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Biomedical subjects

H M Daly

Publications and source records attributed to H M Daly.

At least 19 recordsLinked to original sources
PubMed1996

Type I antithrombin deficiency: five novel mutations associated with thrombosis.

The genetic basis of Type I antithrombin deficiency has been investigated in six unrelated kindred with positive histories of thrombosis using a PCR amplification/direct sequencing approach. Four frameshift mutations, all introducing premature translation termination codons were identified. Thus, deletions, of a C at nucleotide position 2599 or 2600, a G at position 2601-2602 and a CT dinucleotide at position 7428-7429 were detected in three kindred and confirmed by restriction enzyme analysis. The identical insertion, of a T at nucleotide 2770, was observed in two apparently unrelated families. This finding may have been due to a founder effect since antithrombin gene polymorphism analysis showed all affected individuals to share a common haplotype. An in frame deletion of 6 bp at nucleotide position 2690-2696 causing the removal of codons 76 and 77 encoding Ile 76 and Phe 77 was also detected indicating that these amino acids are essential for stability of the mature antithrombin.

Adult↗
PubMed1992

Insertions/deletions in the antithrombin gene: 3 mutations associated with non-expression.

We have investigated the molecular basis of antithrombin deficiency in 3 individuals, 2 of whom had a proven family history of thromboembolic disease. An approximate 50% reduction in functional and immunologic levels of antithrombin was detected in plasma from the propositi indicating an allelic deficiency of antithrombin. In each case direct sequencing of amplified DNA revealed a novel mutation involving single bases: two being insertions, of a T in codon 48 and an A in codon 208, and the third being the deletion of an A in codon 370. The three mutations, which were confirmed by cloning and sequencing the normal and variant alleles, all caused frameshifts leading to premature termination of protein translation. In no case could a truncated antithrombin be detected in plasma from the propositus suggesting either that it fails to be secreted, or is rapidly degraded.

Adult↗
PubMed1992

Implantable intravenous access device.

The use of a fully implantable device for venous access is described in two infants with transfusion dependent haemolytic anaemia. This device is a possible improvement in the treatment of infants needing long term venous access, although doctors should be aware of the infrequent complications.

Anemia, Hemolytic↗
PubMed1992

Antithrombin III deficiency and cerebrovascular accidents in young adults.

A young man with antithrombin III (AT-III) deficiency sustained a cerebellar venous infarct and recovered following treatment with AT-III concentrate. A family study showed that other members were affected. AT-III deficiency in this family was found to be due to a new variant AT-III TRURO 1. Young patients with strokes should be screened for thrombophilia.

Adult↗
PubMed1991

Intracerebral haemorrhage due to acquired factor XIII inhibitor--successful response to factor XIII concentrate.

A 63-year-old woman presented with extensive bruising. An inhibitor to factor XIII was detected. Subsequent subcutaneous bruising and soft tissue haemorrhage into the left foot were treated with infusions of pasteurized factor XIII concentrate with good effect. Immunosuppression with cyclophosphamide was attempted but in spite of this she suffered a right cerebral haemorrhage necessitating further intensive therapy with factor XIII concentrate. This overcame the inhibitor, adequate post-infusion factor XIII levels were achieved and she made an excellent recovery. Factor XIII concentrate was well tolerated with no evidence of transmission of hepatitis or HIV infection. The inhibitor appeared to interfere with haemostasis by hindering the fibrin binding site of factor XIII, resulting in interference in clot-solubility tests. Subsequently the inhibitor resolved.

Blood Coagulation Tests↗
PubMed1988

Clinical experience with a pasteurised human plasma concentrate in factor XIII deficiency.

A three-day-old infant presented with umbilical haemorrhage. Factor XIII deficiency was diagnosed. When one month old she commenced prophylactic injections of pasteurised factor XIII concentrate of human plasma origin. During two and a half years treatment there were no haemorrhagic episodes and factor XIII concentrate was well tolerated. Satisfactory post infusion factor XIII levels were achieved. Three transient elevations of aspartate transaminase occurred, the cause of which has not been established. There was no evidence of transmission of hepatitis or H.I.V. infection. A brother, born one year later, is also affected and commenced prophylactic therapy with the same factor XIII concentrate. Experience in these two infants suggests the product is efficacious.

Aspartate Aminotransferases↗
PubMed1987

Angina bullosa haemorrhagica: lesional immunostaining and haematological findings.

The aetiology of angina bullosa haemorrhagica remains obscure. Fourteen patients with clinical features suggestive of angina bullosa haemorrhagica were investigated. Haemostatic function tests were carried out on an initial 5 patients and immunostain studies on a total of 12 patients. The results indicate that the aetiology of angina bullosa haemorrhagica is associated with neither a haemostatic defect, nor an immunopathogenic basis, and the cause is, as yet, unclear.

Aged↗
PubMed1985

Acute encephalopathy coincident with seroconversion for anti-HTLV-III.

Acute encephalopathy was associated with the appearance of antibodies to human T-lymphotropic virus (HTLV-III) in two patients. A third patient showed seroconversion for anti-HTLV-III, but the temporal association was not established so precisely. The illness was characterised by a prodromal period of up to 2 weeks, characterised by pyrexia, general malaise, and changes of mood. The encephalopathy culminated in epileptiform seizures in two of the patients. Electroencephalographic changes were compatible with viral encephalitis, and cerebrospinal-fluid pleocytosis was minimal. Neurological signs and symptoms resolved quickly in all patients, and no residual central-nervous-system sequelae were apparent.

Acquired Immunodeficiency Syndrome↗
PubMed1985

AIDS surveillance in haemophilia.

We suspected a patient attending our Haemophilia Centre had developed Acquired Immunodeficiency Syndrome (AIDS) and therefore immunological evaluation was performed on 43 patients with haemophilia and von Willebrand's disease attending the Centre. The index patient died of Pneumocytis carinii pneumonia. Thirty-one patients had either abnormal T cell subsets or helper/suppressor ratios. Thirty-two patients had hypergammaglobulinaemia. There was no direct correlation between these immunological abnormalities and the total amount or type of treatment received. T cell abnormalities were not confined to the 13 patients who had received the same batches of concentrate as the index case. The index case simultaneously contracted hepatitis B. He was the only patient to receive a large amount of the suspect batches of concentrate, not previously immune to hepatitis B.

Acquired Immunodeficiency Syndrome↗