Ana Paula Nunes da Silva

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea

Benign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a slowly progressing or nonprogressing chorea, without cognitive decline or other progressive neurologic dysfunction, but also by the existence of heterogeneity of the clinical presentation within and among families. The genetic cause of BHC is the presence of either point mutations or deletions in the thyroid transcription factor 1 gene (TITF1). We studied a Portuguese BHC family composed of two probands: a mother and her only son. The patients were identified in a neurology out-patient clinic showing mainly involuntary choreiform movements since childhood, myoclonic jerks, falls, and dysarthria. We performed magnetic resonance imaging (MRI), electroencephalogram (EEG), nerve conduction studies, thyroid ultrasound scan, biochemical thyroid tests, and electrocardiogram (ECG). We excluded Huntington disease by appropriate genetic testing and sequenced the entire TITF1 gene for both patients. The patients showed MRI alterations: (1) in the mother, abnormal hyperintense pallida and cortical cerebral/cerebellar atrophy; and (2) in the son, small hyperintense foci in the cerebellum and subtle enlargement of the fourth ventricle. Sequence analysis of the TITF1 gene in these patients revealed the presence of a heterozygous C > T substitution at nucleotide 745, leading to the replacement of a glutamine at position 249 for a premature stop codon. A previously undescribed nonsense mutation in the TITF1 gene was identified as being the genetic cause of BHC in this family.

Correlação entre as Temperaturas da Superfície do Mar e a quantidade da precipitação na estação chuvosa no Nordeste do estado de Pernambuco

CORRELATION BETWEEN SEA SURFACE TEMPERATURE AND INDEX OF RAIN IN THE RAINY STATION IN THE NORTHEAST OF THE PERNAMBUCO STATE The main objective of this work is to evaluate how much the rain on the northeast of the Pernambuco State is due to the Sea Surface Temperature anomalies (SSTA) of Atlantic and Pacific Ocean. Accumulated monthly rain data registered at 15 rain gauges distributed throughout the studied region during the period from 1963 to 1992 and the 1945 to 1993 SSTA series extracted from the version of Comprehensive Ocean-Atmospheric Data Set (COADS) were used. It was verified that the studied region presents a strong positive correlation with the study area of the South Atlantic Basin and a negative correlation with the Equatorial Pacific Basin. However, the SSTA in the Atlantic region showed a stronger correlation compared to the correlation in the Pacific at the same significance level. This might be due to the proximity of the Atlantic analyzed area. It is suggested that an anomalous heating on this Atlantic area may cause extreme rain events on the east coast of Northeast Region.

SURFACE RADIATION BALANCE AND THE LAND USE IN THE AMAZON REGION

The goal of this study is to verify the relationship between the change in land use and occupa tion and the balance of surface radiation in the Macapa Metropolitan Area (RMM), which is placed in the Legal Amazon Northeast, due to the fact of the fast urbanization of the area. The development of the urban areas causes changes on the cover and use of the soil which could have a direct effect on the surface energy balance that may result in atmospheric modification in a local, or even regional, scale. In order to verify the RMM urban development, were used images from LANDSAT TM and OLI/TIRS of five different periods. Therefore, through the supervised classification MAXVER, it was possible to verify an expansion of the build-up area, the class of soil that covers the urban sheet, between 1986 and 2015. The data collected showed the biggest thermal changes took place further from the city, due to changes in the use of the soil in the isolated region of the RMM, Since the expansion of the urban network of the RMM occurs in the SW and S directions, with emphasis on the Fazendinha district, which is located between the center of Macapa and the center of the city of Santana.