Introduction: The aim of this study was to evaluate the association of AXIN2 gene variants rs 7591 and rs 7224837 with non-syndromic cleft lip and palate. Materials and Methods: Blood samples of 30 subjects with NSCLP and 30 unrelated controls were used for the study. The extracted DNA samples were subjected to Polymerase chain reaction in which amplification of the selected gene segments was done; later these amplified products were subjected to DNA sequencing. Results: This study suggests that the likelihood of Non-syndromic cleft lip and palate is higher in subjects having TT (p<0.001) & AT (p=0.03) genotype for AXIN2 gene variant rs7591 and AG (p=0.01) genotype for AXIN2 gene variant rs7224837.Conclusion: The result suggests that AXIN2 gene variant rs7591 and AXIN2 gene variant rs7224837 can be considered as genetic markers for Non syndromic cleft lip and palate in local population.

Background:Eschweilera nana Miers is a tree widely distributed in Cerrado, Brazil.Objective:In this study, we aimed to describe its phytochemical properties and antioxidant and topical anti-inflammatory effects for the first time, as well validate an high performance liquid chromatography with ultraviolet/visible (HPLC-UV-Vis) method for the separation and quantification of the main components (hyperoside and rutin) in the hydroalcoholic extract of E. nana leaves.Materials and Methods:Structural identification of compounds in E. nana extract was performed by analysis of spectral data by 1H nuclear magnetic resonance, 13C nuclear magnetic resonance and/or ESI/EM. The HPLC-UV-Vis method was validated according International Conference on Harmonization (ICH) parameters. The 2,2’-azino-bis(3-ethylbenzothiazoline-6-sulphonic acid) (ABTS) and 1,1-diphenyl-2-picrylhydrazyl (DPPH) method were used for determination of in vitro antioxidant activities and the croton oil-induced inflammation for evaluation of in vivo anti-inflammatory effects.Results:Hyperoside, rutin, α-amirin, β-amirin, β-sitosterol, and stigmasterol were identified in the hydroalcoholic extract of E. nana leaves. HPLC-UV-Vis was validated according to ICH parameters. Furthermore, in vitro and in vivo assays demonstrated that the hydroalcoholic extract and methanol fraction showed significant antioxidant and topical anti-inflammatory effects, as they were able to reduce ear edema induced by croton-oil application.Conclusions:This research showed the first phytochemical study of E. nana extract and their biological activities may be associated with the presence of flavonoids in the extracts.

Introducción. A pesar de los tratamientos precoces basados en la nutrición, muchos pacientes con galactosemia presentan una enfermedad neurodegenerativa que se manifiesta fundamentalmente a través de alteraciones del lenguaje y las discinesias. Las imágenes obtenidas mediante la resonancia magnética cerebral muestran unos cambios en la sustancia blanca cerebral con hipomielinización bilateral e hiperseñal periventricular simétrica en T2. Pacientes y métodos. Presentamos los datos clínicos y neurorradiológicos de siete niños de edades comprendidas entre los 3 y los 12 años con galactosemia clásica. El inicio había ocurrido típicamente durante la lactancia. Dos niños se desarrollaron de forma normal (10 y 12 años), cuatro presentaban un retraso del desarrollo (10, 7, 4 y 3 años) y uno presentaba una parálisis cerebral distónica (kernicterus). Resultados. La RM cerebral reveló la afectación típica de la sustancia blanca en cinco de los niños y alteraciones en los ganglios basales en el paciente con kernicterus. Tres pacientes son homocigóticos para la mutación Q188R y dos son heterocigóticos compuestos. Conclusión. Se ha hallado una correlación positiva entre el retraso en el desarrollo, la afectación de la sustancia blanca y la mutación Q188R.