Blood donation in Malaysia is practised as voluntary non-remunerated. However, recruiting and retaining blood donors remain a challenge in the transfusion service. The main aim of this study was to understand the factors affecting the return of first-time blood donors. This was a retrospective study involving 480 first-time temporarily deferred whole blood donors from National Blood Centre (NBC), Kuala Lumpur. Data of donors who were deferred from 2010 to 2014 were extracted from the Blood Bank Information System. Deferred blood donors were categorised into two main groups, namely, a group of donors who returned for blood donation and a group that did not return for the donation. Each blood donor was contacted personally via telephone. Donors who returned were younger (p < 0.001), with females in a higher proportion (61.3%) compared to males (38.8%) (p < 0.001). Singles (68.3%) were more likely to return for donation compared to married donors (31.7%) (p < 0.001). Donors who lived in urban areas were more likely to return for donation compared to donors who lived in rural areas (34.6%) (p < 0.005). The most common factor that had motivated these donors to return was self-satisfaction (29.9%), while the most common factor that hindered them from returning for donation was the lack of time (28.50%). As a conclusion, more awareness and education regarding regular blood donation should be considered to donors from a rural areas. Additionally, mobile blood donation drives should be made easier for blood donors who have a busy lifestyle.
The aim of this study was to design and systematically optimize
triclosan loaded nanoparticles (TCS-loaded NPs) formulation for the treatment
of periodontal disease. Triclosan (TCS) is a broad spectrum antimicrobial
agent that has been used in the treatment of the disease. The free drug has
poor aqueous solubility and therefore may encounter permeability problems
when applied to the oral cavity. Resolution IV model of Design-Expert®
software (version 10) was used for the design of experiment and optimization
of TCS-loaded NPs. The nanoparticles (NPs) were prepared using the solvent
displacement method. Effect of factors that were investigated include drugpolymer ratio, surfactant concentration, stirring speed, stirring duration, and
drug-polymer injection rate. Particle size, zeta potential, polydispersity index
(PDI) and entrapment efficiency (EE) were the critical quality attributes
selected for the study. Desirability function determined by the software for
optimized TCS-loaded NPs was 0.704. The observed particle size, PDI, zeta
potential and EE of the optimized TCS-loaded NPs was found to be 135 ± 2.3
nm, 0.1 ± 0.012, -30 ± -4 mV and 75 ± 6%, respectively. It was found that
particle size increases by elevating the concentration of polymer and
decreases with an increase in surfactant concentration and stirring speed.
Zeta potential was found to increase when surfactant concentration was
reduced. Both surfactant concentration and drug to polymer ratio were found
to negatively affect PDI while % EE was positively influenced by the increase
in polymer concentration and decrease in surfactant concentration. The use of
Design-Expert®
software helped in identifying suitable levels of critical quality
parameters for preparing improved NPs formulation for delivery of TCS into
the periodontal pocket.
Muscular dystrophy is a group of diseases that result in progressive muscle weakness and atrophy. Duchenne Muscular Dystrophy (DMD) is classified as dystrophinopathy and is an X-linked recessive disease. It is caused by alterations in the dystrophin gene at Xp21.2 encoding 79 exons [1]. It is characterised by progressive muscle wasting that begins at 3 to 5 years, delay in motor development and eventually wheelchair confinement followed by premature death at about 30 years from cardiac or respiratory complications [2]. Genetic etiology of cases of DMD in Malaysia are still scarcely reported. Here, we report the genetic cause in the case of an 11-year-old Kelantanese Malay boy who has progressive muscle weakness since 5 years old. He has difficulty in getting up from sitting and supine position also in climbing up stairs until 1st floor. He has a strong family history of DMD and musculoskeletal problems. His younger brother was diagnosed with DMD by molecular analysis and his maternal uncle died at the age of 16 with musculoskeletal problems but was never investigated. Physical examination revealed no dysmorphic features, positive Gower sign with absent tounge fasciculation. On neurological examination, tendon reflexes and muscle tone for limbs were normal. Muscle power for bilateral upper limbs were normal, however, bilateral lower limbs showed slight reduction in muscle power with calf hypertrophy.
Odontogenesis is a complex process regulated by both genetic and molecular controls. The development of a tooth in the embryo stage is controlled by a series of signals which occur between tooth-forming epithelium and neural crest-derived ectomesenchyme. Though many genes are involved in tooth formation involving major signalling molecules, the bone morphogenetic protein and fibroblast growth factor are the most important ones involved in odontogenesis. Supernumerary tooth occurs because of imbalance in the expression of the signalling pathways and their inhibitors. This review highlights the various signalling molecules that play a role in odontogenesis in order to provide a better understanding on of the molecular mechanisms involved in the formation of supernumerary tooth in humans.
In Malaysia, Sabah population constitutes the most number of β-thalassaemia cases ranging from asymptomatic to transfusion dependent. Filipino β°-deletion has been reported as the predominant mutation in Sabah [1]. Despite having the same primary mutation, co-inheritance of genetic variants at HbF quantitative trait loci of HBS1L-MYB intergenic region may cause variability in clinical features by affecting the haemoglobin (Hb) subtypes level, especially HbF. Study suggested that MYB would activate γ-globin repressor gene directly and subsequently initiate the molecular HbF repression mechanisms. Polymorphisms within HBS1L-MYB intergenic region would inhibit binding of transcription factor on MYB and leading to elevation of HbF levels [2]. This can act as an ameliorating factor in the clinical presentation of β-thalassaemia patients [3]. This study aimed to elucidate the association of Hb subtypes levels with three HBS1L-MYB variants among 134 Filipino β°-deletion carriers. PCR-RFLP analysis was done for HBSIL-MYB rs4895441 (A→G) while tetra-primers ARMS PCR analysis was done for HBSIL-MYB rs9399137 (T→C) and rs11759553 (A→T) (Fig.1).
The most common inherited monogenic disorders in the world are the haemoglobinopathies and thalassaemia. Thalassaemia is a heterogeneous group of genetic disorders of haemoglobin synthesis, characterised by a reduction in the production of one or more of the subunits of haemoglobin chains [1]. Haemoglobin A2 (HbA2) level is an important parameter in thalassaemia diagnosis. High HbA2 level (≥4.0) detected in Hb analysis, points to the diagnosis of beta thalassaemia and other haemoglobinopathies. However, in some cases, the HbA2 levels are apparently normal or borderline high despite abnormal haematological profile. In these cases, further testing is required to confirm the diagnosis. The aim of this study is to examine any abnormality at molecular level in cases of Hb analysis results with normal or borderline high HbA2 level.
Haemolytic Disease of Foetus and Newborn (HDFN) and Haemolytic Transfusion Reaction (HTR) may occur due to antibodies against Kidd antigen. In Malaysia, the prevalence of RBC alloimmunization due to Kidd antibody for cases of HDFN and HTR have been reported [1-2] however there is insufficient data in Hospital Umum Sarawak (HUS).The aim of this study is to determine whether Kidd alloimmunization causes HDFN and HTR. Indirectly categorize Kidd phenotype blood in regular blood donors.
An 11- month-old girl with accidental findings of pale and hepatosplenomegaly. She was the last child of three siblings from a non-consanguineous marriage. The father and the mother were Hb E trait and Hb Constant Spring (Hb CS) trait respectively. Clinically the child was small for age with frontal bossing and hepatosplenomegaly. Sytemic examination was unremarkable. Her full blood picture showed moderate hypochromic microcytic anaemia with marked anisopoikilocytosis (Hb of 7.1g/dl, MCV of 44.6 fl, with MCH of 13.8 pg and RDW-CV of 24.0%). Quantitation of haemoglobin by using High Performance Liquid Chromatography (HPLC) and gel electrophoresis report showed that the patient has compound heterozygous E/ß+ thalassaemia with Hb H-CS. She had increased of Hb A2/E (28.9%), and Hb F (11.2%) with presence of pre-run peak and a tiny peak at C window. Gel Electrophoresis by using agarose gel at alkaline pH discovered prominent A2 band and fast band to the left of Hb A band. H inclusions were positive. Further confirmation of diagnosis was done by molecular study. Alpha molecular study using Multiplex GAP PCR showed heterozygous --/SEA deletion (Fig. 1), while beta molecular study using Multiplex Amplification Refractory Mutation Systems (ARMS) revealed Cd 26 (G-A) and CAP +1 (A-C) mutations [Fig. 2]
Hemoglobin (Hb) E is common in Southeast Asia [1]. HbE disorders may be found heterozygous (AE) which usually asymptomatic, homozygous (EE) and compound heterozygous state with widely variable clinical features, ranging from transfusion dependence to a complete absence of symptoms [2]. Considering her history, clinical findings and investigations, the most likely diagnosis in our case is Compound heterozygous E/ß+ thalassaemia with Hb H-CS. She had moderate hypochromic microcytic anaemia, raised Hb A2/E and Hb F with presence of pre-run peak and a tiny peak at C window support the diagnosis. Unfortunately, we’re unable to confirm the presence of Hb CS in view of no modalities available in our setting. However, with the family history of mother with Hb CS trait, the presence of Hb CS in this patient cannot be denied as a factor contributing to Hb H disease. Previous study reported Hemoglobin Constant Spring is often missed by routine laboratory testing, especially in subjects with co-inheritance of β-thalassaemia or β-variants. Hb CS detection clearly seen in capillary electrophoresis compared to HPLC [3]. As in this case only a very tiny peak of Hb CS noted on the HPLC. The molecular analysis for detection of Hb CS should be performed as for confirmation test. Hb H-CS has a severe phenotype than a deletional Hb H disease [4]. The diagnosis was confirmed by molecular analysis. Hence, genetic testing and family study are of particular importance to establish the exact genetic defect causing the abnormal Hb in this patient.
In view of thalassaemia is common in our region, it is important to identify complete genotyping to provide proper management, make clinical predictions and improve genetic counseling.
Alpha thalassemia is a common genetic disorder with more than 20% of the world population to be a carrier of some form of α–thalassemia, as estimated by The World Health Organization [1]. It has heterogeneity in its presentation and inheritance and characterised according to their deficient or absent in alpha globin chain involved [2]. The affected individuals may be asymptomatic with hypochromic microcytic anemia or in silent alpha thalassemia may have no clinical signs with normal to mild haematological changes [3]. Current voluntary thalassemia screening programme in Malaysia is mainly based on MCH level of less than 27 before molecular study for alpha thalassemia is done if Hb analysis showed normal results, to exclude alpha thalassemia. Accurate characterization of hematologic parameters is important for selection of appropriate molecular test to determine the carrier genotype, as the test is expensive, time-consuming and not always available. This study was aimed to evaluate the correlation of hematological parameters (Hb, RBC, MCV, MCH, RDW and platelet) with various types of deletional alpha-thalassemia among patients in HUSM.
To report a rare case of an elderly gentleman who presented with herpes zoster ophthalmicus, complicated with persistent hyphema and orbital apex syndrome. A 75-year-old Malay gentleman presented with left herpes zoster ophthalmicus that was complicated with complete ophthalmoplegia and ptosis. He developed total hyphema in the affected eye with a secondary elevated intraocular pressure after a week. He was treated with oral acyclovir and topical corticosteroids. However, the total hyphema persisted that required an anterior chamber washout surgery. Herpes Zoster Ophthalmicus complicated with persistent hyphema and orbital apex syndrome is rare and very challenging to manage. Radiological imaging is important to exclude other causes of OAS. It is recommended to treat HZO with systemic acyclovir for a longer duration in view of ocular and neurological involvement.
— To report clinical features and management of toxic keratopathy
induced by inadvertent intrastromal trypan blue injection (0.06%) during
cataract surgery. We report two cases of toxic keratopathy induced by
iatrogenic intrastromal trypan blue injection during cataract surgery. The
two cases were performed by ophthalmology residents at our centre.
Intraoperatively in both cases, trypan blue dye was inadvertently injected
into the corneal stromal via side port wound. Surgery was abandoned due
to development of corneal oedema. They were treated as toxic keratopathy
due to the bluish discoloration of the cornea, generalized (limbal to limbal)
panstromal edema and marked Descemet membrane folds. There were
epithelial microbullae and mild circumcorneal injection. Both patients’ vision
deteriorated with only minimal anterior chamber reaction and normal
intraocular pressure. Intensive topical corticosteroid, prophylactic antibiotic,
gutt hypertonic saline 5%, and cycloplegic agent eyedrops were given. The
cornea edema and staining in both patients resolved completely by 6
weeks. They underwent uncomplicated elective phacoemulsification 3
months after the incident. Intraoperative Iatrogenic inadvertent intrastromal
vision blue injection during cataract surgery can cause toxic keratopathy. A
decision to abandon the surgery and prompt management to reverse the
complication can produce excellent outcome.
To report on a rare case of an intralenticular foreign body which
demonstrates that use of a spring-powered airsoft gun can result in a severe
ocular injury. A 2-year-old male presented following a trauma to the left eye.
The trauma was caused by a wooden matchstick from a spring-powered airsoft
gun being shot into his eye. On examination, there was a shallow anterior
chamber with a full thickness corneal laceration, with fragmented matchstick
pieces embedded in the cornea and in the lens. The corneal foreign bodies
were removed, corneal laceration wound sutured and lensectomy done. There
were no post-operative complications, and the cornea wound healed with a
scar. A few months later, he underwent a successful secondary intraocular lens
implantation surgery with an iris claw lens. Airsoft guns are easily available to
children who are unaware of its dangers. It can cause significant ocular
morbidity despite successful surgical treatment of the injury.
Introduction: Isolation of specific cell types is important in providing a better understanding of hematological disorders. The knowledge of molecular biology aspect in β-thalassemia is still limited. This is because hemoglobin disorder involves various erythropoietic processes in which the genetic information is lack due to enucleation of red blood cells occurs in bone marrow. It is invasive to collect samples from bone marrow and cord blood although nucleated red blood cells (NRBCs) are abundant in these sites. NRBCs are precursors of red blood cells and typically found in peripheral blood (PB) of β-thalassemia major patients and abundant post-splenectomy. The utilization of PB NRBCs will provide a further understanding of the molecular aspects of ineffective erythropoiesis in β-thalassemia major patients. Objective: The objective of this study was to isolate the NRBCs using CD71 magnetic beads from PB of β-thalassemia major; non-splenectomy and post-splenectomy patients. Methods: NRBCs were isolated from 6 mL PB of β-thalassemia major patients based on density gradient and magnetic activated cell sorting (MACS) for NRBCs enrichment using a CD71 marker. Cell count was determined by using hemocytometer (Weber Scientific, NJ, USA) and BD FACSCantoTM II flow cytometry (Becton-Dickson, NJ, USA) was performed for method validation. Results: NRBCs were successfully isolated from the PB of both non-splenectomy and post-splenectomy β-thalassemia major patients with >90% specificity by flow cytometric analysis. The median number of enriched NRBCs (x104 ) was 58.5 (283) and 340 (338) respectively using hemocytometer. Conclusion: The MACS method was found to be convenient and efficient in the isolation of the targeted cells for downstream applications.
The molecular biology knowledge in β-thalassaemia is limited due to the involvement of various erythropoeitic processes where the genetic information is lack due to nucleus ejection throughout the maturation of red blood cell activities concurrence with the accumulation of haemoglobin. Nucleated red blood cells (NRBCs) are typically found in peripheral blood (PB) of β-thalassaemia transfusion dependent patients and abundant in post splenectomy (Fig. 1A) [1]. The presence of NRBCs will provide further understanding on the molecular aspect of ineffective erythropoiesis in β-thalassaemia patients. Therefore, the objectives of this study were to isolate the NRBCs using CD71 magnetic beads from PB of β-thalassaemia patients and to compare the quantity of NRBCs enriched between non-splenectomised transfusion dependent and post-splenectomised transfusion dependent β-thalassaemia patients.
Immunization has been introduced for decades to eradicate fatal infectious diseases by inoculating attenuated, killed or toxoid of microorganisms such as bacteria and virus. The triggering action to the immune system would not harm the host; despite can boost the immune responses to any infection. However, several cases of the eradicated infectious disease have re-emerged due to the existence of vaccine hesitancy group. Vaccine hesitancy has been observed emerging worldwide due to rejection in receiving vaccine. The main obstacle in vaccination program was identified according to the misconception that they received from internet or any mass media without boundaries. Various actions from the government have met the needs to enforce and educate the public especially the hesitant group towards better disease prevention with vaccination. The strategy would cover any interaction activities or programs with the public in transferring the information about the vaccination and its benefit to the health of herd community.
Lung cancer is the second most common contributor to overall cancer–associated death in Malaysia after breast cancer. Many cases of late diagnosis are due to patient’s failure in recognizing the signs and symptoms of this disease. Objective: The aim of this research was to evaluate the knowledge on lung cancer and perception on its screening among IIUM Kuantan students. Method: This was a cross-sectional study whereby convenient sampling was used as the sampling method strategy. A total of 186 students participated, whereby majority was female students, single, and aged between 21 to 29 years old. Knowledge and perception scores were analyzed using descriptive statistics by denoting it in terms of frequency and percentages. Independent t-test, as well as one-way ANOVA, Mann-Whitney and Pearson correlation tests was used to find the association of gender, faculty, marital status, age and year of study (respectively) with knowledge and perception of students. Association between knowledge of lung cancer with perception of its screening was also evaluated using Pearson correlation test. Results: Most of IIUM Kuantan students portrayed good level of knowledge and perception. Socio-demographic factors that were significantly associated with students’ knowledge were age (p=0.001), year of study (p=
Laryngopharyngeal tuberculosis (TB) is a rare disease and usually associated with pulmonary tuberculosis. Mostly, it occurs in adults without BCG vaccination or in immuno-compromised patients (such as AIDS patients). A 34-year-old gentleman with odynophagia and poor oral intake was referred to us to rule out malignancy. Direct laryngoscopy examination revealed ulcerative lesion involving right tonsillar fossa extending downward till right pyriform sinus. Panendoscopy and biopsy was performed. Laryngopharyngeal TB was diagnosed based on the histopathological examination and Ziehl-Neelsen staining.
Macular branch retinal vein occlusion (BRVO), a type of retinal vein occlusion, is rarely recognised as a distinct entity. Macular BRVO has unique clinical features and different natural courses than the major BRVO. We report a case of a young patient with macular BRVO with macular oedema who was successfully treated with intravitreal ranibizumab injection. A 43 year-old Chinese man with no underlying medical illness presented with 2 weeks history of left eye painless reduced central vision which was worsening over time. On examination, his left eye visual acuity was 6/30 and Amsler chart drawing showed a lower central scotoma. Dilated fundus examination found marked flame-shaped retinal hemorrhages with cotton wool spot over the superior macular area bounded superiorly by superior arcade and macular thickening. An optical coherence tomography revealed cystoid macular oedema; and fundus fluorescein angiography showed occlusion of a small venous branch draining a superior part of macula to superior temporal venous arcade. A complete medical investigation found that he has hypertriglyceridemia and he was managed accordingly. His vision had improved to 6/6 after receiving 3 injections of intravitreal ranibizumab with no residual central scotoma and complete resolution of macular oedema.
The aim of this study is to determine the risk factors for retinopathy of prematurity (ROP), and also to screen Norrie Disease Pseudoglioma (NDP) gene mutation in order to determine if mutation in the NDP gene may play a role in the development of ROP among Malay premature infants. This was a case control studyamong Malay premature infants from Hospital Universiti Sains Malaysia (USM) conducted from August 2011 to May 2013. Written consent were taken from their parents before conducting the study. The stage of ROP, systemic risk factors (gestational age and birth weight) and enviromental risk factors (oxygen exposure and duration of ventilation)were reviewed from patients’medical records. DNA was extracted from venous blood and subjected to polymerase chain reaction (PCR) before direct sequencing of NDP gene. A total of 56 Malay premature infants (Case group = 28 ROP premature infants, Controlgroup = 28 non-ROP premature infants)from Hospital USMwere enrolled in this study. Out of 28 premature infants with ROP, 11 (39.3%) premature infants were in stage 3. Only 1 (3.6%) premature infant in stage 4 and 2 (7.2%) premature infants in stage 5. The gestational age (p = 0.010) and birth weight (p = 0.010) were the significant risk factors for ROP. There was no significant difference ofenvironmental risk factors between the two groups. The NDPgene mutation was not detected in Malay premature infants with ROP and also in control group. The gestational age and birth weight were important risk factors of ROP.Although NDPgene mutations were being linked to ROP but NDPgene mutation was not detected in premature infants with ROPas well as premature infants with non-ROP among Malay ethnic background.
Pre-eclampsia may have an impact on women’s health beyond their
pregnancies and has been associated with increased risks for future hypertension
and cardiovascular disease. We report a case of a patient with history of preeclampsia and emergency caesarean section at 31 weeks of gestation due to
impending eclampsia who defaulted follow up and presented with malignant
hypertension and acute loss of vision 10 years later. A 34-year-old Malay female,
presented with generalized painless reduced vision of 5 days duration which was
preceded by an intermittent headache for 1 months duration. She had a history of
pre-eclampsia during her last childbirth 10 years ago and was not started on any
antihypertensive medication as her blood pressure normalized 2 weeks post-delivery.
Subsequently, she defaulted on her follow up. Visual acuity was counting finger at 1
meter in both eyes with no relative afferent pupillary defect. Funduscopy revealed
bilateral grade IV hypertensive retinopathy with the presence of optic disc swelling
and macular star. Optical coherence tomography showed bilateral sub-retinal fluid at
the macula. Her blood pressure was 255/168 mmHg with other systemic
examinations being normal. Ultrasonography of the kidneys showed the presence of
bilateral renal parenchymal disease with elevation of serum urea and creatinine
levels. Her blood pressure was controlled with triple oral antihypertensive agents. Her
vision improved to 6/36 and 6/6 with a pinhole in both eyes and resolution of
papilloedema and sub-retinal fluid at three months follow-up. Patients with a history
of pre-eclampsia must be closely monitored during the postpartum period. Even
though her blood pressure was normalized, careful monitoring and long-term medical
follow up plan must be clearly explained to the patient as she might develop chronic
or essential hypertension afterward. Our patient most likely had essential
hypertension superimposed with pre-eclampsia during her last pregnancy and
currently presented with malignant hypertension due to undiagnosed chronic
hypertension as she defaulted her medical follow up.