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Biomedical subjects

K Sullivan

Publications and source records attributed to K Sullivan.

At least 91 records · Page 5Linked to original sources

Estimates of interrater reliability for the Logical Memory subtest of the Wechsler Memory Scale-Revised.

This study was undertaken to investigate the interrater reliability of the Logical Memory subtest of the Wechsler Memory Scale-Revised under two conditions. In the first condition, raters applied standard WMS-R scoring for Logical Memory to written transcripts of subjects' recall. In the second condition, raters were instructed to listen to and record subjects' responses before applying the scoring criteria. Responses from 32 undergraduate university students were scored by three independent judges with professional experience in WMS-R use. Responses were analysed to generate estimates of interrater reliability that could be compared to those provided in the WMS-R manual (Wechsler, 1987). The results provide independent confirmation that the standard scoring procedure for Logical Memory is highly reliable when applied by trained clinicians.

Adult↗

The rapid diagnosis of tinea capitis using calcofluor white.

The clinical presentation of tinea capitis may be varied and confusing. This results in delays in diagnosis, loss to follow-up, and spread of the infection. This article describes the use of calcofluor white (CFW) as a method for rapid diagnosis of tinea capitis. One hundred children with scaling scalps were evaluated. Specimens were obtained for fungal culture from each patient. Scales and hair were tested using the CFW test. The CFW test was positive in 58 (76%) of those with positive fungal cultures and 10 (42%) with negative fungal cultures. The sensitivity and specificity of the test were 76 and 58%, respectively. The relative ease and rapidity of the CFW test allows for rapid diagnosis of tinea capitis, immediate treatment of patients, and decreased loss to follow-up.

Benzenesulfonates↗

The interaction of a type A retroviral particle and class II human leukocyte antigen susceptibility genes in the pathogenesis of Graves' disease.

We have previously reported that over 85% of patients with Graves' disease have detectable serum antibodies against a human intracisternal type A retroviral particle (HIAP), which are not present in age- and gender-matched controls, suggesting a role for HIAP in triggering the autoimmune process leading to Graves' disease. To investigate the interaction of this viral particle with genetic factors, 35 members of 3 kindreds, selected because of a high family prevalence of Graves' disease (a total of 11 members affected), were examined for clinical signs of thyroid dysfunction, goiter, and opthalmopathy. Thyroid function tests and autoimmune serological profiles were also obtained. In addition, subjects were tested for the presence of antibodies against HIAP by means of immunoblot analysis of their sera, and their human leukocyte antigen (HLA) class II alleles were determined by DNA methodology. Molecular genetic analyses enabled the detection of postulated HLA susceptibility haplotypes in each family. These families had 8, 4, and 5 members, respectively, with such apparent susceptibility genes and 11, 5, and 9 members, respectively, with immunological evidence of retroviral exposure. In the presence of both factors (codetected in a total of 15 members of the 3 kindreds), the incidence of Graves' disease was 100%, 67%, and 80%, respectively. One additional member of family B and 3 in family C with both viral and genetic susceptibility factors were found to have serological abnormalities and/or goiter and ocular signs consistent with evolving or preclinical Graves' disease. In families A and C, tight linkage between HLA haplotypes and Graves' disease was demonstrated in a manner consistent with recessive inheritance. The association between the occurrence of both anti-HIAP-I antibody positivity and HLA susceptibility and the presence of Graves' disease was highly significant (P < 0.001). The pathogenesis of Graves' disease in these families appears to be attributable to the interaction between the immune response to an intracisternal type A retroviral particle and immunogenetic susceptibility, leading to the autoimmune processes that underlie Graves' disease, with subsequent development of the characteristic features of the illness. Data from these families suggest that both of these factors are necessary for final disease expression. These results imply that serological evidence of retroviral exposure together with genetic HLA susceptibility are the two major predisposing factors underlying the pathogenesis of Graves' disease. Further studies will establish whether prospective identification of persons at risk for Graves' disease is possible by this means.

Adult↗

Radioimmunoscintigraphy in patients with early stage cutaneous malignant melanoma.

UNLABELLED: CT and MRI examinations remain relatively insensitive for the detection of metastatic melanoma lesions, especially those of regional lymph nodes. Imaging cutaneous malignant melanoma patients with the Fab fragment of monoclonal antibody (MAb) NR-ML-05 labeled with 99mTc has been reported to increase the accuracy of staging. Our purpose in this study was to assess the sensitivity of 99mTc-labeled NR-ML-05 in detecting the spread of melanoma. METHODS: Twenty-six adult cutaneous malignant melanoma patients were enrolled in this study and were followed for 6 to 60 mo after radioimmunoscintigraphy. At the time of imaging, 20 patients had their primary lesions resected, whereas the remaining 6 patients had their primary lesions intact. RESULTS: Radioimmunoscintigraphy correctly detected 8 of 18 suspicious lesions as malignant, as well as 4 additional malignant lesions which had not been suspected previously. Radioimmunoscintigraphy also correctly identified 8 of the 18 suspicious lesions as benign. Two of the 18 suspicious lesions were found to be false negatives. The overall lesion sensitivity of radioimmunoscintigraphy was 86%. CONCLUSION: Twenty-four of the 26 patients were correctly staged by radioimmunoscintigraphy. The accuracy of staging of cutaneous malignant melanoma patients by clinical and or radiologic examinations (73%) was greatly improved with the use of radioimmunoscintigraphy (93%). These results suggest that radioimmunoscintigraphy may be a clinically useful adjunct to the current armamentarium for guidance of medical, and particularly surgical, therapy of cutaneous malignant melanoma patients.

Adult↗

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

We report on a family with autosomal dominant paternally inherited "Opitz" GBBB syndrome and an additional case with findings which have been reported in that syndrome. In each case the propositus presented with a vascular ring. Since a vascular ring may be a sign of a 22q11.2 deletion [Zacki et al., 1995], FISH (fluorescence in situ hybridization) studies were performed. These studies demonstrated a 22q11.2 deletion in the 3 affected individuals. Review of Opitz GBBB syndrome and the 22q11.2 microdeletion syndrome demonstrates significant overlap of manifestations including both facial characteristics and structural anomalies. Based on the phenotypic overlap and the presence of a 22q11.2 deletion in our patients with Opitz GBBB syndrome and the presence of a deletion in a patient with lung hypoplasia, absent pulmonary artery, and long segment tracheomalacia, we propose that, in some cases, the Opitz GBBB syndrome may be due to a 22q11.2 deletion. This enlarges the list of "syndromes" associated with the 22q11.2 deletion, which presently includes most patients with DiGeorge, velocardiofacial, and conotruncal anomaly face syndrome.

Abnormalities, Multiple↗

Breastfeeding.

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Breast Feeding↗

beta-Tubulin mutation suppresses microtubule dynamics in vitro and slows mitosis in vivo.

Microtubule (MT) dynamics vary both spatially and temporally within cells and are thought to be important for proper MT cellular function. Because MT dynamics appear to be closely tied to the guanosine triphosphatase (GTPase) activity of beta-tubulin subunits, we examined the importance of MT dynamics in the budding yeast S. cerevisiae by introducing a T107K point mutation into a region of the single beta-tubulin gene, TUB2, known to affect the assembly-dependent GTPase activity of MTs in vitro. Analysis of MT dynamic behavior by video-enhanced differential interference contrast microscopy, revealed that T107K subunits slowed both the growth rates and catastrophic disassembly rates of individual MTs in vitro. In haploid cells tub2-T107K is lethal; but in tub2-T107K/tub2-590 heterozygotes the mutation is viable, dominant, and slows cell-cycle progression through mitosis, without causing wholesale disruption of cellular MTs. The correlation between the slower growing and shortening rates of MTs in vitro, and the slower mitosis in vivo suggests that MT dynamics are important in budding yeast and may regulate the rate of nuclear movement and segregation. The slower mitosis in mutant cells did not result in premature cytokinesis and cell death, further suggesting that cell-cycle control mechanisms "sense" the mitotic slowdown, possibly by monitoring MT dynamics directly.

Base Sequence↗

Mortality study of construction workers in the UK.

BACKGROUND: Construction is one of the most dangerous industries in the world. However, there has been little literature on occupational epidemiology in this field. A study of the mortality experience over a 13-year period among construction workers in the UK was carried out. METHOD: This was based on 15,007 death certificates of members of the Building and Civil Engineering Holiday and Benefit Scheme, who had died during 1975 to 1987 aged 20-64 years. Proportional mortality ratio (PMR) and mortality odds ratio techniques were used. RESULTS: Significantly elevated PMR were found for deaths from all cancers, including cancer of the lung and stomach, and for accidental deaths. Associations were demonstrated between several job categories and an increased risk of cancer mortality. Occupational exposures to hazardous substances may have contributed to the elevated cancer mortality, although the study findings should be interpreted with caution. Inadequate supervision of safety procedures, together with a high proportion of young and inexperienced workers, may be associated with the high number of accidental deaths. CONCLUSIONS: The results support the hypothesis that working in the construction industry is associated with a high risk for accidental death and probably also for malignant diseases including lung, mesothelium and stomach cancers. Further epidemiological studies among construction workers are needed to support policies aimed at improving occupational health, including the prevention of accidents.

Accidents, Occupational↗

Congestive heart failure: differential adaptation of the diaphragm and latissimus dorsi.

Diaphragm and latissimus dorsi muscle functions, histochemistries, and morphometries were studied in anesthetized male Yucatan minipigs with congestive heart failure (CHF) induced by supraventricular tachycardia (n = 5). Sham-operated animals served as a control group (n = 5). In CHF animals, transdiaphragmatic pressure measured during supramaximal phrenic stimulation was reduced by 40% at low frequencies (< or = 20 Hz) and by 60% at higher frequencies. Twitch amplitude and half-relaxation time were also decreased. The cross-sectional areas of type I, IIa, and IIb fibers were reduced in the diaphragm. The proportion of type I fibers increased, whereas type IIa fibers decreased. Succinate dehydrogenase activity was elevated in type IIa and IIb fibers, but diaphragmatic fatigability was not altered. CHF reduced latissimus dorsi isometric force by 40% for stimulation frequencies > or = 30 Hz. The cross-sectional area of latissimus dorsi type IIb fibers was decreased, but twitch characteristics, fiber type composition, succinate dehydrogenase activity, and fatigability were unchanged. Experimental CHF appears to cause greater intrinsic adaptive changes in the diaphragm compared with those in the latissimus dorsi in the minipig. For both muscles, reduced contractile function was associated with atrophy. Impaired performance of the diaphragm may also be attributed to an increase in the relative contribution of type I fibers to the total tension-generating capacity of the muscle and to the pathophysiological mechanisms underlying the shortened relaxation time of the twitch response.

Adaptation, Physiological↗

Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells.

Sex and cystic fibrosis status have been previously diagnosed separately at the single cell level. We have developed a sensitive, reliable, accurate and rapid (within 5-6 h) system for the simultaneous diagnosis of sex, cystic fibrosis and a DNA 'fingerprint' within a single reaction from a variety of single cells. As contamination cannot be totally excluded, particularly at the single cell level, DNA 'fingerprinting' can be used to assess the risk of contamination. High sensitivity with single cells is combined with very high specificity (estimated matching probability of 10(-7)-10(-8)), allowing the source of the amplified cell to be identified with a very high degree of probability. Fluorescent primers were multiplexed for six tetranucleotide microsatellite sequences to determine the DNA fingerprint; the amelogenin gene was used to diagnose sex, and primers for the CFTR region were used to determine cystic fibrosis (CF) status. Analysis of the fluorescent product was undertaken using an automated DNA sequencer with Genescan software. This technique has many applications such as prenatal and preimplantation diagnosis, forensic identification of small or degraded samples, and detection of contamination sources. DNA fingerprints of single haploid spermatozoa and other cells can be assessed, so ensuring the detection of both diploid and haploid contamination during preimplantation diagnosis.

Cystic Fibrosis↗

Identification of protein-tyrosine phosphatases prevalent in adipocytes by molecular cloning.

Protein-tyrosine phosphatases (PTPases) are among the fastest growing family of enzymes that are closely linked to signal transduction pathways involving reversible tyrosine phosphorylation. In order to identify PTPase homologs expressed in adipocytes that might regulate the action of insulin or growth factors in this tissue, we screened a rat adipocyte cDNA library at reduced stringency with a panel of candidate PTPase probes. After subcloning and sequence analysis of the positive plaques, this approach enabled us to identify the expression of LRP/RPTP-alpha, PTPase 1B, SH-PTP2/Syp, and LAR in adipocytes at an abundance of 16, 7, 6 and 3 per million, respectively. Furthermore, a sequence variant of SH-PTP2/Syp was identified that may have significance in the tissue-specific activity of this enzyme. These data provide insight into PTPase homologs that may have a physiological role in the regulation of phosphotyrosyl turnover in hormone signalling pathways in adipocytes.

Adipocytes↗

A second look at second-order belief attribution in autism.

Compared the performance of autistic and mentally retarded subjects, all of whom had passed a standard first-order test of false belief, on a new second-order belief task. 12 autistic and 12 mentally retarded subjects, matched on verbal mental age (assessed by PPVT and a sentence comprehension subtest of the CELF) and full-scale IQ were given two trials of a second-order reasoning task which was significantly shorter and less complex than the standard task used in all previous research. The majority of subjects in both groups passed the new task, and were able to give appropriate justifications to their responses. No group differences were found in performance on the control or test questions. Findings are interpreted as evidence for the role of information processing factors rather than conceptual factors in performance on higher order theory of mind tasks.

Adolescent↗

Resistance to positional noise scales with target size.

The ability to judge the separation between two target lines deteriorates as the base separation increases. Several lines of evidence suggest that this may be due to larger base separations being processed by mechanisms that cover larger areas and which have a greater associated positional uncertainty as a consequence. Separation discrimination was measured as a function of base separation with randomly jittering targets. As predicted from the above models the resistance to positional noise increased in proportion to base separation of the targets. The data is incompatible with the suggestion that resistance to positional noise declines when the extent of the noise exceeds fixational instability.

Discrimination, Psychological↗

Identification of the remains of the Romanov family by DNA analysis.

Nine skeletons found in a shallow grave in Ekaterinburg, Russia, in July 1991, were tentatively identified by Russian forensic authorities as the remains of the last Tsar, Tsarina, three of their five children, the Royal Physician and three servants. We have performed DNA based sex testing and short tandem repeat (STR) analysis and confirm that a family group was present in the grave. Analysis of mitochondrial (mt) DNA reveals an exact sequence match between the putative Tsarina and the three children with a living maternal relative. Amplified mtDNA extracted from the remains of the putative Tsar has been cloned to demonstrate heteroplasmy at a single base within the mtDNA control region. One of these sequences matches two living maternal relatives of the Tsar. We conclude that the DNA evidence supports the hypothesis that the remains are those of the Romanov family.

Base Sequence↗

Predicting and explaining behavior: a comparison of autistic, mentally retarded and normal children.

The relationship between performance on a false belief task and a new task designed to elicit explanations of human action was examined in two experiments. In the first study normal preschoolers' performance on both tasks was significantly correlated. The second experiment included matched groups of autistic, mentally retarded, and older normal children. The autistic subjects were significantly worse than controls at offering mentalistic explanations. Performance on the false belief and the explanation of action tasks was highly correlated for the autistic subjects. These findings are discussed in terms of the relationships between language and theory of mind.

Autistic Disorder↗