Bioplastics on marine sandy shores: Effects on the key species Talitrus saltator (Montagu, 1808)

Talitrid amphipods are an important component of detritus web, playing a key role in the fragmentation of organic matters of marine and terrestrial origin, and it is well known that sandhoppers ingest microplastics. To assess the ef-fective consumption of bioplastics and their effects on survival rate and on pollutants transfer (i.e. phthalates) on supralittoral arthropods, laboratory experiments were conducted by feeding adult T. saltator with two different types of bioplastic commonly used in the production of shopping bags. Groups of about 20 individuals were fed with 10 x 10 cm sample sheets of the two types of bioplastic for four weeks. The results show that amphipods ingest bioplastics even in the absence of microbial film and that ingestion of bioplastic can have effects on talitrid amphipods. Microtomographic analyses of faecal pellets seem consistent with this finding. The high phthalate concentrations in freshly collected individuals suggest the presence in the environment of these compounds, and the ability of amphi-pods to assimilate them, while the decrease in phthalate concentrations in bioplastic-fed individuals could be attrib-uted to the scavenging effect of virgin plastic, as already observed in a previous study. In summary, the results indicate that different bioplastics may have effects on T. saltator (i.e. survival rate and faecal pellets structure) and con-firm a potential role of amphipods in the degradation of bioplastics in supralittoral zone of marine sandy beaches, even when bioplastics are not colonized by bacterial biofilm that seems to improve palatability

Private inherited microdeletion/microduplications: implications in clinical practice.

The introduction of array-CGH analysis is allowing the identification of novel genomic disorders. However, this new high-resolution technique is also opening novel diagnostic challenges when inherited private CNVs of unclear clinical significance are found. Oligo array-CGH analysis of 84 patients with mild to severe mental retardation associated with multiple congenital anomalies revealed 10 private CNVs inherited from a healthy parent. Three were deletions (7q31, 14q21.1, Xq25) and seven duplications (12p11.22, 12q21.31, 13q31.1, 17q12, Xp22.31, Xq28) ranging between 0.1 and 3.8Mb. Six rearrangements were not polymorphic. Four overlapped polymorphic regions to the extent of 10-61%. In one case the size was different between the proband and the healthy relative. Three small rearrangements were gene deserts. The remaining seven had a mean gene content of five (ranging from 1 to 18). None of the rearranged genes is known to be imprinted. Three disease-genes were found in three different cases: KAL1 in dupXp22.31, STS in another dupXp22.31 and TCF2 in dup17q12. The patient carrying the last duplication presents sex reversal, Peters' anomaly and renal cysts and the duplication is located 4Mb away from the HSD17B1 gene, coding a key enzyme of testosterone biosynthesis. Considering the overlap with polymorphic regions, size-identity within the family, gene content, kind of rearrangement and size of rearrangement we suggest that at least in five cases the relationship to the phenotype has not to be excluded. We recommend to maintain caution when asserting that chromosomal abnormalities inherited from a healthy parent are benign. A more complex mechanism may in fact be involved, such as a concurrent variation in the other allele or in another chromosome that influences the phenotype

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al. (1998); J Med Genet 35:617-623], approximately 179 patients with ZEB2 mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21-q23 microdeletions (or different chromosome rearrangements) in few patients, and ZEB2 mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition