Search results for "Natural history"

Plant communities of the Czerwona Woda River Valley (Stołowe Mountains National Park)

2018

Abstract The Czerwona Woda River is the main watercourse in the Stołowe Mountains National Park and drains the major part of the Stołowe Mts. It was regulated in the past, but its channel has been spontaneously naturalised. Now, managed spruce forests grow along almost the entire length of this small mountain stream. The aims of the present study were to investigate diversity of plant communities connected with the Czerwona Woda stream and to prepare detailed vegetation maps. The results obtained can potentially be a reference for future restoration projects implemented in the Stołowe Mountains National Park. As a result of vegetation mapping, there were distinguished 20 plant communities r…

AISF position paper on nonalcoholic fatty liver disease (NAFLD): Updates and future directions

2017

Abstract This review summarizes our current understanding of nonalcoholic fatty liver disease (NAFLD), a multi-factorial systemic disease resulting from a complex interaction between a specific genetic background and multiple environmental/metabolic “hits”. The role of gut microbiota, lipotoxicity, inflammation and their molecular pathways is reviewed in-depth. We also discuss the epidemiology and natural history of NAFLD by pinpointing the remarkably high prevalence of NAFLD worldwide and its inherent systemic complications: hepatic (steatohepatitis, advanced fibrosis and cirrhosis), cardio-metabolic (cardiovascular disease, cardiomyopathy, arrhythmias and type 2 diabetes) and neoplastic (…

Farber disease: design of the first observational and cross-sectional cohort study capturing retrospective and prospective data on the natural histor…

2017

Fast-Growing Alveolar Echinococcosis Following Lung Transplantation

2020

International audience; Alveolar echinococcosis is a rare but life-threatening infection caused by the parasiteEchinococcus multilocularis. Its natural history is characterized by a slow parasitic growth over several years. Increased incidence and shorter development delay have been reported in immune-compromised patients. We report the reactivation of aborted lesions within 12 months of lung transplantation leading to a fast-growing aggressive hepatic lesion. Timely identification of alveolar echninococcosis allowed prompt albendazole treatment and radical surgery leading to a favorable outcome 42 months after transplantation. However, close clinical, serological and radiological monitorin…

The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency

2017

International audience; A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in …

Genetics and Pathogenetic Role of Inflammasomes in Philadelphia Negative Chronic Myeloproliferative Neoplasms: A Narrative Review

2021

The last decade has been very important for the quantity of preclinical information obtained regarding chronic myeloproliferative neoplasms (MPNs) and the following will be dedicated to the translational implications of the new biological acquisitions. The overcoming of the mechanistic model of clonal evolution and the entry of chronic inflammation and dysimmunity into the new model are the elements on which to base a part of future therapeutic strategies. The innate immune system plays a major role in this context. Protagonists of the initiation and regulation of many pathological aspects, from cytokine storms to fibrosis, the NLRP3 and AIM2 inflammasomes guide and condition the natural hi…

Clinical Course and Genetic Susceptibility of Primary Biliary Cirrhosis: Analysis of a Prospective Cohort

2016

Background: Natural history of primary biliary cirrhosis (PBC) is partially characterized in patients from the Mediterranean area whose genetic background differs from that of Northern Europeans. Objectives: We aimed to describe genetic susceptibility and clinical course of PBC in patients from Southern Italy. Methods: Socio-demographic, clinical, biochemical and histological data at diagnosis as well as disease progression of 81 PBC consecutive patients were collected. All subjects were treated with Ursodeoxycholic acid at a dose of 15 mg/kg. HLA class II DRB1 alleles were compared with those of 237 healthy control subjects. IL28B genotyping for IL28B rs12979860 C/T and rs80899917 G/T was …

207 Diagnosis of Anderson-Fabry Disease in Childhood. What Should We Focus on?

2004

Background: Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder which also affects female carriers and has an early onset of symptoms in childhood in both genders. Signs and symptoms are frequently misunderstood and often diagnosis is made approximately 10–20 years after their onset. This has been clearly demonstrated by Fabry outcome survey (FOS) a European database on the natural history of FD and the effects of enzyme replacement therapy with agalsidase alfa (Replagal). Methods: Demographic data on 82 children (40 boys and 42 girls) below 18 years of age, with a median age at FOS entry of 12.9 (0.7–17.9) were analysed Results: Most frequently reported symptoms (60–80%) …

Focal confluent fibrosis in cirrhotic liver: natural history studied with serial CT.

2009

The objective of this study was to assess the long-term natural history of focal confluent fibrosis in cirrhotic liver with CT.Two radiologists retrospectively reviewed in consensus 118 liver CT examinations in 26 patients (19 men, seven women; age range, 32-68 years; mean age, 50 years) performed over approximately 6 years. Helical CT scans were obtained before and 30-35 and 65-70 seconds after injection of 125-150 mL of contrast medium at a rate of 4-5 mL/s. Proof of cirrhosis was based on liver transplantation (n = 6), biopsy (n = 9), or imaging findings (n = 11). The number, location, and attenuation of fibrotic lesions and presence of trapped vessels were evaluated. Variation of hepati…

Predicting Mortality Risk in Patients With Compensated HCV-Induced Cirrhosis: A Long-Term Prospective Study

2009

OBJECTIVES: The identification of prognostic factors associated with mortality is crucial in any clinical setting. METHODS: We enrolled in a prospective study 352 patients with compensated hepatitis C virus (HCV)-induced cirrhosis, consecutively observed between 1989 and 1992. At entry, patients underwent upper endoscopy to detect esophageal varices, and were then surveilled by serial clinical and ultrasonographic examination. The model for end-stage liver disease (MELD) score was calculated with information collected at enrollment. Baseline predictors and intercurrent events associated with mortality were assessed using the Cox regression model. RESULTS: During a median follow-up of 14.4 y…