In the Western world, nonalcoholic fatty liver disease(NAFLD) is considered as one of the most significant liver diseases of the twenty-first century. Its development is certainly driven by environmental factors, but ...In the Western world, nonalcoholic fatty liver disease(NAFLD) is considered as one of the most significant liver diseases of the twenty-first century. Its development is certainly driven by environmental factors, but it is also regulated by genetic background. The role of heritability has been widely demonstratedby several epidemiological, familial, and twin studies and case series, and likely reflects the wide interindividual and inter-ethnic genetic variability in systemic metabolism and wound healing response processes. Consistent with this idea, genome-wide association studies have clearly identified Patatin-like phosholipase domain-containing 3 gene variant I148 M as a major player in the development and progression of NAFLD. More recently, the transmembrane 6 superfamily member 2 E167 K variant emerged as a relevant contributor in both NAFLD pathogenesis and cardiovascular outcomes. Furthermore, numerous casecontrol studies have been performed to elucidate the potential role of candidate genes in the pathogenesis and progression of fatty liver, although findings are sometimes contradictory. Accordingly, we performed a comprehensive literature search and review on the role of genetics in NAFLD. We emphasize the strengths and weaknesses of the available literature and outline the putative role of each genetic variant in influencing susceptibility and/or progression of the disease.展开更多
AIM: To investigate clinical and biochemical features of hepatorenal syndrome(HRS), to assess short and long- term survival evaluating potential predictors of early mortality. METHODS: Sixty-two patients with liver ci...AIM: To investigate clinical and biochemical features of hepatorenal syndrome(HRS), to assess short and long- term survival evaluating potential predictors of early mortality. METHODS: Sixty-two patients with liver cirrhosis and renal failure, defined as a serum creatinine value > 1.5 mg/dL on at least two measurements within 48 h, admitted to our tertiary referral Unit from 2001 to 201, were retrospectively reviewed. Among them, 33 patients(53.2%) fulfilled the revised criteria of the International Ascites Club for the diagnosis of HRS. Twenty-eight patients were treated with combinations of terlipressin and albumin, two with dopamine and al- bumin, and three with albumin alone. No patients were suitable for liver transplantation. Complete response was defined as normalization of creatinine levels to less than 1.5 mg/dL, partial response as a decrease of at least 50% but not to less than 1.5 mg/dL, no response as no reduction in creatinine or a decrease of less 50% compared to pre-treatment values. All of the patients were followed up for at least 1 year until January 2013. RESULTS: HRS type 1 was diagnosed in 15 patients(45.5%). Hepatitis C virus infection was the primary etiology(69.6%), followed by alcohol(15.2%), and cryptogenesis(15.2%). Complete response to therapy was obtained in only 3 cases(9.1%) and partial re- sponse in 7 patients(21.2%). Median survival was 30 d(range: 10-274) without significant differences be- tween type 1 and type 2 HRS. By univariate analysis, Child-Pugh class C(P = 0.009), presence of hepatocel- lular carcinoma(P = 0.04), low serum sodium(P = 0.02), high bilirubin values(P = 0.009) and high Model for End-stage Liver Disease(MELD) score(P = 0.03) were predictive factors of 30-d mortality. By multivari- ate analysis, only serum sodium < 132 mEq/L(OR = 31.39; P = 0.02) and MELD score > 27(OR = 18.72; P = 0.01) were independently associated with a survival of less than one month. CONCLUSION: HRS still has a poor prognosis, even when vasoactive drug therapies are extensively used.展开更多
BACKGROUND The effectiveness of colonoscopy strictly depends on adequate bowel cleansing.Recently,a 1 L polyethylene glycol plus ascorbate(PEG-ASC)solution(Plenvu;Norgine,Harefield,United Kingdom)has been introduced o...BACKGROUND The effectiveness of colonoscopy strictly depends on adequate bowel cleansing.Recently,a 1 L polyethylene glycol plus ascorbate(PEG-ASC)solution(Plenvu;Norgine,Harefield,United Kingdom)has been introduced on the evidence of three phase-3 randomized controlled trials,but it had never been tested in the real-life.AIM To assess the effectiveness and tolerability of the 1 L preparation compared to 4 L and 2 L-PEG solutions in a real-life setting.METHODS All patients undergoing a screening or diagnostic colonoscopy after a 4,2 or 1 L PEG preparation,were consecutively enrolled in 5 Italian centers from September 2018 to February 2019.The primary endpoints of the study were the assessment of bowel cleansing success and high-quality cleansing of the right colon.The secondary endpoints were the evaluation of tolerability,adherence and safety of the different bowel preparations.Bowel cleansing was assessed through the Boston Bowel Preparation Scale.Adherence was defined as consumption of at least 75%of each dose,while tolerability was evaluated through a semiquantitative scale.Safety was systematically monitored through adverse events reporting.RESULTS Overall,1289 met the inclusion criteria and were enrolled in the study.Of these,490 patients performed a 4 L-PEG preparation(Selgesse^■),566 a 2 L-PEG cleansing(Moviprep^■or Clensia^■)and 233 a 1 L-PEG preparation(Plenvu^■).Bowel cleansing by Boston Bowel Preparation Scale was 6.5±1.5 overall and 6.3±1.5,6.2±1.5,7.3±1.5(P<0.001)in the subgroups of 4 L,2 L and 1 L-PEG preparation,respectively.Cleansing success was achieved in 72.4%,74.1%and 90.1%(P<0.001),while a high-quality cleansing of the right colon in 15.9%,12.0%and 41.4%(P<0.001)for 4 L,2 L and 1 L-PEG preparation groups,respectively.The 1 L preparation was the most tolerated compared to the 2 and 4 L-PEG solutions in the absence of serious adverse events within any of the three groups.Multiple regression models confirmed 1 L PEG-ASC preparation as an independent predictor of overall cleansing success,high-quality cleansing of the right colon and of tolerability.CONCLUSION This study supports the effectiveness and tolerability of 1 L PEG-ASC,also showing it is an independent predictor of overall cleansing success,high-quality cleansing of the right colon and of tolerability.展开更多
A 68-year-old Caucasian man with hepatitis C virus- related cirrhosis was admitted to our Unit in February 2010 for a diagnostic evaluation of three centimetric hypoechoic focal liver lesions detected by regular sur- ...A 68-year-old Caucasian man with hepatitis C virus- related cirrhosis was admitted to our Unit in February 2010 for a diagnostic evaluation of three centimetric hypoechoic focal liver lesions detected by regular sur- veillance ultrasound. The subsequent computer tomog- raphy(CT) led to a diagnosis of unifocal hepatocellular carcinoma(HCC) in Ⅵ hepatic segment, defined the other two nodules in the Ⅵ and Ⅶ segment as sus- pected metastases, and showed a luminal narrowing with marked segmental circumferential thickening of the hepatic flexure of the colon. Colonoscopy detected an ulcerated, bleeding and stricturing lesion at the hepatic flexure, which was subsequently defined as ad- enocarcinoma with a moderate degree of differentiation at histological examination. Finally, ultrasound-guided liver biopsy of the three focal liver lesions confirmed the diagnosis of HCC for the nodule in the Ⅵ segment, and characterized the other two lesions as metastases from colorectal cancer. The patient underwent laparo- tomic right hemicolectomy with removal of thirty-nine regional lymph nodes(three of them tested positive for metastasis at histological examination), and simulta- neous laparotomic radio-frequency ablation of both nodule of HCC and metastases. The option of adju- vant chemotherapy was excluded because of the post- surgical onset of ascites. Abdomen CT and positron emission tomography/CT scans performed after 1, 6 and 12 mo highlighted a complete response to treat- ments without any radiotracer accumulation. After 18 mo, the patient died due to progressive liver failure. Our experience emphasizes the potential coexistence of two different neoplasms in a cirrhotic liver and the complexity in the proper diagnosis and management of the two tumours.展开更多
Primary biliary cirrhosis is a slowly progressive cholestatic autoimmune liver disease that mainly affects middle-aged women with an estimated prevalence ranging from 6.7 to 402 cases per million. Hereditary hemorrhag...Primary biliary cirrhosis is a slowly progressive cholestatic autoimmune liver disease that mainly affects middle-aged women with an estimated prevalence ranging from 6.7 to 402 cases per million. Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease, is an autosomal dominant disorder characterized by angiodysplastic lesions (telangiectases and arteriovenous malformations) that can affect many organs, including liver, with a prevalence of 1-2 cases per 10000. We describe the coexistence, for the first time to our knowledge, of these two rare diseases in a 50-year old Caucasian woman. In this setting, the relevance of an accurate medical history, the role of liver histology and the characterization of liver involvement through dynamic imaging techniques can be emphasized.展开更多
A 63-year-old Caucasian man presented with a cholestatic syndrome, renal failure and arthralgias. A laboratory examination revealed high immunoglobulin G (IgG) and IgG4 levels (5.95 g/L; normal range: 0.08-1.4 g/L), p...A 63-year-old Caucasian man presented with a cholestatic syndrome, renal failure and arthralgias. A laboratory examination revealed high immunoglobulin G (IgG) and IgG4 levels (5.95 g/L; normal range: 0.08-1.4 g/L), pointing to a diagnosis of systemic IgG4-related disease, with definite radiological evidence of biliary and pancreatic expression, and plausible renal, articular, salivary and lacrimal glands involvement. Due to the rarity of the condition, there are currently no random control trials to point to the optimal therapeutic approach. The patient has been on steroid therapy with the subsequent introduction of azathioprine, with a complete resolution of all symptoms, a rapid reduction to normalization of all blood tests, and a complete regression of the radiological picture. Our experience underlines the complexity of IgG4-related disease and its variable and sometimes progressive presentation, while pointing out the need for a careful and complete assessment for possible multi-organ involvement.展开更多
Hepatocellular carcinoma(HCC)is the third leading cause of cancer-related death and the first cause of death in patients with cirrhosis.An increasing incidence worldwide and poor prognosis are reported despite the app...Hepatocellular carcinoma(HCC)is the third leading cause of cancer-related death and the first cause of death in patients with cirrhosis.An increasing incidence worldwide and poor prognosis are reported despite the application of screening protocols and potentially radical therapies(1).展开更多
文摘In the Western world, nonalcoholic fatty liver disease(NAFLD) is considered as one of the most significant liver diseases of the twenty-first century. Its development is certainly driven by environmental factors, but it is also regulated by genetic background. The role of heritability has been widely demonstratedby several epidemiological, familial, and twin studies and case series, and likely reflects the wide interindividual and inter-ethnic genetic variability in systemic metabolism and wound healing response processes. Consistent with this idea, genome-wide association studies have clearly identified Patatin-like phosholipase domain-containing 3 gene variant I148 M as a major player in the development and progression of NAFLD. More recently, the transmembrane 6 superfamily member 2 E167 K variant emerged as a relevant contributor in both NAFLD pathogenesis and cardiovascular outcomes. Furthermore, numerous casecontrol studies have been performed to elucidate the potential role of candidate genes in the pathogenesis and progression of fatty liver, although findings are sometimes contradictory. Accordingly, we performed a comprehensive literature search and review on the role of genetics in NAFLD. We emphasize the strengths and weaknesses of the available literature and outline the putative role of each genetic variant in influencing susceptibility and/or progression of the disease.
文摘AIM: To investigate clinical and biochemical features of hepatorenal syndrome(HRS), to assess short and long- term survival evaluating potential predictors of early mortality. METHODS: Sixty-two patients with liver cirrhosis and renal failure, defined as a serum creatinine value > 1.5 mg/dL on at least two measurements within 48 h, admitted to our tertiary referral Unit from 2001 to 201, were retrospectively reviewed. Among them, 33 patients(53.2%) fulfilled the revised criteria of the International Ascites Club for the diagnosis of HRS. Twenty-eight patients were treated with combinations of terlipressin and albumin, two with dopamine and al- bumin, and three with albumin alone. No patients were suitable for liver transplantation. Complete response was defined as normalization of creatinine levels to less than 1.5 mg/dL, partial response as a decrease of at least 50% but not to less than 1.5 mg/dL, no response as no reduction in creatinine or a decrease of less 50% compared to pre-treatment values. All of the patients were followed up for at least 1 year until January 2013. RESULTS: HRS type 1 was diagnosed in 15 patients(45.5%). Hepatitis C virus infection was the primary etiology(69.6%), followed by alcohol(15.2%), and cryptogenesis(15.2%). Complete response to therapy was obtained in only 3 cases(9.1%) and partial re- sponse in 7 patients(21.2%). Median survival was 30 d(range: 10-274) without significant differences be- tween type 1 and type 2 HRS. By univariate analysis, Child-Pugh class C(P = 0.009), presence of hepatocel- lular carcinoma(P = 0.04), low serum sodium(P = 0.02), high bilirubin values(P = 0.009) and high Model for End-stage Liver Disease(MELD) score(P = 0.03) were predictive factors of 30-d mortality. By multivari- ate analysis, only serum sodium < 132 mEq/L(OR = 31.39; P = 0.02) and MELD score > 27(OR = 18.72; P = 0.01) were independently associated with a survival of less than one month. CONCLUSION: HRS still has a poor prognosis, even when vasoactive drug therapies are extensively used.
文摘BACKGROUND The effectiveness of colonoscopy strictly depends on adequate bowel cleansing.Recently,a 1 L polyethylene glycol plus ascorbate(PEG-ASC)solution(Plenvu;Norgine,Harefield,United Kingdom)has been introduced on the evidence of three phase-3 randomized controlled trials,but it had never been tested in the real-life.AIM To assess the effectiveness and tolerability of the 1 L preparation compared to 4 L and 2 L-PEG solutions in a real-life setting.METHODS All patients undergoing a screening or diagnostic colonoscopy after a 4,2 or 1 L PEG preparation,were consecutively enrolled in 5 Italian centers from September 2018 to February 2019.The primary endpoints of the study were the assessment of bowel cleansing success and high-quality cleansing of the right colon.The secondary endpoints were the evaluation of tolerability,adherence and safety of the different bowel preparations.Bowel cleansing was assessed through the Boston Bowel Preparation Scale.Adherence was defined as consumption of at least 75%of each dose,while tolerability was evaluated through a semiquantitative scale.Safety was systematically monitored through adverse events reporting.RESULTS Overall,1289 met the inclusion criteria and were enrolled in the study.Of these,490 patients performed a 4 L-PEG preparation(Selgesse^■),566 a 2 L-PEG cleansing(Moviprep^■or Clensia^■)and 233 a 1 L-PEG preparation(Plenvu^■).Bowel cleansing by Boston Bowel Preparation Scale was 6.5±1.5 overall and 6.3±1.5,6.2±1.5,7.3±1.5(P<0.001)in the subgroups of 4 L,2 L and 1 L-PEG preparation,respectively.Cleansing success was achieved in 72.4%,74.1%and 90.1%(P<0.001),while a high-quality cleansing of the right colon in 15.9%,12.0%and 41.4%(P<0.001)for 4 L,2 L and 1 L-PEG preparation groups,respectively.The 1 L preparation was the most tolerated compared to the 2 and 4 L-PEG solutions in the absence of serious adverse events within any of the three groups.Multiple regression models confirmed 1 L PEG-ASC preparation as an independent predictor of overall cleansing success,high-quality cleansing of the right colon and of tolerability.CONCLUSION This study supports the effectiveness and tolerability of 1 L PEG-ASC,also showing it is an independent predictor of overall cleansing success,high-quality cleansing of the right colon and of tolerability.
文摘A 68-year-old Caucasian man with hepatitis C virus- related cirrhosis was admitted to our Unit in February 2010 for a diagnostic evaluation of three centimetric hypoechoic focal liver lesions detected by regular sur- veillance ultrasound. The subsequent computer tomog- raphy(CT) led to a diagnosis of unifocal hepatocellular carcinoma(HCC) in Ⅵ hepatic segment, defined the other two nodules in the Ⅵ and Ⅶ segment as sus- pected metastases, and showed a luminal narrowing with marked segmental circumferential thickening of the hepatic flexure of the colon. Colonoscopy detected an ulcerated, bleeding and stricturing lesion at the hepatic flexure, which was subsequently defined as ad- enocarcinoma with a moderate degree of differentiation at histological examination. Finally, ultrasound-guided liver biopsy of the three focal liver lesions confirmed the diagnosis of HCC for the nodule in the Ⅵ segment, and characterized the other two lesions as metastases from colorectal cancer. The patient underwent laparo- tomic right hemicolectomy with removal of thirty-nine regional lymph nodes(three of them tested positive for metastasis at histological examination), and simulta- neous laparotomic radio-frequency ablation of both nodule of HCC and metastases. The option of adju- vant chemotherapy was excluded because of the post- surgical onset of ascites. Abdomen CT and positron emission tomography/CT scans performed after 1, 6 and 12 mo highlighted a complete response to treat- ments without any radiotracer accumulation. After 18 mo, the patient died due to progressive liver failure. Our experience emphasizes the potential coexistence of two different neoplasms in a cirrhotic liver and the complexity in the proper diagnosis and management of the two tumours.
文摘Primary biliary cirrhosis is a slowly progressive cholestatic autoimmune liver disease that mainly affects middle-aged women with an estimated prevalence ranging from 6.7 to 402 cases per million. Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease, is an autosomal dominant disorder characterized by angiodysplastic lesions (telangiectases and arteriovenous malformations) that can affect many organs, including liver, with a prevalence of 1-2 cases per 10000. We describe the coexistence, for the first time to our knowledge, of these two rare diseases in a 50-year old Caucasian woman. In this setting, the relevance of an accurate medical history, the role of liver histology and the characterization of liver involvement through dynamic imaging techniques can be emphasized.
文摘A 63-year-old Caucasian man presented with a cholestatic syndrome, renal failure and arthralgias. A laboratory examination revealed high immunoglobulin G (IgG) and IgG4 levels (5.95 g/L; normal range: 0.08-1.4 g/L), pointing to a diagnosis of systemic IgG4-related disease, with definite radiological evidence of biliary and pancreatic expression, and plausible renal, articular, salivary and lacrimal glands involvement. Due to the rarity of the condition, there are currently no random control trials to point to the optimal therapeutic approach. The patient has been on steroid therapy with the subsequent introduction of azathioprine, with a complete resolution of all symptoms, a rapid reduction to normalization of all blood tests, and a complete regression of the radiological picture. Our experience underlines the complexity of IgG4-related disease and its variable and sometimes progressive presentation, while pointing out the need for a careful and complete assessment for possible multi-organ involvement.
文摘Hepatocellular carcinoma(HCC)is the third leading cause of cancer-related death and the first cause of death in patients with cirrhosis.An increasing incidence worldwide and poor prognosis are reported despite the application of screening protocols and potentially radical therapies(1).