ABSTRACT
BACKGROUND: The objective of this study is to examine the hypothesis that cystic hygroma (CH) with normal karyotype can manifest as a Mendelian inherited trait, and that a genetic similitude with hereditary lymphedema exists. To reach this goal, we investigated the prevalence of genetic variants in angiogenesis and lymphangiogenesis genes in a cohort of euploid fetuses with CH that almost resolved before delivery. A short review of cases from literature is also reported. METHODS AND RESULTS: Five fetuses were screened using a next-generation sequencing approach by targeting 33 genes known to be associated with vascular and lymphatic malformations. The genetic evaluation revealed two novel variants in KDR and KRIT1 genes. CONCLUSION: A review of the literature to date revealed that an association exists between CH and hereditary lymphedema and, similar to lymphedema, CH can be inherited in autosomal recessive and autosomal dominant manner, with the latter most likely associated with a better prognosis. About KDR and KRIT1 genes, no other similar associations are reported in the literature and caution is needed in their interpretation. In conclusion, we thought that a genetic test for the outcome of familial CH could be of enormous prognostic value.
Subject(s)
Head and Neck Neoplasms/genetics , Inheritance Patterns , KRIT1 Protein/genetics , Lymphangioma, Cystic/genetics , Lymphedema/genetics , Vascular Endothelial Growth Factor Receptor-2/genetics , Female , Fetus , Gene Expression , Genetic Testing , Head and Neck Neoplasms/diagnostic imaging , Head and Neck Neoplasms/pathology , High-Throughput Nucleotide Sequencing , Humans , Karyotyping , Lymphangiogenesis/genetics , Lymphangioma, Cystic/diagnostic imaging , Lymphangioma, Cystic/pathology , Lymphedema/diagnostic imaging , Lymphedema/pathology , Male , Models, Genetic , Mutation , Neovascularization, Pathologic/diagnosis , Neovascularization, Pathologic/genetics , Neovascularization, Pathologic/pathology , Prognosis , UltrasonographyABSTRACT
Long gravity waves or swell dominating the sea surface is known to be very useful to estimate seabed morphology in coastal areas. The paper reviews the main phenomena related to swell waves propagation that allow seabed morphology to be sensed. The linear dispersion is analysed and an error budget model is developed to assess the achievable depth accuracy when Synthetic Aperture Radar (SAR) data are used. The relevant issues and potentials of swell-based bathymetry by SAR are identified and discussed. This technique is of particular interest for characteristic regions of the Mediterranean Sea, such as in gulfs and relatively close areas, where traditional SAR-based bathymetric techniques, relying on strong tidal currents, are of limited practical utility.