Spontaneous rupture of a macroaneurysm documented in real time during fluorescein angiography.
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Aged↗
Biomedical subjects
S J Rose
Publications and source records attributed to S J Rose.
Identification of intervals on chromosomes 1, 3, and 13 linked to the development of lupus in BXSB mice.
OBJECTIVE: To identify intervals containing systemic lupus erythematosus (SLE) susceptibility alleles in the BXSB strain of mice. METHODS: We analyzed 286 (B10 x [B10 x BXSB]F1) backcross mice for a range of phenotypic traits associated with the development of SLE in BXSB mice. The mice were genotyped using 93 microsatellite markers, and the linkage of these markers to disease was studied by extreme-phenotype and quantitative trait locus analysis. RESULTS: The disease phenotype in these backcross mice was less severe than that in BXSB mice. However, antinuclear antibody production was increased compared with the parental strain. We identified 4 areas of genetic linkage to disease on chromosome 1 (Bxs1-4), 1 on chromosome 3 (Bxs5), and another interval on chromosome 13 which were associated with various aspects of the phenotype. Bxs4 and Bxs5 are located in regions not previously linked to disease in other models of SLE. CONCLUSION: SLE in the BXSB mouse model has a complex genetic basis and involves at least 5 distinct intervals located on chromosomes 1 and 3. There is evidence that different intervals affect particular aspects of the SLE phenotype.
Alleles↗
Growth response to rhIGF-I 80 microg/kg twice daily in children with growth hormone insensitivity syndrome: relationship to severity of clinical phenotype.
BACKGROUND: rhIGF-I has been used effectively to promote growth in growth hormone insensitivity syndrome (GHIS) in doses ranging from 40 microg/kg twice daily to 150-200 microg/kg once daily. It appears that the dose of 80 microg/kg twice daily s.c. may induce an equivalent response to higher doses with less side-effects. OBJECTIVE: To study the efficacy and safety of rhIGF-I, 80 microg/kg twice daily s.c., in children with GHIS and to analyse the relationship of growth response to severity of phenotype. PATIENTS AND DESIGN: Eleven prepubertal children (3 females, 8 males) with GHIS; basal GH > 2.5 microg/l, IGF-I < 50 microg/l, IGFBP-3 < - 2SD; were treated with IGF-I 80 microg/kg twice daily in a multi-centre study. The baseline characteristics of these patients were as follows (mean +/- SD): age, 7.5 +/- 2.5 years (range, 2.5-11.7 years), bone age (Tanner-Whitehouse - 2 RUS), 5.2 +/- 2.4 years (range, 2.3-9.1 years), mean height SDS, - 5.6 +/- 1.6 (range, - 3.1 to - 8.1), height velocity (HV), 3.1 +/- 1.1 cm/year (range, 1.9-4.9 cm/year). Height, HV, weight, skinfold thickness, puberty stage and bone age were measured at baseline and 6 monthly for 2 years. RESULTS: During the first 12 months of IGF-I therapy, the mean +/- SD HV was 7.7 +/- 1.6 cm/year (range, 6.1-11.2 cm/year), the mean +/- SD increase in HV was 4.7 +/- 2.1 cm/year (range, 1.7-8.8 cm/year) and the mean +/- SD progression of bone age was 1.9 +/- 1.0 years (range, 0.8-3.8 years). Pre-treatment height SDS at the start of IGF-I therapy correlated positively with pretreatment serum IGFBP-3 SDS levels (r = 0.85; P < 0.01). There was a significant inverse correlation between gain in height SDS and pre-treatment height SDS (r = - 0.76; P < 0.01). During the 2nd 12 months of therapy, mean HV was 7.0 +/- 3.4 cm/year (range 3.8-12.4) change in height SDS from 12 to 24 months was not significantly correlated with pre-treatment height SDS. Subscapular skinfold SDS decreased significantly (P < 0.05) during the study period, whereas there was no significant change in body mass index and triceps skinfold thickness SDS. Adverse events reported in the patient group included headache (2 patients), hypoglycaemia (2 patients), papilloedema (transient, 1 patient), lipohypertrophy (5 patients) and tonsillectomy/adenoidectomy (2 patients). CONCLUSION: This study reveals that IGF-I treatment at a dose of 80 microg/kg twice daily is effective in patients with growth hormone insensitivity syndrome. During the first 12 months of therapy, there was a significant inverse relationship between growth response to IGF-I therapy and the severity of the phenotype of growth hormone insensitivity syndrome, as measured by height SDS, at the start of therapy. Patients with a more severe clinical phenotype of growth hormone insensitivity syndrome, who also had most severe IGFBP-3 deficiency, responded better than those who were more mildly affected. An analogous situation has been shown to be the case in GH-deficient patients treated with hGH.
Body Height↗
Regulation of transcription of the TATA-less human complement component C4 gene.
The 5'-sequences flanking the human complement component C4 genes (C4A and C4B) have been analyzed for their ability to direct expression of a reporter gene in cell lines that constitutively express or do not express C4. No difference in the level of reporter gene expression was detected in cells transfected with C4A- or C4B-specific constructs. A series of reporter constructs containing progressively truncated C4 promoter fragments transfected into the hepatocyte Hep G2 cell line, identified the sequence contained within the region -178 to -39 as that associated with maximal reporter gene expression. This region contains consensus binding motifs for nuclear factor 1 (-110 to -97), Sp1 (-57 to -49), and three basic helix-loop-helix (-137 to -132, -98 to -93, and -78 to -73)-like transcription factors. Electromobility shift assays and DNase I footprinting analysis showed specific DNA-protein interactions of the C4 promoter at the nuclear factor 1, two E box (-98 to -93 and -78 to -73), and Sp1 binding domains. Site-directed mutagenesis of the Sp1 binding site resulted in total abrogation of reporter gene expression and mutation of the E box (-78 to -73) resulted in a 8-fold reduction in expression. We conclude that the Sp1 binding site at position -57 to -49 is critical for accurately initiated, basal transcription of C4.
Base Sequence↗
Erythrocyte CDP-choline accumulation in haemolytic anaemia and renal failure (RF).
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5'-Nucleotidase↗
Effects of dietary taurine on auditory function in full-term infants.
Three groups of neonates fed taurine supplemented infant formula, non-supplemented infant formula or breast milk, respectively, were studied from birth to 12 weeks of age. In addition to the measurement of whole blood taurine content, auditory function was monitored using auditory brainstem responses (ABRs) and transient evoked otoacoustic emissions (TEOAEs). The results showed a significant reduction in whole blood taurine concentration in the non-supplemented formula group. In addition, there was a significant drop in whole blood taurine levels in all 3 groups over the first four weeks of life. ABR wave latencies were significantly shorter in the non-supplemented group, with wave V showing the greatest reductions. Falling taurine levels after full-term birth may aid synaptic maturation/efficiency within the auditory system. TEOAE responses were significantly larger over the low to mid frequencies in the breast fed group suggesting improved middle ear function.
Audiometry, Pure-Tone↗
Elevated gamma-aminobutyric acid, glutamate, and vascular endothelial growth factor levels in the vitreous of patients with proliferative diabetic retinopathy.
OBJECTIVE: To examine the relative levels of gamma-aminobutyric acid (GABA), glutamate, and vascular endothelial growth factor (VEGF) in the vitreous of nondiabetic and diabetic patients. METHODS: Undiluted vitreous samples were obtained from 22 patients with proliferative diabetic retinopathy (PDR) and 28 patients without diabetes who underwent pars plana vitrectomy. Simultaneous venous blood samples also were obtained. Amino acid concentrations were determined using sensitive high-performance liquid chromatography, and VEGF levels by quantitative enzyme-linked immunosorbent assay. Hemoglobin concentrations in the blood and vitreous were determined using spectrophotometry. RESULTS: The level of GABA in the vitreous of patients with PDR, 29.4 +/- 7.8 mumol/L, was significantly higher than in controls (18.4 +/- 5.5 mumol/L) (P = .004). The vitreous concentration of glutamate was higher in patients with PDR (24.7 +/- 14.0 mumol/L) compared with controls (9.1 +/- 5.1 mumol/L) (P < .001). Vitreous VEGF level was significantly higher in patients with PDR (1759 +/- 1721 pg/mL) compared with controls (27 +/- 65 pg/mL) (P < .001). There were moderately strong correlations between GABA and VEGF levels (r = 0.68) and glutamate and VEGF levels (r = 0.43). Elevated GABA, glutamate, and VEGF levels also correlated strongly with the presence of PDR. Correcting for possible introduction of these molecules by vitreous hemorrhage did not significantly alter these findings. CONCLUSIONS: Levels of glutamate potentially toxic to retinal ganglion cells are found in the vitreous of patients with PDR. Elevated vitreous GABA may reflect amacrine cell dysfunction and underlie electroretinographic oscillatory potential abnormalities seen in diabetic retinopathy. The correlations of glutamate and GABA levels with an elevated VEGF level provide biochemical support for ischemia-induced neovascularization in patients with PDR. These findings present opportunities for novel therapeutic modalities in the treatment of PDR.
Chromatography, High Pressure Liquid↗
Evidence for early supply independent mitochondrial dysfunction in patients developing multiple organ failure after trauma.
OBJECTIVE: To determine whether early supply independent mitochondrial oxidative dysfunction occurs in trauma patients who develop multiple organ failure (MOF). DESIGN: Prospective focused observational trial. METHODS: High-risk patients were aggressively resuscitated while being continuously monitored by near infrared spectroscopy. Near infrared spectroscopy monitoring strips allow for a direct comparison of changes in tissue oxyhemoglobin levels (HbO2), which reflect local oxygen supply, and cytochrome a,a3 redox, which reflects mitochondrial oxygen consumption. Under normal conditions, HbO2 and a,a3 redox are tightly coupled. On the other hand, decoupled HbO2 and a,a3 redox is a sign of mitochondrial oxidative dysfunction. Outcomes included MOF, oxygen delivery, oxygen consumption, lactate, and the presence of decoupled HbO2 and a,a3 redox. RESULTS: Twenty-four high-risk patients were studied; nine (38%) developed MOF. At 12 hours of resuscitation, MOF and non-MOF patients did not have statistically different oxygen delivery and oxygen consumption, but lactate levels were significantly higher in MOF patients. Additionally, HBO2 and a,a3 redox were decoupled in eight (89%) MOF patients compared with two (13%) non-MOF patients (p < 0.05). CONCLUSION: Severely injured trauma patients who develop MOF preferentially display evidence of mitochondrial oxidative dysfunction early in the course of their resuscitation despite early goal-oriented maximization of oxygen delivery.
Adolescent↗
Early onset of diabetic nephropathy.
A 12 year old Asian girl with a four year history of poorly controlled insulin dependent diabetes mellitus developed overt diabetic nephropathy. There were no clinical features of Rabson-Mendenhall syndrome. Screening for microalbuminuria would have identified incipient diabetic nephropathy and highlighted the importance of good glycaemic control. Although screening for microalbuminuria is recommended after five years from diagnosis, it may be appropriate to undertake this annually in those with poor glycaemic control.
Albuminuria↗
The influence of different taurine diets on hearing development in normal babies. A preliminary report.
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Acoustic Stimulation↗
Managing mental health: whose responsibility?
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Cost Control↗
Nocturnal enuresis: a placebo controlled trial of two antidepressant drugs.
A multicentre, randomised, double blind treatment trial was set up comparing imipramine (a tricyclic antidepressant with anticholinergic action), mianserin (a quadricyclic antidepressant without anticholinergic activity), and placebo, (a) possibly to identify an effective alternative drug and (b) to elucidate the action of imipramine in enuretic children. Eighty children (65 boys, 15 girls) aged 5-13 years, wet three or more nights a week, were studied. Exclusions were a urinary tract infection or abnormality, other organic illness, or severe emotional disorders. After a four week assessment, 25 children were randomised to eight weeks' treatment with imipramine 25 mg, 26 to mianserin 10 mg and 29 to placebo, followed by four weeks without treatment. Dry nights and a wetness score were recorded throughout. During treatment, imipramine was superior to both placebo and mianserin (p < 0.001) in achieving dry nights and reducing wetness scores. It led to a definite improvement in 72% of children. Mianserin produced a mildly beneficial effect that was not superior to placebo. No side effects were recorded. Mianserin would not be a satisfactory alternative treatment for nocturnal enuresis. The efficacy of imipramine is unlikely to be the result of its antidepressant activity.
Adolescent↗
Secrecy in the NHS. Creeping censorship occurs.
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Employee Discipline↗
Isokinetic trunk testing and employment.
Isokinetic trunk testing is often performed to evaluate ability to perform job tasks. The purpose of this study was to evaluate the effectiveness of isokinetic trunk testing in identifying people with limited functional lifting capability and likely future injury potential. Two hundred thirty work applicants for heavy labor in a steel mill underwent job-related lifting ability and isokinetic trunk evaluation. There was no difference between the isokinetic scores of women who did not meet the job lifting criteria and those who did meet the lifting criteria. There was no difference between the isokinetic scores of workers who experienced occupational low back injury and those workers who did not over almost a 6-year follow-up period. In this study isokinetic trunk evaluation was of no value in employee selection.
Adolescent↗
An electromyographic analysis of two techniques for squat lifting and lowering.
The purpose of this study was to examine the effects of two different alignments of the pelvis and three different loads on electromyographic (EMG) activity of the erector spinae and oblique abdominal muscles during squat lifting and lowering. Each of 15 healthy subjects lifted and lowered loads with the pelvis aligned both in an anterior tilt and in a posterior tilt. Based on total duration, both the lift and the lower were divided into two equal phases. The EMG activity of each muscle was quantified for each half of both the lift and the lower and was normalized to the total EMG produced by the muscle during a maximal voluntary isometric contraction. The results indicate (1) that the EMG activity of the erector spinae muscles was greater when subjects maintained an anterior tilt than when they maintained a posterior tilt; (2) that the EMG activity of the oblique abdominal muscles was greater in the first half of the lift than in the second half for both lifting styles, although the opposite was true for both lowering styles; and (3) that the EMG activity increased with increasing loads. The results suggest that the greater trunk muscle activity occurring with the anterior tilt position may ensure optimal muscular support for the spine while handling loads, thereby reducing the risk for low back injury.
Adult↗
Carnitine deficiency associated with long-term pivampicillin treatment: the effect of a replacement therapy regime.
A 51 year old female developed a skeletal muscle myopathy after 3 months of pivampicillin therapy. Pivampicillin can cause carnitine deficiency due to the pivalic acid side group. Plasma carnitine content and the patients symptoms failed to improve significantly on discontinuing the drug. Oral carnitine replacement therapy was administered for 6 weeks but the patient's plasma carnitine levels responded only slowly to this treatment. It is suggested that pivampicillin inhibits uptake of carnitine from the gut and may either directly or indirectly depress endogenous carnitine synthesis. In such cases a more aggressive carnitine replacement regime is indicated and pivampicillin should be avoided in patients requiring long-term antibiotic administration.
Carnitine↗
A novel DNA joining activity catalyzed by T4 DNA ligase.
The use of T4 and E. coli DNA ligases in genetic engineering technology is usually associated with nick-closing activity in double stranded DNA or ligation of 'sticky-ends' to produce recombinant DNA molecules. We describe in this communication the ability of T4 DNA ligase to catalyze intramolecular loop formation between annealed oligodeoxyribonucleotides wherein Watson-Crick base pairing is absent on one side of the ligation site. Enzyme concentration, loop size, substrate specificity, and base composition were explored in an effort to maximize yield. Amounts of T4 DNA ligase in large molar excess to DNA template and ligated product are necessary to achieve high yields.
Autoradiography↗
Argon laser photoablation of a choroidal osteoma.
Choroidal osteomas are rare, juxtapapillary choroidal tumors, which are usually unilateral but can be bilateral in as many as 30% of patients. Choroidal neovascularization may complicate this condition and be associated with severe visual loss. A patient treated with argon laser photocoagulation for SRNVM is described, and clinical and radiographic evidence of destruction of the osteoma during an 8-year follow-up is presented. The possible mechanisms of laser's ablative effect on bone, in addition to clinical application for choroidal osteoma treatment, are discussed.
Adult↗