Recently, molecular testing for GJB2 mutations has become the standard of care for the diagnosis of patients with non syndromic hearing impairment of unknown cause. The aims of this study are to determine the association between GJB2 mutation and GJB6 and to report the variation of mutations in deaf students who have heterozygous GJB2. This retrospective study was conducted at Universiti Kebangsaan Malaysia Medical Center (UKMMC). Data was collected from previous files and records from Tissue Engineering and Human Genetic Research Group Laboratory. Approval from Ethical Committee was obtained prior to the study. A total of 138 students have been screened in previous studies in UKMMC for the presence of GJB2 mutations as a cause for hearing loss. Thirty four of the 138 subjects have GJB2 mutations; 2 showed homozygous mutations whereas another 32 were heterozygous for GJB2 gene mutation. Only 31 DNA samples of students presented with sensorineural hearing loss with heterozygous mutation in GJB2 gene were included in this study. The sequencing results obtained were analyzed. The degree of hearing loss of those students with association between GJB2 mutation and GJB6 mutation will be discussed. Five out of 31 subjects (16.2%) have mutations in their GJB6 gene, suggesting a digenic inheritance of GJB2/GJB6 mutation. In total, four novel mutations were identified; E137D (n=1), R32Q (n=1), E101K (n=1) and Y156H (n=1) and one mutation deletion; 366delT (n=1). All students with association GJB2 mutation and GJB6 showed severe to profound hearing loss in both ears. Interestingly this study not detected the large deletion of 342 kb in GJB6 gene suggesting that the mutation is very rare in this region compared to certain parts of the world.
Asymmetrical eyelid skin crease may be mistaken for ptosis due to apparent narrowing of the palpebral fissure in the eye without the skin crease. This study describes a series of patients who were mistakenly referred for ptosis operation as a result of absent skin crease.
The aim of this study was to determine the prevalence of symptoms and problems in hospitalized hematological cancer patients. A cross-sectional design was carried out with 105 respondents in Ampang hospital in Kuala Lumpur. The European Organization for Research and Treatment of Cancer Quality Of Life questionnaire (EORTC QLQ-C30) was used. Patients with a minimum response of "a little" were defined as having a symptom/problem while patients with a response of "quite a bit" were classified as having a "severe symptom/problem". The four most prevalent symptoms/problems identified were fatigue, financial difficulties, reduced role function and reduced social function. Multiple myeloma patients (MM) were identified as having the most symptoms/problems.
OBJECTIVE: The aim of this study was to compare high-sensitivity C-reactive protein (hsCRP) and Lipoprotein(a) levels [Lp(a)] levels between diabetic and non-diabetic patients with coronary artery disease (CAD).
STUDY DESIGN: Cross sectional Study.
PLACE AND DURATION OF STUDY: This study was conducted in the department of Physiology of College of Medicine & King Khalid University Hospital, King Saud University, Riyadh between August 2006 and December 2007.
METHODS: One hundred and three individuals with CAD and 30 healthy individuals matched for age and BMI were studied. CAD patients were divided into two groups based on presence (n=62) and absence (n=41) of type 2 diabetes mellitus. Overnight fasting blood samples were collected, and analyzed for total cholesterol (TC), Triglycerides (TG), Low density Lipoprotein (LDL) and High density lipoprotein (HDL), Lp(a) and hsCRP. Data about CAD severity was obtained from medical records.
RESULTS: Both groups of CAD without and with DM had significantly higher levels of Lp(a) [mg/dl] (25.58 +/- 25.99, 25.90 +/- 24.67 respectively) and hsCRP [mg/dl] (0.52 +/- 0.71, 0.82 +/- 0.78 respectively) when compared with healthy control subjects (Lp(a) =16.93 +/- 15.34 & hsCRP=0.27 +/- 0.21) [p<0.05]. Lp(a) levels between the two CAD groups were non significant. While, hsCRP levels were significantly high in CAD with DM compared to those without DM [p<0.05]. Gensini Score of CAD severity was also higher in CAD with DM [67.60 +/- 45.94] than those without DM [52.05 +/- 42.27, p<0.05].
CONCLUSION: Elevated Lp(a) and hsCRP levels are associated specifically with angiographically defined CAD. However, hsCRP elevation but not Lp(a) is also associated with CAD in type 2 diabetes mellitus. Measurement of hsCRP and Lp(a) may be considered optional markers for better prediction of cardiovascular risk.
Knowledge of the characteristics of older adults with type 2 diabetes mellitus (T2DM) is indispensible for improvement of their care. A cross-sectional study in two rural public primary healthcare centres in Malaysia identified 170 actively engaged older patients with T2DM, with suboptimal glycaemic control and frequent hypoglycaemia. The prevalence of multiple co-morbidities, complications of T2DM, high cardiovascular risk, neurological, musculoskeletal and visual deficits suggested high risk of disabilities and dependency but not yet disabled. This short window for interventions presents as an opportunity for development of a more comprehensive approach extending beyond glycaemia control to risk management, preventing functional loss and continuity of social participation.
Study site: Klinik Kesihatan, Selangor, Malaysia
HLA-DQA1, -DQB1, and -DRB1 gene polymorphism were analyzed to study type 1 DM susceptibility in Malay patients from Southeast Asia (Malaysia and Singapore). Patients showed significant increases in the occurrence of DQA1*0501 (50.7% vs. 20.4%; RR = 3.97; Pc < 0.01), DQB1*0201 (48% vs. 19.1%; RR = 3.86; Pc < 0.05), and DRB1*0301 (38.7 vs. 6.8%; RR = 8.36; 95% Pc < 0.05). Conversely, significant decreases were noted in the occurrence of DQA1*0601 (14.7% vs. 35.2%; RR = 0.33; Pc = 0.008) and DQB1*0601 (4% vs. 23.5%; RR = 0.16; Pc < 0.05) in type 1 DM patients. Using a logistic regression model, we derived a risk prediction model for type 1 DM in our indigenous Malay population based on the identified HLA genotypes. The RR for type 1 DM increases by a factor of 5.68 for every unit increase in the number of DRB1*0301 allele (P < 0.001), and decreases by a factor of 0.18 per unit increase in the number of DQB1*0601 allele (P < 0.001). After adjusting for these two HLA genotypes, DQA1*0501, DQB1*0201 and DQA1*0601 were not statistically significant as risk predictors. The lower incidence of type 1 DM in the Malay population may be contributed by the genotypic combinations of DR and DQ genes as well as the linkage disequilibria between susceptible and protective alleles.
To review the long term outcome of Uvulopalatopharyngoplasty (UPPP) for obstructive sleep apnoea syndrome in a tertiary referral centre. 38 records were traced where UPPP was done from July 2000 to December 2007. 14 patients were followed up for one to seven years where the Epworth sleepiness scale was scored, long term side effects documented and post operative muller's manoeuvre done. Success of UPPP is defined as a reduction in apnoea hypopnea index (AHI) more than 50%. Sixty percent (60%) were successfully treated with UPPP in the long term. Mean ESS was significantly reduced from 12 +/- 6 to 7 +/- 4. 11 out of 14 patients (78.5%) were reported to develop long term side effects of UPPP, the highest being velopharyngeal insufficiency (42.8%). In conclusion, UPPP is effective in improving symptoms of OSA in the long term. However, in view of its side effects, uvula preserving surgery should be considered as a surgical option.
Patient's satisfaction has become increasingly important as patients evaluate healthcare services for both medical cost and quality. The purpose of this study was to measure the prevalence and the factors influencing caregivers' satisfaction. A cross sectional study of 262 respondents using universal sampling method was conducted at the paediatric clinics of Universiti Kebangsaan Malaysia Medical Centre (UKMMC). Overall, 90.5% were satisfied with the services provided. Satisfaction rates based on various healthcare delivery domains were: 95.0% for communication skills, 88.5% for interpersonal aspect, 83.6% for technical quality, 82.1% for financial aspect, 72.9% for time spent with doctors and 64.9% for ease of contact. This study shows that the caregivers (an unpaid person who helps a person cope with disease) were highly satisfied with the communicational aspect delivered by the clinic. However, there is still room for improvement on ease of contact domain and waiting time in order to produce high quality service.
Study site: Paediatric clinic, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM)
The management of irreducible rectal prolapse is controversial. Surgeons may attempt conservative management by application of sugar. When surgery becomes inevitable the choice of procedure varies. We reviewed eight cases and noted the clinical findings and the results of conservative and surgical management. In four cases sugar was applied first, and failed. Emergency surgery always gave good outcomes. The procedures included simple reduction, rectopexy, laparotomy with resection, Delorme's repair, and perineal resection. Our experience and review of the literature indicate that surgery should be performed early in irreducible prolapse. Perineal resection may be the most suitable emergency procedure.
Classical dengue fever is characterized by the clinical features of fever, headache, severe myalgia and occasionally rash, which can also be caused by a number of other viral and bacterial infections. Five hundred and fifty eight patients who fulfilled the criteria of clinical diagnosis of acute dengue from 4 government outpatient polyclinics were recruited in this prospective field study. Of the 558 patients, 190 patients were categorized as acute dengue fever, 86 as recent dengue and 282 as non-dengue febrile illnesses based on the results of a number of laboratory tests. Epidemiological features of febrile patients showed that the mean age of patients in the dengue fever group was significantly younger in comparison with patients in the non-dengue group. There was no significant difference between the two groups with respect to gender but there was significant ethnic difference with foreign workers representing a higher proportion in the dengue fever group. Patients with acute dengue fever were more likely to have patient-reported rash and a history of dengue in family or neighbourhood but less likely to have respiratory symptoms, sore-throat and jaundice in comparison to patients with non-dengue febrile illnesses. As with patients with dengue fever, patients in the recent dengue group were more likely to have history of patient-reported rash and a history of dengue contact and less likely to have respiratory symptoms in comparison to patients with non-dengue febrile illnesses. In contrast to patients with dengue fever, patients in the recent dengue group were more likely to have abdominal pain and jaundice in comparison to non-dengue febrile patients. The finding strongly suggests that a proportion of patients in the recent dengue group may actually represent a subset of patients with acute dengue fever at the late stage of illness.
Study site: Klinik Kesihatan Seksyen 7, Shah Alam; Klinik Kesihatan Kelana Jaya, Petaling Jaya; Klinik Kesihatan Sg. Buloh; Klinik Kesihatan Jinjang, Selangor, Kuala Lumpur, Malaysia
Scoring systems such as POSSUM and P-POSSUM have been developed to help predict mortality and morbidity in patients. The ratio of observed-to-predicted (O/P ratio) mortality and morbidity has been used as a performance indicator to compare different procedures, clinicians or hospitals. The aim of this study was to assess the predictive value of POSSUM compared with P-POSSUM in patients undergoing laparotomy in Queen Elizabeth Hospital, Sabah.
A prospective randomized double-blind study was conducted which involved, 60 ASA 1-2, aged 18-65 years patients, who had elective or emergency orthopaedic surgeries of the upper limbs. They were randomly divided into two groups: Group I received 30 mls of 0.5% ropivacaine; and Group II received 0.5% levobupivacaine for infraclavicular brachial plexus block based on the coracoid approach. The onset time required for sensory block of all required dermatomes (C5-T1) and the onset time of motor block were documented. Based on the Visual Analogue Score, pain scores were recorded every 30 minutes during surgery and at the 6th hour. The mean onset time (SD) for sensory block with ropivacaine was 13.5 +/- 2.9 minutes compared to levobupivacaine at 11.1 +/- 2.6 minutes (p = 0.003). The onset time for motor block was 19.0 +/- 2.7 minutes in Group I compared to 17.1 +/- 2.6 minutes (p = 0.013) in Group II. Patients in both groups experienced both mild to moderate pain at the 6th hour. In conclusion, there were statistically significant differences in the onset-time for sensory and motor block. However, there was no statistically significant difference in terms of effectiveness of analgesia at the 6th hour. Although the clinical advantage of levobupivacine is not substantial, its safety profile becomes a major consideration in the choice of local anaesthetic for brachial plexus block where a large volume is required for an effective result.
Psoralen and ultraviolet light A (PUVA) was the mainstay of vitiligo treatment before the introduction of narrowband UVB(NB-UVB). Eighteen patients treated with NB-UVB in Hospital Kuala Lumpur were retrospectively analyzed. Eight patients had Fitzpatrick skin phototype III and 10 with phototype IV. The mean duration of disease was 7.3 +/- 5.4 years, and the mean body surface area affected was 19.3 +/- 16.2%. Mean duration of treatment was 14.3 +/- 9.6 months, number of session 113.5 +/- 88.6 times and cumulative dose 111.7 +/- 108.5 J/ cm2. Concomitant topical steroid was used in 88.9% patients. Repigmentation was moderate in 6 (40%) patients, good in 3 (20%), while 3 (20%) achieved excellent results. One patient (6.6%) showed no response and 2 (13.3%) showed poor repigmentation. Three patients developed side effects. NB-UVB phototherapy results in satisfactory repigmentation in our vitiligo patients and should be offered as a treatment option.
The study's aim was to construct and validate a diabetes mellitus knowledge questionnaire in Bahasa Malaysia for Orang Asli (OA-DKQ). The questionnaire was administered to; case (Orang Asli) and control (administrative staff) groups at baseline and retested two weeks later. The Cronbach's Alpha was used to determine internal consistency and intraclass correlation coefficient (ICC) was used to determine test-retest reliability. The OA-DKQ has an internal consistency of 0.806. These findings suggest the OA-DKQ is an acceptable instrument to assess knowledge and preventive behaviour in Orang Asli (86 words).
We report a case of a patient with hypertension and ischaemic heart disease on anti-platelet treatment, who developed uniocular profound visual loss from a submacular haemorrhage secondary to valsalva retinopathy. He was treated with a combination of intravitreal recombinant tissue plasminogen activator (rtPA) and sulphur hexafluoride (SF6) gas followed by strict prone positioning. He demonstrated significant displacement of the haemorrhage and improvement of vision postoperatively.
Splenectomised thalassaemia patients are at risk of developing sepsis. As the infection may be life-threatening, treatment should be sought and given promptly. A retrospective study was performed amongst our thalassaemia major patients who were splenectomised. The vaccination status of each patient and the types of infections seen were reviewed to obtain a local perspective. In our cohort of 49 splenectomised patients, 25 patients required hospitalization for the treatment of infection. There were a total of 40 febrile episodes within this hospitalised group of which 27.5% were microbiologically documented infection with bacteraemia. The predominant causative organisms were gram negative rods and three patients succumbed to overwhelming septicaemic shock as a result of delayed presentation. Sixty percent of the febrile episodes were clinically documented infection and comprised mainly upper respiratory tract infections. Based on the spectrum of infections seen, there is a need to improve the patients' awareness level so that early treatment is sought. There is also a need to re-address the approach towards vaccination in this immunocompromised group of patients by administering a booster pneumococcal and influenza vaccination in an attempt to reduce morbidity.
This is a retrospective cross-sectional study based on the database of clusters of patients with clinical diagnosis of chikungunya (CHIK) that were referred to the National Public Health Laboratory for diagnostic investigations from January 2006 to December 2009. Of the 13,759 referred patients, a total of 6314 (45.9%) patients were laboratory confirmed to have CHIK and 7445 (54.1) patients were considered as clinical cases of CHIK by epidemiological link. Epidemic curves plotted using date of onset of illness for all referred clusters of cases showed that there were three unrelated outbreaks of CHIK in Malaysia from 2006 to 2009. There were two small outbreaks that occurred within the state of Perak in 2006. The cluster of cases in 2008 and 2009 were of related outbreak which started in Johor state and subsequently spread to various parts of Malaysia. The mean age of the patients was 37.0 years old and those patients in the laboratory confirmed group were significantly younger than those in the epidemiological linked group. The main presenting clinical features recorded in this study were fever, arthralgia, myalgia and rashes. Those patients in the laboratory confirmed group had a significant higher incidence of fever, arthralgia and rash than those in the epidemiological linked group.