Introduction: Current prognostic markers have improved survival prediction, however, it has not
advanced treatment strategies. Gene expression profiling may identify biological markers suitable as
therapeutic targets. Leukaemia stem cell is associated with adverse outcome, however, its biological
characteristics are still being investigated. We observed higher in vitro cell viability in acute myeloid
leukaemia (AML) samples with poor prognosis, which may be stem cell related. Objective: The
objective of this study was to profile highly expressed genes in an AML sample of poor prognosis/high
viability and compare with a sample of good prognosis/low viability. Method: Subtractive hybridization
was performed on two AML samples with high blast counts (>80%), a poor prognosis, PP (disease free
survival, DFS12 months) sample. The PP sample had
higher CD34+ counts (73% vs 46%) and higher cell viability than the GP sample. cDNA libraries were
subsequently cloned and sequenced. Results: cDNA subtracted from the PP samples was identified
as genes active during fetal/embryonic development (LCOR, CNOT1, ORMDL1), HOX- related genes
(HOXA3, PBX3, SF3B1), hematopoiesis (SELL, IL-3RA) and aerobic glycolysis/hypoxia (PGK1,
HIGD1A) -associated genes. Majority of GP clones isolated contained genes involved in oxidative
phosphorylation, OXPHOS (COXs, ATPs, MTND4 and MTRNR2), protein synthesis (including
ribosomal proteins, initiating and elongation factors), chromatin remodeling (H2AFZ, PTMA), cell
motility (MALAT1, CALM2, TMSB4X), and mitochondria (HSPA9, MPO) genes. Conclusion: Thus,
the PP sample exhibited stem cell-like features while the GP sample showed cells at a high level of cell
activity. These genes are potential prognostic markers and targets for therapy.
Introduction: The phenotype and genotype of cancer cells portray hallmarks of cancer which may
have clinical value. Cancer cell lines are ideal models to study and confirm these characteristics. We
previously established two subtracted cDNA libraries with differentially expressed genes from an
acute myeloid leukaemia patient with poor prognosis (PP) and good prognosis (GP). Objective: To
compare gene expression of the leukaemia associated genes with selected biological characteristics
in leukaemia cell lines and normal controls. Methodology: Expression of 28 PP genes associated
with early fetal/embryonic development, HOX-related genes, hematopoiesis and aerobic glycolysis/
hypoxia genes and 36 GP genes involved in oxidative phosphorylation, protein synthesis, chromatin
remodelling and cell motility were examined in B-lymphoid (BV173, Reh and RS4;11) and myeloid
(HL-60, K562) leukaemia cell lines after 72h in culture as well as peripheral blood mononuclear cells
from healthy controls (N=5) using semi-quantitative polymerase chain reaction (PCR) method. Cell
cycle profiles were analysed on flow cytometry while MTT cytotoxicity assay was used to determine
drug resistance to epirubicin. Results: Genes expressed significantly higher in B-lymphoid leukaemia
cell lines compared to healthy controls were mostly of the GP library i.e. oxidative phosphorylation
(3/10), protein synthesis (4/11), chromatin remodelling (3/3) and actin cytoskeleton genes (1/5). Only
two genes with significant difference were from the PP library. Cancer associated genes, HSPA9 and
PSPH (GP library) and BCAP31 (PP library) were significantly higher in the B-lymphoid leukemia cell
lines. No significant difference was observed between myeloid cell lines and healthy controls. This
may also be due heterogeneity of cell lines studied. PBMC from healthy controls were not in cell cycle.
G2/M profiles and growth curves showed B-lymphoid cells just reaching plateau after 72 hour culture
while myeloid cells were declining. IC50 values from cytotoxicity assay revealed myeloid cell lines had
an average 13-fold higher drug resistance to epirubicin compared to B-lymphoid cell lines. Only CCL1,
was expressed at least two-fold higher in myeloid compared to B-lymphoid cell lines. In contrast,
MTRNR2, EEF1A1, PTMA, HLA-DR, C6orf115, PBX3, ENPP4, SELL, and IL3Ra were expressed
more than 2-fold higher in B-lymphoid compared to myeloid cell lines studied here. Conclusion: Thus,
B-lymphoid leukaemia cell lines here exhibited active, proliferating characteristics closer to GP genes.
Higher expression of several genes in B-lymphoid compared to myeloid leukaemia cell lines may be
useful markers to study biological differences including drug resistance between lineages.
Microbial keratitis is one of the most challenging complications of contact lens (CL) wear. Proper CL practice plays an important role to reduce the risk for contact lens related microbial keratitis (CLRMK). Methods: This multi-centre case-control study was conducted from January 2008 until June 2009 to determine the risk factors associated with CLRMK. Cases were defined as respondents who were treated for CLRMK, whilst controls were respondents who were contact lens wearers without microbial keratitis. Ninety four cases were compared to 94 controls to determine the risk factors for
CLRMK. Results: The predictors for CLRMK were: Not washing hands with soap before handling CL (aOR 2.979, CI 1.020, 8.701 p=0.046), not performing rubbing technique whilst cleaning the CL (aOR 3.006, CI 1.198, 7.538 p=0.019) and, not cleaning the lens case with multipurpose solution daily (aOR 3.242 CI 1.463, 7.186 p=0.004). Sleeping overnight with the CL in the eye (aOR 2.864, CI 0.978, 8.386 p=0.049) and overall non-compliance with lens care procedures (aOR 2.590, CI 1.003, 6.689 p=0.049) contributed significantly to CLRMK. Conclusion: Health education and promotion in contact lens care are important and should be conducted by eye care practitioners to reduce the occurrence of CLRMK.
Introduction: Non-alcoholic Fatty Liver Disease (NAFLD) is one of the end organ damage detected
in patients having metabolic syndrome X and it can lead to chronic liver failure. Therefore, it is
important to be able to assess the condition in a quantifiable manner to help clinicians recognize
and treat this disease. Objective: We aimed to determine the prevalence of NAFLD in patients with
metabolic syndrome in Serdang Hospital, Malaysia using contrast-enhanced multidetector computed
tomography (CECT) abdominal scan. The study also aimed to calculate the quantification of NAFLD
using liver to spleen density CT Hounsfield Unit ratio, CTL/S or CTL/S measurement using abdominal
CECT scans. Furthermore, we aimed to verify the correlation of dyslipidemia with NAFLD based on
the CTL/S parameter. Materials and Method: We conducted a cross-sectional retrospective study in
Hospital Serdang, Malaysia using data from January 2012 to December 2013. The sample size was 279
patients with metabolic syndrome who had undergone CECT abdominal scan. Patient demographics
were descriptively analysed. Spearman’s correlation test was used to look for association among lipid
profile, blood sugar level and CTL/S ratio. Results: The prevalence of NAFLD in metabolic syndrome
patients in our population was 82.8%. Prevalence of NAFLD was high among the elderly population (≥
57 years old). Additionally, Indian ethnics with metabolic syndrome had the highest risk of developing
NAFLD (90.9%). There was a significant association between elevated LDL levels and CTL/S ratio
Osteolytic disease of the bones have a myriad range of aetiology. One rare cause is Gorham’s disease
or disappearing bone disease. This disease is a diagnosis by exclusion using correlation made with
clinical presentation, radiological findings and histopathological confirmation. Although many different
therapies have been advocated, none have been successful in fully controlling this disease. We present a
case that was detected in a Chinese lady using diagnostic imaging, confirmed with computed tomography
guided biopsy and successfully treated with joint reconstruction using endoprosthesis.
Thrombosis is one of the causes of morbidity and mortality in women of reproductive age group. Thrombosis at unusual sites may pose diagnostic and management dilemma for health care personnel. Teamwork and good communication provide the best modalities for maximum benefits to patients. Here with, we presented a case series of thrombosis at unusual sites seen and managed in our clinic.
A 35 year-old Malay lady presented with left hemiparesis while she was on oestrogen based combined contraception pills (C-OCP). Imaging studies showed extensive venous thrombosis with bilateral acute cortical infarct. Thrombophilia screening of antiphospholipid syndrome were negative. She was put on anticoagulant and stopped 2 years after the incident.
A 40 year-old Malay lady presented with abdominal discomfort, lethargy and massive splenomegaly. Bone marrow and trephine examination revealed primary myelofibrosis with positive JAK2617F. Imaging study showed chronic portal vein thrombosis with portal vein hypertension, complicated by gastro-oesophageal varices. She was put on hydroxyurea and later started on ruxolitinib with banding done over her gastro-oesophageal varices.
A 26 year-old Malay lady presented with serositis, mouth ulcer and anaemia symptoms. Laboratory studies were positive for systemic lupus erythematosus and negative for antiphospholipid study. Imaging study showed long segment thrombosis of right internal jugular vein with surrounding subcutaneous oedema. She is currently stable on anticoagulants and steroid. Teamwork and holistic approach is practiced in the investigation and management to provide maximum benefits for patients.
Plunging epidermoid cyst of the floor of mouth is indeed an uncommon entity. A 34-year old Malay
gentleman had presented to our centre with a floor of mouth lesion that extended into the submental
region. Clinical findings and imaging studies pointed towards the impression of a plunging ranula.
Histopathological examination of a completely excised mass via intraoral approach, confirmed the
diagnosis of an epidermoid cyst. He was well on follow up with no subsequent recurrence. We discuss
the nature of epidermoid cyst and its surgical management.
Mastoid osteoma is a rare benign neoplasm of mesenchymal origin. Osteomas of the temporal bone are
infrequent, and these mastoid osteomas are a definite rare occurrence. These tumours can present with
cosmetic deformity and sometimes with pain. In this report we describe a patient with mastoid osteoma
who presented with cosmetic deformity and experienced retro auricular pain.
Mesenchymal stem cells (MSCs) hold a great therapeutic potential for regenerative
medicine and tissue engineering due to inherent immunomodulatory and reparative properties. Hence,
it necessitates a readily available supplyof MSCs to meet the clinical demands adequately. Although,
a human placenta can produce MSCs, the in vitro culture-mediated cellular senescence often affect the
quality of cell product. Thus, the current study has explored the feasibility of basic fibroblast growth
factor (bFGF) to enhance the growth of placenta-derived MSCs (PLC-MSCs). Methods:The basic
fibroblast growth factor (bFGF) was supplemented to optimise the growth of MSCs. The effects of
bFGF on morphology, growth kinetics and cytokine secretion of PLC-MSCs were assessed. Results:
The bFGF supplementation increased the proliferation of PLC-MSCs in a dose-dependent manner and
40 ng/ml showed a high trophism effect on PLC-MSC’s growth. In the presence of bFGF, PLC-MSCs
acquired a small and well-defined morphology that reflect an active proliferative status. BFGF has
induced PLC-MSCs to achieve a shorter doubling time (45 hrs) as compared to the non-supplemented
PLC-MSCs culture (81 hrs). Furthermore, bFGF impelled PLC-MSCs into cell cycle machinery where
a substantial fraction of cells was driven to S and G2/M phases. Amongst, 36 screened cytokines, bFGF
had only altered the secretion of IL-8, IL-6, TNFR1, MMP3 and VEGF. Conclusion:The present study
showed that bFGF supplementation promotes the growth of PLC-MSCs without significantly deviating
from the standard criteria of MSCs. Thus, bFGF could be considered as a potential mitogen to facilitate
the large-scale production of PLC-MSCs.
Introduction: This study aims to quantify the concentrations of Cu, Cr, Zn, Ni, Pb, As and Cd in paddy soil and water and assess their potential dermal health risk to the farmers at Kampung Sawah Sempadan, Malaysia. Methods: 72 water samples and 72 soil samples were collected and analysed using inductively coupled plasma mass spectrometry (ICP-MS). 117 respondents were interviewed using a questionnaire to obtain the exposure information for dermal health risk assessments. Results: All elements in water did not exceed the recommended concentration by Malaysia National Water Quality Standard (NWQS) and Food and Agriculture Organization (FAO). Nevertheless, the maxi- mum concentration of As (31.49 mg/kg) in paddy soil exceeded the Dutch Target Value for soil protection (29 mg/ kg). There was no significant chronic non-carcinogenic health risk for farmers working in the paddy soil and water (HQ
Introduction: A cross-sectioned study was carried out on 1016 drug addicts from Johor state to better understand their profile.
Method: A structured questionnaire prepared in three languages was used to collect the data which was analyzed using the Statistical Package for Social Sciences.
Result & Discussion: The overall mean age of the respondents was 33.8 (95% CI= 33.3 - 34.4) years and ranged from 16 to 61 years. ANOVA post hoc multiple comparison tests showed that there was a significant difference in the mean age between Malays and Chinese (p<0.05). The majority of the respondents were Malay (79.6%) and had secondary education (72.1%) or primary education (21.7%). The majority (79%) was either semi-skilled or unskilled. More than 70% had mores than five siblings. About 36% of the respondents had past a history of discipline problem at school. The majority (99.6%) of the drugs addicts had smoked before and more than 90% were currently smoking. More than 80% had consumed alcoholic beverages. The majority did not use condom when they had sex. Only 24% stated that they did use a needle or syringe that had previously been used by someone else. Less than 4% had either bleached or boiled the needle or syringe that had previously been used by someone else. About 17% were tested positive for HIV. The mean age at which the respondents first started injecting drugs was 21.5 (95% CI= 20.7 - 22.2) years. ANOVA post hoc multiple comparison tests showed that there was no significant difference in the mean age of the different ethnic groups at which the respondents first started injecting drugs. The majority (84.2%) of the drug addicts started injecting drugs between 10 and 20 years of age. Friends introduced 80% of the drug addicts to drugs. The common reasons given for first taking drugs was " I was curious about the feeling of taking drugs (43.6%), "my friends asked me to try" (23.4%), "to release tension" (15.6%) and 5% stated "to try for fun", and 3% that they were "depressed". The majority (64.2%) of the drug addicts spend RM 500 or more per month on drugs and more than 10% of them spend as much as RM 1000 or more per month.
Conclusion: These results indicate an urgent need for a more comprehensive prevention program involving family, schools, commmunities and the media and aimed at reducing drug abuse. Keywords: Profile, drug addicts, Malaysia
Objective: A cross-sectional study was conducted to determine and evaluate the effects of schoolbag load on electromyography (EMG) activity of the erector spinae muscle.
Methods: Eighty-four primary schoolchildren were selected from two national medium primary schools in Seri Kembangan, 42 from Primary Two (P2) and 42 from Primary Five (PS), aged 8 and 11 respectively. Data were collected through interviews, anthropometries measurements, the weight of schoolbag load and surface electromyography (SEMG) of the erector spinae using Muscle Tester ME3000f'®. SurfaceAg-AgCl electrodes were used to measure: unloaded standing and walking, and loaded standing and walking.
Results: The study revealed that the erector spinae was found to be more efficient in loaded standing probably due to other trunk muscle co-activity compared to unloaded standing (p<0.05). However, the erector spinae was less efficient when loads were carried on the back while walking, compared to unloaded walking. When the schoolbag was carried over both shoulders, forces generated by the erector spinae were reduced and resulted in a more efficient use of the erector spinae compared to other asymmetrical carrying methods (p<0.05).
Conclusions: Bending slightly forward when carrying schoolbag was found to reduce the forces generated by the erector spinae compared to normal sagittal posture (p<0.05), however no significant difference was found between the different frontal postures. A significant inverse relationship (p<0.01) between the weight of schoolbag load and the average electromyography (AEMG), showed that the signifieance of the erector spinae muscle was reduced when a heavier schoolbag load was carried, owing to other trunk muscles co-activity. The study also revealed that apart from age of schoolchildren, family history of back pain, exposure to environmental tobacco smoke (ETS), weight of the schoolbag and method of carrying schoolbag also play important role as risk factors for back pain.
Keywords: Electromyography, schoolbag, primary school, back pain
We report a case of sciatic nerve entrapment resulting in a patient experiencing pain over the posterior aspect of the knee, simulating a Baker's cyst. Surgical exploration revealed a tight fibrous arch compressing the distal portion of the sciatic nerve, proximal to its bifurcation. Decompression of this entrapment led to complete relief of symptoms. This form of presentation is rare and should be considered as a differential diagnosis when a patient presents with complaints of pain in the back of the knee. Keywords: Sciatic nerve compression, pain in the back of the knee
Objective: Despite much progress in treatment strategies, long term survival of adult ALL is still inferior to that in children. The underlying mechanisms for these differences are largely unknown. Intensification of contemporary therapy has also resulted in many children being over-treated. The action of chemotherapeutic drugs used in the treatment of ALL includes cell cycle dependent agents which are effective on cells that are proliferating. Cell proliferation in haemopoietic cells is controlled by cytokines. Thus, we proposed to study the cell cycle profile of ALL cases and also expression of cytokines to determine their role in affecting treatment outcome in the different age groups.
Methods: We determined the S-phase fraction from the cell cycle profile by flowcytometry and tested the expressions of cytokine IL-1beta, IL-6, IL-18, IFN-gamma, TNF-alpha and GM-CSF using RT-PCR in de novo ALL cases.
Results: We found a significantly higher S-phase fraction in samples from children 2-10 years old compared to the older age group (>10 years old) (p=0.001). GM-CSF was found to be expressed in a significantly lower percentage of children compared to adults (p=0.008).
Conclusion: Our results implied that GM-CSF may have induced cell cycle arrests in adult ALL resulting in a lower percentage of S-phase fraction. This may contribute to the poorer prognosis in adult ALL because non-cycling blasts are less sensitive to some chemotherapeutic drugs.
Keywords: ALL, S-phase fraction, GM-CSF, age
Objective: This study was done to identify blood donors with thalassaemia and iron deficiency. A cross sectional study was carried out at Pusat Darah Negara (PDN), Kuala Lumpur in November 2003.
Methods: Full blood counts were done on 242 blood donors (166 males and 76 females) Hb analysis and serum ferritin assay were done for all the samples. The first time donors were used as controls.
Results: Only 20 (8.3%) donors had MCV <80 fL and MCH <26pg. Six of the 25 donors with iron deficiency had a low MCV <80 fL) and low MCH <26 pg) but all the 8 (40%) donors with thalassaemia or HbE had a low MCV and MCH! The mean ferritin levels were found to be lower among regular blood donors (95.3 ug/L) compared to first time blood donors (116.6 ug/L) but this was not statistically significant. There were 25 donors who were iron deficient: one was a first time donor and 24 were regular donors - 12 (50%) had donated 3 times a year in the last two years. Iron deficiency was seen in 12 Malays, and 9 Chinese, and 4 Indians. 13.3% of the males (22 out of 166 donors) and 4% (3 of 76) of female donors were iron deficient. Thalassaemia and HbE were found in 8 donors. HbE trait was identified in 5 Malay donors. One Malay and 1 Chinese donor had beta-thalassaemia trait. Another Chinese had alpha (a^o) thalassaemia trait. Neither HbE nor thalassaemia were seen in the Indian donors.
Conclusion: In this study thalassaemia and RbE were seen in 3.3% and iron deficiency in 10.3% of the 242 blood donors at PDN. Iron deficiency was present in 3.2% of the first time donors and 12.8% of the regular donors. Regular donors should have the serum ferritin done for their iron status and if their MCV and MCH are low, Hb analysis for thalassaemia or haemoglobinopathy.
Keywords: Blood donors, serum ferritin, iron deficiency, haemoglobinopathy
Despite increasing interest in in nutraceuticals and their potential health benefits, not much is known about bioavailability of most of these nutraceutical compounds. Although they are considered dietary supplements and are subjected to a limited form of regulation, there is, however, a need to improve the efficacy and safety of these nutraceuticals. Additional research which defines the pharmacology, stability and bioavailability of these products is expected to gain strength and may offer a better understanding of their applicability in the prevention of disease conditions. This article reviews some aspects of nutraceutical bioavailability with examples from our work on the absorption studies of minerals from spirulina (Arthrospira plantensis) and gamma-oryzanol from rice bran (Oryza sativa) extract which employed human colon carcinoma (Caco-2) cell line and in vivo bioassays using animal models. Bioavailability of iron from spirulina was compared with its common source FeS04. Using the in vitro digestion protocol in combination with Caco-2 cell culture system, spirulina showed a high iron bioavailability compared to FeS04. The presence of other dietary factors (calcium, ascorbic acid, zinc, tannin and caffeine) was found to be not as significant as ferrous sulphate in affecting the iron uptake from spirulina. In vivo study showed that the efficacy of iron repletion in anaemic rats was enhanced in groups fed either commercial or cultured spirulina with improved haematological parameters of iron status. Further work on the behaviour and distribution of radiolabelled iron from spirulina has shown that iron-59 retained in the GIT of mice was lower in spirulina group compared to FeS04. Bioavailability study of gamme oryzanol was similarly conducted using Caco-2 cell as in vitro system and rabbit as in vivo model with the application of different formulations of gamma oryzanol in comparison with the natural form. Both systems showed that gamma oryzanol in its natural oil was poorly absorbed. However, when converted to other formulations, gamma oryzanol bioavailability was greatly increased by as much as 200 and 33 times more from the emulsion and microspheres respectively. These findings suggest that the efficacy of nutraceuticals in particular plant derived products which contain many phytochemicals should be assessed in terms of not only their potential health benefits such as antioxidant action but also their bioavailability in order to provide a more wholesome picture of their potential.
Introduction: This research was conducted to investigate the effects of Catharanthus roseus (Kemunting Cina), Kalanchoe laciniata (Setawar Kampung) and Piper longum (Kadok Kampung) on the in vitro proliferation of hormone dependent breast cancer (MCF-7) and colon cancer (Caco2) cell lines. Methodology:The effects of Catharanthus roseus, Kalanchoe laciniata and Piper longum extracts (hexane, chloroform, ethyl acetate and methanol extracts) on the cytotoxicity of MCF-7 and Caco2 cell lines were measured using (3-4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazoliumbromide) (MTT) assay. Results: Kalanchoe laciniata hexane extract showed significant inhibitions on MCF-7 carcinoma cell lines proliferation with IC50 value of 75.7 Âµg/ml. Catharanthus roseus extracts (hexane, chloroform and ethyl acetate) inhibited MCF-7 cells proliferation at concentrations of 80, 70 and 90 mg/ml, respectively. Discussion: IC50 value of all extracts of Piper longum and Kalanchoe laciniata chloroform, ethyl acetate and methanol extracts on the proliferation of MCF-7 cancer cells could not be determined, as it did not demonstrate any appreciable inhibition on the cellular proliferation at the concentration tested. However, Piper longum chloroform and ethyl acetate extracts showed anti-tumourigenic effect against colon cancer (Caco2) with IC50 of 87 mg/ml and 20 mg/ml, respectively. Kalanchoe laciniata hexane extracts inhibited Caco2 cellular proliferation with IC50 value of 100 mg/ml. Catharanthus roseus chloroform and ethyl acetate extracts inhibited Caco2 proliferation at IC50 of 28.2 Âµg/ml and 74.1 mg/ml, respectively. Conclusion: From this study, it can be concluded that only hexane extract of Kalanchoe laciniata was effective against cellular proliferations of MCF-7 while Piper longum was more effective in inhibiting Caco2 proliferations. However, both the herbs were not so effective against MCF-7 and Caco2 cell lines compared with Catharanthus roseus. Keywords: Catharanthus roseus, Kalanchoe laciniata, Piper longum, cytotoxicity
Objective: Immunisation is known to be an effective health intervention that protects children from infectious diseases. Of all children, infants are the most vulnerable if they experience a vaccine preventable disease. The aim of the study was to determine the immunisation status of hospitalised infants, to obtain the reasons of incomplete immunisation and to assess carers' knowledge on immunisation.
Methods: This was a cross-sectional study conducted in the Institute of Paediatrics at Hospital Kuala Lumpur over a 2-month period from June to August 2001. Data were collected through an interview using a structured questionnaire, with the carer of the infant. Questions pertaining to the immunisation status of the infant, reasons of incomplete immunisation and the carer's knowledge of immunisation were assessed.
Results: 115 infants were admitted during the study period; however, only 100 carers of the infants were available for an interview. The average age of the infants was 5.7 months. 22% of the infants had incomplete immunisation. 64% of them had missed more than one vaccine. The commonest missed vaccine was the 3'4 dose of diptheria-pertussistetanus (DP1) and polio vaccine. Reasons of incomplete immunisation include misconception on contraindication of immunisation perceived by both parents and health providers, missed appointment and communication breakdown with health facilities regarding appointment dates. The under-immunisation rate in the study population was 22%. The underimmunisation rate in the study population was 22%.
Conclusion: Health providers and the public need to be educated on the importance of immunisation and the associated valid contraindications.
Keywords: Infants, carer, under-immunisation, incomplete immunisation
Aims: To investigate whether in Malaysia, a mean corpuscular volume (MCV) less than 80 fl and a mean corpuscular haemoglobin (MCH) less than 27 pg will identify carriers in pregnant women with severe forms of thalassaemia, a-thal 1 (a0) and classical b (b0)-thalassaemia. The results from this study will aid the implementation of a national program to screen for thalassaemia.
Methods: For classical b (b0)-thalassaemia, blood samples collected in EDTA from 153 pregnant women were taken for full blood counts and haemoglobin subtyping by automated blood counting and high performance liquid chromatography (HPLC) respectively. For a-thal 1 (a0), the full blood counts were obtained from archives of 30 pregnant women who were genotyped positive for the a-thal 1 (a0) during prenatal diagnosis for Hb Barts hydrops fetalis. The effects of storage on MCV, MCH and Hb A2 were determined by tests done daily for 3 weeks.
Results: By correlating red cell indices with high performance liquid chromatography and genotypic data, we show that mean corpuscular volume (MCV) <80 fl and mean corpuscular haemoglobin <27pg is able to detect all heterozygous carriers of a-thal 1 (a0) and classical b (b0)-thalassaemia. On storage, the MCV of heterozygous carriers with classical b (b0)-thalassaemia rose at 1% a day after 24 hours reaching a mean of 80 fl by day 15. However, the MCH and Hb A2 were stable for 3 weeks.
Conclusion: A mean corpuscular volume (MCV) <80 fl and mean corpuscular haemoglobin <27pg should be recommended as cut-off values for screening of carriers of a-thal 1 (a0) and classical b (b0)-thalassaemia. In blood samples, not processed within a day, MCH with a cut-off value of 27 pg is the recommended choice for screening of carriers. Keywords: Screen, thalassaemia, pregnant, MCV, MCH
Occult mucosal prolapse syndrome, also known as the solitary rectal ulcer syndrome (SRUS) is uncommon. Due to its rarity, a misdiagnosis of rectal cancer is occasionally made as the clinical features may closely mimic those of rectal malignancy. We hereby report a case of SRUS in an elderly Malay gentleman who had primary symptoms of rectal bleeding with associated anaemia and anorectal pain. Even though the clinical features and specific investigations suggested the presence of rectal cancer, preoperative histological analysis failed to confirm this. In view of the intractable symptoms and rectal bleeding, a low anterior resection was performed. A detailed examination of the resected specimen intraoperatively, together with the histological report and awareness of this condition avoided the performance of an abdomino-perineal resection. Incidently coexisting malrotation of the sigmoid colon to the right side was discovered during surgery. This finding, which may be coincidental, has not been reported thus far in the medical literature. The patient's symptoms improved postoperatively with a subsequent uneventful recovery. A brief literature review supplements this case report.
Keywords: Mucosal prolapse syndrome, solitary rectal ulcer syndrome, rectal cancer