Coastal and shelf circulation in the vicinity of Camamu Bay (14 degrees S), Eastern Brazilian Shelf

The Camamu Bay (CMB) is located on the narrowest shelf along the South American coastline and close to the formation of two major Western Boundary Currents (WBC), the Brazil/North Brazil Current (BC/NBC). These WBC flow close to the shelf break/slope region and are expected to interact with the shelf currents due to the narrowness of the shelf. The shelf circulation is investigated in terms of current variability based on an original data set covering the 2002-2003 austral summer and the 2003 austral autumn. The Results show that the currents at the shelf are mainly wind driven, experiencing a complete reversal between seasons due to a similar change in the wind field. Currents at the inner-shelf have a polarized nature, with the alongshore velocity mostly driven by forcings at the sub-inertial frequency band and the cross-shore velocity mainly supra-inertially forced, with the tidal currents playing an important role at this direction. The contribution of the forcing mechanisms at the mid-shelf changes between seasons. During the summer, forcings in the two frequency bands are important to drive the currents with a similar contribution of the tidal currents. On the other hand, during the autumn season, the alongshore velocity is mostly driven by sub-inertial forcings and tidally driven currents still remain important in both directions. Moreover, during the autumn when the stratification is weaker, the response of the shelf currents to the wind forcing presents a barotropic signature. The meso-scale processes related to the WBC flowing at the shelf/slope region also affect the circulation within the shelf, which contribute to cause significant current reversals during the autumn season. Currents at the shelf-estuary connection are clearly supra-inertially forced with the tidal currents playing a key role in the generation of the along-channel velocities. The sub-inertial forcings at this location act mainly to drive the weak ebb currents which were highly correlated with both local and remote wind forcing during the summer season. (C) 2010 Elsevier Ltd. All rights reserved.

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis

Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental disorders caused by mutations in genes of the RAS/MAPK pathway. Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis. Recently, the first familial case with a novel KRAS mutation was described. We report on a second vertical transmission (a mother and two siblings) with a novel mutation (p.M72L), in which the proband has trigonocephaly and the affected mother and sister, prominent ectodermal involvement. Metopic suture involvement has not been described before, expanding the main different cranial sutures which can be affected in NS and KRAS gene mutations. The gene alteration found in the studied family is in close proximity to the one reported in the other familial case (close to the switch II region of the G-domain), suggesting that this specific region of the gene could have less severe effects on intellectual ability than the other KRAS gene mutations found in NS patients and be less likely to hamper reproductive fitness. (c) 2012 Wiley Periodicals, Inc.