Search results for "INFORMATICS"
showing 10 items of 2542 documents
From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia
2013
Fanconi anemia (FA) is a rare genetic disease associated with deficiencies in DNA repair pathways. A body of literature points to a pro-oxidant state in FA patients, along with evidence for oxidative stress (OS) in the FA phenotype reported by in vitro, molecular, and animal studies. A highlight arises from the detection of mitochondrial dysfunction (MDF) in FA cell lines of complementation groups A, C, D2, and G. As yet lacking, in vivo studies should focus on FA-associated MDF, which may help in the understanding of the mitochondrial basis of OS detected in cells and body fluids from FA patients. Beyond the in vitro and animal databases, the available analytical devices may prompt the dir…
Dupuytren's contracture: an update of biomolecular aspects and therapeutic perspectives.
2005
The so-called fibrogenic cytokines, able to induce the growth of fibroblasts and their differentiation into myofibroblasts and to stimulate their production of extracellular matrix, are involved in the genesis of Dupuytren’s contracture. Although many studies have been made of biomolecular aspects of palmar fibromatosis, practical applications from them are still far from imminent because of the real difficulty of blocking their action in vivo, even in a chronic, progressive lesion such as Dupuytren’s disease. Consequently, surgical excision of the palmar fascia still remains the treatment of choice.
INFLAMMATION IN IRRITABLE BOWEL SYNDROME: MYTH OR NEW TREATMENT TARGET?
2016
Low-grade intestinal inflammation plays a key role in the pathophysiology of irritable bowel syndrome (IBS), and this role is likely to be multifactorial. The aim of this review was to summarize the evidence on the spectrum of mucosal inflammation in IBS, highlighting the relationship of this inflammation to the pathophysiology of IBS and its connection to clinical practice. We carried out a bibliographic search in Medline and the Cochrane Library for the period of January 1966 to December 2014, focusing on publications describing an interaction between inflammation and IBS. Several evidences demonstrate microscopic and molecular abnormalities in IBS patients. Understanding the mechanisms u…
Current understanding of somatic stem cells in leiomyoma formation.
2014
Objective To provide a detailed summary of current scientific knowledge of somatic stem cells (SSCs) in murine and human myometrium and their putative implication in leiomyoma formation, as well as to establish new therapeutic options. Design Pubmed and Scholar One manuscripts were used to identify the most relevant studies on SSCs and their implications in human myometrium and leiomyomas. Setting University research laboratory–affiliated infertility clinic. Patient(s) Not applicable. Intervention(s) Not applicable. Main Outcome Measure(s) Not applicable. Result(s) Despite numerous publications on SSCs, it was not until 2007 that scientific evidence based on the use of 5-bromo-2′-deoxyuridi…
Human Endometrial Side Population Cells Exhibit Genotypic, Phenotypic and Functional Features of Somatic Stem Cells
2010
During reproductive life, the human endometrium undergoes around 480 cycles of growth, breakdown and regeneration should pregnancy not be achieved. This outstanding regenerative capacity is the basis for women's cycling and its dysfunction may be involved in the etiology of pathological disorders. Therefore, the human endometrial tissue must rely on a remarkable endometrial somatic stem cells (SSC) population. Here we explore the hypothesis that human endometrial side population (SP) cells correspond to somatic stem cells. We isolated, identified and characterized the SP corresponding to the stromal and epithelial compartments using endometrial SP genes signature, immunophenotyping and char…
Animal Models of Cardiovascular Disease
2009
The use of animal models to study cardiovascular disease has made a substantial contribution to increasing our understanding of disease pathogenesis, has led to the development of diagnostic techniques, and has made it possible to verify the effectiveness of different preventative and therapeutic approaches, whether pharmacological or interventional. The main limitations stem from differences between human and experimentally induced pathology, in terms of both genetic regulatory mechanisms and factors that influence cardiovascular function. The experimental models and preparations used in cardiovascular research include those based on isolated cells or tissues or structures immersed in orga…
Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease
2011
SUMMARY The etiology of primary esophageal achalasia is largely unknown. There is increasing evidence that genetic alterations might play an important but underestimated role. Current knowledge of the genetic base of Hirschsprung's disease in contrast is far more detailed. The two enteric neuropathies have several clinical features in common. This association may also exist on a cellular and molecular level. The aim of this review is to enlighten those etiopathogenetic concepts of Hirschsprung's disease that seem to be useful in uncovering the pathological processes causing achalasia. Three aspects are looked at: (i) the genetic base of Hirschsprung's disease, particularly its major suscept…
High resolution colonoscopy in live mice.
2007
Endoscopy in humans is a powerful method for physicians to examine the gut for inflammatory or neoplastic changes. In medical and immunological research, animal models of intestinal diseases are established key tools to investigate the mucosal immune system, colitis and cancer development in the gut. Moreover, such models represent valid systems for testing of novel drugs. In the past, mice had to be killed in order to analyze colitis activity and tumor development. The following protocol describes a method to perform high resolution endoscopic monitoring of live mice. Mice developing colitis or colonic tumors are anesthetized and examined with a miniendoscope. The endoscope is introduced v…
Provision of tailored health information for patient empowerment: An initial study
2019
Search of "right" health information by patients/citizens is an important step towards their empowerment. The number of health information seekers on the Internet is steadily increasing over the years so it is crucial to understand their information needs and the challenges they face during the search process. However, generic search engines do not make any distinction among the users and overload them with the amount of information. Moreover, specific search engines/sites mostly work on medical literature and are built by hand. This paper analyses the possibility of providing the user with tailored web information by exploiting the web semantic capabilities and, in particular, those of sch…
An optimal code for patient identifiers.
2004
How to distinguish 1 billion individuals by an identifier consisting of eight characters, allowing a reasonable amount of error detection or even error correction? Our solution of this problem is an optimal code over a 32-character alphabet that detects up to two errors and corrects one error as well as a transposition of two adjacent characters. The corresponding encoding and error checking algorithms are available for free; they are also embedded as components of the pseudonymisation service that is used in the TMF-the German telematics platform for health research networks.