Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.

Mitochondrial disorders are a heterogeneous group of often multisystemic and early fatal diseases caused by defects in the oxidative phosphorylation (OXPHOS) system. Given the complexity and intricacy of the OXPHOS system, it is not surprising that the underlying molecular defect remains unidentified in many patients with a mitochondrial disorder. Here, we report the clinical features and diagnostic workup leading to the elucidation of the genetic basis for a combined complex I and IV OXPHOS deficiency secondary to a mitochondrial translational defect in an infant who presented with rapidly progressive liver failure, encephalomyopathy, and severe refractory lactic acidemia.

MicroRNA (miRNA) expression profiling of peripheral blood samples in multiple myeloma patients using microarray.

MicroRNAs (miRNAs) are mostly located at cancer-associated genomic regions or in fragile sites, suggesting their important role in the pathogenesis of human cancers. Multiple myeloma (MM) is a cancer of plasma cells, the third most common cancer of the blood after lymphoma and leukaemia. There are several published reports on miRNAs in MM, however most used bone marrow rather than peripheral blood samples.

Mutations in mitochondrial NADH dehydrogenase subunit 1 (mtND1) gene in colorectal carcinoma.

Mitochondrial Subunit ND1 (mtND1) gene is involved in the first step of the electron transport chain of oxidative phosphorylation (OXPHOS). Alteration of the electron transport components by mutations in mtDNA may compromise the normal electron flow. This could lead to an increase of bifurcation and generation of superoxidase radicals and increase oxidative stress in various types of cancer cells.

Separation of sulfated urinary glycosaminoglycans by high-resolution electrophoresis for isotyping of mucopolysaccharidoses in Malaysia.

Mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the deficiency of specific lysosomal enzymes involved in glycosaminoglycans (GAGs) degradation. Currently, there are 11 enzyme deficiencies resulting in seven distinct MPS clinical syndromes and their subtypes. Different MPS syndromes cannot be clearly distinguished clinically due to overlapping signs and symptoms.

Can Primary Care Clinic Run MMT Service Well?

Methadone Maintenance Therapy (MMT) for opiate dependence was first started in Malaysia in 2005. The service was initially provided by psychiatric clinics in hospitals and primary care clinics. Handling patients with opiate dependency especially in a primary care clinic is very challenging due to various constraints hence the success is doubtful.

Training program in the field of addiction medicine - an experience of learning while abroad.

This paper illustrates the training program in the field of Addiction Medicine designed for primary care doctors by the Department of General Practice, School of Primary Care at Monash University in Melbourne. The nine month program was based around coursework, field visits and clinical observations. There were five modules that were completed and passed, twenty six Continuous Medical Education sessions attended, twenty nine field visits on Drug & Alcohol services, forty seven clinical visits and a total of three hundred and sixty clinical observations made.

Modifying antibiotic prescribing: the effectiveness of academic detailing plus information leaflet in a Malaysian primary care setting.

We assessed the effectiveness of an educational intervention in reducing antibiotic prescribing in public primary care clinics in Malaysia. Twenty-nine medical officers in nine clinics received an educational intervention consisting of academic detailing from the resident Family Medicine Specialist, as well as an information leaflet. The antibiotic prescribing rates were assessed for six months - three months before and three months after the intervention.