18 results on '"Kim-Lian TAN"'
Search Results
2. High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group
- Author
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Yong-Chui Wee, Noor Fadzlin Mahali, Kek Heng Chua, Kim-Lian Tan, Elizabeth George, Ping Chin Lee, and Jin-Ai Mary Anne Tan
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congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Article Subject ,lcsh:Biotechnology ,Health, Toxicology and Mutagenesis ,Genetic counseling ,Thalassemia ,Population ,Prevalence ,lcsh:Medicine ,Prenatal diagnosis ,Comorbidity ,Alpha-thalassemia ,Risk Assessment ,Indigenous ,Population Groups ,alpha-Thalassemia ,Risk Factors ,lcsh:TP248.13-248.65 ,hemic and lymphatic diseases ,Environmental health ,Genetics ,medicine ,Humans ,education ,Molecular Biology ,education.field_of_study ,business.industry ,lcsh:R ,beta-Thalassemia ,Malaysia ,Beta thalassemia ,General Medicine ,medicine.disease ,Molecular Medicine ,business ,Research Article ,Biotechnology - Abstract
Thalassemia can lead to severe transfusion-dependent anemia, and it is the most common genetic disorder in Malaysia. This paper aims to determine the prevalence of thalassemia in the Kadazandusuns, the largest indigenous group in Sabah, East Malaysia.α- andβ-thalassemia were confirmed in 33.6% and 12.8%, of the individuals studied respectively. The high prevalence ofα- andβ-thalassemia in the Kadazandusuns indicates that thalassemia screening, genetic counseling, and prenatal diagnosis should be included as part of their healthcare system. This preliminary paper serves as a baseline for further investigations into the health and genetic defects of the major indigenous population in Sabah, East Malaysia.
- Published
- 2010
3. Heterogeneity in alpha-thalassemia interactions in Malays, Chinese and Indians in Malaysia
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Yong-Chui Wee, Sook Fan Yap, Kim-Lian Tan, Teresa Wai-Ping Chow, and Jin-Ai Mary Anne Tan
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Adult ,medicine.medical_specialty ,Adolescent ,Thalassemia ,Cell volume ,Compound heterozygosity ,Gene Deletions ,Asian People ,alpha-Thalassemia ,Pregnancy ,Genotype ,Humans ,Medicine ,Hemoglobin Constant Spring ,Genetics ,Kuala lumpur ,Base Sequence ,business.industry ,Obstetrics ,Genetic Carrier Screening ,Pregnancy Complications, Hematologic ,Malaysia ,Obstetrics and Gynecology ,DNA ,medicine.disease ,Globins ,Molecular analysis ,Female ,business - Abstract
AIM Interactions between different determinants of alpha-thalassemia raises considerable problems, particularly during pregnancies where antenatal diagnosis is necessary. This study aims to determine the different types of deletional alpha-thalassemia and Hemoglobin Constant Spring (HbCS), and their frequency in Malays, Chinese and Indians in Malaysia. METHODS DNA from 650 pregnant women from the Antenatal Clinic of the University of Malaya Medical Center in Kuala Lumpur, Malaysia who showed mean cell volume < or =89 fL and/or mean cell hemoglobin < or =28 pg were analyzed for the double alpha-globin gene South-East Asian deletion (--SEA), the -alpha3.7 and -alpha4.2 single alpha-globin gene deletions and HbCS. RESULTS One hundred and three (15.8%) of the pregnant women were confirmed as alpha-thalassemia carriers: 25 (3.8%) were alpha-thalassemia-1 carriers with the --SEA/alphaalpha genotype, 64 (9.8%) were heterozygous for the -alpha3.7 rightward deletion (-alpha3.7/alphaalpha), four (0.6%) were heterozygous for the -alpha4.2 leftward deletion (-alpha4.2/alphaalpha), nine (1.4%) were heterozygous for HbCS (alphaCSalpha/alphaalpha) and one (0.2%) was compound heterozygous with the -alpha3.7/alphaCSalpha genotype. The double alpha-globin gene --SEA deletion was significantly higher in the Chinese (15%) compared to the Malays (2.5%) and not detected in the Indians studied. The -alpha3.7 deletion was distributed equally in the three races. HbCS and -alpha4.2 was observed only in the Malays. CONCLUSION The data obtained gives a better understanding of the interactions of the different alpha-thalassemia determinants in the different ethnic groups, thus enabling more rapid and specific confirmation of alpha-thalassemia in affected pregnancies where antenatal diagnosis is necessary.
- Published
- 2005
4. Mild Beta-Thalassemia intermedia Caused by Compound Heterozygosity for Gγ(Aγδβ)o/β-Thalassemia and Molecular Characterization of the Defect in Four Chinese Families
- Author
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Yong Chui Wee, Mary Anne Tan Jin Ai, Yean Ching Wong, Juan Loong Kok, Sook Fan Yap, and Kim Lian Tan
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Hemolytic anemia ,congenital, hereditary, and neonatal diseases and abnormalities ,Mutation ,Beta thalassemia ,Hematology ,General Medicine ,Biology ,Compound heterozygosity ,medicine.disease ,medicine.disease_cause ,Molecular biology ,Loss of heterozygosity ,Hemoglobinopathy ,hemic and lymphatic diseases ,Genotype ,medicine ,BETA-THALASSEMIA INTERMEDIA - Abstract
Molecular characterization of the compound heterozygous condition – Gγ(Aγδβ)o/β-thalassemia – in four families showing mild β-thalassemia intermedia was carried out using DNA amplification techniques. Using the Amplification Refractory Mutation System (ARMS) to confirm the β-mutations and DNA amplification to detect the 100-kb Chinese-specific Gγ(Aγδβ)o-deletion, two families were confirmed to possess Gγ(Aγδβ)o/β-thalassemia with the IVSII No. 654 β+-allele. In the third family, the Gγ(Aγδβ)o-deletion was confirmed in the father and the mother was a β-thalassemia carrier with the cd 41–42 βo-allele. Their affected child with Gγ(Aγδβ)o/β-thalassemia was found to be transfusion dependent. The same Gγ(Aγδβ)o-deletion and β-thalassemia (cd 41–42) was also confirmed in a fourth family. In addition, the mother was also diagnosed with Hb H disease (genotype -α3.7/–SEA). Both the children were found to possess Gγ(Aγδβ)o/β-thalassemia but they were not transfusion dependent and this could be due to co-inheritance of α-thalassemia-2 (genotype-α3.7/αα) in the children together with their compound heterozygous condition.
- Published
- 2003
5. Combine-ARMS: A Rapid and Cost-Effective Protocol for Molecular Characterization of β-Thalassemia in Malaysia
- Author
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Y.C. Wong, Kim-Lian Tan, J.A.M.A. Tan, S.F. Yap, Meow-Keong Thong, and Y.C. Wee
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Electrophoresis ,Oncology ,China ,Heterozygote ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Pathology ,DNA Mutational Analysis ,Population ,Prenatal diagnosis ,Compound heterozygosity ,medicine.disease_cause ,Polymerase Chain Reaction ,Sensitivity and Specificity ,law.invention ,Asian People ,Pregnancy ,law ,Prenatal Diagnosis ,hemic and lymphatic diseases ,Internal medicine ,medicine ,Humans ,education ,Genetics (clinical) ,Polymerase chain reaction ,Malay ,Mutation ,education.field_of_study ,business.industry ,beta-Thalassemia ,Malaysia ,Beta thalassemia ,medicine.disease ,language.human_language ,Molecular analysis ,language ,Female ,business - Abstract
Beta-thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta3-thalassemia is essential in Malaysia because about 4.5% of the population are heterozygous carriers for beta-thalassemia. The high percentage of compound heterozygosity (47.62%) found in beta-thalassemia major patients in the Thalassaemia Registry, University of Malaya Medical Centre (UMMC), Malaysia, also supports a need for rapid, economical, and sensitive protocols for the detection of beta-thalassemia mutations. Molecular characterization of beta-thalassemia mutations in Malaysia is currently carried out using ARMS, which detects a single beta-thalassemia mutation per PCR reaction. We developed and evaluated Combine amplification refractory mutation system (C-ARMS) techniques for efficient molecular detection of two to three beta-thalassemia mutations in a single PCR reaction. Three C-ARMS protocols were evaluated and established for molecular characterization of common beta-thalassemia mutations in the Malay and Chinese ethnic groups in Malaysia. Two C-ARMS protocols (cd 41-42/IVSII #654 and -29/cd 71-72) detected the beta-thalassemia mutations in 74.98% of the Chinese patients studied. The CARMS for cd 41-42/IVSII #654 detected beta-thalassemia mutations in 72% of the Chinese families. C-ARMS for cd 41-42/IVSI #5/cd 17 allowed detection of beta-thalassemia mutations in 36.53% of beta-thalassemia in the Malay patients. C-ARMS for cd 41-42/IVSI #5/cd 17 detected beta-thalassemia in 45.54% of the Chinese patients. We conclude that C-ARMS with the ability to detect two to three mutations in a single reaction provides more rapid and cost-effective protocols for beta-thalassemia prenatal diagnosis and molecular analysis programs in Malaysia.
- Published
- 2001
6. Reducing Anxiety Levels in Preschool Children Undergoing Cryotherapy for Cutaneous Viral Warts
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Eugene Sern Ting Tan, Irene Siew Heok Lim, Felicia Geok Ching Tan, Andy S.L. Tan, Kim Lian Tan, and Hong Liang Tey
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Male ,Video player ,medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Outcome measures ,Cryotherapy ,Dermatology ,General Medicine ,Viral warts ,Anxiety ,Skin Diseases ,Reducing anxiety ,Child, Preschool ,Anxiety score ,medicine ,Physical therapy ,Humans ,Female ,Warts ,medicine.symptom ,business ,Anxiety scale - Abstract
To determine if watching a children's program on a portable video player reduces anxiety levels in preschool children before cryotherapy for cutaneous viral warts.Nonblinded before-after trial.General dermatology clinic.Consecutive patients aged 2 to 6 years who underwent cryotherapy for cutaneous viral warts.Patients were shown a children's program on a portable video player before cryotherapy.Mean score difference on the modified Yale Preoperative Anxiety Scale between children treated during the 10 weeks before vs the 10 weeks after the intervention was implemented.Ninety-nine cryotherapy sessions performed among 35 children were evaluated. Fifteen children underwent cryotherapy during the preintervention phase only, and 13 children underwent cryotherapy during the intervention phase only. The mean modified Yale Preoperative Anxiety Scale scores were 58.4 during the preintervention phase and 37.7 during the intervention phase (P = .005). The percentages of children with a high anxiety score (≥30) were 100% (15 of 15) during the preintervention phase and 38% (5 of 13) during the intervention phase (P.001). Another 7 children underwent cryotherapy during both the preintervention and intervention phases. Their mean modified Yale Preoperative Anxiety Scale scores were 53.7 during the preintervention phase and 42.0 during the intervention phase (P = .03). The percentages of children with a high anxiety score were 86% (6 of 7) during the intervention phase and 43% (3 of 7) during the intervention phase (P = .25). In both groups, the time spent coaxing and treating children decreased after the intervention, but the differences were not statistically significant.The use of a portable video player significantly reduced preprocedural anxiety levels in preschool children undergoing cryotherapy for cutaneous viral warts.
- Published
- 2012
7. Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: challenges in hemoglobin analysis and clinical diagnosis
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Elizabeth George, Juan Loong Kok, Yong Chui Wee, Jin Ai Mary Anne Tan, and Kim Lian Tan
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Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Thalassemia ,Hemoglobins, Abnormal ,DNA Mutational Analysis ,Alpha (ethology) ,Gene mutation ,Biology ,medicine.disease_cause ,Compound heterozygosity ,Southeast asian ,Asian People ,alpha-Thalassemia ,hemic and lymphatic diseases ,Genetics ,medicine ,Humans ,Allele ,Molecular Biology ,Sequence Deletion ,Mutation ,Base Sequence ,beta-Thalassemia ,Malaysia ,Infant ,General Medicine ,medicine.disease ,Pedigree ,Female ,Hemoglobin - Abstract
Co-inheritance of alpha-thalassemia with homozygosity or compound heterozygosity for beta-thalassemia may ameliorate beta-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of alpha-thalassemia alleles (-alpha/alphaalpha --/alphaalpha, --/-alpha). The co-inheritance of beta-thalassemia with alpha-thalassemia with a single gene deletion (-alpha/alphaalpha) is usually associated with thalassemia major. In contrast, the co-inheritance of beta-thalassemia with two alpha-genes deleted in cis or trans (--/alphaalpha or -alpha/-alpha) generally produces beta-thalassemia intermedia. In Southeast Asia, the most common defect responsible for alpha-thalassemia is the Southeast Asian (SEA) deletion of 20.5 kilobases. The presence of the SEA deletion with Hb Constant Spring (HbCS) produces HbH-CS disease. Co-inheritance of HbH-CS with compound heterozygosity for beta-thalassemia is very rare. This study presents a Malay patient with HbH-CS disorder and beta degrees/beta+-thalassemia. The SEA deletion was confirmed in the patient using a duplex-PCR. A Combine-Amplification Refractory Mutation System (C-ARMS) technique to simultaneously detect HbCS and Hb Quong Sze confirmed HbCS in the patient. Compound heterozygosity for CD41/42 and Poly A was confirmed using the ARMS. This is a unique case as the SEA alpha-gene deletion in cis (--SEA/alphaalpha) is generally not present in the Malays, who more commonly possess the two alpha-gene deletion in trans (-alpha/-alpha). In addition, the beta-globin gene mutation at CD41/42 is a common mutation in the Chinese and not in the Malays. The presence of both the SEA deletion and CD41/42 in the mother of the patient suggests the possible introduction of these two defects into the family by marriage with a Chinese.
- Published
- 2009
8. Interaction of Hb South Florida (codon 1; GTG--ATG) and HbE, with beta-thalassemia (IVS1-1; G--A): expression of different clinical phenotypes
- Author
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Jin-Ai Mary Anne Tan, Lee-Lee Chan, Kim-Lian Tan, Yong-Chui Wee, Elizabeth George, and Khairul Zaman Omar
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congenital, hereditary, and neonatal diseases and abnormalities ,Genotype ,Thalassemia ,Hemoglobins, Abnormal ,DNA Mutational Analysis ,Molecular Sequence Data ,Gene Expression ,Biology ,medicine.disease_cause ,Compound heterozygosity ,Polymerase Chain Reaction ,Gene Frequency ,hemic and lymphatic diseases ,medicine ,Humans ,Point Mutation ,Blood Transfusion ,Allele ,Codon ,Gene ,Alleles ,DNA Primers ,Genetics ,Mutation ,beta-Thalassemia ,Hemoglobin variants ,Genetic Variation ,Infant ,medicine.disease ,Hemoglobinopathy ,Phenotype ,Pediatrics, Perinatology and Child Health ,Splenomegaly ,Female ,RNA Splice Sites ,Hepatomegaly - Abstract
Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G--A).HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia.Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA.The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother.
- Published
- 2008
9. Molecular characterisation and frequency of Ggamma Xmn I polymorphism in Chinese and Malay beta-thalassaemia patients in Malaysia
- Author
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Yean Ching, Wong, Elizabeth, George, Kim Lian, Tan, Sook Fan, Yap, Lee Lee, Chan, and Jin Ai Mary Anne, Tan
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Polymorphism, Genetic ,Asian People ,beta-Thalassemia ,Malaysia ,Humans ,Deoxyribonucleases, Type II Site-Specific ,Polymerase Chain Reaction - Abstract
The molecular basis of variable phenotypes in P-thalassaemia patients with identical genotypes has been associated with co-inheritance of alpha-thalassaemia and persistence of HbF production in adult life. The Xmn I restriction site at -158 position of the Ggamma-gene is associated with increased expression of the Ggamma-globin gene and higher production of HbF This study aims to determine the frequency of the digammaferent genotypes of the Ggamma Xmn I polymorphism in P-thalassaemia patients in two ethnic groups in Malaysia. Molecular characterisation and frequency of the Ggamma Xmn I polymorphism were studied in fifty-eight Chinese and forty-nine beta-thalassaemia Malay patients by Xmn I digestion after DNA amplification of a 650 bp sequence. The in-house developed technique did not require further purification or concentration of amplified DNA before restriction enzyme digestion. The cheaper Seakem LE agarose was used instead of Nusieve agarose and distinct well separated bands were observed. Genotyping showed that the most frequent genotype observed in the Malaysian Chinese was homozygosity for the absence of the Xmn I site (-/-) (89.7%). In the Malays, heterozygosity of the Xmn I site (+/-) was most common (63.3%). Homozygosity for the Xmn I site (+/+) was absent in the Chinese, but was confirmed in 8.2% of the Malays. The ratio of the (+) allele (presence of the Xmn I site) to the (-) allele (absence of the Xmn I site)) was higher in the Malays (0.66) compared to the Chinese (0.05). The (+/-) and (+/+) genotypes are more commonly observed in the Malays than the Chinese in Malaysia.
- Published
- 2007
10. An immunohistochemical method for the diagnosis of melioidosis
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Savithri D. Puthucheary, Kum Thong Wong, Jamuna Vadivelu, and Kim Lian Tan
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Adult ,Male ,Pathology ,medicine.medical_specialty ,Melioidosis ,Burkholderia pseudomallei ,Adolescent ,Autopsy ,Pathology and Forensic Medicine ,Microbiology ,Immunoenzyme Techniques ,medicine ,Humans ,Aged ,biology ,Immunoperoxidase ,Staining and Labeling ,Middle Aged ,biology.organism_classification ,medicine.disease ,Staining ,Polyclonal antibodies ,biology.protein ,Immunohistochemistry ,Female ,Positive staining - Abstract
In order to assess the usefulness of immunohistochemistry in the diagnosis of melioidosis, an infection by Burkholderia pseudomallei, polyclonal antibodies were applied to tissues from known cases of melioidosis and to other infected tissues. Formalin-fixed, paraffin-embedded tissues were stained by a modified immunoperoxidase technique. In autopsy tissues with inflammatory lesions of melioidosis, the cytoplasm of phagocytes and intact bacilli, both intra- and extracellular, were stained very strongly positive. Relatively more focal positive staining was observed in some but not all surgical biopsies from proven cases of melioidosis. In granulomas staining was mainly found in the central necrotic areas, with little staining of peripheral phagocytes. All control materials stained negative. Immunohistochemistry appears to be a useful diagnostic tool in melioidosis.
- Published
- 1996
11. Contents Vol. 109, 2003
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Daniel H. Kett, Wenche Jy, Naoko Miwa, Alessandra Rusignuolo, H. Müller, N. Papadopoulos, A. Cheva, Yean Ching Wong, Hiroshi Nihei, Akira Kawashima, Giovanna Meloni, Sook Fan Yap, Lajos Gergely, Éva Remenyik, Dalia Stagler, Mayukh Das, C. Schneider, D. Tamiolakis, Paolo de Fabritiis, Kosaku Nitta, J. Thiele, Naoki Kobayashi, Yoshinori Iwatani, Franco Mandelli, E. Varus, Giovanna Palumbo, Edgardop S. Santos, László Váróczy, Arnon Nagler, Shigeru Otsubo, Akitoshi Imai, Lidia De Felice, Keiko Uchida, A. Mank, P. Bakker, A. Semin-Goossens, Osamu Kabutomori, Roshan B. Cohla, Keisuke Sato, A. Kotini, Takahumi Ogawa, Joaquin J. Jimenez, Giacinto La Verde, Toshio Higa, Masahiro Imamura, Tomomi Toubai, Moshe Gmori, Ulrich Kaiser, Shimon Slavin, F. Simone, Giuseppe Avvisati, Lawrence L. Horstman, D. Mohanty, Yoshio Kiyama, Györgyi Vadász, Junji Tanaka, Yuzuru Kanakura, Shlomi Konstantini, Maria Teresa Petrucci, C. Wickenhauser, Kim Lian Tan, P. Skaphida, Wako Yumura, Juan Loong Kok, J. v.d. Lelie, Árpád Illés, Masahiro Ogasawara, R. Vos, B.P. Dash, M.R. Ranjit, Naoki Kimata, G.P. Chhotray, Takashi Akiba, H.M. Kvasnicka, Mary Anne Tan Jin Ai, Yoshihiko Watanabe, Noriyuki Miyokawa, Yong Chui Wee, D.W. Beelen, Michela Ribersani, Teresa Gagliano-DeCesare, T. Jivannakis, Masaharu Kasai, Zoneddy Ruiz-Dayao, Yoko Kondo, Yeon S. Ahn, Yuriko Otsubo, and Soumya Panigrahi
- Subjects
Hematology ,General Medicine - Published
- 2003
12. Subject Index Vol. 109, 2003
- Author
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Yoshihiko Watanabe, Daniel H. Kett, Paolo de Fabritiis, Györgyi Vadász, Maria Teresa Petrucci, C. Wickenhauser, Alessandra Rusignuolo, P. Bakker, Yoshio Kiyama, M.R. Ranjit, Noriyuki Miyokawa, Lawrence L. Horstman, T. Jivannakis, Yong Chui Wee, Ulrich Kaiser, Yean Ching Wong, Dalia Stagler, D. Tamiolakis, Masaharu Kasai, Toshio Higa, Kim Lian Tan, Masahiro Ogasawara, G.P. Chhotray, Edgardop S. Santos, Naoki Kimata, Mayukh Das, Yuriko Otsubo, P. Skaphida, D.W. Beelen, Soumya Panigrahi, J. Thiele, Wako Yumura, Naoki Kobayashi, Shlomi Konstantini, Teresa Gagliano-DeCesare, H.M. Kvasnicka, F. Simone, Michela Ribersani, Keiko Uchida, A. Kotini, Juan Loong Kok, Takashi Akiba, László Váróczy, Naoko Miwa, Takahumi Ogawa, Arnon Nagler, Akitoshi Imai, Masahiro Imamura, Mary Anne Tan Jin Ai, N. Papadopoulos, A. Mank, J. v.d. Lelie, Junji Tanaka, Éva Remenyik, Árpád Illés, B.P. Dash, Yoko Kondo, Yuzuru Kanakura, Roshan B. Cohla, Tomomi Toubai, Osamu Kabutomori, Zoneddy Ruiz-Dayao, C. Schneider, Joaquin J. Jimenez, Kosaku Nitta, Franco Mandelli, Moshe Gmori, Shigeru Otsubo, Sook Fan Yap, Keisuke Sato, Shimon Slavin, Yeon S. Ahn, D. Mohanty, R. Vos, Wenche Jy, H. Müller, E. Varus, Lidia De Felice, A. Cheva, Hiroshi Nihei, Akira Kawashima, Yoshinori Iwatani, A. Semin-Goossens, Giovanna Meloni, Lajos Gergely, Giovanna Palumbo, Giacinto La Verde, and Giuseppe Avvisati
- Subjects
Index (economics) ,Statistics ,Subject (documents) ,Hematology ,General Medicine ,Mathematics - Published
- 2003
13. Reducing Anxiety Levels in Preschool Children Undergoing Cryotherapy for Cutaneous Viral Warts.
- Author
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Hong Liang Tey, Eugene Sern Ting Tan, Felicia Geok Ching Tan, Kim Lian Tan, Irene Siew Heok Lim, and Andy Soon Leong Tan
- Abstract
Objective:To determine if watching a children's program onaportablevideoplayerreducesanxietylevels inpreschool children before cryotherapy for cutaneous viral warts. Design: Nonblinded before-after trial. Setting: General dermatology clinic. Participants: Consecutive patients aged 2 to 6 years who underwent cryotherapy for cutaneous viral warts. Intervention: Patients were shown a children's program on a portable video player before cryotherapy. Main Outcome Measure: Mean score difference on the modified Yale Preoperative Anxiety Scale between children treated during the 10 weeks before vs the 10 weeks after the intervention was implemented. Results: Ninety-nine cryotherapy sessions performed among 35 children were evaluated. Fifteen children underwent cryotherapy during the preintervention phase only, and 13 children underwent cryotherapy during the intervention phase only. The mean modified Yale Preoperative Anxiety Scale scores were 58.4 during the preintervention phase and 37.7 during the intervention phase (P=.005). The percentages of children with a high anxiety score (⩾30) were 100% (15 of 15) during the preintervention phase and 38% (5 of 13) during the intervention phase (P<.001). Another 7 children underwent cryotherapy during both the preintervention and intervention phases. Their mean modified Yale Preoperative Anxiety Scale scores were 53.7 during the preintervention phase and 42.0 during the intervention phase (P=.03). The percentages of children with a high anxiety score were 86% (6 of 7) during the intervention phase and 43% (3 of 7) during the intervention phase (P=.25). In both groups, the time spent coaxing and treating children decreased after the intervention, but the differences were not statistically significant. Conclusion: The use of a portable video player significantly reduced preprocedural anxiety levels in preschool children undergoing cryotherapy for cutaneous viral warts. [ABSTRACT FROM AUTHOR]
- Published
- 2012
- Full Text
- View/download PDF
14. High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group.
- Author
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Tan, Jin-Ai Mary Anne, Ping-Chin Lee, Yong-Chui Wee, Kim-Lian Tan, Mahali, Noor Fadzlin, George, Elizabeth, and Kek-Heng Chua
- Subjects
DISEASE prevalence ,GENETICS of thalassemia ,BETA-Thalassemia ,ALPHA-Thalassemia ,ORANG Asal (Malaysian people) - Abstract
Thalassemia can lead to severe transfusion-dependent anemia, and it is the most common genetic disorder in Malaysia. This paper aims to determine the prevalence of thalassemia in the Kadazandusuns, the largest indigenous group in Sabah, East Malaysia. α- and β-thalassemia were confirmed in 33.6% and 12.8%, of the individuals studied respectively. The high prevalence of α- and β-thalassemia in the Kadazandusuns indicates that thalassemia screening, genetic counseling, and prenatal diagnosis should be included as part of their healthcare system. This preliminary paper serves as a baseline for further investigations into the health and genetic defects of the major indigenous population in Sabah, East Malaysia. [ABSTRACT FROM AUTHOR]
- Published
- 2010
- Full Text
- View/download PDF
15. Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a Combine-Amplification Refractory Mutation System.
- Author
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Yong-Chui WEE, Kim-Lian TAN, Kek-Heng CHUA, Elizabeth GEORGE, and Jin-Ai Mary Anne TAN
- Subjects
- *
HEMOGLOBINS , *GENETIC mutation , *AMPLIFIED fragment length polymorphism , *THALASSEMIA , *POLYMERASE chain reaction , *RESTRICTION fragment length polymorphisms - Abstract
Background: The interaction of the non-deletional α+-thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the Malaysian population. Methods: DNA from two families with Haemoglobin H disease was extracted from EDTA-anticoagulated whole blood and subjected to molecular analysis for a-thalassaemia. A duplex polymerase chain reaction was used to detect the Southeast Asian a-globin gene deletion. Polymerase chain reaction-restriction fragment length polymorphism analysis was then carried out to determine the presence of Haemoglobin Constant Spring and Haemoglobin Quong Sze. A combine- amplification refractory mutation system protocol was optimised and implemented for the rapid and specific molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze in a single polymerase chain reaction. Results and Conclusions: The combine- amplification refractory mutation system for Haemoglobin Constant Spring and Haemoglobin Quong Sze, together with the duplex polymerase chain reaction, provides accurate pre- and postnatal diagnosis of non-deletional Haemoglobin H disease and allows detailed genotype analyses using minimal quantities of DNA. [ABSTRACT FROM AUTHOR]
- Published
- 2009
16. Heterogeneity in α-thalassemia interactions in Malays, Chinese and Indians in Malaysia.
- Author
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Yong-Chui Wee, Kim-Lian Tan, Teresa Wai-Ping Chow, Sook-Fan Yap, and Tan, Jin-Ai Mary Anne
- Subjects
- *
THALASSEMIA , *FETAL diseases , *HEMOGLOBINS , *GLOBIN genes , *PRENATAL diagnosis - Abstract
Aim: Interactions between different determinants of α-thalassemia raises considerable problems, particularly during pregnancies where antenatal diagnosis is necessary. This study aims to determine the different types of deletional α-thalassemia and Hemoglobin Constant Spring (HbCS), and their frequency in Malays, Chinese and Indians in Malaysia. Methods: DNA from 650 pregnant women from the Antenatal Clinic of the University of Malaya Medical Center in Kuala Lumpur, Malaysia who showed mean cell volume ≤89 fL and/or mean cell hemoglobin ≤28 pg were analyzed for the double α-globin gene South-East Asian deletion (--SEA), the -α3.7 and -α4.2 single α-globin gene deletions and HbCS. Results: One hundred and three (15.8%) of the pregnant women were confirmed as α-thalassemia carriers: 25 (3.8%) were α-thalassemia-1 carriers with the --SEA/αα genotype, 64 (9.8%) were heterozygous for the -α3.7 rightward deletion (-α3.7/αα), four (0.6%) were heterozygous for the -α4.2 leftward deletion (-α4.2/αα), nine (1.4%) were heterozygous for HbCS (αCSα/αα) and one (0.2%) was compound heterozygous with the -α3.7/αCSα genotype. The double α-globin gene --SEA deletion was significantly higher in the Chinese (15%) compared to the Malays (2.5%) and not detected in the Indians studied. The -α3.7 deletion was distributed equally in the three races. HbCS and -α4.2 was observed only in the Malays. Conclusion: The data obtained gives a better understanding of the interactions of the different α-thalassemia determinants in the different ethnic groups, thus enabling more rapid and specific confirmation of α-thalassemia in affected pregnancies where antenatal diagnosis is necessary. [ABSTRACT FROM AUTHOR]
- Published
- 2005
- Full Text
- View/download PDF
17. Mild Beta-Thalassemia intermedia Caused by Compound Heterozygosity for [supG]ϒ([supA]ϒδβ)°/ β-Thalassemia and Molecular Characterization of the Defect in Four Chinese Families.
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Tan Jin Ai, Mary Anne, Sook Fan Yap, Kim Lian Tan, Yean Ching Wong, Yong Chui Wee, and Juan Loong Kok
- Subjects
THALASSEMIA ,GENETIC disorders ,GENETIC polymorphisms ,DNA ,GENETIC mutation - Abstract
Molecular characterization of the compound heterozygous condition--[supG]γ([supA]γδΒ)[supo]/Β-thalassemia--in four families showing mild Β-thalassemia intermedia was carried out using DNA amplification techniques. Using the Amplification Refractory Mutation System (ARMS) to confirm the Β-mutations and DNA amplification to detect the 100-kb Chinese-specific [supG]γ([supA]γδΒ)[supo]-deletion, two families were confirmed to possess [supG]γ([supA]γδΒ)[supo]/&Beta-thalassemia with the IVSII No. 654 Β[sup+]-allele. In the third family, the [supG]γ([supA]γδΒ)[supo]-deletion was confirmed in the father and the mother was a Β-thalassemia carrier with the cd 41-42 Β[supo]-allele. Their affected child with [supG]γ([supA]γδΒ)[supo]/Β-thalassemia was found to be transfusion dependent. The same [supG]γ([supA]γδΒ)[supo]-deletion and Β-thalassemia (cd 41-42) was also confirmed in a fourth family. In addition, the mother was also diagnosed with Hb H disease (genotype-α[sup3.7]/[sup-SEA]). Both the children were found to possess [supG]γ([supA]γδΒ)[supo]/Β-thalassemia but they were not transfusion dependent and this could be due to co-inheritance of α-thalassemia-2 (genotype-α[sup3.7]/αα) in the children together with their compound heterozygous condition. [ABSTRACT FROM AUTHOR]
- Published
- 2003
- Full Text
- View/download PDF
18. Dystrophin gene analysis in Duchenne/Becker dystrophy in a Malaysian population using multiplex polymerase chain reaction.
- Author
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Tan, Jin-Ai Mary Anne, Chan, James Hsian-Meng, Kim-Lian Tan, Annuar, Azlina Ahmad, Moon-Keen Lee, Khean-Jin Goh, and Kum-Thong Wong
- Subjects
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DYSTROPHIN genes , *GENES , *GENE expression , *GENETIC regulation , *DUCHENNE muscular dystrophy , *BECKER muscular dystrophy , *DIAGNOSTIC use of polymerase chain reaction , *MOLECULAR diagnosis , *GENETICS ,MUSCULAR dystrophy genetics - Abstract
Dystrophinopathy is the commonest form of muscular dystrophy and comprises clinically recognized forms, Duchenne dystrophy and Becker dystrophy. Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibres leading to fibre destruction and disease. The aims of this study are to investigate the detection rate, types and distribution of large gene deletions in Malaysian dystrophinopathy patients using the multiplex polymerase chain reaction (MPCR). MPCR of 18 "hot-spot deletion" regions along the dystrophin gene was performed on DNA from 48 muscle biopsy-confirmed cases of dystrophinopathy. A positive detection rate of 58% (28/48) was observed, where 84% (16/19) Indian, 35% (6/17) Chinese and 50% (6/12) Malay ethnic groups showed deletions in their dystrophin genes. The Malaysian Indians appear to have a higher prevalence for large gene deletions compared to the Chinese and Malays. Further analyses of 42 confirmed positive cases (present 28 plus previous 14 cases) by MPCR showed the majority of deletions were in the mid-distal region of the dystrophin gene (81% in exons 45-60). The MPCR is a specific and sensitive method for confirmation of gene deletions responsible for dystrophinopathy. [ABSTRACT FROM AUTHOR]
- Published
- 2010
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