Search

Holt–Oram syndrome HOS OMIM 142900 is characterized by upperextremity malformations involving the radial, thenar, or carpal bones and a personal andor family history of congenital heart defects CHDs. It is inherited in an autosomal dominant manner. The TBX5gene located on chromosome 12 12q24.1 is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation Lys88ter. We discuss genotype–phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis. © 2008 WileyLiss, Inc.

The paper analyses aspects of a radiographic magnification technique consisting of obtaining very high definition radiographic images (on single emulsion film), subsequently magnified through a photographic technique on to another radiographic film or on to ordinary photographic paper.This technique, which can be employed for industrial radiographic investigations which are hard to resolve with standard radiographic techniques, may be regarded as an alternative to techniques involving the use of more sophisticated and expensive equipment of the kind used for micro-radiographic investigations.The paper gives the results of several qualitative and quantitative tests carried out at the laboratory of the Italian Institute of Welding. These results establish a basis for the definition of a simple yet reliable test procedure.Finally, the paper illustrates typical examples of test applications which, in the light of the results obtained, validate the above procedure.

The aim of this study was to evaluate fluctuations in modified nucleoside levels in serum could be used in the diagnosis and monitoring of human immunodeficiency viral (HIV) infection. We used an HPLC technique to assay serum levels of eight modified nucleosides in three groups of patients: normal subjects, patients with HIV infection at various stages of the disease, and intravenous (i.v.) heroin users, HIV-negative. The mean levels of modified nucleosides in patients with HIV infection were 2 or 3 times higher than those of normal subjects, while they were only slightly increased in i.v. heroin users. With multivariate discriminant analysis we identified a panel of serum nucleosides that had a 92% diagnostic efficiency in the discrimination between HIV-positive subjects and i.v. heroin users, and a 96% diagnostic efficiency in distinguishing HIV-positive patients from normal subjects; this efficiency has been confirmed with a new group of incoming HIV-positive patients. Furthermore, we found that in HIV patients at stage II of the disease, classified according to the Center for Disease Control of Atlanta, those with the lowest values of the helper/suppressor (H/S) iymphocyte ratio showed the highest serum levels of modified nucleosides, and that there was a statistically significant inverse correlation between t6A (N6-threoninocarbonyl-adenosine), m1I (1-methylinosine) and m22G (N2N2-dimethylguanosine) levels and the H/S ratio.

Hybrid energy storage systems aim to achieve both high power and energy densities by combining supercapacitor-type and battery-type electrodes in tandem. The challenge is to find sustainable materials as fast charging negative electrodes, which are characterized by high capacity retention. In this study, mesoporous anatase beads are synthetized with tailored morphology to exploit fast surface redox reactions. The TiO2-based electrodes are properly paired with a commercial activated carbon cathode to form a Li-ion capacitor. The titania electrode exhibits high capacity and rate performance. The device shows extremely stable performance with an energy density of 27 mWh g-1at a specific current of 2.5 A g−1for 10,000 cycles. The remarkable stability is associated with a gradual shift of the potential during cycling as result of the formation of cubic LiTiO2on the surface of the beads. This phenomenon renews the interest in using TiO2as negative electrode for Li-ion capacitors.

Ongoing discussion on the taxonomic status of Anastrepha fraterculus (Wiedemann) and limited biological knowledge of this species emphasize a need for information on sexual behavior and mating compatibility among populations from different ecological regions. In this study, we studied four populations of A. fraterculus from different fruit-growing and biogeographical areas in Argentina, i.e., Yuto and Horco Molle from the northwest and Posadas and Concordia from the northeast. Pair-wise compatibility tests were performed for all possible combinations. Virgin males and females, in the proportion 1:1, were released into field cages containing a tangerine tree (Citrus reticulata Blanco). Sexual behavior was recorded in each cage. To determine the degree of mating compatibility between any two populations, sexual isolation indices and male and female performance indices were calculated. The values of the sexual isolation index did not differ statistically from the expected value (zero) under the assumption of random mating. This result indicates that A. fraterculus populations are fully mating compatible in Argentina, thus encouraging the application of the sterile insect technique to control this species in the region. Differences found between some populations in copulation duration and couple location in the cage suggest that variability might exist for these traits, requiring confirmation in the future. RESUMEN La controversia acerca del estatus taxonómico de la mosca sudamericana de la fruta, Anastrepha fraterculus (Wiedemann) y el limitado conocimiento de la biología de esta especie muestran con fuerza que se necesita información sobre el comportamiento sexual y la compatibilidad para aparearse entre poblaciones de diferentes regiones ecológicas. Nuestro estudio enfrentó cuatro poblaciones de A. fraterculus provenientes de diferentes áreas biogeográficas y de cultivo de fruta en Argentina, a saber, Yuto y Horco Molle, del noroeste del país, y Posadas y Concordia, del noreste. Se realizaron pruebas de compatibilidad entre todas las combinaciones posibles tomadas de a pares. Se liberaron machos y hembras vírgenes en una proporción 1:1 dentro de una jaula de campo conteniendo un árbol de mandarina (Citrus reticulata Blanco). En cada jaula se registró el comportamiento sexual. Para determinar el grado de compatibilidad para el apareo entre cada par de poblaciones se calcularon índices de aislamiento sexual, de comportamiento relativo del macho y de comportamiento relativo de la hembra. Los valores del índice de aislamiento sexual no fueron estadísticamente diferentes del valor esperado bajo la hipótesis de apareamiento al azar (cero). Este resultado indica que las poblaciones de A. fraterculus son totalmente compatibles en Argentina y alienta a la aplicación en la región de la técnica del insecto estéril para controlar esta especie. Las diferencias que aparecieron en algunas de las poblaciones en cuanto a duración de la cópula y posición de la pareja en la jaula sugieren que podría existir variabilidad para estos caracteres, pero esto deberá ser confirmado en el futuro.

The remating behavior of wild Ceratitis capitata (Wiedemann) females was examined after first mating to males from the wild or from one of two genetic sexing strains: Cast 191 (irradiated or nonirradiated males) or Seib 6-96 (irradiated males only). The observations were carried out in field cages set over a rooted host tree during a continuous period of 10 h in which females were individually identified. On average, 12% of females remated. The general trend was a higher rate of remating for females first mated with lab males compared with females first mated with wild males. It was observed that females that remated tended to start and end their first mating earlier than those females that did not remate, and the first mating of the former was shorter than that of the latter. However, there was no significant differences in copula duration between remater and nonremater females. Females mated initially to wild males showed the longest average refractory period and females mated to Cast 191 irradiated males the shortest. Females first mated to Cast 191 nonirradiated and Seib 6-96 irradiated males showed intermediate values. It is expected that the methodology used in this study can prove useful for routine quality control tests in medfly mass-rearing facilities.

Genetic sexing strains (GSS) are being developed for use in sterile insect technique programs against the Mediterranean fruit fly, Ceratitis capitata (Wiedemann). Among other important factors, the utility of these new strains depends on the ability of laboratory-reared males to compete efficiently with wild males in mating with wild females in the field. The current study evaluated the mating ability of a new GSS, Cast 191, in competition with wild males. A well-known GSS, Seib 6–96, was also included in the test. The effect of irradiation on the mating competitiveness of the Cast 191 strain was assessed. The results showed that nonirradiated Cast 191 males outcompeted wild males, whereas irradiated males performed as well as wild counterparts. Although Seib 6–96 males performed less efficiently than Cast 191, they did not differ from their own performance reported 2 yr ago. Mating duration of Cast males, either irradiated or not, was not significantly different from the mating duration of wild males. Seib 6–96 had shorter mating duration times than wild and Cast males. These results demonstrated, besides an effect of irradiation on male mating success, a good mating performance of the strain Cast 191.