continence.

Adult↗
PubMed2005

A funding model for a psychological service to plastic and reconstructive surgery in UK practice.

Appearance related distress in both clinical and general populations is associated with the increasing identification of surgery as a solution, leading to referrals for cosmetic surgery and pressure on NHS resources. Cosmetic surgery guidelines are designed to control this growing demand, but lack a sound evidence base. Where exceptions are provided on the basis of psychological need, this may recruit patients inappropriately into a surgical pathway, and creates a demand for psychological assessment which transfers the resource problem from one service to another. The model described below evaluates the impact of a designated psychology service to a plastic surgery unit. Developing an operational framework for delivering cosmetic guidelines, which assesses patients using clearly defined and measurable outcomes, has significantly reduced numbers of patients proceeding to the NHS waiting list and provided a systematic audit process. The associated cost savings have provided a way of funding a psychologist within the plastic surgery service so that psychological assessment becomes routine, alternative methods of treatment are easily available and all patients have access to psychological input as part of the routine standard of care.

Financing, Government↗