Biomedical subjects
T Wilkinson
Publications and source records attributed to T Wilkinson.
Hb J-Camaguey [alpha 141(HC3)Arg----Gly] associated with alpha-thalassemia-1 in an Australian family.
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A new unstable and low oxygen affinity hemoglobin variant: Hb Stanmore [beta 111(G13)Val----Ala].
Hb Stanmore is a new hemoglobin variant with the amino acid substitution beta 111(G13)Val----Ala. It is unstable and has a low oxygen affinity. The propositus (of Italian nationality) is a double-heterozygote for Hb Stanmore and beta(0)-thalassemia.
Hb Geelong [beta 139(H17)Asn----Asp].
Hb Geelong [beta 139(H17)Asn----Asp] was detected in a German woman of Polish-Russian descent. It is an unstable variant which appears to increase the severity of a beta (+)-thalassemic phenotype in the propositus. The electrophoretic properties of Hb A and Hb Geelong are similar on cellulose acetate in both acidic and alkaline conditioning. The electrophoretic mobility and the amino acid analysis of beta XT-14 indicated the substitution Asn----Asp at beta 139. The sequence of beta XT-14 was confirmed by dansyl-Edman degradation. The slight increase observed in the P50 of whole blood is not intrinsic to the beta 139 substitution, but is thought to result from an increased 2,3-diphosphoglycerate level in response to anemia. No family studies were possible to investigate the mode of inheritance of either beta (+)-thalassemia or Hb Geelong in the propositus. Synthetic globin chain ratios suggest that impaired synthesis of the variant globin chain is partially responsible for the low level of Hb Geelong in peripheral blood.
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.
The anatomic relationship of the insertion of the superior lateral pterygoid muscle to the articular disc in the temporomandibular joint of human cadavers.
Confusion has existed as to whether the major insertion of the superior lateral pterygoid muscle is into the articular disc or the condyle. Five human cadaver joints were studied under the dissecting microscope. This allowed superior lateral pterygoid fibres to be selectively placed under tension to determine their point of insertion and to examine the integrity of the anterior joint capsule. All superior lateral pterygoid fibres gained either direct or indirect insertion to the condyle. A classification for the variation in insertion is suggested. The fibres of the anterior joint capsule extended from the anterior rim of the condyle to the roof of the infratemporal fossa but under the foot of the disc they blended with and became indistinguishable from disc fibres.
Hb Swan River [alpha 6(A4) Asp----Gly] initial identification in an Australian family.
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Hemoglobin I High Wycombe in an Australian family.
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Molecular defects in 2 examples of severe Hb H disease.
Severe Hb H disease presented in unexpected ways in 2 families of Greek origin. In 1, Hb H disease led to neonatal death. The underlying molecular defect was double-heterozygosity for the --Med/ alpha thalassaemia haplotype and a nondeletional alpha thalassaemia defect (alpha alpha T'Karditsa'/). The 2nd family requested antenatal diagnosis. The husband had mild nondeletional alpha thalassaemia. Initial investigations in the wife demonstrated unexpected gene mapping patterns. These have recently been shown to result from the (-alpha)Med 20.5/ haplotype.
Alpha thalassemia British type (alpha alpha/--Brit) in an Australian family.
Alpha thalassemia is rarely diagnosed in Australian families of British or Northern European ancestry. In 1972, a third generation Australian was shown to have alpha thalassemia. In the absence of known Mediterranean or South East Asian ancestry it was reported as being the first example of alpha thalassemia in an Australian family. Further study of the proposita in 1985 using DNA mapping of the alpha globin gene complex, shows a distinctive molecular defect identical to the British type of alpha thalassemia. The latter is clearly different from the commonly encountered Mediterranean and South East Asian alpha zero haplotypes. Recognition that alpha zero thalassemia occurs in Australians is important since it may produce a microcytic hypochromic anemia. Its inheritance together with other forms of alpha thalassemia may lead to severe Hb H disease or Hb Bart's hydrops fetalis.
Globin genes in Polynesians have many rearrangements including a recently described gamma gamma gamma gamma/.
Rearrangements involving genes of the alpha- and beta-globin loci were frequently detected in DNA from Polynesians. A founder effect and genetic drift occurring 2,000-3,000 years ago as Polynesians migrated eastward across the Pacific is proposed as the likely mechanism for these genetic changes that include deletions or additions of alpha-, gamma-, and zeta-globin genes and an unusual restriction fragment length polymorphism (RFLP) associated with the zeta gene. Preliminary data show different frequencies for gene rearrangements between island groups. Further study of these differences should provide additional information on the prehistory of Polynesians.
Alpha globin gene rearrangements in Polynesians are not associated with malaria.
Using gene mapping, 16.3% of Polynesians were shown to have alpha thalassemia. These results are surprising since malaria is not found in Polynesia. Moreover, triplicated alpha gene rearrangements were identified in a further 7.7%, a frequency not seen in other populations.
The problems and the values of objective nursing observations in psychiatric nursing care.
This paper describes a drug trial which illustrates the problems involved in objective nursing recordings to assess response to a specific treatment. It also highlights some difficulties in recording results. The paper briefly describes the history and diagnosis of a patient and the choice of treatment. The method of formulation of a checklist and the difficulties in completing a study are discussed. The results of the study and their value in planning future work are outlined. Conclusions are drawn about the feasibility of carrying out a controlled drug trial with a patient on a ward but the most important aspects are the ability of nurses to perform objective assessments and the value of this approach when assessing a patient and his response to treatment.
Some properties of the colony forming cell in adult acute leukaemia.
Variations in the concentration and physical characteristics of the bone marrow derived colony forming cell(CFC) have been studied in patients with acute leukaemia. Two-hundred-and-fifteen marrow samples from 83 patients provide the basis for this analysis. CFC concentration confirmed the clinical remission/relapse status and yielded some guidelines to prognosis in individual patients while the proportions of CFC in DNA synthesis also proved to be a most reliable indicator of disease status. In remission, CFC concentrations return to normal values whilst on presentation and in the relapse phase of acute leukaemia CFC numbers are reduced. Biophysical profiles of CFC established using albumin density gradient and velocity sedimentation studies also indicated the state of the leukaemic process in individual patients. By applying physical laws to the data obtained from such profiles, the mean volume, diameter, density and mass of CFC were calculated. CFC from leukaemic patients in relapse were up to twice the volume and mass although slightly less dense than CFC from normal patients. The reasons for these changes are explained and discussed.
B cell leukaemia.
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The colony forming cell in the myeloproliferative disorders and aplastic anaemia.
Bone marrow colony forming cell (CFC) concentration and the proportion of CFC in DNA synthesis were studied in myeloproliferative disorders and aplastic anaemia. Growth patterns of bone marrow cells in agar cultures were able to supplement traditional morphological and clinical criteria in the diagnosis of these haematological conditions. Bone marrow CFC concentration tended to be increased in chronic myeloid leukaemia (CML) and polycythaemia vera (PV), but decreased in myelofibrosis, erythroleukaemia, paroxysmal nocturnal haemoglobinuria (PNH) and the aplastic phase of aplastic anaemia. The proportion of CFC in DNA synthesis was decreased in CML, myelofibrosis and aplastic anaemia, but increased in blastic transformation, PV, PNH and during regeneration from aplastic anaemia. The proportion of CFC in DNA synthesis in bone marrow from patients with CML in blastic transformation was directly related to the percentage of myeloblasts in the bone marrow. CFC kinetics in blastic transformation have been demonstrated to be different from those in acute leukaemia.
Cryptococcus in bagpipes.
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A new hybrid haemoglobin: haemoglobin Strumica/Beograd occurring in an individual with four haemoglobins.
An investigation of the cord blood from full term twin infants revealed an additional haemoglobin F component due to an abnormal alpha chain. The father of the twins, whose blood picture was normal, was shown to have normal alpha and beta polypeptide chains together with variant alpha and beta polypeptide chains. Electrophoresis showed that he had four major haemoglobin components. Separation of the haemoglobin fractions by column chromatography, globin preparation, chain separation, tryptic and chymotryptic digestion and peptide map preparation led to the identification of haemaglobin A, haemoglobin Strumica (alpha2 112His leads to Arg beta2), haemoglobin D Beograd (alpha2beta2 121 Glu leads to Val) and a hybrid haemoglobin Strumica D/Beograd (alpha2 112His leads to Argbeta2 121Glu leads to Val).