Comparison of the HbH inclusion test and a PCR test in routine screening for α thalassaemia in Hong Kong

Aim - To compare the haemoglobin (Hb) H inclusion test with a polymerase chain reaction CPCR) test in routine screening for or thalassaemia. Methods - Ninety nine peripheral blood samples from Chinese patients with mean corpuscular volume below 80fl were screened for a thalassaemia using the HbH inclusion test and by PCR utilising primers bridging the common deletion breakpoint of the South East Asian (--SEA/) deletion. Results - The HbH inclusion test was positive in 78 (79%) patients, 73 (93.7%) of whom carried the (--SEA/) deletion on analysis of their DNA by PCR, as did one patient with a negative HbH inclusion test. Conclusions - These results suggest that in areas with a high prevalence of the (--SEA/) deletion, such as Hong Kong, the HbH inclusion test can be replaced by PCR as the investigation of choice in screening for a thalassaemia.published_or_final_versio

Supervised learning of the adaptive resonance theory system

A supervised learning ART model (SART) is proposed which is based on the structure of ARTMAP but is much simpler. The techniques of match tracking and complement coding have been implemented to ensure the correct selection of category and stability during the training and testing phases. Two simulations have been done in order to verify and evaluate the classification power of SART. The result of identification of poisonous mushroom by SART is compared with that by ARTMAP.published_or_final_versio

Evaluating a holistic energy benchmarking parameter of lift systems by using computer simulation

At present, there are benchmarking parameters to assess the energy performance of lifts, e.g. one in Germany adopted by VDI (4707-1/2), one internationally published by ISO (BS EN ISO 25745-2:2015), and the other in Hong Kong adopted by The Hong Kong Special Administrative Region (HKSAR) Government. These parameters are mainly checking the energy consumed by a lift drive without considering real time passenger demands and traffic conditions; the one in Hong Kong pinpointing a fully loaded up-journey under rated speed and the two in Europe pinpointing a round trip, bottom floor to top floor and return with an empty car, though including energy consumed by lighting, displays, ventilation etc. A holistic normalization method by Lam et al [1] was developed a number of years ago by one of the co-authors of this article, which can assess both drive efficiency and traffic control, termed J/kg-m, which is now adopted by the HKSAR Government as a good practice, but not specified in the mandatory code. In Europe, the energy unit of Wh has been used but here, Joule (J), i.e. Ws, is adopted to discriminate the difference between the two concepts. In this article, this parameter is evaluated under different lift traffic scenarios using computer simulation techniques, with an aim of arriving at a reasonable figure for benchmarking an energy efficient lift system with both an efficient drive as well as an efficient supervisory traffic control

Detection and characterisation of β-globin gene cluster deletions in Chinese using multiplex ligationdependent probe amplification

Background: Deletions in the β-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce. Aims: To use a recently available technique to investigate the frequencies and nature of β-globin cluster deletions in Chinese. Methods: 106 subjects with phenotypes of thalassaemia or HPFH and suspected to have deletions in the β-globin cluster were studied. A commercially available kit employing multiplex ligation-dependent probe amplification (MLPA) was used to screen for deletions. Gap PCR and direct nucleotide sequencing were used to characterise deletions detected. Results: 17 deletions in the β-globin cluster were found in 17 patients: 8 of Chinese (Aγδβ)0 thalassaemia, 7 of Southeast Asian (Vietnamese) deletion and 2 of Thai (Aγδβ) 0 thalassaemia. The only type of deletion detected in δβ-thalassaemia was Chinese (Aγδβ) 0 thalassaemia. The deletional form of HPFH was rarely seen in only 1 case of Thai (Aγδβ)0 thalassaemia. Deletions presenting as β-thalassaemia trait and raised HbF were all of the Southeast Asian (Vietnamese) deletion type. When these deletions were co-inherited with classical β-thalassaemia mutations in compound heterozygous states, the phenotypes could be very variable. Conclusions: In the Chinese population, there are only relatively few types of deletions seen in the β-globin cluster. MLPA is a fast and effective way of screening for these deletions. Characterisation of these deletions allows the development of simpler and more specific PCR-based tests for routine diagnostic use. Accurate prediction of phenotype is not always feasible. The molecular defects in many cases of HPFH still await discovery.published_or_final_versio

Comparison of haemoglobin H inclusion bodies with embryonic ζ globin in screening for α thalassaemia

Aims - To compare the haemoglobin (Hb) H inclusion test with immunocytochemical detection of embryonic ζ chains in screening for a thalassaemia. Methods - Blood samples from 115 patients with relevant clinical history and hypochromic microcytic indexes were screened using the HbH inclusion test and the Variant Hemoglobin Testing System (BioRad, Hercules, CA, USA). Results - The HbH inclusion test was positive in 61 of 115 cases, three of whom had HbH disease confirmed by electrophoresis. The remaining 58 had α thalassaemia 1. All three HbH cases and 56 of 58 cases of a thalassaemia 1 expressed embryonic ζ chains, giving a specificity of 96.7%. Fifty four of 115 cases had a negative HbH inclusion test, of whom 50 had β thalassaemia trait and three had iron deficiency. No diagnosis was reached for the remaining patient. Conclusion - The immunocytochemical test is as sensitive as the HbH inclusion test in screening for a thalassaemia. The presence of ζ chains is highly specific for a thalassaemia I incorporating the (--/SEA) deletion. The specificity and simplicity of the immunocytochemical test make it the test of choice in screening for α thalassaemia.published_or_final_versio

Low Pressure Ethenolysis of Renewable Methyl Oleate in a Microchemical System

A microchemical system for ethenolysis of renewable methyl oleate was developed, in which the dual-phase, microfluidic design enabled efficient diffusion of ethylene gas into liquid methyl oleate through an increased contact area. The increased mass transfer of ethylene favored the formation of desired commodity chemicals with significantly suppressed homometathesis when compared to the bulk system. In addition to higher selectivity and conversion, this system also provides the typical advantages of a microchemical system, including the possibility of convenient scale-up

Identification and characterization of EBP, a novel EEN binding protein that inhibits Ras signaling and is recruited into the nucleus by the MLL-EEN fusion protein

The chimeric MLL-EEN fusion protein is created as a result of chromosomal translocation t(11;19)(q23;p13). EEN, an Src homology 3 (SH3) domain-containing protein in the endophilin family, has been implicated in endocytosis, although little is known about its role in leukemogenesis mediated by the MLL-EEN fusion protein. In this study, we have identified and characterized EBP, a novel EEN binding protein that interacts with the SH3 domain of EEN through a proline-rich motif PPERP. EBP is a ubiquitous protein that is normally expressed in the cytoplasm but is recruited to the nucleus by MLL-EEN with a punctate localization pattern characteristic of the MLL chimeric proteins. EBP interacts simultaneously with EEN and Sos, a guanine-nucleotide exchange factor for Ras. Coexpressoin of EBP with EEN leads to suppression of Ras-induced cellular transformation and Ras-mediated activation of Elk-1. Taken together, our findings suggest a new mechanism for MLL-EEN-mediated leukemogenesis in which MLL-EEN interferes with the Ras-suppressing activities of EBP through direct interaction. © 2004 by The American Society of Hematology.postprin

Gd-DTPA enhanced MRI revealed leakage at aqueous-vitreous interface upon ocular hypertension

Session 75: Perfusion & Diffusion: Animal Models - Oral presentationThis study aims to employ in vivo contrast-enhanced MRI to evaluate the ocular transport upon an induction of ocular hypertension in the right eye in a rat model of chronic glaucoma. Following systemic administration of Gd-DTPA solution, our results showed a progressive T1-weighted signal increase in the anterior vitreous body of the glaucomatous eye but not the control eye, suggestive of the leakage of Gd-DTPA at the aqueous-vitreous interface. These findings may explain the sources of changing biochemical compositions in the glaucomatous chamber components, which may implicate the cascades of neurodegenerative processes in the retina and the optic nerve. Our findings of the early Gd-DTPA signal enhancements in the anterior vitreous body than the preretinal vitreous provided a noninvasive marker for the disease. More importantly, this approach could have direct clinical applications and can be readily translated to humans.published_or_final_versionThe 17th Scientific Meeting & Exhibition of the International Society of Magnetic Resonance in Medicine (ISMRM), Honolulu, HI., 18-24 April 2009. In Proceedings of ISMRM 17th Scientific Meeting & Exhibition, 2009, p. 74