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Biomedical subjects

L Robinson

Publications and source records attributed to L Robinson.

At least 37 records · Page 2Linked to original sources

Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q.

Family-based association mapping was used to follow up reports of linkage between reading disability (RD) and a genomic region on chromosome 15q. Using a two-stage approach, we ascertained 101 (stage 1) and 77 (stage 2) parent-proband trios, in which RD was characterized rigorously. In stage 1, a set of eight microsatellite markers spanning the region of putative linkage was used and a highly significant association was detected between RD and a three-marker haplotype (D15S994/D15S214/D15S146: P and empirical P < 0.001). A significant association with the same three-marker haplotype was also observed in the second-stage sample (P = 0.009, empirical P = 0.006). Our data therefore provide strong evidence for one or more genes contributing to RD being located in the vicinity of the region including D15S146 and D15S994. In addition, our results provide support for association analysis being a useful method to map susceptibility loci for complex disorders.

Chromosome Mapping↗

A novel dicentric deleted chromosome 21 arising from tandem translocation.

We present a 26-year-old patient with myelodysplastic syndrome (MDS). Initial bone marrow cytogenetics with G-banding showed a rearranged chromosome 21, which was dicentric and bisatellited on CBG- and NOR-banding. Fluorescence in situ hybridization helped to characterize the structure, using a whole chromosome 21 paint and the locus specific AML1 gene probe. The rearranged 21 consisted solely of chromosome 21 material, contained only one copy of AML1, and was not a trisomy, but a deleted tandem translocation. The MDS transformed to acute myeloid leukemia (AML), and the patient died almost 12 months post-diagnosis. Cytogenetics was performed three times during the course of the disease, and the dicentric chromosome 21 was present throughout. Although there are a number of published rearrangements of chromosome 21 in MDS and AML, most are isodicentrics. We could not find another case of an abnormal chromosome 21 with the same structure as reported here.

Acute Disease↗

Psychosocial impact of recurrent cancer.

The experience of cancer recurrence is multifaceted and is influenced by social support, family support and medical and nursing intervention. The diagnosis of recurrence is often more traumatic than the initial diagnosis and the future for the patient becomes less certain. A chronic illness model provides a useful framework for understanding the experience of recurrent cancer. People who are diagnosed with recurrent cancer recognize that it is a time of re-evaluation, transformation and redefinition. Relationships take on an important significance and informational and support needs are paramount. Much of the literature suggests that the role transformation, or the adaptation of the individual to their circumstances, is a central theme of the experience of cancer recurrence. The development of a specific model to assess the role transformation that patients appear to experience in the face of the uncertainty of their recurrent disease, would be invaluable when developing a theoretical framework to guide future research and nursing care.

Journal Article↗

Use of and attitudes about alternative and complementary therapies among outpatients and physicians at a municipal hospital.

OBJECTIVES: To survey outpatients and physicians about their use of, knowledge of, and interest in alternative therapies. DESIGN: Anonymous self-administered survey. SETTINGS/LOCATION: Outpatient clinics at a major municipal medical center. SUBJECTS: Outpatients visiting clinics and staff physicians. INTERVENTIONS: Patient survey about overall use of 7 categories and 19 types of alternative therapies, and their desire to have specific therapies offered at the institution. Survey to physicians about whether their patients used the same categories and types of alternative therapies, whether they provided or recommended their use, and their interest in having them available at the institution. OUTCOME MEASURES: Frequency of use of different alternative therapies by gender and race. Frequency of patient use of alternative therapies according to their physicians and frequency of physicians who provide or recommend alternative therapies. RESULTS: A total of 567 outpatients completed questionnaires during the survey week. When given a list of alternative therapies, 85% of patients acknowledged use of one or more alternative therapies. When Diet/Nutrition was excluded, 42% reported use of alternative therapies. No differences in overall use were seen by age, sex, or race; but when Diet/Nutrition was excluded, women were more likely to use alternative therapies, and use of Manual Healing and Herbal Medicine differed by race. Of the 85 responding physicians, 86% reported that their ambulatory patients used alternative therapies. Similar proportions (35%-38%) of patients and physicians wanted Manual Healing and Mind/Body Control therapies to be available. CONCLUSIONS: Frequency of use of alternative therapies was high, and similar according to patients and physicians. Overall use did not differ by gender and race, except when Diet/Nutrition was excluded. Patients and physicians had similar interests in having alternative therapies provided, and both were hampered by lack of information about many therapies.

Adolescent↗

Clototripsy?

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Cerebrovascular Circulation↗

Epidemiology of fetal alcohol syndrome in a South African community in the Western Cape Province.

OBJECTIVES: This study determined the characteristics of fetal alcohol syndrome in a South African community, and methodology was designed for the multidisciplinary study of fetal alcohol syndrome in developing societies. METHODS: An active case ascertainment, 2-tier methodology was used among 992 first-grade pupils. A case-control design, using measures of growth, development, dysmorphology, and maternal risk, delineated characteristics of children with fetal alcohol syndrome. RESULTS: A high rate of fetal alcohol syndrome was found in the schools--40.5 to 46.4 per 1000 children aged 5 to 9 years--and age-specific community rates (ages 6-7) were 39.2 to 42.9. These rates are 18 to 141 times greater than in the United States. Rural residents had significantly more fetal alcohol syndrome. After control for ethnic variation, children with fetal alcohol syndrome had traits similar to those elsewhere: poor growth and development, congruent dysmorphology, and lower intellectual functioning. CONCLUSIONS: This study documented the highest fetal alcohol syndrome rate to date in an overall community population. Fetal alcohol syndrome initiatives that incorporate innovative sampling and active case ascertainment methods can be used to obtain timely and accurate data among developing populations.

Age Distribution↗

Describing the work of nursing: the case of postsurgical nursing interventions for men with prostate cancer.

Nursing interventions were provided to older men following prostate surgery during a controlled clinical trial examining nursing care and its effects on quality of life outcomes. The Nursing Intervention Lexicon and Taxonomy (NILT), consisting of 7 categories of nursing interventions, was used to classify intervention statements extracted from 32 home care records. Two major categories of interventions were patient teaching (45%) and psychologically based interventions (20%). In a comparison of the types of interventions provided upon discharge from the hospital with those provided at the end of 1 month of home care, it appeared that patients had not yet shifted from the crisis to the chronic phase of their illness course based on Rolland's framework.

Abstracting and Indexing↗

Expression of testicular genes in haematological malignancies.

The gene expression of a new group of tumour antigens known as cancer/testis (CT) antigens is now well-recognized in some solid tumours. However, their expression in haematological malignancies remained unclear. In this study, we have used reverse transcription polymerase chain reaction and Southern blot analysis to examine the presence of transcripts for the three CT antigens, NY-ESO-1, SSX2 and SCP1 in haematological malignant cells. We found that transcripts for SCP1 could be detected in 10% of myeloma, 5.7% of acute myeloid leukaemia and 23% of chronic myeloid leukaemia. In contrast, NY-ESO-1 and SSX2 were not detected in any of the 107 tumour samples.

Antigens, Neoplasm↗

A phase II study of carboplatin plus gemcitabine in advanced non-small-cell lung cancer (NSCLC): a hoosier oncology group study.

The purpose of this study was to evaluate the toxicity and determine the response rate, duration of remission, and survival using gemcitabine plus carboplatin in non-small cell lung cancer (NSCLC). This was a phase II study of gemcitabine and carboplatin in chemotherapy-naive patients with advanced NSCLC and Karnofsky Performance Status of at least 80. Gemcitabine was administered intravenously at 1,000 mg/m2 weekly for 3 weeks followed by 1 week rest. Carboplatin was administered immediately after gemcitabine at an area under the curve (AUC) of 5 given intravenously on day 1 of an every-4-week cycle. Seven patients were entered in the study and five were evaluable for toxicity. The median age of patients was 68 years (range, 52-72). The protocol was prematurely terminated because of severe and unexpected hematologic toxicity. Grade 3-4 thrombocytopenia was observed in four of the first five patients. These toxicities were all observed with the first course of chemotherapy. There were no objective responses seen. Median survival time was 130 days. Carboplatin plus gemcitabine was a logical combination. However, because of the severe thrombocytopenia associated with this regimen, we do not recommend this two-drug combination in the dose and schedule used in this study.

Aged↗

Comparative measurements of serum estriol, estradiol, and estrone in non-pregnant, premenopausal women; a preliminary investigation.

Little to no data exists in the literature for serum estriol values in non-pregnant, premenopausal women. The current medical community opinion holds that estriol has no significant role in non-pregnant women relative to the other estrogens. It is a possibility that estriol's primary function has yet to be discovered. Accordingly, the first step is to understand cycle-dependent serum estriol concentrations. We have made a preliminary investigation for serum estriol concentration of 26 women during the known cycle peaks of estrone and estradiol. Five of the women were also tested for serum estriol on various days throughout the cycle in order to develop a cycle-dependent concentration profile. The result of these experiments show that serum estriol was always significantly higher than the sum of estrone and estradiol and less fluctuating. We conclude that estriol is probably a significant estrogen component.

Adult↗

Accuracy of leveling hemodynamic transducer systems.

Critically ill patients frequently have invasive catheters placed to monitor hemodynamic pressures and to calculate hemodynamic indices. Correct leveling to the appropriate anatomical structure is critical as the pressure readings guide management of fluids, drug administration, and other interventions. The authors of this study investigated the accuracy with which registered nurses and respiratory technologists were able to level hemodynamic transducers to the phlebostatic axis using visual checks, a carpenter's level, and a laser leveling device. The results indicate that both groups were unable to accurately level transducers with visual checks alone. Use of a leveling tool improved accuracy. The laser level was superior for accuracy and speed and preferred for dexterity required, ease of use and patient safety. The data supports the need for a tool to accurately level hemodynamic transducer systems and suggests that the laser leveling device is the tool of choice.

Analysis of Variance↗

Ab-normative data.

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Evoked Potentials, Motor↗

Pulmonary edema as a result of chronic upper airway obstruction.

This is the first case of an adult who developed recurrent pulmonary edema as a result of unrecognized chronic upper airway obstruction due to polyarticular juvenile rheumatoid arthritis. The case highlights the importance of considering upper airway involvement in the differential diagnosis of sedentary patients with arthritic joint disease and breathing difficulties.

Airway Obstruction↗