With advancement in genetic studies, familial phaeochromocytoma (PCC) and paraganglioma (PGL) are increasingly being recognized. Characteristically, correlations exist between genotypes and clinical and biochemical phenotypes. We report a phaeochromocytoma in a young patient with intriguing family histories, raising the possibility of his being a familial case.
Genetic Association Studies

People with HIV have higher prevalence in the custodial settings as compared to the general population. HIV infection in many countries has been closely related to the use of illicit drugs via intravenous route. In Malaysia there are significant proportion of HIV infection are transmitted via this way. There was around 95% of HIV infected prisoners were heroin addict who injected themselves This is even more important when the use of illicit drugs has been criminalised. The criminalisation of illicit drug which has been the primary approach in tackling drug problems results in the difficulties in delivering health service to those have been detained due to the use of illicit drugs. There are growing positive evidence which shows medical and psychosocial modes of treatment for tackling drug related harms resulted in better outcomes. Issues of co-morbidity in those who use drug are also important consideration when providing mental health service to individuals with HIV infection. It is even more complex when these people are incarcerated These issues are discussed in this presentation. This will be based on researches (HARAPAN Project) which are undertaken in one of the prison facilities.

Free light chains (FLCs) are tumour markers of monoclonal gammopathies. Detection of urinary FLC or also known as Bence-Jones protein through urinary protein and its immunofixation electrophoreses (UPE and uIFE, respectively) have been considered the gold standard for its biochemical diagnosis. This is mainly due to their superior detection limits compared to their counterpart investigations in serum. However, urinalysis is limited in many ways. The emergence of serum FLC assay with markedly improved detection limit circumvents many of these problems and has gained much importance in biochemical investigations of monoclonal gammopathies. Nevertheless, they are not without limitations. This review discusses the advantages and limitations of serum and urinary FLC assays.

Background: Our objective was to investigate the association of CYP2D6 polymorphisms with symptoms and side-effects of patients with schizophrenia. Methods: The subjects were 156 patients with schizophrenia undergoing antipsychotic treatment at a psychiatric clinic. Patients with co-morbid diagnoses of substance abuse or mental retardation were excluded from the study. Psychopathology was evaluated using the Positive and Negative Symptoms Scale (PANSS). Extrapyramidal side-effects and akathisia were assessed with the Simpson Angus Scale (SAS) and the Barnes Akathisia Rating Scale (BARS), respectively. DNA was extracted from blood and subjected to PCR-genotyping. Results: We found that CYP2D6 polymorphisms were significantly associated with a subtotal negative PANSS score. In addition, CYP2D6 is not related to side-effects of antipsychotic therapy, or SAS and BARS scores. The results suggest that CYP2D6 polymorphisms may have implications in treatment response. Conclusions: Therefore, CYP2D6 may be a predictor for treatment outcomes of patients with schizophrenia. However, further investigation is required to confirm these findings in a larger sample.

Objective: The smoking rate among patients with mental health problem is higher than in the general population. Effective pharmacotherapy to treat nicotine addiction is thus needed to reduce the morbidity and mortality associated with cigarette smoking among these patients. This article reviews the literature on the suitability of varenicline for smokers with mental health problems. Methods: A search of the literature was conducted using PubMed from year 2001 to July 2009 using key words varenicline alone and varenicline and mental health. Articles chosen were narrowed to those published in English. The type of articles chosen included clinical trials, meta-analyses, case reports, and review articles. Results: The search produced a total of 322 articles on varenicline and 14 articles on varenicline and mental health. Varenicline, a new drug for smoking cessation is an α4β2 partial agonist and partial antagonist at nicotinic acetylcholine receptor. As a partial agonist, varenicline relieves craving and withdrawal symptoms that occur during smoking abstinence and also reduce the rewarding effects of smoking in patients who relapse. However, at present, there is concern regarding the neuropsychiatric side effects such as aggressive behaviour, suicidal ideation, mania and depression associated with varenicline use in patients with mental health problems, but these reports did not show a causal-link or lack of link between these symptoms and varenicline. Conclusion: Current available data support the effectiveness of varenicline to treat nicotine dependence. However its safety among smokers with mental health problems remains to be elucidated. At present, further safety assessment is needed in this patient population. Until new data is available regarding the safety of varenicline in these populations, psychiatrists and physicians prescribing this medication should be extra cautious and monitor for possible psychiatric side effects when prescribing this medication to patients with pre-existing psychiatric disorders or have vulnerability to psychoses.

Background: The dopamine D2 receptor gene (DRD2) plays a role in many diseases such as schizophrenia, Parkinson’s disease, and addictive behaviour. Methods currently available for the detection of DRD2 polymorphisms are costly and cannot detect all 8 polymorphisms of our research interest simultaneously (Val96Ala, Leu141Leu, Val154Ile, Pro310Ser, Ser311Cys, TaqI A, A-241G, and −141C Ins/Del). Therefore, we developed a nested multiplex polymerase chain reaction (PCR) for simultaneous detection of these polymorphisms. Methods: Genomic DNA was extracted from blood using standardised methods. Primers specific at the 3’-end for the polymorphic sites were designed. A two-step PCR method was developed. In the first PCR, a region from exon 3 to 4, exon 7, the promoter region, and the 3’-region of DRD2 were specifically amplified. The products were subsequently used as templates in the second PCR. Sequencing was performed to validate the test results. Results: Specific bands corresponding to the amplified product of interest were obtained. The method was reproducible and specific when used to genotype patients with schizophrenia. The amplified sequences showed 100% homology to the DRD2 sequence. Conclusion: The method was found to be simple, rapid, specific, and reproducible for the simultaneous detection of the DRD2 polymorphisms.

Subclinical hypothyroidism (SHT) is a biochemical diagnosis, defined as an elevated Thyroid Stimulating Hormone (TSH) with normal free thyroxine (FT4). It affects 4-10% of the adult population and is more prevalent in elderly women. Its commonest cause is autoimmune thyroiditis, detected by antithyroid peroxidase antibody (TPO-Ab). About 2-5% of SHT patients progress to overt hypothyroidism annually. The SHT prevalence among depressed patients ranges between 3% and 17%. This study aimed to determine the prevalence of SHT and TPO-Ab positivity among patients diagnosed with depressive disorders. It was a cross-sectional study carried out in the Universiti Kebangsaan Malaysia Medical Centre over a 12 months period. Serum TSH, FT4 and TPO-Ab were measured. Results showed that 82% of depressed patients were euthyroid, 4% had SHT, 11% had subclinical hyperthyroidism and 2% had discordant thyroid function. TPO-Ab positivity among the subjects was 7%, one of whom had SHT. In conclusion, the prevalence of SHT and TPO-Ab positivity in the study population, at 4% and 7%, respectively, were comparable to previous findings.
Depression

Introduction: Cardiovascular disease (CVD) remains the leading cause of death in Malaysia. Identification of asymptomatic at-risk individuals is often achieved by means of a risk prediction algorithm. Traditional CVD risk factors and their associated algorithms are, however, limited by residual CVD risk. High sensitivity C-reactive protein (hsCRP) has emerged as a novel CVD risk factor. This study aimed to evaluate hsCRP as an adjunct CVD risk marker among the adult Malaysian population by determining its correlation with the Framingham Risk Score (FRS). Comparison analyses were done according to sociodemographic, clinical and laboratory factors and between subjects with and without Metabolic Syndrome (MetS). Method: This cross-sectional study involved eighty-three (n=83) adults attending a health screening program at Universiti Putra Malaysia (UPM). Demographic data, anthropometric measurements and blood samples for fasting blood glucose (FBG), fasting lipid profile (FSL), glycated haemoglobin (HbA1c) and hsCRP were taken. Respondents were grouped according toFRSand the Joint Interim Statementinto 10-year CVD risk categories (low, intermediate and high) and MetS, respectively. Results: hsCRP was significantly increased in patients with high body mass index (BMI) (p=0.001), at-risk waist circumference (WC) (p=0.001) and MetS (p=0.009). Spearman’s correlation coefficient showed a significant positive correlation between hsCRP level and total FRS score (r=0.26, p<0.05) and HDL-C score (r=0.22, p<0.05). Conclusion: The significant difference of hsCRP levels across obesity levels and MetS with its modest correlation with FRS scores supported the adjunctive role of hsCRP in CVD risk prediction, most likely capturing the inflammatory pathological aspect and thus partly accounting for the residual CVD risk.

A retrospective case series was conducted to determine the clinical characteristics and bronchoscopy findings of children with foreign body aspiration in Paediatric Institute, Hospital Kuala Lumpur. Ten boys and two girls were included (range 2-177 months; median 26 months old). They commonly presented with cough (12 / 100%) and difficulty in breathing (9 / 75%). All patients had unilateral auscultatory findings and the commonest radiographic findings were unilateral hyperinflation (7 / 58.3%). The majority of foreign bodies removed was organic (8 / 66.6%) and more frequently found in the left bronchial tree (7 / 58.3%). Major complications were pneumonia (11 / 91.6%) and airway oedema (11 / 91.6%). Eight patients had delayed diagnosis due to parents unawareness (6 / 50%) and missed diagnosis (2 / 16.7%)

Pulmonary veins stenosis in a Down Syndrome infant withnormal connection pulmonary vein is rare and preciseincidence of this disease is unknown. We report a case ofprogressive multiple pulmonary vein stenosis in a DownSyndrome infant with congenital heart disease and transientmyeloproliferative leukaemia. This case-report aims toimprove awareness among physicians and sonographersof this disease and the importance of pulmonary veinassessment in congenital heart disease with unexplainedpulmonary hypertension