Osteolytic disease of the bones have a myriad range of aetiology. One rare cause is Gorham’s disease or disappearing bone disease. This disease is a diagnosis by exclusion using correlation made with clinical presentation, radiological findings and histopathological confirmation. Although many different therapies have been advocated, none have been successful in fully controlling this disease. We present a case that was detected in a Chinese lady using diagnostic imaging, confirmed with computed tomography guided biopsy and successfully treated with joint reconstruction using endoprosthesis.
Osteolysis, Essential

Reactive arthritis can be an elusive diagnosis especially in the elderly. A 77-year-old lady, presented with recent history of hip pain. She had been treated for urinary tract infection caused by Chlamydia sp. and had associated weight loss. She was also investigated for possible tuberculosis and occult malignancy. CT scan abdomen/pelvis and MRI revealed peri-articular muscle inflammation. Biopsy of her hip joint failed to find the causative factor. Wholebody 18F-FDG PET/CT scan revealed increased FDG uptake at bilateral hip and shoulder joints. She recovered after an intensive course of antibiotics. Thus, she was diagnosed with reactive arthritis. Reactive arthritis is usually a diagnosis of exclusion made by a high index of suspicion and positive serology test. Molecular imaging can be an alternative investigation for joint pains in the elderly, which enables excellent anatomical and functional information to exclude more sinister conditions such as malignancy.

Introduction: Suspicious adnexal masses need to be investigated thoroughly as it may represent ovarian cancer, which is the fourth most common gynaecological cancer in Malaysia. Conventional cross sectional imaging may reveal non-specific findings, thus lead to unnecessary biopsies. 18F-Fluorodeoxyglucose positron emission tomography/ computed tomography (18F-FDG PET/CT) has emerged as a useful tool, for characterization of indeterminate adnexal masses. Most studies have been conducted in Western population, and little information is available in Asian population in general and Malaysian population in particular. Methods: Prospective study of women with suspicious adnexal masses, referred to the Centre for Nuclear Diagnostic Imaging, Universiti Putra Malaysia to undergo preoperative whole-body contrast-enhanced 18F-FDG PET/CT scans from January 2014 to January 2016. Subjects underwent Contrast-Enhanced Computed Tomography (CECT) scans followed by positron emission tomography (PET) scans using a hybrid scanner. Two radiologists analyzed the CECT and PET/CT images by consensus; blinded to the HPE results. Then the PET/CT findings were correlated with HPE results as the gold standard. Results: 11 wholebody PET/CT scans and 18 adnexal masses (12 HPE-proven malignant lesions and 6 benign lesions) were analyzed. The sensitivity, specificity, PPV, and NPV of CECT alone compared to PET/CT was 91.7%, 50.0%, 78.6%, and 75.0% vs. 91.7%, 100%, 100% and 85.7% respectively. Conclusions: Improved diagnostic accuracy for characterizing benign and malignant adnexal masses can be achieved using contrast-enhanced 18F-FDG PET/CT, making it a potential investigation of choice which can help in treatment planning.

Colon ; diagnostic imaging ; Humans ; Male ; Middle Aged ; Peritonitis ; diagnostic imaging ; Tomography, X-Ray Computed

The determination of HIV drug resistance mutations (DRMs) towards antiretroviral (ARV) drugs among HIV-1 treated patients with virological failure is crucial for further management of the patient. This study aimed to assess the most common genomic mutation and to analyse subtypes among the HIV-1 patients with viral load level > 1,000 copies/mL. A total of 101 virological failure HIV-1 patients from four different regions of Peninsular Malaysia with a viral load measurement facility were included in the study. Majority of patients (89.1%) have at least 1 mutation associated with clinical resistance to either protease inhibitors (PIs), nucleoside reverse transcriptase inhibitors (NRTIs) or nonnucleoside reverse transcriptase inhibitors (NNRTIs). Major resistance mutations among the patients towards NRTIs and NNRTIs were 70.3% and 18.8%, respectively. The most common mutation for NRTIs was M184V while K103N mutation was detected in the majority of patients who were treated with NNRTIs. The most commonly observed mutations for major PI and minor PI seen among the study population were V82A/T and L10V, respectively. In HIV-1 subtype analysis, CRF33_01B was the most predominant HIV-1 subtype in this study group. The vast detection of DRMs in this study emphasized the importance of genotypic resistance test in the management of HIV patients as DRMs can alter patient’s susceptibility towards ARV drugs. Further study on larger number of samples is essential for the development of a database on HIV-1 DRMs among patients that experience virological failure in Malaysia.

Introduction: Specific mutations in the epidermal growth factor receptor (EGFR) characterize a subgroup of nonsmall cell lung cancer (NSCLC) patients that may be highly responsive to receptor inhibitor therapy. 18F-FDG PET/CT scans can map the glucose metabolism and treatment response of NSCLC. Therefore, we aimed to assess the pattern of metabolic response and outcome of inoperable NSCLC treated with epidermal growth factor receptor (EGFR) inhibitors, using 18F-FDG PET/CT scan. Methods: A retrospective study of inoperable NSCLC patients on EGFR inhibitor treatment that were referred for wholebody18F-FDG PET/CT scans was conducted based on cases scanned from January 2011 to June 2014. Comparison was made among serial attenuation-corrected fused PET/CT images for all study patients throughout the course of their treatment. Comparison based on PERCIST criteria was categorized into 4 levels ie. complete response (CMR), partial response (PMR), stable disease (SMD), progressive metabolic disease (PMD). Results: Overall, there were 5 patients identified, mean age: 57.4 years old +/- 2.9 years; The median survival time from initiation of EGFR inhibitor treatment to death was 17 months. Two patients showed initial partial metabolic response (PMR), two had progressive metabolic disease (PMD) and one had complete metabolic response (CMR) after the initiation of treatment. The patient with initial CMR had relapse and PMD 5 months later. Majority of patients eventually succumbed to their illness. Conclusions: Wholebody18F-FDG PET/CT is able to assess metabolic treatment response of NSCLC towards EGFR inhibitor treatment.
Lung Neoplasms ; Carcinoma, Non-Small-Cell Lung

The 2009 pandemic infl uenza A(H1N1) was fi rst detected in Malaysia in May 2009. It quickly spread in the general population and contributed to a number of infl uenza-like illness. The objective of the study is to characterize genetic changes in early Malaysian isolates of mild and severe illness of the novel infl uenza, and to compare sequences of viruses circulating in Malaysia to those in other countries between May to September 2009. Viral isolates of 56 mild cases and 10 severe (intensive care unit or fatal) cases were sequenced for haemagglutinin (HA) and neuraminidase (NA). Genome sequencing of the viral RNA was conducted on 5 isolates (3 were from fatal cases). Highly conserved sequences with few sporadic variations were identifi ed in HA and NA. E374K and D222N were identifi ed in 2 viral isolates from patients with severe illness. Phylogenetic analysis showed close genetic relatedness to the vaccine strain A/California/07/09 and other isolates circulating worldwide during the same period. Sporadic variations were identifi ed in the viral isolates, however a larger sample size is required to make associations with disease severity.

Introduction: Internet addiction disorder (IAD) particularly the internet gaming disorder (IGD) is recognized as a type of addiction similar to substance abuse. This addiction carries similar social impact as the latter, as it can cause serious impairment of interpersonal relationship, and even deterioration of academic or occupational performances. Functional magnetic resonance imaging (fMRI) is able to act as a non-invasive objective biomarker to detect functional neuronal connectivity in areas of the brain affected by IAD by utilizing blood oxygenation level dependent (BOLD) imaging. Methods: A systematic review was conducted from original articles published from January 2014 to January 2017 that had the keywords “internet addiction” and fMRI. Results: Initial data collection had 170 articles, however after applying the inclusion and exclusion criteria, there were 34 articles in the final analysis (17 resting-state fMRI studies and 18 task-based fMRI studies). The striatal nucleus and dopaminergic system demonstrated impaired functioning in subjects with IAD. Conclusion: Task-based and resting-state fMRI are able to detect areas of the brain that are activated in subjects with internet addiction, similar to those observed in subjects with substance abuse and other addictions. This review also introduces a newly arising subtype which is smartphone addiction disorder.

INTRODUCTIONRheumatoid arthritis (RA) is a chronic, deforming arthritis that can lead to disabilities and poor quality of life. Cytokines are protein mediators of inflammation and are produced as a result of the activation of various cellular reactions. They are the final mediators and/or regulators of the inflammatory process.

MATERIALS AND METHODSThe sera from 64 RA patients were assayed for both Th-1 and Th-2 related cytokines and soluble TNF-alpha receptors (IFN-gamma, TGF-beta, TNF-alpha, IL-1beta, IL-2, IL-4, IL-6, IL-8, IL-10, IL-12, IL-18, sTNF-R1 and sTNFR2) using ELISA.

RESULTSThe pro-inflammatory cytokines (IL-1, IL-6, IL-8, IL-18 and TNF- alpha) were significantly elevated in RA patients, while TGF-beta, an immunomodulatory cytokine, was elevated in control individuals. When the RA patients were categorised as active or inactive based on DAS scores, similar cytokines profiles were observed in both RA sub-groups. However, assays of sTNF-R1 and sTNFR-2 were noted to be significantly elevated in inactive RA patients when compared to active patients.

CONCLUSIONOur findings indicate that local production of cytokine inhibitors is capable of diminishing disease activity and cytokine activity.

Adult ; Aged ; Arthritis, Rheumatoid ; blood ; pathology ; Cell Differentiation ; Cytokines ; blood ; Female ; Humans ; Male ; Middle Aged ; Receptors, Tumor Necrosis Factor, Type I ; chemistry ; Receptors, Tumor Necrosis Factor, Type II ; chemistry ; Transforming Growth Factor beta ; chemistry

INTRODUCTIONInterleukin-18 (IL-18) is a Th1 cytokine, which is postulated to play a role in systemic lupus erythematosus (SLE). Two single nucleotide polymorphisms (SNPs) in the IL-18 promoter gene region were found to influence the quantitative expression of the IL-18 protein. The aim of this study was to determine whether IL-18 promoter gene polymorphisms are associated with SLE.

MATERIALS AND METHODSOne hundred and thirteen Chinese SLE patients and 218 Chinese healthy individuals were recruited. Genomic DNA was extracted from peripheral venous blood. Sequence-specific primer PCR and restriction fragment length polymorphism (RFLP) analysis were used to genotype the DNA samples for SNP-137 and SNP- 607. The following genotypes were obtained: SNP(-607) AA, AC, CC and SNP(-137) GG, GC, CC. Plasma IL-18 concentrations of patients and control subjects were measured by enzyme-linked immunosorbent assay.

RESULTSthe frequency of SNP-607/CC genotype was significantly higher in SLE patients (Pc < 0.05) while genotype SNP-607/AC was significantly decreased in SLE patients compared to the control group (Pc <0.05). Plasma IL-18 concentrations were significantly higher in SLE patients than in control subjects (P <0.05). Both patients and control subjects with CC and AC genotypes have significantly higher IL-18 concentrations than those with AA genotype.

CONCLUSIONThe IL-18 promoter gene polymorphism SNP-607 C allele is associated with SLE and may result in the enhanced production of IL-18 protein in SLE and normal individuals.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Interleukin-18 ; genetics ; Lupus Erythematosus, Systemic ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide