Wan Khairunnisa Wan Juhari, Khairul Bariah Ahmad Amin Noordin, Wan Faiziah Wan Abdul Rahman, Andee Dzulkarnaen Zakaria, Ahmad Shanwani Mohd Sidek, Muhammad Radzi Abu Hassan, et al.
Background: Hereditary nonpolyposis colorectal cancer (HNPCC) also known as Lynch syndrome is commonly caused by genetic alterations in any of the four mismatch repair (MMR) genes; MLH1, MSH2, MSH6 and PMS2. This is the first study aimed to investigate genetic variants in Malay HNPCC families. Methods: Six Malay HNPCC families who fulfilled any of the Bethesda criteria were recruited into this study. A total of 3 ml of blood was withdrawn from each patient in the families. The samples were further analyzed using polymerase chain reaction and direct sequencing of the selected exons of MLH1 and MSH2 genes. Results: Two missense mutations and four single nucleotide polymorphisms (SNPs) were identified in six patients. These variants in the MLH1 and MSH2 genes were identified in four families who met the revised Bethesda guidelines. In two families, no mutation and polymorphism was identified in both the exon and intron of the respective genes. Of the mutations and polymorphisms identified, five have never been reported in Malay HNPCC families before. A missense mutation was detected in exon 5 of the MLH1 gene, c.394G>C (p.Asp132His) and four mutations and polymorphisms were detected in the MSH2 gene; heterozygous c.211+98T>C and c.211+9C>G and homozygous c.211+98T>C and c.211+9C>G, c.367-86A>C and c.382C>G. Conclusion: The results represented a new spectrum of mutations and polymorphisms in the Malay HNPCC families. However, a larger study involving additional families and analysis is required to determine the impact and nature of the identified mutations and polymorphisms.
Introduction: Abdominal obesity and inflammation are two independent risk factors for cardiovascular disease. However, the inter-relationship between these two factors among Malay population is fragmented. The purpose of this study is to determine the association between waist circumference as a measure of abdominal obesity and high-sensitivity C-reactive protein as an indicator of inflammation status among Malay obese adults in Kuantan, Pahang. Materials and Methods: Ninety-three apparently healthy obese adults (BMI between 27.5 and 39.9 kg/m2 ) aged between 20 to 62 years old were recruited in this study (68% men and 32% women). Circumference tape was used to measure the waist circumference and fasting venous blood was obtained to determine the high-sensitivity C-reactive protein level. Results: On average, the waist circumference of obese men and women was 103 cm (SD = 8.7) and 94 cm (SD = 7.0), respectively. The median (IQR) of the hs-CRP level of the study participant was 3.80 mg/L (1.5, 10.1). The Kendall’s Tau correlation reveals that there is a significant positive linear correlation between waist circumference and hs -CRP level in obese men (r (30) = 0.355, p = 0.006) and women (r (63) = 0.177, p = 0.043). Conclusion: There is a significant inter-relationship between waist circumference and hs-CRP level among apparently healthy obese adults in Kuantan, Pahang. This study suggests that assessment of hs-CRP level is beneficial to predict the risk for future cardiovascular disease event and facilitate the management of obesity in this population. A prospective clinical study is recommended to confirm the findings.
Introduction: A validated diagnostic questionnaire is needed in the South-East Asia region, particularly in Malaysia to detect Premature Ejaculation (PE). The objective of this study was to determine the linguistic validity of the Malay Premature Ejaculation Diagnostic Tool (MAPET). Materials and Methods: This study was conducted in a teaching hospital. The first phase involved experts’ group discussions to develop the face, content, and factorial validity of the MAPET. The second phase measured the concurrent validity of MAPET. Results: We found that the MAPET has specificity, sensitivity, positive predictive value, and negative predictive value of 79.3%, 92%, 76.7% and 93.1%, respectively in the assessment of PE. The higher score indicates severity of PE. Conclusions: MAPET is a valid self-report instrument for the assessment of PE.
Introduction: Prehypertension precedes overt hypertension and has been acknowledged by many guidelines.
Hypertension is an important risk factor for cardiovascular disease in Malaysia. Hypertension prevalence is
at 42.6% and population-based control is poor at 26.8%. The objective of the study is to ascertain the
cardiovascular risk profile of prehypertensive and mildly hypertensive young adults against age-matched
controls in rural Malaysia. Methods: 484 (four hundred and eighty four) subjects attending primary care
clinic were screened. 91 (Ninety one) young adults with pre/mild hypertension and normotensive, agematched controls were enrolled. The blood pressure and biochemical profiles for both groups were assessed
and compared. Results: Fifty-four subjects and 37 controls were enrolled. Amongst subjects, 46.3% had
prehypertension and 53.7% had mild hypertension. Mean values compared to age-matched controls for MAP
were 102.68 ± 7.48 vs 83.25 ± 6.08 mmHg (p< 0.001), LDL 3.75 ± 0.95 vs 3.32 ± 0.93 mmol/L (p=0.03), FBG
4.65 ± 0.54 vs 4.33 ± 0.42 mmol/L (p=0.03), BMI 28.81 ± 5.16 vs 24.12 ± 4.91 (p< 0.001). The mean BP was
significantly associated with BMI, FBG, triglycerides, HDL and the TC/HDL ratio. Conclusions: Greater BMI,
FBG, HDL, triglyceride levels and TC/HDL ratio characterised the young adults with pre/mild hypertension.
The data suggests that hypertension in young adults is secondary to metabolic syndrome.
This study aimed to develop a questionnaire in Malay language for the identification of risk factors for myopia among primary school children aged 10 to 12 years old in Malaysia. Materials and Methods: The study commenced in October 2012 till Julai 2013 in two main phases. The first phase was a pilot study for the construction of questionnaire items by literature review and discussion with the experts. A total of 103 parents of primary school children were randomly selected to test the comprehensibility of the preliminary questionnaire. The second phase was the actual study which involved parents of 353 primary school children , 132 were parents whose children were myopes and 221 parents whose children were nonmyopes. Results: Discussions with experts in human vision science identified 5 main domains and 71 items for the preliminary questionnaire. A total of 55 items were retained for the actual study phase in view of statistically good correlation (r = 0.4 and above). Predictive validity by chi-square test allowed 28 items to be retained because of significant association with myopia (p
Hydroxychavicol (HC) is a phenolic compound of betel leaf (Piper betle). It has been reported to have antifungal properties against dermatophytes including T. rubrum. The aim of this study was to identify the effects of the HC against T. rubrum. Broth dilution method was used to determine the minimum inhibitory concentration (MIC) and minimum fungicidal concentration (MFC) of the HC. Microscopic study of the treated fungus was done by transmission electron microscope (TEM). Cytotoxicity study using pre-adipocyte (3T3-L1) cell line was performed by means of MTT cell proliferation assay. The MIC and MFC results of the HC were both 0.49 µg/ml. Microscopic study revealed the destruction of the fungal cell wall and organelles. Cytotoxicity study showed HC to be non-toxic to the tested human cell line. In conclusion, HC may potentially be used as an alternative therapeutic agent against T. rubrum infections.
Tinnitus is not a disease per se but it is a symptom. It can be either subjective or objective type and the
underlying cause varies such as tumour, infection, vascular abnormality or Meniere’s disease. Foreign body in the external ear is a common presentation especially in children. However, foreign body in the middle ear manifested with only symptom of tinnitus is a rare and unexpected presentation. Foreign body in the middle ear are commonly due to iatrogenic cause such as complication of myringotomy and ventilation tube insertion surgery. There are reported cases of complications of myringotomy and ventilation tube insertion, and they typically presented with the ear infection manifestation, myringosclerosis or permanent perforation of tympanic membrane. Currently, there are only few reported cases in literatures of foreign body in the middle ear following complication of medial migration of ventilation tube into a middle ear with intact tympanic membrane.
The presence of nurses and junior doctors in the ward environment are crucial, especially in detecting
deteriorating patients. However, there is consistent evidence that warning signs may not always be
identified or acted upon. This paper aimed to analyse the incidence of deteriorating patients, and the
concept of risk assessment of these patients by nurses and junior doctors in general ward, through a review
on relevant literature. An extensive literature search was conducted through online research databases, i.e. CINAHL, MEDLINE (Ovid), Science Direct and ProQuest. Professional journals were hand searched for relevant literature based on reference lists and citations made in key publications, and attempts were also made to obtain any relevant grey literature (unpublished materials). A total of eleven papers which focused on patient’s assessment, response to deteriorating patients and knowledge in medication, and a guideline were reviewed. Most of the studies were carried out in the United Kingdom (n=4), followed by Australia (n=2), Sweden (n=2), the Netherlands (n=1) and Taiwan (n=1). Meanwhile, among these studies, the chosen research designs include, qualitative (n=6), quantitative (n=3) and systematic review (n=1). This review concluded that nurses and junior doctors in general ward have a lack of knowledge in risk assessment of deteriorating patients.
We report a 55-year old lady with the presentation of stridor and type II respiratory failure requiring tracheal intubation. She had right Horner’s syndrome associated with pleural effusion. Her chest radiograph revealed right upper zone lobulated opacities and therefore right Pancoast tumor was the initial diagnosis. However, her CECT thorax revealed a huge right subclavian artery pseudoaneurysm with severe tracheal compression. This rare condition imposed a significant diagnostic as well as therapeutic challenge. Vascular surgery is the definitive treatment but it is associated with high risks. The exact role of rigid bronchoscopy for airway stenting is unknown due to limited evidence available. Indeed, this form of central airway obstruction may benefit from temporary tracheal stenting whilst the surgical repair of the lesion is planned. It may facilitate early weaning and allows less complicated airway control.
Sleep disorder including insomnia is one of the complications of general anaesthesia. It is not uncommon and it is temporary but majority remains unnoticed and untreated. The effect of insomnia ranges from mild to severe, influencing both physical and mental health. Surgeon and anaesthetist need to identify this complication so that an appropriate treatment can be delivered. In complicated case, psychiatrist involvement is crucial. The treatment is symptomatic and temporary. We reported a case of distressful sleep disorder as a sequelae of general anaesthesia for mastoidectomy surgery. Subsequently after symptomatic treatment, he recovered completely and regained his normal sleep pattern.
Over the last decade, Malaysia has witnessed a steady rise in obesity rate. The overweight and obese now comprise of half its 30 million population. This figure is broken down into 30 percent in the overweight category and 17.7 percent in the obese category, according to the 2015 National Health and Morbidity Survey.1 This is an increase of four times from what was reported in 1996, at 4.4 percent.2 World Health Organization (WHO) definition of obesity is body mass index (BMI) of 30 or more, calculated as weight in kilograms divided by height in metres squared.3 As the general population get heavier, the average BMI of ICU admissions have also increased. From the International Nutrition Survey (INS) 2014, the average BMI of critically ill patients admitted to Serdang Hospital was 26 kg/m2 higher than the Asian average at 23.6 kg/m2 . 4 Being obese puts the patients at a greater risk of heart disease, hypertension, stroke, diabetes, sleep apnoea, fatty liver disease, osteoarthritis, and many other serious medical conditions.
We report a child with Proboscis Lateralis with nasal aplasia and complete agenesis of maxillary and
ethmoidal sinuses. This is a rare congenital malformation. Embryological basis has not been proven, and it is often associated with facial malformation. However, no such abnormality was noted in our patient. This condition is diagnosed clinically and confirmed radiologically of which CT scan plays a pivotal role. Reconstructive surgery is planned at the age of fifteen years.
Hereditary Hemorrhagic Telangiectasia, also known as Osler-Weber-Rendu Syndrome is an autosomal
dominant disorder causing systemic abnormalities of the vascular structure. There are multiple arteriovenous malformations present in the skin and mucosal surface of the nail beds, nose, gastrointestinal tract, lungs and brain. Epistaxis is the common presentation symptom, which may require multiple hospital admissions and blood transfusions. It is extremely rare disease in our population. We report 4 cases of HHT who presented to us with moderate to severe epistaxis and how we managed these patients.
Catheter-related bloodstream infections caused by Kodamaea ohmeri are generally not considered due to the relative scarcity of reported cases. This is a case of an 85-year-old man with poorly controlled diabetes mellitus who was initially admitted to our hospital for diabetic ketoacidosis. An internal jugular catheter was inserted as part of the initial management. A week later the patient developed a temperature spike and a yeast identified as Kodamaea ohmeri by ID 32 C (bioMérieux, France) was isolated from both his central and peripheral blood cultures. The catheter was removed and the patient was treated with fluconazole despite the organism’s relatively high minimum inhibitory concentration (2 μg/mL) to this antifungal. The fungemia resolved following a 2-weeks course of fluconazole.
Introduction: Epilepsy remains a stigmatised disease across geographical and temporal boundaries. Very little is known about epileptic stigma (ES) in cross-cultural settings. The aim of this study was to assess the prevalence of perceived stigma and factors associated with it, among patients with epilepsy (PWE) at a tertiary care referral hospital in East Coast of Malaysia. Methods: A cross sectional survey among 132 consenting PWE using pre-tested, semi-structured questionnaire in Malay/English language to assess their knowledge, attitude and practices (KAPs). Results: Among 132 respondents, 51.5% were male and 48.5 % were female. Their age ranged from 14 to 70 years (mean=31.6±13.41). Majority (53.8%) of them were aged 30 years or younger. The median number of years they had epilepsy was 8.0 (IQR 4.0-18.8) years and average duration of seizure prior to seeking medical attention was 1.0 (IQR 0.3 - 4.5) year. Most of them (90.9%) did not know the cause of epilepsy; however nearly all (91.7%) believed that it was a disease of the
brain. Higher education level respondents possessed significantly higher KAP scores compared to lower education level respondents (p
Introduction: Burst fracture results from compression failure of both the anterior and middle columns under
substantial axial loads. Conservative treatment was a method of treatment for fractures without
neurological deficit. This cross sectional study was designed to evaluate the functional and radiological
outcome of patient with thoracolumbar burst fracture treated conservatively. Methods: 40 cases were
recruited from January 2013 till December 2015. They were followed-up with minimum period of 1 year and
evaluated for the functional (Oswetry Disbility Index) and radiological outcomes (kyphotic angle deformity
and anterior body compression). Results: 20 patients were treated with body cast made form plaster of
Paris and remaining 20 patients with fiberglass cast. In plaster of Paris group, mean kyphotic angle
deformity at last follow up was 16.60 ± 2.95 with a mean improvement 4.45 degree and anterior body
compression at last follow up was 30.35% ± 10.2 with mean improvement of 9.30%. In fiberglass group, mean
kyphotic angle deformity at last follow up was 15.55 ± 3.38 with a mean improvement 7.25 degree and
anterior body compression at last follow up was 25.90% ± 7.81 with mean improvement of 3.45%. The
functional outcome showed Oswetry Disability Index (ODI) score in plaster of Paris group was 23.70 (SD =
7.82) and in fiberglass group was 18.50 (SD = 5.94). Conclusions: Application of body cast using a fiberglass
material give better radiological outcome hence less pain, more functional and higher patient’s satisfaction
as compared to plaster of Paris.
Introduction: The metabolic syndrome comprises a collection of cardiovascular disease risks, which has been demonstrated to predict type 2 diabetes mellitus and cardiovascular disease. Metabolic syndrome is a crucial health concern in Malaysia, with a prevalence of about 42.5% in the general population based on the ‘Harmonized’ definition. The aim of this study was to ascertain the association between socioeconomic status among Malaysian government employees with metabolic syndrome, compared with those without metabolic syndrome. Furthermore, this study also aimed to ascertain the associated obesity indicators for metabolic syndrome among employees—explicitly body mass index, waist circumference, waist-to-hip ratio, body fat percentage, fat mass index, and waist-to-height ratio. Methods: This cross-sectional study was
undertaken at government agencies in Putrajaya, Malaysia, via multi-stage random sampling. A total of 675 government employees were randomly sampled from a list of 3,173 government employees working in five government agencies under five geographical areas. Data on socioeconomic status, anthropometric, biochemical, and clinical assessments were collected. Results: Employees who were males had higher metabolic syndrome prevalence compared to their counterparts (p=0.019). In addition, employees aged between 20 to younger than 30 years had lowest metabolic syndrome prevalence (p=0.002). The risk of having metabolic syndrome was almost 10 times more likely in men with a waist-to-hip ratio of ≥0.90 compared to men with a waist-to-hip ratio of
Introduction: Caring for those with dementia affects the quality of life for both the caregivers and the patients themselves, particularly in the informal care system here in Malaysia. To date, only a few studies have explored from the family caregivers’ perspectives in the communities of different cultural background. The purpose of this study is to describe the Malaysian family caregivers’ perspectives of their experiences in providing care to for their family members suffering from moderate to severe dementia in Kuala Lumpur, Malaysia. Methods: This qualitative study involved in-depth individual interviews with twelve caregivers to patients with moderate to severe dementia. Participants were recruited via purposive sampling from the outpatient psycho-geriatric clinic at UKM Medical Centre, Kuala Lumpur. All interviews were audio-recorded and transcribed verbatim. Transcribed data was later analysed using a thematic approach. Results: Four themes identified in this study were; i) the feeling that ‘it is like caring for a baby’, ii) the caregivers’ perception of inadequate knowledge and skills, iii) the need for caregivers’ support system and iv) the importance of spirituality in enhancing care giving experiences. Conclusions: The framework of care shared by the caregivers in this study demonstrated strong cultural and spirituality influences in addition to the common issues of the challenges in managing the behavioural and psychological symptoms in people with dementia. Hence, culture and spirituality aspects should be addressed in the development of appropriate intervention to manage the needs of informal caregivers in this community.
Introduction: The oil extract of black cumin seeds Nigella sativa (NSO) demonstrated considerable
preservation of spatial cognitive functions in rats subjected to chronic brain hypoperfusion (CBH). The hippocampal CA1 region pyramidal cells are the earliest neurons suffering neurodegeneration following CBH. Objective: The current study was devoted to assess the protective effects of Nigella sativa (NSO) treatment on CA1 hippocampal pyramidal cells of rats subjected to chronic brain hypoperfusion (CBH) that was achieved through permanent two vessel occlusion (2VO) procedure. Methods: Twenty four rats were equally divided into three groups; sham control, untreated 2VO and NSO treated group (2VO with daily oral NSO treatment. After the 10th postoperative week coronal sections of the hippocampus were collected for histopathological and electron microscopical examinations. Results: The number of viable pyramidal cells within CA1 hippocampal region in sham control and NSO treated groups was significantly higher than that of untreated 2VO group, while the difference was not significant when comparing the viable pyramidal cells number of sham control with NSO treated groups. Furthermore, 2VO group showed marked intracellular ultrastructural distortions that were less pronounced in NSO treated group. Conclusion: NSO displayed a robust potential to protect hippocampal pyramidal cells from CBH induced neurodegeneration putting forward its prospective neuroprotective activity against age related cognitive decline of Alzheimer’s disease and vascular dementia.
Introduction: Astrocytic gliomas are the most common and lethal intracranial brain tumours and rely on angiogenesis for the tumour development. Endothelial progenitor cells (EPCs) contribute to the angiogenesis of glioma tumour. Objectives: The study aimed to investigate the matured circulating endothelial cells population in the peripheral blood mononuclear cells (PBMCs) and its associations with tissue resident angiogenic cells in astrocytic glioma patients. Methods: A total of 22 astrocytic glioma patients were recruited from Hospital Universiti Sains Malaysia. Tumour were sliced and stained with CD133+ and VEGFA+ for angiogenic cells (n=22). The circulating (CD133-/VEGFR2+) matured endothelial cells in PBMCs (n=22) were quantified using FACS. The paired t-test and Pearson correlation test were used for the data analysis. Results: The angiogenic cells in brain tumour tissue were significantly higher compared to adjacent normal brain tissue (median 1.07±0.96% vs. median 0.69±0.68%; Wilcoxon signed rank test Z=-3.100; p=0.002). Positive correlation was found between the angiogenic cells of brain tumour tissue and adjacent normal brain tissue (Spearman’s rho correlation test, r=0.56; p=0.007). Significant positive correlation was found between matured endothelial cells in peripheral circulating systems and angiogenic cells in tumour of astrocytic glioma patients (Pearson correlation test, r=0.60, p=0.003).Conclusion:The findings of the study give support to the possible roles of EPCs in astrocytic glioma patients. Thus targeting tissue resident angiogenic cells and matured circulating endothelial cells by antiangiogenic treatment might be useful to prevent the tumour growth.