Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy

Five disease genes encoding sarcomeric proteins and associated with familial and classical forms of hypertrophic cardiomyopathy have been determined since 1989. In 1996 two other genes encoding ventricular regulatory and essential myosin light chains were shown to be associated with a particular phenotype of the disease characterized by mid left ventricular obstruction. The aim of the present study was to search for mutations in the ventricular regulatory myosin light chain gene (MYL2), located on chromosome 12q23q24.3, in a panel of 42 probands presenting a classical phenotype of familial hypertrophic cardiomyopathy. Single-strand conformation polymorphism analysis was used to search for mutations in the coding segments of the MYL2 gene, and the abnormal products were sequenced. Two novel missense mutations, Phe18Leu in exon 2 and Arg58Gln in exon 4 were identified in three unrelated families. None of the affected patients had hypertrophy localized only at the level of the papillary muscle with mid left ventricular obstruction. By analysis of genetic recombinations, one of these mutations identified in a large family allowed us to refine the localization of the MYL2 gene on the genetic map, in an interval of 6 cM containing six informative microsatellite markers. In conclusion, we show that mutations in the MYL2 gene may be involved in familial and classical forms of hypertrophic cardiomyopathy, and we provide new tools for the genetic analysis of patients with familial hypertrophic cardiomyopathy.     

Recombinant colorimetric antibodies: construction and characterization of a bifunctional F(ab)2/alkaline phosphatase conjugate produced in Escherichia coli

We have designed a vector which allows the synthesis in Escherichia coli of bifunctional F(ab)2-alkaline phosphatase conjugates. The vector contains a di-cistronic operon encoding truncated heavy chain (Fd or VH-CH1) of an IgG inserted between residues +6 and +7 of bacterial alkaline phosphatase (PhoA), and the light chain of the same IgG. We demonstrate the utility of this approach with the heavy and light chain domains of a snake toxin-specific monoclonal antibody, M alpha 2-3. We show that the VH-CH1-PhoA hybrid and VL-CL are concomitantly expressed and exported to the periplasm of E. coli where they form a disulfide-linked chimeric protein. The hybrid has the same affinity as M alpha 2-3 for the snake toxin antigen and possesses PhoA enzymatic activity.     

Laterality in visual speech perception.

The lateralization of visual speech perception was examined in 3 experiments. Participants were presented with a realistic computer-animated face articulating 1 of 4 consonant-vowel syllables without sound. The face appeared at 1 of 5 locations in the visual field. The participants' task was to identify each test syllable. To prevent eye movement during the presentation of the face, participants had to carry out a fixation task simultaneously with the speechreading task. In one study, an eccentricity effect was found along with a small but significant difference in favor of the right visual field (left hemisphere). The same results were found with the face articulating nonlinguistic mouth movements (e.g., kiss). These results suggest that the left-hemisphere advantage is based on the processing of dynamic visual information rather than on the extraction of linguistic significance from facial movements. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

Pathophysiology of erectile dysfunction

During the past decade, our knowledge of the hemodynamics, functional anatomy, neurophysiology, and neuropharmacology of erectile function has evolved substantially. The change of smooth muscle tone has emerged as a key factor in erection and detumescence. However, future studies are needed to elucidate the cellular and molecular basis of erectile physiology. With insight into normal physiology we will understand the pathologic process and be able to treat it.     

Spatial environments and verbal conditioning in a quasi-counseling interview.

Examined the influence of spatial features of the counseling environment on conditioning of self-reference statements in 2 studies with a total of 68 undergraduates conducted at disparate geographical locations. Factors of room size, distance, and furniture arrangement were systematically manipulated, while interviews were conducted according to a standard, verbal operant-conditioning paradigm. The variable of room size was the most significant variable in both studies. Smaller rooms tended to inhibit the conditioning process. Implications for learning-based counseling are discussed. (37 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Clinical, ultrastructural and biochemical study of a case of GM1 type 2 gangliosidosis

Clinical, histological, ultrastructural and biochemical studies have been performed in a living 20-month-old infant with GM1-gangliosidosis type 2. Rectum, brain and liver biopsies were done. The histological and ultrastructural examination revealed the presence of cytoplasmic membranous bodies in the nervous system and a vacuolisation of the visceral parenchymatous cells, particularly histiocytes. The diagnosis was established by the finding of a generalized beta-galactosidase deficiency and an accumulation of GM1-ganglioside in brain. In leukocytes, the activity of p-nitrophenyl-beta-galactosidase was below 5%, and that of GM1-ganglioside beta-galactosidase below 1% of values obtained in controls. In cerebral tissue, GM1 ganglioside constituted 80% of total gangliosides; its concentration was 15 times that in age-matched controls. No accumulation of GM1 could be evidence in liver. Enzymatic examination of leukocytes obtained from the consanguineous parents revealed heterozygote values.     

Reasons therapists give for refusing to participate in psychotherapy process research.

The purpose of this study was to investigate the reasons why a majority of practitioners refused to participate in a field-based psychotherapy process research project and to learn from them what would be required to enlist their future participation in this type of research. In a sample of 109 psychologists, the main reasons for refusing to participate included insufficient time, unwillingness to audiotape clients, and clients deemed inappropriate for the research. In terms of what would be required to facilitate their participation in future process research, the most common responses were more time and no recording of the therapy sessions. The implications for process research are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Semi-inverse methods for obtaining partial differential equations with chaotic solutions

Semi-inverse methods are used to construct partial differential equations that have chaotic solutions. For first order P.D.E., this comes about by the natural association of the P.D.E. with the orbital equations for the characteristics. Explicit examples are given of linear, quasilinear, nonlinear and systems with the same principal part. The latter kind are used to show that there are 2-dimensional, steady, incompressible, inviscid fluid flows that exhibit chaotic behavior. Second order P.D.E. Are obtained through the requirement that they admit similarity solutions that satisfy O.D.E. With known chaotic behavior. Explicit systems of nonlinear second order P.D.E. That admit chaotic simple wave similarity solutions are constructed.     

A method of replicating glasses and glass ceramics at and near the sample surface

A method for replicating glasses and glass-ceramics at and in close proximity to the surface is described. The replicas used are platinum-palladium pre-shadowed carbon replicas. The method consists of fracturing the sample and mounting it in such a manner that both the shadowing metals and the carbon substrate are deposited on the sample surface and cross-section simultaneously. Artefacts are discussed, and examples of the application of the method given.