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Biomedical subjects

K Pendry

Publications and source records attributed to K Pendry.

9 recordsLinked to original sources
PubMed2006

Targeted screening for genetic haemochromatosis: a combined phenotype/genotype approach.

OBJECTIVE: To evaluate the clinical utility of a targeted screening approach for the detection of genetic haemochromatosis. METHODS: Screening by measuring fasting serum transferrin saturation (TS) and gene testing was carried out in patients in whom a raised serum alanine amino transferase (ALT) activity and raised random serum TS had been found on routine blood testing. RESULTS: During the 29 month study period, 32 patients homozygous for the C282Y genotype were detected from a catchment population of 330,000 by screening blood samples referred initially for routine laboratory liver function tests. By comparison, during the same period of time and within the same population, only seven patients were found by clinical suspicion alone. The patients in the study, after treatment by venesection, have shown both clinical and biochemical improvement. CONCLUSIONS: The study shows that from a population of patients in whom a routine liver function profile had been requested, it is possible to detect subjects homozygous for the C282Y HFE genotype who have clinical or biochemical markers of iron overload.

D-Alanine Transaminase↗
PubMed1993

Factors influencing haematological recovery in 53 patients with acute myeloid leukaemia in first remission after autologous bone marrow transplantation.

The kinetics of haematological recovery were retrospectively analysed in 53 patients with acute myeloid leukaemia in first remission after myeloablative chemoradiotherapy followed by autologous bone marrow transplantation. The median time to achieve a neutrophil count of 1 x 10(9)/l was 46 d (22-196 d) and median time to achieve unsupported platelet counts of 20 x 10(9)/l and 50 x 10(9)/l was 70 d (24-310 d) and 126 d (29-497 d) respectively. Multivariate analysis revealed two factors that were significantly associated with delayed neutrophil and platelet recovery: (1) use of high dose fractionated TBI and mononuclear cell cryopreservation, and (2) low platelet count at the time of bone marrow harvest. There was no correlation with: number of courses of chemotherapy, remission to ABMT interval, CMV status, indices of autograft quality or the development of elevated platelet associated immunoglobulin. Delayed haematological recovery did not predict for relapse or death. Delayed platelet recovery did, however, present significant problems with increased blood and platelet requirements and lengthening of hospital stay.

Acute Disease↗
PubMed1993

Analysis of pre- and post-donation haematological values in plateletpheresis donors.

Pre- and post-donation haematological values were measured in 112 donors undergoing plateletpheresis using Haemonetics PCS machines. We found significant differences between pre- and post-donation means for males (M) and females (F) for haemoglobin (M: pre 14.73 g/dl, post 15.25 g/dl; F: pre 13.57 g/dl, post 13.94 g/dl), haematocrit (M: pre 0.418, post 0.431; F: pre 0.389, post 0.4), total protein (M: pre 73.1 g/l, post 66 g/l; F: pre 72.2 g/l, post 63.7 g/l) and albumin (M: pre 42.2 g/l, post 38.5 g/l; F: 41.4 g/l, post 37 g/l). Significant differences were also seen for platelet count (pre 258.6 x 10(9)/l, post 229.2 x 10(9)/l), total white cells (pre 5.3 x 10(9)/l, post 5.55 x 10(9)/l) and neutrophils (pre 3.15 x 10(9)/l, post 3.33 x 10(9)/l), but there were no differences between males and females. This information was of value in establishing post-donation reference ranges which could be utilised when reviewing the suitability of donors for subsequent donations.

Adult↗
PubMed1992

Polymerase chain reaction amplification of two polymorphic simple repeat sequences within the von Willebrand factor gene: application to family studies in von Willebrand disease.

We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out of 44 (66%) similar individuals. Family studies were carried out on 11 kindreds with von Willebrand disease (vWD). Ten of these families were found to be informative for one or other of the VNTRs or for a combination of data from both VNTRs. This method can be used for antenatal diagnosis and for carrier diagnosis in recessive forms of vWD. It is also useful for tracking the gene associated with vWD in type I families where there may be one or more individuals with a phenotypically uncertain diagnosis.

Base Sequence↗