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Biomedical subjects

R Palmer

Publications and source records attributed to R Palmer.

At least 109 records · Page 6Linked to original sources
PubMed1993

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

Ten rhodopsin mutations have been found in a screen of 282 subjects with retinitis pigmentosa (RP), 76 subjects with Leber congenital amaurosis, and 3 subjects with congenital stationary night blindness. Eight of these mutations (gly51-to-ala, val104-to-ile, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, val209-to-met, and his211-to-arg) produce amino acid substitutions, one (gln64-to-ter) introduces a stop codon, and one changes a guanosine in the intron 4 consensus splice donor sequence to thymidine. Cosegregation of RP with gln64-to-ter, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, his211-to-arg, and the splice site guanosine-to-thymidine indicates that these mutations are likely to cause retinal disease. Val104-to-ile does not cosegregate and is therefore unlikely to be related to retinal disease. The relevance of gly51-to-ala and val209-to-met remains to be determined. The finding of gln64-to-ter in a family with autosomal dominant RP is in contrast to a recent report of a recessive disease phenotype associated with the rhodopsin mutation glu249-to-ter. In the present screen, all of the mutations that cosegregate with retinal disease were found among patients with RP. The mutations described here bring to 35 the total number of amino acid substitutions identified thus far in rhodopsin that are associated with RP. The distribution of the substitutions along the polypeptide chain is significantly nonrandom: 63% of the substitutions involve those 19% of amino acids that are identical among vertebrate visual pigments sequenced to date.

Alleles↗
PubMed1992

[The attitudes of primary care professionals on mental patients and psychiatric care].

AIM: To describe the views of different primary care professionals regarding mental illness, psychiatric patients and mental health care. DESIGN: Crossover survey. SITE. Primary care centres in a health zone. PARTICIPANTS: All the primary care centre professionals and social service base teams. Out of 66 possible subjects, 61 answered the questionnaire. MEASUREMENTS AND RESULTS: A questionnaire composed by ourselves about peoples' opinions was given. The chi 2 test was then used to analyse the questionnaire, both item by item and by means of the distribution of frequencies and comparisons. On some items differences between Health Professionals and social service staff occurred. But there were no differences between doctors and nursing staff, nor between men and women (level of importance: 0.50). For 91% of those surveyed, mental health is an illness like any other. 87% believe psychiatry is a science; and 77% that psychiatry is related to the rest of medicine. 48% believe that the majority of mental disturbances are untreatable. 80% affirm that psychiatric admissions should be into special hospitals. CONCLUSION: The authors highlight the need to overcome the discrepancy between positive attitudes on the theoretical side and a reluctance to integrate those attitudes into practice.

Adult↗
PubMed1992

A fully automated enzyme immunoassay for the measurement of cortisol in biological fluids.

This paper describes a fully automated assay on the Serono SR1 for the measurement of cortisol in serum, heparinised plasma and urine. The assay incorporates a specific polyclonal antibody to cortisol and cortisol conjugated to alkaline phosphatase as a label. Following immunoincubation, bound and free labelled cortisol are separated by magnetic sedimentation of the antibody complex. Phenolphthalein is liberated by the enzymatic hydrolysis of the substrate (phenolphthalein monophosphate) and the absorbance generated is measured as the assay end-point. All processing steps are performed by the SR1. The assay has good analytical performance with respect to precision (within and between run CVs less than 10 and 11.5% respectively), detection limit (less than 5 nmol/l) and recovery of added cortisol (100 +/- 10%). The assay agrees well with cortisol concentrations determined by ID-MS and by established immunoassays (r > 0.96). Reference ranges of normal urine samples (pretreated by solvent extraction) are in good agreement with accepted values. The study demonstrates that the SR1 Cortisol assay on the SR1 analyzer is suitable for the routine determination of cortisol in serum, heparinised plasma and urine samples.

Adult↗
PubMed1991

Sarcoma in Paget disease of bone: clinical, radiologic, and pathologic features in 22 cases.

The clinical, radiologic, and histologic features of 22 cases of Paget sarcoma were reviewed to determine in which patients with Paget disease these tumors are most likely to develop and what radiologic findings suggest the diagnosis. Clinical findings at presentation included pain and/or a mass (11 patients), pathologic fracture (seven), and neurologic symptoms (four). Survival time in 20 patients ranged from 5 days to 2.5 years. Two patients were lost to follow-up: one at 2 years and one at 8 years. There were 16 high-grade osteosarcomas, three chondrosarcomas, two fibrosarcomas, and one malignant fibrous histiocytoma. The most common site was the femur. Tumors also were observed in unusual sites. In one case of multifocal osteosarcoma, the tumor involved only pagetic bone. In 15 patients, Paget disease was polyostotic, clinically significant, and had been documented previously. In four patients, a sarcoma developed near the site of a fracture that had occurred between 2 months and 15 years previously. All cases showed radiologic evidence of a destructive lesion; other findings included a mass and evidence of tumor mineralization. Periosteal reaction was not observed. All but one tumor developed in a site of osteoblastic or mixed osteoblastic and lytic Paget disease. Our results suggest that sarcomas can develop in any part of any bone affected by Paget disease but are more likely to occur with advanced disease and to present with a destructive lesion without periosteal reaction.

Aged↗
PubMed1991

Alprazolam levels and response in panic disorder: preliminary results.

Fifty-five young adult patients completed a study comparing alprazolam, propranolol, and placebo in the treatment of panic disorder and agoraphobia with panic attacks. Twenty completed 5 weeks of treatment with alprazolam. No concomitant psychological treatment was administered. Plasma alprazolam levels were determined at baseline and at the end of the trial by means of automated gas chromatography. These levels were significantly correlated with dose (p = 0.001). Dividing the data into quartiles based on alprazolam concentration, no direct, linear relationship was found between alprazolam levels and response (as defined by a criterion of zero panic attacks). However, analysis of the combined middle two quartiles versus the combined upper and lower quartiles showed a positive trend toward a curvilinear relationship; i.e., there was a greater response rate within the 18-62 ng/ml concentration range than in the combined 0-17 plus 63-107 ng/ml range, (chi 2 = 2.4; p = 0.12). The findings are very preliminary in nature. It remains to be seen if the results will reach significance with a large sample size and a more tightly controlled study design.

Adolescent↗
PubMed1990

Generalized anxiety disorder: some biochemical aspects.

Fifty-one patients who met DSM-III criteria for generalized anxiety disorder, and who were recruited to participate in a drug outcome study, filled out a variety of rating scales and had blood samples drawn for plasma norepinephrine, epinephrine, and free 3-methoxy-4-hydroxyphenylglycol (MHPG) after a 20-min rest period. This group was compared to 15 normal controls who also had their blood drawn after a 20-min rest period. While the two groups were initially found to have significantly different levels of plasma free MHPG through the use of t tests, this finding was not confirmed by subsequent discriminant analysis.

Adolescent↗
PubMed1990

Expression of complement receptors CR1 and CR3 in patients with juvenile periodontitis.

The expression of two complement receptors, CR1 and CR3, was investigated in a group of 11 patients with localized juvenile periodontitis (LJP) before and after stimulation of their peripheral blood neutrophils and monocytes with a chemotactic factor. A total deficiency of CR1 or CR3 was not observed in any patient. Abnormally high or low values were seen in some individuals; however, tests repeated a few months later suggested that the abnormal expression of CR1 and CR3 were not causing the disease, but were probably the result of the inflammation and infection usually associated with untreated juvenile periodontitis.

Adolescent↗
PubMed1990

Relationship of hydroxynortriptyline to nortriptyline concentration and creatinine clearance in depressed elderly outpatients.

Plasma concentration of E-10-hydroxynortriptyline is increased in the elderly and may be related to both renal clearance of hydroxynortriptyline and rate of liver hydroxylation of nortriptyline. In 25 ambulatory, depressed elderly outpatients treated with therapeutic doses of nortriptyline, relationships among plasma levels of nortriptyline and E-10-hydroxynortriptyline, and an estimate of creatinine clearance were examined. Plasma levels of E-10-hydroxynortriptyline (corrected for varying dosage) were significantly correlated with age and inversely correlated (r = -0.50) with creatinine clearance but not with notriptyline or Z-10-hydroxynortriptyline concentration. E-10-hydroxynortriptyline concentration was about 5 1/2 times that of Z-10-hydroxynortriptyline. By best subsets multiple regression analyses, the ratio of E-10-hydroxynortriptyline to nortriptyline level was best predicted by plasma nortriptyline concentration, creatinine clearance, and age, all of which accounted for 63% of the variance. These results corroborate and extend previous findings in elderly inpatients in whom creatinine clearance was measured directly. In addition, age had an effect on E-10-hydroxynortriptyline independently of creatinine clearance. Since E-10-hydroxynortriptyline concentration has been related to both therapeutic efficacy and toxicity during nortriptyline treatment, it may be important to assess nortriptyline hydroxymetabolites in elderly patients and in those with renal insufficiency.

Aged↗
PubMed1990

Utilization patterns of frozen autologous red blood cells. Experience in a referral center and a community hospital.

The risks of homologous blood transfusion have motivated some blood centers and private industry to consider providing long-term storage of frozen, autologous red blood cells as a service. The usefulness of this practice is unknown. We performed a retrospective analysis of frozen autologous red blood cell use in two hospitals. Records were available for 21- and 9-year intervals, respectively. A total of 104 autologous units were cryopreserved for 41 patients. Fifteen (37%) of 41 patients received one or more of their stored units of red blood cells. Twenty-two patients had autologous units frozen in anticipation of elective surgery; 11 (50%) of these 22 patients received some or all of their stored units. Sixteen patients had autologous units stored because of potential transfusion problems related to rare blood types or to the presence of multiple blood cell alloantibodies, and another 3 patients had units frozen simply at their personal request. Only 4 (21%) of these latter 19 patients who donated without a specific planned use eventually received their frozen autologous red blood cells. Long-term autologous frozen red blood cell storage can improve medical management of some patients with anticipated surgical procedures or unusual requirements for transfusion. However, our study suggests that most autologous units frozen without specific planned use will not be transfused.

Blood Preservation↗
PubMed1989

Multiple tandem 18-kb sequences clustered in the region of the acute promyelocytic leukemia breakpoint on chromosome 17.

This paper describes the cloning of an 18-kb sequence present in approximately 30 copies on chromosome 17. Most of these are clustered in the region of the breakpoint associated with acute promyelocytic leukemia (APL). These copies map both above and below the breakpoint, and pulsed field gel analysis indicates that the majority of these sequences lie within a region of approximately 2 megabases. The organization of these sequences appears to be that of large imperfect palindromes.

Animals↗
PubMed1989

Comparison between continuous and intermittent infusion regimens of cimetidine in ulcer patients.

The relative effectiveness of intermittent infusions and primed continuous infusions of cimetidine in the maintenance of intragastric pH greater than or equal to 4.0 was evaluated in a double-blind crossover trial in 26 patients who had active or healed gastroduodenal ulcers. During the intermittent phase, each patient received 300 mg cimetidine intravenously every 6 hours. During the continuous infusion phase, each patient was given a continuous infusion of 37.5 mg cimetidine per hour, preceded by a priming dose of 300 mg cimetidine that was given for 15 minutes. Intragastric pH was monitored continuously. During the last 12 hours of the study, the continuous infusion regimen provided 20% more time in which the pH was more [corrected] than 4.0 with 25% less medication than did the intermittent infusion regimen.

Adolescent↗