Disease Research Papers - Academia.edu (original) (raw)

Periodontal diseases are among the most common diseases affecting humans. Dental biofilm is a contributor to the etiology of most periodontal diseases. It is also widely accepted that immunological and inflammatory responses to biofilm... more

Periodontal diseases are among the most common diseases affecting humans. Dental biofilm is a contributor to the etiology of most periodontal diseases. It is also widely accepted that immunological and inflammatory responses to biofilm components are manifested by signs and symptoms of periodontal disease. The outcome of such interaction is modulated by risk factors (modifiers), either inherent (genetic) or acquired (environmental), significantly affecting the initiation and progression of different periodontal disease phenotypes. While definitive genetic determinants responsible for either susceptibility or resistance to periodontal disease have yet to be identified, many factors affecting the pathogenesis have been described, including smoking, diabetes, obesity, medications, and nutrition. Currently, periodontal diseases are classified based upon clinical disease traits using radiographs and clinical examination. Advances in genomics, molecular biology, and personalized medicine ...

The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is... more

The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

Abstract: “You can tell the condition of the nation by looking at the status of women.”Jawaharlal Nehru.Women's empowerment is vital to sustainable development and the realization of human rights for all. When women are empowered,... more

Abstract: “You can tell the condition of the nation by looking at the status of women.”Jawaharlal Nehru.Women's empowerment is vital to sustainable development and the realization of human rights for all. When women are empowered, whole families benefit, and these benefits often have ripple effects to future generations. But the study of women’s empowerment has raised a lot of concerns and issues that are associated with other demographic and health outcomes. The WHO constitution states: "The enjoyment of the highest attainable standard of health is one of the fundamental rights of every human being without distinction of race, religion, political belief, economic and social condition. " A major obstacle to enjoying the right to health is being born female. Women’s health is of crucial importance, which is greatly affected by the ways in which they are treated and the status they are given in the society as a whole. Studies have indicated that women are biologically a...

How disease-associated mutations impair protein activities in the context of biological networks remains mostly undetermined. Although a few renowned alleles are well characterized, functional information is missing for over 100,000... more

How disease-associated mutations impair protein activities in the context of biological networks remains mostly undetermined. Although a few renowned alleles are well characterized, functional information is missing for over 100,000 disease-associated variants. Here we functionally profile several thousand missense mutations across a spectrum of Mendelian disorders using various interaction assays. The majority of disease-associated alleles exhibit wild-type chaperone binding profiles, suggesting they preserve protein folding or stability. While common variants from healthy individuals rarely affect interactions, two-thirds of disease-associated alleles perturb protein-protein interactions, with half corresponding to "edgetic" alleles affecting only a subset of interactions while leaving most other interactions unperturbed. With transcription factors, many alleles that leave protein-protein interactions intact affect DNA binding. Different mutations in the same gene leadin...

Health insurance claims (ie, receipts) record patient health care treatments and expenses and, although created for the health care payment system, are potentially useful for research. Combining different types of receipts generated for... more

Health insurance claims (ie, receipts) record patient health care treatments and expenses and, although created for the health care payment system, are potentially useful for research. Combining different types of receipts generated for the same patient would dramatically increase the utility of these receipts. However, technical problems, including standardization of disease names and classifications, and anonymous linkage of individual receipts, must be addressed. In collaboration with health insurance societies, all information from receipts (inpatient, outpatient, and pharmacy) was collected. To standardize disease names and classifications, we developed a computer-aided post-entry standardization method using a disease name dictionary based on International Classification of Diseases (ICD)-10 classifications. We also developed an anonymous linkage system by using an encryption code generated from a combination of hash values and stream ciphers. Using different sets of the origi...

DNA methylation represents a form of genome annotation that mediates gene repression by serving as a maintainable mark that can be used to reconstruct silent chromatin following each round of replication. During development, germline DNA... more

DNA methylation represents a form of genome annotation that mediates gene repression by serving as a maintainable mark that can be used to reconstruct silent chromatin following each round of replication. During development, germline DNA methylation is erased in the blastocyst, and a bimodal pattern is established anew at the time of implantation when the entire genome gets methylated while CpG islands are protected. This brings about global repression and allows housekeeping genes to be expressed in all cells of the body. Postimplantation development is characterized by stage- and tissue-specific changes in methylation that ultimately mold the epigenetic patterns that define each individual cell type. This is directed by sequence information in DNA and represents a secondary event that provides long-term expression stability. Abnormal methylation changes play a role in diseases, such as cancer or fragile X syndrome, and may also occur as a function of aging or as a result of enviro...

The genus Phytopythium is a relatively new group of organisms distinguished from the Pythium genus. These are organisms closely related to Pythium and Phytophthora, with similar structure and biology. Despite many similarities, this genus... more

The genus Phytopythium is a relatively new group of organisms distinguished from the Pythium genus. These are organisms closely related to Pythium and Phytophthora, with similar structure and biology. Despite many similarities, this genus is characterised by several morphological features that allow it to be easily identified. Until now, more than 20 species belong to this genus, most of which are saprophytic organisms. However, there is also a group of species particularly dangerous to plants. These species include, among others, Pp. litorale, Pp. helicoides and Pp. vexans. The purpose of this work was to collect information about these organisms and present them in a condensed form. The study contains basic information about the history of the type of separation, differences in morphology distinctive genus of Phytopythium, Phytophthora and Pythium and information about diseases and host plants. Information is also provided on the potential threat posed by these organisms to forest ecosystems.

Research has proliferated in recent years regarding the relationship of oral disease to systemic conditions. Specifically, periodontal disease has been studied as a potential risk factor for multiple conditions such as cardiovascular... more

Research has proliferated in recent years regarding the relationship of oral disease to systemic conditions. Specifically, periodontal disease has been studied as a potential risk factor for multiple conditions such as cardiovascular disease (CVD) and adverse pregnancy outcomes, while other research focuses on exposures or behaviors associated with oral disease. However, few articles have been published reporting how this information is integrated into schools of dentistry, both in the classroom and clinical curriculum. For our study, a thirty-three-item survey and cover letter were electronically mailed to academic deans at sixty-five accredited dental schools in the United States and Canada in the fall of 2007. The response rate was 77 percent. According to the responses to this survey, the primary topics covered in the didactic curriculum regarding periodontal oral-systemic disease are aging, CVD, diabetes, and tobacco use. Eighty-eight percent of the respondents reported that th...

Ghana is a developing country in West Africa with a population of about 25 million. Medical illnesses in Ghana overlap with those in developed countries, but infection, trauma, and women's health problems are much more prominent.... more

Ghana is a developing country in West Africa with a population of about 25 million. Medical illnesses in Ghana overlap with those in developed countries, but infection, trauma, and women's health problems are much more prominent. Medical practice in rural Africa faces extremely limited resources, a multiplicity of languages (hundreds in Ghana), and presentation of severe illnesses at later stages than seen elsewhere. Despite these limitations, Ghana has established a relatively successful national medical insurance system, and the quality of medical practice is high, at least where it is available. Ghana also has a well-established and sophisticated administrative structure for the supervision of medical education and accreditation, but it has proven very difficult to extend medical training to rural areas, where health care facilities are particularly short of personnel. Physicians are sorely needed in rural areas, but there are few because of the working conditions and financi...

Background Transcription factors in disease-relevant pathways represent potential drug targets, by impacting a distinct set of pathways that may be modulated through gene regulation. The influence of transcription factors is typically... more

Background Transcription factors in disease-relevant pathways represent potential drug targets, by impacting a distinct set of pathways that may be modulated through gene regulation. The influence of transcription factors is typically studied on a per disease basis, and no current resources provide a global overview of the relations between transcription factors and disease. Furthermore, existing pipelines for related large-scale analysis are tailored for particular sources of input data, and there is a need for generic methodology for integrating complementary sources of genomic information. Results We here present a large-scale analysis of multiple diseases versus multiple transcription factors, with a global map of over-and under-representation of 446 transcription factors in 1010 diseases. This map, referred to as the differential disease regulome, provides a first global statistical overview of the complex interrelationships between diseases, genes and controlling elements. The...

Bone marrow contains osteoblast progenitor cells that can be obtained with aspiration and appear to arise from a population of pluripotential connective-tissue stem cells. When cultured in vitro under conditions that promote an... more

Bone marrow contains osteoblast progenitor cells that can be obtained with aspiration and appear to arise from a population of pluripotential connective-tissue stem cells. When cultured in vitro under conditions that promote an osteoblastic phenotype, osteoblast progenitor cells proliferate to form colonies of cells that express alkaline phosphatase and, subsequently, a mature osteoblastic phenotype. We evaluated the number of nucleated cells in bone-marrow samples obtained with aspiration from the anterior iliac crest of thirty-two patients without systemic disease. There were nineteen male patients and thirteen female patients; the mean age was forty-one years (range, fourteen to seventy-seven years). The prevalence and concentration of the osteoblast progenitor cells also were determined, by placing the bone-marrow-derived cells into tissue-culture medium and counting the number of alkaline phosphatase-positive colony-forming units. In order to assess the effect of aspiration vol...

The ‘One Medicine’ concept by Calvin Schwabe has seen an unprecedented revival in the last decade and has evolved towards 'One Health' conceptual thinking, emphasising epidemiology and public health. Pathologists rightly recall the... more

The ‘One Medicine’ concept by Calvin Schwabe has seen an unprecedented revival in the last decade and has evolved towards 'One Health' conceptual thinking, emphasising epidemiology and public health. Pathologists rightly recall the contribution of their discipline by close genomic relationship of animals and humans e.g. in cancer genetics. We need to change our ‘us versus them’ perspective towards a perspective of ‘shared risk’ between humans and animals. Professional organisations have declared their adhesion, governments have created joint public and animal health working groups and numerous research and surveillance programmes have been incepted as demonstrated on the ‘One Health Initiative’ website. Above all these beneficial developments, we should not forget however, that there remains a huge divide between human and veterinary medicine borne from unprecedented (over) specialisation of disciplines and increasingly reductionist approaches to scientific inquiry. What is required now is a radical paradigm shift in our approach to global public health with practical approaches and ‘hands-on’ examples to facilitate its application and accelerating necessary leverage of 'One Health'. We propose elements of an open ‘tool box’ translating the ‘One Health’ concept into practical methods in the fields of integrated disease surveillance, joint animal-human epidemiological studies and health services development, which we hope might serve as a discussion basis for mutually agreed practical cooperation between human and animal health with special emphasis on developing countries.