Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease caused by CAG repeat expansion in the ATXN2 gene. The repeat resides in an encoded region of the gene resulting in polyglutamine (polyQ) expansion which has been assumed to result in gain of function, predominantly, for the ATXN2 protein. We evaluated temporal cerebellar expression profiles by RNA sequencing of ATXN2Q127 mice versus wild-type (WT) littermates. ATXN2Q127 mice are characterized by a progressive motor phenotype onset, and have progressive cerebellar molecular and neurophysiological (Purkinje cell firing frequency) phenotypes. Our analysis revealed previously uncharacterized early and progressive abnormal patterning of cerebellar gene expression. Weighted Gene Coexpression Network Analysis revealed four gene modules that were significantly correlated with disease status, composed primarily of genes associated with GTPase signaling, calcium signaling and cell death. Of these genes, few overlapped with differentially expressed cerebellar genes that we identified in Atxn2−/− knockout mice versus WT littermates, suggesting that loss-of-function is not a significant component of disease pathology. We conclude that SCA2 is a disease characterized by gain of function for ATXN2

The IHI Rochester Report 2022 on Healthcare Informatics Research: Resuming After the CoViD-19

In 2020, the CoViD-19 pandemic spread worldwide in an unexpected way and suddenly modified many life issues, including social habits, social relationships, teaching modalities, and more. Such changes were also observable in many different healthcare and medical contexts. Moreover, the CoViD-19 pandemic acted as a stress test for many research endeavors, and revealed some limitations, especially in contexts where research results had an immediate impact on the social and healthcare habits of millions of people. As a result, the research community is called to perform a deep analysis of the steps already taken, and to re-think steps for the near and far future to capitalize on the lessons learned due to the pandemic. In this direction, on June 09th-11th, 2022, a group of twelve healthcare informatics researchers met in Rochester, MN, USA. This meeting was initiated by the Institute for Healthcare Informatics-IHI, and hosted by the Mayo Clinic. The goal of the meeting was to discuss and propose a research agenda for biomedical and health informatics for the next decade, in light of the changes and the lessons learned from the CoViD-19 pandemic. This article reports the main topics discussed and the conclusions reached. The intended readers of this paper, besides the biomedical and health informatics research community, are all those stakeholders in academia, industry, and government, who could benefit from the new research findings in biomedical and health informatics research. Indeed, research directions and social and policy implications are the main focus of the research agenda we propose, according to three levels: the care of individuals, the healthcare system view, and the population view

Stochastic Species Turnover and Stable Coexistence in a Species-Rich, Fire-Prone Plant Community

Understanding the mechanisms that maintain diversity is important for managing ecosystems for species persistence. Here we used a long-term data set to understand mechanisms of coexistence at the local and regional scales in the Cape Floristic Region, a global hotspot of plant diversity. We used a dataset comprising 81 monitoring sites, sampled in 1966 and again in 1996, and containing 422 species for which growth form, regeneration mode, dispersal distance and abundances at both the local (site) and meta-community scales are known. We found that species presence and abundance were stable at the meta-community scale over the 30 year period but highly unstable at the local scale, and were not influenced by species' biological attributes. Moreover, rare species were no more likely to go extinct at the local scale than common species, and that alpha diversity in local communities was strongly influenced by habitat. We conclude that stochastic environmental fluctuations associated with recurrent fire buffer populations from extinction, thereby ensuring stable coexistence at the meta-community scale by creating a “neutral-like” pattern maintained by niche-differentiation

Kualitas Hidup Pasien Diabetes Melitus Tipe 2 di Puskesmas Se Kota Kupang

Diabetes Mellitus is well known as a chronic disease which can lead to a decrease in quality of life in all domains. The study aims to explore the diabetic type 2 patient\u27s quality of life and find out the factors affecting in type 2 diabetic mellitus patients. The cross-sectional study design is used that included 65 patient with type 2 diabetes mellitus, in 11 public health centers of Kupang City. Data were collected by using Short Form Survey (SF-36) that assessed 8-scale health profile. Independent sample t-test is used to analyze the correlation between the factors affecting and the quality of life. the study showed that the QoL of DM patients decreased in all 8- health profile including physical functioning, social functioning, mental health, general health, pain, change in the role due to physical problems and emotional problems. The Study also showed there was a relationship between gender, duration of suffering from Diabetes mellitus, and complications to the quality of life. Male perceived a better quality of life than female

A case for using grid architecture for state public health informatics: the Utah perspective

<p>Abstract</p> <p>This paper presents the rationale for designing and implementing the next-generation of public health information systems using grid computing concepts and tools. Our attempt is to evaluate all grid types including data grids for sharing information and computational grids for accessing computational resources on demand. Public health is a broad domain that requires coordinated uses of disparate and heterogeneous information systems. System interoperability in public health is limited. The next-generation public health information systems must overcome barriers to integration and interoperability, leverage advances in information technology, address emerging requirements, and meet the needs of all stakeholders. Grid-based architecture provides one potential technical solution that deserves serious consideration. Within this context, we describe three discrete public health information system problems and the process by which the Utah Department of Health (UDOH) and the Department of Biomedical Informatics at the University of Utah in the United States has approached the exploration for eventual deployment of a Utah Public Health Informatics Grid. These three problems are: i) integration of internal and external data sources with analytic tools and computational resources; ii) provide external stakeholders with access to public health data and services; and, iii) access, integrate, and analyze internal data for the timely monitoring of population health status and health services. After one year of experience, we have successfully implemented federated queries across disparate administrative domains, and have identified challenges and potential solutions concerning the selection of candidate analytic grid services, data sharing concerns, security models, and strategies for reducing expertise required at a public health agency to implement a public health grid.</p