Search results for "informatics"

"Symptom vs sensory profiling"-taking one step after the other.

2016

Mechanisms of neuropathic pain and their importance in Fabry disease

2007

UNLABELLED One of the most prominent features of Fabry disease is neuropathic pain. Neuropathic pain occurs after neuronal damage. In contrast to inflammatory or trauma-related pain, which normally helps to maintain or restore body functions, neuropathic pain tends to become chronic, and must therefore be considered a 'pathological' pain. Neuropathic pain has usually been classified according to the aetiology of nerve damage: traumatic, inflammatory, cancer-related or metabolic (e.g. Fabry disease). However, use of this classification often results in inadequate therapy for neuropathic pain. Recent research has revealed distinct mechanisms that are responsible for neuropathic pain. These me…

Cardiovascular Disease and SERMs

2006

Aktuelle interdisziplinäre Diagnostik und Therapie der endokrinen Orbitopathie*

2008

Genetics of Neurodegenerative Disorders

2003

Asthma and metabolic syndrome: Current knowledge and future perspectives

2014

Asthma and obesity are epidemiologically linked; however, similar relationships are also observed with other markers of the metabolic syndrome, such as insulin resistance and dyslipidemia, which cannot be accounted for by increased body mass alone. Obesity appears to be a predisposing factor for the asthma onset, both in adults and in children. In addition, obesity could make asthma more difficult to control and to treat. Although obesity may predispose to increased Th2 inflammation or tendency to atopy, other mechanisms need to be considered, such as those mediated by hyperglycaemia, hyperinsulinemia and dyslipidemia in the context of metabolic syndrome. The mechanisms underlying the associ…

Ketogenic diet as a metabolic therapy for mood disorders: Evidence and developments.

2018

Abstract Despite significant advances in pharmacological and non-pharmacological treatments, mood disorders remain a significant source of mental capital loss, with high rates of treatment resistance, requiring a coordinated effort in investigation and development of efficient, tolerable and accessible novel interventions. Ketogenic diet (KD) is a low-carb diet that substantially changes the energetic matrix of the body including the brain. It has been established as an effective anticonvulsant treatment, and more recently, the role of KD for mental disorders has been explored. Ketogenic diet has profound effects in multiple targets implicated in the pathophysiology of mood disorders, inclu…

Reply to the Letter «A challenge for medium and small pancreatic transplant groups: How can the learning curve from the retrieval team affect the pan…

2021

Microbiome and Diseases: Hepatic Disorders

2018

Intensive research efforts aim to understand the multifaceted molecular mechanisms underlying disease onset and progression of nonalcoholic fatty liver disease (NAFLD) and alcohol-induced liver disease (ALD). Taken together, NAFLD and ALD are the most common liver diseases worldwide, and universally accepted therapies other than lifestyle interventions either focusing on weight reduction and physical exercise or alcohol abstinence are lacking. During the last decade, alterations of intestinal microbiota composition and intestinal barrier function leading to an increased translocation of bacterial endotoxin and of metabolites originating from an altered intestinal microbiome are emerging as …

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

2021

AbstractPurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We also reviewed 33 additional affected individuals previously reported in the literature or available through public repositories with clinical information.ResultsMolecular and clinical data analysis of 75 patients with BCL11A-IDD identified 60 unique variants (30 frameshift, 7 missense, 6 splic…