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.

Anesthesia, General ; Coronavirus Infections ; prevention & control ; transmission ; Humans ; Infectious Disease Transmission, Patient-to-Professional ; prevention & control ; Occupational Exposure ; prevention & control ; Operating Rooms ; Otorhinolaryngologic Surgical Procedures ; Pandemics ; prevention & control ; Personal Protective Equipment ; classification ; Pneumonia, Viral ; prevention & control ; transmission ; Practice Guidelines as Topic

The aim of this study was to assess the viability of coating collagen to Hydroxyapatite (HA) coated commercially pure Titanium (cpTi) samples. Five samples of cpTi were immersed in a simulated body fluid (Tas-SBF) after stages of gritting, sandblasting and acid etching. One sample was taken out after 3, 5 and 7 days of immersion in Tas-SBF respectively. The 7 days Tas-SBF coated sample was coated with collagen by physical adsorption method. Analysis was performed to study the surface roughness, morphology and elemental analysis of the coated surfaces.The equipment used wereAlicona, Scanning Electron Microscope (SEM), Energy-dispersive X-ray Spectroscopy (EDS) and Fourier Transform Infrared Spectroscopy (FTIR). Process of sand blasting and acid etching were able to produce desired morphology and surface roughness. The average surface roughness, Sa of sand blasted cpTi surface and acid etched cpTi were 2.17 ± 0.75 μm and 2.12 ± 0.15μm respectively. Immersion in Tas-SBF produced a crystalline coating and morphology that were similar to bone-like apatite. Roughness value of cpTi after being immersed in SBF for 7 days was 2.23 ± 0.31 μm and the Ca/P ratio was 7.076. Collagen coated samples had the highest Sa value which was 3.91 ± 0.31 μm and the Ca/P ratio was 1.190. This study showed that it is possible to achieve apatite and collagen coating on a modified cpTi surface using physical adsorption method.

Adult ; Age Factors ; Burnout, Professional ; epidemiology ; Female ; Health Status ; Humans ; Male ; Marital Status ; Mental Health ; Occupational Health ; Orthopedic Surgeons ; statistics & numerical data ; Pain ; epidemiology ; Personnel Staffing and Scheduling ; Sex Factors ; Singapore ; epidemiology ; Social Behavior ; Stress, Psychological ; epidemiology ; Surveys and Questionnaires ; Work Schedule Tolerance

Tendon is a dense connective tissue that connects muscle to bone. Tendon can adapt to mechanical forces passing across it, through a reciprocal relationship between its cellular components (tenocytes and tenoblasts) and the extracellular matrix (ECM). In early development, the formation of scleraxis-expressing tendon progenitor population in the sclerotome is induced by a fibroblast growth factor signal secreted by the myotome. Tendon injury has been defined as a loss of cells or ECM caused by trauma. It represents a failure of cells and matrix adaptation to mechanical loading. Injury initiates attempts of tendon to repair itself, which has been defined as replacement of damaged or lost cells and ECM by new cells or new matrices. Tendon healing generally consists of four different phases: the inflammatory, proliferation, differentiation and remodelling phases. Clinically, tendons are repaired with a variety of surgical techniques, which show various degrees of success. In order to improve the conventional tendon repair methods, current tendon tissue engineering aims to investigate a repair method which can restore tissue defects with living cells, or cell based therapy. Advances in tissue engineering techniques would potentially yield to a cell-based product that could regenerate functional tendon tissue.
Tissue Engineering

Apart from clinical, histological and biochemical indices, genomics are now being employed to unravel the pathogenetic mechanisms in the disease progression of IgA nephritis (IgAN). The results of angiotensin converting enzyme (ACE) gene polymorphism have been controversial. Those patients with the DD genotype seem to have a poorer prognosis. However, with high dose angiotensin receptor blocker (ARB) therapy, the ACE gene polymorphism status of a patient may no longer be a matter for concern as those with the DD genotype would also respond favourably to high dose ARB therapy. Association studies with gene sequencing and haplotypes have suggested that multiple genes are involved in the pathogenesis of IgAN. Some workers have reported a synergistic effect in the combined analysis of AGT-M235T and ACE I/D polymorphism. With the use of deoxyribo nucleic acid (DNA) microarray, tens of thousands of gene expressions genome-wide can be examined together simultaneously. A locus of familial IgAN has been described with strong evidence of linkage to IgAN1 on chromosome 6q22-23. Two other loci were reported at 4q26-31 and 17q12-22. DNA microarray techniques could also help in the identification of specific pathogenic genes that are up- or down-regulated and this may allow genome wide analyses of these genes and their role in the pathogenesis and progression of IgAN. Recently, using genome-wide association studies (GWAS) more loci for disease susceptibility for IgAN have been identified at 17p13, 8p23, 22q12, 1q32 and 6p21.
Angiotensin Receptor Antagonists ; administration & dosage ; Disease Progression ; Dose-Response Relationship, Drug ; Genomics ; methods ; Glomerulonephritis, IGA ; drug therapy ; genetics ; pathology ; Haplotypes ; Humans ; Molecular Sequence Data ; Polymorphism, Single Nucleotide

INTRODUCTIONThis paper presents the results of a community survey on urinary abnormalities which covered 1/80th of the population of Singapore in 1975. These findings were compared with the data from the Singapore National Service Registrants in 1974 as well as data from a recent survey in Singapore and that of other Asian and Western countries.

MATERIALS AND METHODSThe study covered 18,000 persons aged 15 years and above, representing a sampling fraction of 1/80th of the population. A total of 16,808 respondents attended the field examination centres, of whom 16,497 had their urine sample tested representing 92.7% of the sample population.

RESULTSIn the dipstick urine testing at the field examination centres, 769 subjects (4.6%) were found to have urinary abnormalities. Two hundred and eighty-two (36.7%) of these 769 subjects were found to have urinary abnormalities based on urine microscopy constituting a prevalence of 1.71%. The prevalence of proteinuria was 0.63% and for both haematuria and proteinuria was 0.73%. The prevalence for hypertension was 0.43% and renal insufficiency was 0.1%.

DISCUSSIONThe consensus is that routine screening for chronic kidney disease (CKD) in the general population is not cost effective as the yield is too low. Whilst, most studies showed that screening of the general population was not cost effective, it has been suggested that screening for targeted groups of subjects could help to identify certain risk groups who may benefit from early intervention to prevent or retard the progression of CKD.

CONCLUSIONThe prevalence of urinary abnormalities in Singapore has remained the same, now and three decades ago.

Adult ; Aged ; Aged, 80 and over ; Female ; Hematuria ; epidemiology ; pathology ; Humans ; Male ; Middle Aged ; Prevalence ; Proteinuria ; epidemiology ; pathology ; Renal Insufficiency, Chronic ; epidemiology ; pathology ; Risk Assessment ; Singapore ; epidemiology ; Urinalysis ; Urinary Tract Infections ; epidemiology ; Young Adult

Changing our patients’ health behaviour has always been difficult. To enhance their intrinsic motivation to change, we need to explore and resolve their ambivalence through motivational interviewing (MI). The four broad principles in MI are expressing empathy, developing discrepancy, rolling with resistance and supporting self-efficacy. Key skills in the practice of MI include using open ended questions, reflective listening and pulling change. While full blown MI may not be practical in our primary care setting, understanding the concept and principles of MI can help us be more patient-centred and collaborative which will help build motivation for change. Though time is a limiting factor for using MI in medical and public health settings, brief strategies like the Elicit-Provide-Elicit model can be used to give patients feedback and information about their health.

Introduction: Compliance with medical nutrition therapy is important to improve patient outcomes. The purpose of this study was to determine dietary compliance and its association with glycemic control among outpatients with poorly controlled type 2 diabetes mellitus (T2DM) in Hospital Universiti Sains Malaysia (HUSM). Methods: In this cross-sectional study, patients who had a glycosylated hemoglobin (HbA1c) level of at least 6.5%, after attending a diet counseling session at the Outpatient Dietetic Clinic, HUSM, were enrolled. Out of 150 diabetic patients reviewed between 2006 and 2008, 61 adults (32 men and 29 women) agreed to participate in this study. A questionnaire-based interview was used to collect socio-demographic, clinical and diabetes self-care data. The patient’s dietary compliance rate was determined by the Summary of Diabetes Self-Care Activities (SDSCA) measure. Anthropometric and biological measurements were also taken. Results: Only 16.4% of the respondents adhered to the dietary regimen provided by dietitians. Among the 7 dietary self-care behaviours, item number 6 (eat lots of food high in dietary fibre such as vegetable or oats) had the highest compliant rate (54.1%); whereas item number 3 (eat five or more servings of fruits and vegetables per day) had the lowest compliant rate (23.0%). There was a significant association between gender (p=0.037) and fasting blood sugar (FBS) (p=0.007) with the compliance status. Conclusion: Dietary non-compliance is still common among T2DM patients. Dietitians need to improve their skills and use more effective intervention approaches in providing dietary counseling to patients.