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.

Twenty bilio-enteric anastomoses were performed or managed from May 1990 to December 1992. Recurrent pyogenic cholangitis (RPC) and pancreatic cancer were the commonest conditions which required drainage procedures. Roux-en-Y hepatico-jejunostomy (RHJ) was performed in 9 patients, 4 for RPC, one for pancreatic cancer, another for a cholangiocarcinoma, 2 following excision of choledochal cyst and one hepatico-jejunostomy was part of a Whipple reconstruction. Roux-en-Y side to side choledocho-jejunostomy (CDJ) was performed in one patient. Choledocho-duodenostomy (CDD) was performed in 6, 4 for obstructive jaundice due to choledocholithiasis, one for RPC and one in a choledochal cyst. One patient operated elsewhere presented with complications after a CDD. Palliative cholecysto-jejunostomy (CYJ) was carried out in 4 patients with pancreatic malignancy. All benign conditions were treated by hepatico-jejunostomy and choledocho-duodenostomy, while three patients with malignant conditions were treated by hepatico-jejunostomy. Permanent subcutaneous access loops were provided when recurrent problems were anticipated, 4 in RPC and one after subtotal resection of a cholangiocarcinoma. Based on this study, we found Roux-en-Y hepatico-jejunostomy a versatile drainage procedure, which was useful in both benign and malignant diseases.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Anastomosis, Roux-en-Y ; Anastomosis, Surgical ; methods ; Child ; Cholecystostomy ; Choledochostomy ; Common Bile Duct ; surgery ; Common Bile Duct Diseases ; surgery ; Female ; Follow-Up Studies ; Hepatic Duct, Common ; surgery ; Humans ; Intestine, Small ; surgery ; Male ; Middle Aged ; Pancreatic Neoplasms ; surgery ; Retrospective Studies ; Treatment Outcome

Non-compliance to hygienic practices in contact lens wear is regarded as a significant risk factor for contact lens-related complications. Non-compliant behaviour continues to prevent efforts to improve contact lens safety despite advancements in lens materials and care solutions. The objective of this study was to identify the association between knowledge, compliance and complications of contact lens wear. A cross-sectional design was used and contact lens users among medical faculty students were identified and recruited via convenience sampling throughout October 2013 to March 2014. A total of 36 close-ended questions that focused on knowledge level, compliance to standard contact lens practice, and experience of complications were administered. A total of 188 respondents, majority of females (89.4%; n=168) participated in this study. Although majority had good knowledge level (68.1%; n=128) on care and usage of contact lens while only a small number having moderate knowledge (26.6%; n=50) and poor knowledge (5.3%; n=10), most of them were partially compliant (74.5%; n=140) to the recommended contact lens practices. However, a small group was found to be fully compliant (24.4%; n=46) and the rest being non-compliant (1.1%; n=2). There was a significant association between knowledge on contact lens usage and compliance level to standard practices (p=0.0003). In addition, a significant association also existed between compliance level to recommended practices and risk of complications from contact lens usage (p=0.023). Findings of this study showed the positive association between knowledge of contact lens usage and compliance to recommended practices and negative association between knowledge of contact lens usage and complications experienced by contact lens users. By providing basic knowledge on contact lens care and usage via education, improvement on compliance and enhancement of safety of contact lens wear could invariably be achieved.