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R Buckley

Publications and source records attributed to R Buckley.

At least 37 records · Page 2Linked to original sources

Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.

PKU is one of the commonest genetic disease in man, affecting 1/10,000 individuals. It presents a wide phenotypical spectrum, from classic PKU to moderate Hyperpheylalaninemia depending on the residual enzymatic activity. Two novel mutations 1163/1164delTG and P362T in exon 11 have been detected during the mutational screening of the PAH gene in 84 families. 1163/1164delTC can be confused with V388M if the mutational screening is performed with BsaAI restriction enzyme, this mutation in heterozigosis presents a moderate phenotype. P362T mutation in heterozigosis with V388M shows a classical PKU phenotype. We report here two new mutations in exon 11 of the PAH gene (GenBank U49897), V1163delTG and P362T (using cDNA sequence), detected during the analysis of 57 PKU and 36 HPA patients belonging to 84 unrelated families detected under a neonatal screening program performed in Catalonia.

DNA Mutational Analysis↗

Diagnosis and treatment of prostatitis in Canada.

OBJECTIVES: There is a general consensus among physicians that the present management of chronic prostatitis is dismal. We undertook a survey of Canadian primary care physicians (PCPs) and urologists to determine the degree and source of frustration and to analyze present practice patterns in this disease. METHODS: Five thousand PCPs and all 545 Canadian urologists were asked to complete a comprehensive computer-assisted telephone survey that explored practice characteristics, attitudes, and diagnostic and treatment strategies in the management of prostatitis. Randomization of attribute banks, adherence to questionnaire routing, validation by on-site monitoring, and possible bias were addressed. RESULTS: Completed interviews were obtained from 10% of PCPs and 28% of urologists. PCPs see on average 3.5 (median 2) patients with prostatitis per month and urologists see on average 21.8 (median 11) patients with prostatitis per month. All physicians experience significantly more frustration in treating prostatitis than they do in treating patients with benign prostatic hyperplasia (BPH) and prostate cancer, and they perceive that prostatitis affects patients' quality of life significantly more than BPH and almost as much as prostate cancer. The degree of frustration and unhappiness in dealing with prostatitis is driven by a lack of confidence and comfort in their ability to accurately diagnose and subsequently rationalize treatment. Most PCPs and urologists continue to employ steps in addition to history and physical examination to establish a diagnosis but only a few PCPs and a third of urologists use specific lower urinary tract cultures. Physicians tend to use trimethoprim or trimethoprim-sulfamethoxazole (TMP-SMX) or a fluoroquinolone as their usual first line therapy for chronic prostatitis. The most commonly used therapeutic strategy (40%) for chronic prostatitis was TMP-SMX as first line therapy and a fluoroquinolone as second line therapy. CONCLUSIONS: There is widespread frustration, discomfort, and lack of confidence in both PCPs' and urologists' perceived ability to manage prostatitis. Physicians have expressed a desire for a better understanding of this disease, simpler and clearer diagnostic guidelines, and more rational treatment strategies.

Canada↗

Oral analogue scale as an outcome measure after displaced intra-articular calcaneal fractures.

Functional outcome measures of displaced intra-articular calcaneal fractures have been documented using general health surveys (SF36) and disease-specific health surveys (Visual Analogue Scale). A simple oral analogue scale (OAS) was collected on 115 patients with 124 displaced intra-articular calcaneal fractures at 2 years or more after fractures. There was a high correlation (r = 0.72, P < 0.0001) between the verbal OAS and the written Visual Analogue Scale. We believe that the OAS may assist in follow-up outcome assessment and management in this difficult trauma patient population. Outcomes may be accomplished verbally rather than in written form.

Calcaneus↗

A comparison of one versus two distal locking screws in tibial fractures treated with unreamed tibial nails: a prospective randomized clinical trial.

The objective was to determine whether the number of interlocking screws have an impact on hardware failure. In a clinical prospective randomized study of skeletally mature patients with diaphyseal tibial fractures, 44 were randomized pre-operatively into the two treatment arms over a two-year period. Two patients, one from each group, were excluded later. Of eligible patients, 22 had one distal locking screw and 20 had two distal locking screws. One distal screw failed (59.1 per cent) significantly more often than two distal screws (5 per cent). Screw failure occurred more often in heavier patients and usually between six and 12 weeks. Proximal screw failure was seen in 17 per cent of patients. There was no significant difference between groups with respect to fracture union.

Adolescent↗

An accident and emergency nurse in the besieged city of Sarajevo.

As war raged in Bosnia a team of doctors and nurses travelled into the besieged city of Sarajevo to treat some of the people injured by the war. More than half of the city's doctors had been killed or had escaped the city. This is the experience of one of the members of the team, an Accident and Emergency nurse.

Emergency Nursing↗

The role of the therapeutic contact lens in the management of recurrent corneal erosions: a review of treatment strategies.

PURPOSE: Recurrent corneal erosion is a commonly encountered condition for which multiple treatment modalities are suggested. We discuss the role of the therapeutic contact lens in the management of this condition. METHODS: We reviewed treatment strategies based on published literature and on personal experience. RESULTS: Ocular lubricants are the standard treatment for recurrent corneal erosion. Where loose flaps of epithelium are present, they should be removed before prescribing lubricants. In some dystrophic cases, reduplicated basement membrane can be scraped off before lubricant treatment is resumed. Where conservatives measures fail, three treatment modalities may be employed: application of a therapeutic contact lens; anterior stromal puncture; and excimer laser phototherapeutic keratectomy (PTK). The choice of treatment is determined by: etiology; location of disease (axial or off-axis); coexisting ocular diseases; individual patient reliability; and availability of equipment. The therapeutic contact lens has a role in the management of difficult post-traumatic cases where the lesion is axial. The use of such a lens in dystrophic cases is often not very effective, and these cases may be most effectively treated with PTK. If a contact lens is used, the lens should be fit fairly tight and both physician and patient should be aware of the risk of microbial keratitis. CONCLUSIONS: The guidelines in this paper should enable physicians to maximize success and minimize risks when managing patients with recurrent corneal erosions.

Contact Lenses↗

The visual prognosis following HLA-matched keratoplasty for high-risk patients.

We report the clinical details of 30 HLA-matched corneal grafts with a mean follow-up of 29 months. Few of the patients were immunologically naive as almost all had received previous unmatched grafts. The two-year survival rate was 77%, comparable with other series. A majority of patients obtained good vision, and this was statistically superior to a recent large series. Almost all remained on their topical medication indefinitely. The contralateral visual acuity was surprisingly good, but there are few published data for comparison. We were unable to document an enhanced prognosis with a higher degree of HLA-A, B or DR match, possibly because of the small numbers.

Adult↗

Excimer laser superficial keratectomy for proud nebulae in keratoconus.

Contact lens intolerance in keratoconus may be due to the formation of a proud nebula at or near the apex of the cone. Excimer laser superficial keratectomy was performed as an outpatients with proud nebulae as treatment patients with proud nebulae as treatment for their contact lens intolerance. The mean period of contact lens wear before the development of intolerance was 13.4 years (range 2 to 27 years). Following the development of intolerance, three patients abandoned contact lens wear in the affected eye while the remainder experienced a reduction in comfortable wearing time (mean = 3.75 hours; range: 0-14 hours). All patients had good potential Snellen visual acuity with a contact lens of 6/9 (nine eyes) and 6/12 (one eye). The proud nebulae were directly ablated with a 193 nm ArF excimer laser using a 1 mm diameter beam. Between 100-150 pulses were sufficient to ablate the raised area. Patients experienced no pain during the procedure and reported minimal discomfort postoperatively. In all cases flattening of the proud nebulae was achieved. Seven patients were able to resume regular contact lens wear (mean wearing time = 10.17 hours; range 8 to 16 hours). In three patients, resumption of contact lens wear was unsuccessful because of cone steepness. All patients achieved postoperative Snellen visual acuity of 6/12 or better with a contact lens. Four patients experienced a loss of one line in Snellen acuity. The mean follow up period was 8.3 months (range 2 to 17 months). Excimer laser superficial keratectomy is a useful technique for the treatment of contact lens intolerance caused by proud nebulae in patients with keratoconus. Penetrating keratoplasty is thus avoided.

Contact Lenses↗

Risk factors for hepatitis C virus infection among injecting drug users in Sydney.

OBJECTIVE: To study risk factors for hepatitis C virus (HCV) infection in injecting drug users (IDUs) from central Sydney. SETTING AND SUBJECTS: All IDUs attending a primary health care facility in central Sydney between December 1991 and November 1992 who underwent HCV antibody testing. METHODS: Information was obtained retrospectively from client forms routinely completed at the time of medical consultation. Additional information on injecting history and practice was obtained from the registration forms of subjects who also attended the needle syringe exchange programme at the same health care facility. RESULTS: Of the 201 IDUs tested, 118 (59%) had HCV antibodies, which did not differ significantly between males and females. HCV prevalence increased significantly with age, being highest in IDUs who were aged 35 years or more (93%) and lowest in IDUs aged under 20 years (17%). HCV prevalence increased significantly with time since first injecting, from 26% for IDUs who had injected for less than 3 years to 94% for those who had injected for more than 10 years. HCV prevalence was also significantly higher in heterosexual IDUs as compared with homosexual male IDUs, and in opiate users as compared with stimulant users, even after adjustment for age and duration of injecting. HCV prevalence was strongly associated with exposure to hepatitis B virus, but was not associated with exposure to HIV. CONCLUSION: Recent HCV transmission indicates ongoing injecting risk behaviour despite HIV prevention efforts, and underlies the potential for increased transmission of HIV through the sharing of injecting equipment. Within the population of IDUs, those who are heterosexual or inject heroin appear to be at increased risk of HCV infection.

Adolescent↗

Symptomatic bradycardia following the administration of sublingual nitroglycerin.

A case of severe bradycardia with junctional escape immediately following sublingual nitroglycerin is described. Bradycardia is a rare, but well-documented, complication of nitroglycerin and is often reported in the setting of myocardial ischemia or infarction. This particular case reported was complicated by the presence of an angiographically documented congenital coronary anomaly, but did not have either electrocardiographic or enzymatic evidence of ischemia or infarction during this event. Previously reported cases were reviewed, as well as potential mechanisms for this phenomenon. All cases reported to date were easily corrected with passive leg elevation or atropine.

Administration, Sublingual↗

Limbal transplantation in the management of chronic contact-lens-associated epitheliopathy.

We describe the clinical management of 6 patients who developed a chronic corneal epitheliopathy 1-18 years after commencing soft contact lens wear. All had a history of exposure to thiomersal in contact lens fluids. The corneal changes were characterised by epithelial haze and superficial stromal vascularisation which extended from the limbus towards the visual axis. Five patients were observed for a minimum of 18 months after stopping contact lens wear before undergoing limbal transplantation. A good result was obtained in 1 patient who had worn a contact lens in one eye only. Recurrent epithelial changes were observed on the recipient eyes of the remaining patients who had previously worn contact lenses bilaterally, and in 1 patient epithelial haze also developed adjacent to the donor site in the previously clinically normal donor eye. All 5 patients experienced an improvement in symptoms post-operatively but in 2 patients the visual acuity later deteriorated because of epithelial irregularity. The sixth patient has not had surgery. We conclude that limbal stem cell dysfunction in chronic contact-lens-associated epitheliopathy may be subclinical and that autograft transplantation in bilaterally exposed patients may fail to restore the epithelial phenotype of the host eye whilst jeopardising the epithelial integrity of the donor eye by depleting its stem cell reserve.

Adolescent↗

The Greater Vancouver Mental Health Service Society: 20 years' experience in urban community mental health.

Caring for people in the community with persistent and disabling mental illnesses presents a major challenge to government, planners and mental health professionals. The success with which mentally disabled people are integrated into community life says much about the society in which we live. This article describes the experience of the Greater Vancouver Mental Health Service Society in offering community-based mental health services to persons with schizophrenia and other major mental disorders over the past 20 years. The key to its success lies in a decentralized, relatively non hierarchical organizational structure which allows committed and skilled multidisciplinary teams to work with patients and their families in their community. The resulting services are fully integrated within the fabric of the community and are responsive to local needs. Partnerships among professionals, patients, families and community agencies result in work that is creative, productive and effective.

Adult↗

The multi-service network: reaching the unserved multi-problem individual.

A small number of multi-problem, service-resistant individuals in every metropolitan community consume extraordinary amounts of human service at great cost to publicly-funded agencies with less than satisfactory benefit to the individual. This paper describes an innovative collaboration among mental health, alcohol/drug treatment, corrections, forensic, and social and housing agencies to provide more effective services at less cost. The theory of action was that (1) inter-agency communication and (2) external controls developed by core service agencies increase the efficacy of treatment and reduce the cost of caring for multi-problem clients. Agencies refer clients to the Multi-Service Network who are then screened for problematic multi-agency involvement. Case conferences result in individual service plans. Three illustrative cases are described and the results of two evaluative studies summarized. Cost of care for clients appears to have been reduced. Agencies appear to have benefited from improved information and communication. Clients' behavior was stabilized by external controls and more adequate attention to their needs.

Activities of Daily Living↗

Perioperative cefazolin prophylaxis in hip fracture surgery.

Antibiotics given perioperatively are thought to decrease the occurrence of postoperative wound infection. The duration of treatment for hip fracture surgery is empirical. This randomized, double-blind, single-hospital clinical study was carried out to assess the effect of both antibiotic use and duration of use on wound infections in hip fracture surgery. Wound infection rates in three groups of patients were compared: those who received four doses of cefazolin (108 patients), those who received one dose of cefazolin and three doses of placebo (83 patients) and those who received four placebo doses (121 patients). Results showed an infection rate of 1.6% for the four-dose group, 2.4% for the one-dose group and 3.7% for the placebo group. These differences were not statistically significant, even when both treatment groups were combined and compared with the placebo group. The authors conclude that until more patients are added, empirical use of antibiotics should be continued in patients who undergo hip fracture surgery.

Adult↗

Seronegative arthritis associated with serological evidence of Yersinia infection in Australia.

Infection due to yersinia enterocolitica is a common antecedent illness in patients with reactive arthritis in Scandinavia, but appears to be less frequent in other countries. In order to examine the frequency of yersinia infection in patients with seronegative arthritis in Australia we examined 22 patients, 15 with ankylosing spondylitis (AS) and seven with Reiter's syndrome (RS). A sensitive ELISA assay was used to detect serum antibodies to the most common serotypes. Six patients (29%) had positive yersinia serology, all were HLA B27 and four had a history of diarrhea preceding the onset of their disease. Four patients with positive yersinia serology had AS and two had RS. Antibodies were directed against Y. enterocolitica biotype 0:3 in three cases, Y. enterocolitica 0:9 in two cases and Y. enterocolitica 0:8 in one subject. Twenty-nine control subjects (13 HLA B27) had no serum antibodies to yersinia. The results of this study indicate that preceding yersinia infection occurs in a significant (p less than 0.05; compared to controls) proportion of patients with HLA B27 related seronegative arthropathies.

Adult↗

Association of complement allotype C4B2 with anterior uveitis.

We have studied allotypes of the fourth component of complement (C4) in 44 patients with inflammatory eye disease in order to define genetic susceptibility factors further. Twenty-six patients had uveitis (18 had anterior uveitis) and 18 patients had retinal vasculitis. There was an increased incidence of the C4B2 allotype in patients with anterior uveitis (pc less than 0.002), especially in HLA B27 positive males. In contrast, there was no increased incidence of specific allotypes in patients with posterior uveitis or retinal vasculitis. This genetic association may form part of a disease susceptibility supratype in patients with anterior uveitis.

Alleles↗