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Biomedical subjects

C West

Publications and source records attributed to C West.

At least 73 records · Page 4Linked to original sources
PubMed1997

Effects of psychotherapy in moderately severe COPD: a pilot study.

Anxiety is common in the "pink puffer" syndrome associated with chronic obstructive pulmonary disease (COPD). The degree of anxiety correlates well with perceived dyspnoea. This pilot study examines the effect of group psychotherapy on anxiety, exercise tolerance, dyspnoea and quality of life. Ten patients with moderately severe, stable COPD (mean forced expiratory volume in one second (FEV1)-1.15 L) had six 90 min sessions of cognitive and behavioural psychotherapy at weekly intervals. Patients completed the Hospital Anxiety and Depression Scale (HADS), Medical Research Council Questionnaire (MRCQ) and St George's Respiratory Questionnaires (SGRQ), 1 week before and after therapy. FEV1, forced vital capacity (FVC), slow vital capacity (SVC), blood gas tensions and 6 min walking distance (6MWD) were measured. Eight control patients attended weekly for lung function and 6MWD for 6 weeks, but had no psychotherapy. Mean baseline HADS score was significantly higher in the psychotherapy group (12) than in controls (7), but otherwise there were no differences in lung function, blood gas tensions, 6MWD, or the other questionnaire scores between groups. After treatment, the physiological and psychological parameters where unchanged in both groups with the exception of the mean 6MWD, which had improved in the psychotherapy group only, from 351 to 423 m (p<0.001), an increase of 24%. Three months after treatment, the 6MWD was still 16% above the baseline value (p=0.02). In conclusion, six sessions of cognitive and behavioural psychotherapy produced a sustained improvement in exercise tolerance in a group of 10 anxious patients with severe chronic obstructive pulmonary disease, without any change in anxiety scores on the Hospital Anxiety and Depression Scale. Further studies of more prolonged, intensive psychotherapy would establish whether better symptom and quality of life scores accompany more dramatic increases in exercise tolerance in "pink puffers".

Aged↗
PubMed1997

HLA-H and associated proteins in patients with hemochromatosis.

BACKGROUND: The 845A(C282Y) mutation in the HLA-H gene accounts for most cases of hereditary hemochromatosis in patients who are of European origin. Some lack this mutation, however, and it is not present in Asian patients. Thus, other mutations either in HLA-H or associated proteins may be present in such patients. HLA-H associates with beta-2-microglobulin. Calreticulin associates with class 1 HLA proteins and appears to be identical with mobilferrin, a putative iron transport protein. These two proteins are therefore candidates for mutations in patients with hemochromatosis. MATERIALS AND METHODS: We have sequenced the coding region and parts of introns of the HLA-H gene, the beta-2-microglobulin gene, and the calreticulin (mobilferrin) gene of 10, 7, and 5 hemochromatosis patients, respectively, selecting those who were not homozygous for the 845A(C282Y) mutation. The number of chromosomes at risk studied were 18 for HLA-H, 14 for beta-2-microglobulin and 10 for calreticulin. RESULTS: We detected 3 new intronic polymorphisms in the HLA-H gene, each a point mutation. Some differences from published sequences of beta-2-microglobulin and calreticulin were documented, but these were uniformly present in all samples. CONCLUSIONS: The lack of additional mutations in the HLA-H gene is remarkable, and we speculate that the C282Y mutation may be a gain-of-function change.

Asia↗
PubMed1996

Mutation analysis in hereditary hemochromatosis.

The DNA of 147 patients of European origin clinically diagnosed with idiopathic hemochromatosis and 193 controls was examined for mutations of the HLA-H gene at nt 845 and nt 187. One hundred twenty-one (82.3%) of the hemochromatosis patients were homozygous and 10 (6.8%) heterozygous for the 845A (C282Y) mutation. All of the homozygous patients were also homozygous for nt 187C, and all 845A heterozygotes had at least one copy of 187C. Thus, the nt 845 and nt 187 mutations were in complete linkage disequilibrium; nt 187 was a C on all chromosomes with the 845A mutation. Eight of the 10 heterozygotes for 845A were heterozygous for 187G(H63D). The excess of heterozygotes at both nt 187 and nt 845 suggested either the presence of as yet undiscovered mutations existing in trans with 845A and in linkage disequilibrium with 187G, or that the 187G itself is a deleterious mutation, which in concert with the 845A can give rise to hemochromatosis. None of the 193 normal controls were homozygous for 845A and 29/193 (15%) were heterozygous for 845A. Although 47/193 (24.3%) of normal controls were heterozygous for the 187G mutation only two of these carried the 845A mutation. If the 187G mutation complemented the 845A mutation with high penetrance in causing hemochromatosis, then the population frequency of the two genes would require that a high proportion of patients with hemochromatosis be heterozygous for 845A and 187G. Instead, the frequency of homozygotes for the 845A mutation was much higher than that of the 845A/187G genotype. Based on our data, the penetrance of the 845A/187G genotype is only 1.5% and based on the data of Feder et al. only 0.5%. In contrast, the penetrance of the homozygous 845A/845A genotype seems to be very high. Thus, screening for this genotype should be very useful.

Alleles↗
PubMed1996

Treatment of anovulatory infertility: the problem of multiple pregnancy.

The aim of the study was to assess patient, treatment and cycle characteristics in relation to the risk of multiple conception following ovulation induction in order to reduce the prevalence of this complication of treatment. We performed a retrospective analysis of 208 pregnancy cycles achieved in the Middlesex Hospital outpatient fertility unit. These pregnancies were achieved in 175 anovulatory women who conceived after gonadotrophin or pulsatile GnRH therapy. The multiple conception rate was 13.4%. After spontaneous reductions and abortions the multiple delivery rate was 9.6%. Clinical features associated with an increased risk of multiple pregnancies were the presence of polycystic ovary syndrome and secondary infertility. Comparison between different protocols of ovulation induction revealed no relationship with the risk of multiple conceptions. Although total number of follicles was increased in the multiple conception cycles, the distribution of follicles according to their diameter on the day of human chorionic gonadotrophin (HCG) administration was similar in multiple and singleton conception cycles. Thus, the risk of multiple conception could not be attributed to an increased number of follicles of any particular size but directly related to the total number of the cohort follicles ( > or = 14 mm) and leading follicles > or = 17 mm), rising from 7% with one follicle to 33% with six or more follicles. As we could not find a specific pattern of follicular development that could be associated with multiple conception, we conclude that the difference in the ovarian response leading to multiple conception is quantitative rather than qualitative. The data presented enable the assessment of the risk of multiple conception in any given cycle.

Adult↗
PubMed1996

Quantification of voiding dysfunction in patients awaiting transurethral prostatectomy.

PURPOSE: We investigated the role of advanced urodynamic analysis in the diagnostic evaluation for transurethral resection of the prostate. MATERIALS AND METHODS: A total of 62 consecutive patients awaiting transurethral resection of the prostate with the American Urological Association symptom score of more than 12, peak flow rate less than 13 ml. per second and significant residual urine underwent routine video pressureflow studies with advanced urodynamic analysis to quantify outflow function. Postoperative outcome was assessed at 3 months by symptom scores, uroflowmetry and ultrasonography (residual urine). RESULTS: The parameters used in the diagnostic evaluation for transurethral resection of the prostate did not correlate with urodynamic diagnosis of unequivocal obstruction. Weak detrusor contractility (without significant obstruction) accounted for voiding dysfunction in 50% of the patients. The results of transurethral resection of the prostate were significantly better in patients with unequivocal compared to equivocal obstruction. Furthermore, patients with unequivocal obstruction but weak detrusor contractility had a significantly poorer treatment outcome. CONCLUSIONS: Advanced urodynamic analysis in the diagnostic evaluation of patients with symptomatic benign prostatic hyperplasia can predict treatment outcome and, therefore, allows the urologist to choose the most appropriate therapeutic option for individuals.

Aged↗
PubMed1995

A strategy for cloning the hereditary hemochromatosis gene.

Selective hybridization of small intestine and liver cDNA libraries was carried out using yeast artificial chromosomes (YACs) surrounding D6S105, the microsatellite that appears to be close to the gene for hereditary hemochromatosis (HFE). Of 14 candidate probes hybridizing with these YACs, only one, designated. LD5-1, detected abnormalities in southern blots of patients with hemochromatosis. Two different abnormalities. were detected in 3 of 55 patients with hemochromatosis with the LD5-1 probe, and one of these was detected in one of 44 normal subjects. The gene that hybridizes with this probe is located about 300-400 kb centromeric of D6S105. It is transcribed into mRNA that is about 8.5 kb in length in many tissues, including peripheral blood leukocytes. The available sequence indicates tha it codes for a zinc finger protein. We propose that there is a reasonable probability that LD5-1 hybridizes with the gene for hereditary hemochromatosis.

Base Sequence↗
PubMed1995

Polycystic ovary syndrome: the spectrum of the disorder in 1741 patients.

The criteria for the diagnosis of the polycystic ovary syndrome (PCOS) have still not been agreed universally. A population of 1741 women with PCOS were studied, all of whom had polycystic ovaries seen by ultrasound scan. The frequency distributions of the serum concentrations of follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone and prolactin and the body mass index, ovarian volume, uterine cross-sectional area and endometrial thickness were determined and compared with the symptoms and signs of PCOS. Obesity was associated with hirsutism and an elevated serum testosterone concentration and was also correlated with increased rates of infertility and cycle disturbance. The rates of infertility and cycle disturbance also increased with serum LH concentrations > 10 IU/l. A rising serum concentration of testosterone [mean and 95th percentiles 2.6 (1.1-4.8) nmol/l] was associated with an increased risk of hirsutism, infertility and cycle disturbance. The ovarian volume was correlated with serum concentrations of testosterone, LH and the body mass index, which was also correlated with the uterine area. This descriptive data from the largest reported series of women with PCOS enables the development of a management-orientated approach to the syndrome. Women who are overweight can expect an improvement in their symptoms if they lose weight. An elevated concentration of LH (> 10 IU/l) is associated with infertility and treatment should be chosen accordingly. If the serum testosterone concentration is > 4.8 nmol/l, other causes of hyperandrogenism should be excluded.

Adolescent↗
PubMed1995

The aetiology of solitary hot spots in the ribs on planar bone scans.

The aim of this study was to determine the aetiology of solitary hot spots in the ribs found at bone scintigraphy in patients with known extraskeletal malignancy. A group of 34 patients whose bone scans showed a solitary hot spot in a rib were identified retrospectively over a 4-year period. They all had a known extraskeletal malignancy. Aetiology of the rib hot spot was established in 26 patients based on a review of clinical features, radiographic findings and clinical follow-up. In eight cases it remained indeterminate. In 14 (41%) cases, the rib lesion was malignant in origin, 9 were due to metastasis and 5 due to direct spread from intrapulmonary malignancy. In 12 (35%) cases, it was benign. In the remaining 8 (24%) cases, the aetiology was indeterminate. In the subgroup of 14 hot spots confined to the anterior rib end, 5 (36%) were due to malignancy, 4 (28%) were benign and 5 (36%) were indeterminate. We conclude that solitary hot spots in the ribs of patients with known extraskeletal malignancy undergoing bone scintigraphy are frequently (41%) malignant in origin. This also applies when the hot spot is in the anterior rib end (36% malignant). Thus, such hot spots are far more sinister than previously reported and require careful clinical and radiographic evaluation.

Adult↗
PubMed1995

Maisonneuve fracture with an associated distal fibular fracture. A case report.

A 46-year-old woman had a severe torsional injury to her left leg. Admission radiographs showed a proximal Maisonneuve-type fibular fracture with an associated distal fibular fracture at the level of the distal tibiofibular syndesmosis. A complete syndesmotic disruption, proximal and distal to the distal fibular fracture, was verified at surgical exploration as was a complete deltoid ligament tear. Management consisted of internal fixation of the distal fibular fracture and placement of a syndesmotic screw. At 1-year followup, the patient reported normal ankle function. This case represents an unusual, and perhaps previously undescribed, variant of the so-called Maisonneuve fracture. The need for careful evaluation of the entire leg in torsional injuries of the ankle is underscored by the injury presented.

Ankle Injuries↗
PubMed1994

Homology between a human protein and a protein of the green garden pea.

In screening a rat mucosa cDNA subtraction library, a clone that exhibited a remarkable degree of homology with a previously described cDNA from the green garden pea, designated the 26g pea turgor protein, was found. A partial cDNA sequence from rat and a complete cDNA sequence from human were obtained. The deduced human protein had a molecular weight of 55,285 and was designated antiquitin because of its remarkable level of conservation through evolution. Human antiquitin was 60% homologous to the green pea 26g with only a single amino acid gap in each sequence. The 66 amino acids at the carboxyl ends of the human antiquitin and pea 26g proteins were 86% identical, and one segment of 52 amino acids was 92% identical. A similar partial sequence encoding 164 amino acids has been detected in Caenorhabditis elegans. Yeast DNA was found to have sequences that hybridize with a human antiquitin probe on Southern blotting. Analysis of the amount of mRNA in various rat and human tissues indicated that the largest amounts were found in rat kidney and liver and in cultured human hepatoma cells. Only minimal amounts were detected in human peripheral blood leukocytes, rat lung, or cultured human fibroblasts. Attempts to induce the mRNA by heat-shock, dehydration, ionizing irradiation, or treatment with iron, t-butylhydroperoxide, or glucocorticoids were unsuccessful. The function of the protein remains unknown.

Aldehyde Dehydrogenase↗
PubMed1994

Striatal D2 dopamine receptor binding characteristics in vivo in patients with alcohol dependence.

Striatal D2 dopamine receptor characteristics of nine male patients with alcohol dependence abstinent for 1-68 weeks and eight healthy male volunteers were studied in vivo with positron emission tomography. The selective D2 receptor ligand [11C]raclopride and equilibrium model was used for D2 receptor density (Bmax) and affinity (Kd) measurements. A trend for a decreased striatal D2 receptor density and for reduced D2 receptor affinity was observed in patients with alcohol dependence. These parameters were not statistically significantly different between alcoholics and controls, but the ratio between D2 receptor density and affinity (Bmax/Kd or the striatum/cerebellum ratio from the high specific activity scan) was highly significantly lower in alcoholics than that of controls. In conclusion, the low D2 dopamine receptor Bmax/Kd ratio (striatum/cerebellum ratio) indicates that specific aspects of striatal [11C]raclopride binding in vivo are deviant in alcoholics compared to controls. The result is compatible with a reduced avidity of striatal dopamine D2 receptors in alcoholics, which is in line with the idea that D2 dopaminergic mechanisms are involved in the biology of alcohol dependence in man.

Adult↗
PubMed1994

A brief sensitive screening instrument for depression in late life.

Data collected with the depression scale (DEP) of the Brief Assessment Scale (BAS) at interviews with 811 elderly subjects were analysed to determine which of its 21 individual items could be selected to produce a short screening scale for depression which would have less than 10 items and a Cronbach's alpha above 0.8. Eight items which fulfilled these requirements were selected to form the Even Briefer Assessment Scale for Depression (EBAS DEP). The validity of the scale was assessed against psychiatric diagnoses made on a subset of 211 subjects. The EBAS DEP had a sensitivity and specificity for a diagnosis of a DSM-III-R mood disorder (depressed) of 0.91 and 0.72, respectively. The EBAS DEP could be useful as a brief screen for depression in busy hospital and primary care settings where a full assessment of mood for every patient is impractical. The EBAS DEP is presented, together with instructions for its use, to enable independent study of its reliability and validity in other populations.

Aged↗
PubMed1994

Cumulative conception and live birth rates after the treatment of anovulatory infertility: safety and efficacy of ovulation induction in 200 patients.

An analysis was performed on the cumulative conception rates, cumulative live birth rates and adverse effects of ovulation induction in patients with anovulatory infertility attending a single unit over an 11-year period. A total of 200 patients were included, 103 with clomiphene-resistant polycystic ovary syndrome (PCOS), 77 with hypogonadotrophic hypogonadism (HH) and 20 with weight-related amenorrhoea (WRA). Ovulation induction was performed using a number of protocols in which pulsatile luteinizing hormone-releasing hormone was administered s.c. or i.v. and gonadotrophins (human menopausal gonadotrophins or follicle-stimulating hormone) were administered i.m. The cumulative conception and live birth rates in the first course of therapy and after 12 cycles of treatment were, respectively, 73.2 and 62.4% in PCOS patients, 82.1 and 65.4% in the HH group and 95.0 and 85.3% in the WRA group. The miscarriage rates for all courses of treatment were 15.5% in PCOS patients, 22.9% in HH patients and 32.3% in WRA patients which resulted in cumulative live birth rates that were not significantly different. The median number of cycles and ovulations to achieve a pregnancy was 2 in all groups. The multiple pregnancy rate was significantly greater in women with PCOS (17.9%) than in women with HH (3.6%, P = 0.0052, 95% CI 5.12-23.36%) but not WRA (3.2%, P = 0.07, 95% CI 4.35-24.92%). The rate of multiple pregnancy fell after the introduction of monitoring by transvaginal ultrasound. Correction of anovulatory infertility by appropriately selected ovulation induction regimens results in cumulative conception and live birth rates indistinguishable from normal.

Amenorrhea↗
PubMed1994

Significance of false-positive auditory brainstem response: a clinical study.

Auditory brainstem response (ABR) is a good screening test for cerebellopontine angle (CPA) tumors and other retrocochlear diseases. The pathologic correlates of many cases with positive ABR remain unknown. A two-staged clinical study was performed to help us understand the significance of a false-positive ABR. In the first stage, data from 66 patients with abnormal ABR were reviewed. Nineteen patients had identifiable causes for the ABR abnormality, whereas 47 patients had no lesions identified. In the second phase of the study 21 of the 47 patients were re-evaluated with a minimum follow-up period of 1 year. A detailed interval history was obtained, and the work-up, including imaging studies, was repeated in an attempt to reach a diagnosis. One patient was found to have a CPA tumor, but for nine patients a definite final diagnosis could not be determined. The implications of abnormal ABR and normal initial imaging study are discussed, and a plan for the work-up of these patients is suggested.

Adult↗