Identification of a rare [γ(γδβ)] -thalassemia using tandem mass spectrometry.

Thalassemias are a group of inherited monogenic disorders characterized by defects in the synthesis of one or more of the globin chain subunits of the hemoglobin tetramer. Delta-beta (δβ-) thalassemia has large deletions in the β globin gene cluster involving δ- and β-globin genes, leading to absent or reduced synthesis of both δ- and β-globin chains. Here, we used direct globin-chain analysis using tandem mass spectrometry for the diagnosis of δβ-thalassemia.

HER2 Expression in Gastric Adenocarcinoma-a Study in a Tertiary Care Centre in South India.

According to the literature available, HER2(human epidermal growth factor 2)status in gastric carcinoma has been studied worldwide, however there is a paucity of published data from India. Hence, this study was taken up to evaluate HER2 overexpression in gastric adenocarcinoma patients and to assess the relationship between its expression and clinicopathological tumor parameters. Prospective study was conducted in a teaching hospital over a period of 27 months.

Niemann-Pick disease type A presenting as unilateral tremors.

Niemann-Pick group of diseases are rare lysosomal storage disorders. The clinical phenotype is variable. We report a child who first time presented with tremors of tongue and tremors of one side of the body.