Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India.

Familial Hypercholesterolemia (FH) is an autosomal, dominant, inherited disorder characterized by severely elevated LDL-cholesterol (LDL-C) levels with high risk for Coronary Artery Disease (CAD). There are limited genetic studies especially on genes other than Low Density Lipoprotein receptor (LDLR) conducted in Indian population. Thus, our aim was to screen the entire Proprotein Convertase Subtilisin/Kexin type 9 gene (PCSK9) gene & hotspot exons 3, 4 and 9 of LDLR gene in FH cases and controls.

Reference range evaluation of complete blood count parameters with emphasis on newer research parameters on the complete blood count analyzer Sysmex XE-2100.

Since the advent of automation in the field of hematological cell counters there has been a constant refinement of the technology and increase in the number of newer parameters available on CBC analysers. Many novel parameters are being put into routine clinical use and both clinical evaluation and monitoring critically depend on knowledge of laboratory reference ranges. Here, we present reference interval for the Sysmex XE-2100, with emphasis on the novel or newer research parameters.

Whipple's disease.

A 74 year old male patient with weight loss, diarrohea, loss of appetite, anemia, thrombocytopenia and culture negative endocarditis was diagnosed to have Whipple's disease. We are reporting this case, as it is a rare disease with fewer than 1000 validated cases reported in literature.