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Biomedical subjects

W Y Au

Publications and source records attributed to W Y Au.

At least 19 recordsLinked to original sources

Serial analysis of JAK2 mutation in a patient who developed essential thrombocythemia after orthotopic liver transplantation.

A 52-year-old man developed essential thrombocythemia (ET) with JAK2 V617F mutation after orthotopic liver transplantation (OLT). Retrospective analysis showed that, despite a low platelet count, the JAK2 mutation was already found at presentation 14 months before OLT. The high platelet count that would have been typical of ET might be masked by the cirrhosis-related hypersplenism. Thrombocythemia became obvious after OLT. The patient subsequently developed blastic transformation 12 months afterward, a process probably accelerated by the immunosuppression required for the OLT.

Amino Acid Substitution↗

A prospective study of respiratory ciliary structure and function after stem cell transplantation.

We prospectively investigated the morphological and ciliary function abnormalities in 19 consecutive Chinese patients undergoing hemopoietic stem cell transplantation (HSCT) and studied their relationship with pulmonary complications. The percentage of structural ciliary abnormalities preceding HSCT was comparable to normal controls, but increased up to 1-year post-HSCT. However, the abnormalities did not correlate with ciliary or pulmonary function. Ciliary beat frequency (CBF) for patients undergoing autologous and allogeneic SCT was lower than that of matched controls, with a further decline at one year. There was, however, no significant change in pulmonary function for the whole cohort. There was considerable variation in CBF and ciliary abnormalities in all cases during 3-month interval assessments. Regular ciliary assessment did not predict the only two patients who eventually suffered from bronchiolitis obliterans (BO). We conclude that structural and functional ciliary abnormalities are common in recipients of HSCT, and predict post-HSCT deterioration. However, there is no evidence to show that CBF monitoring may be of prospective benefit.

Adult↗

Tumor necrosis factor alpha promoter polymorphism and the risk of chronic lymphocytic leukemia and myeloma in the Chinese population.

The -308 GA promoter polymorphism of tumor necrosis factor alpha (TNFalpha) has been reported to be associated with an increased risk of lymphoid malignancies in Caucasians. We studied the incidence and prognostic significance of this polymorphism in Chinese patients with plasma cell myeloma (PCM), chronic lymphocytic leukemia (CLL) and lymphomas. Despite a far lower incidence of PCM and CLL in the Chinese population compared with Caucasians, the rates of TNFalpha-308A were similar to those in Caucasians, both in the study and control populations. Similarly, there was no increased rate of TNFalpha-308A in all the lymphomas studied, irrespective of lineage. However, TNFalpha-308A is significantly associated with female CLL cases and confers a strong negative prognostic impact for Chinese CLL. These argue for a possible biological role for increased TNFalpha production in CLL progression in low-risk individuals.

Adult↗

Hyperbilirubinemia and cholelithiasis in Chinese patients with hemoglobin H disease.

Hemoglobin H disease (HbH) is a hemoglobinopathy peculiar to parts of the world with high incidence alpha-thalassemia mutations. Among 90 HbH cases, 50 cases suffered from clinically significant jaundice (bilirubin >30 mmol/l), including 14 with severe jaundice (bilirubin >60 mmol/l). Cholelithiasis was found in 38 cases. The incidence is roughly eight times higher than that in background control population but 50% lower than that in beta-thalassemia. The risk of gallstones was related to higher bilirubin levels but not alpha-globin genotype, sex, ferritin, and hemoglobin levels. Homozygotes or double heterozygotes for Gilbert alleles (17.2%), but not heterozgyotes (42.2%), were found to have a significantly increased risk of gallstones and jaundice. However, common Chinese Gilbert syndrome alleles do not completely explain the variable risks.

Alleles↗

Molecular epidemiology of follicular lymphoma in Chinese: relationship with bcl-2/IgH translocation and bcl-6 397G/C polymorphism.

The relative incidence of follicular lymphoma (FL) compared with diffuse large B-cell lymphoma (DLCL) is low in Chinese. This may be due to a lower incidence of t(14;18)-mediated disease, a rapid transformation of FL to DLCL, or a lower incidence of FL-prone genetic polymorphisms (e.g., bcl-6 G397C). Using a conventional and long-distance polymerase chain reaction technique, we showed that 93% (43/46) of Chinese FL cases are t(14;18) related and are molecularly indistinguishable from Caucasian cases. The translocation was uncommonly found in Chinese DLCL cases (8/58, 14%). Furthermore, the incidence of bcl-6 hypermutation in FL and DLCL cases appeared to be comparable. These data do not suggest a high incidence of transformation from FL to DLCL in Chinese. Sequencing study also did not show an increased incidence of G397C polymorphism (heterozygote+homozygotes) in FL compared to a population with Chinese background or DLCL cases (25+5% vs 30+4% vs 22+3%). The reasons for the lower incidence of FL in Chinese remain unanswered.

Adult↗

Toxoplasma gondii serology and stem cell transplantation in Chinese.

We report the screening and monitoring results of toxoplasma activity in 602 cases of hematopoietic stem cell transplantation (HSCT) in Chinese. A total of 13 recipients and 12 donors (including one donor-recipient pair) were serologically positive for toxoplasma, giving an incidence of 2.1% and 2.3%, respectively. All patients except those with glucose-6-phosphate dehydrogenase (G6PD) deficiency received sulfamethoxazole-trimethoprim (septrin) prophylaxis post-HSCT. None of the 292 deaths, including eight seropositive (either donor or recipient) cases, were attributable to toxoplasma. Only two of 16 seropositive survivors remained seropositive, while none of 60 seronegative cases (including six with G6PD deficiency) seroconverted. We concluded that in low incidence areas, toxoplasmosis is not a significant complication of HSCT with septrin prophylaxis. Most patients are also expected to remain seronegative after HSCT.

Adolescent↗

Autoimmune thyroid dysfunction after hematopoietic stem cell transplantation.

Autoimmune thyroid disease (AITD) may occur in patients after hematopoietic stem cell transplantation (HSCT). In all, 10 cases of AITD (seven allogeneic and three autologous HSCT) were diagnosed among 721 HSCT recipients, including two patients with sequential hyper- and hypothyroidism. The 5-year actuarial rates for AITD after allogeneic and autologous HSCT were 2.9 and 4%, respectively. Significant risk factors included HSCT for chronic myeloid leukemia, the HLA B46 and DR9 loci and the A2B46DR9 haplotype, while female donors showed trend to significance. On multivariate analysis, only female donors and HLA DR9 remained significant. For autologous HSCT, the associations with HLA B46 and DR9 were also significant. Only three donors had a family history of AITD. A review of other reported cases confirmed the predominance of female donors, although the other associations including graft-versus-host disease, familial AITD and other autoimmune phenomena might be related to reporting bias. Since the actuarial incidence of AITD from female donors with predisposing HLA alleles may be over 30%, susceptible recipients should be carefully monitored. Owing to the small number of reported cases and different HLA associations with AITD in different populations, our observations await confirmatory data from other registries.

Adult↗

Incidence and spectrum of non-Hodgkin lymphoma in Chinese migrants to British Columbia.

The incidence and spectrum of non-Hodgkin lymphoma (NHL) differ between the Chinese and Caucasian populations. Using population-based registries, we studied the pattern of NHL in Chinese migrants to British Columbia (BC). The records of all NHL cases of Chinese descent diagnosed between 1980 and 1997 were retrieved. Age-standardized incidences were calculated by 5-year intervals in terms of age and calendar years and the relative rates were compared between the migrant, Hong Kong and BC populations. The histological distribution of NHL was compared with 4500 consecutive NHL cases diagnosed in the two populations. A total of 211 cases of migrant NHL were identified, with an age-standardized incidence rate of 7.11 per 100 000 per year, compared with the Hong Kong and BC rates of 7.91 [standardized incidence ratio (SIR) = 0.86, P = 0.01] and 11.88 (SIR = 0.56, P < 0.01). The standardized rates of follicular lymphoma remained low, but the incidence of gastric and nasal natural killer/T lymphomas in migrants were lower than expected. Genetic factors appeared to be stronger than environmental factors in governing the overall incidence of NHL in Chinese. However, certain subtypes of lymphoma may show decreased rates in migrants because of environmental factors.

Adolescent↗