Anorectal malformations

Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life

An empirical investigation of the influence of collaboration in Finance on article impact

We investigate the impact of collaborative research in academic Finance literature to find out whether and to what extent collaboration leads to higher impact articles (6,667 articles across 2001-2007 extracted from the Web of Science). Using the top 5 % as ranked by the 4-year citation counts following publication, we also follow related secondary research questions such as the relationships between article impact and author impact; collaboration and average author impact of an article; and, the nature of geographic collaboration. Key findings indicate: collaboration does lead to articles of higher impact but there is no significant marginal value for collaboration beyond three authors; high impact articles are not monopolized by high impact authors; collaboration and the average author impact of high-impact articles are positively associated, where collaborative articles have a higher mean author impact in comparison to single-author articles; and collaboration among the authors of high impact articles is mostly cross-institutional

A Database of Domain Definitions for Proteins with Complex Interdomain Geometry

Protein structural domains are necessary for understanding evolution and protein folding, and may vary widely from functional and sequence based domains. Although, various structural domain databases exist, defining domains for some proteins is non-trivial, and definitions of their domain boundaries are not available. Here, we present a novel database of manually defined structural domains for a representative set of proteins from the SCOP “multi-domain proteins” class. (http://prodata.swmed.edu/multidom/). We consider our domains as mobile evolutionary units, which may rearrange during protein evolution. Additionally, they may be visualized as structurally compact and possibly independently folding units. We also found that representing domains as evolutionary and folding units do not always lead to a unique domain definition. However, unlike existing databases, we retain and refine these “alternate” domain definitions after careful inspection of structural similarity, functional sites and automated domain definition methods. We provide domain definitions, including actual residue boundaries, for proteins that well known databases like SCOP and CATH do not attempt to split. Our alternate domain definitions are suitable for sequence and structure searches by automated methods. Additionally, the database can be used for training and testing domain delineation algorithms. Since our domains represent structurally compact evolutionary units, the database may be useful for studying domain properties and evolution

A new synaptic player leading to autism risk: Met receptor tyrosine kinase

The validity for assigning disorder risk to an autism spectrum disorder (ASD) candidate gene comes from convergent genetic, clinical, and developmental neurobiology data. Here, we review these lines of evidence from multiple human genetic studies, and non-human primate and mouse experiments that support the conclusion that the MET receptor tyrosine kinase (RTK) functions to influence synapse development in circuits relevant to certain core behavioral domains of ASD. There is association of both common functional alleles and rare copy number variants that impact levels of MET expression in the human cortex. The timing of Met expression is linked to axon terminal outgrowth and synaptogenesis in the developing rodent and primate forebrain, and both in vitro and in vivo studies implicate this RTK in dendritic branching, spine maturation, and excitatory connectivity in the neocortex. This impact can occur in a cell-nonautonomous fashion, emphasizing the unique role that Met plays in specific circuits relevant to ASD

Dimension-specific attention directs learning and listening on auditory training tasks

The relative contributions of bottom-up versus top-down sensory inputs to auditory learning are not well established. In our experiment, listeners were instructed to perform either a frequency discrimination (FD) task ("FD-train group") or an intensity discrimination (ID) task ("ID-train group") during training on a set of physically identical tones that were impossible to discriminate consistently above chance, allowing us to vary top-down attention whilst keeping bottom-up inputs fixed. A third, control group did not receive any training. Only the FD-train group improved on a FD probe following training, whereas all groups improved on ID following training. However, only the ID-train group also showed changes in performance accuracy as a function of interval with training on the ID task. These findings suggest that top-down, dimension-specific attention can direct auditory learning, even when this learning is not reflected in conventional performance measures of threshold change

Bowel management for the treatment of pediatric fecal incontinence

Fecal incontinence is a devastating underestimated problem, affecting a large number of individuals all over the world. Most of the available literature relates to the management of adults. The treatments proposed are not uniformly successful and have little application in the pediatric population. This paper presents the experience of 30 years, implementing a bowel management program, for the treatment of fecal incontinence in over 700 pediatric patients, with a success rate of 95%. The main characteristics of the program include the identification of the characteristics of the colon of each patient; finding the specific type of enema that will clean that colon and the radiological monitoring of the process

New life sciences innovation and distributive justice: rawlsian goods versus senian capabilities

The successful decoding of human genome and subsequent advances in new life sciences innovation create technological presuppositions of a new possibility of justice i.e. the just distribution of both social (income, wealth, etc.) and natural (rationality, intelligence, etc.) goods. Although Rawlsians attempt to expand their theory to include this new possibility, they fail to provide plausible metrics of social justice in the genomics and post-genomics era. By contrast, Senians seem to succeed to do so through their index of basic capabilities. This paper explores what might be regarded as a Senian perspective of distributive justice in new life sciences innovation. The argument is that, by comparing freedoms (different functionings) instead of primary goods, the capability theory allows not only for the identification of injustices linked to natural lottery but also for their elimination through the use of new genomic technologies, including gene-based diagnostics, gene therapy, somatic cell engineering (SCE) and germ-line engineering (GLE). These innovative technologies seem to have the potential to reduce variability in natural goods and therefore enable individuals to convert social goods into well-being or welfare

Brain structural changes and neuropsychological impairments in male polydipsic schizophrenia

BACKGROUND: Polydipsia frequently occurs in schizophrenia patients. The excessive water loading in polydipsia occasionally induces a hyponatremic state and leads to water intoxication. Whether polydipsia in schizophrenic patients correlates with neuropsychological impairments or structural brain changes is not clear and remains controversial. METHODS: Eight polydipsic schizophrenia patients, eight nonpolydipsic schizophrenia patients, and eight healthy controls were recruited. All subjects underwent magnetic resonance imaging (MRI) and neuropsychological testing. Structural abnormalities were analyzed using a voxel-based morphometry (VBM) approach, and patients’ neuropsychological function was assessed using the Brief Assessment of Cognition in Schizophrenia, Japanese version (BACS-J). RESULTS: No significant differences were found between the two patient groups with respect to the clinical characteristics. Compared with healthy controls, polydipsic patients showed widespread brain volume reduction and neuropsychological impairment. Furthermore, the left insula was significantly reduced in polydipsic patients compared with nonpolydipsic patients. These nonpolydipsic patients performed intermediate to the other two groups in the neuropsychological function test. CONCLUSIONS: It is possible that polydipsia or the secondary hyponatremia might induce left insula volume reduction. Furthermore, this structural brain change may indirectly induce more severe neuropsychological impairments in polydipsic patients. Thus, we suggest that insula abnormalities might contribute to the pathophysiology of polydipsic patients

Reduced sensitivity for visual textures affects judgments of shape-from-shading and step climbing behaviour in older adults

Falls on stairs are a major hazard for older adults. Visual decline in normal aging can affect step climbing ability, altering gait and reducing toe clearance. Here we show that a loss of fine-grained visual information associated with age can affect the perception of surface undulations in patterned surfaces. We go on to show that such cues affect the limb trajectories of young adults, but due to their lack of sensitivity, not that of older adults. Interestingly neither the perceived height of a step nor conscious awareness are altered by our visual manipulation but stepping behaviour is: suggesting that the influence of shape perception on stepping behaviour is via the unconscious, action-centred, dorsal visual pathway