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D H Chui

Publications and source records attributed to D H Chui.

At least 91 records · Page 5Linked to original sources
PubMed1992

Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya.

We describe a 25-year-old black woman who presented with a long history of anemia requiring transfusions during childhood and adolescence. Molecular analysis revealed her to be a compound heterozygote for the sickle mutation and the approximately 22.7 kb deletion associated with hemoglobin Kenya. This patient's clinical course was more severe than previously reported for the Hb S/Hb Kenya genotype, a probable consequence of concomitant iron deficiency.

Adult↗
PubMed1992

Identification of an extensive zeta-alpha globin gene deletion in a Chinese individual.

We describe a novel alpha-thalassaemia-1 deletion that removes the entire zeta-alpha globin gene cluster. A Chinese couple were referred for counselling after two consecutive pregnancies ended with fetal hydrops. Gene mapping was used to demonstrate that the mother is heterozygous for the South-east Asia alpha-thalassaemia-1 deletion (zeta zeta zeta alpha alpha/zeta zeta--SEA), while the father carries an alpha-thalassaemia-1 deletion of more than 100 kilobases (zeta zeta alpha alpha/----). This newly discovered deletion extends for unknown distances 3' and 5' of the zeta-alpha globin gene cluster and has been designated (--HW).

Chromosome Deletion↗
PubMed1992

Early pathological changes of endothelia in a model using LDL perfusion at physiological LDL-cholesterol concentration.

The aim of the present research was to provide further insight into the debated problem of the existence of modified LDL in vivo. For this purpose a novel model was devised for studying LDL injurious effect on endothelial cells (EC) by infusing native cholesterol rich LDL, diluted to physiological LDL cholesterol concentration. Normal rabbits were infused with LDL separated from rabbits previously fed either with standard food (I-LDL Group), 1% cholesterol (II-LDL Group) or 1% cholesterol plus probucol (IV-LDL Group). Cu++ modified II-LDL was infused as well (III-LDL Group). After dilution as above, lipid oxide (LP) significantly increased in III- and II-LDL media, as compared to I- and IV-LDL media. EC of III- and II-LDL Groups showed irregular shape and surface pattern. Further, they showed adhering clusters of monocytes, platelets and erythrocytes. Endocytic vesicles and ruthenium red-positive particles increased too. EC of IV-LDL Group were only slightly affected as compared to I-LDL Group. These data suggest that native LDL from hypercholesterolemic rabbits contain an oxidized form which is noxious to EC even when LDL is infused at physiological LDL-cholesterol concentration. This early injury is in part LP-associated and actively involves platelets and monocytes.

Animals↗
PubMed1991

High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region.

We identify and characterize a novel beta 0-thalassemia mutation that is associated with an unusually high level of hemoglobin (Hb) A2 in the heterozygote. This newly discovered mutation is caused by a 532-basepair deletion that extends from positions -454 to + 78 relative to the mRNA cap site of the beta-globin gene. The propositi are 9-month-old fraternal twins. One of the twins is a compound heterozygote for the deletion and Hb S, the other is a compound heterozygote for the deletion and Hb C.

Base Sequence↗
PubMed1991

Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype.

We report a relatively mild phenotype associated with two siblings who are compound heterozygotes for Hb S and a beta zero-thalassemia mutation due to a approximately 1.4-kb deletion of the 5' region of the beta-globin gene. Each is found to have unusually high levels of Hb A2 and Hb F, accounting for more than 20% of the total hemoglobin. These may interfere with intracellular Hb S polymerization, thus leading to a mild clinical course.

Adult↗
PubMed1991

A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to beta-thalassemia.

The 1.8-kb beta-globin gene fragments of DNAs from individuals heterozygous for nine different beta-thalassemia mutations involving 1, 2, 3, 4, or 25 basepair (bp) insertions or deletions were amplified by the polymerase chain reaction (PCR). The PCR products were subjected to electrophoresis on aqueous 8% polyacrylamide gel. In each heterozygote with either a 2 to 25 bp deletion, but not with a 1 bp insertion, two slower migrating bands representing heteroduplexes in addition to the 1.8-kb homoduplex band were seen. The electrophoretic positions of these slower migrating bands were characteristic of each mutation studied. By co-amplification with known normal DNA, it was also possible to distinguish DNAs from normal individuals and from individuals who are homozygous for the small insertion/deletion mutations. These studies demonstrate that the heteroduplex formation generated in PCR can be applied as a simple method in the diagnosis of insertion/deletion mutations involving 2 to 25 bp in beta-thalassemias as well as in other genetic disorders.

Base Sequence↗
PubMed1991

Serum alpha-L-fucosidase. A more sensitive marker for hepatocellular carcinoma?

Forty-nine liver disease patients (7 chronic persistent hepatitis, CPH; 10 chronic active hepatitis, CAH; 13 liver cirrhosis, LC; 9 primary hepatocellular carcinoma, PHC, without LC; and 10 PHC with associated LC) and 20 controls were assessed for their serum alpha-L-fucosidase (ALF) and alpha-fetoprotein (AFP) levels and several routine liver injury parameters. Tumor diameter in those with hepatic cancer was assessed by angio-CT. Only ALF and AFP were significantly greater in patients with PHC and PHC + LC patients as compared to patients with LC alone. At an accepted cutoff level of 500 ng/ml, the AFP level provided 43% false negative tests. On the other hand, an ALF level exceeding 740 mumol/hr/ml provided a sensitivity of 84% with a specificity of 94%. No relationship between the ALF level and Child's criteria or with any liver injury parameter was evident. Considering all individual values, the ALF, rather than the AFP, correlated with tumor size. This finding suggests the ALF level may be of value in the early detection of PHC as well as in the follow-up of patients treated for PHC.

Adult↗
PubMed1991

Influence of high cholesterol feeding on the pattern and progression of experimental cerebral ischemia.

The aim of our research was to study if cholesterol feeding might affect the ischemic changes in the vessels surrounding infarction foci in Sephadex G-75-induced cerebral ischemia model (SG-75). One hundred-twenty-four rabbits were divided as follows: group I was given standard food for 5 weeks; group II: as group I and then injected with SG-75; group III: standard food plus 1% cholesterol for 5 weeks; and group IV: as group III and then injected with SG-75. Rabbits were sacrificed 3 h, 6 h and 2, 5 and 7 days after ischemia had occurred. Vessels surrounding infarction foci (SIF) were identified by using a 6% carbon perfusion. Samples were examined by light microscopy and transmission electron microscopy (TEM). The occurrence of hemorrhagic infarction (HI) showed a clear time/course increase in group II whereas a decrease after 2 days in group IV was observed. The rate of HI was 40% and 20% in group II and IV, respectively. SIF vessels showed red blood cells leakage in group II, whereas multiple platelet thrombi appeared in group IV. This phenomenon caused a more extensive ischemic damage, when compared to group II. By making use of a widely employed model of high cholesterol diet and of a more physiological model of cerebral ischemia devised by us, we have provided the evidence that the hypercholesterolemia-induced changes in the SIF vessels strongly affect the pattern and progression of cerebral ischemia.

Animals↗
PubMed1991

Cholesterol-rich LDL perfused at physiological LDL-cholesterol concentration induces platelet aggregation and PAF-acetylhydrolase activation.

The aim of this research was to perform an in vivo study on the relationships between lipid oxide (LP), platelet aggregation and PAF-acetylhydrolase in a model using perfusion of cholesterol-rich LDL media diluted to physiological LDL-cholesterol concentration. Normal rabbits were infused with LDL (d 1.025-1.063 g/ml) extracted from rabbits previously fed either with standard food (I-LDL group), 1% cholesterol food (II-LDL group) or 1% cholesterol plus probucol (IV-LDL group). CU2+ modified II-LDL was also infused (III-LDL group). After dilution as above, LP increased significantly in III- and II-LDL media. After perfusion, LP significantly increased in III- and II-LDL groups as compared to baseline values and to control. Compared to the I-LDL group, PAF-acetylhydrolase and platelet aggregation significantly increased in III- and II-LDL groups. These data indicate the property of cholesterol- rich LDL to activate PAF-acetylhydrolase and enhance platelet aggregation, even when perfused through a medium containing a physiological LDL-cholesterol concentration.

1-Alkyl-2-acetylglycerophosphocholine Esterase↗
PubMed1990

Effect of graded intravenous doses of urogastrone on duodenal bicarbonate secretion in conscious rats: evidence of a dose-response pattern.

In the present study, the effect of graded intravenous bolus injections of urogastrone, 0.5, 5, 25 and 50 micrograms/kg, on rat duodenal bicarbonate secretion was investigated. Perfused duodenal loops were prepared in rats in a strictly controlled fashion. After full recovery, different groups of rats were injected with intravenous graded bolus doses of urogastrone. During the following 45-min study period, duodenal pH and pCO2 were measured at 5-min intervals and bicarbonate secretion was calculated accordingly. Compared to controls, each dose of urogastrone caused a significant dose-response increase in duodenal bicarbonate secretion, measured either at each 5-min reading or as total 45-min output. These results provide the evidence that urogastrone may play a role in the humoral control of duodenal alkaline secretion.

Animals↗
PubMed1990

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

We have identified five unrelated patients, all of north European origin, who have hemoglobin H (Hb H) disease and profound mental handicap. Surprisingly, detailed molecular analysis of the alpha globin complex is normal in these subjects. Clinically, they present with a rather uniform constellation of abnormalities, notably severe mental handicap, microcephaly, relative hypertelorism, unusual facies and genital anomalies. Hematologically, their Hb H disease has subtly but distinctly milder properties than the recognized Mendelian forms of the disease. These common features suggest that these five "nondeletion" patients have a similar underlying mutation, quite distinct from the 16p13.3 deletion associated with alpha thalassemia and mild to moderate mental retardation described in the accompanying paper. We speculate that the locus of this underlying mutation is not closely linked to the alpha globin complex and may encode a trans-acting factor involved in the normal regulation of alpha globin expression.

Adolescent↗
PubMed1989

Hemopoietic stem cells in murine embryonic yolk sac and peripheral blood.

Disaggregated embryonic yolk sac cells and circulating peripheral blood cells were obtained from normal murine day 9 embryos, prior to the formation of the fetal liver. These cells were microinjected transplacentally into days 11-15 W mutant anemic fetuses, when the fetal liver was the major hemopoietic organ. In a small proportion of the recipient animals examined after birth, long-term repopulation by the embryonic donor hemopoietic cells was observed. The donor hemopoietic stem cells proliferated and differentiated in the hosts as evidenced by the presence of donor hemoglobins in the growing recipient host animals. Some mothers of the pups were also repopulated by the donor stem cells. These results provide direct evidence that, during early murine embryogenesis, there are functional hemopoietic stem cells which are capable of colonizing the adult hemopoietic organs and probably the fetal liver and spleen to initiate hemopoiesis in these tissues.

Animals↗
PubMed1989

Human embryonic zeta-globin chains in fetal and newborn blood.

A sensitive and specific radioimmunoassay (RIA) for human embryonic zeta-globin chains was used to study normal fetal blood and newborn cord blood as well as cord blood from newborns with alpha-thalassemias. From 17 weeks until 37 weeks of gestation, zeta-globin chains were present in almost all fetal and cord blood samples (0.27% +/- 0.15% in samples of weeks 17 through 30; 0.14% +/- 0.11% in samples of weeks 31 through 37). zeta-Globin chains were present in greater than 80% of cord blood hemolysates from normal, full-term newborns (0.15% +/- 0.11%) as well as from 16 near-term newborns of diabetic mothers (0.13% +/- 0.13%). zeta-Globin chains were not detected in normal infants aged 3 months to 2 years. In cord blood hemolysates from alpha-thalassemic newborns, the levels of zeta-globin chain content varied from very high to undetectable levels. Gene mapping of the zeta-alpha-globin gene cluster was performed in 12 newborns in whom cord blood zeta-globin chains had been determined. Newborns who were carriers of alpha-thalassemia-1 due to the (--SEA/) deletion had very high levels of zeta-globin chains (greater than 1.5%).

Aging↗
PubMed1988

Potential application of a new screening test for alpha-thalassemia-1 carriers.

A murine hybridoma cell line secreting monoclonal anti-human embryonic zeta-globin chain antibody has been established. Using this monoclonal antibody, a slot blot immunobinding assay for the detection of zeta-globin chains in adult hemolysates has been developed. This simple test can identify individuals who are alpha-thalassemia-1 carriers due to the (-SEA/) deletion. It is proposed that this test should be made generally available in Southeast Asia and Southern China, in order to identify couples who are at risk of begetting fetuses afflicted with homozygous alpha-thalassemia.

Animals↗