Displaying publications 41 - 60 of 161 in total

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  1. Corneal Hysteresis Is Reduced in Obstructive Sleep Apnea Syndrome
    Nadarajah S, Samsudin A, Ramli N, Tan CT, Mimiwati Z
    Optom Vis Sci, 2017 10;94(10):981-985.
    PMID: 28858045 DOI: 10.1097/OPX.0000000000001117
    SIGNIFICANCE: To our knowledge, this is the first time a study looking at the association between corneal hysteresis (CH) and obstructive sleep apnea syndrome (OSAS) severity has been reported. We provide evidence that CH is lower in OSAS and speculate on the possible causes.

    PURPOSE: The present study aims to look at the association between CH and severity of OSAS, and whether CH could be another link between OSAS and the development of glaucoma.

    METHODS: This was a cross-sectional, observational study at the University Malaya Medical Centre, Kuala Lumpur. Patients undergoing polysomnography for assessment of OSAS were recruited. We measured central corneal thickness (CCT) using optical biometry, and CH using ocular response analysis. Intraocular pressure (IOP) and Humphrey visual field (HVF) indices were also measured. The Apnea Hypopnea Index (AHI) divided patients into normal, mild, moderate, and severe OSAS categories. The normal and mild categories (47.9%) were then collectively called group 1, and the moderate and severe categories (52.1%) were called group 2. T tests, Pearson correlation tests, and general linear model analysis were performed, with P .05). CH correlated negatively with AHI (r = -0.229, P = .013) and positively with lowest oxygen saturation (r = 0.213, P = .022).

    CONCLUSIONS: CH is lower in moderate/severe OSAS than in normal/mild cases. This may be another link between OSAS and the development of glaucoma; further studies are indicated to determine the significance of this connection.

  2. Fulltext Corneal changes in type II diabetes mellitus in Malaysia
    Choo M, Prakash K, Samsudin A, Soong T, Ramli N, Kadir A
    Int J Ophthalmol, 2010;3(3):234-6.
    PMID: 22553561 DOI: 10.3980/j.issn.2222-3959.2010.03.12
    To compare corneal endothelial structure and central corneal thickness (CCT) between type II diabetics and non-diabetic control patients. To look for correlations between diabetic status and corneal findings.
  3. Darkroom prone provocative test in primary angle closure glaucoma relatives
    Zahari M, Ong YM, Taharin R, Ramli N
    Optom Vis Sci, 2014 Apr;91(4):459-63.
    PMID: 24637481 DOI: 10.1097/OPX.0000000000000220
    To evaluate ocular biometric parameters and darkroom prone provocative test (DPPT) in family members of primary angle closure (PAC) glaucoma (PACG) patients and to establish any correlation between these biometric parameters and the DPPT response.
  4. Delayed post-irradiation bulbar palsy in nasopharyngeal carcinoma
    Chew NK, Sim BF, Tan CT, Goh KJ, Ramli N, Umapathi P
    Neurology, 2001 Aug 14;57(3):529-31.
    PMID: 11502928
    In a hospital series of 70 patients on follow-up after radiotherapy for nasopharyngeal carcinoma, 14 patients (20%) developed delayed post-irradiation bulbar palsy 1 to 18 years after radiotherapy (mean 5.5 years). Functional disability was moderate to severe. Three patients had aspiration pneumonia with one mortality. Post-irradiation bulbar palsy was a common complication and probably resulted from direct neuronal damage.
  5. Fulltext Diagnostic Efficacy of Synthesized 2D Digital Breast Tomosynthesis in Multi-ethnic Malaysian Population
    Mumin NA, Rahmat K, Fadzli F, Ramli MT, Westerhout CJ, Ramli N, et al.
    Sci Rep, 2019 02 06;9(1):1459.
    PMID: 30728394 DOI: 10.1038/s41598-018-37451-4
    Synthesized 2D images can be reconstructed from tomosynthesis images in breast imaging. This study aims to investigate the diagnostic efficacy of synthesized 2D images (C-View) in comparison to full field digital mammography (FFDM) when used with digital breast tomosynthesis (DBT) in multi-ethnic Malaysian population. FFDM and C-View images (n = 380) were independently evaluated by three readers through Breast Imaging Reporting and Data System (BI-RADS) categorisation, breast density and lesion characterisation. Statistical analysis was done comparing sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of C-View + DBT with FFDM + DBT as standard of reference. Very good interreader agreement in BI-RADS category and density assessment between C-View + DBT and FFDM + DBT, with high sensitivity, specificity, PPV and NPV of C-View + DBT when compared with FFDM + DBT. There was comparable PPV between C-View + DBT and FFDM + DBT, with histopathology as gold standard. High level of interreader agreement in BI-RADS category and density assessment for FFDM + DBT and C-View + DBT. There was good agreement between FFDM + DBT and C-View + DBT in mass characterization, and almost perfect agreement in calcification and asymmetric density. 52.2% lower radiation dose incurred when using C-View + DBT. Hence, synthesized 2D images are comparable to FFDM with reduction in radiation dose within the limits of Malaysian multi-ethnic population.
  6. Fulltext Diagnostic accuracy of tomosynthesis-guided vacuum assisted breast biopsy of ultrasound occult lesions
    Bohan S, Ramli Hamid MT, Chan WY, Vijayananthan A, Ramli N, Kaur S, et al.
    Sci Rep, 2021 01 08;11(1):129.
    PMID: 33420200 DOI: 10.1038/s41598-020-80124-4
    This study aims to evaluate the diagnostic accuracy of digital breast tomosynthesis-guided vacuum assisted breast biopsy (DBT-VABB) of screening detected suspicious mammographic abnormalities comprising of calcifications, asymmetric densities, architectural distortions and spiculated masses. In this institutionally approved study, a total of 170 (n = 170) DBT-VABB were performed, 153 (90%) were for calcifications, 8 (4.7%) for spiculated mass, 5 (2.9%) for asymmetric density and 4 (2.4%) for architectural distortion. All these lesions were not detected on the corresponding ultrasound. Histopathology results revealed 140 (82.4%) benign, 9 (5.3%) borderline and 21 (12.4%) malignant lesions. The total upgrade rate at surgery was 40% for atypical ductal hyperplasia and 5.9% for ductal carcinoma in-situ. 3.6% discordant benign lesions showed no upgrade. DBT-VABB showed 100% specificity, 91.3% sensitivity and 100% positive predictive value (PPV) for detecting malignant lesions. The negative predictive value (NPV) was 80%. 2 (1.2%) patients had mild complications and 1 (0.6%) had severe pain. Our study showed that DBT-VABB was a safe and reliable method, with high sensitivity, specificity, PPV and NPV in the diagnosis of non-palpable benign and malignant breast lesions. Our data also confirmed the accuracy of DBT-VABB in detecting malignant lesions and we suggest further surgical excision in borderline lesions for a more accurate diagnostic evaluation.
  7. Differentiating multiple-system atrophy from Parkinson's disease
    Ramli N, Nair SR, Ramli NM, Lim SY
    Clin Radiol, 2015 May;70(5):555-64.
    PMID: 25752581 DOI: 10.1016/j.crad.2015.01.005
    The purpose of this review is to illustrate the differentiating features of multiple-system atrophy from Parkinson's disease at MRI. The various MRI sequences helpful in the differentiation will be discussed, including newer methods, such as diffusion tensor imaging, MR spectroscopy, and nuclear imaging.
  8. Fulltext Diffusion Tensor Imaging Parameters in Mild Traumatic Brain Injury and Its Correlation with Early Neuropsychological Impairment: A Longitudinal Study
    Veeramuthu V, Narayanan V, Kuo TL, Delano-Wood L, Chinna K, Bondi MW, et al.
    J Neurotrauma, 2015 Oct 1;32(19):1497-509.
    PMID: 25952562 DOI: 10.1089/neu.2014.3750
    We explored the prognostic value of diffusion tensor imaging (DTI) parameters of selected white matter (WM) tracts in predicting neuropsychological outcome, both at baseline and 6 months later, among well-characterized patients diagnosed with mild traumatic brain injury (mTBI). Sixty-one patients with mTBI (mean age=27.08; standard deviation [SD], 8.55) underwent scanning at an average of 10 h (SD, 4.26) post-trauma along with assessment of their neuropsychological performance at an average of 4.35 h (SD, 7.08) upon full Glasgow Coma Scale recovery. Results were then compared to 19 healthy control participants (mean age=29.05; SD, 5.84), both in the acute stage and 6 months post-trauma. DTI and neuropsychological measures between acute and chronic phases were compared, and significant differences emerged. Specifically, chronic-phase fractional anisotropy and radial diffusivity values showed significant group differences in the corona radiata, anterior limb of internal capsule, cingulum, superior longitudinal fasciculus, optic radiation, and genu of corpus callosum. Findings also demonstrated associations between DTI indices and neuropsychological outcome across two time points. Our results provide new evidence for the use of DTI as an imaging biomarker and indicator of WM damage occurring in the context of mTBI, and they underscore the dynamic nature of brain injury and possible biological basis of chronic neurocognitive alterations.
  9. Diphtheric encephalitis and brain neuroimaging features
    Foo JC, Rahmat K, Mumin NA, Koh MT, Gan CS, Ramli N, et al.
    J Clin Neurosci, 2017 Sep 01.
    PMID: 28867361 DOI: 10.1016/j.jocn.2017.08.024
    We report a rare case of paediatric diphtheria complicated with encephalitis. A 6-year-old boy who did not receive his scheduled diptheria-tetanus-pertusis vaccination presented with one episode of generalised convulsive seizure. His illness was preceded by a 3day history of fever associated with enlarged exudative tonsils with a pseudomembrane. He was commenced on intravenous penicillin and oral erythromycin. However, he developed progressive encephalopathy with focal neurological deficit which required intubation on day 5 of illness. Throat swab polymerase chain reaction for diphtheria toxin A and B were positive and diphtheria antitoxin was given. Magnetic resonance imaging (MRI) of brain showed T2-weighted hyperintensities over the anterior cingulate gyri, insular cortex and cerebellum. This is the first reported MRI finding of diphtheric encephalitis. Our report highlights the importance of neuroimaging in diagnosing diphtheric encephalitis particularly in cases with unremarkable cerebrospinal findings.
  10. Fulltext Does Exercise Improve Health-Related Quality of Life of Colorectal Cancer Survivors? A Systematic Review and Meta-Analysis
    Abdul Razak N, Azhar ZI, Baharuddin IH, Ismail Z, Mohd Azman ZA, Abdul Manap SA, et al.
    Asian Pac J Cancer Prev, 2024 Feb 01;25(2):379-391.
    PMID: 38415522 DOI: 10.31557/APJCP.2024.25.2.379
    INTRODUCTION: Early diagnostic and treatment advances have resulted in prolonged cancer survivorship. Therefore, exercise intervention in survivorship management is essential for enhancing cancer survivors' health-related quality of life (HRQoL).

    OBJECTIVE: The systematic review and meta-analysis in this study aimed to explore the effect of exercise intervention on health-related quality of life of colorectal cancer survivors.

    METHODS: The current study followed guidelines outlined in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 (PRISMA 2020) to identify relevant literature. Comprehensive searches were conducted using EBSCOhost, Web of Science (WOS), Scopus, Science Direct, and PubMed. The inclusion criteria included are randomised control trials studies written in English, with no restrictions for the time of publication that reported the effects of exercise intervention on health-related quality of live among colorectal cancer survivors. Meta-analysis was conducted by pooling the mean and standard deviation of post-intervention scores across randomised control trial studies using a random effects model.

    RESULT: A total of 467 articles were identified but only seven articles were randomised control trials (RCT) (n = 7) with PEDro scores ranging from 6 to 9 showing good internal validity were included in the review. The results of the meta-analysis of pooled data from six RCTs studies on HRQoL showed no significant effect of exercise intervention on HRQoL in the intervention group compared to control group [SMD = 0.25; 95% CI; -0.0, 0.51; Z = 1.88; p = 0.06; I2 = 30.8%].

    CONCLUSION: This meta-analysis provides key insights into the effect of exercise on the health-related quality of life (HRQoL) of colorectal cancer (CRC) survivors. Therefore, more experimental studies should be carried out with rigorous methodology to evaluate the effectiveness of exercise interventions before it is recommended as a routine activity in post-treatment management for CRC survivors.

  11. Fulltext Dynamics of Microbial Populations Responsible for Biodegradation during the Full-Scale Treatment of Palm Oil Mill Effluent
    Mohd-Nor D, Ramli N, Sharuddin SS, Hassan MA, Mustapha NA, Ariffin H, et al.
    Microbes Environ, 2019 Jun 27;34(2):121-128.
    PMID: 30905894 DOI: 10.1264/jsme2.ME18104
    Despite efforts to address the composition of the microbial community during the anaerobic treatment of palm oil mill effluent (POME), its composition in relation to biodegradation in the full-scale treatment system has not yet been extensively examined. Therefore, a thorough analysis of bacterial and archaeal communities was performed in the present study using MiSeq sequencing at the different stages of the POME treatment, which comprised anaerobic as well as facultative anaerobic and aerobic processes, including the mixed raw effluent (MRE), mixing pond, holding tank, and final discharge phases. Based on the results obtained, the following biodegradation processes were suggested to occur at the different treatment stages: (1) Lactobacillaceae (35.9%) dominated the first stage, which contributed to high lactic acid production; (2) the higher population of Clostridiaceae in the mixing pond (47.7%) and Prevotellaceae in the holding tank (49.7%) promoted acetic acid production; (3) the aceticlastic methanogen Methanosaetaceae (0.6-0.8%) played a role in acetic acid degradation in the open digester and closed reactor for methane generation; (4) Syntrophomonas (21.5-29.2%) appeared to be involved in the degradation of fatty acids and acetic acid by syntrophic cooperation with the hydrogenotrophic methanogen, Methanobacteriaceae (0.6-1.3%); and (5) the phenols and alcohols detected in the early phases, but not in the final discharge phase, indicated the successful degradation of lignocellulosic materials. The present results contribute to a better understanding of the biodegradation mechanisms involved in the different stages of the full-scale treatment of POME.
  12. Effect of Nocturnal Intermittent Peritoneal Dialysis on Intraocular Pressure and Anterior Segment Optical Coherence Tomography Parameters
    Chong KL, Samsudin A, Keng TC, Kamalden TA, Ramli N
    J Glaucoma, 2017 Feb;26(2):e37-e40.
    PMID: 27599172 DOI: 10.1097/IJG.0000000000000542
    PURPOSE: To evaluate the effect of nocturnal intermittent peritoneal dialysis (NIPD) on intraocular pressure (IOP) and anterior segment optical coherence tomography (ASOCT) parameters. Systemic changes associated with NIPD were also analyzed.

    METHODS: Observational study. Nonglaucomatous patients on NIPD underwent systemic and ocular assessment including mean arterial pressure (MAP), body weight, serum osmolarity, visual acuity, IOP measurement, and ASOCT within 2 hours both before and after NIPD. The Zhongshan Angle Assessment Program (ZAAP) was used to measure ASOCT parameters including anterior chamber depth, anterior chamber width, anterior chamber area, anterior chamber volume, lens vault, angle opening distance, trabecular-iris space area, and angle recess area. T tests and Pearson correlation tests were performed with P<0.05 considered statistically significant.

    RESULTS: A total of 46 eyes from 46 patients were included in the analysis. There were statistically significant reductions in IOP (-1.8±0.6 mm Hg, P=0.003), MAP (-11.9±3.1 mm Hg, P<0.001), body weight (-0.7±2.8 kg, P<0.001), and serum osmolarity (-3.4±2.0 mOsm/L, P=0.002) after NIPD. All the ASOCT parameters did not have any statistically significant changes after NIPD. There were no statistically significant correlations between the changes in IOP, MAP, body weight, and serum osmolarity (all P>0.05).

    CONCLUSIONS: NIPD results in reductions in IOP, MAP, body weight, and serum osmolarity in nonglaucomatous patients.

  13. Effect of modified Otago exercises on postural balance, fear of falling, and fall risk in older fallers with knee osteoarthritis and impaired gait and balance: A secondary analysis
    Mat S, Ng CT, Tan PJ, Ramli N, Fadzli F, Rozalli FI, et al.
    PM R, 2018 03;10(3):254-262.
    PMID: 28827207 DOI: 10.1016/j.pmrj.2017.08.405
    BACKGROUND: Osteoarthritis (OA) is considered an established risk factor for falls. Published studies evaluating secondary falls prevention strategies among individuals with OA are limited.
    OBJECTIVE: To evaluate the effect of a personalized home-based exercise program to improve postural balance, fear of falling, and falls risk in older fallers with knee OA and gait and balance problems.
    DESIGN: Randomized controlled trial.
    SETTING: University of Malaya Medical Centre.
    PARTICIPANTS: Fallers who had both radiological OA and a Timed Up and Go (TUG) score of over 13.5 seconds.
    MAIN OUTCOME MEASURE: Postural sway (composite sway) was quantified with the Modified Clinical Test of Sensory Interaction on Balance (mCTSIB) under 4 different sensory conditions: eyes open on firm surface, eyes closed on firm surface, eyes open on unstable foam surface, and eyes closed on unstable foam surface. Participants were asked to stand upright and to attempt to hold their position for 10 seconds for each test condition. The average reading for all conditions were calculated.
    METHODS: Participants randomized to the intervention arm received a home-based modified Otago Exercise Program (OEP) as part of a multifactorial intervention, whereas control participants received general health advice and conventional treatment. This was a secondary subgroup analysis from an original randomized controlled trial, the Malaysian Falls Assessment and Intervention Trial (MyFAIT) (trial registration number: ISRCTN11674947). Posturography using a long force plate balance platform (Balancemaster, NeuroCom, USA), the Knee injury and Osteoarthritis Outcome Score (KOOS) and the short-form Falls Efficacy Scale-International (short FES-I) were assessed at baseline and 6 months.
    RESULTS: Results of 41 fallers with radiological evidence of OA and impaired TUG (intervention, 17; control, 24) were available for the final analysis. Between-group analysis revealed significant improvements in the Modified Clinical Test of Sensory Interaction on Balance (mCTSIB), Limits of Stability (LOS), and short FES-I scores by the intervention group compared to the control group at 6 months. No significant difference in time to first fall or in fall-free survival between the intervention and control groups was found.

    CONCLUSION: Home-based balance and strength exercises benefited older fallers with OA and gait and balance disorders by improving postural control, with no observable trend in reduction of fall recurrence. Our findings will now inform a future, adequately powered, randomized controlled study using fall events as definitive outcomes.

    LEVEL OF EVIDENCE: I.
  14. Fulltext Extrapulmonary sarcoidosis: unusual cause of epiphora
    Ramlee N, Ramli N, Liza-Sharmini AT
    Singapore Med J, 2007 Jun;48(6):e168-70.
    PMID: 17538739
    Sarcoidosis is a multisystemic granulomatous disease of unknown aetiology mainly affecting African-Americans, Scandinavians, and the Irish. However, individuals of other races and ethnicities are still not immune. The clinical presentations vary widely with most patients having some respiratory problems. Though extrapulmonary sarcoidosis is no longer rare, sarcoidosis involving the lacrimal sac is an infrequently-reported problem. We present a case of sarcoidosis involving the lacrimal sac in a 42-year-old Malay woman who presented with epiphora. She was successfully treated with steroids and dacryocystorhinostomy. There was no evidence of systemic involvement. It is suggested that in an unusual presentation of sarcoidosis, a thorough search should be made for localisation of other sites, lungs in particular, even in the absence of respiratory complaints.
  15. Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population
    Yusoff S, Van Rostenberghe H, Yusoff NM, Talib NA, Ramli N, Ismail NZ, et al.
    Biol. Neonate, 2006;89(3):171-6.
    PMID: 16210851
    Gilbert syndrome is caused by defects in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene. These mutations differ among different populations and many of them have been found to be genetic risk factors for the development of neonatal jaundice.
  16. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
    Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, et al.
    Nat Genet, 2016 May;48(5):556-62.
    PMID: 27064256 DOI: 10.1038/ng.3540
    Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.
  17. Glaucoma severity affects diffusion tensor imaging (DTI) parameters of the optic nerve and optic radiation
    Sidek S, Ramli N, Rahmat K, Ramli NM, Abdulrahman F, Tan LK
    Eur J Radiol, 2014 Aug;83(8):1437-41.
    PMID: 24908588 DOI: 10.1016/j.ejrad.2014.05.014
    To evaluate whether MR diffusion tensor imaging (DTI) of the optic nerve and optic radiation in glaucoma patients provides parameters to discriminate between mild and severe glaucoma and to determine whether DTI derived indices correlate with retinal nerve fibre layer (RNFL) thickness.
  18. Fulltext Hemolytic disease of the fetus and newborn caused by anti-E
    Usman AS, Mustaffa R, Ramli N, Diggi SA
    Asian J Transfus Sci, 2013 Jan;7(1):84-5.
    PMID: 23559775 DOI: 10.4103/0973-6247.106750
    OBJECTIVE: Maternal allo-antibody production is stimulated when fetal red blood cells are positive for an antigen absent on the mother's red cells. The maternal IgG antibodies produced will pass through the placenta and attack fetal red cells carrying the corresponding antigen. Allo-immune hemolytic disease of the fetus and newborn caused by anti-E rarely occurs.

    CASE SUMMARY: We report two cases of anti-E hemolytic diseases in neonates. One of the neonates had severe hemolysis presenting with severe anemia, thrombocytopenia, and conjugated hyperbilirubinemia, while the other had moderate anemia and unconjugated hyperbilrubinemia. Although both the neonates were treated by phototherapy and intravenous immunoglobulin, one of them received double volume exchange transfusion.

    CONCLUSION: There appeared to be an increase in the occurrence of hemolytic disease of the fetus and newborn caused by Rh antibodies other than anti-D. In this case report, both patients presented with anemia and hyperbilirubinemia but were successfully treated, with a favorable outcome.

  19. Fulltext Herpes zoster keratouveitis with hypopyon and hyphema
    Katherine SBH, Ngim YS, Juliana J, Ramli N
    Taiwan J Ophthalmol, 2020 03 04;10(1):54-57.
    PMID: 32309125 DOI: 10.4103/tjo.tjo_20_18
    This study aims to report two cases with an uncommon, early manifestation of herpes zoster ophthalmicus which is keratouveitis. The first patient is a 61-year-old female who had presented with painful facial skin eruption and right eye redness without impairment of vision. She was treated initially as herpes zoster blepharoconjunctivitis; however, the disease had progressed to neurotrophic keratitis with severe anterior chamber reaction manifested by a mixture of hypopyon and hyphema. The second patient is a 74-year-old female who had presented after 2 weeks of facial skin eruption with blurring of vision and similar keratouveitic manifestations. Both patients had poor visual outcome due to severe ocular inflammation.
  20. Fulltext High resolution melting analysis of the NR1I3 genetic variants: Is there an association with neonatal hyperbilirubinemia?
    Cheung TP, Van Rostenberghe H, Ismail R, Nawawi NN, Abdullah NA, Ramli N, et al.
    Gene, 2015 Dec 1;573(2):198-204.
    PMID: 26188155 DOI: 10.1016/j.gene.2015.07.045
    Constitutive androstane receptor (CAR) encoded by the nuclear receptor subfamily 1, group I, member 3 (NR1I3) gene regulates the elimination of bilirubin through activating the components of the bilirubin clearance pathway. Hence, NR1I3 genetic variants may affect bilirubin metabolism and result in neonatal hyperbilirubinemia. Thus far, research which investigates the association between NR1I3 variants and neonatal hyperbilirubinemia has not been undertaken in any population. The present study aimed to evaluate the influence of MPJ6_1I3008 (rs10157822), IVS8+116T>G (rs4073054) and 540A>G (rs2307424) on neonatal hyperbilirubinemia development in the Malay population. Buccal swabs were collected from 232 hyperbilirubinemia and 277 control term newborns with gestational age ≥37weeks and birth weight ≥2500g. The NR1I3 variants were genotyped by using high resolution melting (HRM) assays and verified by DNA sequencing. Gender, mode of delivery and birth weight did not differ between hyperbilirubinemia and control groups. The genotypic and allelic frequencies of MPJ6_1I3008, IVS8+116T>G and 540A>G were not significantly different between the groups. However, stratification by gender revealed a significant inverse association between homozygous variant genotype of MPJ6_1I3008 and risk of neonatal hyperbilirubinemia in the females (OR, 0.44; 95% CI, 0.20-0.95; p=0.034). This study demonstrates that the homozygous variant genotype of MPJ6_1I3008 was associated with a significant reduced risk of neonatal hyperbilirubinemia in the females.
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