Search results for "bioinformatics"

Genetic epidemiology of Parkinson's disease

2004

Drosophila Models of Parkinson's Disease: Discovering Relevant Pathways and Novel Therapeutic Strategies

2010

Parkinson's disease (PD) is the second most common neurodegenerative disorder and is mainly characterized by the selective and progressive loss of dopaminergic neurons, accompanied by locomotor defects. Although most PD cases are sporadic, several genes are associated with rare familial forms of the disease. Analyses of their function have provided important insights into the disease process, demonstrating that three types of cellular defects are mainly involved in the formation and/or progression of PD: abnormal protein aggregation, oxidative damage, and mitochondrial dysfunction. These studies have been mainly performed in PD models created in mice, fruit flies, and worms. Among them, Dro…

A Diet for Dopaminergic Neurons?

2009

Parkinson’s disease (PD) is the second most common neurodegenerative disease, which unfortunately is still fatal. Since the discovery of dopamine (DA) neuronal cell loss within the substantia nigra in PD, the past decades have seen the understanding of the pathophysiological mechanisms underlying the degenerative process advance at a very impressive rate. Nevertheless, there is at present no cure for PD. Although there are no proven therapies for prevention, a large body of evidence from animal studies has highlighted the paramount role of dietary factors in counteracting DA degeneration. Consistently, associations between the risk of developing PD and the intake of nutrients, individual fo…

Is antioxidant therapy effective to treat alzheimer's disease?

2011

Alzheimer’s disease (AD) is a neurodegenerative process associated with oxidative stress. In the past, it was claimed that all neuronal lesions involved in the onset and progression of AD were related to oxidative stress. Today, we know that intracellular amyloid beta (Ab) could play a central role in the pathophysiology of the disease. Ab binds to heme groups in mitochondrial membranes causing electron transport chain impairment and loss of respiratory function. The experimental evidence of such oxidative stress leads to the basis for treatment of AD with antioxidants. Many clinical trials have been developed to clarify whether antioxidants are beneficial in AD treatment. However, the resu…

Oral encapsulated vascular malformation: an undescribed presentation in the mouth

2016

Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity.

Animal models of non-alcoholic steatohepatitis: of mice and man.

2010

The epidemic occurrence of obesity has led to a rapid increase in the incidence of non-alcoholic fatty liver disease (NAFLD) in industrial countries. The disease spectrum includes hepatic steatosis, lobular inflammation with steatohepatitis (NASH) and varying degrees of liver fibrosis, which can progress to cirrhosis. Hepatocellular carcinoma can develop in patients with NASH, even in the absence of cirrhosis. The majority of patients with primary NASH exhibit risk factors that define the metabolic syndrome including insulin resistance and visceral obesity. However, only a minority of patients with NAFLD progress to end-stage liver disease and, so far, predictors to identify these patients …

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…