Splenomegaly as a Primary Manifestation of Gaucher Disease in a Young Adult Woman

Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity of acid β-glucosidase, which results in the accumulation of lipid glucocerebroside in macrophages throughout the body. In this case report we describe the case of a young adult woman with splenomegaly as the primary manifestation of this pathology. This is a case of type 1 Gaucher disease because there is a lack of primary neurological involvement but we have, instead, an age-independent involvement of the visceral organs. It is very important to classify or characterize these patients in a precise manner and to make a complete diagnosis with the help of the many diagnostic resources now at our disposal, especially with genetics, radiology and new techniques of advanced microscopy, also because Gaucher disease requires a long and complex management from early life to adulthood

Elastography in HCV patients

Summary Introduction:  Liver fibrosis (LB) assessment plays an important role in hepatology. A common characteristic of all chronic liver diseases is the occurrence and progression of fibrosis towards cirrhosis. Besides its plain interest for prognosis purposes, determining the fibrosis reveals the natural history of the disease and the risk factors associated with its progression to guide the antifibrotic action of different treatments. Discussion:  Today, in clinical practice there are three available methods for the evaluation of LB. Biopsy, which is still considered as the 'gold standard' method. Serological markers and their mathematical combination are suggested in the last years in alternative to LB. More recently, transient elastography (TE) was proposed. TE is a simple and noninvasive method for measuring liver stiffness. This technique is based on the progression speed of an elastic shear wave within the liver. Conclusions:  Currently, there are just a few studies capable of evaluating the TE effectiveness in chronic liver diseases, mainly in patients infected with hepatitis C virus (HCV). Its application must also be studied in the monitoring of patients suffering from chronic HCV infection and subjected to a treatment that can modify their degree of liver fibrosis. The results of TE must be interpreted according to the clinical background of the specialist

Viral Cirrhosis: an Overview of Haemostatic Alterations and Clinical Consequences

Viral hepatitis is a major health problem worldwide, the principal cause of cirrhosis and hepatocarcinoma. Once cirrhosis occurs, the consequences of liver dysfunction and portal hypertension become evident and, sometimes, life threatening for patients. Among the various complications of liver cirrhosis, the alteration of haemostatic balance is often a hard challenge for the clinician, since it is capable to predispose both to bleeding or thrombosis. In this review, we analyze the principal aspects of procoagulant, anticoagulant and fibrinolytic capacity of cirrhotic patients, which appears to be variably altered in all these aspects, not only in the direction of a tendency to bleeding. Laboratory investigations, at present, may provide only a partial representation of this condition, because of the impossibility to obtain a test capable to furnish a global overview of the haemostatic system and to reproduce in vivo conditions. Furthermore, we describe the pathophysiological mechanisms underlying bleeding manifestations and thrombosis development in cirrhotic patients, which should be considered not only as obvious consequences of the advanced liver disease but, rather, as the result of a complex interaction between inherited and acquired factors

Therapeutic Implications of Mesenchymal Stem Cells in Liver Injury

Mesenchymal stem cells (MSCs), represent an attractive tool for the establishment of a successful stem-cell-based therapy of liver diseases. A number of different mechanisms contribute to the therapeutic effects exerted by MSCs, since these cells can differentiate into functional hepatic cells and can also produce a series of growth factors and cytokines able to suppress inflammatory responses, reduce hepatocyte apoptosis, regress liver fibrosis, and enhance hepatocyte functionality. To date, the infusion of MSCs or MSC-conditioned medium has shown encouraging results in the treatment of fulminant hepatic failure and in end-stage liver disease in experimental settings. However, some issues under debate hamper the use of MSCs in clinical trials. This paper summarizes the biological relevance of MSCs and the potential benefits and risks that can result from translating the MSC research to the treatment of liver diseases

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Psychosocial Findings in Alcohol-Dependent Patients Before and After Three Months of Total Alcohol Abstinence

Alcohol use disorders (AUDs) may be associated with several psychological and affective disorders. It is controversial, however, if these symptoms are a cause or rather a consequence of alcohol dependence. There are few data testing simultaneously psychosocial and affective disorders before and after a period of alcohol abstinence. The aim of this study was to perform multiple psychometric evaluations in alcohol-dependent patients before and after 12 weeks of abstinence. Twenty-five alcohol-dependent patients were included in the study. The following psychometric tests were administered at baseline (T0) and after 12 weeks (T1): addiction severity index (ASI), brief psychiatric rating scale (BPRS), social behavior scale (SBS), Sheehan disability scale (DISS), aggression questionnaire (AQ). At T1, 16 (64%) patients were abstinent, 5 (20%) patients dropped out and 4 (16%) patients relapsed. Compared to T0, patients totally abstinent at T1 showed a significant reduction of the scores related to BPRS, BPRS-E and its subscales (except BPRS 5), ASI 1, ASI 2, ASI 3, ASI 6, ASI 7, BSM, AQ, DISS 1, DISS 2, DISS 3 (p < 0.05). No significant changes in ASI 4, ASI 5, DISS 4, and DISS 5, BPRS 5 scores were found at T1 compared to T0. The present study indicates that total alcohol abstinence improves psychometric features, such as alcohol addiction severity, psychiatric rating, social behavior, aggressiveness, and disability. Larger controlled studies are needed to confirm these findings

Extragastric Diseases and Helicobacter pylori

The extragastric manifestations of Helicobacter pylori infection still remain a very strong topic throughout the H.&nbsp;pylori world. Indeed, H.&nbsp;pylori may interfere with many biological processes, both inside and outside of the stomach, possibly influencing or determining the occurrence of many diseases outside of the stomach. While its role in idiopathic thrombocytopenic purpura and sideropenic anemia has already been recognized, emerging evidence suggests that H.&nbsp;pylori may increase the risk of acute coronary syndrome, contribute to insulin resistance and be associated with neurodegenerative, respiratory, and other miscellaneous disorders previously associated with other conditions. Different pathogenic mechanisms have been hypothesized, including the induction of a low-grade inflammatory state and the occurrence of molecular mimicry mechanisms. This review summarizes the results of the most relevant studies published on this topic in the last year

Impact of Lactobacillus reuteri Supplementation on Anti-Helicobacter pylori Levofloxacin-Based Second-Line Therapy

Introduction. Helicobacter pylori eradication therapy has the potential burden of antibiotic-associated gastrointestinal (GI) side effects. The occurrence of side effects is among the major drawbacks of such regimens. GI manifestations may be related to alterations in the intestinal microflora. Probiotics can prevent or reduce antibiotic-associated side effects and have an inhibitory effect on H. pylori. Methods. To define the efficacy of Lactobacillus reuteri supplementation in H. pylori eradication and in preventing GI-associated side effects during a second-line levofloxacin triple therapy. 90 H. pylori-positive patients receive for 7 days a second-line triple therapy with esomeprazole, levofloxacin, and amoxicillin with L. reuteri for 14 days (group 1) and without probiotic supplementation (group 2). Each subject received a validated questionnaire to record symptoms everyday for 4 weeks from the start of therapy. H. pylori status and side effects were assessed 6 weeks after treatment. Results. The eradication rate was significantly influenced by probiotic supplementation with L. reuteri (group 1: 36/45, 80%; group 2: 28/45 62%; P < 0.05). The incidence of nausea and diarrhoea in group 1 was significantly lower than that in group 2. Conclusion. In H. pylori-positive subjects L. reuteri supplementation increases the eradication rate while reducing the incidence of the most common side effects associated with antibiotic therapy in second-line treatment

Acute hepatitis caused by a natural lipid-lowering product: When "alternative" medicine is no "alternative" at all

Background/Aims The general public's growing mistrust of the pharmaceutical industry and its perception of the lack of adverse effects of "natural" therapy have lead to the increasing use of "alternative drugs" for hypercholesterolemia. Methods A sixty-three year old woman presented with severe hypertransaminasemia that had developed progressively over a few weeks. For six months she had been taking Equisterol ® , an over-the-counter lipid-lowering product containing guggulsterol and red yeast rice extract. The product had been prescribed for hypercholesterolemia because the patient had developed hepatotoxicity while on lovastatin. Results Liver biopsy revealed severe lobular necroinflammatory changes with an eosinophilic infiltrate. The episode was regarded as an adverse drug reaction after exclusion of other possible causes of acute liver disease and the prompt normalization of liver function tests after Equisterol ® had been discontinued. Red yeast rice extract's cholesterol-lowering properties are largely due to fungal metabolites known as monacolins, one of which – monacolin K – is identical to lovastatin. Conclusions The choice of an alternative medicine approach in this case subjected the patient to "re-challenge" with the official medicine agent that had previously caused mild hepatotoxicity. Physicians should keep in mind that "alternative" medicine is not always the safest alternative and sometimes it is not even "alternative.

Prevention and treatment of Clostridium difficile infection

Clostridium difficile infection (CDI) is one of the most common intestinal infection often requiring hospitalization. Several risk factors are associated with the development of CDI with antibiotic treatments being the most common. Diagnosis is based on clinical suspicion, (typical symptoms associated with risk factors) and confirmatory tests, both of which are often inadequate leading to underestimation of the disease. The management of CDI is based on fluid and nutritional support, avoidance of predisposing conditions and therapeutic interventions. Therapy consists mainly in antibiotics with vancomycin and metronidazole being the most used, the former is usually reserved for severe cases or when metronidazole cannot be used. Evidence is increasing about the use of fidaxomicin, which is as effective as vancomycin but associated with lower rates of recurrences. Lastly, fecal microbiota transplantation is now recommended by most guidelines for recurrent CDI obtaining extremely higher efficacy in comparison to standard treatments