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Biomedical subjects

K M Porter

Publications and source records attributed to K M Porter.

At least 19 recordsLinked to original sources

Ultra-high resolution array painting facilitates breakpoint sequencing.

OBJECTIVE: To describe a considerably advanced method of array painting, which allows the rapid, ultra-high resolution mapping of translocation breakpoints such that rearrangement junction fragments can be amplified directly and sequenced. METHOD: Ultra-high resolution array painting involves the hybridisation of probes generated by the amplification of small numbers of flow-sorted derivative chromosomes to oligonucleotide arrays designed to tile breakpoint regions at extremely high resolution. RESULTS AND DISCUSSION: How ultra-high resolution array painting of four balanced translocation cases rapidly and efficiently maps breakpoints to a point where junction fragments can be amplified easily and sequenced is demonstrated. With this new development, breakpoints can be mapped using just two array experiments: the first using whole-genome array painting to tiling resolution large insert clone arrays, the second using ultra-high-resolution oligonucleotide arrays targeted to the breakpoint regions. In this way, breakpoints can be mapped and then sequenced in a few weeks.

Adult↗

Are we able to comply with the NICE head injury guidelines?

BACKGROUND: An estimated 120,000 patients are admitted to hospital in England and Wales each year for neurological observations following a head injury. The National Institute for Clinical Excellence (NICE) has issued guidelines on the quality and frequency of neurological observations that should be made. OBJECTIVE: Review of frequency and quality of observations in one trauma unit. STUDY DESIGN: Prospective audit of current practice. METHOD: Data on 100 consecutive patients admitted to a trauma unit for neurological observations were audited to monitor the consistency and frequency of neurological observations requested by the admitting doctor. Medical staff had previously been briefed on the recommendations of the NICE head injury guidelines. RESULTS: A detailed evaluation revealed inconsistency and inexplicable gaps in observations. No single set of observations was complete. Sequential regular monitoring was difficult for many reasons, bringing into question the safety and reliability of current practice. CONCLUSIONS: The introduction of the new guidelines which recommend more frequent neurological observations has major staffing implications, where underperformance raises significant clinical governance issues. All hospitals admitting patients with head injuries should have an established protocol based on the NICE guidelines with observations recorded on an appropriately designed data collection form. Trained nursing staff have enormous work and time pressures including direct patient care, ward rounds, drug rounds, administration, management, and responding to emergencies. The development of a competency based training programme for auxiliary nursing staff to undertake neurological observations, including when to report concerns, is one solution to reduce the pressure on trained nursing staff.

Adolescent↗

Passing the Diploma in Immediate Medical Care of the Royal College of Surgeons of Edinburgh.

The Diploma in Immediate Care of the Royal College of Surgeons of Edinburgh is increasingly recognised as a gold standard for immediate care practitioners, including doctors with a significant involvement in prehospital care, paramedics who wish to enhance their knowledge base or obtain the Diploma as an entry requirement for a post registration degree, and for nurses who have a recognised and developing role in the evolving emergency medical services. This paper provides information about the Diploma examination including eligibility, the syllabus and the components of the examination, and comments on the reason for failure and provides suggestions for training and education to enhance the candidate's opportunity of passing the examination.

Ambulatory Care↗

Prehospital management of lower limb fractures.

Lower limb fractures are common injuries in prehospital care. Untreated fractures can lead to hypovolaemic shock especially if open, and should be treated with effective haemorrhage control and splintage. A brief assessment for open fractures, deformity, and neurovascular compromise should be followed by effective analgesia, wound management, reduction (if needed), splintage, and packaging of the patient. Early appropriate management reduces the morbidity and mortality of lower limb fractures.

Algorithms↗

Emergencies in the air.

Medical emergencies in the air are topical. This study, undertaken by the Faculty of Prehospital Care at the Royal College of Surgeons of Edinburgh, analyses retrospectively consecutive medical emergencies occurring over a 6 month period on a single major international airline. Clinical problems are related to pre-existing problems (65%), new medical problems (28%), and traumatic injury (7%). The paper highlights the need for better pre-flight health advice and screening, a reminder to carry personal medication-especially for asthma-and the need to include ankle and leg exercises prior to getting out of the seat to reduce the incidence of syncope, which was responsible for 91% of new medical problems.

Adult↗

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

OBJECTIVE: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome rearrangements, map the translocation breakpoints, and report detectable genomic imbalances. METHODS: DNA microarrays were used with a resolution of 1 Mb for the detailed genome-wide analysis of the patients. Array CGH was used to screen for genomic imbalance and array painting to map chromosome breakpoints rapidly. These two methods facilitate rapid analysis of translocation breakpoints and screening for cryptic chromosome imbalance. Breakpoints of rearrangements were further refined (to the level of spanning clones) using fluorescence in situ hybridisation where appropriate. RESULTS: Unexpected additional complexity or genome imbalance was found in six of 10 patients studied. The patients could be grouped according to the general nature of the karyotype rearrangement as follows: (A) three cases with complex multiple rearrangements including deletions, inversions, and insertions at or near one or both breakpoints; (B) three cases in which, while the translocations appeared to be balanced, microarray analysis identified previously unrecognised imbalance on chromosomes unrelated to the translocation; (C) four cases in which the translocation breakpoints appeared simple and balanced at the resolution used. CONCLUSIONS: This high level of unexpected rearrangement complexity, if generally confirmed in the study of further patients, will have an impact on current diagnostic investigations of this type and provides an argument for the more widespread adoption of microarray analysis or other high resolution genome-wide screens for chromosome imbalance and rearrangement.

Cell Line↗

The DNA sequence and analysis of human chromosome 13.

Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb.

Chromosome Mapping↗

Training doctors in prehospital care: the West Midlands (UK) approach.

There is no specific structured training programme for doctors working in prehospital care in the United Kingdom. In the West Midlands (UK) a structured supervised programme has been devised, which recruits medical undergraduates and provides an educational programme and practical experience leading to the successful completion of the Diploma in Immediate Medical Care and the status of an independent prehospital care practitioner. The training scheme has successfully produced a significant number of coctors who are now practising in the West Midlands and United Kingdom.

Education, Medical, Undergraduate↗

The UK emergency department practice for spinal board unloading. Is there conformity?

INTRODUCTION: Guidelines for the management of suspected spinal injury patients from the scene of their accident to the emergency department were published in September 1998. This study was commissioned on behalf of the Faculty of Pre-hospital Care at the Royal College of Surgeons of Edinburgh, to examine the handling of patients on spinal boards on arrival in the emergency department. METHOD: In July 2000, 132 postal questionnaires were sent to the consultants of the emergency departments in the United Kingdom (UK) that receive more than 50000 patients per annum. Four simple questions related to spinal board handling were asked. RESULTS: A response rate of 63.6% was achieved and analysis showed that log roll was the technique most commonly used to remove the patient from the board in 90% of cases. In 76.3% of departments this occurred as part of secondary survey although in which part of the secondary survey that this took place was less clear. CONCLUSIONS: It is suggested that as the spine board is such a widely used piece of equipment, there should be some guidelines to standardise its use at the emergency department interface with pre-hospital care. We recommend that spinal board removal should be part of the completion of the primary survey.

Emergency Medical Services↗

A review of emergency equipment carried and procedures performed by UK front line paramedics.

OBJECTIVES: To assess which items of resuscitation equipment are carried on United Kingdom (UK) front line ambulances and what procedures paramedics are able to perform. To compare these findings with those of a previous survey in 1997. METHOD: Postal survey to the chief executives of all the UK ambulance services and direct comparison with the data from 1997. RESULTS: Nasopharyngeal airway usage (NPA) has increased (21-55%) and the laryngeal mask airway (LMA) (from 10 to 26%). No services employ the Combitube. 94% of services use a Hudson type trauma mask (increase of 17%). One service no longer allows its paramedics to deliver 12-15 l of oxygen. 68% of trust paramedics can perform needle thoracocentesis (increase of 35%). No paramedics perform chest drain insertion. All services have 14G intravenous cannulae available and 45% carry the intraosseous needle (increase of 30%). No services employ the MAST suit. There is an increase by 29% in the use of crystalloids and a decrease in the use of colloids of 22%. 23% of fluid resuscitation protocols are based upon the principles of hypotensive resuscitation. Spinal boards and extrication devices are used by 97% of services. The use of inflatable splints has decreased (38-23%). There has been a minor increase in the use of traction splints to 74% of services. The use of Entonox is universal. Nalbuphine (Nubain) is the most widely used opioid. The use of morphine/diamorphine has doubled to 10% with a further 26% to introduce their use. 29% of services have equipped some vehicles with automatic external defibrillators. CONCLUSIONS: The equipment available to UK paramedics and procedures that they may perform continues to expand. There are still variations in the basic management of airway, breathing and circulation care and only some services are keeping up to date with current medical thinking, for example the increasing use of crystalloids and hypotensive resuscitation. It remains to be seen whether the widespread use of Nalbuphine as a first line analgesic may decrease as the use of natural strong opiates becomes more widespread.

Ambulances↗

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays.

OBJECTIVE: The authors describe a method, termed array painting, which allows the rapid, high resolution analysis of the content and breakpoints of aberrant chromosomes. METHODS: Array painting is similar in concept to reverse chromosome painting and involves the hybridisation of probes generated by PCR of small numbers of flow sorted chromosomes on large insert genomic clone DNA microarrays. RESULTS: and CONCLUSIONS: By analysing patients with cytogenetically balanced chromosome rearrangements, the authors show the effectiveness of array painting as a method to map breakpoints prior to cloning and sequencing chromosome rearrangements.

Adult↗

Pre-hospital care--the evolution of a course for undergraduates.

Newly qualified doctors are ill equipped to deal with pre-hospital trauma emergencies. There is a public perception that medical education provides both experience and knowledge in this field. In Birmingham, United Kingdom (UK), committed doctors and nurses trained in pre-hospital care have evolved a specific course designed to equip the medical undergraduate to deal with pre-hospital trauma scenario. The pre-hospital trauma course for medical students has run annually from 1993 to 2000. The course caters for 200 students with a faculty of 30 instructors. Successful completion of the course which is rigorously assessed grants a certificate awarded by the Faculty of Pre-hospital Care at the Royal College of Surgeons of Edinburgh. Most importantly it equips the undergraduate with essential theoretical knowledge and practical skills to handle a pre-hospital trauma emergency.

Cardiopulmonary Resuscitation↗

Surgical emphysema over the pelvis: an unusual physical sign found on primary survey.

Open fractures of the pelvis are associated with high energy trauma and present a challenge to successful management and sometimes, early and correct diagnosis. These patients require more aggressive blood resuscitation particularly in the first 24 hours, repeated wound care operations, and often require a diverting colostomy. Usually these pelvic fractures can be distinguished from closed pelvic fractures by an open wound or lacerations of the vagina and rectum. Occasionally, however, the wounds associated with these fractures may remain undetected and the severity of the injury underestimated until complications develop. The authors believe this to be the first report of subcutaneous surgical emphysema associated with an open pelvic fracture.

Adult↗