Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.

BACKGROUND: Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p-). The main clinical features include a high-pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal folds, hypotonia, delayed growth and development. METHODS: We studied 14 Brazilian patients with CdCS using genomic array in order to better define the 5p breakpoints and recognize copy number variations (CNVs) that contribute to clinical manifestations associated with the syndrome. RESULTS: Array confirmed terminal deletions in 13 patients and an interstitial deletion in one patient. It was also possible to map the breakpoints and associate a genomic region of 4.7 Mb to the development of head circumference and cat-like cry. We also found other CNVs concomitant to the 5p deletion including a 9p duplication, a 17q deletion, and a 22q deletion in three different patients. CONCLUSION: With advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype-phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat-like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype-phenotype correlation to perform a complete clinical and molecular diagnosis.

Metal biomonitoring in a Patagonian salt marsh.

Patagonian salt marshes are not affected by pollution, but historical mining wastes are a continuous source of metals to salt marsh in San Antonio Bay. The present study evaluated the concentration of metals in sediments and used the halophyte Spartina spp. and the crab N. granulata as biomonitors. The levels of metals in sediment and organisms in SAB remained at levels corresponding to a slight enrichment or contamination. The highest levels corresponded to innermost sites of the Encerrado channel and close to the mining wastes. Spartina is a phytostabilizer so its aboveground tissues do not reflect the concentrations in the sediment; although, it retains the metals in its belowground tissues and in the rhizosediment. N. granulata showed to be a useful biomonitor for Pb, but not for the other metals.

Hazardous metal pollution in a protected coastal area from Northern Patagonia (Argentina).

The San Antonio Bay is a protected natural coastal area of Argentina that has been exposed to mining wastes over the last three decades. Iron and trace metals of potential concern to biota and human health (Cd, Pb, Cu, and Zn) were investigated in the sediments from the bay and in the soils of the Pile (mining wastes). Concentrations of Cd (45 mg kg-1), Pb (42,853 mg kg-1), Cu (24,505 mg kg-1), and Zn (28,686 mg kg-1) in the soils Pile exceeded guidelines for agricultural, residential, and industrial land uses. Risk assessment due to exposure to contaminated soils (Pile) was performed. Hazard quotients were superior to non-risk (HQ >1) for all trace metals, while accumulative hazard quotient index indicated a high risk for children (HI = 93) and moderate for adults (HI = 9). In the bay, sediments closest to the Pile (mudflat and salt marsh) exceeded sediment quality guidelines for protection of biota. Results of different acid extraction methods suggest that most of the pseudototal content was potentially mobile. Principal component analysis indicated that the sites near the Pile (Encerrado channel) were more polluted than the distal ones. Tissues of Spartina spp. located within Encerrado channel showed the highest metal levels among all studied sites. These results show that the problem still persists and the mining wastes are the sources of the pollution. Furthermore, the Encerrado channel is a highly impacted area, as it is shown by their metal enriched sediments.

Nutritive and xenobiotic compounds in the alien algae Undaria pinnatifida from Argentine Patagonia.

Seaweeds have been used as food since ancient times. The edible brown algae Undaria pinnatifida is native to northeast Asia; however, in 1992, the first specimens in Patagonian environments were found and, since then, have rapidly expanded. The main object of this study was to determine, for the first time in Argentina, the nutritive composition and concentrations of trace elements and hydrocarbons in these alien algae and evaluate their usefulness as food. Sexually mature U. pinnatifida samples were collected at 10-m depth in the Nuevo and San José gulfs. The first site is influenced by activities from Puerto Madryn city, and the latter place was considered as the control. Protein, dietary fiber, and mineral concentrations were similar in both gulfs and in the same order as in eastern countries. Crude protein, indigestible fiber, and calcium and magnesium concentrations were greatest in blade; lipid concentration was greatest in sporophyll; and sodium and potassium concentrations were greatest in midrib. Amino acids showed the greatest concentrations in blades, and these were greater than those reported in kelp from Japan. Cadmium (Cd), arsenic, mercury, and hydrocarbons were detected, but only Cd showed concentrations that could be a risk for consumption. In Argentina, maximum acceptable levels of these contaminants in seaweeds are not established.

Assessment of recent sediment influence in an urban polluted subantarctic coastal ecosystem. Beagle Channel (Southern Argentina).

In this study, baseline information about the environmental status of Ushuaia (UB) and Golondrina (GB) bays is presented. Surface and bottom seawater and freshwater discharged from land were evaluated. Multivariate analysis identified different water quality zones within the bays, two of them located next to the north and northwest coastlines of UB, where the majority of human activities are developed. Porosity, total organic matter, biochemical components, ammonium, and phytopigments were determined in sediment samples from each quality zone. Benthic fluxes of nutrients and dissolved oxygen were assessed in situ using opaque chambers. In northwest zone of UB, carbon equivalents of proteins and carbohydrates in surficial sediments were the same order as in hypertrophic ecosystems, whereas ammonium and phosphate released from sediment greatly exceeded the allochthonous sources. Management of municipal wastewater is required to remediate this chronic pollution.