Eficacia del diagnóstico prenatal no invasivo por células fetales libres en sangre materna 1990-2014. Revisión sistemática

ANTECEDENTES: El aislamiento de células fetales libres o ADN fetal en sangre materna abre una ventana de posibilidades diagnósticas no invasivas para patologías monogénicas y cromosómicas, además de permitir la identificación del sexo y del RH fetal. Actualmente existen múltiples estudios que evalúan la eficacia de estos métodos, mostrando resultados costo-efectivos y de menor riesgo que el estándar de oro. Este trabajo describe la evidencia encontrada acerca del diagnóstico prenatal no invasivo luego de realizar una revisión sistemática de la literatura. OBJETIVOS: El objetivo de este estudio fue reunir la evidencia que cumpla con los criterios de búsqueda, en el tema del diagnóstico fetal no invasivo por células fetales libres en sangre materna para determinar su utilidad diagnóstica.  MÉTODOS: Se realizó una revisión sistemática de la literatura con el fin de determinar si el diagnóstico prenatal no invasivo por células fetales libres en sangre materna es efectivo como método de diagnóstico.  RESULTADOS: Se encontraron 5,893 artículos que cumplían con los criterios de búsqueda; 67 cumplieron los criterios de inclusión: 49.3% (33/67) correspondieron a estudios de corte transversal, 38,8% (26/67) a estudios de cohortes y el 11.9% (8/67) a estudios casos y controles. Se obtuvieron resultados de sensibilidad, especificidad y tipo de prueba. CONCLUSIÓN: En la presente revisión sistemática, se evidencia como el diagnóstico prenatal no invasivo es una técnica feasible, reproducible y sensible para el diagnóstico fetal, evitando el riesgo de un diagnóstico invasivo.

Análises estratigráfica e estrutural da Seção Rifte (Valanginiano ao Barremiano) na área do levantamento sísmico 3D de baixo vermelho, Bacia Potiguar emersa

Baixo Vermelho area, situated on the northern portion of Umbuzeiro Graben (onshore Potiguar Basin), represents a typical example of a rift basin, characterized, in subsurface, by the sedimentary rift sequence, correlated to Pendência Formation (Valanginian-Barremian), and by the Carnaubais fault system. In this context, two main goals, the stratigraphic and the structural analysis, had guided the research. For this purpose, it was used the 3D seismic volume and eight wells located in the study area and adjacencies. The stratigraphic analysis of the Valanginian-Barremian interval was carried through in two distinct phases, 1D and 2D, in which the basic concepts of the sequence stratigraphy had been adapted. In these phases, the individual analysis of each well and the correlation between them, allowed to recognize the main lithofacies, to interpret the effective depositional systems and to identify the genetic units and key-surfaces of chronostratigraphic character. The analyzed lithofacies are represented predominantly by conglomerates, sandstones, siltites and shales, with carbonate rocks and marls occurring subordinately. According to these lithofacies associations, it is possible to interpret the following depositional systems: alluvial fan, fluvio-deltaic and lacustrine depositional systems. The alluvial fan system is mainly composed by conglomerates deposits, which had developed, preferentially in the south portion of the area, being directly associated to Carnaubais fault system. The fluvial-deltaic system, in turn, was mainly developed in the northwest portion of the area, at the flexural edge, being characterized by coarse sandstones with shales and siltites intercalated. On the other hand, the lacustrine system, the most dominant one in the study area, is formed mainly by shales that could occur intercalated with thin layers of fine to very fine sandstones, interpreted as turbidite deposits. The recognized sequence stratigraphy units in the wells are represented by parasequence sets, systems tracts and depositional sequences. The parasequence sets, which are progradational or retrogradational, had been grouped and related to the systems tracts. The predominance of the progradation parasequence sets (general trend with coarsening-upward) characterizes the Regressive Systems Tract, while the occurrence, more frequently, of the retrogradation parasequence sets (general trend with finning-upward) represents the Transgressive System Tract. In the seismic stratigraphic analysis, the lithofacies described in the wells had been related to chaotic, progradational and parallel/subparallel seismic facies, which are associated, frequently, to the alluvial fans, fluvial-deltaic and lacustrine depositional systems, respectively. In this analysis, it was possible to recognize fifteen seismic horizons that correspond to sequence boundaries and to maximum flooding surfaces, which separates Transgressive to Regressive systems tracts. The recognition of transgressive-regressive cycles allowed to identify nine, possibly, 3a order deposicional sequences, related to the tectonic-sedimentary cycles. The structural analysis, in turn, was done at Baixo Vermelho seismic volume, which shows, clearly, the structural complexity printed in the area, mainly related to Carnaubais fault system, acting as an important fault system of the rift edge. This fault system is characterized by a main arrangement of normal faults with trend NE-SO, where Carnaubais Fault represents the maximum expression of these lineations. Carnaubais Fault corresponds to a fault with typically listric geometry, with general trend N70°E, dipping to northwest. It is observed, throughout all the seismic volume, with variations in its surface, which had conditioned, in its evolutive stages, the formation of innumerable structural features that normally are identified in Pendencia Formation. In this unit, part of these features is related to the formation of longitudinal foldings (rollover structures and distentional folding associated), originated by the displacement of the main fault plan, propitiating variations in geometry and thickness of the adjacent layers, which had been deposited at the same time. Other structural features are related to the secondary faultings, which could be synthetic or antithetic to Carnaubais Fault. In a general way, these faults have limited lateral continuity, with listric planar format and, apparently, they play the role of the accomodation of the distentional deformation printed in the area. Thus, the interaction between the stratigraphic and structural analysis, based on an excellent quality of the used data, allowed to get one better agreement on the tectonicsedimentary evolution of the Valanginian-Barremian interval (Pendência Formation) in the studied area

Bivalves da Formação Taciba, Cisuraliano, Grupo Itararé, Bacia do Paraná, e seu significado bioestratigráfico e paleoambiental no contexto da glaciação neopaleozóica no Gondwana central

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Sucessão estratigráfica do Andar Alagoas na Serra do Tonã, Bacia do Tucano (BA)

STRATIGRAPHIC SUCCESSION OF ALAGOAS STAGE ON SERRA DO TONÃ, TUCANO BASIN (BAHIA). Located in northeast of Bahia, serra do Tonã is a NS elongated plateau that standsout in the flattened relief of Tucano Basin. The stratigraphic succession belongs to the Aptian post-rift sequence of this basin. Based on facies analysis, vertical stratigraphic profiles and satelite images interpretation, three stacked stratigraphic units were recognized: (1) lower carbonate unit, composed by laminated limestones and breccias, 5 m thick, correlated with Camadas Batateira of Arripe Basin; (2) intermediate siliciclastic unit, 100m thick and made of sandstones exhibiting finning upward cycles, overlaid by mudstones and sandstones wich sedimentary structures suggest action of tidal currents and (3) upper carbonate unit, composed by laminated limestones, 2-10 m thick, related with Santana Formation, that record lacustrine environment with possible marine influence. Paleocurrent analysis indicates proviniance from north and paleoflows towards south, similar to the Aptian fluvial facies of Araripe Basin, showing that both basins integrated the same continental paleodrainage

Estratigrafia do Andar Alagoas na sub-bacia do Tucano Norte, Bahia

Pós-graduação em Geociências e Meio Ambiente - IGCE

Estratigrafia do Andar Alagoas na sub-bacia do Tucano Norte, Bahia

Pós-graduação em Geociências e Meio Ambiente - IGCE

A KEL gene encoding serine at position 193 of the Kell glycoprotein results in expression of KEL1 antigen

BACKGROUND: The KEL2/KEL1 (k/K) blood group polymorphism represents 578C>T in the KEL gene and Thr193Met in the Kell glycoprotein. Anti-KEL1 can cause severe hemolytic disease of the fetus and newborn. Molecular genotyping for KEL*1 is routinely used for assessing whether a fetus is at risk. Red blood cells (RBCs) from a KEL:1 blood donor (D1) were found to have abnormal KEL1 expression during evaluation of anti-KEL1 reagents. STUDY DESIGN AND METHODS: Kell genotyping methods, including KEL exon 6 direct sequencing, were applied. KEL cDNA from D1 was sequenced. Flow cytometry was used to assess KEL1 and KEL2 RBC expression. RESULTS: RBCs from the donor, her mother, and an unrelated donor gave weak or negative reactions with some anti-KEL1 reagents. Other Kell-system antigens appeared normal. The three individuals were homozygous for KEL C578 (KEL*2) but heterozygous for a 577A>T transversion, encoding Ser193. They appeared to be KEL*2 homozygotes by routine genotyping methods. Flow cytometry revealed weak KEL1 expression and normal KEL2, similar to that of KEL*2 homozygotes. CONCLUSION: Ser193 in the Kell glycoprotein appears to result in expression of abnormal KEL1, in addition to KEL2. The mutation is not detected by routine Kell genotyping methods and, because of unpredicted KEL1 expression, could lead to a misdiagnosis.