Detection of Metabolites by Proton Ex Vivo NMR, in Vivo MR Spectroscopy Peaks and Tissue Content Analysis: Biochemical-Magnetic Resonance Correlation: Preliminary Results

*Aim*: Metabolite concentrations by in vivo magnetic resonance spectroscopy and ex vivo NMR spectroscopy were compared with excised normal human tissue relaxation times and tissue homogenate contents.

*Hypothesis*: Biochemical analysis combined with NMR and MR spectroscopy defines better tissue analysis.

*Materials and Methods*: Metabolites were measured using peak area, amplitude and molecular weights of metabolites in the reference solutions. In normal brain and heart autopsy, muscle and liver biopsy tissue ex vivo NMR peaks and spin-lattice (T1) and spin-spin (T2) relaxation times, were compared with diseased tissue NMR data in meningioma brain, myocardial infarct heart, duchene-muscular-dystrophy muscle and diffused-liver-injury liver after respective in vivo proton MR spectroscopy was done. NMR data was compared with tissue homogenate contents and serum levels of biochemical parameters.

*Results*: The quantitation of smaller NMR visible metabolites was feasible for both ex vivo NMR and in vivo MR spectroscopy. Ex vivo H-1 NMR and in vivo MRS metabolite characteristic peaks (disease/normal data represented as fold change), T1 and T2, and metabolites in tissue homogenate and serum indicated muscle fibrosis in DMD, cardiac energy depletion in MI heart, neuronal dysfunction in meningioma brain and carbohydrate-lipid metabolic crisis in DLI liver tissues.

*Conclusion*: This preliminary report highlights the biochemical-magnetic resonance correlation as basis of magnetic resonance spectroscopic imaging data interpretation of disease

All males do not have 46 xy karyotype: A rare case report

The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX). A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH) showed sex determining region of Y chromosome (SRY) gene locus on X chromosome

Pigmentation in vitamin B12 deficiency masquerading Addison′s pigmentation: A rare presentation

A 35-year-female presented with generalized weakness, weight loss, and progressive pigmentation was worked up for suspicion of Addisons disease. On examination hyper pigmentation was noted on both palmar and dorsal aspect of hands involving knuckles, creases, feet, tongue, oral mucosa and gluteal region. There was no evidence of hypocortisolemia as initially suspected, and literature search revealed a possibility of vitamin B12 deficiency. She had megaloblastic anemia with a low serum vitamin B12, mostly due to poor dietary intake. Her hyper pigmentation resolved with vitamin B12 supplementation. Skin biopsy showed increased pigmentation at stratum spinosum and basal-layer. The mechanism of hyper pigmentation in vitamin B12 deficiency was due to an increase in melanin synthesis