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Biomedical subjects

P Murphy

Publications and source records attributed to P Murphy.

At least 145 records · Page 8Linked to original sources

Exclusion of linkage of schizophrenia to the gene for the dopamine D2 receptor (DRD2) and chromosome 11q translocation sites.

There have been previous reports of a 1q43;11q21 translocation cosegregating with schizophrenia and a 9p22;11q22.3 translocation cosegregating with manic depression. In addition, the genes for the dopamine D2 receptor and for tyrosinase both map to chromosome 11q. Three 11q DNA markers were used to investigate 23 pedigrees containing multiple cases of schizophrenia. Strongly negative lod scores were obtained, providing evidence against linkage over a 70 cM region which included both translocation sites and both candidate genes.

Chromosome Mapping↗

Do hydrophilic guidewires affect the technical success rates of percutaneous angioplasty?

To determine whether the use of hydrophilic guidewires has influenced the success of peripheral percutaneous transluminal angioplasty (PTA), the results of PTA performed before and after the introduction of such guidewires (end of 1989) were analyzed. Before hydrophilic guidewires became generally available, the technical success rates for iliac stenosis PTA were 96%, for femoral stenosis PTA 84%, and for femoral occlusion 78%. After the introduction of hydrophilic guidewires, technical success rates were 100% (NS), 97% (P = 0.018), and 97% (P = 0.011), respectively. A prospective study of 33 patients randomly selected for PTA of femoropopliteal occlusion using either conventional or hydrophilic guidewires was performed. In this group, the technical success rate was 14/15 in the hydrophilic group, and 18/18 in the conventional group (NS). Since the introduction of hydrophilic guidewires, the technical success rates of PTA have improved and are now approaching 100%.

Angioplasty, Balloon↗

Investigation by linkage analysis of the XY pseudoautosomal region in the genetic susceptibility to schizophrenia.

BACKGROUND: A susceptibility locus for schizophrenia in the pseudoautosomal region has been proposed on the basis of a possible excess of sex chromosome aneuploidies among patients with schizophrenia and an increased sex concordance in affected sib pairs. Several studies investigating this hypothesis have produced conflicting evidence. METHOD: In a series of Icelandic and British families, we used lod score and sib pair linkage analyses with markers for the MIC2 and DXYS14 loci on the pseudoautosomal XY region. RESULTS: Lod and sib pair linkage analysis with these markers produced strongly negative scores. Heterogeneity testing also produced negative results. CONCLUSION: We conclude that the present study provides no support for the involvement of either the pseudoautosomal region or the nearby region of the sex chromosomes in the aetiology of schizophrenia.

Aneuploidy↗

Fumonisin B1 is fetotoxic in rats.

Groups of 5-6 pregnant F344/N rats were dosed (po) from d 8 to 12 of gestation with 30 or 60 mg purified fumonisin B1 (FB1)/kg body weight, or with a fat-soluble extract of Fusarium proliferatum/corn culture derived from an amount of corn culture that would provide approximately 60 mg FB1/kg. Control rats were dosed with water or corn oil. Food intake was monitored daily during dosing. Fetal bone development was examined after staining with alizarin red, whereas internal organ development was examined in hematoxylin and eosin-stained tissue sections. Although group differences in maternal body weight were not statistically significant, weight was 6% less in dams dosed with 60 mg FB1/kg compared with the control group (p < 0.12). Relative litter weight was significantly suppressed by 60 mg FB1/kg. Ossification of the sternebrae and vertebral bodies was significantly impaired by FB1 treatment. Litters from mothers treated with a fat-soluble extract of F proliferatum/corn culture did not have suppression of weight or impairment of bone development. Fumonisin B1 is fetotoxic to rats by suppressing growth and fetal bone development.

Animals↗

Routine predeposit of autologous blood is not warranted before breast reduction surgery.

OBJECTIVE: To assess perioperative blood losses and transfusion requirements in patients who undergo breast reduction surgery and to gauge the impact of an autologous blood program on homologous transfusion requirements. DESIGN: A chart review of patients who underwent breast reduction surgery between 1988 and 1992. SETTING: The Ottawa General Hospital, a teaching hospital with a surgical training program but with no plastic surgery program. PATIENTS: Included in the review were all 153 patients who had breast reduction surgery during the study period. Twenty patients were excluded because either the predonation or the final hemoglobin concentration was not available. The remaining 133 patients were divided into three groups: group 1--patients who had not predonated blood (63); group 2--patients who predonated blood and received a transfusion (55); and group 3--patients who had predonated blood but did not receive a transfusion (15). MAIN OUTCOME MEASURES: The mean final hemoglobin concentrations, the number of patients who lost more than 30 g/L of hemoglobin and the requirements for homologous transfusions. RESULTS: The rate of homologous transfusion was 1% whether the patients had predonated blood or not. If a more restricted pattern of transfusion been used this rate would have been lower. The final hemoglobin concentration was similar in all three groups. More patients in group 3 (60%) lost more than 30 g/L of hemoglobin compared with the initial hemoglobin value than either group 1 (23%) or group 2 (20%) (p < 0.01). CONCLUSION: The routine inclusion in autologous blood programs of patients scheduled to undergo breast reduction surgery is not warranted.

Blood Loss, Surgical↗

Nurses and pain.

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Humans↗

Deaths associated with renal agenesis: a population-based study of birth prevalence, case ascertainment, and etiologic heterogeneity.

We report on deaths associated with renal agenesis among 211,704 consecutive births. Sources included birth and death certificates and an active birth defects surveillance system. Medical review and classification of cases were performed for 1985-1990 events. Sixty-one cases of renal agenesis were identified, and review of records was possible for 59 of the 61 cases. Of these 59 cases, 36 (61%) were confirmed, 5 (8%) were questionable, and 18 (31%) were incorrectly coded. The prevalence of confirmed cases is thus estimated at 17/100,000 births (14.2/100,000 births, excluding elective terminations and fetal deaths). Records incorrectly coded were most often those with multicystic dysplasia. Approximately one-third of cases was found by the birth defects surveillance system alone, confirming the utility of this data source for prevalence estimates. Isolated renal agenesis accounted for 44% of confirmed cases; other diagnoses included VATER association (19%), unrecognized multiple malformation syndromes (17%), exstrophy of the cloaca sequence (14%), and chromosome disorders (6%). Based on these data, prevalence rates for ICD code 753.0 and death include overascertainment of cases from erroneous coding of multicystic dysplasia and underascertainment of cases with unilateral renal agenesis associated with other malformations. Population-based ascertainment of cases by active surveillance methods and rigorous diagnostic coding standards are required to improve the accuracy of these rates. Targeted investigations of distinct subclassifications will be necessary to identify specific etiologic factors.

Humans↗

Several receptor tyrosine kinase genes of the Eph family are segmentally expressed in the developing hindbrain.

Pattern formation in the hindbrain involves a segmentation process leading to the formation of metameric units, manifested as successive swellings known as rhombomeres (r). In search for genes involved in cell-cell interactions during hindbrain segmentation, we have screened for protein kinase genes with restricted expression patterns in this region of the CNS. We present the cloning of three novel mouse genes, Sek-2, Sek-3 and Sek-4 (members of the Eph subfamily of putative transmembrane receptor protein tyrosine kinases (RTKs)), the identification of their chromosomal locations, and the analysis of their expression between 7.5 and 10.5 days of development. Before morphological segmentation, Sek-2 is transcribed in a transverse stripe corresponding to prospective r4 and the adjacent mesoderm, suggesting possible roles both in hindbrain segmentation and signalling between neuroepithelium and mesoderm. Sek-3 and Sek-4 have common domains of expression, including r3, r5 and part of the midbrain, as well as specific domains in the diencephalon, telencephalon, spinal cord and in mesodermal and neural crest derivatives. Together with our previous finding that Sek (Sek-1) is expressed in r3 and r5 (Gilardi-Hebenstreit et al., 1992; Nieto et al., 1992), these data indicate that members of the Eph family of RTKs may co-operate in the segmental patterning of the hindbrain.

Amino Acid Sequence↗

Reading deficiencies in older patients.

To participate effectively in their health care, older patients often are expected to read a wide variety of materials, including written instructions, brochures, and consent forms. This study quantitates the reading ability of older patients and compares it to that of younger patients. Two hundred seventy-two patients 30 and older were selected from five outpatient clinics at a public teaching hospital and tested for objective reading ability using the Peabody Individual Achievement Test--Revised. The 76 patients 60 and older read significantly worse (grade level 2.9) than the 196 patients younger than 60 (grade level 5.8) (P < 0.0001). Older patients also completed significantly fewer years of school than younger patients (7.3 years versus 10.6 years). Analysis of variance for age categories 30-44, 45-59, 60-74, and 75 and older confirmed declining reading ability and educational status with advancing age. Multiple regression analysis helped show that an equation could be derived to predict reading ability from age, educational status, race, and sex, but the coefficient of determination was so low (r2 = 0.39) that it cannot be considered clinically useful for individual patients. In this study, older patients read significantly worse than younger patients, and a formula that combines age, race, sex, and educational status cannot reliably predict reading ability for individual patients. Most older patients read on a level so low that they cannot be expected to read most commonly used written materials. Routine testing of reading ability may allow more appropriate design and use of written materials.

Adult↗

The Marfan syndrome gene locus as a favoured locus for susceptibility to schizophrenia.

Marfan syndrome (MS) is a rare autosomal dominant disorder of connective tissue with manifestations in the cardiovascular, ocular and skeletal systems. Genetic linkage analysis with random probes has mapped the MS locus to 15q21.1. There have been several reports of Marfan syndrome co-segregating with schizophrenia within families, which suggest that a common genetic factor may be shared between schizophrenia susceptibility and MS. This could be due to a cytogenetic abnormality affecting both genetic loci or due to co-segregation of two disease loci near each other on the same chromosome. We tested this hypothesis by using genetic linkage analysis with multiplex families. Using three genetic markers spanning the MS locus, we were unable to find evidence of linkage with schizophrenia across the Marfan syndrome locus on chromosome 15.

Chromosomes, Human, Pair 15↗

Visual hallucinations following treatment with vincristine.

Peripheral neuropathy is a common side effect of vincristine therapy. However, side effects due to central nervous system (CNS) toxicity following intravenous administration are rare. We report two patients who developed visual hallucinations during treatment with vincristine.

Antineoplastic Combined Chemotherapy Protocols↗