BackgroundIn the post-genomic era, multi-faceted research on complex disorders such as autism has generated diverse types of molecular information related to its pathogenesis. The rapid accumulation of putative candidate genes/loci for Autism Spectrum Disorders (ASD) and ASD-related animal models poses a major challenge for systematic analysis of their content. We previously created the Autism Database (AutDB) to provide a publicly available web portal for ongoing collection, manual annotation, and visualization of genes linked to ASD. Here, we describe the design, development, and integration of a new module within AutDB for ongoing collection and comprehensive cataloguing of ASD-related animal models.DescriptionAs with the original AutDB, all data is extracted from published, peer-reviewed scientific literature. Animal models are annotated with a new standardized vocabulary of phenotypic terms developed by our researchers which is designed to reflect the diverse clinical manifestations of ASD. The new Animal Model module is seamlessly integrated to AutDB for dissemination of diverse information related to ASD. Animal model entries within the new module are linked to corresponding candidate genes in the original "Human Gene" module of the resource, thereby allowing for cross-modal navigation between gene models and human gene studies. Although the current release of the Animal Model module is restricted to mouse models, it was designed with an expandable framework which can easily incorporate additional species and non-genetic etiological models of autism in the future.ConclusionsImportantly, this modular ASD database provides a platform from which data mining, bioinformatics, and/or computational biology strategies may be adopted to develop predictive disease models that may offer further insights into the molecular underpinnings of this disorder. It also serves as a general model for disease-driven databases curating phenotypic characteristics of corresponding animal models.

Molecular underpinnings of complex psychiatric disorders such as autism spectrum disorders (ASD) remain largely unresolved. Increasingly, structural variations in discrete chromosomal loci are implicated in ASD, expanding the search space for its disease etiology. We exploited the high genetic heterogeneity of ASD to derive a predictive map of candidate genes by an integrated bioinformatics approach. Using a reference set of 84 Rare and Syndromic candidate ASD genes (AutRef84), we built a composite reference profile based on both functional and expression analyses. First, we created a functional profile of AutRef84 by performing Gene Ontology (GO) enrichment analysis which encompassed three main areas: 1) neurogenesis/projection, 2) cell adhesion, and 3) ion channel activity. Second, we constructed an expression profile of AutRef84 by conducting DAVID analysis which found enrichment in brain regions critical for sensory information processing (olfactory bulb, occipital lobe), executive function (prefrontal cortex), and hormone secretion (pituitary). Disease specificity of this dual AutRef84 profile was demonstrated by comparative analysis with control, diabetes, and non-specific gene sets. We then screened the human genome with the dual AutRef84 profile to derive a set of 460 potential ASD candidate genes. Importantly, the power of our predictive gene map was demonstrated by capturing 18 existing ASD-associated genes which were not part of the AutRef84 input dataset. The remaining 442 genes are entirely novel putative ASD risk genes. Together, we used a composite ASD reference profile to generate a predictive map of novel ASD candidate genes which should be prioritized for future research.

For treating hemodynamic instability during off-pump coronary artery bypass, we recommend intraaortic balloon pump insertion as the preferred bail-out method rather than conversion to cardiopulmonary bypass.

Despite the high risk population of coronary artery disease, the use of XIENCE V in 'real world' Indian patients was associated with very low clinical event rates upto three years of follow up.

An otherwise healthy, full-term neonate presented at day 15 of life to the pediatric emergency with generalized papulo-pustular rash for 2 d. This was finally diagnosed as bullous impetigo caused by Staphylococcus aureus (S. aureus). The skin lesions decreased significantly after starting antibiotic therapy and drainage of blister fluid. There was no recurrence of the lesions on follow-up. This case of generalized pustular eruption due to S. aureus in a neonate is reported, as it poses a diagnostic dilemma and can have serious consequences if left untreated.

Deposition of amyloid in localized form is rare and most often involves head and neck region. Localized amyloidosis carries good prognosis with surgical debridement offering symptomatic benefit. We present an adolescent male presenting with localized sinonasal amyloidosis managed previously with conservative surgical debridement. The patient was symptomatic from early childhood and the previous histopathological reports were non-specific inflammation. A repeat biopsy revealed features of amyloidosis and retrospective review of past slides revealed the same. On explaining the course of the disease and prognosis, the patient opted for regular follow up. A pertinent comprehensive literature review of the condition is discussed.

A 64 years old male diabetic patient with ejection fraction of 16% and renal dysfunction underwent off-pump CABG using both in situ internal mammary artery grafts. Left internal mammary artery was used to bypass left anterior descending artery and right internal mammary artery was used as composite graft. Patient had uneventful recovery and left ventricular ejection fraction improved to 34% within 8 months after surgery. In presence of left ventricular dysfunction, both internal thoracic artery grafting should be preferred for better patency rate and flow reserve. This is the first ever case report of anaortic off-pump bilateral internal thoracic artery grafting in a patient with left ventricular ejection fraction less than 20%.

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