A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.

Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.

Fine needle aspiration cytology in pediatric age group with special reference to pediatric tumors: a retrospective study evaluating its diagnostic role and efficacy.

BACKGROUND: Fine needle aspiration cytology (FNAC) is a well-established diagnostic technique in adult mass lesions but a comparatively new technique to pediatric lesions. AIM: The current study aims to evaluate the role of FNAC in pediatric age with special reference to pediatric tumors. SUBJECTS AND METHODS: A retrospective study of FNAC in children ≤ 18 years of age presenting with mass lesions was studied for 5 years. Distribution of cases in different age groups, sex, and site of lesion was analyzed. Pediatric lesions were categorized into non-neoplastic, benign, and malignant conditions. Diagnostic efficacy was assessed by comparing subsequent histopathological examination wherever possible. STATISTICAL ANALYSIS: Epi info 07 (Centers for Disease Control and Prevention in Atlanta, Georgia (USA) 07) and values were presented as simple percentages. RESULTS: FNAC was performed on 2903 cases in 5 years out of which 327 cases 11.3% (327/2903) were ≤ 18 years of age. Out of 327 cases, 180 cases 55% (180/327) were between 11 and 18 years. Male to female ratio was 1.15:1. The commonest site for FNAC was cervical lymph node swelling 48.3% (158/327). Reactive lymphadenitis was the commonest diagnosis among all mass lesions 38.8% (103/265), whereas Fibroadenoma 20.8% (10/49) was commonest diagnosis among benign lesions and among malignant lesions there were two cases 15.3% (2/13) each of Hodgkins and non-Hodgkins lymphoma and one case of chondrosarcoma. The positive predictive value of diagnosing malignant lesions on FNAC was 100%. CONCLUSIONS: The ease of FNAC along with its high diagnostic accuracy makes it a desirable method for diagnosing lesions in children.