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Biomedical subjects

K Harrison

Publications and source records attributed to K Harrison.

At least 37 records · Page 2Linked to original sources

Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase fish.

Tetrasomy 12p (Pallister-Killian syndrome) is a mosaic aneuploidy syndrome in which the isochromosome is present in amniocytes with a much greater percentage than fetal lymphocytes. Two new cases identified by prenatal diagnosis are reported. Indications for prenatal diagnosis were advanced maternal age and fetal anomalies. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. Recognition of congenital malformation patterns prenatally may allow appropriate selection of tissue for chromosome analysis. Molecular cytogenetic analysis using fluorescence in situ hybridization was used retrospectively to confirm the presence of the isochromosome 12p in various formalin-fixed fetal tissues. The levels of mosaicism detected in fetal and placental tissues were lower than those detected prenatally.

Abnormalities, Multiple

Analysis of the chromosomal distribution of transposon-carrying T-DNAs in tomato using the inverse polymerase chain reaction.

We are developing a system for isolating tomato genes by transposon mutagenesis. In maize and tobacco, the transposon Activator (Ac) transposes preferentially to genetically linked sites. To identify transposons linked to various target genes, we have determined the RFLP map locations of Ac- and Dissociation (Ds)-carrying T-DNAs in a number of transformants. T-DNA flanking sequences were isolated using the inverse polymerase chain reaction (IPCR) and located on the RFLP map of tomato. The authenticity of IPCR reaction products was tested by several criteria including nested primer amplification, DNA sequence analysis and PCR amplification of the corresponding insertion target sequences. We report the RFLP map locations of 37 transposon-carrying T-DNAs. We also report the map locations of nine transposed Ds elements. T-DNAs were identified on all chromosomes except chromosome 6. Our data revealed no apparent chromosomal preference for T-DNA integration events. Lines carrying transposons at known map locations have been established which should prove a useful resource for isolating tomato genes by transposon mutagenesis.

Base Sequence

Astrocytoma with a unique telomere association.

Many primary pediatric brain tumors are characterized by nonrandom cytogenetic abnormalities involving specific structural rearrangements and loss or gain of specific chromosomes. We describe a low-grade cerebellar astrocytoma with telomeric association of chromosomes 18 and 21 in a 7-year old girl. The nonrandom telomeric association of these chromosomes represents a unique cytogenetic finding in this type of pediatric brain tumor.

Astrocytoma

Effects of sentence form on the construction of mental plans from procedural discourse.

Memory for procedural discourse was examined in two experiments. In Experiment 1, memory was assessed using recall; in Experiment 2, a recognition test was used. In both experiments, the memorability of three types of action statements were compared: a transitive verb form, in which the action was described by a main clause; a verbal adjective form, in which the action was indicated by an adjective derived from a verb; and an implicit action form, in which the action was only implied. Information associated with transitive verbs and verbal adjectives was more likely to be recalled than information associated with implicit actions. Although a manipulation of prior knowledge affected overall recall performance, it did not interact with sentence form. In addition, recognition accuracy was affected by neither sentence form nor prior knowledge. To account for these results, it was proposed that transitive verbs and verbal adjectives generate a semantic representation that includes features of the action, whereas implicit actions do not. This difference in semantic representation leads to structural differences in a mental plan for the task. The obtained effects on recall reflect these differences in plan structure.

Adult

A genetic analysis of DNA sequence requirements for Dissociation state I activity in tobacco.

Our objective was to test whether the double Ds structure correlated with Dissociation state I activity (i.e., high frequency of chromosome breakage and low frequency of reversion) in maize exhibited similar properties in tobacco. A genetic assay was established to test double Ds and related structures for their ability to cause loss of the linked marker genes streptomycin phosphotransferase and beta-glucuronidase in transgenic tobacco. An engineered double Ds element and a simple Ds element showed behavior consistent with that of state I and state II Ds elements, respectively, as described for maize. DNA structural rearrangements accompanied marker gene loss. Dissection of the double Ds structure showed that a left end and a right end of Ds in direct orientation were sufficient for the instability observed. This result suggested that left and right ends of Ds in direct orientation can participate in aberrant transposition events, consistent with two different models for double Ds-induced chromosome breakage proposed previously. Both models predict that the inversion of a half Ds element accompanies the aberrant transposition event. Such an inversion was detected by polymerase chain reaction experiments in tobacco and maize only when Activator activity was present in the genome.

Base Sequence

Postoperative vomiting factors in IVF patients.

Postoperative vomiting patterns were documented in 504 patients having general anaesthesia for oocyte retrieval for in vitro fertilization or related procedures and compared with patient preoperative history and expectations, response to ovarian hyperstimulation, and details of the anaesthesia. The results showed that the likelihood of vomiting was related to peak plasma oestradiol level and the patient's expectation based on previous experience of anaesthesia.

Anesthesia, General

Analysis of a genomic DNA region from the cyanobacterium Synechococcus sp. strain PCC7942 involved in carboxysome assembly and function.

We report on the sequencing and analysis of a 3,557-bp genomic DNA clone that is located between 4.8 and 1.2 kilobase pairs (kb) upstream of the rbcL gene and is capable of complementing a class of cyanobacterium Synechococcus sp. strain PCC7942 mutants requiring a high level of CO2. The upstream 2,704 bp of this sequence is novel, the remaining 852 bp having been reported by other workers. Four new open reading frames (ORFs) have been identified along with putative promoter elements. These ORFs, which could code for proteins of 7, 10.9, 11, and 58 kDa in size, have been named ORF 64, ccmK, ccmL, and ccmM, respectively. The last three have been named ccm genes on the basis that insertional mutagenesis of each produces a phenotype requiring a high level of CO2 (i.e., each produces a lesion in the CO2 concentrating mechanism). The putative gene product for the large ccmM ORF has three internally repeated regions and also has two possible DNA binding motifs. Two defined mutants in the 3,557-bp region, mutants PVU and P-N, have been more fully characterized. The PVU mutant has a drug marker inserted into the ccmL gene, and it possesses abnormal rod-shaped carboxysomes. The P-N mutant is a 2.64-kb deletion of DNA from the same position in ccmL to a region closer to rbcL. This mutant, which has previously been shown to lack carboxysomes and have soluble ribulosebiphosphate carboxylase/oxygenase activity, has now been shown to have a predominantly soluble carboxysomal carbonic anhydrase activity. Both mutants were found to possess carboxysomal carbonic anhydrase activities which are below wild-type levels, and in the P-N mutant this activity appears to be unstable. The results are discussed in terms of the possible interactions of putative ccm gene products in the process of carboxysome assembly and function.

Amino Acid Sequence

Cell cycle regulation of the yeast Cdc7 protein kinase by association with the Dbf4 protein.

Yeast Cdc7 protein kinase and Dbf4 protein are both required for the initiation of DNA replication at the G1/S phase boundary of the mitotic cell cycle. Cdc7 kinase function is stage-specific in the cell cycle, but total Cdc7 protein levels remained unchanged. Therefore, regulation of Cdc7 function appears to be the result of posttranslational modification. In this study, we have attempted to elucidate the mechanism responsible for achieving this specific execution point of Cdc7. Cdc7 kinase activity was shown to be maximal at the G1/S boundary by using either cultures synchronized with alpha factor or Cdc- mutants or with inhibitors of DNA synthesis or mitosis. Therefore, Cdc7 kinase is regulated by a posttranslational mechanism that ensures maximal Cdc7 activity at the G1/S boundary, which is consistent with Cdc7 function in the cell cycle. This cell cycle-dependent regulation could be the result of association with the Dbf4 protein. In this study, the Dbf4 protein was shown to be required for Cdc7 kinase activity in that Cdc7 kinase activity is thermolabile in vitro when extracts prepared from a temperature-sensitive dbf4 mutant grown under permissive conditions are used. In vitro reconstitution assays, in addition to employment of the two-hybrid system for protein-protein interactions, have demonstrated that the Cdc7 and Dbf4 proteins interact both in vitro and in vivo. A suppressor mutation, bob1-1, which can bypass deletion mutations in both cdc7 and dbf4 was isolated. However, the bob1-1 mutation cannot bypass all events in G1 phase because it fails to suppress temperature-sensitive cdc4 or cdc28 mutations. This indicates that the Cdc7 and Dbf4 proteins act at a common point in the cell cycle. Therefore, because of the common point of function for the two proteins and the fact that the Dbf4 protein is essential for Cdc7 function, we propose that Dbf4 may represent a cyclin-like molecule specific for the activation of Cdc7 kinase.

Cell Cycle

The influence of terfenadine and pseudo-ephedrine alone and in combination on allergen-induced rhinitis.

Nasal biopsies to naturally occurring allergic rhinitis demonstrate ultrastructural evidence of mast cell degranulation. Consistent with this, H1 antihistamines are clinically efficacious in this disorder. The nasal symptoms of itch, sneeze and discharge are, however, more susceptible to this mode of therapy than is nasal blockage. As nasal blockage is vascular, the combination of an H1 antihistamine and a decongestant has a logical rationale. To investigate the efficacy of such a combination, the influence of pretreatment with terfenadine, 60 mg, pseudo-ephedrine, 120 mg, Seldane-d (a registered trademark of Marion Merrell Dow)--a combination of pseudo-ephedrine, 120 mg, and terfenadine, 60 mg,--and matched placebo was objectively investigated on the nasal response to allergen in grass-pollen-sensitive seasonal rhinitic subjects (7 males, 7 females, age 19-56 years) in a double-blind, placebo-controlled, 4-period cross-over study. Seldane-D was significantly better than placebo in all efficacy measurements: nasal itch (p < 0.02), sneezing (p < 0.01), discharge (p < 0.01) and blockage (p < 0.003). The terfenadine component of Seldane-D contributed predominantly to the reduction in itch, sneeze and discharge (p < 0.01) while the pseudo-ephedrine component primarily contributed to the nasal airway effects (p < 0.04). These results indicate that the combination of terfenadine and pseudo-ephedrine as a single oral medication is complementary.

Adult

Subtypes of self-injurious patients with borderline personality disorder.

Twenty-seven female inpatients with borderline personality disorder were assigned to two groups on the basis of whether they did (N = 14) or did not (N = 13) report experiencing pain during self-injurious episodes. Ratings of depression, anxiety, impulsiveness, dissociation, and trauma symptoms were higher in the women who did not experience pain while injuring themselves, as were the number of suicide attempts and the prevalence of childhood sexual abuse.

Adolescent

The application of a rapid D-dimer test in suspected pulmonary embolus.

A prospective, consecutive series of plasma D-dimer (D-D) using a rapid, sensitive, and semiquantitative latex agglutination test from 169 patients clinically suspected of having acute pulmonary embolus (PE) was performed to determine its clinical utility in acute PE. All patients had ventilation/perfusion (V/Q) scans and 20 patients (12%) subsequently had pulmonary arteriography (PAG). The 20 patients who subsequently had PAG were used to establish the predictive value(s). In 10 patients with normal D-D results, none had PE according to PAG. In 10 patients with abnormal D-D results, seven showed PE by PAG and three did not show PE by PAG. The sensitivity, specificity, positive predictive values, and negative predictive values of the plasma D-D tests for acute PE based on PAG were 1.00, 0.77, 0.70, and 1.00, respectively. In nine patients with indeterminate V/Q scans who had PAG, four had PE and the D-D result was abnormal. Five of these patients did not have PE and the D-D result was abnormal in three and normal in two. Seventeen patients had high-probability V/Q scans, all of whom had abnormal D-D results. Only one had PAG that showed PE in this group. A normal D-D result using a rapid latex agglutination method can effectively exclude the diagnosis of acute PE. The negative predictive value of the rapid latex agglutination method is as good as the more cumbersome enzyme-linked immunosorbent assay methods. An abnormal result is nonspecific and is not useful in the diagnosis of acute PE. While some "false positives" did occur, there were no false-negative results. The best use of the D-D test is in the examination of the patient with indeterminate V/Q studies. We conclude that the D-D test can rapidly provide information in determining whether a patient needs further angiographic studies.

Blood Coagulation Tests

Pain perception in self-injurious patients with borderline personality disorder.

Pain ratings during the cold pressor test were significantly lower in female inpatients with borderline personality disorder who report that they do not experience pain during self-injury (BPD-NP group, n = 11), compared with similar patients who report that they do experience pain during self-injury (BPD-P group, n = 11), and normal female subjects (n = 6). Pain ratings were not significantly different in the BPD-P and normal control groups. Self-report ratings of depression, anger, anxiety, and confusion were significantly lower, and ratings of vigor significantly higher following the cold pressor test in the BPD-NP group, but not in the BPD-P group. Only anxiety was significantly lower in the normal control group following the cold pressor test. The implications and limitations of these preliminary findings are discussed.

Adolescent

Factors affecting the separation and loading capacity of proteins in preparative gradient elution high-performance liquid chromatography.

The optimum conditions for the purification of proteins by gradient elution in reversed-phase liquid chromatography were studied, with emphasis on the column length. Because of the strong dependence of the retention of proteins on the mobile phase composition, very short columns can be used successfully to perform analytical separations. A similar conclusion is extended to preparative separations. Columns with different lengths and diameters were used. The dependence of the loading capacity for touching band separation on the column length, diameter and volume was studied, in addition to the regeneration time between successive runs, the starting mobile phase composition and the necessary column efficiency.

Animals