Displaying publications 181 - 200 of 270 in total

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  1. Pengenalpastian dan profil pengekspresan gen biosintesis asid amino yis psikrofil, glaciozyma antarctica
    Izwan Bharudin, Radziah Zolkefli, Shazilah Kamaruddin, Farah Diba Abu Bakar, Abdul Munir Abdul Murad, Mohd Faizal Abu Bakar, et al.
    Sains Malaysiana, 2018;47:1675-1684.
    Mekanisme pengambilan dan penghasilan asid amino bagi mikroorganisma psikrofil yang bermandiri dan berpoliferasi
    pada persekitaran sejuk melampau masih belum difahami sepenuhnya. Objektif kajian ini ialah untuk mengenal pasti
    gen yang terlibat dalam penjanaan asid amino bagi yis psikrofil, Glaciozyma antarctica serta menentukan pengekspresan
    gen tersebut semasa kehadiran dan kekurangan asid amino dalam medium pertumbuhan. Pengenalpastian gen telah
    dilakukan melalui penjanaan penanda jujukan terekspres (ESTs) daripada dua perpustakaan cDNA yang dibina daripada
    sel yang dikultur dalam medium pertumbuhan kompleks dan medium pertumbuhan minimum tanpa asid amino. Sebanyak
    3552 klon cDNA daripada setiap perpustakaan dipilih secara rawak untuk dijujuk menghasilkan 1492 transkrip unik
    (medium kompleks) dan 1928 transkrip unik (medium minimum). Analisis pemadanan telah mengenl pasti gen mengekod
    protein yang terlibat di dalam pengambilan asid amino bebas, biosintesis asid amino serta gen yang terlibat dengan
    kitar semula asid amino berdasarkan tapak jalan yang digunakan oleh yis model, Saccharomyces cerevisiae. Analisis
    pengekspresan gen menggunakan kaedah RT-qPCR menunjukkan pengekspresan gen mengekod protein yang terlibat di
    dalam pengambilan asid amino bebas iaitu permease adalah tinggi pada medium kompleks manakala pengekspresan
    kebanyakan gen mengekod protein yang terlibat dalam kitar semula dan biosintesis asid amino adalah tinggi di dalam
    medium minimum. Kesimpulannya, gen yang terlibat dalam penjanaan dan pengambilan asid amino bagi mikroorganisma
    psikrofil adalah terpulihara seperti mikroorganisma mesofil dan pengekspresan gen-gen ini adalah diaruh oleh kehadiran
    atau ketiadaan asid amino bebas pada persekitaran.
  2. (-)-glaciantarcin, a new dipeptide and some secondary metabolites from the psychrophilic yeast glaciozyma antarctica pi12
    Andi R. Rosandy, Seng JL, Jalifah Latip, Muntaz A. Bakar, Rozida M. Khalid, Munir A. Murad A, et al.
    Sains Malaysiana, 2018;47:2693-2698.
    A new dipeptide, (-)-glaciantarcin (1) and three known compounds, cyclo(-Pro-Gly) (2), 1-(2-deoxypentofuranosyl)-5-
    methyl-2,4(1H,3H)-pyrimidinedione (3) and vidarabine (Ara-A) (4), were isolated from Glaciozyma antarctica PI12,
    a cold-adapted yeast. The chemical structures were elucidated by FT-IR, NMR and mass spectrometry. The cytotoxicity
    and antioxidant activities of compounds 1-4 were evaluated by using the MTT bioassay on MCF-7 (human breast cancer
    cell line), PC-3 (human prostate cancer cell line) and HEK-293 (normal human embryonic kidney cell line) and DPPH
    free radical scavenging activity, respectively. At concentration of 400 µM, all compounds showed the highest activity
    on MCF-7, with compound 1 at 65%, compound 2 (70%), compound 3 (66%) and compound 4 (58%) cell viability. All
    compounds exhibited weak antioxidant properties. To the best of our knowledge, this is the first report of compounds
    1-4 from Glaciozyma antactica.
  3. Fulltext Validation of oligonucleotide microarray gene expression profiles by real-time PCR using SYBR-Green 1 fluorescence
    Nik Norliza Nik Hassan, Rozita Rosli, Abdul Munir Abdul Murad, Nor Kaslina Kornain, Sabariah, A.R., Rohan Malek Johan, et al.
    Buletin Persatuan Genetik Malaysia, 2008;14(1):1-16.
    MyJurnal
    DNA microarray technology has permitted large scale parallel analysis of gene expression of several diseases, including cancers. Real-time PCR has become a well-established procedure for
    quantifying levels of gene expression. We evaluated Real-Time PCR to validate differentially expressed genes identified by DNA arrays. Gene expression of three different grade of transitional cell carcinoma (TCC) of human bladder cancer was determined using microarray slide containing cancer-related genes. Data obtained were sorted according based on the ratios between Cy3 and Cy5 dyes used and revealed 119, 235 and 183 differentially expressed genes in TCC WHO Grades I, II and III, respectively. Real-time PCR used SYBR Green-1 dye detection to validate relative change in gene expression. Real- Time PCR confirmed the change in gene expression of 17 of 28 (75%) genes identified by microarray. Real-Time PCR also suggest that genes identified by microarray with two or higher fold change cannot be eliminated as false nor be accepted as true without validation. Real-Time PCR based on SYBR Green- 1 is well-suited to validate DNA array results because it is quantitative, rapid and requires less RNA compared to the conventional assays.
  4. Fulltext HLA-B*15:02 screening in epileptic patients using a high resolution melting-real time PCR (HRM-QPCR) method
    Zam Zureena Mohd Rani, Nor Azian Abdul Murad, Saberi Saimun, Sri Noraima Othman, Rahman Jamal, Sue-Mian Then, et al.
    Neurology Asia, 2018;23(2):137-144.
    MyJurnal
    Background: The HLA-B*15:02 polymorphism in epileptic patients is known to be associated with carbamazepine-induced Stevens-Johnson syndrome (SJS). The prevalence of HLA-B*15:02 polymorphism seemed to be ethnic-specific with a higher frequency of HLA-B*15:02 in Asian compared to the Europeans. This study was performed to determine the frequency of the HLA-B*15:02 polymorphism in epileptic patients at the Chancellor Tuanku Muhriz Hospital-UKM Medical Centre (HCTM-UKMMC) using high resolution melting-real time PCR (HRM-QPCR) method.
    Methods: We performed a fast and effective in-house high resolution melting-real time polymerase chain reaction method and compared it with the conventional multiplex-PCR method. The specificity and sensitivity of each test were also determined using DNA from saliva.
    Results: Using the conventional multiplexPCR approach for screening, 25 out of 64 (39.1%) epileptic patients were positive for HLA-B*15:02. However, using the HRM-QPCR technique, 24/64 (37.5%) of the patients were positive. The one patient who tested positive by the multiplex-PCR but negative using the HRM-QPCR turned out to be negative by DNA sequencing. The HRM-QPCR and DNA sequencing showed 100% sensitivity and specificity. The multiplex-PCR showed 100% sensitivity and 98.4% specificity compared to both HRM-QPCR and DNA sequencing. The HRM-QPCR is also more cost-effective (
  5. Characterising yeast isolates from Malaysia towards the development of alternative heterologous protein expression systems
    Law DSN, Lim YJ, Nor Idaya Yatim, Abdul Munir Abdul Murad, Farah Diba Abu Bakar, Nathan S, et al.
    Sains Malaysiana, 2011;40.
    Yeasts with GRAS (Generally Regarded as Safe) status are commonly used as hosts for heterologous protein production. Yeasts are suitable expression hosts as they have been extensively characterised genetically. The objective of this project was to isolate yeasts from Malaysian food sources and subsequently to develop these as alternative hosts for heterologous protein production. Yeasts were isolated from Malaysian traditional fermented food namely ‘tapai’, ‘tuak’ and ‘ragi’. A total of 23 isolates were obtained and subjected to molecular identification by amplification and sequencing of the universally conserved ribosomal internal transcribed spacer (ITS), 26S rDNA and 18S rDNA sequences. We identified three species of yeasts, Saccharomyces cerevisiae, Hanseniaspora guilliermondii and Pichia anomala, which have a long tradition of usage in food production and have no adverse effects on humans. To test the feasibility of the yeasts as heterologous expression hosts, we have constructed an integrative vector, p1926Zeo containing the yeast 26S rDNA and Zeocin® resistance cassette. The p1926Zeo vector was linearised and transformed into both P. anomala and H. guilliermondii isolates via electroporation. Both hosts were successfully transformed at a relatively high efficiency. The transformants obtained had a growth profile similar to the respective wild type, indicating that integration of the plasmids into the host chromosome did not affect growth. These transformants were stable as they exhibited resistance to Zeocin even after 20 generations. Thus, both P. anomala and H. guilliermondii isolates exhibited the potential to be further developed as alternative heterologous protein expression hosts.
  6. Pengenalpastian dan pencirian gen trichoderma virens ukm1 mengekod enzim terlibat dalam pencuraian kitin krustasea
    Abdul Munir Abdul Murad, Rafidah Badrun, Sakina Shahabudin, Shazilah Kamaruddin, Madihah Ahmad Zairun, Farahayu Khairuddin, et al.
    Sains Malaysiana, 2013;42:715-724.
    Kitin merupakan polisakarida struktur yang dapat dicurai oleh enzim kitinolisis kepada pelbagai terbitan yang boleh digunakan dalam bidang perubatan, pertanian dan rawatan air. Pengenalpastian dan pencirian gen-gen Trichoderma virens UKM1 mengekod enzim terlibat dalam pencuraian kitin krustasea telah dilakukan melalui penjanaan penanda jujukan terekspres (ESTs) dan analisis pengekspresan gen menggunakan mikroatur DNA. Sebanyak tiga perpustakaan cDNA T. virens UKM1 yang masing-masing diaruh oleh kitin, glukosamina dan kitosan telah dibina. Sejumlah 1536 klon cDNA telah dijujuk dan sebanyak 1033 ESTs berkualiti telah dijana. Seterusnya, perbezaan pengekspresan gen apabila pertumbuhan kulat diaruh dengan kehadiran kitin krustasea dan tanpa kitin pada hari ketiga dan kelima telah ditentukan. Sebanyak 1824 klon cDNA telah dititik ke atas slaid kaca dan dihibrid bersama dengan cDNA terlabel Cy3 atau Cy5 yang disintesis daripada mRNA yang dipencil daripada kulat yang ditumbuhkan dalam medium mengandungi kitin krustasea atau glukosa (kawalan). Sebanyak 91 dan 61 gen, masing-masing bagi hari ketiga dan kelima didapati terekspres melebihi dua gandaan apabila kulat menggunakan kitin krustasea sebagai sumber karbon. Beberapa gen mengekod kitinase seperti ech1 dan cht3 (endokitinase), nag1 (eksokitinase) dan nagB (glukosamina 6-P-deaminase) didapati terekspres dengan tinggi pada kedua-dua hari. Selain daripada itu, gen mengekod protein hidrofobin, protease serina dan beberapa protein hipotetik juga terekspres dengan tinggi dengan kehadiran kitin krustasea. Protein-protein ini dijangka memainkan peranan penting dalam membantu pencuraian kitin krustasea.
  7. Fulltext MRN complex and atm kinase inhibitors impacts towards UVC-treated zebrafish embryonic development
    Shazrul Fazry, Malina Kumaran, Nahid Khalili, Ibrahim Mahmood, Herryawan Ryadi Eziwar Dyari, Nur Hidayah Jamar, et al.
    Pertanika Journal of Science & Technology, 2019;27(4):1615-1624.
    MyJurnal
    The zebrafish (Danio rerio) has become a prevailing vertebrate model for developmental biology studies due to its ease of care, rapid embryogenesis stages development and translucent embryos. In this studies, ATM Kinase and MRN complex role as DNA damage response proteins during embryogenesis was examined by using specific MRN complex (Mirin) and ATM Kinase inhibitors (Ku60019 and Ku55933). To create DNA lesions in zebrafish, embryos at mid-blastula transition (MBT) stage were exposed to inhibitors (Mirin, Ku60019 or Ku55933) and later exposed to UVC irradiation wavelength of between 100 to 280 nm. Hatching but with visible physical deformation was observed for embryos treated with Mirin, Ku60019 or Ku55933 and UVC exposure at concentration of 3μM, 1.5 nM and 3nM or lower, respectively up to 72 hours-post fertilisation (hpf). On the other hand, no deformities were observed for all control as well as mock treated embryos. This study confirmed that DNA damage response proteins are crucial during embryo development to prevent undesired abnormal biological development. Thus, it is proven that protein inhibitors are a cheaper alternative in valuating specific protein roles during embryogenesis compared to both genomic and transcription modification tools.
  8. Fulltext Synthesis, Structural Characterization, and Evaluation of the Biological Properties of Heteroleptic Palladium(II) Complexes
    Khan H, Daraz N, Khan MN, Said M, Akhtar N, Badshah A, et al.
    Bioinorg Chem Appl, 2014;2014:916361.
    PMID: 25276113 DOI: 10.1155/2014/916361
    Five heteroleptic palladium(II) complexes of the general formula Pd(PR3)(tu)Cl2, where PR3 = triphenylphosphine (1), diphenyl-o-tolylphosphine (2), diphenyl-p-tolylphosphine (3), diphenyl-t-butylphosphine (4), and diphenyl-o-methoxyphenylphosphine (5), and tu = 1,3-bis(2-methoxyphenyl) thiourea. They all have been synthesized and characterized by various spectroscopic techniques (elemental analysis, FTIR, and (1)H NMR and the ligand 1,3-bis(2-methoxyphenyl) thiourea was synthesized by single crystal X-ray diffraction technique). The synthesized compounds were screened for their antibacterial activity against four strains of bacteria (Escherichia coli, Shigella flexneri, Staphylococcus aureus, and Bacillus subtilis). The antitumor potential was evaluated in terms of activity against brine shrimp eggs and DNA interaction. The mixed ligand complexes have exhibited moderate antibacterial activity and promising antitumor potential.
  9. Distribution of surfactants along the estuarine area of Selangor River, Malaysia
    Alsalahi MA, Latif MT, Ali MM, Magam SM, Wahid NB, Khan MF, et al.
    Mar Pollut Bull, 2014 Mar 15;80(1-2):344-50.
    PMID: 24373668 DOI: 10.1016/j.marpolbul.2013.12.019
    This study aims to determine the levels of methylene blue active substances (MBAS) and ethyl violet active substances (EVAS) as anionic surfactants and of disulphine blue active substances (DBAS) as cationic surfactants in the surface microlayer (SML) around an estuarine area using colorimetric methods. The results show that the concentrations of surfactants around the estuarine area were dominated by anionic surfactants (MBAS and EVAS) with average concentrations of 0.39 and 0.51 μmol L⁻¹, respectively. There were significant between-station differences in surfactant concentrations (p<0.05) with higher concentrations found at the stations near the sea. The concentration of surfactants was higher during the rainy season than the dry season due to the influence of runoff water. Further investigation using total organic carbon (TOC) and total organic nitrogen (TON) shows that there is a significant correlation (p<0.05) between both anionic and cationic surfactants and the TON concentration.
  10. Fulltext Long term survival of patients with raised pulmonary arterial systolic pressure utilizing echocardiography-a five-year prospective study
    Tan MP, Bansal SK, Wynn NN, Umerov M, Gillham A, Henderson A, et al.
    J Geriatr Cardiol, 2012 Dec;9(4):328-35.
    PMID: 23341836 DOI: 10.3724/SP.J.1263.2012.06191
    BACKGROUND: Pulmonary arterial systolic pressure (PASP) can be estimated with transthoracic echocardiography. However, the significance of raised PASP on routine echocardiography is uncertain. In this study, we evaluated the mortality and hospitalization rates of subjects with raised PASP in a cohort of patients referred directly by their general practitioners for routine outpatient (open access) echocardiography for further analysis of suspected heart failure.
    RESULTS: A total of 485 subjects were referred for open access echocardiography at our hospital in 2002. A cohort of 209/485 (43%) consecutive subjects with measurable tricuspid regurgitation were followed for a minimum of five years investigating hospitalization rates and survival. Some 62 of 209 (30%) subjects had pulmonary hypertension (PH). Subjects with PH were significantly more likely to have four or more hospital admissions (22% vs. 8%; P < 0.01) and > 30 days of cumulative hospital stay over five years (29% vs. 13%; P < 0.01). PH was significantly associated with mortality (P = 0.003), while moderate to severe PH was an independent predictor of mortality (hazard ratio: 4.31; 95% confidence interval (95% CI): 1.51-12.30). Records from the Office of National Statistics revealed that subjects with PH were more likely to have chronic lung diseases recorded as immediate or contributory causes of death (50% vs. 14%; P < 0.05).
    CONCLUSIONS: PASP ≥ 36 mmHg on routine echocardiography is associated with recurrent hospital admissions, prolonged hospitalizations and increased cause of mortality. Therefore, the diagnosis of PH on echocardiography deserves further clinical evaluation, with future studies designed at defining a suitable diagnostic strategy.
    KEYWORDS: Chronic lung disease; Dyspnoea; Heart failure; Pulmonary hypertension; Transthoracic echocardiography
    Study site: Sunderland Royal Hospital, United Kingdom
  11. Human leucocyte antigen determinants of susceptibility to Barrett's oesophagus in Asians--a preliminary study
    Rajendra S, Ackroyd R, Murad S, Mohan C, Ho JJ, Goh KL, et al.
    Aliment Pharmacol Ther, 2005 Jun 1;21(11):1377-83.
    PMID: 15932368
    Characteristic immune profiles have been demonstrated in gastro-oesophageal reflux disease. However, the genetic basis of gastro-oesophageal reflux disease remains unclear.
  12. Skin prick test reactivity to foods in adult Malaysians with rhinitis
    Gendeh BS, Murad S, Razi AM, Abdullah N, Mohamed AS, Kadir KA
    Otolaryngol Head Neck Surg, 2000 May;122(5):758-62.
    PMID: 10793361
    The aim of the study was to determine the incidence of food and house dust mite (HDM) allergy in patients with nasal congestion and rhinorrhea attending the Otorhinolaryngology Clinic, National University of Malaysia, Kuala Lumpur. This was a prospective matched, controlled study of patients skin prick tested with commercial food and common aeroallergens. The participants were 148 Malaysian adults with symptoms of nasal congestion and rhinorrhea and 113 adult Malaysian control subjects without rhinitis symptoms. The skin prick test (SPT) was used to evaluate 11 foods common to the Malaysian diet and 3 HDM inhalants. Forty-eight percent of the patients with rhinitis had positive SPT results to foods, compared with 4.4% of control subjects (P < 0.05). The most commonly implicated foods were shrimp (48%) and rice (30%), which are common in the Malaysian diet. Seventy-two percent of rhinitis patients had positive SPT results to HDM, compared with 22.2% of control subjects (P < 0.05). Patients with rhinitis also had significantly more gastrointestinal problems than control subjects (P < 0.05). The incidences of HDM and food allergy are significantly greater in Malaysian adults with rhinitis symptoms than in control subjects without rhinitis. The effect of avoidance or immunotherapy awaits further study.
    Study site: Otorhinolaryngology Clinic, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Kuala Lumpur, Malaysia
  13. Disseminated histoplasmosis presenting with ileal perforation in a renal transplant recipient
    Zainudin BM, Kassim F, Annuar NM, Lim CS, Ghazali AK, Murad Z
    J Trop Med Hyg, 1992 Aug;95(4):276-9.
    PMID: 1495124
    A renal transplant patient presented with ileal perforation due to histoplasmosis 3 years after transplantation. Mesenteric lymph nodes and lungs were also affected by the disease. She was successfully treated with amphotericin B followed by ketoconazole.
  14. Fulltext Prevalence and factors associated with early initiation of breastfeeding among Bangladeshi mothers: A nationwide cross-sectional study
    Islam MA, Mamun A, Hossain MM, Bharati P, Saw A, Lestrel PE, et al.
    PLoS One, 2019;14(4):e0215733.
    PMID: 31022237 DOI: 10.1371/journal.pone.0215733
    BACKGROUND: Early initiation of breastfeeding (EIBF) is associated with better health of the mothers and reduced risk of neonatal mortality. The objective of this study was to determine the prevalence of EIBF and associated factors among Bangladeshi mothers.

    METHODS: The data was extracted from the Bangladesh Demographic and Health Survey (BDHS)-2014. A total of 4,092 married non-pregnant Bangladeshi mothers who had at least one child aged 2 years or younger were included in this study. A two-level logistic regression model was used to remove the clustering effect for finding the impact of socio-economic and demographic factors on EIBF.

    RESULTS: The prevalence of EIBF among Bangladeshi mothers was 51.4% (urban: 47.1% and rural: 53.4%). A two -level logistic regression model showed that mothers living in the Sylhet division (p<0.01) and rural environment (p<0.05) were more likely to practice EIBF. Mothers who were obese or overweight (p<0.01), had secondary (p<0.05) or higher education (p<0.01) were less likely to provide early breastfeeding to their newborn babies compared to their counterparts. Those who delivered by caesarian-section (p<0.01) were less likely to perform EIBF while those who attended an antenatal care clinic more than 3 times (p<0.05) were more likely to do so.

    CONCLUSIONS: About half of the Bangladeshi mothers did not start breast-feeding within one hour after birth. This study identified several geographical and socio-demographic factors that were associated with EIBF, and hope that this information will help the government to focus their resources to promote early breastfeeding.

  15. Fulltext Crystal structure of 2-(1,3-dioxoindan-2-yl)iso-quinoline-1,3,4-trione
    Ghalib RM, Chidan Kumar CS, Hashim R, Sulaiman O, Fun HK
    Acta Crystallogr E Crystallogr Commun, 2015 Jan 1;71(Pt 1):o6-7.
    PMID: 25705509 DOI: 10.1107/S2056989014025997
    In the title iso-quinoline-1,3,4-trione derivative, C18H9NO5, the five-membered ring of the indane fragment adopts an envelope conformation with the nitro-gen-substituted C atom being the flap. The planes of the indane benzene ring and the iso-quinoline-1,3,4-trione ring make a dihedral angle of 82.06 (6)°. In the crystal, mol-ecules are linked into chains extending along the bc plane via C-H⋯O hydrogen-bonding inter-actions, enclosing R 2 (2)(8) and R 2 (2)(10) loops. The chains are further connected by π-π stacking inter-ations, with centroid-to-centroid distances of 3.9050 (7) Å, forming layers parallel to the b axis.
  16. Fulltext Effectiveness of an Educational Intervention in Reducing New International Postgraduates' Acculturative Stress in Malaysian Public Universities: Protocol for a Cluster Randomized Controlled Trial
    Al-Jaberi MA, Juni MH, Kadir Shahar H, Ismail SIF, Saeed MA, Ying LP
    JMIR Res Protoc, 2020 Feb 27;9(2):e12950.
    PMID: 32130180 DOI: 10.2196/12950
    BACKGROUND: Universities around the world, including Malaysia, have attracted many international students from different countries. Research has reported that acculturative stress resulting from international students' attempts to adjust to the cultures of host countries is one of the most challenging issues that affects their lives in general and academic lives in particular.

    OBJECTIVE: This study aims to examine the effectiveness of an educational intervention on acculturative stress among new postgraduate international students joining Malaysian public universities.

    METHODS: A cluster randomized controlled trial design with Malaysian public universities as the unit of randomization will be used in this study. Public universities will be randomized in a 1:1 ratio to be either in the intervention (educational program) or control group (waiting list). Participants in the intervention group will receive 7 sessions in 9 hours delivered by an expert in psychology and the researcher. The control group will receive the intervention once the 3-month follow-up evaluation is completed.

    RESULTS: The data will be analyzed using the generalized estimation equation with a confidence interval value of 95%; significant differences between and within groups are determined as P

  17. Fulltext Current state of the use of antibiotic prophylactics in cardiac surgery - correspondence
    Abdul-Rahman T, Omran MO, Ekerin O, Ghosh S, Awuah WA
    Int J Surg, 2023 Aug 01;109(8):2542-2543.
    PMID: 37158146 DOI: 10.1097/JS9.0000000000000445
  18. A Global Call for Decriminalization of Attempted Suicide
    Chan LF, Ibrahim N, Khamal NR, Panirselvam RR, Pereira EJ, Khan M
    Crisis, 2024 Nov;45(6):383-388.
    PMID: 39545401 DOI: 10.1027/0227-5910/a000974
  19. Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall
    Alauddin H, Mohamad Nasir S, Ahadon M, Raja Sabudin RZ, Ithnin A, Hussin NH, et al.
    Malays J Pathol, 2015 Dec;37(3):287-92.
    PMID: 26712677
    Haemoglobin (Hb) Lepore is a variant Hb consisting of two α-globin and two δβ-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia. Other laboratory investigations of the patients showed conflicting results. However, laboratory investigation results of the parents had led to a presumptive diagnosis of compound heterozygote Hb Lepore/β-thalassaemia and co-inheritance α+-thalassaemia (-α3.7). Hb Lepore has rarely been detected in Southeast Asian countries, particularly in Malaysia. These two cases highlight the importance of family studies for accurate diagnosis, hence appropriate clinical management and genetic counseling.
  20. Fulltext X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother
    Gill HK, Kumar HC, Cheng CK, Ming CC, Nallusamy R, Yusoff NM, et al.
    Asian Pac J Allergy Immunol, 2013 Jun;31(2):167-72.
    PMID: 23859418 DOI: 10.12932/AP0274.31.2.2013
    BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency (PID) caused by a dysfunctional respiratory burst enzyme NADPH-oxidase. The concurrence of Klinefelter’s Syndrome (KS) and CGD would be extremely rare.
    OBJECTIVE: We describe the study of a family where the youngest male child had X-linked CGD (X-CGD) while his older brother was both an X-CGD carrier and a Klinefelter.
    METHODS: Flow cytometry was used to study respiratory burst and gp91-phox expression, while genetic investigation was done by RT-PCR, PCR and X-chromosome short tandem repeat (X-STR) analysis.
    RESULTS: The Dihydrorhodamine (DHR) assay showed the patient’s neutrophils failed to produce a respiratory burst, while both the mother and an older brother showed a bimodal response. gp91-phox expression was absent in the patient’s neutrophils, and bimodal in the mother’s and brother’s neutrophils. The patient’s cDNA showed a C>T change at nucleotide 676 of the CYBB gene. The same change was seen in the patient’s gDNA, while the brother and mother were heterozygous, with C and T, in this position. The c.676C>T is a nonsense mutation that leads to premature termination of the gp91-phox protein. The brother karyotyped as 47, XXY and X chromosome analysis showed that he had inherited both his mother’s X chromosomes.
    CONCLUSIONS: This study showed that the patient had gp91-phox deficient CGD while his older brother was a CGD carrier and a Klinefelter, who had inherited both his mother’s X chromosomes. This is the first report of such a concurrence in an individual, and argues for family members to be included in PID studies.
    Key words: Chronic granulomatous disease, CYBB, gp91-phox, Klinefelter’s syndrome NADPHoxidase
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