Search PubMed⌕ Search

Biomedical subjects

H Walker

Publications and source records attributed to H Walker.

At least 55 records · Page 3Linked to original sources

Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization.

Duplication of the short arm of chromosome 5 [dup(5)(p13.1p15.3)] has been associated with craniofacial malformations, cardiac defects, renal and intestinal malformations, limb abnormalities, and mental retardation. We report a 2-year-old white girl with a de novo 46,XX,inv dup(5)(p14p15.3) chromosome constitution, who presented with motor and language delays, bilateral strabismus, small posteriorly angulated ears, a high-arched palate, mild hypotonia, and an atrial septal defect. A CT scan of the head was normal. In situ hybridization with a cosmid probe specific for sub-band 5p15.3 (Oncor, Inc., Gaithersburg, MD) was used to identify the origin and orientation of the extra material. The milder manifestations in our patient are consistent with the hypothesis that significant phenotypic effects are associated with duplication of material proximal to band 5p14. This study demonstrates the usefulness of in situ probes in identifying the origin and orientation of duplicated genetic material.

Child, Preschool↗

Life-threatening thrombotic and haemorrhagic problems associated with silent myeloproliferative disorders.

Myeloproliferative disorders are well recognized as being associated with haemorrhage and thrombosis. We describe two cases, one of life-threatening haemorrhage and the other of thrombosis, in patients with normal peripheral blood counts and films, both of whom went on to develop overt manifestations of myeloproliferative disorders (CGL and essential thrombocythaemia) more than a year after their first presentation.

Adult↗

Comparison of an EBV transformed cell line and an EBV hybridoma cell line producing the same human anti-HBs monoclonal antibody.

A stable human-mouse heterohybridoma secreting human anti-HBs monoclonal antibody in continuous culture for 12 months was generated. It grew faster than the parent EBV transformed lymphoblastoid cell line (LCL) but produced the same level of specific antibody. The LCL was positive for the Epstein-Barr Virus Nuclear Antigen (EBNA), human CD 23 and contained a diploid number of human chromosomes. The heterohybridoma was negative for EBNA, CD 23 and mouse Ly-1 mouse, despite retaining a full complement of diploid mouse chromosomes and a limited number of human chromosomes.

Animals↗

Case report 651: Thrombosed, leaking popliteal aneurysm.

A thrombosed, leaking aneurysm of the popliteal artery, mimicking a soft tissue sarcoma both clinically and by MRI examination, is described. It may be difficult to separate a leaking, thrombosed aneurysm from an inflammatory response secondary to a sarcoma with intralesional hemorrhage. An aneurysm should, however, be considered in the differential diagnosis if the mass is present in a well-recognized location for aneurysm and is associated with vascular engulfment and signs of subacute or chronic hemorrhage.

Aneurysm↗

Congenital spherocytosis, B19 parvovirus infection and inherited interstitial deletion of the short arm of chromosome 8.

We report two siblings with congenital spherocytosis, multiple phenotypic abnormalities and an inherited interstitial deletion of the short arm of chromosome 8 (8p). The propositus came to our attention with acute bone marrow hypoplasia secondary to B19 parvovirus infection. The bone marrow trephine biopsy appearances of intranuclear eosinophilic degeneration in the erythroblasts may be pathognomonic of B19 parvovirus induced acute bone marrow aplasia. The presence of B19 parvovirus DNA was demonstrated in erythroblasts by in situ hybridization. Chromosome analysis of peripheral blood lymphocytes from both siblings showed an interstitial deletion of the short arm of chromosome 8, del (8) (p11p21). This abnormal chromosome was inherited from their mother, who showed this deletion as well as a small fragment representing the deleted 8p chromosome portion, del (8) (p11p21), +f. Centromeric material from chromosome 8 was detected in this chromosome fragment by in situ hybridization using an alpha satellite probe (pJM 128), but not by C banding. Chromosome analysis of skin fibroblasts from the mother and a third sibling with a similar karyotype showed the deleted fragment in over 80% of cells. Cells in which the fragment was absent exhibited the deleted 8p, suggesting there was no mosaicism. The mother and the third sibling were phenotypically normal without spherocytosis. A fourth sibling and the father were normal. The chromosome abnormality was not observed in five of the mother's siblings, suggesting that it arose de novo in the mother. Our findings strongly support a locus for congenital spherocytosis on the short arm of chromosome 8. The frequency of defects at this locus is unknown.

Adolescent↗

Perioperative and long-term prognostic value of intravenous dipyridamole thallium scintigraphy in patients with peripheral vascular disease.

The prognostic value of long-term risk stratification of patients with peripheral vascular disease who undergo intravenous dipyridamole thallium scintigraphy has not been well studied. We screened 131 patients with peripheral vascular disease who underwent intravenous dipyridamole thallium testing to determine cardiac event rates over an average follow-up of 18 +/- 10 months. Of the 131 patients, 111 subsequently had peripheral vascular surgery. The patients with abnormal thallium scans after dipyridamole had a significantly higher risk of death or myocardial infarction, both in the perioperative phase (7% versus 0%; p less than 0.001) and at late follow-up (17% versus 6%; p less than 0.01). The risk of a cardiac event was two-fold greater when a reversible as compared to a fixed thallium defect was present. Multivariate analysis selected the number of thallium segments with perfusion defects, prior history of angina pectoris, and chest pain during dipyridamole testing as perioperative predictors of a cardiac event. A reversible thallium defect was the only predictor of death or nonfatal myocardial infarction during late follow-up. Thus intravenous dipyridamole thallium scintigraphy is a useful noninvasive test for risk stratification of patients before peripheral vascular surgery and provides prognostic information as to the risk of a cardiac event in the 2-year period after the test. A reversible thallium defect is associated with a significant increased risk and would indicate that coronary angiography should be considered and preoperative coronary revascularization.

Aged↗

Careers convention.

Explore the source record for details and available documents.

Educational Measurement↗

Granulocytic sarcoma of the small intestine preceding acute myelomonocytic leukemia with abnormal eosinophils and inv(16).

We report a case of preleukemic granulocytic sarcoma of the small intestine preceding the development of acute myelomonocytic leukemia with abnormal eosinophils and inversion of chromosome 16, inv(16)(p13q22). A literature review suggests that this is a recurring cytogenetic-clinicopathologic association and carries a favorable prognosis, especially if treated aggressively with antileukemic therapy at the time of diagnosis.

Chromosome Inversion↗

Centroid evaluation in the vernier alignment of random dot clusters.

Clusters of random dots have an advantage over the line elements of a typical vernier acuity task in that their internal light distributions may be easily manipulated without affecting the location of their boundaries. The ability of observers to detect the vertical misalignment of two clusters of random dots was measured over a range of cluster sizes and number of constituent dots. Provided the resultant dot density is high enough to allow interpolation to occur, results demonstrate that the task is performed by analysing the centroid (centre of gravity) of the clusters along the direction of their offset.

Form Perception↗

Implementing an integrated clinical information system.

The authors examine the vital role nursing professionals have played in the successful implementation of a sophisticated computer system at a regional medical center in the midwest. From preselection analysis through training and implementation, nurses have assumed primary responsibility for managing the multifaceted adaptation and installation of a comprehensive array of patient care functions. This experience can serve as an invaluable example of the relationship between information management, patient management, cost management, and quality enhancement in the hospital setting.

Computer Systems↗