NAFLD progression in morbid obesity is associated with increase in hepatic adiponectin receptor and oxidative stress-related genes. The linear correlations suggest that ADIPOR1, ADIPOR2 and GPx1 share key molecular factors in the regulation of the genetic expressions.

Split hand-split food malformation (SHFM) is a congenital defect of limb development that involves the central rays of the autopod and presents with median clefts of the hands and feet. It often includes syndactyly and aplasia/hypoplasia of the phalanges. SHFM is a genetic condition with high genetic heterogeneity, with at least 6 associated chromosomal loci. A locus in chromosomal region 7q21.3, associated with SHFM is referred to as SHFM1. Genes considered to be associated with SHFM1 are DLX5 and DLX6. These two genes participate in the Wnt pathway that has a role in limb development. The gene DYNC1I1, located proximally (centromeric) to the SHFM1 locus was recently reported to include enhancer sequences involved in limb development in its exons 15 and 17. These sequences were shown to cis-regulate the function of the adjacent SHFM associated genes. We report a family, in which the father and three of his sons carry an approximately 1 Mb deletion in this chromosomal region, arr[hg19]7q21.3(94,769,383-95,801,045)x1. The deleted region is located proximally (centromerically) adjacent to the SHFM region at 7q21.3. It does not include the SHFM candidate genes DLX5 and DLX6, but includes the enhancer sequences within DYNC111 and six other genes centromeric to DYNC1I1. All deletion carriers have various degrees of intellectual disability while two of them have SHFM. This family is the eighth reported family where a chromosome 7q21.3 deletion co-segregating with SHFM involves the enhancer regions within gene DYNC111, but does not involve the genes DLX5 and DLX 6. This is also the third family where decreased penetrance of enhancer-associated SHFM is demonstrated. Intellectual disability was not observed in the previously reported families and may be associated with deficiency of one or more of the 6 genes included in the reported deletion centromeric to DYNC1I1.

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Resumen Introducción: El linfangioma quístico es una malformación benigna y normalmente congénita de los vasos linfáticos. Presentamos el caso de linfangioma quístico raro tanto por su localización inguinal (menos del 2% de todos los linfangiomas) como por su debut tardío en el adulto (el 50% son congénitos y hasta un 90% se diagnostican antes de los dos años). Caso clínico: Se trata de una mujer de 50 años que tiene una masa de consistencia blanda y móvil en región inguinal derecha no reducible y que tampoco protruye con maniobras de Valsalva. Se solicita ecografía abdominal en la que se observa una formación ovalada de naturaleza quística. Se realiza exéresis de la misma confirmando el diagnóstico anatomopatológico de linfangioma quístico. Discusión: El linfangioma suele producir síntomas por compresión de estructuras vecinas o por complicación del mismo. El gold estándar para el diagnóstico es la ecografía, aunque el diagnóstico definitivo es anatomopatológico. Se aconseja la escisión completa del mismo por el riesgo de recidiva.