1.Molecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta‑beta thalassemia in Malaysia
Faidatul Syazlin Abdul Hamid ; Sabariah Md Noor ; Mei I Lai ; Samsol Kamal Mohd Bahari ; Ezalia Esa ; Ermi Neiza Mohd Sahid ; Norafiza Mohd Yasin ; Yuslina Mat Yusoff
Blood Research 2025;60():51-
Purpose:
Thalassemia is a major public health concern in Southeast Asia, particularly in Malaysia, where a high carrier rate places significant pressure on healthcare systems. Hereditary Persistence of Fetal Hemoglobin (HPFH) and deltabeta (δβ) thalassemia are genetic conditions associated with elevated levels of fetal hemoglobin (Hb F). This study aimed to determine the frequency of common beta (β)-globin gene cluster deletions among Malaysian carriers of HPFH or δβ thalassemia, while also providing an overview of the thalassemia burden in the region.
Methods:
A retrospective study was conducted on 534 blood samples submitted to the Institute for Medical Research (IMR), Malaysia, for β-thalassemia genotyping between January 2017 and December 2019. Demographic data, including full blood count parameters and hemoglobin (Hb) analysis, were retrieved. Deoxyribonucleic acid (DNA) was extracted and analyzed using Multiplex Gap-Polymerase Chain Reaction (PCR) to detect large deletions in the β-globin gene cluster.
Results:
Seven distinct deletions were identified among the 534 heterozygous carriers. The two most common deletions were Gγ(Aγδβ)°-thalassemia Siriraj I (~ 118 kilobase pairs [kb]) and δβ°-thalassemia Thai (~ 12.5 kb), accounting for 30.0% and 29.8% of cases, respectively. The HPFH-6 deletion was observed in 20.0% of cases, followed by Gγ(Aγδβ)°-thalassemia Asian-Indian Inversion-Deletion (Inv/Del) (14.2%), Gγ(Aγδβ)°-thalassemia Chinese (~ 100 kb) (4.3%), HPFH-3 (0.9%), and Gγ(Aγδβ)°-thalassemia Asian (~ 49.3 kb) (0.7%). The ethnic distribution showed a predominance among Malay patients (93.4%), with specific deletions suggesting ethnic clustering. Genotype–phenotype analysis revealed notable variations in hematological parameters: carriers of HPFH-3 had the highest Hb F levels (25.3 ± 3.1%) as measured by high-performance liquid chromatography (HPLC) and showed the least severe microcytosis, while carriers of δβ°-thalassemia Thai (~ 12.5 kb) demonstrated more pronounced hematological abnormalities.Findings were consistent with previous reports from Southeast Asia, underscoring the importance of incorporating molecular diagnostics into national screening programs. Although Multiplex Gap-PCR is robust, further studies using Next-Generation Sequencing (NGS) and Multiplex Ligation-dependent Probe Amplification (MLPA) are recommended to detect rare or undetected mutations.
Conclusions
This study provides crucial data on the molecular spectrum of HPFH and δβ thalassemia in Malaysia, contributing to improved diagnostic strategies and genetic counselling. Future research should explore additional genetic variants to enhance national thalassemia prevention programs.
2.Residual efficacy of deltamethrin applied to foliage against Malaysian Aedes aegypti (L.) and Aedes albopictus (Skuse)
Mohd-Noor, S.N. ; Nur-Rasyidah, I. ; Muhammad-Iqbal, M.N. ; Nguyen, T.B.D. ; Lee, H.L. ; Nurulhusna, A.H.
Tropical Biomedicine 2021;38(No.2):165-170
The spraying of insecticide on foliage to provide an insecticidal barrier may serve as part of the vector control measures to combat the increasing threat of Aedes-borne diseases. The effectiveness of insecticide barrier spraying was evaluated by assessing the residual efficacy of deltamethrin sprayed on foliage against Malaysian Ae. aegypti (L.) and Ae. albopictus (Skuse). In this semi-field study, landscape plants grown within the vicinity of the Institute for Medical Research (IMR), Malaysia, were treated with deltamethrin suspension concentrate (SC) with the dosage of 30 mg/m2 and 50 mg/m2 in three rounds of spraying. Deltamethrin residual activity on treated and untreated leaves was investigated using standard WHO cone bioassays. Wild Aedes populations at both deltamethrin-treated and untreated plant clusters were monitored by ovitrap surveillance. Ovitrap monitoring revealed that the mean number of Ae. albopictus larvae at deltamethrin-treated were significantly lower than the mean number of larvae of the same species at the untreated plant cluster. Cone bioassay results showed that the insecticide remained effective for up to 4 weeks (> 80% mortality), but the insecticide residual activity was affected by rainfall. These results suggest that insecticide barrier spraying is a promising tool and may be used along with other mosquito control tools such as indoor residual spray and space spraying to reduce the dengue burden.
3.Maternal and neonatal effects of Acinetobacter colonisation in preterm premature rupture of membrane and term labour
Mini Sood ; Zaini Mohd-Zain ; Nor Azizah Abu ; Chee Seok Chiong ; Noor Shafina Mohd Nor
The Medical Journal of Malaysia 2019;74(1):40-44
Some anecdotal reports suggest that maternal
colonisation with Acinetobacter baumannii during
pregnancy is associated with adverse maternal and neonatal
effects, including preterm premature rupture of membrane
(PPROM). The objective of this study was to compare the
maternal and neonatal effects of A. baumannii colonisation
in cases with PPROM and those with spontaneous onset of
labour at term.
4.Colonization of Acinetobacter baumannii, Streptococcus agalactiae (GBS) and Candida albicans in preterm premature rupture of membrane (PPROM) compared to normal labor at term
Zaini Mohd-Zain ; Ofelia Yahcob ; Mini Sood ; Nor Azizah Abu ; Mohd Roslan Abdul Halim ; Noor Shafina Mohd Nor
Malaysian Journal of Microbiology 2019;15(7):560-565
Aims:
Preterm premature rupture of membrane (PPROM) is usually associated with maternal vaginal colonization of Group B Streptococci (GBS). However, there are reports on isolation of Acinetobacter baumannii in PPROM cases. In order to ascertain A. baumannii’s role in PPROM, we determine the colonization of A. baumannii and other common vaginal tract flora, i.e. GBS and Candida albicans, in women with PPROM, and compared them to those with normal labor at term (NLT). The transmissibility of the organisms to their babies was also investigated.
Methodology and results:
A total of 218 high vaginal swabs from 108 and 100 women with PPROM and NLT respectively were collected. The transmission of these organisms to their 215 babies was determined by swabbing the ears and axillae. These were cultured for isolation of A. baumannii, GBS and C. albicans. Results showed that mothers with PPROM were predominantly colonized with GBS (32.4%), followed by C. albicans (19.4%) and A. baumannii (7.4%), compared to 10.9%, 17.3% and 7.2% respectively, in women with NLT. Between 34 to 50% of the babies of mothers with PPROM acquired the organisms, with GBS being the most significantly (p=0.000) transferred compared to other organisms. Co-existence of A. baumannii with either GBS or C. albicans, or both, did not enhance the occurrence of PPROM.
Conclusion, significance and impact of study
Colonization of A. baumannii in vaginal tract of pregnant women does not increase the possibility of PPROM, as compared to GBS.
5.Phalangeal Osteosarcoma Mistaken for Tuberculosis: A Case Report
MA Mohd-Ariff ; I Ali-Noor ; AG Paul ; S Abdullah
Malaysian Orthopaedic Journal 2015;9(1):38-40
We report a 21-year old female patient who presented with
an 18-month history of a swelling in the distal phalanx of
her right little finger. Although the history, clinical features
and MRI were suggestive of a benign tumour or a
tuberculous lesion, the histo-pathological examination of the
swelling was reported as a conventional osteosarcoma.
Osteosarcoma of the hand is very rare. This article highlights
the possibility of a seemingly benign lesion seen in a routine
clinic could well turn out to be malignant, and the need to
maintain a high index of suspicion
Osteosarcoma
6.Cost Analysis Of Hypertension Management In An Urban Primary Medical Centre Kuala Lumpur
Azimatun Noor A ; Amrizal MN ; T Weng Kang ; Rafidah AR ; Y Geok Hong ; Adibah A ; Aniza I ; Sharifa Ezat WP ; Mohd Rizal AM
Malaysian Journal of Public Health Medicine 2014;14(3):18-23
Hypertension is one of the commonest health problems in Malaysia and its cases are on a rise. In conjunction with the above statement, it is predictable that the cost of healthcare services will further increase in the future. Therefore, cost study is necessary to estimate the health related economic burden of hypertension in Malaysia. A cross sectional study was carried out to quantify the direct treatment cost of hypertension. Three hundred and ninety one hypertensive patients’ data from Bandar Tasik Selatan Primary Medical Centre in year 2010 were collected and analysed. The direct treatment costs were calculated. The result showed that out of 391 hypertensive patients, 12.5% was diagnosed hypertensive without any co-morbidity, 25.3% with 1 co-morbidity dyslipidemia only; 4.3% with diabetes mellitus type 2 only; 0.5% with chronic kidney disease only and none with ischaemic heart disease. Patients with 2 co-morbidities (dyslipidemia and diabetes mellitus type 2) were 42.2%; with 3 co-morbidities (diabetes mellitus type 2, dyslipidemia and chronic kidney disease) was 4.3%. The mean cost of direct treatment of hypertension per visit/ year was RM289.42 ±196.71 with the breakdown costs for each component were medicines 72.2%, salary 14.6%, laboratory tests 5.0%, administration 4.4% and radiology tests 3.8%. Dyslipidemia is by far the commonest co-morbidity among hypertensive patients. Direct costs of treating hypertension are mostly dependent on present of co-morbidity and numbers of drugs used. Thus, the annual budget could be calculated precisely in the future especially for drugs.
7.Scanning electron microscopic evaluation of the successful sterilization of Lucilia cuprina (Wiedemann) utilized in maggot debridement therapy (mdt)
Yeong, Y.S., ; Nazni, W.A.* ; Santana, R.L. ; Mohd Noor, I. ; Lee, H.L. ; Mohd Sofian, A.
Tropical Biomedicine 2011;28(2):325-332
In Malaysia, maggot debridement therapy (MDT) utilizes maggots of Lucilia
cuprina (Wiedemann) to debride necrotic tissue from wound surface, reduce bacterial infection
and therefore, enhance wound healing process. To evaluate the sterility of the sterile maggots
produced after sterilization process before delivering onto patient wounds. Sterility of sterile
maggots is crucial in ensuring the safe usage of MDT and patient’s health. Eggs of L. cuprina
collected from a laboratory colony were divided into treated group (sterilized) and control
group (non-sterilized). Treated group underwent sterilization while eggs from control group
were allowed to hatch without sterilization. Sodium hypochlorite and formaldehyde were the
main disinfectants used in this sterilization process. Scanning electron microscope (SEM)
was used to examine and ascertain the sterility of sterile maggots. SEM results showed that
all sterilized L. cuprina eggs and maggots achieved sterility and all were cleared from
bacterial contamination. In contrast, all non-sterilized eggs and maggots were found to be
colonized by microorganisms. Sterilization method employed to sterilize eggs and maggots
used in Malaysia MDT was proven successful and MDT is safe to be used as wound management
tools.
8.Cri-du-chat Syndrome: Application of Array CGH in Diagnostic Evaluation
Zarina AL ; Juriza I ; Sharifah Azween SO ; Azli I ; Mohd Fadly MA ; Zubaidah Z ; Chia WK ; Clarence Ko CH ; Julia MI ; Khairunisa K ; Sharifah Noor Akmal SH
Medicine and Health 2010;5(2):108-113
The human genome contains many submicroscopic copy number variations which includes deletions, duplications and insertions. Although conventional karyotyping
remains an important diagnostic tool in evaluating a dysmorphic patient with mental retardation, molecular diagnostic technology such as array comparative genomic
hybridization (aCGH) has proven to be sensitive and reliable in detecting these submicroscopic anomalies. A 3 month-old infant with dysmorphic facies, microcephaly
and global developmental delay was referred for genetic evaluation. Preliminary karyotyping which was confounded by the quality of metaphase spread was normal;
however, aCGH detected a 30.6Mb deletion from 5p15.33-p13.3. This case illustrates the usefulness of aCGH as an adjunctive investigative tool for detecting chromosomal
imbalances.
9.Eurycoma longifolia extract-artemisinin combination: parasitemia suppression of Plasmodium yoelii-infected mice.
M A R Mohd Ridzuan ; A Sow ; A Noor Rain ; A Mohd Ilham ; I Zakiah
Tropical biomedicine 2007;24(1):111-8
Eurycoma longifolia, locally known as 'Tongkat Ali' is a popular local medicinal plant that possess a lot of medicinal properties as claimed traditionally, especially in the treatment of malaria. The claims have been proven scientifically on isolated compounds from the plant. The present study is to investigate the anti malaria properties of Eurycoma longifolia standardized extract (root) (TA164) alone and in combination with artemisinin in vivo. Combination treatment of the standardized extract (TA164) with artemisinin suppressed P. yoelii infection in the experimental mice. The 4 day suppressive test showed that TA164 suppressed the parasitemia of P. yoelii-infected mice as dose dependent manner (10, 30 and 60 mg/kg BW) by oral and subcutaneous treatment. By oral administration, combination of TA164 at 10, 30 and 60 mg/kg BW each with artemisinin respectively showed a significant increase in the parasitemia suppression to 63, 67 and 80 percent as compared to artemisinin single treatment (31%). Using subcutaneous administration, at 10 mg/kg BW of TA164 in combination with 1.7 mg/kg BW of artemisinin gave a suppression of 80% of infection. This study showed that combination treatment of TA164 with artemisinin gives a promising potential anti malaria candidate using both oral and subcutaneous route, the later being the most potent.
artemisinine
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Psychological suppression
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Subcutaneous
10.Antiplasmodial properties of some Malaysian medicinal plants.
A Noor Rain ; S Khozirah ; M A R Mohd Ridzuan ; B K Ong ; C Rohaya ; M Rosilawati ; I Hamdino ; Amin Badrul ; I Zakiah
Tropical biomedicine 2007;24(1):29-35
Seven Malaysian medicinal plants were screened for their antiplasmodial activities in vitro. These plants were selected based on their traditional claims for treatment or to relieve fever. The plant extracts were obtained from Forest Research Institute Malaysia (FRIM). The antiplasmodial activities were carried out using the pLDH assay to Plasmodium falciparum D10 strain (sensitive strain) while the cytotoxic activities were carried out towards Madin- Darby bovine kidney (MDBK) cells using MTT assay. The concentration of extracts used for both screening assays were from the highest concentration 64 microg/ml, two fold dilution to the lowest concentration 0.03 microg/ml. Goniothalamus macrophyllus (stem extract) showed more than 60% growth inhibition while Goniothalamus scortechinii root and stem extract showed a 90% and more than 80% growth inhibition at the last concentration tested, 0.03 microg/ml. The G. scortechini (leaves extract) showed an IC50 (50% growth inhibition) at 8.53 microg/ml, Ardisia crispa (leaves extract) demonstrated an IC50 at 5.90 +/- 0.14 microg/ml while Croton argyratus (leaves extract) showed a percentage inhibition of more than 60% at the tested concentration. Blumea balsamifera root and stem showed an IC50 at 26.25 +/- 2.47 microg/ml and 7.75 +/- 0.35 microg/ ml respectively. Agathis borneensis (leaves extract) demonstrated a 50% growth inhibition at 11.00 +/- 1.41 microg/ml. The study gives preliminary scientific evidence of these plant extracts in line with their traditional claims.
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