Threats to the Presumption of Innocence in Irish Criminal Law:An Assessment

The existence of four contemporary threats to the presumption of innocence in England and Wales has recently been posited by Ashworth. In his examination of legislation and case law impacting on the presumption, he concludes ‘generally recognised as a fundamental right it may be, but its precise significance for the defendant is so contingent as to raise doubts’. In an Irish context, Hamilton too has written of the ‘growing insignificance of the presumption of innocence for accused persons’ such that ‘[its] tangible benefits [appear] little in evidence’ in our criminal justice system. In light of these rather depressing diagnoses, the aim of this paper is to attempt to take stock of the law in the Republic of Ireland impacting upon the presumption of innocence as well as to search for some possible explanations for recent developments.

Diagnostic accuracy and clinical management by realtime teledermatology. Results from the Northern Ireland arms of the UK Multicentre Teledermatology Trial

Diagnostic accuracy and management recommendations of realtime teledermatology consultations using low-cost telemedicine equipment were evaluated. Patients were seen by a dermatologist over a video-link and a diagnosis and treatment plan were recorded. This was followed by a face-to-face consultation on the same day to confirm the earlier diagnosis and management plan. A total of 351 patients with 427 diagnoses participated. Sixty-seven per cent of the diagnoses made over the video-link agreed with the face-to-face diagnosis. Clinical management plans were recorded for 214 patients with 252 diagnoses. For this cohort, 44% of the patients were seen by the same dermatologist at both consultations, while 56% were seen by a different dermatologist. In 64% of cases the same management plan was recommended at both consultations; a sub-optimum treatment plan was recommended in 8% of cases; and in 9% of cases the video-link management plans were judged to be inappropriate. In 20% of cases the dermatologist was unable to recommend a suitable management plan by video-link. There were significant differences in the ability to recommend an optimum management plan by video-link when a different dermatologist made the reference management plan. The results indicate that a high proportion of dermatological conditions can be successfully managed by realtime teledermatology.

General practitioner records on computer--handle with care

This 1 year prospective study involved nine general practitioners in an urban health centre who routinely record all patient contacts on computer. The study determines by comparison with a manual record how accurately doctors record laboratory investigations on computer and compares the effectiveness of three interventions in improving the completeness of computerized recording of presenting symptoms, problems/diagnoses and laboratory investigations. Recording was analysed for 1 month prior to and for two 1 month periods following each intervention. A control group was used. A total of 7983 patient contacts were analysed. Intervention led to an improvement in the recording of presenting symptoms and problems/diagnoses. Recording of investigations on the computer showed no improvement, remaining at one-third of the total in the treatment room book for both study and control doctors. The effectiveness of the different forms of intervention depended on both the aspect of the consultation considered and the familiarity of individual doctors with the method of data collection. Aspects considered less important required greater intervention to bring about a marked improvement, as did doctors relatively new to the practice. It may not be possible to get all aspects of the consultation recorded with the same degree of accuracy. This has implications for the accuracy of retrospective studies dependent on existing computerized data.

Comparison of teleconsultations and face-to-face consultations:preliminary results of a United Kingdom multicentre teledermatology study

The objective of this multicentre study was to undertake a systematic comparison of face-to-face consultations and teleconsultations performed using low-cost videoconferencing equipment. One hundred and twenty-six patients were enrolled by their general practitioners across three sites. Each patient underwent a teleconsultation with a distant dermatologist followed by a traditional face-to-face consultation with a dermatologist. The main outcome measures were diagnostic concordance rates, management plans and patient and doctor satisfaction. One hundred and fifty-five diagnoses were identified by the face-to-face consultations from the sample of 126 patients. Identical diagnoses were recorded from both types of consultation in 59% of cases. Teledermatology consultations missed a secondary diagnosis in 6% of cases and were unable to make a useful diagnosis in 11% of cases. Wrong diagnoses were made by the teledermatologist in 4% of cases. Dermatologists were able to make a definitive diagnosis by face-to-face consultations in significantly more cases than by teleconsultations (P = 0.001). Where both types of consultation resulted in a single diagnosis there was a high level of agreement (kappa = 0.96, lower 95% confidence limit 0.91-1.00). Overall follow-up rates from both types of consultation were almost identical. Fifty per cent of patients seen could have been managed using a single videoconferenced teleconsultation without any requirement for further specialist intervention. Patients reported high levels of satisfaction with the teleconsultations. General practitioners reported that 75% of the teleconsultations were of educational benefit. This study illustrates the potential of telemedicine to diagnose and manage dermatology cases referred from primary care. Once the problem of image quality has been addressed, further studies will be required to investigate the cost-effectiveness of a teledermatology service and the potential consequences for the provision of dermatological services in the U.K.

Which patients with renal colic should be referred?

Around 1-2 people per thousand present with an acute episode of pain caused by renal stones each year. Renal colic is classically sudden in onset, unilateral, and radiates from loin to groin. Renal pelvic or upper ureteric stones usually cause more flank pain and tenderness while lower ureteric stones cause pain radiating towards the ipsilateral testicle or labia. Other common symptoms include nausea and vomiting, haematuria and irritative LUTS. A febrile patient with renal colic requires immediate hospital admission. Symptoms suggestive of renal colic along with a positive dipstick for haematuria have a reported sensitivity of 84% and specificity of 99% but it is important to consider other differential diagnoses. An NSAID is preferred over an opiate drug as an initial analgesic choice as the NSAID can help reduce ureteric spasm. Diclofenac has the best evidence base for this class of analgesic. About 90% of stones will pass spontaneously and thus it is often appropriate to manage renal colic at home. Patients with signs of peritonitis, systemic infection, septic shock as well as those whose diagnosis is unclear should be referred urgently to hospital. Patients who are systemically unwell with renal stones are more likely to have an infected and obstructed urinary tract system that needs urgent imaging and possible drainage. All patients who are managed at home should have renal tract imaging within a week by fast track referral to radiology or as an urgent urology outpatient referral as per local guidelines to rule out an obstructed urinary system. Patients with recurrent stones should be advised to maintain a copious fluid intake (>2 L/day) to reduce the concentration of the urine. A reduction in salt intake (ideally

The importance of validating the diagnosis of coronary heart disease when measuring secondary prevention:a cross-sectional study in general practice

To compare levels of recorded risk factors and drug treatment between patients with validated and non-validated diagnoses of coronary heart disease (CHD) in Northern Ireland.

Mood congruent psychotic symptoms and specific cognitive deficits in carriers of the novel schizophrenia risk variant at MIR-137

Objective: The Schizophrenia Psychiatric Genome-wide Association (GWAS) Consortium recently reported on five novel schizophrenia susceptibility loci. The most significant finding mapped to a micro-RNA, MIR-137, which may be involved in regulating the function of other schizophrenia and bipolar disorder susceptibility genes. Method: We genotyped 821 patients with confirmed DSM-IV diagnoses of schizophrenia, bipolar affective disorder I and schizoaffective disorder for the risk SNP (rs1625579) and investigated the clinical profiles of risk allele carriers using a within-case design. We also assessed neurocognitive performance in a subset of cases (n=399) and controls (n=171). Results: Carriers of the risk allele had lower scores for an OPCRIT-derived positive symptom factor (p=0.04) and lower scores on a lifetime measure of psychosis incongruity (p=0.017). Risk allele carriers also had more cognitive deficits involving episodic memory and attentional control. Conclusion: This is the first evidence that the MIR-137 risk variant may be associated with a specific subgroup of psychosis patients. Although the effect of this single SNP was not clinically relevant, investigation of the impact of carrying multiple risk SNPs in the MIR-137 regulatory network on diagnosis and illness profile may be warranted. © 2012 Elsevier Ireland Ltd.

Collectives of diagnostic biomarkers identify high-risk subpopulations of hematuria patients: exploiting heterogeneity in large-scale biomarker data

Background: Ineffective risk stratification can delay diagnosis of serious disease in patients with hematuria. We applied a systems biology approach to analyze clinical, demographic and biomarker measurements (n = 29) collected from 157 hematuric patients: 80 urothelial cancer (UC) and 77 controls with confounding pathologies.

Methods: On the basis of biomarkers, we conducted agglomerative hierarchical clustering to identify patient and biomarker clusters. We then explored the relationship between the patient clusters and clinical characteristics using Chi-square analyses. We determined classification errors and areas under the receiver operating curve of Random Forest Classifiers (RFC) for patient subpopulations using the biomarker clusters to reduce the dimensionality of the data.

Results: Agglomerative clustering identified five patient clusters and seven biomarker clusters. Final diagnoses categories were non-randomly distributed across the five patient clusters. In addition, two of the patient clusters were enriched with patients with ‘low cancer-risk’ characteristics. The biomarkers which contributed to the diagnostic classifiers for these two patient clusters were similar. In contrast, three of the patient clusters were significantly enriched with patients harboring ‘high cancer-risk” characteristics including proteinuria, aggressive pathological stage and grade, and malignant cytology. Patients in these three clusters included controls, that is, patients with other serious disease and patients with cancers other than UC. Biomarkers which contributed to the diagnostic classifiers for the largest ‘high cancer- risk’ cluster were different than those contributing to the classifiers for the ‘low cancer-risk’ clusters. Biomarkers which contributed to subpopulations that were split according to smoking status, gender and medication were different.

Conclusions: The systems biology approach applied in this study allowed the hematuric patients to cluster naturally on the basis of the heterogeneity within their biomarker data, into five distinct risk subpopulations. Our findings highlight an approach with the promise to unlock the potential of biomarkers. This will be especially valuable in the field of diagnostic bladder cancer where biomarkers are urgently required. Clinicians could interpret risk classification scores in the context of clinical parameters at the time of triage. This could reduce cystoscopies and enable priority diagnosis of aggressive diseases, leading to improved patient outcomes at reduced costs. © 2013 Emmert-Streib et al; licensee BioMed Central Ltd.

Resource utilization and cost analyses of home-based palliative care service provision:The Niagara West End-of-Life Shared-Care Project

Background: Increasing emphasis is being placed on the economics of health care service delivery - including home-based palliative care. Aim: This paper analyzes resource utilization and costs of a shared-care demonstration project in rural Ontario (Canada) from the public health care system's perspective. Design: To provide enhanced end-of-life care, the shared-care approach ensured exchange of expertise and knowledge and coordination of services in line with the understood goals of care. Resource utilization and costs were tracked over the 15 month study period from January 2005 to March 2006. Results: Of the 95 study participants (average age 71 years), 83 had a cancer diagnosis (87%); the non-cancer diagnoses (12 patients, 13%) included mainly advanced heart diseases and COPD. Community Care Access Centre and Enhanced Palliative Care Team-based homemaking and specialized nursing services were the most frequented offerings, followed by equipment/transportation services and palliative care consults for pain and symptom management. Total costs for all patient-related services (in 2007 CAN) were 1,625,658.07 - or 17,112.19 per patient/117.95 per patient day. Conclusion: While higher than expenditures previously reported for a cancer-only population in an urban Ontario setting, the costs were still within the parameters of the US Medicare Hospice Benefits, on a par with the per diem funding assigned for long-term care homes and lower than both average alternate level of care and hospital costs within the Province of Ontario. The study results may assist service planners in the appropriate allocation of resources and service packaging to meet the complex needs of palliative care populations. © 2012 The Author(s).

Would people with Parkinson's disease benefit from palliative care?

Parkinson's disease (PD) is a chronic, progressive, degenerative disorder of the nervous system, causing substantial morbidity and has the capacity to shorten life. People with PD and their families can find the disease devastating. Nevertheless, this population of patients is not usually considered a group to be supported by palliative care specialists. But the nature of the illness and the challenges of managing its many physical and psychological effects raises questions about the potential benefits of a palliative care approach. The purpose of this project was to describe the experience of PD and consider the relevance of palliative care for this population. Semi-structured interviews were conducted with eight people with PD, 21 family caregivers and six health professionals. Five themes were developed from the data analysis: (1) emotional impact of diagnosis; (2) staying connected; (3) enduring financial hardship; (4) managing physical challenges; and (5) finding help for advanced stages. These data revealed that people with PD and family caregivers are confronted with similar issues to people with typical palliative care diagnoses, such as advanced cancer, and that a palliative approach may be helpful in the care of people with PD and their families.

Filtration procedures supplemented with mitomycin C in the management of childhood glaucoma

Aims - To evaluate the outcome of filtering procedures supplemented with mitomycin C in children with glaucoma. Methods - All patients aged 17 or younger with glaucoma who underwent filtering surgery supplemented with mitomycin C at a tertiary care centre (n = 21) during a 5 year interval (1992 and 1996) were included. One eye for each patient was entered into the analysis. The postoperative intraocular pressure (IOP), use of antiglaucoma medications, clinical stability of glaucoma, complications, and visual acuity were retrospectively evaluated. Kaplan-Meier survival curves were used to estimate the probability of success. Results - At the time of surgery mean age was 5.7 (SD 5.0) years. The most common diagnoses were trabeculodysgenesis (n = 6) and aphakic glaucoma (n = 8). Mean IOP before surgery was 35.7 (10.5) mmHg. Average length of follow up was 18.6 (14.7) months. The probability of having IOP less than 21 mmHg with no antiglaucoma medications and with clinically stable glaucoma 1 year after surgery was 76.9% in phakic eyes (n = 13) and 0% in aphakic eyes (n = 8). A phakic patient with Sturge-Weber's syndrome had choroidal effusion after surgery that resolved spontaneously. In the aphakic group one patient had retinal detachment and another developed an encapsulated bleb. Visual acuity deteriorated in one patient. Conclusion - A guarded filtration procedure with mitomycin C is relatively successful in phakic children with glaucoma, but unsuccessful in aphakic ones.

Direct costs of glaucoma and severity of the disease:A multinational long term study of resource utilisation in Europe

Background: Resource utilisation and direct costs associated with glaucoma progression in Europe are unknown. As population progressively ages, the economic impact of the disease will increase. Methods: From a total of 1655 consecutive cases, the records of 194 patients were selected and stratified by disease severity. Record selection was based on diagnoses of primary open angle glaucoma, glaucoma suspect, ocular hypertension, or normal tension glaucoma; 5 years minimum follow up were required. Glaucoma severity was assessed using a six stage glaucoma staging system based on static threshold visual field parameters. Resource utilisation data were abstracted from the charts and unit costs were applied to estimate direct costs to the payer. Resource utilisation and estimated direct cost of treatment, per person year, were calculated. Results: A statistically significant increasing linear trend (p = 0.018) in direct cost as disease severity worsened was demonstrated. The direct cost of treatment increased by an estimated €86 for each incremental step ranging from €455 per person year for stage 0 to €969 per person year for stage 4 disease. Medication costs ranged from 42% to 56% of total direct cost for all stages of disease. Conclusions: These results demonstrate for the first time in Europe that resource utilisation and direct medical costs of glaucoma management increase with worsening disease severity. Based on these findings, managing glaucoma and effectively delaying disease progression would be expected to significantly reduce the economic burden of this disease. These data are relevant to general practitioners and healthcare administrators who have a direct influence on the distribution of resources.

Clinical features of psychotic disorders and polymorphisms in HT2A, DRD2, DRD4, SLC6A3 (DAT1), and BDNF:a family based association study

Schizophrenia is clinically heterogeneous and multidimensional, but it is not known whether this is due to etiological heterogeneity. Previous studies have not consistently reported association between any specific polymorphisms and clinical features of schizophrenia, and have primarily used case-control designs. We tested for the presence of association between clinical features and polymorphisms in the genes for the serotonin 2A receptor (HT2A), dopamine receptor types 2 and 4, dopamine transporter (SLC6A3), and brain-derived neurotrophic factor (BDNF). Two hundred seventy pedigrees were ascertained on the basis of having two or more members with schizophrenia or poor outcome schizoaffective disorder. Diagnoses were made using a structured interview based on the SCID. All patients were rated on the major symptoms of schizophrenia scale (MSSS), integrating clinical and course features throughout the course of illness. Factor analysis revealed positive, negative, and affective symptom factors. The program QTDT was used to implement a family-based test of association for quantitative traits, controlling for age and sex. We found suggestive evidence of association between the His452Tyr polymorphism in HT2A and affective symptoms (P = 0.02), the 172-bp allele of BDNF and negative symptoms (P = 0.04), and the 480-bp allele in SLC6A3 (= DAT1) and negative symptoms (P = 0.04). As total of 19 alleles were tested, we cannot rule out false positives. However, given prior evidence of involvement of the proteins encoded by these genes in psychopathology, our results suggest that more attention should be focused on the impact of these alleles on clinical features of schizophrenia.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information is invaluable for an accurate clinical diagnosis of RP due to its high genetic and clinical heterogeneity. Using a gene capture panel that covers 163 of the currently known retinal disease genes, including 48 RP genes, we performed a comprehensive molecular screening in a collection of 123 RP unsettled probands from a wide variety of ethnic backgrounds, including 113 unrelated simplex and 10 autosomal recessive RP (arRP) cases. As a result, 61 mutations were identified in 45 probands, including 38 novel pathogenic alleles. Interestingly, we observed that phenotype and genotype were not in full agreement in 21 probands. Among them, eight probands were clinically reassessed, resulting in refinement of clinical diagnoses for six of these patients. Finally, recessive mutations in CLN3 were identified in five retinal degeneration patients, including four RP probands and one cone-rod dystrophy patient, suggesting that CLN3 is a novel non-syndromic retinal disease gene. Collectively, our results underscore that, due to the high molecular and clinical heterogeneity of RP, comprehensive screening of all retinal disease genes is effective in identifying novel pathogenic mutations and provides an opportunity to discover new genotype-phenotype correlations. Information gained from this genetic screening will directly aid in patient diagnosis, prognosis, and treatment, as well as allowing appropriate family planning and counseling.

Potentially inappropriate prescribing among older people in the United Kingdom

Background: Potentially inappropriate prescribing (PIP) in older people is associated with increases in morbidity, hospitalisation and mortality. The objective of this study was to estimate the prevalence of and factors associated with PIP, among those aged ≥70 years, in the United Kingdom, using a comprehensive set of prescribing indicators and comparing these to estimates obtained from a truncated set of the same indicators.

Methods: A retrospective cross-sectional study was carried out in the UK Clinical Practice Research Datalink (CPRD), in 2007. Participants included those aged ≥ 70 years, in CPRD. Fifty-two PIP indicators from the Screening Tool of Older Persons Potentially Inappropriate Prescriptions (STOPP) criteria were applied to data on prescribed drugs and clinical diagnoses. Overall prevalence of PIP and prevalence according to individual STOPP criteria were estimated. The relationship between PIP and polypharmacy (≥4 medications), comorbidity, age, and gender was examined. A truncated, subset of 28 STOPP criteria that were used in two previous studies, were further applied to the data to facilitate comparison.

Results: Using 52 indicators, the overall prevalence of PIP in the study population (n = 1,019,491) was 29%. The most common examples of PIP were therapeutic duplication (11.9%), followed by use of aspirin with no indication (11.3%) and inappropriate use of proton pump inhibitors (PPIs) (3.7%). PIP was strongly associated with polypharmacy (Odds Ratio 18.2, 95% Confidence Intervals, 18.0-18.4, P < 0.05). PIP was more common in those aged 70–74 years vs. 85 years or more and in males. Application of the smaller subset of the STOPP criteria resulted in a lower PIP prevalence at 14.9% (95% CIs 14.8-14.9%) (n = 151,598). The most common PIP issues identified with this subset were use of PPIs at maximum dose for > 8 weeks, NSAIDs for > 3 months, and use of long-term neuroleptics.

Conclusions: PIP was prevalent in the UK and increased with polypharmacy. Application of the comprehensive set of STOPP criteria allowed more accurate estimation of PIP compared to the subset of criteria used in previous studies. These findings may provide a focus for targeted interventions to reduce PIP.