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No screening test is ideal for detecting rheumatic diseases; diagnosis depends on appropriate history and thorough physical examination. Sometimes, laboratory investigations may be useful in confirming or ruling out rheumatic disease after a clinical diagnosis is considered. Once a rheumatic disease has been diagnosed, certain laboratory tests can help in assessing prognosis or determining the extent of the disease. Laboratory tests may also help the physician monitor certain rheumatic diseases, guide treatment or assess potential drug toxicity.

Introduction: Gout is an increasingly common medical problem. The traditional risk factors of male sex and high red meat or alcohol consumption have been joined with newer risks such as increased life expectancy, and the metabolic syndrome (hypertension, diabetes, dyslipidaemia, truncal obesity). Methods: This was a retrospective study to determine the epidemiology, clinical features, associated conditions as well as renal related conditions in existing gout patients followed-up in Rheumatology outpatient clinic, Hospital Tuanku Ja’afar, Seremban. Results: Over a three month period, we identified 54 gouty patients on our follow-up, the majority being male, Malay ethnicity, withthe age of onset in the third and fourth decades of life. Commonly associated risk factors were hypertension, hyperlipidaemia and obesity. However, underlying history of diabetes mellitus, alcohol consumption, and family history were not commonly associated with gout in our group of patients. Half of our patients had at least two or more joints involvement. About half of the patients with tophaceous gout had renal impairment. Conclusion: Our series of gout patients highlight the high prevalence of cardiovascular risk factors. The high prevalence of tophi and renal impairment is a cause for concern.

Malaysia is a developing country in the South-East Asian region with a significant burden of disability from musculoskeletal disease. Rheumatology in Malaysia is a relatively young speciality. Currently, there is approximately 1 rheumatologist per 390,000 population, mostly concentrated in the urban areas. This article aims to give a brief overview of the research in rheumatology, the healthcare system, and rheumatology training and education in Malaysia. From 1950 until mid-2019, there were 547 publications about rheumatological conditions from Malaysia, with a 27-fold increase in the numbers from the period before 1980 compared to 2010-2019. Although there is universal access to healthcare through the public (government funded) hospitals and clinics, as well as a system of private healthcare, funding for expensive biological therapies remain patchy and scarce, leading to significant under-utilization of such treatments in rheumatology patients. Training in rheumatology in Malaysia is well established with a formalised training curriculum introduced in 2004, followed by the introduction of training in musculoskeletal ultrasound in 2006. To improve care for patients with musculoskeletal conditions, there has been regular continuing educational meetings and courses, not just for rheumatologists, but also for other medical professionals, as not all areas in Malaysia have easy access to rheumatology services. Thus overall, despite the small number of rheumatologists, rheumatology in Malaysia has made encouraging progress over the past 2 decades, but improvements in patient care, training, education and research need to continue in the future.

Objectives: To assess the content, authorship and study design of rheumatological publications written by Malaysian authors or about rheumatological conditions in Malaysia., Methods: The Malaysian Medical Repository (MyMedR), a web-based database of Malaysian health and medical publications, and Scopus were searched to retrieve rheumatological publications from Malaysia, for the period 1950 until 30 June 2019. The type and number of publications in each rheumatological subject area and the overall trend of publication numbers and citations were analysed., Results: 547 publications were found for the time period studied. There was a 27-fold increase in the number of publications from the period up to 1980 compared to 2010-2019. The median number of citations per paper was 5, but unlike the number of publications, there was only a slight increase in the number of citations with time. 84.5% of the papers were cited at least once. The top 3 conditions generating the most publications were systemic lupus erythematosus, 36.7%, followed by rheumatoid arthritis, 17.0%, and osteoporosis, 13.9%., Conclusions: The number of rheumatological publications in Malaysia have increased over time, especially in the last decade. However, the average number of citations per publications remains low and the majority of publications are in journals with low impact factors. Thus, the quality of rheumatological publications from Malaysia can be further improved.Key Points• There have been only a limited number of bibliometric analysis of rheumatology publications from Asia.• In Malaysia, the number of rheumatology publications has increased over time.• However, there is still room for improvement in terms of the quality of the publications.

We evaluated the role of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in transplant-naïve patients with relapsed/refractory Hodgkin lymphoma (HL) who failed to attain metabolic complete response (mCR) to 1 to 2 lines of salvage chemotherapyThose with residual but nonprogressive disease assessed by positron emission tomography/computed tomography scanning were eligible. An additional 1 to 2 cycles of salvage therapy were permissible in those with progressive disease or when required to bridge to allo-HSCT, with additional imaging at baseline before transplantation. Conditioning consisted of carmustine, etoposide, cytarabine, melphalan, and alemtuzumab. Donor lymphocyte infusions (DLI) were administered for mixed chimerism or residual or relapsed disease. Eleven patients had sibling donors, 13 had HLA-matched unrelated donors, and 7 had HLA-mismatched unrelated donors. There were no graft failures, and no episodes of grade 4 acute graft-versus-host disease (GVHD); only 19.4% of patients had grade 2 to 3 GVHD, and 22.2% had extensive chronic GVHD. The non-relapse mortality rate was 16.1% (95% confidence interval [CI], 7.1%-34.5%). Relapse incidence was 18.7% (95% CI, 8.2%-39.2%). The study met its primary objective, with a 3-year progression-free survival of 67.7% (95% CI, 48.4%-81.2%). Survival outcomes were equivalent in those with residual metabolically active disease immediately before transplantation (n = 24 [70.8%; 95% CI, 17.2%-83.7%]). Two of the 5 patients who relapsed received DLI and remained in mCR at latest follow-up, with a 3-year overall survival of 80.7% (95% CI, 61.9%-90.8%). We demonstrate encouraging results that establish a potential role for allo-HSCT in selected high-risk patients with HL. This trial was registered at www.clinicaltrials.gov as #NCT00908180., (© 2019 by The American Society of Hematology.)

Determining the underlying cause of persistent eosinophilia is important for effective clinical management but remains a diagnostic challenge in many cases. We identified STAT5B N642H, an established oncogenic mutation, in 27/1715 (1.6%) cases referred for investigation of eosinophilia. Of the 27 mutated cases, a working diagnosis of hypereosinophilic syndrome (HES; n = 7) or a myeloid neoplasm with eosinophilia (n = 20) had been made prior to the detection of STAT5B N642H. Myeloid panel analysis identified a median of 2 additional mutated genes (range 0-4) with 4 cases having STAT5B N642H as a sole abnormality. STAT5B N642H was absent in cultured T cells of 4/4 positive cases. Individuals with SF3B1 mutations (9/27; 33%) or STAT5B N642H as a sole abnormality had a markedly better overall survival compared to cases with other additional mutations (median 65 months vs. 14 months; hazard ratio = 8.1; P < 0.001). The overall survival of STAT5B-mutated HES cases was only 30 months, suggesting that these cases should be reclassified as chronic eosinophilic leukemia, not otherwise specified (CEL-NOS). The finding of STAT5B N642H as a recurrent mutation in myeloid neoplasia with eosinophilia provides a new diagnostic and prognostic marker as well as a potential target for therapy.

As part of the UK NCRI AML17 trial, adult patients with acute myeloid leukemia in remission could be randomized to receive the mammalian target of rapamycin inhibitor everolimus, sequentially with post-induction chemotherapy. Three hundred and thirty-nine patients were randomised (2:1) to receive everolimus or not for a maximum of 84 days between chemotherapy courses. The primary endpoint was relapse-free survival. At 5 years there was no difference in relapse-free survival [29% versus 40%; odds ratio 1.19 (0.9-1.59) P =0.2], cumulative incidence of relapse [60% versus 54%: odds ratio 1.12 (0.82-1.52): P =0.5] or overall survival [45% versus 58%: odds ratio 1.3 (0.94-1.81): P =0.11]. The independent Data Monitoring Committee advised study termination after randomization of 339 of the intended 600 patients because of excess mortality in the everolimus arm without any evidence of beneficial disease control. The delivery of the everolimus dose was variable, but there was no evidence of clinical benefit in patients with adequate dose delivery compared with no treatment. This study suggests that the addition of mammalian target of rapamycin inhibition to chemotherapy provides no benefit., (Copyright © 2018 Ferrata Storti Foundation.)

Aim: The main objective of this study is to elucidate the clinical significance of the SLC2A9/GLUT9 rs11722228 polymorphism among male gout patients., Method: We consecutively recruited all newly diagnosed male gout patients who were treatment-naive from the rheumatology outpatient clinics of two Malaysian hospitals. Age-matched healthy male adults were employed as controls. All subjects were tested for the SLC2A9/GLUT9 rs11722228 genotypes, serum uric acid (SUA), urine uric acid and creatinine levels. All gout subjects were examined for the presence of tophi and sonographically screened for renal calculi., Results: A total of 73 male gout patients and 73 age-matched healthy male adults were recruited in this study. The genotypic frequencies of SLC2A9/GLUT9 rs1172228 did not differ significantly between the gout cases and the healthy controls. The gout subjects with the CC genotype had significantly higher SUA levels (P = 0.002), family history of gout (P < 0.050) and the occurrence of renal calculi (P = 0.026). The SUA-adjusted odds ratios (OR) of the occurrence of renal calculi in the CC genotype (OR = 1 [reference]) was significantly higher than the CT genotype (OR = 0.338, 95%CI: 0.141-0.813) and the TT genotype (OR = 0.271, 95%CI: 0.086-0.854)., Conclusions: The genotypic distribution of SLC2A9/GLUT9 rs1172228 in male gout patients did not differ significantly from that of healthy male controls. However, the CC genotype in gout had significant associations with higher levels of SUA, renal calculi and a positive family history of gout., (© 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.)

[This corrects the article DOI: 10.1371/journal.pone.0184802.].

Objective: The aim of this study was to investigate the correlations between serum cartilage oligomeric matrix protein (COMP), interleukin-16 (IL-16) and different grades of knee osteoarthritis (KOA) in Malaysian subjects., Methods: Ninety subjects were recruited comprising 30 with Kellgren-Lawrence (K-L) grade 2 KOA, 27 with K-L grade 3 KOA, 7 with grade 4 KOA, and 30 healthy controls. All subjects completed the Western Ontario and McMaster Universities Arthritis Index (WOMAC) questionnaire. Serum COMP and IL-16 levels were measured using ELISA and their values log transformed to ensure a normal distribution., Results: There was no significant differences in levels of log serum COMP and IL-16 between healthy controls and KOA patients. There were no significant differences in the log serum COMP and IL-16 levels within the different K-L grades in the KOA patients. In KOA patients, log serum IL-16 levels significantly correlated with the WOMAC score (p = 0.001) and its subscales, pain (p = 0.005), stiffness (p = 0.019) and physical function (p<0.0001). Serum IL-16 levels were significantly higher in Malaysian Indians compared to Malays and Chinese (p = 0.024)., Conclusions: In this multi-ethnic Malaysian population, there was no difference in serum COMP and IL-16 levels between healthy controls and patients with KOA, nor was there any difference in serum COMP or IL-16 levels across the various K-L grades of KOA. However, there were significant inter-racial differences in serum IL-16 levels.