Evaluation of questionnaire on cancer family history in general practice. Principal role of primary care is not to seek out those at increased genetic risk.
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Humans↗
Biomedical subjects
J Emery
Publications and source records attributed to J Emery.
Correlation between 31P chemical shift tensor and local structure in lithium cyclohexaphosphates Li6P6O18 x 3H2O and Li6P6O18.
To understand the surprising behavior between the variations of the P'-P-P" angles and the correlated variations of the O'-P-O" ones, two lithium cyclohexaphosphate compounds Li6P6O18 x 3H2O and Li6P6O18 are studied by solid state nuclear magnetic resonance (NMR) spectroscopy. The two compounds exhibit the same [P6O18]6- ring anions but with 3m or 1 internal symmetry, respectively. Such symmetries induce local distortions that are exhibited by NMR spectroscopy. One-dimensional (1D) NMR gives information on structural sites of 7Li and 31P ions and the crystallographic non-equivalencies are observed. Nevertheless, in the anhydrous compound, X-ray diffraction and NMR results do not completely agree and some discrepancy exists between the number of sites observed with the first technique and the number of lines exhibited in the NMR spectra either for 7Li or 31P nuclei. This problem is elucidated by using 2D double quantum NMR spectroscopy coupled with theoretical considerations. We find that the 31P chemical shift tensor is dependent on the deviations of the O-P-O angles from those in the regular tetrahedron. Within the same empirical model, we suggest that the surprising behavior between the variations of the P'-P-P" and the ones of the O'-P-O" is related to the overall charge on the PO4 group. We also find the positions of the isotropic lines for 7Li essentially depend on the site co-ordination of this nuclei.
Crystallography, X-Ray↗
Stereolithographic models of biopolymers.
Stereolithography (STL) has been used to make plastic models of the solvent accessible surfaces of biopolymers. Models have been made of proteins and proteins bound to DNA and RNA. The STL process uses a laser to photopolymerize a liquid resin. Using the ACES (accurate, clear, epoxy, solid) building technique, parts are made with minimum postcure shrinkage. Protein Data Bank files are converted to STL files that represent the surface topology of the biopolymer as a series of triangles and an index that describes their orientation. The models are useful in teaching biomolecular structure and the principle of docking. They are especially useful to the visually impaired.
Acetylcholinesterase↗
Screening for ovarian cancer.
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Biomarkers, Tumor↗
Computer support for recording and interpreting family histories of breast and ovarian cancer in primary care (RAGs): qualitative evaluation with simulated patients.
OBJECTIVES: To explore general practitioners' attitudes towards and use of a computer program for assessing genetic risk of cancer in primary care. DESIGN: Qualitative analysis of semistructured interviews and video recordings of simulated consultations. PARTICIPANTS: Purposive sample of 15 general practitioners covering a range of computer literacy, interest in genetics, age, and sex. INTERVENTIONS: Each doctor used the program in two consultations in which an actor played a woman concerned about her family history of cancer. Consultations were videotaped and followed by interviews with the video as a prompt to questioning. MAIN OUTCOME MESURESs: Use of computer program in the Consultation. RESULTS: The program was viewed as an appropriate application of information technology because of the complexity of cancer genetics and a sense of "guideline chaos" in primary care. Doctors found the program easy to use, but it often affected their control of the consultation. They needed to balance their desire to share the computer screen with the patient, driven by their concerns about the effect of the computer on doctor-patient communication, against the risk of premature disclosure of bad news. CONCLUSIONS: This computer program could provide the necessary support to assist assessment of genetic risk of cancer in primary care. The potential impact of computer software on the consultation should not be underestimated. This study highlights the need for careful evaluation when developing medical information systems.
Adult↗
Outcome of primary radiocephalic fistula for haemodialysis.
BACKGROUND: Patient characteristics may help select the most appropriate type of permanent vascular access for haemodialysis. The aim of this study was to assess the influence of patient-related variables on the outcome of radiocephalic fistulas. METHODS: Over 3 years 107 consecutive patients underwent formation of a radiocephalic fistula for permanent haemodialysis access. Patients receiving prosthetic, ulnar, brachial or secondary fistulas were excluded. Patients were followed prospectively until access failure, transplantation or death, or for a minimum of 6 months (median follow-up 24 months). RESULTS: Primary patency was 69 per cent at 12 months and 56 per cent at 24 months. Endovascular and surgical intervention led to limited improvement in secondary patency to 63 per cent at 24 months. Regression analysis showed that fistula failure was more common in women (P = 0.02), diabetics (P = 0.03) and young patients (P = 0.02). By life-table analysis, primary and secondary patency were significantly better (P = 0.01) for men and non-diabetics, while the outcome was similar for all age groups. CONCLUSION: One-third of radiocephalic fistulas fail irreversibly within 2 years. Failure is more likely in women and diabetic patients.
Aged↗
The 'new genetics' and primary care: GPs' views on their role and their educational needs.
BACKGROUND: Given the limited specialist resources available to cope with the rising demand for genetic services, it has been proposed that at least some of these services are provided by primary care in the future. OBJECTIVE: We aimed to explore GPs' attitudes towards new developments in genetics, to establish the role they envisage for primary care and to clearly define the education, information and training needed to support them in this role. METHODS: We carried out a qualitative study with GPs using four focus groups (26 GPs) and 15 individual semi-structured interviews. RESULTS: GPs perceive genetics as an important and increasingly relevant topic for primary care. Views on the appropriate level of involvement for primary care are mixed. GPs currently lack the relevant knowledge and skills to manage patients concerned about their family history. Other potential barriers to increasing primary care involvement included the time and costs involved, and ethical and legal concerns. CONCLUSION: If primary care is to become more involved in the delivery of genetic services in the future, then a major educational effort is required to raise awareness of the potential scope and limitations of new developments.
Attitude of Health Personnel↗
A systematic review of the literature exploring the role of primary care in genetic services.
BACKGROUND: In response to growing demands on genetics departments and advances in genetic medicine, it has been proposed that primary care should provide a frontline service in clinical genetics. However, there are concerns that primary care may be unwilling or ill prepared to take on this new role. OBJECTIVES: This study aimed to review systematically the literature exploring the role of primary care in delivering genetic services, and define potential methods of supporting primary care in the provision of genetics services. METHODS: Seven electronic databases were searched. This was complemented by contacting experts in the field and handsearching reference lists. In total, 230 papers were identified, including traditional reviews, of which 96 were examined in detail. Fifty-one papers are included in this review. On account of the heterogeneity of papers identified, we conducted a qualitative synthesis of the results, focusing on five key questions. RESULTS: GPs accept that they have an increasing role to play in genetics, but lack confidence in their ability to do so because of limited knowledge of clinical genetics. Evidence from pilot studies of cystic fibrosis screening provides the strongest evidence for the feasibility of providing genetic services in primary care. CONCLUSIONS: Although genetic issues currently constitute a relatively small part of the overall workload in primary care, this will almost certainly change in the light of new genetic discoveries. Educational programmes and referral guidelines, computer decision support and genetic nurse specialist outreach clinics may provide useful methods of supporting GPs in the new field of primary care genetics.
Attitude of Health Personnel↗
Capsular opacification after cataract surgery.
Posterior-capsule opacification, by far the most common complication of primary cataract surgery, continues to stimulate important work toward understanding its causes, preventing it, and effectively treating it. Of special note here are a report by Koch and Kohnen that a combination of vitrectomy and posterior capsulorhexis is required to inhibit posterior-capsule opacification in pediatric patients; work by Nishi et al. toward the dream of replacing the cataractous lens with a flexible artificial lens, supported by the natural capsular bag; and methods by Tetz et al. and Pande et al. for precise quantification of posterior-capsule opacification.
Animals↗
Computer support for genetic advice in primary care.
General practitioners (GPs) are under increasing pressure to advise patients about genetic risk. Secondary care lacks the resources to deal with the increasing number of referrals for genetic counselling, and thus recommendations have been made to develop primary care genetics. But for most GPs, genetics is unfamiliar territory. Computers could help general practice to provide a genetics service by simplifying the construction and assessment of family trees and by implementing management guidelines. No programs have been written specifically for primary care genetics, but a range of software exists for secondary care. This paper discusses the types of program already available and how they relate to the needs of primary care. Currently available software offers only elements of the outlined 'ideal' program for primary care and may be too complex for a general practice setting. Most importantly, none provide decision support concerning management based on the level of risk, even though this may be the most valuable element. Genetics is an appropriate area for decision support software in general practice, but it would be wrong to assume that this alone is the key to developing primary care genetics. Additional educational strategies for GPs will be required, and the attitudes of patients to receiving expert advice from a computer must be considered. Current practice computer systems will have to develop so they can communicate with Windows-based expert systems, and changes in existing surgery hardware may be necessary. Existing genetics software provides a starting point from which to derive an appropriate system for general practice. A carefully developed decision-support system could empower GPs to meet the challenge of offering a high-quality genetics service in primary care.
Decision Making, Computer-Assisted↗
Expanding the role of the family history in primary care.
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Family↗
Capsular opacification after cataract surgery and capsule.
The lens capsule, the keystone of modern cataract surgery, has been the subject of some important and interesting investigations over the past year. This review addresses 1) inhibition of posterior capsule opacification (surgical techniques, intraocular lens design, and pharmacologic methods); 2) treatment of posterior capsule opacification; and 3) characteristics of the capsule. Of special interest are techniques for inhibiting posterior capsule opacification in pediatric patients by optic capture through a posterior capsulorhexis, the concept that sharp optic edges markedly decrease posterior capsule opacification as compared with round-edged implants, and promising work demonstrating that an immunotoxin may be effective in prevention of posterior capsule opacification.
Adolescent↗
Characterization of a novel TNF-like ligand and recently described TNF ligand and TNF receptor superfamily genes and their constitutive and inducible expression in hematopoietic and non-hematopoietic cells.
A novel (TL1), a recently described (TL2) TNF-like, and three recently described TNF receptor-like (TR1, TR2, TR3) molecules were identified by searching a cDNA database. TL1 and TL2 are type-II membrane proteins. TR2 and TR3 are type-I membrane proteins whereas TR1 appears to be a secreted protein. TL1, TL2, TR2 and TR3 were expressed in hematopoietic cells, whereas TR1 was not. Northern blots hybridized with the cDNA probes revealed multiple forms of RNA as well as inducible expression of TL1, TL2, TR2 and TR3. TL2 and TR3, in particular, were highly induced in activated CD4+ T cells. Radiation hybrid mapping localized TR1 and TL2 to 8q24 and 3q26, respectively, which are not near any known superfamily members. TL1 was mapped to 9q32, near CD30L (9q33) and TR2 and TR3 mapped to the region of chromosome 1 that contains the TNFR-II, 4-1BB, OX40 and CD30 gene cluster at 1p36. Only TR3 in this cluster possesses a death domain. Southern blot analysis revealed the presence of TL and TR genes in different mammalian species. TL2, TR1, TR2 and TR3 were recently described by others as TRAIL/Apo-2L, OPG, HVEM and DR3/WSL-1/Apo-3/TRAMP/LARD, respectively.
Amino Acid Sequence↗
Expression of the Sox11 gene in mouse embryos suggests roles in neuronal maturation and epithelio-mesenchymal induction.
Sry, the mammalian Y-linked testis determining gene, is a member of a family of genes known as Sox genes, which encode transcription factors related by a DNA-binding motif termed the HMG box. Sox genes are known to have diverse roles in vertebrate differentiation and development. We report here the cloning and characterisation of one of these genes, Sox11, in mice. In addition to an N-terminal HMG box domain, the deduced SOX11 protein contains a number of highly conserved C-terminal motifs, which may function in transcriptional regulation. Expression of Sox11 in mouse embryos was prominent in the periventricular cells of the central nervous system, suggesting a role in neuronal maturation. Expression was also observed in a wide range of tissues involved in epithelial-mesenchymal interactions, suggesting an additional role in tissue modelling during development.
Amino Acid Sequence↗
Familial breast cancer.
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Breast Neoplasms↗
A prospective, longitudinal study of emotions and relationships in in-vitro fertilization treatment.
Emotional and relationship assessments were completed by 144 couples at intake for in-vitro fertilization (IVF) and 6 months after either the identification of pregnancy or the discontinuation of treatment following three unsuccessful cycles. Women also completed emotional assessments at the time of pre-oocyte recovery and post-embryo replacement within each treatment cycle. At intake, women were more anxious than their partners and comparative norms, and were less positive than men about their marital and sexual relationships. Initial emotional assessments were not related to subsequent pregnancy, but at follow-up those who were pregnant were less depressed and more positive about their relationships. Within treatment cycles scores for women were higher after embryo replacement and the failure of pregnancy. First and last treatment cycles were associated with greater anxiety. High levels of confusion and bewilderment found during the initial cycle may indicate the need for better pretreatment information. Services must recognize the presence of high anxiety at intake and provide psychological care for those identified as particularly distressed. Emotional difficulties after failure of IVF treatment can be considered to be iatrogenic effects, and psychological services should be provided to minimize any negative psychological consequences of treatment.
Adult↗
VATS debridement versus thoracotomy in the treatment of loculated postpneumonia empyema.
BACKGROUND: There are approximately 60,000 new cases of postpneumonic empyema every day in the United States. Usually the fibrinopurulent stage of this complication has been treated by either tube thoracostomy or thoracotomy and debridement. According to the literature, thoracoscopic treatment has not been used often for this disease. METHODS: Sixty-four cases of postpneumonic fibrinopurulent empyema were operated on at our institution: 33 cases (group I) by means of a formal thoracotomy and 31 cases (group II) by thoracoscopy. In the thoracoscopic subset the data were collected prospectively since 1992. These results were compared with those of a historical series treated by thoracotomy between 1985 and 1991. Both populations were similar in terms of age (mean, 49 years), number of cases (33/31), sex (2.1 male/female), and comorbid status. RESULTS: Mean preoperative length of the medical management (11.5 versus 17 days) (p = 0.03) and chest tube removal (4.3 versus 6.1 days) were shorter in group II than in group I (p = 0.02). Morbidity and mortality were identical: one death and five complications in each group. Mean operative time was similar in both groups, and hospital stay was shorter in the video-assisted thoracic surgery group (6.8 versus 11.2 days) (p = not significant). Three patients from group II needed utilitary thoracotomies for debridement completeness (10% conversion rate). CONCLUSIONS: We conclude that video-assisted thoracic surgical treatment has the same rate of success as open thoracotomy but offers substantial advantages over thoracotomy in terms of resolution of the disease, hospital stay, and cosmesis. A prospective and randomized study is needed to confirm the findings of this nonrandomized initial experience.
Adolescent↗
Different practices observed in rural Australia.
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Analgesics, Opioid↗