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.
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.
The aims of this study are to identify and characterize the Haemoglobin G Makassar. Haemoglobin G Makassar was identified in Makassar, Sulawesi (Celebes), Indonesia in 1969 and has been reported in a family of Thai origin in 2002. Haemoglobin G Makassar was found to share identical properties with haemoglobin S in routine haemoglobin separation by cation-exchange HPLC. It is therefore, patients with Haemoglobin G Makassar and Haemoglobin S may sometimes be mistakenly identified for each other.
There were four cases identified from year 2015 to 2016 in Peninsular Malaysia by Molecular Genetics Laboratory, Institute for Medical Research. All patients were asymptomatic with mild hypochromic microcytic anaemia. All patients were analysis with Haemoglobin S trait. Analysis by Capillary Electrophoresis showed that these patients had 39.9 to 44.0% of haemoglobin variant in zone S. Alpha and Beta globin gene analysis were performed on these samples.
DNA sequence analysis, revealed a single nucleotide substitution GAG to GCG at codon 6 of the beta-globin gene (Glu>Ala), indicating of Haemoglobin G Makassar for all the patients (Fig. 1). All patients were positive with Haemoglobin S trait. Multiple Amplification Refractory Mutation System (MARMS) PCR for Haemoglobin S was negative in all cases. However alpha-globin gene analysis showed that two of them had single alpha deletion (α3.7). The mean reading for HGB is 11.95 g/dL, for MCV is 72.1 fL and for MCH is 23.65 pg which all are lower than normal peoples.
The screening method may mistakenly identify Haemoglobin G Makassar as Haemoglobin S. Therefore identification and characterization of Haemoglobin G Makassar by several molecular methods such as polymerase chain reaction (PCR) and sequence analysis are necessary for confirmation of the diagnosis.
The aim of the study is to evaluate the effects of contact and non-contact laser photocoagulation (LP) on ocular surface changes and Ocular Surface Disease Index (OSDI) score in patients with proliferative diabetic retinopathy (PDR). This was a single center, prospective, randomised, parallel-controlled trial of pilot study in Hospital Universiti Sains Malaysia between June 2013 and May 2014. Eye with PDR was selected and randomised into 2 groups (Contact LP group and Non-contact LP group) by using random sampling envelope method. Contact LP group was treated with contact LP via slit lamp laser delivery system. Non-contact LP group was treated with non-contact LP via binocular laser indirect ophthalmoscopy system. Main outcome measures were Schirmer test value, tear film break-up time (TBUT) and OSDI score at baseline and at 3 months post laser therapy. Statistical analyses were performed using SPSS version 22.0. A total of 60 eyes were recruited (30 eyes in Contact LP and 30 eyes in Non-contact LP). Contact LP showed significant reduction of TBUT (p = 0.038) and significant increase in mean OSDI score (p = 0.001) at 3 months post laser therapy. However, there was no significant difference of mean change of Schirmer test value and TBUT between the two groups except for OSDI score (p = 0.044). Both mode of laser deliveries (contact LP and non-contact LP) showed comparable effects on ocular surface disease in PDR patient that underwent laser pan retinal photocoagulation.
Cornea bee sting is a rare condition with mild to severe complications. We report a case series of three patients with cornea bee sting presented to a tertiary center. All patients sustained embedded stingers in the cornea stroma and presented within a few hours of injuries. All patients received topical antibiotics, topical steroids and removal of stingers. However, techniques of stinger removal and administration of the medications are among factors that contributed to different outcomes in these patients
Screening for Tuberculosis (TB) using Chest X-Rays (CXR) among high-risk individuals is essential to help reach the End TB Strategy goal in reduction of 90% in TB incidence by 2035. Even though Ministry of Health Malaysia has made screening compulsory, the number of cases detected is not encouraging. Therefore, it is essential to identify factors contributing to positive screening that would improve case detection. High-risk groups are individuals that are compulsory to be screened using chest x-ray, regardless of presence or absence of TB symptoms. A cross sectional study was done in 2016 involving individuals belonging to TB high-risk groups who underwent screening in Kedah, Malaysia. Data was obtained from the TB information system (TBIS) 104 A, an information system used for TB screening monitoring and chest x-ray report of the selected individuals. It involved 1417 individuals who were randomly selected from various health facilities in six districts of Kedah. Among all 1417 study samples, 1036 (73.1%) individuals were asymptomatic. Among the asymptomatic individuals, only 91 (8.8%) had positive CXR findings. Smokers were found to have almost 3 times the odds of having positive CXR findings compared to non-smokers [Adjusted OR (95% CI): 2.71 (1.03, 7.15), p-value
Horseshoe crab is one of the oldest existing living fossils comprising four main species today. Of these, Limulus Polyphemus is found in North America and the other three species, Tachypleus tridentatus, Tachypleus gigas and Carcinoscorpius rotundicauda are found in Southeast Asia. Horseshoe crabs play important roles in the regulation of the coastal ecology communities whereby the eggs serve as the main diet of shorebird species during the migrating season. Horseshoe crab is also seen as a versatile organism, useful in the biomedicine field particularly, as its blue blood has been widely integrated to be used for endotoxin tester in vaccines, drugs and injectables. Researchers have explored a material called perivitelline fluid (PVF) from the egg of a fertilized horseshoe crab which is rich in important proteins and amino acids that are crucial for embryogenesis. Previous studies have shown that PVF has the ability to enhance cell growth and differentiation as well as in promoting generation of certain organs. Testing of PVF on many types of cells has shown positive results and hence, it is suggested that PVF could be used as a supplement to support cell growth in future. Highlighting the horseshoe crab as a living fossil, this review brings out the relevance of the blue blood and PVF of the horseshoe crab as sources benefitting molecular research.
Total immunoglobulin E (IgE) has been an indicator for early diagnosis of allergic diseases due the important role of IgE in the sensitization towards allergens. Although total IgE is a common diagnostic test that screens for possible allergic diseases, reports are still lacking on the profile of total IgE levels of allergic patients from the north-east region of Peninsular Malaysia. Hence, this study aimed to investigate the association of total IgE levels with clinico-demographic parameters and whether increasing total IgE levels were associated with certain allergic manifestations in this study cohort. A local cohort of allergic patients (n=71) diagnosed in between 2009 and 2016 in Hospital Universiti Sains Malaysia (HUSM) were evaluated for the relevance of total IgE levels in allergy diagnosis. Our study did not demonstrate significant association between total IgE with age (p=0.75) or gender (p=0.65). However, we showed that elevated total IgE levels were associated with disease severity. Our data suggests that increasing total IgE levels beyond the conventional cutoff used to define abnormal IgE levels were more commonly associated with patients presenting allergic asthma and skin allergy manifestations. Total IgE level is a useful indicator for diagnosis of allergic diseases. Although total IgE level might not be sufficient to confirm the sensitization status of an individual, it may reflect the severity of the allergic disease suffered and it has a high correlation with positive sIgE values.
Orbital cellulitis is a clinical diagnosis. Once the diagnosis is made, an empirical antibiotic is started, and in most cases, the clinical improvement can be observed within 24-48 hours. We discuss treatment options in managing orbital cellulitis in a 34-year-old male in which no improvement was seen despite being started on empirical broad-spectrum antibiotic. Patient had a prior history of being bitten by an insect in the left upper eyelid while doing gardening about 5 days prior to admission. The patient developed left orbital cellulitis a few days following the insect bite. Patient was started empirical broad-spectrum antibiotic immediately, but no improvement observed. Culture and sensitivity taken from the upper eyelid grew methicillin-resistance Staphylococcus aureus (MRSA) which was sensitive to vancomycin. Patient was treated with intensive fourteen days of intravenous vancomycin. The infection resolved as evidenced by clinical improvement and reduction of white blood cells count.
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.
This study aims to determine the effects of bioactive glass (BG) combined with Acmella oleracea (AO) extracts on dental pulp stem cells (DPSC) viability. DPSC were exposed to different combinations of BG-AO leave extract-conditioned medium. The BG 45S5 powder was synthesized using the sol-gel method. AO extract was prepared using ethanol extraction method. Gas Chromatography–Mass Spectrometry (GCMS) analysis of the AO ethanol extract was performed on a GCMS system consisting of an Agilent 6890 gas chromatograph coupled with an Agilent 5973 mass spectrometer. Sol-gel BG conditioned medium doped with AO extracts at various concentrations (25, 50, 100 and 250 μg/mL) with BG (1 mg/ mL) were prepared and exposed to DPSC. The DPSC was also treated using BG- and AO- only conditioned medium and non-treated cell as control. The DPSC cells’ responses were assessed using Alamar Blue (AB) assay. The results showed that GCMS analysis revealed the presence of amide, ester, terpenoid, fatty acid, alkene, terpene, carbohydrate, phenolic and alkane groups. Based on the AB assay, the BGAO- conditioned medium promoted DPSC viability. However, an increase in DPSC cell viability is clearly observed at Day 7 and 14 following exposure in BGAO-conditioned medium at the ratio of 1 mg/mL BG with 50 and 100 μg/mL of AO in comparison with AO alone. BGAO-conditioned medium at a dose of 25 μg/mL supported greater DPSC viability compared to other combination doses. The effect of combination of BG and AO towards DPSC at a certain dosage revealed continuous cell viability over the observation period and promoted cell growth that may be contributed by the combined effects of BG dissolution ions into the culture medium and also the presence of identified compound from the AO extracts namely phytol, linoleic acid, palmitic acid and 1, 4, 7,-Cycloundecatriene, 1, 5, 9, 9-tetramethyl, Z, Z, Z. Thus, it may have a significant potential to help in promoting dental and hard tissue regeneration
Shift in the dispersion of breast cancer population continues to be a major health concern for women in the developing countries. However, prevalence and associated factors of physical activity among this population have not been explored in Malaysia. This study determined the profile and factors associated with physical activity in the breast cancer women. A multi-center cross-sectional survey was conducted among 399 breast cancer women. Socio-demographic questionnaire was used to generate socio-demographic and clinical data. Physical activity was assessed using the international physical activity questionnaire (IPAQ-SF). Sociodemographic variables were summarized by descriptive statistics. Factors associated with physical activity were identified using Logistic regression analyses. Majority of the participants were married (83.9%), had surgery (92.4%) and menopause (74.1%). The overall physical activity prevalence was 39.4%. Non formal education (Adjusted Odds Ratio [AOR] 5.80; 95%CI: 1.65, 52.15;p=0.017), having had surgery (AOR 0.18; 95%CI: 0.04, 0.79; p=0.023),