[Branchio-oculo-facial syndrome]. / Syndrome branchio-oculo-facial.

BACKGROUND: Branchio-Oculo-Facial Syndrome (BOFS, MIM#113620) is a rare, polymalformational disorder with cutaneous and ocular abnormalities and characteristic facial anomalies. It is an autosomal dominant developmental disorder caused by mutations or deletions in the transcription factor AP-2 alpha gene (TFAP2A, 6p24). We report a new case of atypical BOFS with a unilateral cervical cutaneous defect. PATIENT AND METHODS: A 5-year-old girl was admitted to our dermatology department for a congenital, linear, erythematous cutaneous anomaly on the right side of her neck. There was no family history. She also presented characteristic facial and ocular anomalies. BOFS was suspected. TFAP2A molecular analysis revealed a heterozygous missense mutation c.767C>T (p.Ala256Val). DISCUSSION: BOFS is variable and remains unknown to dermatologists in spite of distinctive cutaneous features. Identification of this syndrome is important to improving medical care (multidisciplinary care, further tests, genetic counselling). We report a case of atypical BOFS with a unilateral cervical cutaneous defect in one patient and bilateral cutaneous anomalies in the other four patients. In agreement with the literature, there did not appear to be mutation-specific genotype-phenotype correlations.

Downward fluxes of particulate carbon, nitrogen and phosphorus in the north-western Adriatic sea.

Downward fluxes of particles, organic carbon, total nitrogen and total phosphorus and the composition of the settled particulate matter were determined in the north-western Adriatic Sea at two coastal sites influenced by the outflows of the Po and Adige rivers and one offshore site. Vertical fluxes were strongly influenced by resuspension processes in addition to the primary flux and advection. The resuspended material contributed on average 34-43% of the total matter sedimented in the near bottom traps in coastal waters. Net annual vertical fluxes (due to primary flux and advection) of organic carbon, total nitrogen and phosphorus in the coastal stations were: 71-97 g C m(-2) year(-1), 8-14 g N m(-2) year(-1) and 2.1-2.3 g P m(-2) year(-1), with the highest values recorded at the station off the Po river delta. The offshore site was characterised by net annual fluxes of particulates, C, N and P approximately one order of magnitude lower than the above. The carbon export to the bottom was limited in the warm seasons when it constituted only 2-9% of primary production, due to high recycling and utilisation in the upper layer of the water column, increasing up to 8-18% in winter because of the instability of the water column and low biological utilisation.

Critical Aspects of Sedimentary Phosphorus Chemical Fractionation.

Sequential leaching procedures have been widely used as an environmental tool to quantify sedimentary P reservoirs. Nevertheless, they still present important issues that need to be investigated such as readsorption of leached ions and organic P hydrolysis. Bottom sediments of a lagoonal environment were analyzed following some selected extraction procedures that are based on chelating agents at the same pH as the sediment (GB) or a mixture of reducing and acid extractants (AAC and SEDEX). Readsorption was estimated by washes with MgCl2 after each extraction, and turned out to be significant in the step of the SEDEX sequence that quantifies the authigenic Ca-bound P. Here, readsorbed P accounted for up to 46% of the fraction. In contrast, in the GB sequence readsorbed P accounted for only 1.7 to 4.3% of the Fe-bound P and Ca-bound P. The AAC and SEDEX sequences yielded relative organic P contents ranging from 24.5 to 30.5% of the total P, and the GB sequence yielded values of 41.3 to 50.7%. Despite the large difference between the two sequences, the relative proportions among the samples were consistent. The difference may result from the combination of hydrolysis sedimentary organic P by some extractants (mostly citrate dithionite bicarbonate [CDB] and HCl) in the AAC and SEDEX sequences, and of incomplete dissolution of Ca-bound phases by the relevant chelating agent (Na-EDTA [ethylene dinitrilo tetracetic acid]) in the GB sequence. In fact, when detrital apatite of magmatic origin was used as an analogue phase, only about 48% of it was leached during two Na-EDTA extractions. The undissolved detrital apatite was therefore wrongly attributed to the organic P reservoir and produced values of organic P overestimated by 2.9 to 8.8%. The organic P values obtained with the different sequences, although corrected for this effect, still showed differences of 5.4 to 13.9%, that were attributed to the hydrolysis of labile organic compounds. These results point out that the best sequence to use should be chosen taking into account the peculiarities of each sequence and the contents of detrital apatite and organic matter of the sediments under study.