Search PubMed⌕ Search

Biomedical subjects

J Harper

Publications and source records attributed to J Harper.

At least 73 records · Page 4Linked to original sources
PubMed1998

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.

We report on the occurrence of coronal craniosynostosis, anal anomalies, and porokeratosis in two male sibs. A third male sib was phenotypically normal as were the parents. The occurrence of these three clinical features has, to our knowledge, not been reported before. Cutaneous or anal anomalies or both have been reported in a number of syndromes associated with craniosynostosis, including Crouzon, Pfeiffer, Apert, and Beare-Stevenson syndromes. These syndromes are associated with mutations in the fibroblast growth factor receptor genes FGFR1, FGFR2, and FGFR3. They are inherited in an autosomal dominant fashion. In contrast, the cases we report do not carry any of the common FGFR mutations and the pedigree suggests autosomal or X linked recessive inheritance.

Abnormalities, Multiple↗
PubMed1998

The causes of variations in unit labour costs: a preliminary study.

This paper reports a study of eight National Health Service Trusts, using data drawn from the Unit Labour Costs database and supplementary data collected for the purposes of the study, which set out to begin to explain the large variations in unit labour cost that exist. On the basis of extensive discussions within and between units, it was found that major causes of variations in productivity related to length of stay and bed utilization, which were in turn a result of variations in case mix. Staff utilization was a further major factor. Another observation was that the quality of data, particularly the integration of financial, activity and manpower data, was often poor.

Cost Allocation↗
PubMed1997

A sigmoidoscopy-based case-control study of polyps: macronutrients, fiber and meat consumption.

We conducted a large, sigmoidoscopy-based case-control study to examine the relation of intake of macronutrients, meat, and fiber to occurrence of adenomas of the large bowel. Cases were subjects diagnosed for the first time with one or more histologically confirmed adenomas. Controls had no polyps of any type at sigmoidoscopy, had no history of polyps, and were individually matched to cases by gender, age, date of sigmoidoscopy, and Kaiser Center. The response rate was 84% for cases and 82% for controls. Complete dietary data for 488 matched pairs were available. All odds ratios are from matched analyses adjusted for energy. We observed positive associations with risk of adenomas for calories, animal fat, saturated fat, red meat, and the ratio of red meat to poultry and fish. Protective effects were observed for vegetable protein, carbohydrates, and dietary fiber. The fiber effects diminished after adjusting for fruits and vegetables. Results after mutually adjusting for the effects of saturated fat, fiber and the ratio of red meat to chicken and fish suggest that each of these variables has an effect on risk of adenomas that is independent of the other 2 exposures.

Aged↗
PubMed1997

The effect of anaesthesia on the intraocular volume of the C3F8 gas bubble.

Long-acting intraocular gas bubbles are frequently used during vitrectomy to tamponade retinal breaks. The aim of this study was to determine the effect of nitrous oxide anaesthesia on the size and effectiveness of the post-vitrectomy gas bubble. Twenty vitrectomy procedures with injection of 12% perfluoropropane (C3F8) gas were performed. For 10 of the cases routine anaesthesia with nitrous oxide was used and for 10 cases non-nitrous anaesthesia with propofol was used. The volume of the intraocular gas bubble was estimated 24 hours post-operatively using A-scan biometry. At 24 hours the gas bubble occupied a mean of 65.1% of the eye in anaesthesia with nitrous oxide and a mean of 66.1% in anaesthesia with intravenous propofol. The wide range of values of gas-fill recorded at 24 hours makes comparison of the two groups inappropriate. Several factors may account for this spread of values, but in our opinion it is the uncontrolled leakage from the sclerostomies which is the most likely. This study suggests that anaesthesia using nitrous oxide does not adversely affect the size of the C3F8 gas bubble at 24 hours post-vitrectomy when compared with anaesthesia without nitrous oxide.

Adult↗
PubMed1997

Analysis of a commercially improved Penicillium chrysogenum strain series: involvement of recombinogenic regions in amplification and deletion of the penicillin biosynthesis gene cluster.

Several commercially improved strains of Penicillium chrysogenum have been shown to carry amplifications of the entire penicillin biosynthesis gene cluster. Analysis previously carried out using the strain BW 1890 has here been extended to the characterisation of other members of the SmithKline Beecham strain improvement series. We have determined the length of the amplicon to be 57.4 kb and shown a general increase in copy number and penicillin titre through the series. Sequence analyses of the promoter regions of the acvA, ipnA and aat genes in the high titre strain BW 1901, and comparisons with wild-type sequences have not identified any potentially titre-enhancing mutations. In addition, cDNA screening has failed to identify any further transcribed elements within the co-amplified region. The homogeneity of hybridisation patterns and the identification and analysis of a single copy revertant has shown that the amplification is of a direct tandem nature and we propose a model of chromatid misalignment and recombination as its mode of generation. Hybridisation analysis of penicillin non-producing mutants has indicated the loss, in all those investigated, of the entire penicillin biosynthesis gene cluster, similarities between the deletion junctions in these strains and comparison with previously published data indicating the presence of recombinogenic regions flanking the penicillin biosynthesis gene cluster.

Chromosome Mapping↗
PubMed1997

Metyrapone pre-treated inferior petrosal sinus sampling in the differential diagnosis of ACTH-dependent Cushing's syndrome.

BACKGROUND: Inferior petrosal sinus sampling (IPSS) is a useful investigative technique in the differential diagnosis of ACTH-dependent Cushing's syndrome. Diagnostic accuracy is improved by the administration of corticotrophin releasing-factor (CRF) during the procedure to stimulate ACTH secretion. We hypothesized that, given the unavailability of CRF in Australia, stimulation of ACTH secretion from tumorous corticotrophs with metyrapone treatment before IPSS may be useful. AIMS: To describe our clinical experience with a novel diagnostic test, and to compare results between IPSS with and without metyrapone pre-treatment. SETTING: Metropolitan, Australian university teaching hospital. PATIENTS: 18 patients were studied on 21 occasions: three with Cushing's disease without metyrapone treatment prior to IPSS (M-), 11 with Cushing's disease with metyrapone pretreatment (M+), three with ectopic ACTH syndrome, and one with pseudo-Cushing's syndrome. TREATMENT: Patients received oral metyrapone, median dose 750 mg 6 hourly, for 24 h before IPSS. RESULTS: No major side effects were noted. Metyrapone increased serum 11-deoxycortisol concentration to a median of 400 nmol/l (range 36-1310) on the morning of the test. Radiological confirmation of correct catheter placement was shown in 36/42 inferior petrosal sinuses (86%). Median peak central: peripheral ACTH ratios were 9.8 for M- pituitary adenomas (range 5.7-13.6), 12.9 for the technically successful M+ pituitary adenomas (range 8-54.1), and 1.6 for M+ ectopic ACTH syndrome cases (range 1.2-3.4). Repeat studies in unoperated patients with ectopic ACTH syndrome showed ratios < 1.6. IPSS showed median peak ACTH concentrations of 190 ng/l for M- pituitary adenomas (range 83-205), 595 ng/l for the technically successful M+ pituitary adenomas (range 80-7630; P = 0.035 compared to M-), and 62 ng/l for M+ ectopic ACTH syndrome cases (range 47-220). IPSS correctly identified the pituitary source of ACTH production in all cases of Cushing's disease (except one technical failure where MRI revealed a lesion). MRI scanning correctly identified a lesion in 3/14 operated Cushing's disease cases. IPSS correctly lateralized 1/3 M- and 7/8 M+ Cushing's disease cases where the procedure was technically successful and surgical descriptions adequate. Pituitary exploration revealed a visible lesion in 75% of cases corresponding to the side predicted by IPSS; 'blind' hemi-hypophysectomy was performed on the side predicted from IPSS in the remainder. All cases of Cushing's disease were cured or improved following surgery, with a median follow-up of 2.8 years (range 0.7-5.9). CONCLUSIONS: Metyrapone pre-treated inferior petrosal sinus sampling is safe, and appears to induce high ACTH output from pituitary corticotroph adenomas. The technique has allowed accurate localization and treatment of pituitary corticotroph microadenomas.

ACTH Syndrome, Ectopic↗
PubMed1997

Impact of changes in catheter management on infectious complications among children with central venous catheters.

OBJECTIVES: To characterize and enumerate central venous catheter (CVC)-related complications among children with chronic illnesses, and to reduce the complication rate through changes in CVC management and education. DESIGN: A prospective observational study followed by an educational program and a nonrandomized interventional trial. SETTING: The Children's Hospital of Philadelphia, a tertiary, pediatric facility. PATIENTS: 268 children with Broviac, Hickman, or Infusaport catheters in place during 58,290 catheter days. INTERVENTIONS: Development and implementation of protocols for cleaning insertion site and hub, use of nonocclusive dressings, and manipulation of access; formal staff and parental education about protocols. RESULTS: CVC-related infections fell from 4.58/1,000 catheter-days preintervention to 3.83 postintervention (risk ratio [RR], 0.20; 95% confidence interval [CI95], 0.89-1.622; P = .25); exit-site infections fell from 0.58 to 0.11 (CI95, 1.22-45.64; P = .02); rates among infants on the surgical service fell from 15.46 to 6.67 (RR, 2.31; CI95, 1.10-4.30; P = .02). CONCLUSIONS: Education and changes in management protocols reduced the incidence of exit-site infections among all patients and reduced the overall infectious complication rate among the infants receiving parenteral nutrition on the surgical service. Other interventions are needed to decrease further the infectious complications in these children.

Catheterization, Central Venous↗
PubMed1996

Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508).

Preimplantation genetic diagnosis (PGD) was attempted in 12 couples in whom both parents carry the common delta F508 deletion causing cystic fibrosis (CF). In vitro fertilization (IVF) was followed by cleavage stage biopsy on days 2 and 3 and removal of one or two cells for genetic analysis by nested polymerase chain reaction (PCR) and heteroduplex formation. A total of 18 cycles resulted in 137 normally fertilized embryos, of which 115 developed to cleavage stages and 114 were successfully biopsied. Genetic analysis was successful in 83 embryos (73 per cent). With the remaining embryos, either results from two or more cells were discordant or amplification failed. In 15 cycles, one or two either normal or carrier embryos were transferred and five (33 per cent) clinical pregnancies were established. Five singletons have been born and at birth all five babies have been confirmed as homozygous for the normal allele. Our experience demonstrates that IVF and cleavage stage biopsy consistently provides sufficient embryos, diagnosed as unaffected, for transfer in this autosomal recessive disease and that pregnancy rates are comparable to those following IVF.

Adult↗
PubMed1996

Childhood-onset scleroderma: is it different from adult-onset disease.

OBJECTIVE: To distinguish childhood-onset scleroderma from adult-onset disease. METHODS: The clinical and serologic features of 58 patients with childhood-onset scleroderma (11 patients with diffuse cutaneous systemic sclerosis [SSc], 16 with linear SSc, 14 with linear morphea, and 17 with morphea) were examined in the largest cohort of such patients studied to date. These parameters were compared with data obtained from patients with adult-onset disease. RESULTS: Childhood-onset scleroderma resembled adult-onset disease with regard to the heterogeneity of clinical expression and subsets of disease, but it also differed from adult-onset disease in a number of clinical and laboratory parameters. The predominant childhood-onset disease presentation was the localized form of the disease, with limited and diffuse SSc being less notable. There was a significant association of trauma with childhood-onset scleroderma (P < 0.0001), which was not noted in adult-onset disease. Furthermore, in contrast to adult disease, patients with childhood-onset disease had normal levels of parameters of vascular activation (von Willebrand factor, angiotensin-converting enzyme, E-selectin, and endothelin-1), T cell activation (soluble interleukin-2 receptors), and collagen synthesis (carboxy-terminal type I and amino-terminal type III), a notable lack of anticentromere antibodies, and abnormal coagulation indices. CONCLUSION: A number of features distinguish childhood-onset scleroderma from adult-onset disease.

Adolescent↗
PubMed1996

Course of behavioral change in autism: a retrospective study of high-IQ adolescents and adults.

OBJECTIVE: The course of behavioral change in autistic behaviors has received little attention in previous research but is a potentially important parameter for study in autism. METHOD: Autistic behaviors were systematically examined in 38 high-IQ adolescent and adult autistic individuals at their current age (13 through 28 years) and retrospectively at age 5 years using a standardized interview for autism. RESULTS: Significant change over time in autistic behaviors, generally in the direction of improvement, was detected. The proportion of subjects showing improvement in communication and social behaviors was found to be significantly higher than the proportion showing improvement in ritualistic/repetitive behaviors. Five of 38 subjects who met DSM-IV criteria for autistic disorder at age 5 years no longer met criteria at their current age, although all five continued to have substantial impairment. CONCLUSIONS: The study of patterns of behavioral change over time in autism has practical implications for both diagnosis and prognosis as well as potential importance in defining biologically meaningful subgroups and clarifying fundamental mechanisms underlying this disorder.

Adolescent↗
PubMed1996

Nance-Sweeney chondrodysplasia--a further case?

A 52-year-old male with short stature due to short limbs, a cleft palate and subcutaneous calcification was described by Nance and Sweeney in 1970. His parents were consanguineous and two female sibs and two cousins were said to be similarly affected, thus the authors proposed that this was a previously undescribed recessively inherited chondrodystrophy. We describe a patient with short stature due to short limbs, subcutaneous calcification, and a cleft palate with features similar to those described by Nance and Sweeney.

Arm↗
PubMed1995

Lactose fed-batch overexpression of recombinant metalloproteins in Escherichia coli BL21 (DE3): process control yielding high levels of metal-incorporated, soluble protein.

A method for producing recombinant proteins in pilot scale fermentation equipment using a glucose fed-batch initial growth, followed by a midlog phase feeding of a glucose and lactose mixture is described. Using the host strain Escherichia coli BL21(DE3), the diiron protein stearoyl-acyl carrier protein delta 9 desaturase has been overexpressed at a biomass level of up to 12 g x liter-1 dry cell weight, representing a 12-fold increase in volumetric productivity relative to that obtained from batch fermentations. Under these conditions, a maximum of 36% of the total cellular protein accumulates as the desaturase polypeptide. A correlation between the slowed growth rate of the fed-batch culture, a continued, albeit slower, exponential growth under inducing conditions, and a favorable partitioning between formation of the soluble holoprotein and inclusion bodies is reported. This correlation suggests that fed-batch techniques can be used to beneficially influence rate-limiting processes in the maturation of overexpressed proteins, such as metal uptake and incorporation proposed here. By using cells produced from the fed-batch method, the iron-containing, soluble desaturase can be purified in a yield of up to 66 mg x g-1 dry cell weight (approximately 500 mg x liter-1 culture), representing a three to fivefold increase in the yield relative to that obtained from batch fermentations. In addition, these methods are suitable for the production of the Anabena 7120 vegetative [2Fe 2S] ferredoxin in E. coli BL21(DE3) pLysS, a host strain used for the overexpression of toxic proteins.

Cell Division↗
PubMed1995

The tunable dye laser--introducing new technology into the working environment.

As we are all aware, the pace of change in all aspects of specialised critical care is constant, and finding time to understand and incorporate new technological advances into our nursing practice is not easy. Theatre nursing is demanding enough with the increasing demand for theatre sessions, staff shortages and financial limitations, but the obvious benefits of medical advances for patients easily outweigh these as this article will hopefully illustrate. We are all willing to embrace positive change but do feel the need to incorporate it safely into our practice, a dilemma recognised by Evans.

Humans↗