The importance of using a right test method in diagnosing leptospirosis.

Leptospirosis is a common febrile illness in Malaysia. The disease is caused by pathogenic bacteria called leptospires that are transmitted directly or indirectly from animals to humans via contaminated water or soil. It is a potentially serious but treatable disease.

A novel E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.

Purpose: To identify the mutation causing an autosomal dominant congenital nuclear cataract in a south Indian family by whole exome sequencing and to characterize further phenotypically the same in a zebra fish model.

Methods: A six-generation family (DKEC1) with several affected members registered at the Regional Institute of Ophthalmology (RIO), Chennai was documented to have congenital nuclear cataract. Detailed clinical history and blood samples were collected from all available family members.

First report of Rh individuals in the Indian population and characterization of the underlying molecular mechanisms.

Background: Rh phenotype is an extremely rare condition characterized by no expression of Rh antigens at the surface of red blood cells. Although rare, genetic bases of this phenotype are well known and include mutations within either the RH (RHD and RHCE) genes or the RHAG gene. So far Rh has been reported in individuals of Caucasian, African, and Asian origin.

Antigen negative red blood cell inventory of Indian blood donors.

Background: Screening the donor population for clinically important antigens and creating a database of phenotyped donors will eliminate the tedious task of large scale screening for antigen negative units. The aim of the present study is to identify donors lacking common antigens and a combination of common antigens to establish an antigen negative inventory.

Materials And Methods: Blood samples of 1221 regular blood donors were phenotyped for the clinically important common antigens of the Rh, Duffy, Kell, Kidd and MNS blood group systems using standard tube technique.

Partial matching of blood group antigens to reduce alloimmunization in Western India.

Red blood cell alloimmunization occurs due to the genetic disparity of red cell antigens between donor and recipient. In the present study, we report a spectrum of red cell alloantibodies characterized in patients with different clinical conditions in a reference center in India. Majority of the antibodies identified were against the blood group antigens c, D, E, M, N, S, s and Jka.