Can ambulatory emergency care help to streamline services?

This article discusses four models of ambulatory emergency care (AEC), a form of clinical care that allows practitioners to assess, diagnose, treat and discharge patients on the same days that they present to emergency departments. The article recommends one model in particular, the process model, and sets out four questions practitioners who want to deliver AEC should ask of patients at the point of referral.

Patient experience. Quick decisions mean a quick exit.

Patients admitted to A&E in the evening can stay in hospital up to four days longer than morning admissions. Trusts can take targeted action during the assessment phase to reduce patient stays, explain Seamus McGirr and colleagues

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome translocation (46, XY,t(2;11)(p13;q21)mat) involving the previously implicated critical region. We postulated that this individual was a compound heterozygote, carrying one copy of a gene disrupted by the translocation and the other copy disrupted by an intragenic mutation. We mapped the 2p13 breakpoint on the maternal allele to a genomic fragment of 1.7 kb which contains exon 4 and the start of exon 5 of a newly discovered gene (ALMS1); we detected a frameshift mutation in the paternal copy of the gene. The 12.9-kb transcript of ALMS1 encodes a protein of 4,169 amino acids whose function is unknown. The protein contains a large tandem-repeat domain comprising 34 imperfect repetitions of 47 amino acids. We have detected six different mutations (two nonsense and four frameshift mutations causing premature stop codons) in seven families, confirming that ALMS1 is the gene underlying Alström syndrome. We believe that ALMS1 is the first human disease gene characterized by autosomal recessive inheritance to be identified as a result of a balanced reciprocal translocation.

Radiologic follow-up of non-functioning pituitary adenomas: rationale and cost effectiveness.

Patients with non-functioning pituitary adenomas (NFPAs) are followed-up with serial endocrine, ophthalmologic and radiological assessment. There is a lack of evidence based guidance regarding the frequency and duration of radiological assessment during follow-up. We retrospectively analysed the details of follow-up radiological scanning in a cohort of patients diagnosed with NFPAs in an attempt to devise a rational and cost effective scanning schedule for use in routine clinical practice. 49 patients were identified using the hospital endocrine register. A detailed review of the case notes and follow up scans was undertaken. The data was analysed using descriptive statistics and Kaplan-Meier survival analysis using SPSS ver 13.0 (SPSS Inc. Chicago, IL). The time in which the tumor size in the followed up patients reached a state of 'no change' which persisted for at least two further scans was calculated. 41 patients, followed up for a median duration of 70 months were ultimately analysed. 33 patients had surgery while eight were conservatively managed. The time taken by 50% of tumors to achieve a steady state of 'no change' in tumor size on scans was 30 months. 90% of tumours achieved this state in 88 months. Surgical management did not significantly influence the time required to attain the steady state on a Kaplan-Meier analysis (Log rank test P = 0.06). NFPAs need extended follow-up since late recurrences after treatment are known. Routine radiologic follow up may be uneconomical after the steady state is achieved. Regular Goldmann perimetry beyond this time may be of greater use in selecting patients who actually need repeat surgical debulking. This method of follow up is likely to be more cost effective and reduce the number of scans performed.

The acute medical take: an outpatient specialty.

The traditional model of acute medical care involves the admission of patients to hospital to be assessed by a consultant and facilitate access to investigation and treatment. This model has, however, led to a number of problems. Firstly, there is high bed occupancy which restricts access and increases the risk of healthcare-acquired infection. Secondly, only limited training opportunities are offered for junior medical staff in this setting. Thirdly, patients often receive care from a 'generalist' rather than a 'specialist' although there is increasing evidence that the most appropriate specialist provides the best patient care. Many medical emergencies could be managed in the outpatient (ambulatory) setting if the appropriate facilities were available including staff, environment and access to investigations. Emergency outpatient clinics can provide gold standard emergency care by providing structure to the acute take, ensuring access to the most appropriate specialist and training opportunities for junior medical staff.

Ambulatory emergency care - improvement by design.

Ambulatory emergency care (AEC) has been developed by clinicians as a means of providing emergency care without the traditional bed base of a hospital. Given that AEC is provided in a clinic-style setting, it can continue to operate during periods of high bed occupancy, alleviating bed pressures and continuing to provide timely care for selected patients. Although different models of AEC have developed according to local context, there are common principles that apply to AEC services, including early access to senior decision-makers, opening hours matching demand, access to diagnostics, close collaboration with other clinical services, a mixed workforce and patient selection processes. Some of the key AEC developments have been related to technology, including high-sensitivity troponin, low-molecular-weight heparins and computer tomography (CT) pulmonary angiography. Risk stratification tools are useful for assessing the appropriateness of using AEC as a care model for patients.

An Immortalized Genetic Mapping Population for Perennial Ryegrass: A Resource for Phenotyping and Complex Trait Mapping.

To address the lack of a truly portable, universal reference mapping population for perennial ryegrass, we have been developing a recombinant inbred line (RIL) mapping population of perennial ryegrass derived via single seed descent from a well-characterized F2 mapping population based on genetically distinct inbred parents in which the natural self-incompatibility (SI) system of perennial ryegrass has been overcome. We examined whether it is possible to create a genotyping by sequencing (GBS) based genetic linkage map in a small population of the F6 generation of this population. We used 41 F6 genotypes for GBS with PstI/MspI-based libraries. We successfully developed a genetic linkage map comprising 6074 SNP markers, placing a further 22080 presence and absence variation (PAV) markers on the map. We examined the resulting genetic map for general and RIL specific features. Overall segregation distortion levels were similar to those experienced in the F2 generation, but segregation distortion was reduced on linkage group 6 and increased on linkage group 7. Residual heterozygosity in the F6 generation was observed at a level of 5.4%. There was a high proportion of chromosomes (30%) exhibiting the intact haplotype of the original inbred parents of the F1 genotype from which the population is derived, pointing to a tendency for chromosomes to assort without recombining. This could affect the applicability of these lines and might make them more suitable for situations where repressed recombination is an advantage. Inter- and intra-chromosomal linkage disequilibrium (LD) analysis suggested that the map order was robust. We conclude that this RIL population, and subsequent F7 and F8 generations will be useful for genetic analysis and phenotyping of agronomic and biological important traits in perennial ryegrass.

British Thoracic Society Guideline for the initial outpatient management of pulmonary embolism.

The following is a summary of the recommendations and good practice points for the BTS Guideline for the initial outpatient management of pulmonary embolism. Please refer to the full guideline for full information about each section.

The burden of mortality attributable to diabetes: realistic estimates for the year 2000.

OBJECTIVE: To estimate the global number of excess deaths due to diabetes in the year 2000. RESEARCH DESIGN AND METHODS: We used a computerized generic formal disease model (DisMod II), used by the World Health Organization to assess disease burden through modeling the relationships between incidence, prevalence, and disease-specific mortality. Baseline input data included population structure, age- and sex-specific estimates of diabetes prevalence, and available published estimates of relative risk of death for people with diabetes compared with people without diabetes. The results were validated with population-based observations and independent estimates of relative risk of death. RESULTS: The excess global mortality attributable to diabetes in the year 2000 was estimated to be 2.9 million deaths, equivalent to 5.2% of all deaths. Excess mortality attributable to diabetes accounted for 2-3% of deaths in poorest countries and over 8% in the U.S., Canada, and the Middle East. In people 35-64 years old, 6-27% of deaths were attributable to diabetes. CONCLUSIONS: These are the first global estimates of mortality attributable to diabetes. Globally, diabetes is likely to be the fifth leading cause of death.

Cause-specific mortality in a population with diabetes: South Tees Diabetes Mortality Study.

OBJECTIVE: To describe the mortality of a population with diabetes compared with the local nondiabetic population, using age-, sex-, and cause-specific death rates and relative and absolute differences in death rates. RESEARCH DESIGN AND METHODS: A population-based cohort of 4,842 people with diabetes living within South Tees, U.K., was identified and followed from 1 January 1994 to 31 December 1999. Causes of death were obtained from death certificates, and mortality rates were compared with the nondiabetic population of the same area for the same time period. RESULTS: There were 1,205 deaths (24.9%) in the study population during the 6 years of study. For type 2 diabetes, mortality from cardiovascular causes was significantly increased in both sexes and at all ages. Relative death rates for the age band 40-59 years were 5.47 (95% CI 4.18-7.15) for men and 5.60 (3.44-9.14) for women. The relative death rates declined with age for both sexes, but absolute excess mortality increased with age. There were no consistent differences in noncardiovascular death rates, other than for renal disease. Similar outcomes were found for type 1 diabetes, although these results were limited by a much smaller population size. People with diabetes and renal impairment had significantly higher mortality than people with diabetes alone, with a rate ratio of 7.27 for people with type 2 diabetes aged 40-59 years. CONCLUSIONS: In an area of the U.K. with high cardiovascular death rates, people with diabetes had significantly higher cardiovascular death rates than people without diabetes. Interventions targeted at cardiovascular risk factors should be used to try and reduce this excess premature mortality, which is especially high in those with renal impairment.

Relationship between non-alcoholic fatty liver disease and kidney function: a communication between two organs that needs further exploration.

Non-alcoholic fatty liver disease (NAFLD) is now regarded as hepatic component of the metabolic syndrome. In addition, NAFLD has emerged as a growing public health problem worldwide and an important challenge for health authorities. NAFLD is associated with insulin resistance and hyperlipidaemia and this appears as the potential pathogenic role of NAFLD in the development and progression of chronic kidney disease (CKD). Interestingly, NAFLD and CKD may share common pathogenic mechanisms like obesity, abdominal obesity, insulin resistance, hyperlipidaemia, hypertension and inflammation. Importantly, the association between NAFLD and CKD is also being shown to be independent of obesity, hypertension, and other potentially confounding features of the metabolic syndrome, and it occurs both in patients without diabetes and in those with diabetes. How the liver communicates with kidney in individuals with NAFLD is not well known and indeed an urgent research is needed to further elucidate the complex and intertwined mechanisms that link NAFLD and CKD. One potential pathway for future exploration may be inflammatory mediators in NAFLD that may lead to deterioration in renal function. In addition, large clinical studies are needed to study the impact of NAFLD on the progression of CKD and in particular during dialysis and transplant and importantly how treatment of NAFLD and weight loss will have reversible potential benefit in improving renal function.

Statins as potential treatment for cholesterol gallstones: an attempt to understand the underlying mechanism of actions.

INTRODUCTION: Statin therapy is widely used across the globe for the treatment and prevention of cardiovascular disease (CVD). It is well established that statin therapy is associated with significant decreases in low-density lipoprotein cholesterol (LDL-C) and plasma cholesterol levels. Cholesterol gallstones are a common problem, resulting in hospital admission and surgery, throughout western healthcare systems. AREAS COVERED: This review describes the mechanisms, and addresses the potential, for statins to be used as a treatment for gallstones. Medline was searched for the risk factors and treatment of cholesterol gallstones. EXPERT OPINION: Obesity, metabolic syndrome, non-alcoholic fatty liver disease (NAFLD), insulin resistance and high-fat diets (unsaturated fats) rich in cholesterol are all associated risk factors for cholesterol gallstones. In view of the high prevalence of cholesterol gallstones, there is an urgent need to understand whether pharmacological therapies can be harnessed for the treatment of cholesterol gallstones. Gallstones are shown to be associated with an increased risk, not only of mortality, but also of CVD. Statins, widely used in prevention of CVD and hypercholesteremia, have been shown to dissolve cholesterol gallstones in animal models and human studies, highlighting the potential for a pharmacological therapy for gallstones. More studies are required to understand the role of statins in the treatment of gallstones and for comparison with current treatment strategies.

The mitochondrial genome of a cytoplasmic male sterile line of perennial ryegrass (Lolium perenne L.) contains an integrated linear plasmid-like element.

The mitochondrial genome of a cytoplasmic male sterile line of perennial ryegrass (Lolium perenne L.) was shown to contain a 9.6 kb element, LpCMSi, that is absent in the mitochondrial genome of fertile lines. LpCMSi contains the previously described chimeric gene orfC9, and three additional open reading frames (orfs) encoding a unique 45 kDa predicted protein of unknown function, a family B-like DNA polymerase (LpDpo), and a phage-type single subunit RNA polymerase (LpRpo). The latter two proteins shared significant similarity with DNA and RNA polymerases encoded by extrachromosomal linear mitochondrial plasmids of plants and fungi, and also to integrated plasmid-like sequences found in various plant and fungal mitochondrial genomes. Transcripts for both LpDpo and LpRpo were detected by RT-PCR in mitochondria of the CMS line. PCR-based investigations further revealed the presence of LpCMSi-like sequences in fertile L. perenne lines that are likely maintained as low-copy number extrachromosomal replicons. The absence of integrated forms of LpCMSi in the mitochondrial genome of fertile lines suggests that LpCMSi integration adjacent to the atp9 gene may be responsible, directly or indirectly, for the sterility phenotype of the CMS line.

Diabetes- and nondiabetes-related lower extremity amputation incidence before and after the introduction of better organized diabetes foot care: continuous longitudinal monitoring using a standard method.

OBJECTIVE: There is a lack of continuous longitudinal population-based data on lower extremity amputation (LEA) in the U.K. We present here accurate data on trends in diabetes-related (DR) LEAs and non-DRLEAs in the South Tees area over a continuous 5-year period. RESEARCH DESIGN AND METHODS: All cases of LEA from 1 July 1995 to 30 June 2000 within the area were identified. Estimated ascertainment using capture-recapture analysis approached 100% for LEAs in the area. Data were collected longitudinally using the standard method of the Global Lower Extremity Amputation Study protocol. RESULTS: Over 5 years there were 454 LEAs (66.3% men) in the South Tees area, of which 223 were diabetes related (49.1%). Among individuals with diabetes, LEA rates went from 564.3 in the first year to 176.0 of 100,000 persons with diabetes in the fifth year. Over the same period, non-DRLEAs increased from 12.3 to 22.8 of 100,000 persons without diabetes. The relative risk of a person with diabetes undergoing an LEA went from being 46 times that of a person without diabetes to 7.7 at the end of the 5 years. The biggest improvement in LEA incidence was seen in the reduction of repeat major DRLEAs. CONCLUSIONS: Our data show that in the South Tees area at a time when major non-DRLEA rates increased, major DRLEA rates have fallen. These diverging trends mark a significant improvement in care for patients with diabetic foot disease as a result of better organized diabetes care.

Pituitary apoplexy: a review of clinical presentation, management and outcome in 45 cases.

OBJECTIVE: To review clinical presentation, management and outcomes following different therapies in patients with pituitary apoplexy. METHODS: Retrospective analysis of case-records of patients with classical pituitary apoplexy treated in our hospitals between 1983-2004. RESULTS: Forty-five patients (28 men; mean age 49 years, range 16-72 years) were identified. Only 8 (18%) were known to have pituitary adenomas at presentation. Thirty-four (81%) patients had hypopituitarism at presentation. CT and MRI identified pituitary apoplexy in 28% and 91% cases, respectively. Twenty-seven (60%) patients underwent surgical decompression, whilst 18 (40%) were managed conservatively. Median time from presentation to surgery was 6 days (range 1-121 days). Patients with visual field defects were more likely than those without these signs to be managed surgically (p = 0.01). Complete or near-complete resolution occurred in 93% (13/14), 94% (15/16) and 93% (13/14) of the surgically treated patients with reduced visual acuity, visual field deficit and ocular palsy, respectively. All patients with reduced visual acuity (4/4), visual field deficit (4/4) and ocular palsy (8/8) in the conservative group had complete or near-complete recovery. Only 5 (19%) patients in the surgical group and 2 (11%) in the conservative group had normal pituitary function at follow up. One (4%) patient in the surgical group and 4 (22%) in the conservative group had a recurrence of pituitary adenoma. CONCLUSIONS: This large series suggests that the patients with classical pituitary apoplexy, who are without neuro-ophthalmic signs or exhibit mild and non-progressive signs, can be managed conservatively in the acute stage.