RESUMEN
@#Familial hypercholesterolemia (FH) is an autosomal dominant inherited genetic disease characterized by increased concentrations of low-density lipoprotein (LDL-C) cholesterol in the blood. The risk of premature coronary heart disease in FH patients may increase without early treatment. Advancement in molecular biology techniques has enable early detection and diagnosis of FH. These techniques are cost-effective and have a shorter turnaround time. The current diagnostic tools available for FH diagnosis involving algorithm-based scoring criteria and various molecular diagnosis methods including next-generation sequencing (NGS), Sanger sequencing, Multiplex ligation-dependent probe amplification (MLPA) and DNA hybridisation assay are discussed in this review. However, molecular genetic testing is not widely available due to time-consuming procedures, high cost and requires trained personnel. Thus, this 36 review highlights the use of point of care (POC) testing as an approach to diagnose FH, particularly in countries lacking infrastructure and expertise in this field. Lateral flow testing (LFA) has gained attention as a POC diagnostic tool due to its simplicity, low cost and involved simple procedure and settings. The advantages of LFA made this technique a potential tool in addressing challenges in diagnosing FH, particularly for early diagnosis of family members.
RESUMEN
@# Avian influenza (AI), caused by the avian strain of influenza A virus (AIV) is one of the significant health concerns globally. Human infections with AI viruses were reported sporadically and often exhibited high mortality and morbidity rate. AI outbreaks also influenced the safety of the food supply and caused significant economic losses. Immediate control measures are required during AI outbreaks in poultry to prevent further viruses spreading. Hence, accurate, sensitive, and rapid detection methods are pivotal for decision making. Traditional methods of detection, such as virus isolation in embryonated chicken eggs, immuno-based methods, and nucleic acid amplification method, pose different limitations. These always grab the attention of researchers to improve existing methods or invent novel diagnostic approaches to compensate for the shortcoming of current methods applied. However, the method of choice is highly dependent on the availability of facilities and resources. Among the detection methods, reverse transcription-polymerase chain reaction (RT-PCR) is the most favourable method used for detecting AIV. However, a constant review of the virus genome is crucial to maintain the assay’s sensitivity. More comprehensive research and evaluation study are needed for new diagnostic approaches.