Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population

BACKGROUND: Gilbert syndrome is caused by defects in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene. These mutations differ among different populations and many of them have been found to be genetic risk factors for the development of neonatal jaundice. OBJECTIVES: The objective was to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA)7TAA (the most common cause of Gilbert syndrome in Caucasians), G71R (more common in the Japanese and Taiwanese population), and G493R (described in a homozygous Malay woman with Crigler-Najjar syndrome type 2) in a group of Malaysian babies with hyperbilirubinemia and a group of normal controls. METHODS: The GeneScan fragment analysis was used to detect the A(TA)7TAA variant. Mutation screening of both G71R and G493R was performed using denaturing high performance liquid chromatography. RESULTS: Fourteen out of fifty-five neonates with hyperbilirubinemia (25%) carried the A(TA)7TAA mutation (10 heterozygous, 4 homozygous). Seven out of fifty controls (14%) carried this mutation (6 heterozygous, 1 homozygous). The allelic frequencies for hyperbilirubinemia and control patients were 16 and 8%, respectively (p=0.20). Heterozygosity for the G71R mutation was almost equal among both groups (5.5% for hyperbilirubinemia patients and 6.0% for controls; p=0.61). One subject (1.8%) in the hyperbilirubinemia group and none of the controls were heterozygous for the G493R mutation (p=0.476). CONCLUSIONS: The A(TA)7TAA seems more common than the G71R and G493R mutations in the Malaysian population.     

Effect of AlF3 on the Density and Elastic Properties of Zinc Tellurite Glass Systems

This paper presents the results of the physical and elastic properties of the ternary zinc oxyfluoro tellurite glass system. Systematic series of glasses (AlF₃)_x(ZnO)_y(TeO₂)_z with x = 0–19, y = 0–20 and z = 80, 85, 90 mol% were synthesized by the conventional rapid melt quenching technique. The composition dependence of the physical, mainly density and molar volume, and elastic properties is discussed in term of the AlF₃ modifiers addition that are expected to produce quite substantial changes in their physical properties. The absence of any crystalline peaks in the X-ray diffraction (XRD) patterns of the present glass samples indicates the amorphous nature. The addition of AlF₃ lowered the values of the densities in ternary oxyfluorotellurite glass systems. The longitudinal and transverse ultrasonic waves propagated in each glass sample were measured using a MBS8020 ultrasonic data acquisition system. All the velocity data were taken at 5 MHz frequency and room temperature. The longitudinal modulus (L), shear modulus (G), Young’s modulus (E), bulk modulus (K) and Poisson’s ratio (σ) are obtained from both velocities data and their respective density. Experimental data shows the density and elastic moduli of each AlF₃-ZnO-TeO₂ series are found strongly depend upon the glass composition. The addition of AlF₃ modifiers into the zinc tellurite causes substantial changes in their density, molar volume as well as their elastic properties.     

Nuclear factor‐kappa B as a promising target for selenium chemoprevention in rat hepatocarcinogenesis

Background and Aims: Selenium's molecular mechanism for cancer chemoprevention remains unknown. We aimed to study the gene expression of nuclear factor‐κB (NF‐κB), tumor growth factor‐α (TGF‐α) and cyclin D1 and the effects of sodium selenite using preventive and therapeutic approaches in chemically‐induced hepatocarcinogenesis in rats. Methods: Rats were divided randomly into six groups: negative control, positive control (diethyl nitrosamine [DEN] + 2‐acetylaminofluorene [2‐AAF]), preventive group, preventive control (respective control for preventive group), therapeutic group and therapeutic control (respective control for therapeutic group). The relative gene expression of NF‐κB, TGF‐α and cyclin D1 in liver tissues were measured using real‐time polymerase chain reaction. Results: The findings showed that the gene expression of NF‐κB in the preventive group and its respective control was significantly lower (P < 0.05) when compared with both the negative and positive controls. However, the expression of NF‐κB in the positive controls and therapeutic group was significantly higher (P < 0.05) when compared with the negative controls. The expression of TGF‐α and cyclin D1 was insignificant in all groups. Conclusion: The inhibition of the NF‐κB pathway in the initiation phase of hepatocarcinogenesis could be a promising target for selenium chemoprevention. However, further studies are required.     

Field evaluation on the effectiveness of a modified approach of chemical fogging against the conventional fogging in controlling dengue outbreak

A field evaluation on the effectiveness of a modified approach of chemical fogging of insecticides against the conventional method was carried out in the Seremban district within the state of Negeri Sembilan, Malaysia from 7th February 2003 to 7th September 2003. In the 3 months period, November 2002 to January 2003, prior to institution of modified approach of chemical fogging, 27 of 42 (64.3%) dengue outbreaks were successfully controlled within the stipulated time frame of 14 days by the conventional approach of thermal chemical fogging. However, during the period when the modified approach of chemical fogging was instituted, 25 of 27 (92.6%) dengue outbreaks within the same district were successfully controlled within the 14-days time-line. Statistically, the modified approach of chemical fogging significantly improved the success rate of achieving dengue outbreak control within the stipulated time frame (chi2 = 5.65, p = 0.01745). The modified approach of chemical fogging also appeared to reduce the number of dengue cases recorded in the same district. This small pilot study shows that the modified approach of chemical fogging reduced cost in carrying out each fogging activity to control dengue outbreak. It also substantially reduced the required time taken to complete each fogging activity in comparison to the conventional approach. Thus, it enabled similar number of workers to cover more localities simultaneously affected by the outbreaks. In addition, the modified approach reduced the exposure time to hazardous insecticides for each worker doing hand-held thermal fogging.     

Scrotal mass: a rare complication of ventriculoperitoneal shunt

Summary: Ventriculoperitoneal shunts are associated with multiple complications. Among them are disconnection and migration of the tubing into the peritoneal cavity. Here we describe a case of a fractured ventriculoperitoneal shunt which migrated and coiled in the scrotum, masquerading as a scrotal swelling. Removal of the shunt via a scrotal incision was performed concomitantly with repair of the hernia sac.     

Malaysian National Cardiovascular Disease Database (NCVD) – Acute Coronary Syndrome (ACS) registry: How are we different?

Objective

The Malaysian NCVD-ACS (National Cardiovascular Disease Database-Acute Coronary Syndrome) registry attempts to determine the incidence and demographic profile of patients with ACS and to identify high risk group among them. It provides a comprehensive view to assess treatment strategies and adherence to existing guidelines for ACS patients; which can help in future development. It also aims to facilitate research using this database.

Methods

The study included patients with ST-segment elevation myocardial infarction (STEMI), non-ST-elevation myocardial infarction (NSTEMI) and unstable angina (UA) admitted to 11 participating sites in Malaysia from 1st January 2006 to 31st December 2006. The data were analyzed in terms of characteristics, clinical presentation, treatment, in-hospital outcome and 30-day outcome.

Results

A total of 3422 patients were enrolled, with male to female ratio of 3:1, mean age of 59 ± 12 years and mean BMI of 25.8 ± 4.4 kg/m². Among total study population, 96% had at least one established cardiovascular risk factor. In STEMI population, 70% received fibrinolytic therapy and 8% proceeded for primary percutaneous coronary intervention (PCI). Mean door-to-needle time for fibrinolytic therapy was 103 ± 143 min. Medical management was conducted for 86% of NSTEMI and 91% UA patients, with intervention for 14% and 9% respectively. The overall in-hospital mortality and 30-day mortality were 7% and 8% respectively.

Conclusion

In our NCVD-ACS registry, when compared with other registries, the subjects were much younger at presentation and had higher prevalence of established cardiovascular risk factors, indicating the importance of primary prevention programme. Majority of the patients were managed medically, with low rates of cardiac interventions, the factor being driven largely by availability of resources. Mean door-to-needle time was much higher than the recommended guidelines, an issue that needs attention. The results indicate many opportunities for improvement of in-hospital and 30-day mortality.