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Biomedical subjects

A Kearney

Publications and source records attributed to A Kearney.

11 recordsLinked to original sources
PubMed1998

Long-term outcome of autoimmune disease following allogeneic bone marrow transplantation.

OBJECTIVE: To investigate the long-term outcome of autoimmune disease following allogeneic bone marrow transplantation (BMT), and its relationship to hemopoietic chimerism. METHODS: Three previously described patients with rheumatoid arthritis (RA) who underwent allogeneic BMT for therapy-related severe aplastic anemia and 1 new patient with psoriasis who received BMT for chronic myeloid leukemia (CML) were followed up. Molecular studies were performed to assess hemopoietic and immune reconstitution in 3 cases. RESULTS: In 2 of the RA patients, the RA remained in remission without treatment, with nonprogressive disease, 11 and 13 years after BMT. The third patient with RA had a relapse 2 years after BMT, although the previously aggressive disease subsequently ran an attenuated course with treatment-free remission for the last 11 years. Comparison with other cases of RA suggests that graft-versus-host disease may influence the long-term outcome, perhaps through ongoing inhibition of the immune system. In the patient with psoriasis, BMT was followed by remission, but the psoriatic rash recurred and arthropathy developed 12 months later. The psoriasis and arthropathy remained active 4.5 years post-BMT, although the CML remained in remission. Molecular studies in the 2 patients whose RA remained in continued remission and in the patient with psoriasis that relapsed confirmed complete donor hemopoietic reconstitution. CONCLUSION: Long-term followup of autoimmune disease after allogeneic transplantation confirmed cure of the autoimmune disease in some, but eventual relapse in others. The occurrence of relapse despite complete donor hemopoietic reconstitution is evidence for the development of de novo, as opposed to persistent, disease, and is possibly related to intrinsic susceptibility of the transplanted stem cells or to host factors. There may be a relationship between remission of autoimmune disease and graft-versus-host reaction. These findings have relevance for the evolving application of stem cell transplantation as a therapy for autoimmune diseases.

Adult↗
PubMed1994

Risk factors associated with periodontal breakdown.

It is the intention of the authors to review previous reports of risk indicators for periodontal disease and correlate them according to their usefulness in the clinical arena. Cross-sectional as well as longitudinal studies have indicated possible risk factors associated with periodontal disease. A single aetiological factor cannot predict progression, but rather a multifactorial aetiology is needed for a prognosticatory diagnosis. Many contributing factors are noted. Age, smoking, diabetes, neutropenia, Down's syndrome, and the number of remaining teeth are some of those considered to be of influence. Acquired immune deficiency syndrome, race, socio-economic factors, frequency of dental visits, and previous attachment loss are host factors associated with periodontal disease. The purpose of this investigation is to review all possible risk factors in order to guide the clinician in determining which patients need conservative treatment or aggressive surgical therapy.

Humans↗
PubMed1993

Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.

A large novel deletional beta zero thalassaemia mutation associated with unusually high levels of haemoglobin (Hb) A2 in heterozygotes is described in two unrelated subjects of Filipino background. The deletion was characterised by DNA mapping including pulsed field gel electrophoresis. Filipino beta zero thalassaemia extends for approximately 45 kb beginning approximately 1.5 kb 3' to the delta globin gene. It is the largest deletion to date which gives rise to the beta zero thalassaemia phenotype. This mutation, similar to previously described deletional beta zero thalassaemias associated with high Hb A2, removes sequences 5' to the beta globin gene promoter and emphasises the functional importance of the 5' beta globin region in eliciting the unusually high level of Hb A2. This example also suggests that it is the 3' sequences which are transposed rather than the actual deletion size which are significant in the raised fetal haemoglobin (Hb F) found with some of the thalassaemias.

Adult↗
PubMed1991

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.

Interstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo.

Blotting, Southern↗
PubMed1990

Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.

The DNA deletion associated with an example of (epsilon gamma delta beta)zero thalassemia (Scottish-Irish type) was characterized. The deletion is approximately 205 kb in length and involves the epsilon, G gamma, A gamma, delta, and beta globin genes. The breakpoint is located 263 bp 3' to exon 3 of the beta globin gene. An LI (KpnI) repeat element approximately 320 bp in size is found at the 3' end of the novel DNA sequence. Different clinical phenotypes for three heterozygous neonates suggest that the deletion alone does not predict severity of (epsilon gamma delta beta)zero thalassemia at this age.

Adolescent↗
PubMed1990

Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

The rare association of alpha thalassaemia and mental retardation has been described previously. Molecular studies of the alpha globin cluster in these cases have been heterogeneous, with some patients having large deletions while in others the alpha globin complex appears to be intact (non-deletional). The non-deletional cases form a distinct group whose features include severe mental retardation, haematological changes of haemoglobin H (Hb H) disease, developmental defects, and unusual patterns of inheritance. To date, five cases have been described with non-deletional alpha thalassaemia-mental retardation. We present here a further example of a young male of Northern European origin who appears to have the non-deletional form of the disease. Clinical features included severe mental retardation, Hb H disease, and developmental defects similar to those reported previously. DNA mapping, including pulsed field electrophoresis, showed no evidence of deletions within the alpha globin cluster. Karyotypic analysis indicated an increase in random breakage, which has been observed previously in one case of deletional alpha thalassaemia-mental retardation. Profuse Hb H bodies and Hb H on electrophoresis were consistent with Hb H disease. However, the latter was present at a relatively low level (1.6%) and, as well, the mean corpuscular volume (82.8 fl) and mean corpuscular haemoglobin (26.4 pg) were surprisingly high. Our findings are compared to other cases described with the non-deletional Hb H-mental retardation syndrome.

Adult↗
PubMed1989

Auditory temporal pattern learning in children with speech and language impairments.

Four children demonstrating speech and language impairments were examined with respect to their ability to learn to identify certain auditory temporal perceptual information. These children listened to six-element temporal patterns and made judgments about the temporal proximity of two of the elements. Subjects listened to the patterns over a number of exposures ranging from 6 to 14, depending on the subject. Performance on the task improved significantly with repeated exposures. However, the disordered subjects' best performance was still significantly poorer than normal children who had only 1 exposure to the task. These results suggest that, in part, performance differences on temporal perceptual tasks between speech and language disordered children and normal children can be accounted for by differences in perceptual learning. However, because the disordered children never reached normal levels, learning differences may be associated with a fundamental deficit in temporal processing or some other mechanism such as impaired attention.

Attention↗
PubMed1987

The hypervariable gene locus PUM, which codes for the tumour associated epithelial mucins, is located on chromosome 1, within the region 1q21-24.

A single hypervariable autosomal gene locus, PUM, codes for a family of mucin-type glycoproteins present in human urine, and in several other normal and malignant tissues of epithelial origin. These mucins can be detected after electrophoresis using a series of monoclonal antibodies that show a pronounced tumour specificity on immunohistochemistry. Using a recently cloned cDNA, pMUC10, coding for the core protein of the PUM coded mucins, to probe DNA isolated from a series of human-rodent somatic cell hybrids, we have assigned the PUM locus to chromosome 1. This assignment was confirmed by in situ hybridization of pMUC10 to lymphocyte metaphase chromosomes and the gene was shown to be located within the region 1q21-24.

Animals↗