Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann–Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.

Objective: Converging evidence suggests that intestinal inflammation is involved in the pathogenesis of neurodegenerative diseases. Previous studies on fecal calprotectin in Parkinson’s disease (PD) were limited by small sample sizes, and literature regarding intestinal inflammation in multiple system atrophy (MSA) is very scarce. We investigated the levels of fecal calprotectin, a marker of intestinal inflammation, in PD and MSA. Methods: We recruited 169 subjects (71 PD, 38 MSA, and 60 age-similar nonneurological controls). Clinico-demographic data were collected. PD and MSA were subtyped and the severity assessed using the MDS-UPDRS and UMSARS, respectively. Fecal calprotectin and blood immune markers were analyzed. Results: Compared to controls (median: 35.7 [IQR: 114.2] μg/g), fecal calprotectin was significantly elevated in PD (median: 95.6 [IQR: 162.1] μg/g, p = 0.003) and even higher in MSA (median: 129.5 [IQR: 373.8] μg/g, p = 0.002). A significant interaction effect with age was observed; between-group differences were significant only in older subjects (i.e., ≥ 61 years) and became more apparent with increasing age. A total of 28.9% of MSA and 18.3% of PD patients had highly abnormal fecal calprotectin levels (≥ 250 μg/g); however, this difference was only significant for MSA compared to controls. Fecal calprotectin correlated moderately with selected blood immune markers in PD, but not with clinical features of PD or MSA. Conclusions Elevated fecal calprotectin suggests a role for intestinal inflammation in PD and MSA. A more complete understanding of gut immune alterations could open up new avenues of research and treatment for these debilitating diseases.

Gout is a commonly treated inflammatory arthritis that is often managed in the primary care setting. This disease is prevalent among the multi-ethnic Malaysian population. Unfortunately, gout is still frequently managed sub-optimally, even in the hospital and primary care settings. Gout should be considered a major disease since it can potentially lead to multiple disabilities from joint destruction, nephropathy and increased cardiovascular morbidity and mortality. The objectives of this review are to summarise the latest updated information and management of gout in the primary care setting.

The Singapore Health Services cluster (SingHealth) radiology film archives are a valuable repository of local radiological cases dating back to the 1950s. Some of the cases in the archives are of historical medical interest, i.e. cerebral angiography in the workup of patients with hemiplegia. Other cases are of historical social interest, being conditions seen during earlier stages of Singapore's development, i.e. bound feet. The archives form a unique portal into the development of local radiology as well as the national development of Singapore. A selection from the archives is published in commemoration of the International Day of Radiology in 2020, as well as the 200th anniversary of the Singapore General Hospital in 2021. This pictorial essay comprises gastroenterology, musculoskeletal and obstetrics and gynaecology cases from the archives.

Introduction: A compulsory research component is becoming increasingly common for clinical residents. However, integrating research into a busy clinical training schedule can be challenging. This study aimed to explore barriers to research supervision in specialist training programmes from the perspectives of clinical supervisors and trainees at a Malaysian university hospital. Methods: Qualitative interviews and focus group discussions were conducted (December 2016 to July 2017) with clinical supervisors (n=11) and clinical trainees (n=26) utilising a topic guide exploring institutional guidelines, research culture and supervisor-student roles. Interviews were transcribed verbatim and analysed thematically to identify barriers to research supervision. Results: Supervisors and trainees from 11 out of 18 departments participated. Both clinical supervisors and trainees struggled to successfully integrate a compulsory research component into residency training. Among the reasons identified included a lack of supervisory access due to the nature of clinical rotations and placements, clashing training priorities (clinical vs research) that discouraged trainees and supervisors from engaging in research, poor research expertise and experience among clinical supervisors hampering high-quality supervision, and a frustrating lack of clear standards between the various parties involved in research guidance and examination. Conclusion: Both clinical supervisors and trainees struggled to successfully integrate a compulsory research component into residency training. This was not only an issue of resource limitation since questions regarding clinical priorities and unclear research standards emerged. Thus, institutional coordinators need to set clear standards and provide adequate training to make research meaningful and achievable for busy clinical supervisors and trainees.

The Singapore Health Services cluster (SingHealth) radiology film archives are a valuable repository of local radiological cases dating back to the 1950s. Some of the cases in the archives are of historical medical interest, i.e. cerebral angiography in the workup of patients with hemiplegia. Other cases are of historical social interest, being conditions seen during earlier stages of Singapore's development, i.e. bound feet. The archives form a unique portal into the development of local radiology as well as the national development of Singapore. A selection from the archives is published in 2020 in commemoration of the 20th anniversary of the formation of SingHealth, the 55th National Day of Singapore, and the 125th anniversary of the International Day of Radiology. This pictorial essay comprises cardiovascular, respiratory and neurological cases from the archives.

BACKGROUND: Tendon and ligament injuries accounted for 30% of all musculoskeletal consultations with 4 million new incidences worldwide each year and thus imposed a significant burden to the society and the economy. Damaged tendon and ligament can severely affect the normal body movement and might lead to many complications if not treated promptly and adequately. Current conventional treatment through surgical repair and tissue graft are ineffective with a high rate of recurrence.METHODS: In this review, we first discussed the anatomy, physiology and pathophysiology of tendon and ligament injuries and its current treatment. Secondly, we explored the current role of tendon and ligament tissue engineering, describing its recent advances. After that, we also described stem cell and cell secreted product approaches in tendon and ligament injuries. Lastly, we examined the role of the bioreactor and mechanical loading in in vitro maturation of engineered tendon and ligament.RESULTS: Tissue engineering offers various alternative ways of treatment from biological tissue constructs to stem cell therapy and cell secreted products. Bioreactor with mechanical stimulation is instrumental in preparing mature engineered tendon and ligament substitutes in vitro.CONCLUSIONS: Tissue engineering showed great promise in replacing the damaged tendon and ligament. However, more study is needed to develop ideal engineered tendon and ligament.
Bioreactors ; Exosomes ; In Vitro Techniques ; Incidence ; Ligaments ; Physiology ; Recurrence ; Referral and Consultation ; Stem Cells ; Tendons ; Tissue Engineering ; Transplants

Objectives: To evaluate study designs and citation counts of original research published in the Medical Journal of Malaysia (MJM). Methods: The bibliographic data of the MJM for the period 1980-2016 were retrieved from PubMed and analysed using Endnote bibliographic software. Study designs of original journal articles were analysed according to whether the articles were diagnostic study, prognostic study or clinical trial (collectively known as “evidence papers”). The citation counts of the original articles and case reports for the period 2012-2016 were compared in a sub-study using a case-control design. Results: A total of 3952 MJM journal items were retrieved from PubMed for the period 1980-2016; of these, 58.9% were original articles and 29.5% were case reports. Among the original articles, 14.6% were “evidence papers”; 2.3% were diagnostic studies, 7.7% were prognostic studies, 4.6% were clinical trials. In the study period 2012-2016, “other types of original articles” had statistically significantly more citations than case reports. However, there is no difference between “evidence papers” and case reports. Conclusion Our analysis shows the distribution of the types of articles appearing in the MJM for the period of study and serves as a reference for improving citations counts in the local context.
Bibliometrics