ABSTRACT: INTRODUCTION: Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes. CASE PRESENTATION: We describe the case of a 26-year-old European Caucasian man who ...

Alzheimer's Disease (AD), the most common age-related neurodegenerative disorder, is characterized by progressive cognitive decline, synaptic loss, the formation of extracellular β-amyloid plaques and intracellular neurofibrillary tangles, and neuronal cell death. Despite the massive neuronal loss in the 'late stage' of disease, dendritic spine loss represents the best pathological correlate ...

To determine predictive factors for residual disease and hearing outcomes of surgery for congenital cholesteatoma (CC). Retrospective record review of surgery for CC from January 1, 1998, through December 31, 2010. The initial extent of CC was staged using the system as defined by Potsic et al. Tertiary care children's ...

Sensorineural hearing loss of immune-mediated origin may be present as a symptom in systemic autoimmune diseases or may occur as a primary disorder without other organ involvement (auto-immune inner ear disease). The diagnosis of auto-immune inner ear disease is still predicated on clinical features and to date specific diagnostic tests ...

The majority of environmental factors can not modify DNA sequence, but can influence the epigenome. The mitotic stability of the epigenome and ability of environmental epigenetics to influence phenotypic variation and disease, suggests environmental epigenetics will have a critical role in disease etiology and biological areas such as evolutionary biology. ...

Swine erysipelas (SE) is a disease caused by the bacterium Erysipelothrix rhusiopathiae and is one of the best-known and most serious diseases affecting domestic pigs. However, few studies exist concerning the susceptibility of wild boars to this disease and the role of this species as a reservoir. This study investigates ...

Classifications for neurological disorders have evolved from following the theory of the humors to modern anatomical pathology and, recently, to the germ theory that stared the etiological era, as seen in book content lists. The symptomatic approach towards neuronosology was widely used until the middle of the 19th century. The ...

In this issue of Cell Host & Microbe, Bloom and colleagues elegantly show that commensal Bacteroides species fulfill Koch's postulates for inflammatory bowel disease in a host-genotype-specific way. This study showcases the use of a non-germ-free mouse model to identify specific members of the microbiota involved in disease development.

Hypocholesterolemia is defined as total cholesterol (TC) and low density cholesterol (LDL-C) levels below the 5(th) percentile of the general population adjusted for age, gender and race. Hypocholesterolemia may be attributed to inherited disorders or several secondary causes. Inherited forms of hypocholesterolemia consist of a group of rare diseases. The ...

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent inherited nephropathy. The development and enlargement of cysts in ADPKD requires tubular cell proliferation, abnormalities in the extracellular matrix and transepithelial fluid secretion. Multiple studies have suggested that fluid secretion across ADPKD cyst-lining cells is driven by the transepithelial secretion ...

Patients with alcoholic cirrhosis who have ascites have a high risk of developing spontaneous bacterial peritonitis (SBP). The authors report a case of SBP caused by Haemophilus paraphrophilus, the first-reported SBP in literature with this pathogen. Later on, the patient also developed tuberculous (TB) peritonitis associated with thoracic Pott's disease, ...

Non-alcoholic fatty liver disease (NAFLD) encompasses a range of liver histology severity and outcomes in the absence of chronic alcohol use. The mildest form is simple steatosis in which triglycerides accumulate within hepatocytes. A more advanced form of NAFLD, non-alcoholic steatohepatitis (NASH), includes inflammation and liver cell injury, progressive to ...

Since demand for distilling wheat is expected to increase rapidly as a result of the development of the bioethanol industry, efficient production will become of increasing importance. Achieving this will require an understanding of the agronomic factors that influence both grain yield and alcohol yield. Therefore five field experiments using ...

Alcoholic liver disease (ALD) remains a major cause of morbidity and mortality worldwide. For example, the Veterans Administration Cooperative Studies reported that patients with cirrhosis and superimposed alcoholic hepatitis had a 4-year mortality of >60%. The poor prognosis of ALD implies that preventing disease progression would be more effective than ...

Fatty liver disease (FLD), of either alcoholic (AFLD) or non-alcoholic (NAFLD) aetiologies, is characterised histologically by features that are lobulocentric that typically affect zone 3, in contrast with portal-based inflammation characteristics of other forms of chronic liver disease. The authors aimed to determine the prevalence and significance of portal inflammation ...

Nonalcoholic fatty liver disease (NAFLD), which occurs in approximately 17 to 40% of Americans, encompasses progressive stages of liver damage ranging from steatosis to nonalcoholic steatohepatitis (NASH). Inflammation and oxidative stress are known characteristics of NAFLD; however, the precise mechanisms occurring during disease progression remain unclear. The purpose of the ...

The non-alcoholic steato-hepatitis Clinical Research Network has recently shown that portal chronic inflammation is associated with liver fibrosis in American children with non-alcoholic fatty liver disease. We tested whether the portal chronic inflammation-fibrosis association was present in a series of Italian children with non-alcoholic fatty liver disease. We re-assessed the ...

Non-alcoholic fatty liver disease (NAFLD) comprises a disease spectrum ranging from simple steatosis and steatohepatitis to cirrhosis. Based on its strongest risk factors namely visceral obesity and insulin resistance, NAFLD is thought to be the hepatic manifestation of the metabolic syndrome and is considered to be the most common liver ...

The pathogenesis of non-alcoholic fatty liver disease (NAFLD) is not entirely understood. Recently, the role of microRNA in this liver disease entity and its implication in disease pathogenesis and therapeutic potential has advanced rapidly over the year. While the regulation of miRNA function and its mechanism of actions on translational ...

Echinococcosis is a potentially fatal parasitic disease that can affect many animals and humans. The disease results from infection by tapeworm larvae of the genus Echinococcus--notably, E. granulosus, E. multilocularis, E. vogeli andE. oligarthrus. Cyst hydatid disease is usually seen in adults, and mainly affects liver and/or lungs (90%). Cerebral ...

The World Health Organization estimated that 3.2% of the burden of disease around the world is attributable to the consumption of alcohol. The aim of this study is to estimate the burden of disease attributable to alcohol consumption in Portugal. Burden and costs of diseases attributable to alcohol drinking were ...

Alcohol use disorders and alcohol dependency affect millions of individuals worldwide. The impact of these facts lies in the elevated social and economic costs. Alcoholic liver disease is caused by acute and chronic exposure to ethanol which promotes oxidative stress and inflammatory response. Chronic consumption of ethanol implies liver steatosis, ...

Alcoholic liver disease (ALD) is one of the leading causes of liver diseases and liver-related death worldwide. Of the many factors that contribute to the pathogenesis of ALD, gut-derived lipopolysaccharide (LPS) plays a central role in induction of steatosis, inflammation, and fibrosis in the liver. In this review, we discuss ...

Non-alcoholic fatty liver disease (NAFLD) is the most common cause of hepatic dysfunction encountered in general practice. A large proportion of individuals with type 2 diabetes and the metabolic syndrome develop NAFLD. NAFLD is associated with severe insulin resistance and increased risk of cardiovascular disease and can progress to non-alcoholic ...

As part of a larger study to estimate the global burden of disease and injury attributable to alcohol: to evaluate the evidence for a causal impact of average volume of alcohol consumption and pattern of drinking on diseases and injuries; to quantify relationships identified as causal based on published meta-analyses; ...

Non-alcoholic fatty liver disease (NAFLD) is now the most common liver disease in both adults and children worldwide. As a disease spectrum, NAFLD may progress from simple steatosis to steatohepatitis, advanced fibrosis and cirrhosis. An estimated 20-35% of the general population has steatosis, 10% of whom will develop the more ...

An inverse association between moderate alcohol intake and cardiovascular risk, in particular coronary disease and ischemic stroke, has been shown in many epidemiologic studies. In addition, several other diseases are also known to occur less frequently in moderate drinkers than in non-drinkers, whereas excess of drinking is invariably harmful. However, ...

Non-alcoholic fatty liver disease (NAFLD) is one of the most prevalent liver diseases in Western industrialized countries with dramatically rising incidence. The diagnosis of NAFLD requires the existence of steatosis in the absence of significant alcohol consumption. In cases of relevant inflammation pathogenetically linked to steatosis, it is termed non-alcoholic ...

Non-alcoholic fatty liver disease (NAFLD) is a clinical/biochemical condition associated with the metabolic syndrome. As the disease stems from excess calorie intake and lack of physical activity, the correction of unhealthy lifestyles is the background of any prevention and treatment strategy; drugs should remain a second-line treatment. Several studies have ...

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 ...

BACKGROUND/AIMS: The liver has been recognized as a major target of injury in patients with metabolic syndrome and non-alcoholic fatty liver disease has even been considered the hepatic manifestation of metabolic syndrome. Pathogenesis of non-alcoholic fatty liver disease remained unclear. Interleukin-18 belonged to pro-inflammatory cytokines and previous studies showed plasma ...

To investigate whether alcohol consumption and raised body mass index (BMI) act together to increase risk of liver disease. Analysis of data from prospective cohort studies. Scotland. Data were from two of the Midspan prospective cohort studies (9559 men): "Main" study 1965-8, participants from workplaces across central belt of Scotland, ...

The spectrum of non-alcoholic fatty liver disease (NAFLD) ranges from simple steatosis through steatohepatitis to advanced fibrosis and cirrhosis. Although the reason why only a minority of patients develop progressive forms of disease still remains largely unclear, recent research has identified genetic factors as a possible basis for this variation ...

NAFLD (non-alcoholic fatty liver disease) represents a spectrum of fatty liver diseases associated with an increased risk of Type 2 diabetes and cardiovascular disease. The spectrum of fatty liver diseases comprises simple steatosis, steatosis with inflammation [i.e. NASH (non-alcoholic steatohepatitis)], fatty liver disease with inflammation and fibrosis (severe NASH) and ...

Epidemiological and experimental studies have revealed that a mild to moderate drinking of wine, particularly red wine, attenuates the cardiovascular, cerebrovascular, and peripheral vascular risk. However, the experimental basis for such health benefits is not fully understood. The cardioprotective effect of wine has been attributed to both components of wine: ...

Two genome-wide association studies (GWAS) have described associations of variants in PNPLA3 with nonalcoholic fatty liver and plasma liver enzyme levels. We investigated the contributions of these variants to liver disease in Mestizo subjects with a history of alcohol dependence. We found that rs738409 in PNPLA3 is strongly associated with ...

Non-alcoholic fatty liver disease is the most common cause of chronic liver disease in the United States. The development of non-alcoholic steatohepatitis increases the risk for cirrhosis and its complications. The gold standard for diagnosis is liver biopsy, the costs and risks of which make it impractical. Some demographic factors, ...

Patients with gastrointestinal disease may be in particular risk of hypovitaminosis D because of reduced intestinal uptake or metabolism in the liver. The aim of the present study was to evaluate the prevalence of vitamin D deficiency in several groups of patients with various gastroenterologic diseases compared with patients without ...

An inverse association between moderate alcohol intake and cardiovascular risk, in particular coronary disease and ischemic stroke, has been demonstrated in many epidemiologic studies. In addition, several not primarily vascular diseases are also known to occur less frequently in moderate drinkers than in nondrinkers, whereas excess drinking is unquestionably harmful. ...

Non-alcoholic steatohepatitis (NASH) is characterised by steatosis, liver cell injuries, the presence of a mixed inflammatory lobular infiltrate, and variable degrees of fibrosis. Werner syndrome (WS) is a rare autosomal recessive disease characterised by the premature onset of multiple age-related disorders. Central obesity and insulin resistance are common symptoms of ...

Alcoholic liver disease and non-alcoholic liver disease share a similar histological spectrum that starts with 'simple' steatosis, and may be accompanied by inflammation. Alcoholic steatohepatitis and non-alcoholic steatohepatitis (NASH) are progressive forms of alcoholic liver disease and non-alcoholic liver disease, respectively, and can evolve into cirrhosis. The currently accepted minimum ...

Chronic alcohol abuse is an important cause of morbidity and mortality throughout the world. Liver damage due to chronic alcohol intoxication initially leads to accumulation of lipids within the liver and with ongoing exposure this condition of steatosis may first progress to an inflammatory stage which leads the way for ...

ISSUES: Alcohol has been implicated in both the popular press and scientific literature as having a protective effect for at least a dozen conditions including coronary heart disease (CHD). APPROACH: Epidemiological evidence for an apparent protective effect of alcohol on CHD is now being challenged on a number of fronts. ...

OBJECTIVES: We tested the hypothesis that alcohol, alone and in combination with alcohol dehydrogenase (ADH) 1B and ADH1C genotypes, affects liver damage and disease in the general population. METHODS: Information on alcohol intake and on liver disease was obtained from 9,080 men and women from the Copenhagen City Heart Study. ...

AIMS: The goal of this preliminary study was to evaluate the relationship between blood phosphatidylethanol (PEth) and recent drinking in patients with liver disease and hypertension. METHODS: Twenty-one patients with liver disease and 21 patients with essential hypertension were recruited at an academic medical center. Alcohol consumption was estimated using ...

Understanding alcohol addiction and abstinence is key to treating alcoholic liver disease, since abstinence leads to improvement in all forms of alcoholic liver damage. Although pharmacotherapy for alcoholism, using agents such as naltrexone, acamprosate, topiramate, and baclofen, is an exciting field, few studies have included patients with liver disease or ...

Sialadenosis (sialosis) has been associated most often with alcoholic liver disease and alcoholic cirrhosis, but a number of nutritional deficiencies, diabetes, and bulimia have also been reported to result in sialadenosis. The aim of this study was to determine the prevalence of sialadenosis in patients with advanced liver disease. Patients ...

Despite heavy consumption over a long period of time, only a small number of alcoholics develop alcoholic liver disease. This alludes to the possibility that other factors, besides alcohol, may be involved in the progression of the disease. Over the years, many such factors have indeed been identified, including iron. ...

BACKGROUND/AIMS: Primary biliary cirrhosis (PBC) is frequently associated with autoimmune diseases, including thyroid disease, although it is uncertain that this association is higher than in other liver diseases. METHODS: We compared the prevalence and incidence of thyroid dysfunction (TD) in a series of patients with PBC (n=67) with patients with ...

Non-alcoholic fatty liver disease is the clinical hepatic expression of metabolic syndrome. The prevalence of non-alcoholic fatty liver disease is around 20-30%, and with a rapid increase in the metabolic risk factors in the general population, non-alcoholic fatty liver disease has become the most common cause of liver disease worldwide. ...