Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3 Mutation.

Rosai-Dorfman disease (RDD) typically presents as bulky lymphadenopathy. Somatic mutations in RAS/MAP kinase pathway genes are common but germline mutations are rare. A patient with RDD and exocrine pancreatic insufficiency was found to have a homozygous germline mutation in SLC29A3, which has been associated with the Histiocytosis/Lymphadenopathy Plus Syndrome. His RDD also was positive for a somatic mutation in lymphoid enhancer binding factor 1 (LEF1). The concurrence of RDD and pancreatic insufficiency should raise consideration of SLC29A3 mutations. Other cases will be needed to confirm this observation and a possible contribution of LEF1 to the development of RDD.

Non-Hodgkin's Lymphoma in Buccal Vestibule -Case Report.

Lymphomas are malignant neoplasms arising from lymphocytes B cell or T cell that affects mainly lymph nodes, spleen and other non hematopoietic tissues. They are classified as Hodgkin's lymphoma (HL) and non-Hodgkin's lymphoma (NHL). Diffuse large B-cell lymphoma (DLBL) is the most common variant of non-Hodgkin's lymphomas and frequently involves extranodal sites. In the oral soft tissues lesions can occur as hard and diffuse tumors involving oral vestibule, gums and posterior region of the hard palate. Most lymphomas, including DLBL arise from B cells are characterized by diffuse population of large cells with cleaved or non cleaved oval nuclei. Both histopathlogical and immunohistochemical (IHC) analysis were strongly advisable for proper management and prognosis. We hereby report a rare case of Diffuse large B-cell variant of non-Hodgkin's lymphoma in a male patient of age 50yrs in left upper buccal vestibule.

Amino acid profile of saliva from patients with oral squamous cell carcinoma using high performance liquid chromatography.

Oral cancer is the leading cause of death worldwide and it is the eighth most common cause of cancer death. Cancer cells utilize more glucose and amino acids than their benign counterparts. Diagnosis of disease via the analysis of saliva is potentially valuable, as the collection of fluid is associated with fewer compliance problems than the collection of blood. Hence, the present study was undertaken to evaluate the comprehensive amino acid profiling of saliva by high performance liquid chromatography (HPLC). The study group comprised 16 subjects, of whom eight were classified as having well-differentiated oral squamous (OSCC) cell carcinoma (Group I) and eight were classified as having moderately differentiated oral squamous cell carcinoma (Group II). Eight healthy individuals comprised the control group (Group III). The results showed increased salivary levels of all the amino acids in both groups of OSCC patients (Groups I and II) when compared with healthy controls (Group III). Hence, our study showed higher levels of all amino acids in the saliva of OSCC patients than in the saliva of healthy controls. The increased levels may serve as a "diagnostic and prognostic marker" for oral squamous cell carcinoma and for further detection of metastatic spread.

MET-IDEA: data extraction tool for mass spectrometry-based metabolomics.

A current and significant limitation to metabolomics is the large-scale, high-throughput conversion of raw chromatographically coupled mass spectrometry datasets into organized data matrices necessary for further statistical processing and data visualization. This article describes a new data extraction tool, MET-IDEA (Metabolomics Ion-based Data Extraction Algorithm) which surmounts this void. MET-IDEA is compatible with a diversity of chromatographically coupled mass spectrometry systems, generates an output similar to traditional quantification methods, utilizes the sensitivity and selectivity associated with selected ion quantification, and greatly reduces the time and effort necessary to obtain large-scale organized datasets by several orders of magnitude. The functionality of MET-IDEA is illustrated using metabolomics data obtained for elicited cell culture exudates from the model legume, Medicago truncatula. The results indicate that MET-IDEA is capable of rapidly extracting semiquantitative data from raw data files, which allows for more rapid biological insight. MET-IDEA is freely available to academic users upon request.