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Biomedical subjects

C James

Publications and source records attributed to C James.

At least 91 records · Page 5Linked to original sources
PubMed1996

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.

The Bethlem myopathy, a childhood onset autosomal dominant myopathy with joint contractures, has recently been localized to 21q in a series of Dutch families and the alpha 1 and alpha 2 subunits of type VI collagen (COL6A1 and COL6A2) have been postulated as candidate genes. We investigate a large family of French Canadian descent (family 1489) in which the Bethlem myopathy is segregating. Family 1489 is unlinked to the region of interest on 21q, thus demonstrating locus heterogeneity within the Bethlem myopathy classification. In view of the localization of the genes coding the alpha 1 and alpha 2 subunits of type VI collagen on chromosome 21q, we carried out linkage analysis on chromosome 2q where the alpha 3 subunit of type VI collagen has been localized. We demonstrate linkage to markers in this region, define the region of disease gene localization, and confirm by FISH analysis that COL6A3 is located within the interval of interest making COL6A3 a feasible candidate gene for the Bethlem myopathy.

Chromosome Mapping↗
PubMed1996

A 3 1/2 year old girl with distal trisomy 19q defined by FISH.

A 3 1/2 year old girl was evaluated because of developmental delay. Short stature was evident with height between the 3rd and 10th centiles, while weight and head circumference were on the 50th centile. Dysmorphic features consisted of a high bossed forehead, pointed short ear lobes, small nose, bilateral convergent strabismus, left simian crease, a gap between the first and second toes bilaterally, mild clinodactyly, and a broad, barrel shaped thorax. Cytogenetic investigations showed an unbalanced karyotype, 46,XX,10q+, which was de novo in origin. Fluorescence in situ hybridisation (FISH) using three library probes (from chromosomes 10, 19, and 19q) and a YAC probe (from 10q telomere) showed that the additional material on 10q was derived from chromosome 19q. The patient had an unbalanced translocation, 46,XX,-10,+der(10)t(10;19)(q26.3; q13.3), which resulted in distal trisomy 19q. Few other cases of proven distal trisomy 19q are available for comparison of clinical features.

Child↗
PubMed1996

Lessons learned from 10 years of MSO development.

Lessons learned over 10 years of management services organization (MSO) development can help financial managers increase their healthcare organizations' odds of success in such ventures. If administered appropriately, with a focus on managing and retaining covered lives, MSOs can be valuable vehicles for tying community physicians to organizations interested in developing integrated delivery systems.

Capital Financing↗
PubMed1995

46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.

Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the Y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism.

Aneuploidy↗
PubMed1995

Loss of power during fatigue of human leg muscles.

1. We have investigated the loss of power seen during high-intensity exercise of human leg muscles such as might occur during sprinting. Subjects exercised the quadriceps and hamstring muscle groups using a Cybex dynamometer at an angular velocity of 90 deg s-1 once a second for 6 min. At 1 min intervals the quadriceps were electrically stimulated via the femoral nerve to produce an isometric contraction which was then released into an isokinetic shortening contraction at 90 deg s-1. 2. The extent of central fatigue was assessed by comparing the force of a voluntary isokinetic contraction with that elicited by electrical stimulation during isokinetic releases. Two subjects were repeatedly tested. In the first series of experiments, exercising the quadriceps of one leg, the instantaneous power fell to about 50% over the course of 2 min and remained constant for the rest of the exercise. For one subject the voluntary and electrically stimulated forces declined in parallel while for the second subject the voluntary force was 10% less than the stimulated force at the end of the exercise. These results show that central fatigue represented a minor factor contributing no more than one-fifth of the total loss of power in these circumstances. 3. In a second series of experiments the subjects alternately contracted the quadriceps and the hamstrings of both legs in an exercise which had a high rating of perceived exertion and entailed considerable respiratory and cardiovascular effort. The time course and proportionate loss of power were very similar to those seen with the one-leg exercise and neither subject showed evidence of significant central fatigue. The pattern of force loss was very similar for the hamstrings. We conclude that, for determined subjects, afferent feedback from muscles, tendons and joints or from the respiratory and cardiovascular systems does not have a major role in inhibiting voluntary activation of the quadriceps during heavy exercise. 4. In both series of experiments the power output during electrically stimulated isokinetic contractions was reduced to 50% of the initial value after 2 min of exercise while the isometric force, measured immediately before the release, fell to only 75%. This suggests that fatigue affects isometric and shortening contractions to different extents and the loss of power may be due to a combination of factors, only one of which is evident in the loss of isometric force.

Adult↗
PubMed1995

Salmonella, Campylobacter and Escherichia coli O157:H7 decontamination techniques for the future.

Raw meat, particularly poultry meat, remains an important, and probably the major source of human infection with campylobacters and salmonellas. In spite of decades of effort it has so far proved extremely difficult to raise food animals free of these pathogens. For the foreseeable future, therefore, the most effective approach must be to decontaminate the final raw product. In this way numbers of these pathogens entering kitchens and commercial food processing premises will be reduced substantially, and hence opportunities for cross-contamination onto ready-to-eat foods or for survival during cooking or other processes will be much lower. The ideal method of decontamination will have the following attributes: it will not change appearance, smell, taste or nutritional properties; it will leave no residues; it will pose no threat to the environment; it will encounter no objections from consumers or legislators; it will be cheap and convenient to apply; it will improve the shelf life by inactivating spoilage organisms as well as pathogens. Various techniques will be listed and their potential assessed (see Table 1).

Acids↗
PubMed1995

(S)-1-[3-hydroxy-2-(phosphonylmethoxy)propyl]cytosine (cidofovir): results of a phase I/II study of a novel antiviral nucleotide analogue.

Cidofovir, (S)-1-[3-hydroxy-2-(phosphonylmethoxy)propyl]cytosine, is a novel antiviral nucleotide analogue with potent in vitro and in vivo activity against cytomegalovirus (CMV) and other herpesviruses. Thirty-one human immunodeficiency virus-seropositive patients with asymptomatic CMV excretion were evaluated in a phase I/II study with 2 regimens of cidofovir: cidofovir alone at doses of 0.5, 1.0, 3.0, or 10.0 mg/kg/week (20 patients) and cidofovir at 3.0, 5.0, or 7.5 mg/kg with concomitant oral probenecid, saline prehydration, extended dosing intervals, and drug interruption for proteinuria (19 patients). Prolonged and dose-dependent anti-CMV effect was observed with all cidofovir regimens > or = 3.0 mg/kg. The dose-limiting toxicity of cidofovir was dose- and schedule-dependent nephrotoxicity. Four of 20 patients had serum creatinine levels > or = 2.0 mg/dL after a mean cumulative exposure of 14.8 mg/kg cidofovir alone; however, none of 19 patients receiving the modified regimen had elevated creatinine (mean cidofovir exposure, 32.2 mg/kg). The clinical efficacy of cidofovir and its potential for cumulative nephrotoxicity needs further study in patients with end-organ CMV disease.

AIDS-Related Opportunistic Infections↗
PubMed1995

The description of levels in nursing degrees: an illustration and analysis of the variations.

This study has analysed the level descriptors of Higher Award degree programmes offered by a random sample of 15 colleges of nursing and midwifery in England. The analysis revealed a wide variation in the way each level (1, 2, 3 and M) had been defined. The variation occurred in a range of different ways. The main categories of variation were: the style of the descriptor; the features defined by the descriptor; the use of descriptors in the cognitive domain; the use of dimensions of professional knowledge and practice such as autonomy and reflective practice; and progression between the levels. The context of the study is described and the implications of the study and possible ways forward are discussed.

Career Mobility↗
PubMed1995

Characterization of growth hormone-induced tyrosine-phosphorylated proteins in mouse cells that express GH receptors.

Following the growth hormone (GH) and GH receptor (R) interaction, the receptor and Janus tyrosine kinase 2 (JAK2) become tyrosine phosphorylated along with other intracellular proteins. Previously, we reported that GH induces tyrosine phosphorylation of intracellular proteins with molecular masses of approx 95 kDa (pp95) in mouse 3T3-F442A preadipocytes and in mouse L-cells that express recombinant GHRs. We have studied this GH-induced phosphorylation event in greater detail. Three proteins with apparent molecular masses of 93, 95, and 96 kDa showed increased tyrosine phosphorylation in a time-dependent manner following GH treatment of cells that express GH receptors. GH-induced tyrosine phosphorylation of these proteins is independent of activation of protein kinase C (PKC). Cell fractionation studies revealed that the majority of tyrosine-phosphorylated pp95/96 is located in the cytoplasm. pp95 and pp96 have pIs of approx 6.2. Immunoprecipitation and Western blot analyses revealed that pp93 and pp95/96 are not immunologically related with Stat1, Stat3, Stat4, JAK2, and GHR. Thus, pp93 and pp95/96 may be important GH signal transducers independent of PKC activation and different from the characterized members in the JAK-STAT pathway.

Animals↗
PubMed1994

An evaluation of different protocols for measuring the force-velocity relationship of the human quadriceps muscles.

A modified Cybex II isokinetic dynamometer was used to evaluate the problems associated with measuring the concentric force-velocity characteristics of human knee extensor muscles. Three contraction protocols were investigated, simple voluntary contractions (VC); releases from maximal voluntary isometric contractions (VR) and releases from isometric femoral nerve stimulated contractions (FNR). Percutaneous stimulation of the quadriceps was unsuitable for dynamic contractions as the proportion of the muscle activated varied with the angle of knee flexion. Isometric length-tension relationships and isokinetic contractions at seven angular velocities between 0.5 and 5.2 rad.s-1 were recorded in five subjects. During isometric and slow dynamic contractions the voluntary forces were often greater than those obtained by femoral nerve stimulation, probably due to subjects stretching the rectus femoris during voluntary manoeuvres. It was found that the VC protocol produced acceptable isokinetic force recordings only at velocities below 3.1 rad.s-1 in most subjects whilst VR contractions resulted in unexpectedly low forces at velocities below 1.57 rad.s-1. Of the three techniques employed, FNR, although uncomfortable for subjects, provided the most accurate and reliable method of measuring force-velocity characteristics of knee extensor muscles. FNR contractions produced a force-velocity curve which showed a smooth decline in force with increasing velocity up to 5.2 rad.s-1. VC contractions appear to be an acceptable alternative for testing the muscles provided the angular velocity is less than 3.1 rad.s-1 and the subjects can be prevented from stretching the rectus femoris during the movement.

Adult↗
PubMed1994

Use of the Foley catheter as a cervical ripening agent prior to induction of labor.

OBJECTIVE: To study the effect of the extraamniotic Foley catheter as a cervical ripening agent prior to induction of labor. METHOD: A descriptive study was carried out on 187 patients who had labor induced following cervical ripening with the extraamniotic Foley catheter. There were 99 nulliparas and 88 multiparas whose labor outcomes were analyzed separately. RESULTS: The mean change in the modified Bishop score was 3.7 for nulliparas and 3.3 for multiparas. The induction-delivery interval was 8.7 h for nulliparas and 5.5 h for multiparas. CONCLUSION: The Foley catheter was found to be an effective agent for cervical ripening in both primiparas and multiparas and its use was not associated with any complications.

Adult↗