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Fulltext Calcifying Epithelial Odontogenic Tumour - Case Report And Review Of The Literature

Khoo, Suan Phaik, Jalil, N., Yaacob, H.B.

Ann Dent, 1997;4(1):-.
MyJurnal

The calcifying epithelial odontogenic tumour (CEOT) is a rare benign odontogenic neoplasm which was first described by Pindborg in 1955. It accounts for less than 1% of all odontogenic lesions. A case of CEOT which presented together with cardiac abnomlalities is presented here and the literature of CEOT is reviewed.
Fulltext Pattern of calcification on CT and FDG-PET of a rare perineural mantle cell lymphoma: a potential of non-histological imaging marker

Fathinul Fikri, A.S., Ramdave Shakher, Abdul Jalil, N.

Pertanika Journal of Science & Technology, 2016;24(2):397-401.
MyJurnal

The presence of calcification in a particular FDG-avid soft tissue lesion may at times present uncertainty
regarding the clinical course of the disease pathology. Calcific deposits are not specific for either benign
or malignant aetiologies (Brant et al., 2010). Altered glucose metabolism with associated calcification
may underpin underlying aggressive pathophysiology with necrosis as sequelae. Mantle Cell Lymphoma
(MCL) is a subtype of non-Hodgkin’s lymphoma. It is a rare B-cell NHL that is prevalent in men over
the age of 60. The disease may be aggressive but it can also behave in a more indolent fashion in some
patients. MCL comprises about 5% of all NHLs. The disease is called Mantle Cell Lymphoma because the
tumour cells originally come from the ‘mantle zone’ of the lymph node (Zhou et al., 2004). Pretreatment
Hodgkin’s lymphoma with calcification may masquerade as other second primary pathologies, e.g.
extraosseous osteosarcoma or myositis ossificans (Apter et al., 2002; Korek-Amorosa et al., 1974). A
calcified perineural lymphoma prior to treatment is exceedingly rare and calcification usually occurs
one to five years after chemotherapy or radiation therapy with an incidence of 2% (Apter et al., 2002).
This case documents how the manifestation of a rare malignant perineural mantle cell lymphoma may
be indistinguishable from other pathological entities based on its pattern of distribution in a combined
FDG- PET-CT study.
The dental identification of victims of an aircraft accident in Malaysia

Nambiar P, Jalil N, Singh B

Int Dent J, 1997 Feb;47(1):9-15.
PMID: 9448783

On 15 September 1995 a Malaysian Airlines (MAS) Fokker 50 plane plunged while descending and crashed, killing thirty-four passengers aboard. The dental disaster victim identification team comprising dental surgeons from the Dental faculty, University of Malaya; Ministry of Health, Sabah; and the Malaysian Defence Forces played an active role in the identification process. Most of the bodies were badly mutilated, disfigured and severely incinerated. Problems were encountered due to inadequate facilities and space at the mortuary. Difficulties were also encountered during the procurement and deciphering of information from dental records. This disaster has however created greater awareness amongst Malaysians of the important role of forensic odontology in mass disasters.
Fulltext 18F-FDG-PET CT features of colo-colic intussusceptions in patient with colonic carcinoma

Fathinul Fikri, A.S., Noraini Sarina, A., Shahrin, S., Abdul Jalil, N.

Pertanika Journal of Science & Technology, 2016;24(2):393-396.
MyJurnal

Colo-colic intussusception is a rare manifestation of a primary tumour in an adult patient. This article
aims to document the rarity of colo-colic intussusception features on the 18 FDG- PET-CT in a patient
with primary colonic carcinoma. An 18 FDG-PET-CT was performed for the purpose of pretreatment
staging of a colonic carcinoma in a 61-year-old man following a diagnostic colosnoscopic biopsy. He
presented with abdominal distension and peri-rectal bleeding for a month. The fused 18 F-FDG PET-CT
image revealed an FDG-avid mass in the left hemicolon showing a rim of FDG avidity denoting the head
of intussusceptum. There are also multiple FDG-avid nodules seen along the anti-mesenteric colonic fat
suspicious for lymph nodes metastasis. Debulking of tumour revealed a mucinous adenocarcinoma of
colon with a metastatic lymph node. 18 FDG PET-CT features of intussusception in colonic carcinoma
have never been described before. It can potentially become a preferred diagnostic tool in delineating a
potential tumour mass within the intussusceptions that help improve prognosis in patients with malignancy.
Fulltext 18F-FDG positron emission tomography/computed tomography and the "underground map" appearance in imaging Horton's arteritis

Abdul Jalil N, Abdul Rahim N, Md Shalleh N, Rossetti C

Singapore Med J, 2008 Jul;49(7):e178-82.
PMID: 18695852

A majority of the clinical use of positron emission tomography (PET)-computed tomography (CT) is related to cancer management. Its application in evaluating inflammatory diseases and pyrexia of unknown origin is becoming popular. We reviewed the fluorine-18-fluorodeoxyglucose PET-CT findings of an 80-year-old woman with nonspecific clinical presentation consisting of generalised malaise, moderately high fever and weight loss. Prior CT and magnetic resonance imaging were not helpful in providing a clinical diagnosis. The diagnosis was Horton's arteritis, and the patient responded well to high-dose steroids.
Plexiform granular cell odontogenic tumor: unicystic variant

Siar CH, Ng KH, Jalil NA

Oral Surg. Oral Med. Oral Pathol., 1991 Jul;72(1):82-5.
PMID: 1891247

Plexiform granular cell odontogenic tumor of the mandible has recently been described. The cardinal histopathologic feature, as its name suggests, is a monophasic plexiform pattern of granular cells; the principal tumor in the differential diagnosis is granular cell ameloblastoma. Unlike the two previously reported cases of plexiform granular cell odontogenic tumor, which occurred as solid tumors in elderly men, the lesion reported here is a unicystic variant occurring in a middle-aged woman.
Fulltext Scalene myofascial pain syndrome mimicking cervical disc prolapse: a report of two cases

Abd Jalil N, Awang MS, Omar M

Malays J Med Sci, 2010 Jan;17(1):60-6.
PMID: 22135529 MyJurnal

Scalene myofascial pain syndrome is a regional pain syndrome wherein pain originates over the neck area and radiates down to the arm. This condition may present as primary or secondary to underlying cervical pathology. Although scalene myofascial pain syndrome is a well known medical entity, it is often misdiagnosed as being some other neck pain associated with radiculopathy, such as cervical disc prolapse, cervical spinal stenosis and thoracic outlet syndrome. Because scalene myofascial pain syndrome mimics cervical radiculopathy, this condition often leads to mismanagement, which can, in turn, result in persistent pain and suffering. In the worst-case scenarios, patients may be subjected to unjustifiable surgical intervention. Because the clinical findings in scalene myofascial pain syndrome are "pathognomonic", clinicians should be aware of ways to recognize this disorder and be able to differentiate it from other conditions that present with neck pain and rediculopathy. We present two cases of unilateral scalene myofascial pain syndrome that significantly impaired the patients' functioning and quality of life. This case report serves to create awareness about the existence of the syndrome and to highlight the potential morbidity due to clinical misdiagnosis.
Relapse of B-cell acute lymphoblastic leukaemia presenting as right aural polyp with facial and mandibular nerves palsy

Shiun Chuen C, Md Daud MK, Che Jalil NA, Hazmi H

Med J Malaysia, 2017 10;72(5):318-320.
PMID: 29197892 MyJurnal

A patient presenting with an ear polyp is a common finding in otorhinolaryngology practice. The common causes include chronic otitis media and cholesteatoma. We report an adult female patient with a history of acute leukaemia presenting with chronic otitis media symptoms and right ear polyp. She was subsequently diagnosed as relapse of B-cell acute lymphoblastic leukaemia based on histopathological examination. The presentation may be similar to an inflammatory pathology of the middle ear, making it misleading.
Fulltext Retrospective review of outcomes of a multimodal chronic pain service in a major teaching hospital: a preliminary experience in universiti sains malaysia

Abdul Jalil N, Sulaiman Z, Awang MS, Omar M

Malays J Med Sci, 2009 Oct;16(4):55-65.
PMID: 22135513

Chronic pain is a common medical issue. Beside chronic devastating pain, patients also suffer dysfunction more generally, including in the physical, emotional, social, recreational, vocational, financial, and legal spheres. Integrated multidisciplinary and multimodal chronic pain management programmes offer clear evidence for relief of suffering and return to functional lifestyles.
Combined effects of isothiocyanate intake, glutathione S-transferase polymorphisms and risk habits for age of oral squamous cell carcinoma development

Karen-Ng LP, Marhazlinda J, Rahman ZA, Yang YH, Jalil N, Cheong SC, et al.

Asian Pac J Cancer Prev, 2011;12(5):1161-6.
PMID: 21875259

Dietary isothiocyanates (ITCs) found in cruciferous vegetables (Brassica spp.) has been reported to reduce cancer risk by inducing phase II conjugating enzymes, in particular glutathione S-transferases (GSTs). This case-control study was aimed at determining associations between dietary ITCs, GSTs polymorphisms and risk habits (cigarette smoking, alcohol drinking and betel-quid chewing) with oral cancer in 115 cases and 116 controls. Information on dietary ITC intake from cruciferous vegetables was collected via a semi-quantitative food frequency questionnaire (FFQ). Peripheral blood lymphocytes were obtained for genotyping of GSTM1, GSTT1 and GSTP1 using PCR multiplex and PCR-RFLP. Chi-square and logistic regression were performed to determine the association of ITC and GSTs polymorphism and risk of oral cancer. When dietary ITC was categorized into high (greater than/equal to median) and low (less than median) intake, there was no significant difference between cases and control group. Logistic regression yielding odd ratios resulted in no significant association between dietary ITC intake, GSTM1, GSTT1 or GSTP1 genotypes with oral cancer risk overall. However, GSTP1 wild-type genotype was associated with later disease onset in women above 55 years of age (p= 0.017). Among the men above 45 years of age, there was clinical significant difference of 17 years in the age of onset of oral cancer between GSTP1 wild-type + low ITC intake and GSTP1 polymorphism + high ITC intake (p= 0.001). Similar conditions were also seen among men above 45 years of age with risk habits like drinking and chewing as the earlier disease onset associated with GSTP1 polymorphism and high ITC intake (p< 0.001). This study suggests that combination effects between dietary ITCs, GSTP1 polymorphism and risk habits may be associated with the risk of oral cancer and modulate the age of disease onset.
Fulltext Evaluation of Glucose-6-Phosphate Dehydrogenase stability in stored blood samples

Jalil N, Azma RZ, Mohamed E, Ithnin A, Alauddin H, Baya SN, et al.

EXCLI J, 2016;15:155-62.
PMID: 27103895 DOI: 10.17179/excli2015-604

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the commonest cause of neonatal jaundice in Malaysia. Recently, OSMMR2000-D G6PD Assay Kit has been introduced to quantitate the level of G6PD activity in newborns delivered in Universiti Kebangsaan Malaysia Medical Centre (UKMMC). As duration of sample storage prior to analysis is one of the matters of concern, this study was conducted to identify the stability of G6PD enzyme during storage. A total of 188 cord blood samples from normal term newborns delivered at UKMMC were selected for this study. The cord bloods samples were collected in ethylene-diamine-tetra-acetic acid (EDTA) tubes and refrigerated at 2-8 °C. In addition, 32 out of 188 cord blood samples were spotted on chromatography paper, air-dried and stored at room temperature. G6PD enzyme activities were measured daily for 7 days using the OSMMR2000-D G6PD Assay Kit on both the EDTA blood and dried blood samples. The mean value for G6PD activity was compared between days of analysis using Student Paired T-Test. In this study, 172 out of 188 cord blood samples showed normal enzyme levels while 16 had levels corresponding to severe enzyme deficiency. The daily mean G6PD activity for EDTA blood samples of newborns with normal G6PD activity showed a significant drop on the fourth day of storage (p < 0.005) while for samples with severely deficient G6PD activity, significant drop was seen on third day of storage (p = 0.002). Analysis of dried cord blood showed a significant reduction in enzyme activity as early as the second day of storage (p = 0.001). It was also noted that mean G6PD activity for spotted blood samples were lower compared to those in EDTA tubes for all days (p = 0.001). Thus, EDTA blood samples stored at 2-8 °C appeared to have better stability in terms of their G6PD enzyme level as compared to dried blood samples on filter paper, giving a storage time of up to 3 days.
Expression of IGFBP-rP1 in ovarian and breast cancers in association with diabetes mellitus status

Mohd Nafi SN, Siti Azrin AH, Mat Zin AA, Othman NH, Che Jalil NA

Malays J Pathol, 2019 Apr;41(1):33-39.
PMID: 31025635

INTRODUCTION: Insulin-like growth factor binding protein-related protein 1 (IGFBP-rP1) is an important component of the IGF system that regulates insulin resistance-related to tumour development. The aim of this study is to investigate the expression of IGFBP-rP1 among female cancer patients who are known or not known to have Type 2 Diabetes Mellitus (T2DM).
MATERIALS AND METHODS: Using a cross-sectional design, cases of ovarian and breast cancer with clinical status of T2DM were selected over a 10-year period in Hospital Universiti Sains Malaysia. Immunohistochemical staining for IGFBP-rP1 was performed on paraffin-embedded tissues and the results were correlated with the patient's demographic and clinicopathological data.
RESULTS: A total of 152 breast cancer patients were recruited into the current study with 33.5% (51/152) patients were positive T2DM. Most of the breast cancer patients with T2DM were IGFBP-rP1-negative (66.7%, 34/51). The IGFBP-rP1 expression was significantly difference between breast cancer subjects with and without T2DM (p<0.001). There was no significant association of IGFBP-rP1 expression with data on the demographic and clinicopathological profiles of patients with breast cancer. Meanwhile, positive IGFBP-rP1 expression was evident in 44 out of 108 (40.74%) ovarian cancer cases. Among these cases, 36 were T2DM. In contrast to breast cancer cases, IGFBP-rP1 was mostly expressed among ovarian cancer patients with T2DM (66.7%, 24/36, p < 0.001). However, the -positive expression was not significantly associated with any sociodemographic and clinicopathological features of ovarian cancers.
CONCLUSIONS: Majority of breast cancer patients with T2DM did not express IGFBP-rP1. In contrast, majority of the ovarian cancer patients with T2DM expressed IGFBP-rP1.
Siriraj I Gγ(Aγδβ)0-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation

Wong YY, Alauddin H, Raja Sabudin RZA, Ithnin A, Jalil N, Abdul Latiff Z, et al.

Malays J Pathol, 2021 Apr;43(1):95-100.
PMID: 33903312

The Siriraj I Gγ(Aγδβ)0-thalassaemia is a novel mutation involving a 118kb deletion of the β-globin gene cluster. It was first reported in 2012 in two unrelated families from the southern part of Thailand. The carriers in the heterozygous state are clinically asymptomatic. Nonetheless, its complex interaction with other β-thalassaemia could give rise to different clinical phenotypes, ranging from mild thalassaemia intermedia to thalassaemia major. We report here a case of a six-year-old Malay boy, presented with pallor, growth failure and hepatosplenomegaly. His haemoglobin at presentation was 9.2g/dL with a mean cell haemoglobin of 22.6pg and a mean cell volume of 69.9fl. His peripheral blood smear showed features of thalassaemia intermedia. Haemoglobin (Hb) analysis revealed markedly raised Hb F (83%), normal HbA2 levels and absent HbA. Deoxyribonucleic acid (DNA) analysis showed compound heterozygous IVS1-1 (G→T) β-globin gene mutation and Siriraj I Gγ(Aγδβ)0-deletion (genotype βIVS1-1/ β Siriraj I deletion). Both his father and elder sister are carriers of Siriraj I Gγ(Aγδβ)0-thalassaemia while his mother carries IVS1-1 (G→T) gene mutation. Clinically, the patient is transfusion dependent on six weekly regime. To the best of our knowledge, this is the first reported case in Malaysia involving unique Siriraj I Gγ(Aγδβ)0-thalassaemia and IVS1-1 (G→T) in a compound heterozygous state. In summary, detection of Siriraj I Gγ(Aγδβ)0-thalassaemia is essential as this deletion can lead to severe disease upon interaction with a β-thalassemia point mutation as demonstrated in our case. The establishment of effective carrier screening and genetic counselling is important to prevent its adverse consequences.
H396P mutation in chronic myeloid leukaemia patient on nilotinib - A case report

Jamali NS, Raja Sabudin RZA, Alauddin H, Ithnin A, Tumian NR, Jalil N, et al.

Malays J Pathol, 2021 Apr;43(1):63-68.
PMID: 33903307

INTRODUCTION: The advent of BCR-ABL1-targeted therapy with the tyrosine kinase inhibitor (TKI), for example, imatinib and nilotinib, marked a turning point in the therapy of chronic myeloid leukaemia (CML). However, a substantial proportion of patients experience primary or secondary disease resistance to TKI. There are multifactorial causes contributing to the treatment failure of which BCR-ABL1 kinase domain mutation being the most common. Here, we describe a case of a CML patient with H396P mutation following treatment with nilotinib.
CASE: A 60-year-old woman presented with abdominal discomfort and hyperleukocytosis. She was diagnosed as CML in the chronic phase with positive BCR-ABL1 transcripts. Due to the failure to obtain an optimal response with imatinib treatment, it was switched to nilotinib. She responded well to nilotinib initially and achieved complete haematological and cytogenetic responses, with undetectable BCR-ABL1 transcripts. However, in 4 years she developed molecular relapse. Mutation analysis which was done 70 months after commencement of nilotinib showed the presence of BCRABL1 kinase domain mutation with nucleotide substitution at position 1187 from Histidine(H) to Proline(P) (H396P). Currently, she is on nilotinib 400mg twice daily. Her latest molecular analysis showed the presence of residual BCR-ABL1 transcripts at 0.22%.
DISCUSSION/CONCLUSION: This case illustrates the importance of BCR-ABL1 mutation analysis in CML patients with persistent BCR-ABL1 positivity in spite of treatment. Early detection and identification of the type of BCRABL1 mutation are important to guide appropriate treatment options as different mutation will have different sensitivity to TKI.
Metastatic leiomyosarcoma of the thyroid: A rare entity

Che Jalil NA, Rama Chandran P, Samsudin AHZ, Yahya MM, Wan Abdul Rahman WF

Malays J Pathol, 2021 Apr;43(1):69-73.
PMID: 33903308

Cancer metastasis to the thyroid gland from non-thyroid sites is a rare presentation in clinical practice. The most frequent primary cancers that metastasise to the thyroid are renal cell carcinoma, followed by colorectal, lung and breast. We report a case of a 64-year-old Malay lady who presented with anterior neck swelling 4 years after an initial diagnosis of uterine leiomyosarcoma. She had undergone a hysterectomy procedure four years ago. Fine needle aspiration cytology of the thyroid mass suggested undifferentiated thyroid carcinoma. After multi-disciplinary discussion, the patient underwent thyroidectomy and the final histopathological diagnosis was metastatic leiomyosarcoma of the thyroid. The diagnosis was aided by an immunohistochemistry panel of positive myogenic markers, negative epithelial markers as well as the previous medical history of uterine leiomyosarcoma. Metastatic leiomyosarcoma of the thyroid may mimic primary undifferentiated (anaplastic) thyroid carcinoma (UTC) with a sarcomatoid pattern, medullary thyroid carcinoma (MTC) with spindle cells morphology and spindle cell tumour with thymus-like differentiation (SETTLE). Hence, a multidisciplinary approach must be practised by pathologists, surgeons and radiologists to consider metastatic lesions of the thyroid gland, especially when a previous history of cancer exists or is suspected.
Fulltext PET-CT as an effective imaging modality in the staging and follow-up of post-transplant lymphoproliferative disorder following solid organ transplantation

Noraini AR, Gay E, Ferrara C, Ravelli E, Mancini V, Morra E, et al.

Singapore Med J, 2009 Dec;50(12):1189-95.
PMID: 20087557

To establish the role of positron-emission tomography (PET)-computed tomography (CT) in post-transplant lymphoproliferative disorder (PTLD) patients, compared to conventional imaging (ultrasonography/CT/magnetic resonance imaging) in relation to its accuracy, sensitivity and specificity.
Fulltext Outcome of trabeculectomy in hospital Melaka, Malaysia

Heng Hah M, Norliza Raja Omar R, Jalaluddin J, Fadzillah Abd Jalil N, Selvathurai A

Int J Ophthalmol, 2012;5(3):384-8.
PMID: 22773993 DOI: 10.3980/j.issn.2222-3959.2012.03.26

AIM: To study the success and outcome of trabeculectomy in Hospital Melaka.
METHODS: Medical records of all patients who underwent trabeculectomy between January 1, 2007 and October 31, 2010 whom were followed up for at least 6 months postoperatively in Hospital Melaka were retrospectively reviewed.
RESULTS: A total number of 117 eyes of 91 patients with the age range between 12 to 84 years underwent primary trabeculectomy (n=20, 17.1%), combine trabeculectomy with cataract surgery (n=90, 76.9%), repeat trabeculectomy (n=5, 4.3%), and combine repeat trabeculectomy with cataract surgery (n=2, 1.7%). The disease spectrum includes primary open-angle glaucoma (POAG) (54 patients, 59.3%), priamry angle-closure glaucoma (PACG) (14 patients, 15.4%), secondary glaucomas (19 patients, 20.9%) and juvenile glaucomas (4 patients, 4.4%). Preoperative mean intraocular pressure (IOP) was (24.69±8.67)mmHg as compared to postoperative mean IOP of (15.81±6.66)mmHg, (15.07±4.72)mmHg and (15.68 ±3.65)mmHg at 6-month, 12-month and 24-month respectively. Eighty-two point one percent of eyes (n=96) achieved complete success (CS), 12.8% (n=15) with qualified success (QS) and only 5.1% (n=6) failed at 6 month with two of them warrant other filtering surgery. At twelve months, trabeculectomy with CS was 71.6% (n=63), QS in 22.7% (n=20) and failure in 5.7% (n=5). Sixty-seven point five percent (n=27) attained CS, 20.0% (n=8) with QS while 12.5% (n=5) failed at 24 month postoperative.
CONCLUSION: As the understanding of the lower the IOP, the better the patients retaining the visual function, trabeculectomy is significantly a choice of treatment in uncontrolled glaucoma. This study concluded that trabeculectomy performed in Hospital Melaka has produced significant success as compared to other studies.
KEYWORDS: glaucoma; success rate; trabeculectomy
A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia

Alauddin H, Kamarudin K, Loong TY, Azma RZ, Ithnin A, Jalil N, et al.

Hemoglobin, 2018 Jul;42(4):247-251.
PMID: 30623696 DOI: 10.1080/03630269.2018.1528985

Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in activation of a cryptic splice site as well as a frameshift mutation. Hb Adana [HBA2: c.179G>A (or HBA1)] is a highly unstable variant hemoglobin (Hb) resulting from a mutation at codon 59 on the HBA2 or HBA1 gene, recognized to cause severe α-thalassemia (α-thal) syndromes. We report a unique case of compound heterozygosity for these two mutations in a 9-year-old boy who presented with a Hb level of 5.3 g/dL and hepatomegaly at the age of 15 months. He required regular blood transfusions in view of a Hb level of <7.0 g/dL and failure to thrive. He had thalassemic red cell indices and peripheral blood film. The Hb electrophoresis only showed a raised Hb F level (3.3%) and a pre run peak but the Hb H inclusion test was negative. His father had thalassemic red cell indices but a normal Hb level. His mother had almost normal Hb levels and red cell indices. Hb Adana involving the HBA2 gene was detected by mutiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) in the proband and his father. DNA sequencing of the HBA2 gene confirmed the IVS-I-1 mutation in the proband and his mother. This case highlighted the unique interaction of the IVS-I-1 mutation with Hb Adana in a young Malay boy presenting with transfusion-dependent α-thal.
Genetic Modifiers of Fetal Haemoglobin (HbF) and Phenotypic Severity in β-Thalassemia Patients

Razak SAA, Murad NAA, Masra F, Chong DLS, Abdullah N, Jalil N, et al.

Curr Mol Med, 2018;18(5):295-305.
PMID: 30289070 DOI: 10.2174/1566524018666181004121604

BACKGROUND: The phenotypic severity of β-thalassemia is highly modulated by three genetic modifiers: β-globin (HBB) mutations, co-inheritance of α-thalassemia and polymorphisms in the genes associated with fetal haemoglobin (HbF) production. This study was aimed to evaluate the effect of HbF related polymorphisms mainly in the HBB cluster, BCL11A (B-cell CLL/lymphoma 11A) and HBS1L-MYB (HBS1-like translational GTPase-MYB protooncogene, transcription factor) with regards to clinical severity.
METHODS: A total of 149 patients were included in the study. HBA and HBB mutations were characterised using multiplex PCR, Sanger sequencing and multiplex ligationdependent probe amplification. In addition, 35 HbF polymorphisms were genotyped using mass spectrometry and PCR-restriction fragment length polymorphism (PCRRFLP). The genotype-phenotype association was analysed using SPSS version 22.
RESULTS: Twenty-one HBB mutations were identified in the study population. Patients with HBB mutations had heterogeneous phenotypic severity due to the presence of other secondary modifiers. Co-inheritance of α-thalassemia (n = 12) alleviated disease severity of β-thalassemia. In addition, three polymorphisms (HBS1LMYB, rs4895441 [P = 0.008, odds ratio (OR) = 0.38 (0.18, 0.78)], rs9376092 [P = 0.030, OR = 0.36 (0.14, 0.90)]; and olfactory receptor [OR51B2] rs6578605 [P = 0.018, OR = 0.52 (0.31, 0.89)]) were associated with phenotypic severity. Secondary analysis of the association between single-nucleotide polymorphisms with HbF levels revealed three nominally significant SNPs: rs6934903, rs9376095 and rs9494149 in HBS1L-MYB.
CONCLUSION: This study revealed 3 types of HbF polymorphisms that play an important role in ameliorating disease severity of β-thalassemia patients which may be useful as a predictive marker in clinical management.
High serum level of retinol and α-tocopherol affords protection against oral cancer in a multiethnic population

Athirajan V, Razak IA, Thurairajah N, Ghani WM, Ching HN, Yang YH, et al.

Asian Pac J Cancer Prev, 2014;15(19):8183-9.
PMID: 25339003

BACKGROUND: A comparative cross-sectional study involving oral cancer patients and healthy individuals was designed to investigate associations between retinol, α-tocopherol and β-carotene with the risk of oral cancer.
MATERIALS AND METHODS: This study included a total of 240 matched cases and controls where subjects were selected from the Malaysian Oral Cancer Database and Tissue Bank System (MOCDTBS). Retinol, α-tocopherol and β-carotene levels and intake were examined by high-performance liquid chromatography (HPLC) and food frequency questionnaire (FFQ) respectively.
RESULTS: It was found that results from the two methods applied did not correlate, so that further analysis was done using the HPLC method utilising blood serum. Serum levels of retinol and α-tocopherol among cases (0.177±0.081, 1.649±1.670μg/ml) were significantly lower than in controls (0.264±0.137, 3.225±2.054μg/ml) (p<0.005). Although serum level of β-carotene among cases (0.106±0.159 μg/ml) were lower compared to controls (0.134±0.131μg/ml), statistical significance was not observed. Logistic regression analysis showed that high serum level of retinol (OR=0.501, 95% CI=0.254-0.992, p<0.05) and α-tocopherol (OR=0.184, 95% CI=0.091-0.370, p<0.05) was significantly related to lower risk of oral cancer, whereas no relationship was observed between β-carotene and oral cancer risk.
CONCLUSIONS: High serum levels of retinol and α-tocopherol confer protection against oral cancer risk.

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